CP2 Learning Objectives

Respiratory System CP2 Learning Objectives Child Health
CP2 LEARNING OBJECTIVES

GUIDE
UNIVERSITY OF NOTTINGHAM 2017
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CONTENTS
Child Health Learning Objectives ............................................................. 11
Respiratory System ............................................................................................................... 11
Asthma .................................................................................................................................................................... 11
Chest Infections ....................................................................................................................................................... 15
Cystic Fibrosis .......................................................................................................................................................... 20
ENT .......................................................................................................................................................................... 23
Smoke Inhalation ..................................................................................................................................................... 29
Cardiovascular System .......................................................................................................... 30

Presentations........................................................................................................................................................... 30
Left to Right Shunts ................................................................................................................................................. 33
Coarctation of the Aorta.......................................................................................................................................... 36
Duct Dependent Lesions.......................................................................................................................................... 37
Supraventricular Tachycardia (SVT) ......................................................................................................................... 38
Right to Left Shunts ................................................................................................................................................. 39
Cardiac Disease & Association with Other Syndromes ............................................................................................ 41
Duct Dependency Lesions ....................................................................................................................................... 42
Myocarditis .............................................................................................................................................................. 43
Subacute Bacterial Endocarditis .............................................................................................................................. 44
Gastroenterology .................................................................................................................. 45
Nutrition .................................................................................................................................................................. 45
Constipation ............................................................................................................................................................ 51
Gastroenteritis......................................................................................................................................................... 54
Gastro-Oesophageal Reflux ..................................................................................................................................... 57
Jaundice................................................................................................................................................................... 59
Malabsorption ......................................................................................................................................................... 62
Functional Abdominal Pain ...................................................................................................................................... 67
Crohns Disease/Ulcerative Coloitis .......................................................................................................................... 69
Gastritis ................................................................................................................................................................... 71
Mesenteric Adentitis ............................................................................................................................................... 72
Community Paediatrics and Psychiatry ................................................................................. 73

Developmental Disorders ........................................................................................................................................ 73
Safeguarding............................................................................................................................................................ 89
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Child & Adolescent Mental Health (CAMH) ............................................................................................................. 92
Chronic Fatigue Syndrome ...................................................................................................................................... 98
Sleep Disorders ........................................................................................................................................................ 99
Surgery ................................................................................................................................ 100

Acute Abdomen..................................................................................................................................................... 100
Genitalia ................................................................................................................................................................ 110
Pyloric Stenosis ...................................................................................................................................................... 117
Lymphadenopathy................................................................................................................................................. 118
Congenital Malformations ..................................................................................................................................... 120
Head Injury/Acquired Brain Injury ......................................................................................................................... 126
Solid Tumours ........................................................................................................................................................ 128
Genetics & Syndromes ........................................................................................................ 130

Syndromes ............................................................................................................................................................. 130
Duchenne Muscular Dystrophy ............................................................................................................................. 138
Neurofibromatosis & Tuberous Sclerosis .............................................................................................................. 140
Achondroplasia ...................................................................................................................................................... 142
PKU ........................................................................................................................................................................ 143
Neonatology........................................................................................................................ 144
Congenital Heart Disease ...................................................................................................................................... 144
Infections ............................................................................................................................................................... 148
In Utero Growth Retardation (IUGR) ..................................................................................................................... 155
Neonatal Respiratory Distress ............................................................................................................................... 156
Prematurity ........................................................................................................................................................... 158
The Normal Newborn ............................................................................................................................................ 163
Common Newborn Problems ................................................................................................................................ 166
ABO/Rhesus Incompatibility .................................................................................................................................. 169
Congenital Abnormalities ...................................................................................................................................... 170
Haemolytic Disease of the Newborn ..................................................................................................................... 175
Hypoxic Ischaemic Encephalopathy (HIE) .............................................................................................................. 176
Nephrology & Genitourinary ............................................................................................... 178

Acute Nephritis ...................................................................................................................................................... 178
Nephrotic Syndrome ............................................................................................................................................. 181
Urinary Tract Infection (UTI) .................................................................................................................................. 184
Ureteric Problems ................................................................................................................................................. 188
Acute Kidney Injury................................................................................................................................................ 190
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Chronic Kidney Disease ......................................................................................................................................... 191
Haemolytic Uraemic Syndrome ............................................................................................................................. 193
Hypertension ......................................................................................................................................................... 194
Urinary Tract Abnormalities .................................................................................................................................. 196
Neuropathic Bladder ............................................................................................................................................. 198
Neurology............................................................................................................................ 199
Cerebral Palsy (CP) ................................................................................................................................................ 199
Epilepsies ............................................................................................................................................................... 204
Transient Loss of Consciousness (TLOC) ................................................................................................................ 208
Ataxia ..................................................................................................................................................................... 210
Brain Tumours ....................................................................................................................................................... 211
Developmental Regression .................................................................................................................................... 212
Head Growth ......................................................................................................................................................... 213
Migraine & Headache ............................................................................................................................................ 215
Subdural Haematoma............................................................................................................................................ 217
Myopathy .............................................................................................................................................................. 218
Neuropathy ........................................................................................................................................................... 220
Chronic Pain .......................................................................................................................................................... 222
Oncology & Haematology.................................................................................................... 224

Acute Lymphoblastic Leukaemia ........................................................................................................................... 224
Anaemia ................................................................................................................................................................ 228
Idiopathic Thrombocytopenic Purpura (ITP)/Thrombocytopenia.......................................................................... 238
Haemophilia .......................................................................................................................................................... 242
Solid Tumours ........................................................................................................................................................ 244
Disseminated Intravascular Coagulation (DIC) ...................................................................................................... 249
Splenectomy .......................................................................................................................................................... 250
Endocrinology & Growth ..................................................................................................... 251

Hypoglycaemia ...................................................................................................................................................... 251
Insulin Dependent Diabetes Mellitis (IDDM)/Diabetic Ketoacidosis (DKA) ............................................................ 254
Constitutional Delay in Growth ............................................................................................................................. 258
Puberty .................................................................................................................................................................. 261
Obesity .................................................................................................................................................................. 264
Thyroid Disease ..................................................................................................................................................... 266
Cushing’s Syndrome .............................................................................................................................................. 268
Diabetes Insipidus ................................................................................................................................................. 269
Growth Hormone Deficiency ................................................................................................................................. 270
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Gynaecomastia ...................................................................................................................................................... 271
Emergency .......................................................................................................................... 272

Acute Life Threatening Event (ALTE) ..................................................................................................................... 272
Anaphylaxis............................................................................................................................................................ 274
Poisoning/Ingestion/Overdose .............................................................................................................................. 277
Sudden Infant Death Syndrome (SIDS) .................................................................................................................. 280
Burns/Scalds .......................................................................................................................................................... 282
Trauma/Injury........................................................................................................................................................ 285
Near Drowning ...................................................................................................................................................... 286
Acute Pain ............................................................................................................................................................. 287
Infection & Immunology...................................................................................................... 288

Meningococcaemia ............................................................................................................................................... 288
Septicaemia ........................................................................................................................................................... 293
Allergy.................................................................................................................................................................... 297
HIV/AIDS ................................................................................................................................................................ 301
Infectious Mononucleosis...................................................................................................................................... 303
Kawasaki Disease ................................................................................................................................................... 305
Immunodeficiency ................................................................................................................................................. 307
Thyroid Fever......................................................................................................................................................... 309
Malaria .................................................................................................................................................................. 310
Musculoskeletal .................................................................................................................. 311

Abnormal Posture.................................................................................................................................................. 311
Infection of Bones & Joints .................................................................................................................................... 314
Fractures ............................................................................................................................................................... 317
Arthritis.................................................................................................................................................................. 318
Limp ....................................................................................................................................................................... 321
Rickets ................................................................................................................................................................... 322
Osteogenesis Imperfecta ....................................................................................................................................... 324
Polydactly/Syndactly.............................................................................................................................................. 325
Skeletal Dysplasia .................................................................................................................................................. 326
Systemic Lupus Erythematosis (SLE) ...................................................................................................................... 327
Specials - ENT/Dermatology/Ophthalmology ...................................................................... 329

Skin ........................................................................................................................................................................ 329
ENT ........................................................................................................................................................................ 337
Visual Impairment ................................................................................................................................................. 340
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Eyes ....................................................................................................................................................................... 341
Deafness ................................................................................................................................................................ 343
Viral Exanthems ..................................................................................................................................................... 345
Visual Impairment ................................................................................................................................................. 347
Understanding..................................................................................................................... 348
Normal Children .................................................................................................................................................... 348
Nutrition ................................................................................................................................................................ 358
Child Protection & Legal Issues.............................................................................................................................. 360
The Multidisciplinary Team ................................................................................................................................... 361
Common Tests/Abnormalities ............................................................................................................................... 362
Inheritance & Genetic Screening ........................................................................................................................... 368
Health Promotion & Accident Prevention ............................................................................................................. 369
Looked After & Vulnerable Children ...................................................................................................................... 370
Effects of Chemo-/Radiotherapy ........................................................................................................................... 371
Palliative Care ........................................................................................................................................................ 373
Refugees & Ethnic Minorities ................................................................................................................................ 374
The Family Unit...................................................................................................................................................... 375
Principles of Audit, Research & Evidence Based Medicine as they Apply to Child Health ..................................... 376
Principles of Clinical Governance, Patient Safety, Best Practice in Child Health .................................................... 377
Clinical Skills ........................................................................................................................ 378

Clinical Examination............................................................................................................................................... 378
Competent Provision of Basic Life Support (BLS)................................................................................................... 378
Assess Nutrition, Hydration & Growth Status........................................................................................................ 378
Use of Clinical Equipment...................................................................................................................................... 379
Interpretation of Common Tests ........................................................................................................................... 379
Interpretation of CXR............................................................................................................................................. 379
Principles of Safe Drug Prescribing & Administration (Oral & IV) .......................................................................... 379
Common Tests....................................................................................................................................................... 380
Neonatal Resuscitation .......................................................................................................................................... 380
Observe Procedures .............................................................................................................................................. 380
Clinical Procedures ................................................................................................................................................ 380
Obstetrics & Gynaecology Learning Objectives ..................................... 381

Gynaecology........................................................................................................................ 381
History and Examination in Gynaecology .............................................................................................................. 381
The Menstrual Cycle and its Disorders .................................................................................................................. 383
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The Uterus and its Abnormalities .......................................................................................................................... 391
The Cervix and its Disorders .................................................................................................................................. 397
The Ovary and its Disorders................................................................................................................................... 403
Disorders of the Vulva and Vagina......................................................................................................................... 410
Prolapse of the Uterus and Vagina ........................................................................................................................ 415
Disorders of the Urinary Tract ............................................................................................................................... 418
Endometriosis and Chronic Pelvic Pain .................................................................................................................. 423
Genital Tract Infections ......................................................................................................................................... 427
Fertility and Subfertility ......................................................................................................................................... 433
Contraception........................................................................................................................................................ 441
The Menopause and Post-reproductive Health..................................................................................................... 446
Disorders of Early Pregnancy ................................................................................................................................. 452
Obstetrics ............................................................................................................................ 457

The History and Examination in Obstetrics............................................................................................................ 457
Antenatal Care ....................................................................................................................................................... 460
Congenital Abnormalities and their Identification................................................................................................. 463
Infections in Pregnancy ......................................................................................................................................... 465
Hypertensive Disorders in Pregnancy .................................................................................................................... 470
Other Medical Disorders in Pregnancy .................................................................................................................. 476
Red Blood Cell Isoimmunisation ............................................................................................................................ 488
Preterm Delivery ................................................................................................................................................... 491
Antepartum Haemorrhage .................................................................................................................................... 495
Foetal Growth, Compromise and Surveillance ...................................................................................................... 498
Abnormal Lie and Breech Presentation ................................................................................................................. 503
Multiple Pregnancy ............................................................................................................................................... 505
Labour – Mechanism ............................................................................................................................................. 508
Labour – Management .......................................................................................................................................... 512
Labour – Special Circumstances ............................................................................................................................ 518
Instrumental and Operative Delivery .................................................................................................................... 521
Obstetric Emergency ............................................................................................................................................. 524
The Puerperium ..................................................................................................................................................... 526
Ethics & Legal Issues............................................................................................................ 531

Basic surgical skills, surgical procedures and postoperative care ........................................ 533
Psychiatric Learning Objectives ............................................................. 534

Introduction to Psychiatry ..................................................................................................................................... 534
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Psychiatric Assessment.......................................................................................................................................... 540
Mental Health Legislations .................................................................................................................................... 548
Psychopathology ................................................................................................................................................... 551
Psychosis ............................................................................................................................................................... 555
Depression............................................................................................................................................................. 565
Mania and Bipolar Affective Disorder.................................................................................................................... 569
Mood Disorders, Suicide & Self-Harm ................................................................................................................... 573
Health Anxiety, Somatisation & Medically Unexplained Symptoms ...................................................................... 580
Eating Disorders .................................................................................................................................................... 584
Anxiety Disorders & Reaction to Stress and Trauma ............................................................................................. 588
Psychotherapy ....................................................................................................................................................... 596
Personality Disorders............................................................................................................................................. 601
Alcohol & Substance Misuse ................................................................................................................................. 606
Psychiatric Emergencies ........................................................................................................................................ 624
Child & Adolescent Psychiatry ............................................................................................................................... 631
Intellectual Disabilities ........................................................................................................................................... 635
Perinatal Psychiatry ............................................................................................................................................... 641
Health Care of Later Life Learning Objectives........................................ 644

Generic Skills ......................................................................................................................................................... 644
Population Ageing ................................................................................................................................................. 645
Healthy Ageing ...................................................................................................................................................... 648
Care Givers ............................................................................................................................................................ 654
Long Term Care ..................................................................................................................................................... 657
Legal & Ethical Issues............................................................................................................................................. 661
Assessment of an Older Patient ............................................................................................................................ 665
Iatrogenic Disease ................................................................................................................................................. 668
Rehabilitation ........................................................................................................................................................ 674
Stroke Rehabilitation ............................................................................................................................................. 678
Falls........................................................................................................................................................................ 690
Incontinence.......................................................................................................................................................... 700
Pressure Sores ....................................................................................................................................................... 708
Nutrition ................................................................................................................................................................ 715
Terminal Care ........................................................................................................................................................ 716
Depression in Old Age ........................................................................................................................................... 717
Dementia ............................................................................................................................................................... 720
Delirium ................................................................................................................................................................. 725
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Paranoid Disorder in Old Age ................................................................................................................................ 730
Elder Abuse ........................................................................................................................................................... 731
Parkinson’s Disease & Movement Disorders ......................................................................................................... 734
Osteoporosis ......................................................................................................................................................... 739
Specials Learning Objectives ................................................................. 741

Dermatology ....................................................................................................................... 741
General .................................................................................................................................................................. 741
Examination of the Skin ......................................................................................................................................... 742
The Skin & Systemic Disease ................................................................................................................................. 746
Benign & Malignant Melanocytic Lesions .............................................................................................................. 755
Non-Melanoma Skin Cancers & Benign Skin Tumours .......................................................................................... 758
Leg Ulceration ....................................................................................................................................................... 767
Eczema .................................................................................................................................................................. 772
Bacterial & Viral Infections .................................................................................................................................... 776
Psoriasis ................................................................................................................................................................. 781
Acne....................................................................................................................................................................... 785
Fungi & Infestations............................................................................................................................................... 792
Dermatology Photos............................................................................................................ 796

The Skin and Systemic Disease .............................................................................................................................. 796
Benign and Malignant Melanocytic Lesions .......................................................................................................... 801
Non-Melanoma Skin Cancers and Benign Skin Tumours ....................................................................................... 806
Leg Ulceration ....................................................................................................................................................... 811
Eczema .................................................................................................................................................................. 814
Bacterial and Viral Infection .................................................................................................................................. 818
Psoriasis ................................................................................................................................................................. 826
Onycholysis............................................................................................................................................................ 828
Subungal Hyperkeratosis ....................................................................................................................................... 828
Nail Pitting ............................................................................................................................................................. 828
Acne....................................................................................................................................................................... 829
Fungi and Infestations ........................................................................................................................................... 831
Ophthalmology.................................................................................................................... 835
Basic Clinical Skills.................................................................................................................................................. 835
Ophthalmoscopy ................................................................................................................................................... 836
Visual Field Examination ........................................................................................................................................ 838
Eye Movements ..................................................................................................................................................... 839
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Examination of Pupillary Reflexes.......................................................................................................................... 841
Refractive Errors & Visual Acuity Assessment ....................................................................................................... 844
Introduction to Ophthalmology ............................................................................................................................. 847
Gradual Visual Loss ................................................................................................................................................ 852
Glaucoma .............................................................................................................................................................. 857
Ocular Trauma ....................................................................................................................................................... 862
Low Vision & Visual Rehabilitation ........................................................................................................................ 864
Acute Painless Loss of Vision ................................................................................................................................. 867
Acute Red Eye........................................................................................................................................................ 870
Neuro-ophthalmology ........................................................................................................................................... 874
Common Medical Retinal Disease ......................................................................................................................... 878
Orthoptics.............................................................................................................................................................. 884
Orbital Diseases ..................................................................................................................................................... 887
ENT...................................................................................................................................... 892
General Notes........................................................................................................................................................ 892
Head and Neck Teaching ....................................................................................................................................... 893
Head & Neck .......................................................................................................................................................... 896
Otology .................................................................................................................................................................. 915
Vertigo ................................................................................................................................................................... 928
Facial Nerve ........................................................................................................................................................... 933
Rhinology ............................................................................................................................................................... 940
Upper Airway ......................................................................................................................................................... 952
Voice Disorders...................................................................................................................................................... 955
Community Learning Objectives............................................................ 965

Respiratory .......................................................................................................................... 965
Asthma .................................................................................................................................................................. 965
COPD ..................................................................................................................................................................... 968
CVS ...................................................................................................................................... 972

Hypertension ......................................................................................................................................................... 972
Atrial Fibrillation .................................................................................................................................................... 974
Gastroenterology ................................................................................................................ 977

Reflux/Dyspepsia ................................................................................................................................................... 977
Irritable Bowel Syndrome ...................................................................................................................................... 979
Psychiatry ............................................................................................................................ 981

Dementia ............................................................................................................................................................... 981
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Depression & Anxiety ............................................................................................................................................ 983
Endocrine ............................................................................................................................ 986

Type 2 Diabetes ..................................................................................................................................................... 986
Thyroid Disorders .................................................................................................................................................. 988
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CHILD HEALTH LEARNING OBJECTIVES

RESPIRATORY SYSTEM
ASTHMA
Understand the natural history of asthma during childhood
• Asthma is a disease of chronic airway inflammation, bronchial hyper-reactivity and reversible airway
obstruction  it affects 10% of the population  can develop at any age, but 50% of paediatric cases present
before 10yrs  there is often family history of asthma or atopic disease
• There are two patterns of wheezing
o Transient early wheezing  begins in infants with respiratory infection  if episodes remain mild and
infrequent, then asthma does not usually persist into school years  result of small airways being
more likely to narrow and obstruct due to inflammation/aberrant immune response to viral infection
o Recurrent and persistent wheezing  can affect pre-school and school-aged children  may be
triggered by a stimuli and presence of IgE in response to inhaled allergens  patients have persistent
symptoms and decreased lung function, with a strong association to other atopic diseases
PATHOPHYSIOLOGY
• Underlying asthma tendency  airway hyper-reactivity, genetic predisposition or increased IgE levels (atopy)
• Triggers
o URTI
o Exercise
o Excitement/upset
o Cigarette smoke
o Allergens  housedust mites, pollen and animal dander
• Pathophysiological triad  bronchoconstriction, mucus plugging and airway inflammation & oedema
• Clinical triad  cough, wheeze and shortness of breath
Be familiar with the key features of history and examination that support a diagnosis of asthma
• History
o Cough after exercise or sometimes in the early morning (disturbing sleep)
o Shortness of breath
o Sputum production
o Limitation in exercise performance
• Examination  present in chronic condition
o Barrel-shaped chest
o Hyperinflation
o Wheeze and prolonged expiration
• Chest X-ray
o Hyperinflation
o Flattened hemi-diaphragm
o Peribronchial cuffing  bronchial wall thickening due to excess fluid or mucus
o Atelectasis  partial collapse or incomplete inflation
• Spirometry
o Peak expiratory flow rate (PEFR) <80% predicted for height
o FEV1/FVC <80% predicted
o Bronchodilator response to Beta-agonist therapy  15% increase in FEV1 or PEFR
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Be familiar with the other common clinical conditions that can mimic asthma
• Bronchiolitis • Bronchiectasis  focal signs
• Foreign body in the airway • Post-nasal drip  cough at night
• Allergic rhinitis • Gastroesophageal reflux  accompanied by
• Croup  inspiratory stridor and wheeze vomiting
• Infection  aspergillosis, viral or bacterial • Ciliary dyskinesia
• Vocal cord dysfunction  mimics steroid • Sinonasal manifestation of CF  especially if
refractory asthma present since birth
Be able to manage an acute exacerbation of asthma

• Bronchodilators  start with short-acting -agonist (Salbutamol), but consider adding anti-muscarinc
(Ipratropium) if not responding
• Mild/moderate
o Bronchodilators via spacer  up to 10 puffs at a time
o Oral prednisolone  3-day course
• Severe
o Oxygen by face mask
o Nebulized bronchodilators with oxygen
o Oral prednisolone  3-day course
• Severe attack not responding
o Admit to ICU or high dependency area
o IV -agonist
o IV hydrocortisone
o IV methylxanthine (Aminophylline)
Know the details of the drugs used to treat acute and chronic asthma and understand their mechanism of action
• -agonist
o Examples  Salbutamol/Terbutaline (SABA) or Salmeterol/Formoterol (LABA)
o MoA  these act on  receptors to directly cause bronchodilation  less effective in very young
children as they have fewer active  receptors
• Anti-muscarinics
o Examples  Ipratropium bromide
o MoA  these have a similar effect to -agonists, but act via a different receptor to achieve their
affect  sympathetic system
• Methlyxanthines
o Examples  Aminothylline or Theophylline
o MoA  a complicated pathway that leads to the relaxation of bronchiole smooth muscle
o ADRs  vomiting, sleep disturbance, headaches, poor concentration and arrhythmias
• Corticosteroids
o Examples  Budesonide/Beclometasone/Fluticasone (inhaled) or Prednisolone (oral)
o MoA  these are a preventative treatment that act to prevent the creation of inflammatory proteins
and hence reduce any response causes by the release of IgE or other chemical
o ADRs  impaired growth, adrenal suppression, oral candidiasis and altered bone metabolism
• Leukotriene inhibitors
o Examples  Montelukast or Zafirlukast
o MoA  taken orally in children <5yrs instead of LABA  drugs is an antagonist that blocks the action
of leukotriene and hence reduces the bronchoconstriction it otherwise causes
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• Anti-IgE injections
o Examples  Omalizumab
o MoA  a monoclonal antibody designed to target IgE and prevent atopic reaction
Know the 5 steps of the SIGN/NTS guidelines for the management of asthma
Be able to assess asthma control during childhood

• Look for common signs of poor asthma control mentioned and also regularly monitor PEFR
• Assess compliance, correct usage and if the correct regime is being used
• Patient education is very important, as well as correct inhaler technique
Be able to advise parents about how to care for a child with asthma
• Provide an asthma management plan  educate on when to use drugs, how to use them, what they are for,
how often/much and what to do if the asthma gets worse
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• The child and parent need to know that increasing cough, wheezing, breathlessness and difficulty in walking,
talking, sleeping or decreasing relief from bronchodilators all indicate poorly controlled asthma
• A supply of oral steroids can also be provided if necessary
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CHEST INFECTIONS
Understand the aetiology and natural history of bronchiolitis
• 90% of cases are aged 1-9 months  rare >1yrs old
• Most common in the winter months (Nov-Mar) and higher in urban areas
• Respiratory syncytial virus (RSV) is cause in 80% of cases  other 20% are accounted for by
o Human metapneumovirus
o Parainfluenza virus
o Rhinovirus
o Adenovirus
o Influenza virus
o Mycoplasma pneumoniae
• Severe bronchiolitis  associated with combined infection with RSV and metapneumovirus  high risk
children include premature infants who develop bronchopulmonary dysplasia or with underlying lung disease
(CF or congenital heart disease)
• Risk factors
o Older siblings
o Nursery attendance
o Passive smoking  particularly maternal
o Prematurity or low birth weight
o Chronic lung disease  CF, bronchopulmonary dysplasia
o Immunocompromoise
• Breast-feeding is considered protective and should be encouraged
Recognise and be able to describe the clinical features of bronchiolitis and be able to relate these to normal physiology
• Normal symptoms of a viral URTI is 1st symptom (mild rhinorrhea, cough and fever)  followed by dry cough
and increasing breathlessness
• Feeding difficulties are associated with increasing dyspnea  often the reason for admission to hospital
• Apnoea may occur, especially in young infants
• Characteristic findings
o Sharp, dry cough
o Tachypnoea
o Subcostal and intercostal recession
o Hyperinflation of the chest  prominent sternum or liver displaced downwards
o Fine end-inspiratory crackles or prolonged expiration
o High-pitched wheezes  expiratory > inspiratory
o Tachycardia
o Cyanosis or pallor
• Chest X-ray  only performed if there is a diagnostic uncertainty or an atypical course
o Non-specific and patchy infiltrates o Flattened diaphragm
o Focal atelectasis o Increased anteroposterior diameter
o Air trapping o Peribronchial cuffing
Know how to treat acute bronchiolitis.

• Management for bronchiolitis is mostly supportive, delivered in primary care and managed at home
attention to fluid input, nutrition and temperature control
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• Children should be referred to hospital where there is
o Poor feeding o Nasal flaring or grunting
o Lethargy o Severe chest wall recession
o History of apnoea o Cyanosis
o Respiratory rate >70 breaths/min o Saturations <94%
• Humidified oxygen is delivered via nasal cannulae with the concentration determined by pulse oximetry 
monitored for apnoea
• Antibiotics, steroids or nebulised bronchodilators have not been shown to reduce the severity or duration of
the illness
• Fluids may be given by nasogastric tube or IV
• If assisted ventilation is required it may be via nasal or facemask CPAP or full ventilation
Be able to advise parents about how to care for a child with a bronchiolitis.
• RSV is highly infectious and infection control measures (good hand hygiene) are needed to prevent cross-
infection to other infants
• Most infants recover from the acute infection within 2 weeks  ½ will have recurrent episodes of cough and
wheeze
• A monoclonal antibody to RSV may be given  its use is limited by cost and the need for multiple
intramuscular injections
• General advice
o Supportive
o Warning signs for admission
o Infection risk
o What to expect
Know and understand the aetiology and natural history of pneumonia including knowledge of the common causative
organisms
• Infection of the lower respiratory tract and lung parenchyma that leads to consolidation
• Incidence of pneumonia peaks in infancy and old age  major cause of childhood mortality in resource-poor
countries
• Viral infections are most common in infants and bacterial infections are most common in older children
• In 20-60% of children no pathogen can be found
• Common bacterial agents
o Neonates  organisms from mother’s genital tract  group B streptococcus, E.coli, Klebsiella, Staph.
Aureus (Gram –ve enterococci)
o Infants  Strep. pneumoniae, Chlamydia trachomatics, Haemophilus influenzae  more commonly
respiratory viruses (RSV)
o School age  Strep pneumoniae, Staph aureus, group A streptococcus, Bordetella pertussis,
Mycoplasma pneumoniae
• A conjugate vaccine with immunogenicity against 13 of the most common serotypes of Streptococcus
pneumoniae is now included in the routine immunization schedule in the UK
Recognise and be able to describe the clinical features of pneumonia and be able to relate these to normal physiology.
• May have had a recent URTI with fevers & difficulty breathing other symptoms may include cough, lethargy,
poor feeding and an ‘unwell child’
• Localised chest pain, abdominal or neck pain are a feature of pleuritic irritation  suggests bacterial infection
• Typical history
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o Temperature >38.5oC
o Cough with sputum production in >7yrs old
• Examination
o Signs of respiratory distress  tachypnoea, grunting, intercostal recession, nasal flaring  RR >70 in
infants and >50 in children
o Desaturation and cyanosis  SpO2 <92% in air
o General health & lethargy
o Auscultation  dullness to percussion, crackles, decreased breath sounds, tactile vocal fremitus or
bronchial breathing  end-inspiratory respiratory coarse crackles
• Investigations
o CXR  can confirm diagnosis, but cannot differentiate between bacterial or viral pneumonia
o Nasopharyngeal aspirate  can identify viral causes
o Blood tests and APRs  unhelpful at differentiating between as may be altered in both
Have knowledge of the treatments available to children with pneumonia including antibiotics, oxygen and
physiotherapy.
• Most can be managed at home  indication for admission
o SpO2 <93%
o Severe tachypnoea
o Difficulty breathing, grunting or apnoea
o Not feeding or family unable to provide appropriate care
• General supportive care  O2 for hypoxia and analgesia for pain  IV fluids if dehydrates or correct
electrolyes
• Antibiotic  determined by age, severity, host factors and appearance of CXR
o Newborns  broad spectrum IV Abx
o <5yrs  Strep. Pneumoniae is most common
▪ 1st line  oral amoxicillin
▪ 2nd line
• Co-amoxiclav or Cefaclor for typical cases
• Erythromycin, clarithromycin or azithromycin for atypical cases
o >5 yrs  Mycoplasma pneumoniae is most common
▪ 1st line  oral Amoxicillin or macrolide (Erythromycin) if mycoplasma or chlamydia is
suspected
▪ 2nd line  if Staph. Aureus is suspected consider using macrolide or combination of
Flucloxacillin with Amoxicillin
o Severe pneumonia  Co-amoxiclav, Cefotaxime or Cefuroxime IV
• Chest physiotherapy is generally not beneficial in children with pneumonia and should not be performed
Be able to advise parents about how to care for a child with a chest infection
• Supportive care
• Analgesia
• Antibiotics
• Signs & symptoms of concern
• Reassurance
Know the aetiology and natural history of pertussis

17
• Caused by Bordetella parapertussis  causes epidemics every 3-4yrs
• Other causes  Mycoplasma pneumoniae, Chlamydia or adenovirus
• Catarrhal phase (1-2 weeks)  mild symptoms with fever, cough and coryza
• Paroxysmal phase (2-6 weeks)  develops characteristic paroxysmal or spasmodic cough followed by a
inspiratory whoop
• Convalescent phase (2-4 weeks)  symptoms gradually decrease, but may persist for many months
• Spasms of cough are often worse at night  may culminate in vomiting and child may go red or blue in the
face, with mucus from nose & mouth
• Whoop may be absent in infants  but there may be apnoea
• Examinations & investigations
o Eyes  subconjunctival haemorrhage
o CXR
o Blood count  leucocytosis and lymphocytosis
• Complications include pneumonia, convulsions and bronchiectasis  uncommon, but associated with
significant mortality
• Children suffering severe spasms of cough or cyanotic attack should be admitted to hospital and isolated
from other children
• Diagnosis  culture of organisms on per-nasal swab  marked lymphocytosis on blood film
• Management  Erythromycin for 14 days (or Clarithromycin for 7 days)  reduce infectivity, but may have
minimal effect on the cough
Understand the effect of immunisation on presentation of clinical features.

• Immunisation reduces the risk of developing pertussis and the severity of disease in those affected
• Does not guarantee protection  level of protection declines steadily during childhood
• If erythromycin is started in the catarrhal phase it can reduce symptoms and eradicate pertussis organisms
Be able to advise parents of a child with a suspected case of pertussis.

• Siblings, parents and school contacts may develop a similar cough
• Close contacts should receive prophylactic Erythromycin and unvaccinated infants should be vaccinated
• Symptoms will eventually resolve  advise about common symptoms and explain symptoms that may be
worrying
Be able to recognise the clinical features of tuberculosis in children.

• TB should be considered in children from endemic areas  as well as those at risk of immunodeficiency or
taking immunosuppressive agents
• TB is a notifiable disease  contact tracing is required
• BCG appears to be protective against military spread  no longer given routinely
• Caused by Mycobacterium tuberculosis  spread via droplet infection and infect site of entry & regional
lymph nodes
• Pathological sequence:
o 4-8 weeks
▪ Febrile illness
▪ Erythema nodosum  red swellings in fat tissue
▪ Phlyctenular conjunctivitis  allergic conjunctivitis
o 6-9 months
▪ Progressive healing of primary complex
▪ Effusion  focus may rupture into pleural space
▪ Cavitation  focus may rupture into bronchus
18
▪ Coin lesion on CXR  focus may enlarge
▪ Regional lymph nodes may obstruct bronchi or erode into bronchus/pericardial sac
▪ Miliary spread
ASYMPTOMATIC
• Nearly 50% of infants and 90% of older children show minimal signs & symptoms of infection
• Local inflammatory reaction limits the progression of infection  disease remains latent and therefore may
develop into active disease at a later time
• Mantoux test may be positive and is sufficient evidence to initiate treatment
SYMPTOMATIC
• Symptoms appear when the local host response fails to contain the inhaled bacilli  allows spread to regional
lymph nodes
• Lung lesions plus the lymph node constitutes the ‘Ghon or primary complex’
• When the host’s cellular immune system response to the infection, mycobacterial replication diminishes, but
systemic symptoms develop
o Fever
o Anorexia and weight loss
o Cough
o CXR changes
• Primary complex usually heal and calcifies  inflammatory reaction may lead to local enlargement of
peribronchial lymph nodes causing bronchial obstruction with lung consolidation & collapse
• Although primary infection most commonly occurs in the lung  may also involve other organs
o Gut
o Skin
o Superficial lymph nodes  caseate forming cold abscess
• Post-primary TB  may present as local disease or widely disseminated miliary TB to bones, joints, kidneys,
pericardium and CNS  in infants and children seeding in CNS may cause tuberculous meningitis, which is
associated with significant morbidity and mortality if treatment is not initiated early
Have a knowledge of treatment options required and the difficulties in ensuring adherence in children.
• Triple or quadruple therapy is recommended  decreased to 1st two drugs after 2 months
o Rifampicin
o Isoniazid
o Pyrazinamide
o Ethambutol
• Treatment for uncomplicated pulmonary or lymph node TB is usually for 6 months  longer treatment
courses are required for TB meningitis or disseminated disease
• After puberty  pyridoxine is given weekly to prevent the peripheral neuropathy associated with isoniazid
therapy  this complication does not occur in young children
• Tuberculous meningitis  dexamethasone is given for 1st month to decrease the risk of long-term sequelae
• Asymptomatic children with a +ve Mantoux test are seen to be latently infection  treated with rifampicin &
isoniazid for 3 months  this decreases the risk of reactivation of infection later in life
• Adherence to drug therapy can be problematic, but is essential for successful treatment
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CYSTIC FIBROSIS
Know and understand the aetiology and natural history of cystic fibrosis
GENETICS
• Autosomal recessive genetic condition  1/2500 live births and 1/25 carriers every year
• Average life expectancy has increased from a few years to mid-30s  projected life expectancy for current
newborns in 40s
• The main problem in CF is a defective membrane protein  cystic fibrosis transmembrane conductance
regulator (CFTR)  it is a cyclic AMP-dependent chloride channel
• CFTR gene is located on chromosome 7  there are thousands of different gene mutations that cause a
number of distinct defects in CFTR  most common defect is F508
• Correlation between genotype and phenotype is weak in CF lung disease, but much stronger in
gastrointestinal disease  this suggests additional factors are important in determining the severity of lung
disease  including microbial pathogens, passive smoking, social deprivation and other ‘modifier’ genes
PATHOPHYSIOLOGY
• Multisystem disorder due to abnormal ion transport across epithelial cells
• Airways  reduction in airway surface mucus layer  consequent impaired ciliary function and retention of
mucopurulent secretions
• Chronic endobronchial infections ensure with specific organisms  Pseudomonas aeruginosa
• Defective CFTR causes dysregulation of inflammation and defence against infection
• Intestine  thick viscid meconium is produced leading to meconium ileus in 10-20% of infants
• Pancreatic ducts can become blocked by thick secretions  leads to pancreatic enzyme deficiency and
malabsorption
• Abnormal function of sweat glands  results in excessive concentrations of sodium & chloride in sweat (salty)
Recognise and be able to describe the clinical features of cystic fibrosis and be able to relate these to normal physiology
• Newborn  diagnosed through newborn • Young child
screening (heel-prick) o Bronchiectasis
• Infancy o Rectal prolapse
o Meconium ileus in newborn period  o Nasal polyp
inspissated meconium causes o Sinusitis
intestinal obstruction with vomiting, o Anorexia
abdominal distension and failure to • Older child & adolescent
st
pass meconium for the 1 few days of o Allergic bronchopulmonary
life aspergillosis (ABPA)
o Prolonged neonatal jaundice o Diabetes mellitus
o Failure to thrive o Cirrhosis and portal hypertension
o Recurrent chest infections  o Distal intestinal obstruction  DIOS,
Staphylococcus aereus, Haemophilus meconium ileus equivalent
influenzae with subsequent infections o Pneumothorax or recurrent
of Pseudomonas aeruginosa or haemoptysis
Burkholderia species o Sterility in males
o Malabsorption steatorrhoea o Arthropathy
o Hypoproteinaemia and oedema o Psychological problems
• Chronic chest infections result in viscid mucus in the smaller airways leading to damage of the bronchial wall,
bronchiectasis and abscess formation  may have persistent, loose cough and productive purulent sputum
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 on examination there is hyperinflation of the chest due to air trapping, coarse inspiratory crepitations
and/or expiratory wheeze  there may also be finger clubbing
• Pancreatic exocrine insufficiency  lipase, amylase and proteases  results in maldigestion and
malabsorption leading to failure to thrive and passing frequent large, pale, very offensive and greasy stools 
can be diagnosed by demonstrating low elastase in faeces
• Meconium ileus  treated with gastrografin enemas
• Investigations
o Sweat test  increased chloride levels (>60mmol/L)
o CXR  hyperinflation, increased AP diameter, bronchial dilation, cysts, linear shadow and infiltrates
o Lung function  obstructive pattern with decreased FVC and increased lung volume
Be aware of the treatments available to children with cystic fibrosis including medications, physiotherapy and nutrition
• The management of the child with CF requires close co-operation between local hospitals and regional
centres  patients and their families gain much from expert clinics, and from other patients and their families
• Effective management requires a multidisciplinary team approach, which should include:
o Paediatric pulmonologist o Primary care team
o Physiotherapist o Teacher
o Dietician o Psychologist
o Nurse liaison or practitioner in CF
• FEV1 is an indicator of clinical severity and declines with disease progression
• With regular treatment, most children should have no respiratory symptoms  should have physiotherapy
from diagnosis
PULMONARY CARE
• All children with CF should have physiotherapy twice a day  parents and older children are taught how to do
the following
o Chest percussion
o Postural drainage
o Self-percussion
o Deep breathing exercises
o Use of flutter or acapello device
• Antibiotic therapy
o When well  oral Abx (flucloxacillin) against Staphylococcus aureus & Haemophilus influenzae
o Acute exacerbations  14 day course of IV Abx through an indwelling long-line that should last
several weeks
o Pseudomonas aeruginosa  nebuliser for those chronically infected
• Other therapies  annual flu vaccine, bronchodilators, mucolytics (before physio) and oral azithromycin
GASTROINTESTINAL CARE
• For distal intestinal obstruction
o Lactulose  1mL/kg/day
o Oral acetylcysteine solution  prophylaxis 15mL of 10%/day in <7yrs or 30mL in >7yrs  treatment
doses and x2-3 larger
o Gastrografin  single oral dose treatment with fluid intake encouraged after
• Pancreatic insufficiency  treated with oral enteric-coated pancreatic supplements (Creon) taken will all
meals and snacks  Ranitidine or omeprazole may be useful if response is unsatisfactory
• High calorie diet  120-150% of normal energy intake
• Salt supplements  salt depletion is risk in 1st year and summer months
21
• Fat-soluble vitamin supplements  multivitamins, vitamin E and vitamin K (liver disease)
22
ENT
Be able to recognise the clinical features of epiglottitis.
• Acute epiglottitis  life-threatening swelling of the epiglottis and septicaemia due to Haemophilus influenzae
type B infection  most commonly in children 1-6yrs  now rare due to routine HiB immunisation
• There is intense swelling of the epiglottis and surrounding tissue associated with septicaemia  it is
important to distinguish clinically between epiglottitis and croup, as they require different treatment
• The onset is often very acute
o Pyrexic in an ill, toxic-looking child
o Intensely painful throat that prevent swallowing or speech  saliva drools down chin
o Soft inspiratory stridor and rapidly increasing respiratory difficulty over hours
o Child sits immobile, upright and with an open mouth to optimise the airway
• Management is in ICU after endotracheal intubation  following by blood cultures and IV antibiotics
o 2nd or 3rd generation Cephalosporin IV for 7-10 days Cefuroxime, Ceftriaxome or Cefotaxime
o Rifampicin prophylaxis to close contacts
Be able to distinguish epiglottitis from other causes of upper airway obstruction
Epiglottitis Croup
Time Course Hours Days
Prodrome None Coryza
Cough Slight if any Barking
Feeding No Can drink
Mouth Drooling saliva Close
Toxic Yes No
Fever >38.5oC <38.5oC
Stridor Soft Rasping
Voice Weak or silent Hoarse
Recognise the importance of otitis media, be aware of causative organisms and the treatment options available
• Otitis media  infection of the middle ear associated with pain, fever and irritability  examination will
show red and bulging tympanic membrane with loss of normal light reflex
• Most common between 6-12 months  due to short, horizontal Eustachian tubes
• Causative organisms include:
o Viruses  RSV and rhinovirus
o Pneumococcus
o Group A  haemolytic streptococcus
o Haemophilus influenza
• Diagnosis  only by examination of tympanic membrane  bright red and bulging with loss of normal light
reflex
• Complications  mastoiditis and meningitis (uncommon)
• Management  broad spectrum antibiotics (amoxicillin) and analgesia (ibuprofen or paracetamol) 
decongestants may also help
• Most cases of acute otitis media resolve spontaneously, but antibiotics marginally shorten the duration of
pain and reduce risk of hearing loss
• Recurrent ear infections can lead to secretory otitis media
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• Secretory otitis media  middle ear effusion without symptoms and signs of acute otitis media  may last
months and the effusions can be serious, mucoid or purulent  on examination the drum may be retracted
and does not move easily, with fluid effusions visible behind the tympanic membrane (opaque)
Be able to advise parents about how to care for a child with acute otitis media
• Analgesia
• Support
• Reassurance
• Antibiotics if not clear in 2-3 days (acute)
Know and understand the aetiology and natural history of tonsillitis including knowledge of the common causative
organisms
• Tonsilitis is a form of pharyngitis  there is intense inflammation of the tonsils associated with purulent
exudate
• Tonsilitis associated with purulent exudate  often due to group A -haemolytic streptococcus or EBV
(infectious mononucleosis)
• It is not possible to distinguish clinically between viral and bacterial causes
• Bacterial infections may also cause
o Headache
o Apathy
o Abdominal pain
o White tonsillar exudate
o Cervical lymphadenopathy
• Antibiotics are often prescribed for severe pharyngitis and tonsillitis (even though 2/3 are viral)  penicillin or
erythromycin  10 day course required to eradicate organism and prevent rheumatic fever, but not indicated
in UK as rheumatic fever is very rare
• Severe cases may need hospital admission for IV fluid and analgesia is swallowing is prohibited
• NB  Amoxicillin is best avoided as may cause widespread maculopapular rash if infection is due to infectious
mononucleosis
Be able to advise parents about how to care for a child with tonsillitis
• Supportive measures  analgesia and reassurance
• Surgical option  if repeat infections (>5/year)  usually indications include
o Recurrent otitis media with effusion
o Recurrent severe tonsillitis
o Peritonsillar abscess
o Obstructive sleep apnoea
Know and understand the aetiology and natural history of URTI including knowledge of the common causative
organisms
• Approx 80% of all respiratory infections involve only the nose, throat, ears or sinuses
• URTI covers several different conditions
o Common cold  coryza
o Sore throat  pharyngitis, tonsillitis
o Acute otitis media
o Sinusitis  relatively uncommon
• Commonest presentation  combination of nasal discharge/blockage, fever, painful throat and earache 
cough may also be present
24
• URTIs may cause
o Difficulty in feeding  infants are obligate nasal breathers
o Febrile convulsions
o Acute exacerbations of asthma
• Hospital admissions  exclude serious infections, reduced feeding or parental reassurance
THE COMMON COLD (CORYZA)

• Commonest infection in childhood  mostly self-limiting, so have no specific curative treatment
• Classic features  clear or mucopurulent nasal discharge and blockage
• Commonest pathogens  rhinovirus, coronavirus and RSV
• Fever & pain  best treated with paracetamol and ibuprofen  antibiotics are not useful as viral in origin
SORE THROAT (PHARYNGITIS)

• Inflammation of pharynx and soft palate  local lymph nodes may be enlarged and tender
• Commonest pathogens  adenovirus, enterovirus, rhinovirus and group A -haemolytic streptococcus (older
children)
SINUSITIS
• Infection of paranasal sinuses  may occur with viral URTIs
• Secondary bacterial infection (uncommon)  pain, swelling and tenderness over the cheek from infection of
maxillary sinus
• Frontal sinusitis  uncommon in first 10yrs of life as do not develop until late childhood
• Treatment  antibiotics and analgesia in addition to topical decongestants
Know the physiological consequences of fever and the therapeutic options and indications for treatment of fever during
childhood
• Most febrile children have a brief, self-limiting viral infection  clinical problems lies in indentifying the
relatively few children with a serious infection which needs prompt treatment
• How is fever identified in children?  thermometer in the axilla  can underestimate temperature by 0.5oC
• How old is the child?  <3 months often present with non-specific clinical features and have bacterial
infections  if cause of fever is unclear then an urgent septic screen and IV antibiotics are required
• Are there risk factors for infection?
o Illness of other family members
o Specific illness prevelant in the community
o Unimmunised
o Recent travel abroad  malaria, typhoid
o Contact with animals  brucellosis
o Increased susceptibility from immunodeficiency  nephrotic syndrome, post-autosplenectomy (sickle
cell) or primary immune deficiency
• How ill is the child?  red flags suggest serious illness
o Fever  >38oC if <3 months or >39oC if 3-6 months
o Colour  pale, mottled, blue
o Level of conscious  neck stiffness, bulging fontanelle, status epilepticus, focal neurological signs or
seziures
o Significant respiratory distress  recession, stridor
o Bile-stained vomiting  obstruction
o Severe dehydration or shock
• Is there a rash?  often accompany febrile illness  red flag – meningococcal septicaemia
25
• Is there a focus for infection?  if no focus is identified it may be a prodromal phase of viral illness, but may
also indicate serious bacterial infection (UTI or septicaemia)
MANAGEMENT
• Children who are not seriously ill can be managed at home with regular review by the parents  give clear
instructions on when to contact GP (eg. if gets worse)
• Children who are significantly unwell, particularly with no obvious focus  require further investigation,
observation and treatment
• Septic screen
o Blood culture
o FBC  including differential WCC
o Acute phase proteins  CRP
o Urine sample
o Consider  CXR, LP, rapid antigen screening (blood/urine/CSF), meningococcal/pneumococcal PCR
(blood/CSF) or virus PCR for HSV or enterovirus (CSF)
• Parental antibiotics given immediately in seriously unwell children  3rd-generation cephalosporin
(cefotaxime or ceftriaxone) and ampicillin
• Aciclovir is given if HSV encephalitis is suspected
• Antipyretics  considered in children with fever who appear distressed or unwell  paracetamol or
ibuprofen  not thought to prevent febrile seizures, but are in NICE guidelines
Be able to advise parents about how to care for a child with an URTI
• Advice on management
• Reassurance
• Signs to look for
Know and understand the aetiology and natural history of viral croup including knowledge of the common causative
organisms
• Laryngotracheobronchitis (Croup)  there is mucosal inflammation and increased secretions affecting the
airway  oedema of the subglottic area that is dangerous as can lead to tracheal narrowing
• Commonest cause  viral croup is >95% of cases  parainfluenza viruses, but also human
metapneumovirus, RSV and influenza
• Croup occurs from 6 months to 6 years  peak incidence 2yrs old in the autumn
• Typical features  barking cough, harsh stridor and hoarseness  usually preceded by fever and coryza 
start and are worse at night
Know the management options available for viral croup, including drugs, oxygen and supportive therapy.
• Child can usually manage at home, with stidor and recession reducing at rest  need to be observed closely
by parents for signs of increasing severity
• Oral dexamethasone, oral prednisolone and nebulised steroids (budesonide)  reduce severity and duration
of croup, and the need for hospitalization
• Severe cases with severe upper airway obstruction  nebulised adrenaline with oxygen provides transient
improvement  rebound symptoms may occur after 2hrs
• Only a few children require tracheal intubation since the introduction of steroid treatment
• Link between recurrent croup and atopy
Be able to advise parents about how to care for a child with viral croup
26
• Close monitoring
• Support
• Reassurance
Be able to recognise the clinical features of bacterial tracheitis

• Rare, but dangerous condition  similar to severe croup except child has high fever, appears toxic and has
rapidly progressive airway obstruction due to thick airway secretions
• Caused by Staphylococcus aureus
• Management  IV antibiotics and intubuation/ventilation if required
Be able to provide immediate care for a choking child
Be able to make a confident differential diagnosis for the various causes of upper airway obstruction
Condition Pathology Prevalence Aetiology Clinical features

Coryza URTI Any age Virus – rhino, corona, RSV Clear/mucopurulent nasal
discharge/blockage
Pharyngitis Inflammation of pharynx & Any age Virus – adeno, entero, rhino Sore throat
soft palate Bacterial – group A strep (older
children)
Tonsillitis Inflammation of tonsils (+/- Any age Group A -haemolytic strep Enlarged tonsils
purulent exudate) EBV (infectious mononucleosis) Purulent exudate
Otitis media Infection of middle ear 6-12 months Virus – RSV, rhino Pain in ear & fever
Bacterial – Pneumococcus,
H.influenzae, Moraxella
catarrhalis
Sinusitis Infection of paranasal Any age Occurs with viral URTI Pain, swelling and tenderness over
sinuses cheek
Croup Mucosal inflammation, 6 mnths – 6yrs Parainfluenza (main), human Barking cough
increased secretions & Peak – 2yrs metapneumovirus, RSV, influenza Harsh stridor and hoarseness
airway oedema Preceded fever/coryza
Epiglottitis Inflammation of epiglottis 1-6 years H.influenzae type B Associated septicaemia
Rapid onset (hrs)
Difficulty speaking/swallowing
Fever & soft stridor
Bacterial Inflammation fo trachea Any age Staphylococcus aureus High fever
tracheitis Appears toxic
Progressive airway obstruction
(thick secretions)
Pertussis Respiratory infection Any age Bordetella pertussis Phases – catarrhal, paroxysmal &
convalescent
Paroxysmal cough with inspiratory
whoop (apnoea in infants)
Bronchiolitis Inflammation of bronchioles 1-9 months Virus - RSV (80%), human Sharp, dry cough
metapneumo, parainfluenza, Chest hyperinflation
rhino, adeno, influenzae Fine end-inspiratory crackles
Mycoplasma pneumoniae High-pitched wheeze
Recession
Pneumonia LRTI Any age Virus & bacteria – varies with age Preceded by URTI
Fever
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RSV, Strep. Pneumoniae, Difficulty breathing
Mycoplasma pneumoniae, Cough
Mycobacterium tuberculosis, Lethargy
Group B strep Poor feeding
Asthma Chronic airway Any age Airway hyper-reactivity Cough
inflammation 50% <10 years Genetic predisposition Wheeze
Bronchial hyper-reactivity Increased IgE levels Shortness of breath
Reversible airway Interval symptoms (nocturnal
obstruction cough)
Viral-induced LRTI with wheeze <3 years Virus Cough & coryza
Wheeze Wheeze
Difficulty breathing/feeding
Fever
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SMOKE INHALATION
Understand the immediate danger posed by burns and smoke inhalation in relation to the anatomy of the airway and be
familiar with emergency protocols for their management
• When a person inhales a large amount of smoke the body’s normal defense mechanisms for removing
particulate matter are overcome  this means coughing and sneezing become practically useless
• The alveoli, and other parts of the respiratory tract, become coated in particulates which impair gas exchange
and reduce the amount of oxygen getting into the body
• Smoke can also be incredibly hot and inhalation burns are common to the very upper respiratory tract 
these burns around the airway can lead to swelling and occlusion of the airway further down the line
• Finally, smoke can contain many nasty chemicals (carbon monoxide or toxic fumes)  these can cause a
desaturation of haemoglobin and loss of consciousness
• Symptoms of smoke inhalation
o Cough
o Sore throat
o Headache
o Confusions
o Mucosal oedema  caused by burning of the mouth and throat
o Blue or cyanosed  asphyxia due to deposition of smoke in the lower lungs
o Increased RR accordingly
• To manage the patient should be taken to safety and place in fresh air before being given high flow and
humidified oxygen  100% oxygen helps to remove CO from blood quickly and reduces any poisoning affect
that may have had  CO is the leading cause of cardiac arrest and death before patients reach hospital 
50% of patients will need intubation and PEEP to maintain the airway
29
Cardiovascular System CP2 Learning Objectives Child Health
CARDIOVASCULAR SYSTEM
PRESENTATIONS
Be able to describe the presenting features of cardiac failure
• Signs • Symptoms
o Poor weight gain or ‘faltering growth’ o Breathlessness  particularly on
o Tachypnoea feeding or exertion
o Tachycardia o Sweating
o Heart murmur, gallop rhythm o Poor feeding
o Cardiomegaly o Recurrent chest infections
o Hepatomegaly
o Cool peripheries
Take a history and examination from a child with cardiac symptoms

• Cyanosis
• Clubbing of fingers or toes
• Pulse  rate, rhythm, character
• Inspection  distress, pre-cordial bulge, scars, ventricular impulse
• Palpation  thrill (palpable murmur), apex beat (4/5th intercostal space MCL), RV heave (LSE)
• Auscultation  heart sounds in all 4 areas (apex, LLSE, ULSE, URSE) and back  check for murmurs, loud
heart sounds, splitting of heart sounds
• Hepatomegaly Age Beats/min
<1 year 110 – 160
• Lung bases
2 – 5 years 95 – 140
• Femoral pulses
5 – 12years 80 – 120
• Blood pressure >12 years 60 – 100
• Capillary refill
Be able to consider the differential diagnosis of cardiac failure

• Heart failure may be manifested by symptoms of poor tissue perfusion alone (fatigue, poor exercise
tolerance, confusion) and/or by symptoms of congestion of circulation (dyspnea, pleural effusion, pulmonary
oedema, hepatomegaly, peripheral oedema) without evoking compensatory mechanisms
• The underlying pathophysiology mechanisms that lead to compromise of cardiac stroke volume, cardiac
decompensation and heart failure include
o Increased afterload  pressure work o Myocardial abnormalities
o Increased preload  volume work o Tachyarrhythmias
• 1 week of life  heart failure usually results from left heart obstruction (coarctation of aorta)  if
st
obstructive lesion is severe then arterial perfusion may be predominantly R-to-L via arterial duct  closure of
this duct leads to severe acidosis, collapse and death unless ductal patency is restored
• >1st week of life  progressive heart failure is most like due to L-to-R shunt  during following weeks, the
pulmonary vascular resistance falls causes progressive increase in L-to-R shun and increase pulmonary blood
flow  causes pulmonary oedema and breathlessness
• Symptoms will increase until 3 months, but may subsequently improve as the pulmonary vascular resistance
rises in response to L-to-R shunt
• If untreated, these children may develop Eisenmenger syndrome (irreversibly raised pulmonary vascular
resistance  shunt is now R-to-L cause a blue teenager  only treatment is heart-lung transplant
CAUSES OF HEART FAILURE

• Neonates  obstructive (duct-dependent) systemic circulation
30
o Hypoplastic left heart syndrome o Severe coarctation of the aorta
o Critical aortic valve stenosis o Interruption of the aortic arch
• Infants  high pulmonary blood flow • Older children & adolescents  R or L heart
o Ventricular septal defect failure
o Atrioventricular septal defect o Eisenmenger syndrome
o Large persistent ductus arteriosus o Rheumatic heart disease
o Cardiomyopathy
Outline the initial management of a child with cardiac failure

• The underlying cause of heart failure must be treated
• General measures
o Bed rest in semi-upright position  infants in chair/seat
o Supplemental oxygen  NOT in L-to-R shunt
o Diet  sufficient calorie intake
o Diuretics & ACE-I (captopril)  R-to-L shunt and high pulmonary flow
o Beta blockers & digoxin may also have a role to play
o Prostagladin infusion  in duct depedent circulation 
List the key features that distinguish innocent from pathologic murmur
PATHOLOGICAL HEART MURMUR
• All diastolic & pansystolic murmurs
• Late systolic murmurs
• Loud murmurs  >3/6
• Continuous murmurs
• Associated with cardiac abnormalities
• Abnormal S&Ss
o SOB o Cyanosis
o Tiredness/easy fatigue o Clubbing
o Failure to thrive o Hepatomegaly
INNOCENT HEART MURMUR

• Arises due to rapid flow and turbulence of blood through great vessels and across normal heart valves  does
not signify the presence of any underlying cardiac abnormality/pathology
• Characteristics
o Systolic in timing
o Short duration/low intensity sound
o Intensifies with increased cardiac output  exercise/fever
o May change in intensity with posture/head position
o Not associated with thrill or heave
o No radiation
o Asymptomatic patient
o Left sternal edge
• Types of innocent heart murmurs
o Venous hum  ‘machinery’ quality sound, ULSE  due to blood flow in great vessels
o Flow murmur  short systolic murmur, MLSE  often hear during acute illness with fever
o Musical murmur  systolic murmur, LLSE
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Describe the features of a venous hum
• Venous hum is a common and harmless condition found in children
• Heard above right clavicle and over right jugular vein  flow of blood causes the vein wall to vibrate causing a
humming
• Hum is heard throughout cardiac cycle  placing finger on jugular vein will abolish the sound
• Murmur may disappear if patient is supine or if the patient turns their head to one side
Following CVS examination, be able to diagnose common murmurs

• Murmurs and their characteristics are included in the individual sections for each congenital heart condition
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LEFT TO RIGHT SHUNTS

List the epidemiology, features and management of common types of acyanotic heart disease e.g. VSD/ASD/AS/PS
• Left to right shunts include
o Atrial septal defect
o Ventricular septal defect
o Persistent ductus arteriosis
ATRIAL SEPTAL DEFECT

• There are two main types of ASD  both present similarly
o Secundum ASD (80%)  defect in the centre of the atrial septum involving the foramen ovale
o Partial atrioventricular septal defect (pAVSD)  defect of the atrioventricular septum  characterized
by
▪ Inter-atrial communication between bottom end of atrial septum and atrioventricular valves
(primum ASD)
▪ Abnormal atrioventricular valves, with L atrioventricular valve with 3 leaflets and often
regurgitates
• Clinical features  often asymptomatic
o An ejection systolic murmur heard on ULSE  due to increased flow across pulmonary valve
o Fixed and widely split 2nd heart sound  due to right ventricular stroke volume being equal in both
inspiration & expiration
o With pAVSD  apical pansystolic murmur from atrioventricular valve regurgitation
VENTRICULAR SEPTAL DEFECT

• VSDs account for 30% of all congenital heart defects  it can be anywhere in the ventricular septum
(perimembranous or muscular)  considered according to size of the lesion
• Small VSDs  smaller than the aortic valve in diameter (3mm)
o Clinical features  asymptomatic, with loud pansystolic murmur at LLSE & quiet pulmonary second
sound (P2)
• Large VSDs  same size or bigger than the aortic valve
o Symptoms  heart failure with breathlessness and failure to thrive after 1 week  recurrent chest
infections
o Signs
▪ Tachypnoea, tachycardia and hepatomegaly (heart failure)
▪ Active precordium (heave)
▪ Soft pansystolic murmur or no murmur  implies larger defect
▪ Apical mid-diastolic murmur  from increased flow across mitral valve
▪ Loud pulmonary 2nd sound (P2)  from raised pulmonary arterial pressure
PERSISTENT DUCTUS ARTERIOSUS

• The ductus arteriosus connects the pulmonary artery to the descending aorta  it normally closes shortly
after birth, but in PDA it still hasn’t closed by 1 month old
• The flow of blood across a PDA is from the aorta to the pulmonary artery (L-to-R) following the fall in
pulmonary vascular resistance after birth
• Clinical features
o Most present with a continuous murmur beneath the clavicle as the pressure in the pulmonary artery
is lower than the aorta throughout the cardiac cycle
o Pulse pressure is increased causing a collapsing or bounding pulse
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o Symptoms are unusual, but when the duct is large there will be increased pulmonary blood flow with
heart failure and pulmonary hypertension
Describe the anatomy and murmur characteristics of Atrioventricular Septal Deffect (AVSD)
• AVSD involves the mixing of blood  so often presents as blue and breathless
• Complete AVSD  these is a large defect often found in the middle of the atrial septum down to the middle
of the ventricular septum
• There is not a separate mitral and tricuspid valve, but there is a common atrioventricular valve of 5 leaflet
guarding the atrioventricular junction  as there is a large defect there is pulmonary hypertension
o Presentation on antenatal ultrasound screening
o Cyanosis at birth or heart failure at 2-3 weeks of life
o No murmur heard
o The lesion can be detected on routine echo screening in a newborn baby with Down’s syndrome
• Management  treat heart failure medically  surgical repair at 3-6 months of age
Be aware of the association of Trisomy 21 with AVSD

• Complete AVSD is often found in conjunction with Down syndrome
Outline the presenting features clinically, on ECG and CXR of AVSD

• Most patients with Down’s syndrome are screened for congenital heart disease with an echo
• ECG shows a superior axis
Outline from fetal circulation to later presenting features and the management of Patent Ductus Arteriosus (PDA)
• PDA results in a low diastolic pressure, due to
blood flowing back into the pulmonary artery
• There may be heart failure presenting as
breathlessness
List the key presenting features clinically, on ECG, CXR

and echo of VSD/ASD.
• CXR may show cardiomegaly, enlarged
pulmonary arteries and increased pulmonary
vascular markings
• ECG
o Secundum ASD  partial RBBB with
right axis deviation due to RVH
o pAVSD  ‘superior’ QRS axis (-ve aVF)
 occurs because there is a defect
close to AVN, so the displaced node
conducts to the ventricles superiorly

• CXR  cardiomegaly, enlarged pulmonary arteries, increased pulmonary vascular markings and pulmonary
oedema
• ECG  biventricular hypertrophy by 2 months old
• Echo  demonstrates anatomy of the defect
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PATENT DUCTUS ARTERIOSUS
• CXR and ECG  usually normal, but if the PDA is large and symptomatic it may present similarly to a large VSD
• Echo  duct is readily identifiable
Outline the basic medical and surgical management of VSD/ASD

• Significant ASDs (causes RV dilation) will require treatment  undertaken about 3-5yrs old in order to prevent
right heart failure and arrhythmias later in life
o Secundum ASD  cardiac catherisation with insertion of an occlusion device
o pAVSD  surgical correction

• Small VSD  these lesions will close spontaneously and is investigated via the disappearance of the murmur
 prevention of bacterial endocarditis is also vital using good dental hygiene
• Large VSD
o Manage heart failure  diuretics & captopril
o Additional calorie input
o Surgery  3-6months old

• Closure is recommended to remove long term risk of bacterial endocarditis and pulmonary disease
• At 1 year of age  cardiac catheter introduces a coil or occlusion device
• Occasionally, surgical ligation is required
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COARCTATION OF THE AORTA

Presenting features and diagnosis
• Due to arterial duct tissue encircling the aorta at the point of insertion of the duct  when the duct closes
the aortic also constricts causing severe obstruction to left ventricular outflow
• Most often, this occurs in the neonatal period and the infants present at 48hrs when the duct closes
• In older children, BP is elevated in blood vessels proximal to the obstruction and an extensive collateral
circulation develops
• CoA is more common in boys than girls (2:1)  also common in Turner’s syndrome
o 1st day examination is normal
o Sick baby, with severe heart failure
o Absent femoral pulses
o Severe metabolic acidosis
• Cardiomegaly from heart failure and shock may be seen on CXR, but ECG will be normal
Be aware of the association with bicuspid AV and common syndromes

• A bicuspid aortic valve  congenital condition causes two cusps of the aortic valve instead of the normal
three  most common congential valve deformity and occurs in 1-2% of the population
• Often do not cause any problems, but may become calcified later in life leading to varying degrees of stenosis
and murmur  can eventually lead to aortic regurgitation
• Syndromes associated with BAV include
o Turner’s (XO) syndrome  only occurs in females and is the result of only one X chromosome in each
cell
o Marfan’s syndrome  genetic disorder of connective tissue
o Ventricular Septal Defect
o Patent ductus arteriosus
o Coarctation of the aorta
Be aware of the surgical management

• As for all children with an obstructed left outflow tract  surgical repair is performed soon after diagnosis
• Prostaglandins and drugs may be used to manage the heart failure
• Angioplasty +/- stenting may be used to correct the area  sometime open surgery is needed and
techniques include resection & anastomoses, a bypass graft or a more tailored reconstructive approach
• Balloon angioplasty only buys time
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DUCT DEPENDENT LESIONS

List the common types e.g. Coarctation/TGA/HLHS/PA/TA
• Coarctation  Coarctation of the aorta
• TGA  Transposition of the Great Vessels
• HLHS  Hypoplastic left heart syndrome
• PA  Pulmonary atresia
• TA  Tricuspid atresia
PULMONARY ATRESIA
• Pulmonary atresia  where the pulmonary valve fails to develop and completely blocks the outflow of blood
from the heart to the lungs
• In utero this does not cause a problem, but when born the only thing providing oxygen to the lungs is the
ductus arteriosus
• The baby will usually turn blue rapidly  should lead to a quick diagnosis
TRICUSPID ATRESIA
• The tricuspid valve is absent or abnormally developed and hence blood flow is blocked from passing from the
right atrium to the right ventricle
• In tricuspid atresia on the left ventricule is effective  the right is small and non-functional
• There is ‘common mixing’ of systemic and pulmonary venous return in the left atrium
• A child with this condition must have an ASD or VSD to survive  a PSA usually also persists to allow greater
pulmonary flow
• Presentation  with cyanosis in the newborn period if duct dependent or the child may be well at birth and
become cyanosed or breathless later
Outline the immediate management when the duct is closing

• The immediate management is to restore the duct via a prostaglandin (E) infusion  this is a short term
solution and formaldehyde should be infiltrated into the structure for the longer term
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SUPRAVENTRICULAR TACHYCARDIA (SVT)

Be aware of the aetiology
• This is the most common childhood arrhythmia  re-entry within the AV node is the most common cause of
SVT
Describe the presenting features both clinically and on ECG

• The heart rate is rapid (250 to 300 beats/min)  causes poor cardiac output and pulmonary oedema
• Typically presents with symptoms of heart failure in the neonate and young infant  causes hydrops fetalis
and intrauterine death
• The term re-entry tachycardia is used because a circuit of conduction is set up, with premature activation of
the atrium via an accessory pathway
• There is rarely a structural heart problem  but an echo should be performed
• Seen on ECG
o Generally show a narrow complex tachycardia
o May be possible to discern P wave after QRS complex due to retrograde activation of the atrium
o If heart failure is severe  there may be changes suggestive of myocardial ischaemia  T wave
inversion in the lateral leads
o In sinus rhythm  short P-R interval may be discernivle
o Wolff-Parkinson-White (WPW)  the early antegrade activation of the ventricle via the pathway
results in a short P-R interval and a delta wave
Describe management options both pharmacological and nonpharmacological

• In severely ill children, prompt restoration of sinus rhythm is the key to improvement  this achieved by
o Circulatory and respiratory support  tissue acidosis is corrected, positive pressure ventilation if
required
o Vagal stimulation manoeuvres  eg. carotid sinus massage or cold ice pack to face (80% successful)
o IV Adenosine (gold standard)  safe and effective, inducing atrioventricular block after rapid bolus
injection  terminates the tachycardia by breaking the re-entry circuit that is set up between the
AVN and accessory pathway  given incrementally in increasing doses
o Electrical cardioversion with a synchronized DC shock if adenosine fails
• Once sinus rhythm is restored, maintenance therapy is required  flecainide or sotalol
• Digoxin can be used on its own when there is no overt pre-excitation wave (delta wave)  propanolol can be
added in the presence of pre-excitation
• Resting ECG may remain abnormal, but 90% of children will have no further attacks in infancy  treatment is
therefore stopped at 1yr old
• Those who relapse or are at risk are usually treated with percutaneous radiofrequency ablation or
cryoablation of the accessory pathway
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RIGHT TO LEFT SHUNTS

List the key features that make Tetralogy of Fallot (TOF).
• Four cardinal anatomical features
o VSD  large
o Overriding of the aorta  with respect to the ventricular septum
o Subpulmonary stenosis  causing right ventricular outflow tract obstruction
o Right ventricular hypertrophy  as a result of pulmonary stenosis
• Most are diagnosed antenatally or following identification of a murmur <2 months old
• Classical description  severe cyanosis with hypercyanotic spells  it is important to recognise the latter as it
can lead to myocardial infarction, cerebrovascular accidents and even death if left untreated
• Characterised by
o Rapid increase in cyanosis
o Irritability or inconsolable crying
o Severe hypoxia and breathlessness
o Pallor  due to tissue acidosis
o Loud harsh ejection systolic murmur on LSE
Early and late management of TOF including; (BT shunt vs complete correction)
• Initial management in early neonatal period  prostaglandin E infusion and surgery to fit a shunt (subclavian
artery to pulmonary artery) in order to maintain pulmonary blood flow and oxygenation
• Definitive surgery is needed to repair the underlying heart defects carried out >4 months old  closure of
VSD, relieving of right ventricular outflow tract obstruction – sometimes includes an artificial patch which
extends across the pulmonary valve
• Hypercyanotic spells  usually self-limiting and followed by a period of sleep  if >15 minutes then require
immediate treatment
o Sedation and pain relief  morphine
o IV propranolol  peripheral vasoconstrictor and relieves subpulmonary muscular obstruction
o IV volume administration
o Bicarbonate  correct acidosis
o Muscle paralysis and artificial ventilation  reduces metabolic demand
Understand the parallel circulation and duct dependence in transposition of the great arteries
• Aorta is connected to the right ventricle and pulmonary artery is
connected to the left ventricle  blue blood is returned to the body and
pink blood is returned to the lungs  two parallel circulations
• Unless there is a mixing of blood between these two circuits, then this
condition is incompatible with life
• There are a number of naturally occurring associated anomalies, as well
as therapeutic interventions that can achieve mixing in the short term 
VSD, ASD and PDA
• Presentation is usually on day 2 of life when ductus arteriosus begins to
close leading to marked reduction in the mixing of desaturated and
saturated blood  causing cyanosis
Recognise the urgent need for atrial septostomy and later arterial switch in transposition of the great arteries
• Initial management is to maintain the patency of the ductus arteriosus with a prostaglandin infusion
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• Balloon atrial septostomy  may need to be performed in 20% of those with TGA  catheter with an
inflatable balloon tip is passed through umbilical/femoral vein and into RA and foramen ovale  the balloon
is inflated in LA and pulled back through the atrial septum, tearing it and rendering the flap valve of the FO
incompetent  this allows the mixing of systemic and pulmonary venous blood within the atrium
• All patients with TGA will require surgery for arterial switching in the neonatal period  performed in the first
few days of life  arteries are transected above the arterial valves and switched over, along with the
transferring of the coronary arteries to the new aorta
• Eisenmenger syndrome  if high pulmonary blood flow due to large L-to-R shunt is not treated at an early
stage then the pulmonary arteries become thick walled and resistant to flow increases  the children that
survive become less symptomatic as the shunt decreased, until at 10-15 years the shunt reverses and the
teenager becomes blue  the situation is progressive and the adult will due in right heart failure in 4th or 5th
decade of life
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CARDIAC DISEASE & ASSOCIATION WITH OTHER SYNDROMES

List syndrome associations with cardiac disease e.g. Turners, Noonans, Marfans syndrome
• Turner’s syndrome  discussed in the coarctation of the aorta
• Marfan’s syndrome  hereditary condition affecting the connective tissue  can affect blood vessels (heart),
skeleton (long, thin limbs) and eyes (discoloured lens)
o Skeleton  tall, slim, long thin arms & legs, lose & flexible joints, small bottom jaw, high arched
palate, deep-set eyes, flat feet, sternum protrudes and crowded teeth
o Scoliosis, spondylolisthesis and dural ectasia can all occur
o Eyes  short sighted, glaucoma, cataracts and detached retina
o Cardiovascular  walls of the aorta are weakened increasing risk of aneurysm and mitral/tricuspid
valves can prolapse causing regurgitation
• Noonan’s syndrome  genetic syndrome with a wide range of potential symptoms
o Common feature  short stature, distinctive and unusual facial features and congenital heart
disease  severity can range from mild to life threatenting
o Unusual features  broad forehead, wider distance between eyes, drooped eyelids, low set ears
rotated backward, small jaw, short neck with excess skin folds and lower than normal hairline in the
occipital region
o Pulmonary stenosis  affects ½ of people with Noonan’s
o Hypertropic cardiomyopathy  affects 10-20% of childrend
o Septal defects  ASD or VSD
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DUCT DEPENDENCY LESIONS

Basic understanding of how hypoplastic left heart presents and is managed
• Hypoplastic left heart syndrome (HLHS) is term used to describe a group of disorders associated with
underdevelopment of the left side heart structure  LV is small and non-functional, while RV maintains both
pulmonary and systemic circulations  the latter is achieved by pulmonary venous blood passing through an
ASD or patent foramen ovale, or via retrograde flow through a PDA
• Physiology
o Mitral valve  small or atretic
o Left ventricle  diminutive
o Aortic valve  atresia
o Ascending aorta  very small and associated with coarctation of the aorta
• HLHS can be detected antenatally via USS  allows for effective counselling and prevents baby from
becoming sick after birth
• HLHS presents with early onset (days) of cyanosis and heart failure leading to collapse and death within a few
days of life  most infants appear sick (blue) with poor peripheral perfusion and weak peripheral pulses 
central cyanosis and evidence of heart failure will be present
• Management  maintaining patency of the ductus is necessary to support systemic blood flow  followed
by a difficult set of neonatal surgical procedures (below)  or a heart transplant
o Norwood procedure
o Glenn or hemi-Fontan  at 6 months
o Fontan  at 3 years
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MYOCARDITIS
Be aware of the causes and presenting features
• Myocarditis (inflammatory cardiomyopathy) is inflammation of the myocardium (heart muscle)
• May be due to:
o Infections  normally viral – coxsackie B or EBV
o Kawasaki disease
o Drugs  Adriamycin
o Connective tissue disease  SLE, RA, rheumatic fever or sarcoidosis
• Clinical features are variable and depend on the age of the patient and time course of underlying disease 
specific cardiovascular symptoms include progressive worsening of dyspnea and congestive cardiac failure 
additionally, sudden onset of ventricular arrhythmias may occur
• Examination will show
o Weak pulses
o Tachycardia
o Gallop heart rhythm
o Distant heart sounds
• Definitive diagnosis is made using histology from a percutaneous endomyocardial biopsy  other options
o Echo  poor ventricular function
o CXR  cardiomegaly
o ECG  reduced QRS complex size
• Management is by treating the underlying cause and controlling the symptoms of congestive heart failure 
arrhythmias should also be treated
• Cardiac transplant may be needed in patients with refractory heart failure
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SUBACUTE BACTERIAL ENDOCARDITIS

Be aware of the risk factors, causes and management
• There are both acute and subacute forms of infection of the endocardium
• All children of any age with a congenital heart disease are at risk of infective endocarditis, but highest risk
• are those with turbulent blood flow through the heart or where prosthetic material has been inserted
following surgery
o PDA or VSD
o Previous rheumatic fever
• The most common pathogens are:
o -haemolytic Streptococcus viridans (50%)  often related to dental procedures
o Staphylococcus aureus  related to central venous catheters
o Group D streptococcus (enterococcus)  often after lower GI surgery
CLINICAL FEATURES
• In the early stages symptoms are mild  prolonged fever persisting over several months
• Non-specific symptoms  myalgia, arthralgia, headache, weight loss, night sweats
• Splinter haemorrhages in nail bed
• Osler’s nodes  tender nodules on fingers or toes
• Janeway lesions  erythematous palms or soles of feet
• Roth’s spots  retinal infarcts
• Anaemia or pallor
• Haematuria (microscopic)
• Clubbing (late)
• Necrotic skin lesions
DIAGNOSIS
• Diagnosis is made when there is a high index of suspicion
• Blood tests  FBC (raised WCC), ESR, CRP and repeated blood culture
• Echo  look for vegetation of the valves made of fibrin & platelets and contain the infecting organism
MANAGEMENT
• Antibiotic therapy  immediate high dose IV penicillin/vancomycin for >6 weeks  delay may cause
progressive endocardial damage and deterioration in cardiac function
• Bed rest is recommended and heart failure should be treated
• Surgery  only need to remove infected prosthetic material
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Gastroenterology CP2 Learning Objectives Child Health
GASTROENTEROLOGY
NUTRITION
To be aware of current NICE guidelines on infant feeding
• The Department of Health and WHO recommend that breast feeding should be done exclusively for the first 6
months of life
• NICE guidelines recommend that the first feed should ideally be given within the 1st hour after birth along
with baby to mother skin to skin contact  also recommend that skilled professionals should be available to
support breast feeding and give appropriate counselling
• Currently 78% of mothers breast feed their child from birth, but infants are often weaned onto solids before 6
months
• There are many advantages to breast feeding
o Ideal nutrition  life-saving in developing countries
o Reduces GI infection and necrotising enterocolitis (preterm)
o Enhances relationship
o Redues the risk of insulin dependent diabetes, hypertension and obesity later in life
o Reduction in breast cancer risk in the mother
• There are potential complications
o An unknown quantity is taken each time
o Transmission of some diseases
o Transmission of drugs and environmental contaminants
o Less flexible than formula feeding
o Nutrient inadequacies
o Risk of breast-milk jaundice
To be able to counsel parents on where to obtain advice / support with relation to breast feeding
• Within the first 24hrs a women should be given an information pack about breast feedings, what to do and
where to get help
• There should be skilled support offered from the first feed  healthcare professional, mother-mother or peer
support
• A woman’s experience of breast feeding should be discussed at each contact to establish if everything is going
well and if there are any concerns
• Help with be available in hospital from the maternity nurses and midwives  health visitors offer help and
support in the community  there are also community nurses available for assistance, especially in the 1st
few days
• If weaning takes place <6 months  then wheat, eggs and fish should be avoided, as should all food high in
salt, sugar or containing honey (risk of botulism)
To have a knowledge of specialist formulas and indications for their use ie: whole protein vs semi-hydrolysed vs
hydrolysed feed
• Breast feeding or formula feeding is recommended for 12 months, with weaning after 6 months 
parteurised cow’s milk may be given from 1yr, but it is deficient in vitamins A, C, D ad iron  hence
supplementation will be needed unless the infant is having a good diet of mixed solids
• Alternatively, follow-on formula can be used  children should receive full fat milk up to the age of 5
• A specialized formula may be used for cow’s milk protein allergy/intolerance, lactose intolerance, CF, neonatal
cholestatic liver disease or after intestinal resection
45
• In specialized formula  the protein in hydrolysed cow’s milk protein, amino acids or from soya  the
carbohydrate is glucose  the fat is a combination of medium & long chain triglycerides (medium can be
absorbed without bile or pancreatix enzymes)
HYDROLYSED FORMULA
• Hydrolysed formulae contains cow’s milk  but the proteins and lactose have been broken down, so are
easier to digest
• The formula can either be ‘partially’ or ‘extensively’ hydrolysed
• Partial hydrolysates  characterised by a larger proportion of long chains and are considered more palatable
than extensively hydrolysed formula  they are intended for prophylactic use with the aim of reducing the
risk of cow’s milk allergy in formula fed babies where there is a FHx of allergy  they are not suitable for
treatment of cow’s milk allergy/intolerance as there have been many reports of adverse reactions
FIRST MILKS
• These are milk for newborns and are based on the whey of cow’s milk  more easily digested than other
milks  contains lactose and long-chain triglycerides
• Unless otherwise told by doctor or health visitor, this is the best type of infant formula for newborns
• If bottle feeding  1st milk is the only food the baby needs for the first 6 months  after 6 months continue
to give 1st milk as well as introducing solid foods
• By 1yr old ordinary cow’s milk can be given
SECOND MILKS
• These are described as formula for ‘hungrier babies’  there is no evidence that babies settle better or sleep
longer if given these milks
• They are based on the curd of cow’s milk  so take longer to digest than 1st milks
• Not recommended for young babies
FOLLOW-ON MILKS
• Follow-on milks are describes as suitable for babies >6 months  these are not necessary for all babies
• Should never be used for babies <6 months as they are not nutritionally suitable
GOODNIGHT MILKS
• Goodnight milks are advertised as suitable for babies from 6 months – 3 years  they contain follow-on milk
and cereal
• Should never be given to babies <6 months as they are not nutritionally suitable  they are not necessary for
any baby and have no evidence to support the claim that they help babies settle
SOYA FORMULA
• Soya formula is made from soya  contains high levels of phytoestrogen, which may have negative effects on
babies
• Should not be used in <6 months due to the phytoestrogens and high aluminium content
• Should only be used in exceptional circumstances and only under the recommendation of a doctor
GOAT’S MILK-BASED INFANT FORMULA

• UK regulations were changed in 2014 to allow goats milk protein to be used in the manufacture of infant
formula
• Still unsuitable for babies with an allergy to cow’s milk as the proteins are very similar
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ORDINARY COW’S MILK
• Ordinary cow’s milk should not be given to any babies <1 years old  not nutritionally suitable until then as it
contains too much protein, electrolytes and inadequate iron & vitamins
To be able to take a history to determine a differential diagnosis in cases of failure to thrive/faltering growth
• Failure to thrive  sub-optimal weight gain in infants and toddlers  recognition depends entirely on
demonstration of inadequate weight gain when plotted on a centile chart
o Mild failure to thrive  a fall across two centile lines
o Severe failure to thrive  fall across three centile line
• Differentiating an infant who is failing to thrive from a normal, but small or thin infant is often a problem 
normal but short infants have no symptoms, are alert, responsive and happy and their development is
satisfactory  any intercurrent illness may be accompanied by a temporary failure to gain weight
• Failure to thrive is usually classified as:
o Organic  causes associated with illness or anatomy
o Non-organic  associated with a broad spectrum of psychosocial and environmental deprivation
• Causes of failure to thrive
o Inadequate intake
▪ Non-organic/environmental  inadequate availability of food, psychosocial deprivation,
neglect or child abuse
▪ Organic  impaired suck/swallow or chronic illness leading to anorexia
o Inadequate retention  vomiting, severe GOR
o Malabsorption  Coeliac disease, CF, cow’s milk protein intolerance, short gut syndrome
o Failure to utilize nutrients  syndromes, congenital infection, metabolic disorders
o Increased requirements  thyrotoxicosis, CF, malignancy, chronic infection (HIV), congenital heart
disease
Understand what is meant by the term nutrition

• Nutrition  is the intake of food considered in relation to the body’s dietary needs
• Good nutrition  an adequate, well balanced diet combined with regular physical activity  cornerstone of
good health
• Poor nutrition  can lead to reduced immunity, increased susceptibility to disease, impaired physical and
mental development and reduced productivity
• Notable features of nutrition in children are:
o The optimal nutrition for newborn infants is from breast feeding
o Inadequate nutrition in infants and young children rapidly leads to weight loss followed by growth
failure  commonly called failure to thrive  if severe and prolonger it can lead to malnutrition
o Whereas malnutrition is a major cause of morbidity and death in developing countries  obesity is
the major nutritional problem in developed countries
Understand importance of nutrition scoring (MUST tool and paediatric equivalents)

• Malnutrition Universal Screening Tool (MUST)  is a 5-step screening tool to identify adults, who are
malnourished, at risk of malnutrition (undernutrition) or obese  it also includes management guidelines
which can be used to develop a car plan  it is for use in hospitals, community and other care settings and
can be used by all care workers
• The 5 MUST Steps
o Step 1  Measure height and weight to get a BMI score
o Step 2  Note percentage unplanned weight loss and score using tables provided
o Step 3  Establish acute disease effect and score
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o Step 4  Add scores from steps 1, 2 & 3 together to obtain overall risk of malnutrition
o Step 5  Use management guidelines and/or local policy to develop care plan
• Paediatric Yorkhill Malnutrition Score (PYMS)  the paediatric equivalent of MUST  created in Glasgow in
2008 in response to national standards set that identified the importance of screening for malnutrition 
means of identifying children who are at risk of malnutrition in order to aid dietetic referral  designed to
detect energy/protein undernutrition in patients >1yrs old
• The 5 PYMS Steps
o Step 1  Measure height and weight to get a BMI score
o Step 2  Note percentage unplanned weight loss and score using tables provided
o Step 3  Assess recent change in diet/nutritional support including reduced intake
o Step 4  Note risk of being undernourished during hospital admission due to decreased intake,
increased gut loss or increased energy requirement
o Step 5  Use management guidelines and/or local policy to develop care plan
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Understand the concept and presenting features of protein / energy malnutrition (kwashiorkor)
• Severe protein-energy malnutrition in children usually leads to marasmus  with a weight for height more
than -3 SD below the median, corresponding to <70% weight for height and a wasted wizened appearance
• Marasmus  oedema is not present  skinfold thickness and mid-arm circumference are markedly reduced,
and affected children are often withdrawn and apathetic
• Kwashiorkor  is another manifestation of severe protein malnutrition  there is generalised oedema, as
well as severe wasting  due to the oedema the weight may not be severely reduced
o A ‘flaky-paint’ skin rash with hyperkeratosis (thickened skin) and desquamation
o A distended abdomen and enlarged liver  usually due to fatty infiltration
o Angular stomatitis
o Hair which is sparse and depigmented
o Diarrhoea, hypothermia, bradycardia and hypotension
o Low plasma albumin, potassium, glucose and magnesium
• It is unclear why some children with protein-energy malnutrition develop Kwashiorkor ad other develop
Marasmus
• Kwashiorkor is a feature of children reared in traditional, polygamous societies, where infant are not weaned
from the breast until 12 months and the subsequent diet tends to be high in starch
• Kwashiorkor often develops after an acute intercurrent infection  measles or gastroenteritis
• Acute management
o Hypoglycaemia  common and can lead to coma
o Hypothermia  wrap, especially at night
o Dehydration  avoid being overzealous with IV fluids as may lead to heart failure
o Electrolytes  especially potassium
o Infection  give antibiotics, fever and other signs may be absent
o Micronutrients  give vitamin A & other vitamins
o Initiate feeding  small volumes frequently, including through the night
Know recommended intake for infants 0-3months, 3-6 months and 6-12 months
• Breastfeeding is the optimal method of infant feeding  exclusive breastfeeding is recommended for the first
6 months
• By 6 months, breast or formula milk alone will no longer be sufficient to meet nutritional needs and the
process of weaning onto solid foods should being  the timing of introduction of solids should take into
consideration the individual baby’s development
• Fruit, vegetables and non-wheat cereals are suitable first weaning food  the amount and variety of food
should gradually be increased to include other types of cereal, dairy, meat, fish, eggs and pulse
• From 6 months  infants receiving breast milk as their main drink should be given a supplement providing
vitamins A, C & D
• Signs a baby is ready for weaning
o Starts to show an interest in food
o Is able to sit up  although may still need some support
o Wants to chew and put objects in mouth
o Able to reach and grave accurately
o Still seems hungry after a milk feed
• Weaning should begin with puried foods, which may be mixed with a little of the usual milk  a few
teaspoons should be offered one a day, when the baby is not overly hungry or tired  the amount and
frequency can be gradually increased from once a day to twice and finally three feeds a day
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• During initial stages of weaning, babies are still getting most of their nutritional requirements from milk  at
least 500-600ml formula per day
• 7-9 months  after the initial stages of weaning, a wider variety of foods, textures and tastes should be
introduces  >6 months diary, wheat and a range of proteins can be introduced
• 9-12 months  should now be having 3 meals a day, in addition to healthy snacks  food should be chopped,
mashed or minced and include all food groups
• Foods to be avoided during weaning
o Salt
o Sugar
o Honey
o Shark, Marlin & Swordfish
o Raw eggs
o Whole nuts
• Drinks  breast milk or formula should be given as the main drink up to 12 months (500-600ml/day) 
whole cow’s milk is not suitable <12 months  water is good alternative to milk and fruit juices can be given
>6 months
• DoH recommends that breastfed infants should be given supplements of vitamin A, C & D from 6 months 
not needed if fed on formula milk
Recognise symptoms and signs of overfeeding

• Signs of overfeeding
o Baby gains average or greater than average weight
o Eight or more heavily wet nappies per day
o Frequent sloppy, foul-smelling bowel motions
o Extreme flatulence
o Large belching
o Milk regurgitation
o Irritability
o Sleep disturbances
• Symptoms associated with overfeeding are commonly mistaken as colic, reflux, milk protein intolerance or
lactose intolerance  difference is that the baby still displays healthy growth
• Causes of overeating
o Sleep deprivation
o Misinterpreting baby’s desire to suck as hunger
o An active sucking reflex
o Feeding too quickly
o Feeding sleep association
o Overlooking or ignoring satiety cues
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CONSTIPATION
To be able to take a history to differentiate simple constipation from motility disorders such as Hirschprung’s disease
• Constipation is very common in children  defined as the infrequent passing of dry, hardened faeces often
accompanied by straining or pain
• Normal frequency in an infant is x4/day  x2/day at 1yr old  by 4yrs old the child will have an adult pattern
• The main concerns are Hirschprung’s, hypothyroidism, hypercalcaemia and anorectal abnormailities  but
may just be due to dehydration, reduced fluid intake or an anal fissure causing pain  in older children it may
relate to problems with toilet training, unpleasant toliets or stress
• Examination  may reveal palpable abdominal mass in an otherwise well child  DR should be only done by
a paediatric specialist and with justified reason
• Constipation arising acutely in a young child (after febrile illness) will usually resolve spontaneous or with mild
laxative and extra fluid  in longer standing constipation the rectum can become over distended and there is
a loss of the feeling to defecate leading to involuntary soiling
• Red flag symptoms
o Failure to pass meconium with 24hrs  Hirschprung’s disease
o Failure to thrive/growth failure  hypothyroidism, coeliac disease, other causes
o Gross abdominal distension  Hirschprung’s disease or other GI dysmolitiy
o Abnormal lower limb neurology or deformitiy  Lumbosacral pathology
o Sacral dimple above natal cleft over spin  Spina bifida occulta
o Abnormal appearance/position/patency of anus  abnormal anorectal anatomy
o Perianal bruising or multiple fissures  sexual abuse
o Perianal fistulae, abscesses or fissures  Perianal Crohn disease
• Simple constipation can be differentiated from motility disorders by period of onset, age, how often it is
occurring, lack of reasonable explanation  motility disorders are generally chronic and some will be seen
To understand the management of simple constipation / stool withholding
Be aware of features of history that differentiate soiling due to constipation and overflow and functional encopresis
• Encopresis  medical term for a toilet trained child (>4yrs) soiling their clothes  can be classified by DSM as
with constipation and overflow or without
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• Functional encopresis  a rare form and is thought to be more psychological in nature  includes never
being toilet trained, toilet phobia, manipulative soiling or IBS
• In 90% of cases, the cause of encopresis is not found  defined as child >4yrs, who are toilet trained, passing
stools in their underwear  these cases are due to functional constipation that has no known causes
• Constipation can result from anything, but starts a vicious cycle, when the stools are retained by the child to
prevent pain, but in the colon they lose more water so will be even more painful  this cycle leads to the
distension of the colon and loss of sensation to defecate, but also distends the rectal sphincter so stools can
be forced out if there is overloading
• Around the faeces may also be soft stools due to overflow encopresis  where the colon is completely full, so
stools force their way out
Be aware of sources of support for children and families with soiling and encopresis
• Depending on the cause the GP will usually by the first person to see  a large proportion of these children
will end up seeing paediatric gastroenterologist
• There is also psychological and parental help in training the child and parent to reward good behaviours
• There is also a wide variety of online information and even encopresis support groups for parents
Understand aetiology, presenting features and management options of Hirschprung’s disease

• Hirschprung’s disease is the absence of ganglion cells from the myenteric and submucosal plexuses in the
large bowel and results in narrow and contracted segments  the abnormal bowel extends from the rectum
for a variable distance proximally and ends in a normally innervated, dilated colon
• It is causes by a failure of ganglion cells to migrate into the hindgut  leads to an absence of coordinated
bowel peristalsis and functional bowel obstruction at the junction between normal bowel and distal
aganglionic bowel
• 75% of cases only affect the rectosigmoid  but 10% affect the entire colon
• Presentation  normally in the neonatal period with intestinal obstruction heralded by failure to pass
meconium  abdominal distention and bile-stained vomiting develops later
• Rectal examination  may reveal a narrowed segment and withdrawal of examining finger may release a
gush of liquid stool and flatus
• Infants may present with severe, life-threatening Hirschsprung enterocolitis during 1st few weeks of life 
due to C.difficile infection
• In later childhood, presentation may be chronic constipation, associated with abdominal distension, but
usually without soiling  growth failure may also be present
• Diagnosis
o AXR  distal intestinal obstruction
o Rectal biopsy  no ganglion cells in the submucosa
• Surgical management  many surgeons will now perform a single stage pull-through in the neonatal period
 managing initial intestinal obstruction with rectal washouts
• 3 stage procedure is still used
o Defunctioning colostomy, with multiple biopsies to confirm the site of the transition zone
o Pull-through procedure to bring ganglionic bowel down to the anus
o Closure of colostomy
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Be aware of serious / life threatening complications (enterocolitis) and presenting features of Hirschprung’s disease
• Most important complication of HSD is enterocolitis  a dramatic gastroenteritic illness characterised by
abdominal distension, bloody watery diarrhoea, circulatory collapse and septicaemia mortality is 10%
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GASTROENTERITIS
To be aware of current NICE guidelines on management of gastroenteritis including clinical examination relating to
assessment of hydration
• Gastroenteritis  inflammation of the stomach and intestines, typically resulting from bacterial toxins or viral
infection  causing vomiting and diarrhoea
• In the UK, around 10% of <5yr olds annually present with gastroenteritis  most common cause in developed
countries is rotavirus (60% of cases)
• Suspect if there is a sudden change in loose watery stools or onset of vomiting  consider recent contact
with someone with acute D&V and exposure to a known source of enteric infection or recent travel abroad
• Diagnostic indications
o Temperature  >38oC (<3 months) or o Non-blanching rash
>39oC (>3 months) o Blood and/or mucus in stool
o Shortness of breath o Bilious vomit
o Tachypnoea o Severe abdominal pain
o Altered state of consciousness o Abdominal distension/rebound
o Neck stiffness tenderness
o Bulging fontanelle
• A stool sample should be taken if septicaemia is suspected or there is blood/mucus in stool or child is
immunosuppressed  consider MC&S if there has been recent travel abroad, not improved in 7 days or if
diagnosis is uncertain
• Management  main management is rehydration therapy  NICE guidelines can be seen below
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Understand suggestive features in history and recommended management infant with cow’s milk protein intolerance
• Cow’s milk protein allergy is the commonest food allergy in infancy
• Symptoms depend on where the allergic inflammation is
o Upper GI  vomiting, feeding adversion, pain
o Small intestine  diarrhoea, abdominal pain, protein-losing enteropathy, FTT
o Large intestine  diarrhoea, acute colitis with blood and mucus in stools and rarely chronic
constipation
• May occur in breastfed infants  reaction is to cow’s milk protein secreted in breast milk following maternal
ingestion  usually presents as allergic colitis in an otherwise happy healthy infant
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• First treatment is to limit cow’s milk & soy protein intake  hydrolysed formula or maternal exclusion  if
symptoms are severe or unresponsive to hydrolysed milk, then elemental formula may be required
• Avoid using goat or sheep’s milk as a substitute as 25% will also develop an allergy to these due to cross-
reactivity  similar cross-reactivity occurs with soy milk and is not recommended <6 months anyway
• After weaning introduce a cow’s milk protein free diet  supplement oral calcium if required
• Consider cow’s milk protein challenge after 6-12 months
Understand the age range and clinical features of toddler diarrhoea

• Toddler diarrhoea  also called chronic non-specific diarrhoea  commonest cause of persistent loose stools
in preschool children
• Characteristically the stools are varying in consistency, sometimes well-formed and sometimes explosive and
loose  presence of undigested vegetables in stool is common  often pale and foul smelling stools
• Affected children are often well and thriving  there are no precipitating dietary factors
• Toddler diarrhoea is probably the result of an underlying maturational delay in intestinal motility which leads
to intestinal hurry  loose stools are not due to malabsorption
• Most children have grown out of their symptoms by 5yrs old, but achieving faecal continence may be
significantly delayed
• Some relief of symptoms can be achieved by ensuring the diet contains adequate fat and fibre  excessive
consumption of fresh fruit juice can exacerbate symptoms  it is also important to maintain the child’s
hydration during these episodes
Offer reassurance from more serious forms of diarrhoea

• Serious forms of diarrhoea
o Coeliac disease
o Gastroenteritis
o Lactose intolerance
o Post-operative bowel surgery
o Malabsorption
• All these conditions have sympotms associated with them and the child is usually noticeably unwell or FTT 
with toddler’s diarrhoea there is intermittent bouts that have no associations in particular
• Investigations are usually not needed as this is extremely common
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GASTRO-OESOPHAGEAL REFLUX
Understand concept of gastro-oesophageal reflux and the pathophysiology
• Gastro-oesophageal reflux  occurs when there is an inappropriate effortless passage of gastric content into
the oesophagus  GORD exists when reflux is repeated and severe enough to cause harm
• Reflux is very common in infancy and is associated with slow gastric empyting, liquid diet, horizontal posture
and low resting lower oesophageal sphincter pressure
• Other causes in infancy and older children
o LOS dysfunction  hiatus hernia o Gastric hypersecretion  acid
o Increased gastric pressure  delayed o Food allergy
gastric empyting o CNS disorders  cerebral palys
o External gastric pressure
System Presentation
Gastrointestinal Regurgitation
Non-specific irritability
Rumination
Oesophagitis  heartburn, difficulty feeding, painful swallowing, haematemesis
Faltering growth  calorie deficiency
Respiratory Apnoea
Hoarseness
Cough
Stridor
Lower respiratory disease  aspiration pneumonia, asthma, BPD
Neurobehavioural Sandifer’s syndrome  bizarre extension & lateral head turning, dystonic postures
Outline non-medical, medical and surgical management strategies

• Treatment is carried out in a stepwise fashion
o Positioning  nurse infants on head-up slope of 30o ± prone
o Dietary
▪ Thickened milk feeds  infants
▪ Small frequent meals
▪ Avoid food before sleep
▪ Avoid fatty food, citrus juices, caffeine, carbonated drinks, alcohol & smoking
o Drugs
▪ Gastric acid reducing drugs  Ranitidine or Omeprazole
▪ Gaviscon  antacids & alginate
▪ Prokinetic drugs  Domperidone
▪ Mucosal protectors  Sucralfate, Corticosteroids
o Surgery  usually Nissen’s fundoplication is performed when medical treatment has failed
• Indications for surgery
o Failed intense medical treatment o Recurrent apnoea
o Oesophageal stricture o LRTI
o Barrett’s oesophagus o FTT
o Severe oesophagitis
o
• Complications of surgery include ‘gas bloating’ syndrome, dysphagia, profuse retching and ‘dumping’
syndrome
Understand rare complications (SIDS, aspiration, Barrett’s oesophagus)

• Oesophageal stricture  dysphagia
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• Barrett’s oesophagus  premalignant • Anaemia  chronic blood loss
intestinal metaplasia • Lower respiratory disease
• Faltering growth
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JAUNDICE
Understand aetiology and pathogenesis of conjugated and unconjugated jaundice
• Over 50% of all newborn infant become visibly jaundice  due to
o Marked physiological release of haemoglobin from the breakdown of RBC because of the high Hb
conc at birth
o RBC life span of newborn infants is markedly shorter than that of adults  70 days compared to 120
days
o Hepatic bilirubin metabolism is less efficient in the first few days of life
• Neonatal jaundice is important as it may be a sign of
another disorder  eg. haemolytic anaemia, infection,
metabolic disease or liver disease  additionally,
unconjugated bilirubin can be deposited in the brain
(basal ganglia) causing kernicterus
• Kernicterus  encephalopathy resulting from
deposition of unconjugated bilirubin in the basal ganglia
and brainstem nuclei  occurs when unconjugated
bilirubin levels exceed albumin-binding capacity 
neurotoxic effects vary in severity from transient
disturbance to severe damage and death  acute
manifestations are lethargy and poor feeding  in
severe cases there may be irritability, increased muscle
tone, seizures and coma  infants who survive may
develop choreoathetoid cerebral palsy , learning
difficulties and sensorineural deafness
CAUSES OF NEONATAL JAUNDICE

• <24hrs of age • >2 weeks of age
o Haemolytic disorders o Unconjugated
▪ Rhesus/ABO incompatibility ▪ Physiological or breastmilk
▪ G6PD deficiency jaundice
▪ Spherocytosis, pyruvate ▪ Infection  UTI
deficiency ▪ Hypothyroidism
o Congenital infection ▪ Haemolytic anaemia  G6PD
• 24hrs to 2 weeks of age deficiency
o Physiological jaundice ▪ High gastrointestinal
o Breast milk jaundice obstruction  pyloric stenosis
o Infection  UTI o Conjugated (>25mol/L)
o Haemolysis  G6PD deficiency, ABO ▪ Bile duct obstruction 
incompatibility Choledocal cysts
o Bruising ▪ Neonatal hepatitis 
o Polycythaemia Toxoplasmosis, rubella, CMV,
o Crigler-Najjar syndrome Hep B&C
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Be aware of RCPCH / NICE guideline for investigation and management of jaundice
• Poor milk intake and dehydration will exacerbate jaundice and should be corrected
• Phototherapy is the most widely used therapy  with exchange transfusion for severe cases
• Phototherapy  light (wavelength 450nm) from the blue-green band of the visible spectrum converts
unconjugated bilirubin into a harmless water-soluble pigment excreted predominantly in the uine  the
infants eyes are covered, but it has no long term sequelae  can cause temperature instability, macular rash
and bronze discolouration of the skin if bilirubin is conjugated  multiple treatments can be given is levels
are rising rapidly or have reached high levels
• Exchange transfusion  required in bilirubin levels are considered potentially dangerous  blood is removed
in small aliquots (arterial line or umbilical vein) and replaced with donor blood (peripheral or umbilical vein)
 twice the infants blood volume is exchanged (2x80ml/kg)  procedure does carry some risk of morbidity
or mortality
Understand the importance of stool colour in assessing a child with jaundice

• Stool colour is obtained from conjugated bilirubin  if stool is pale it is indicative of a reduced conjugated
bilirubin content
• This is most likely due to a biliary tree or post-hepatic obstruction and hence can help locate the problem
Be aware of biliary atresia and know the features within history examination and investigation findings that would point
you toward this diagnosis
• Biliary atresia occurs in 1 in 14,000 live births  it is a progressive disease due to destruction or absence of
the extrahepatic biliary tree and intrahepatic biliary ducts  leads to chronic liver failure and death unless
surgical intervention is performed
• Babies with biliary atresia have a normal birthweight, but have FTT as the disease progresses  usually mildly
jaundice with pale stool and dark urine  hepatomegaly and splenomegaly are often present
• Investigations
o Standard LFTs are of little value in the differentials
o A fasting USS may demonstrate a contracted or absent gallbladder  though it may be normal
o Radioisotope scan with TIBIDA shows good uptake in the liver, but no excretion into the bowel
o Liver biopsy  demonstrates features of extrahepatic biliary obstruction  may overlap with those
of neonatal hepatitis
o Laparotomy  operative cholangiography fails to outline normal biliary tree
• Treatment  surgical bypass of fibrotic ducts  hepatoportoenterostomy (Kasai procedure)
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Be aware of the aetiology and presenting features of viral hepatitis
• Clinical features 
o Nausea
o Vomiting
o Abdominal pain
o Lethargy
o Jaundice  30-50% will not develop
o Hepatomegaly
o Splenomegly  30%
o Raised LFTs  transaminases
• Hepatitis A  RNA virius spread by faecal-occult transmission
o Incidence has fallen due in to improve socioeconomic coniditons
o Disease may be asymptomatic  but majority have mild illness and recover within 2-4 weeks
o Some develop prolonged cholestatic hepatitis (self-limiting) or fulminant hepatitis, but not chronic
liver disease
o Diagnosis by detecting IgM antibody to the virus
o No treatment  close contacts should be given prophylaxis by vaccine
• Hepatitis B  DNA virus causing acute and chronic liver disease spread parentally (blood, etc)
o Infants can contract HBV perinatally  asymptomatic, but 90% become chronic carriers
o Older children may also be asymptomatic or have classical features of acute hepatitis
o Majority resolve spontaneous  1-2% develop fulminant hepatic failure  5-10% become chronic
carriers
o Diagnosis by detecting IgM antibody to virus (acute) or HBsAG (ongoing infection)
o Perinatal transmission from carrier mothers should be prevented by maternal screening and giving
the infant a course of hep B vaccine if indicated
o Infection may result in chronic HBV liver disease  may progress to cirrhosis and hepatocellular
carcinoma
• Hepatitis C  RNA virus spread parentally (blood)
o High prevalence amongst IVDU
o Children with haemoglobinopathies or haemophilia are at higher risk
o Vertical transmission occurs in 6%, but is twice as common if there is co-infection with HIV
o Rarely causes acute infection, but the majority become chronic carriers  with 20-50% lifetime risk of
progression to cirrhosis or HCC
o Treatment  combination of IFN and ribavirin  but not undertaken <4yrs old as may resolve
spontaneously
• Hepatitis D  defective RNA virus  depends on Hep B for replication  cirrhosis develops in 50-70% of
cases
• Hepatitis E  RNA virus spread enterally via contaminated water  epidemics occur in some developing
countries
• Non-A to G hepatitis  clinical presentation is similar to Hep A
• Epstein-Barr virus  children with EBV are usually asymptomatic  40% have hepatitis that may become
fulminant and <5% are jaundices
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MALABSORPTION
Be aware of NICE guideline for diagnosis and management of coeliac disease
OVERVIEW OF COELIAC DISEASE
• A gluten-sensitive enteropathy
• Classical presentation is at 8-24 months with abnormal stools, failure to thrive, abdominal distension, muscle
wasting & irritability
• Other modes of presentation  short stature, anaemia, screening – eg. children with DM
• Diagnosis  positive serology (IgA tTG and endomysial antibodies), flat mucosa on jejunal biopsy and
resolution of symptoms & catch-up growth upon gluten withdrawal
• Treatment  gluten-free diet for life
DIAGNOSING COELIAC DISEASE

• Children suffering from coeliac disease may present with
o Faltering growth
o Static weight
o Progressive weight loss
• Offer serological testing for coeliac disease to first-degree relatives of people with coeliac disease or people
with any of the following
o Persistent unexplained abdominal or gastrointestinal symptoms
o Faltering growth
o Prolonged fatigue
o Unexpected weight loss
o Severe or persistent mouth ulcers
o Unexplained iron, vitamin B12 or folate deficiency
o Type 1 diabetes, at diagnosis
o Autoimmune thyroid disease, at diagnosis
o Irritable bowel syndrome (only in adults)
• NB – do not offer serological testing in infants before gluten has been introduced into the diet
• When a healthcare professional requests serological tests to investigate suspected coeliac disease in children,
laboratories should
o Test for total IgA and IgA tTG, as the first choice
o Consider using IgG EMA, IgG DGP or IgG tTG if IgA is deficient
• Children with positive serological test results should be refered to a paediatric gastroenterologist or
paediatrician with a specialist interest in gastroenterology for further investigation for coeliac disease
• Diagnosis requires a positive serological result, as well as mucosal changes on small intestinal biopsy 
increased intraepithelial lymphocytes and a variable degree of villous atrophy and crypt hypertrophy  this
needs to be followed by resolution of symptoms and catch-up growth upon gluten withdrawal
MANAGING COELIAC DISEASE

• A healthcare professional with a specialist knowledge of coeliac disease should confirm the diagnosis  they
should be informed of the importance of a gluten-free diet  additional information
o Information of which types of food contain gluten & suitable alternatives, including gluten-free
substitutes
o Explanations of food labelling
o Information sources about gluten-free diets, recipe ideas and cookbooks
o How to manage social situations, eating out and travelling away from home, including travel abroad
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o Avoiding cross contamination in the home and minimizing the risk of accidental gluten intake when
eating out
o The role of national and local coeliac support groups
• All products containing wheat, rye and barley are removed from the diet and this results in resolution of
symptoms  this must be supervised by a dietician
• An annual review should be offered to children with coeliac disease  this should cover
o Measuring weight & height
o Review symptoms
o Consider the need for assessment of diet & adherence to gluten-free diet
o Consider the need for specialis dietetic & nutritional advice
• Be aware that people with coeliac disease may experience anxiety & depression
• A gluten challenge may be required later in childhood if initial biopsy or response to gluten withdrawal is
doubtful, or when the disease presents before the age of 2yrs
Understand how to take a history to elicit symptoms of and risk factors for food intolerances
• A food allergy occurs when a pathological immune response is mounted against a specific food proteins  it
is usually IgE-mediated, but may be non-IgE mediated.
• A non-immunological hypersensitivity reaction to a specific food is called food intolerance  eg. Cow’s milk
• Food allergy is usually primary, where children have failed to ever develop immune tolerance to the relevant
food  presentation varies with the agent and the child’s age
o In infants  the most common causes are milk, egg & peanut
o In older children  peanut, tree nut and fish & shellfish
• Food allergy can also be secondary, where children initially tolerate a food and then later become allergic to it
 secondary food allergy is usually due to cross-reactivity between proteins present in fresh
fruits/vegetables/nuts and those present in pollens  very common, but leads to mild allergic reaction, such
as itchy mouth, but no systemic symptoms
• Non-IgE food allergy typically occurs hours after ingestion and usually involves the GI tract
SYMPTOMS
• IgE-mediated food allergy  there is a history of allergic symptoms varying from urticarial to facial swelling to
anaphylaxis  usually occurring 10-15mins after ingestion of food and is often the 1st occasion the food is
knowingly ingested
• Non-IgE mediated food allergy  usually presents with diarrhea, vomiting, abdominal pain and sometimes
failure to thrive  colic or eczema may also be present, as well as blood in stool in the 1st few weeks of life
from proctitis
RISK FACTORS
• Family history  increased risk of food allergies if asthma, eczema, hives or allergies such as hay fever are
common in the family
• A past food allergy  children may outgrow a food allergy, but in some cases it returns later in life
• Other allergies  if already allergic to one food at increased risk of becoming allergic to another  likewise, if
have other types of allergic reactions, such as hay fever or eczema risk of having a food allergy is greater
• Age  food allergies are most common in children, especially toddlers and infants  as grow older digestive
system matures and the body is less likely to absorb food or food components that trigger allergies  fortunately,
children typically outgrow allergies to milk, soy, wheat and eggs  severe allergies and allergies to nuts and
shellfish are more likely to be lifelong
• Asthma  asthma and food allergy commonly occur together  when they do, both food allergy and asthma
symptoms are more likely to be severe
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Understand difference between type 1 and type 2 reactions and their management in food intolerance
• Type 1 hypersensitivity (IgE-mediated)  IgE binds to a high affinity receptor on mast cell  two Ab bind to
an allergen and cross-links  activates it and leads to release of histamine  rapid inflammatory response 
ACUTE
o Urticaria & itchy skin o Stridor
o Facial swelling o Abdominal pain & D/V
o Wheeze o Shock/collapse
• Type 2 hypersensitivity (non IgE-mediated)  neutrophils bind to innocuous substances  lytic enzymes get
released causing tissue damage  LONGER TERM
o Diarrhoea o Colic
o Abdominal pain o Failure to thrive
o Vomiting
MANAGEMENT
• Type 1  children and family must be able to manage an allergic attack  written self-management plans
and adequate training is essentials
o Mild reactions (no CVRS symptoms)  anti-histamines
o Severe reactions  adrenaline IV (Epipen)
• Type 2  avoidance of the relevant food  advice of paediatric dietician is essential to aid patients avoid
foods to which they are allergic and avoid nutritional deficiencies
Understand what is meant by the term malabsorption

• Malabsorption  defined as subnormal intestinal absorption of dietary constituents with excessive faecal
nutrient loss
• Prognosis depends on the cause
o Intraluminal digestive defect
▪ Carbohydrate intolerance
▪ Protein-energy malnutrition
▪ Cystic fibrosis
▪ Shwachman-Diamond syndrome
▪ Chronic pancreatitis
▪ Cholestasis
▪ Pernicious anaemia
▪ Specific digestive enzyme deficiency  lipase
o Mucosal abnormality
▪ Coeliac disease
▪ Short bowel syndrome
▪ Dietary protein intolerance  milk protein allergy
▪ Intestinal infection or parasite  giardiasis
▪ IBD
▪ Abetalipoproteinaemia  disorder of lipid metabolism
▪ Protein-energy malnutrition, intestinal venous or lymphatic obstruction  congestive heart
failure or intestinal lymphagiectasia
o Miscellanous
▪ Immunodeficiency syndromes  HIV
▪ Drug reactions  cytotoxics, post-radiation
▪ Bacterial overgrowth  pseudo-obstruction
Be able to take history / undertake examination to determine differential diagnosis in case of suspected malabsorption
64
• Intraluminal digestive defect
o Carbohydrate intolerance  eg. lactose intolerance
o Protein-energy malnutrition
o Cystic fibrosis
o Shwachman-Diamond syndrome
o Chronic pancreatitis
o Cholestasis
o Pernicious anaemia
o Specific digestive enzyme deficiency  eg. lipase
• Mucosal abnormality
o Coeliac disease
o Short bowel syndrome
o Dietary protein intolerance  eg. milk protein allergy
o Intestinal infection or parasites  eg. giardiasis
o IBD
o Abetalipoproteinaemia  disorder of lipid metabolism
• Miscellaneous
o Immunodeficiency syndromes  eg. HIV
o Drug reaction  eg. cytotoxics, post-radiation
o Bacterial overgrowth  eg. pseudo-obstruction
Be aware of first line investigations

• Initial screening tests should include
o FBC o Ca2+ o Coeliac antibody
o U&E o Phosphate screen
o Creatinine o LFT o Coagulation
o Albumin o Iron status screen
o Total protein o Stool MC&S
• If diagnosis is still unclear  consider
o Upper GI endoscopy with biopsy for enteropathy
o Ileocolonscopy if features suggest colitis  ensure clotting is normal prior
o Sweat test  CF
o Immune function tests
o Faecal fat measurement & elastase
o Faecal alpha-1 anti-trypsin
o Exocrine pancreatic function tests
Be aware of parasitic infections as a differential diagnosis especially with malabsorption from travels abroad
• Infection of intestinal parasites is usually via the faecal-oral route  pets & lifestock can be hosts
• Parasitic infections can mimic IBD, hepatitis, sclerosing cholangitits, peptic ulcer disease and coealic disease
• Clinical presentation
o Abdominal pain o Intestinal obstruction
o Diarrhoea, dysentery, flatulence o Biliary obstruction, liver disease
o Malabsorption & FTT o Pancreatitis
o Abdominal distension o Fever
PROTOZOA
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• Giardia lamblia  swallowed cysts develop into trophozoites that attach to the small intestinal villi causing
mucosal damage
• Entamoeba histolytica
• Cryptosporidium  organism causes a mild self-limiting illness except in immunocompromised patients
66
FUNCTIONAL ABDOMINAL PAIN

Understand concept of colic and sources of parental advice and support
• ‘Colic’  used to describe a common symptom complex which occurs in the first few months of life 
paroxysmal, inconsolable crying/screaming accompanied by drawing up of the knees and passage of excessive
flatus  takes place several times a day, particularly in the evening
• Condition occurs in up to 40% of babies  typical in first few weeks of life and resolves by 4 months
• Colic is benign, but can be very frustrating and worrying to parent  may precipitate non-accidental injury to
children who are already at risk
• Support and reassurance should be given  Gripe water is often recommended, but its benefit is unproven
• If sever and persistent  may be due to a cow’s milk protein allergy or gastro-oesophageal reflux  an
empirical 2 week trial of a whey hydrolysate formula may be considered
• The NHS recommends going to the GP if the parent is worried so that advice can be given  there is also the
health visitor, friends and family who can help support
• A group call CRY-SIS can give support to parent who find their babies crying
Understand history, examination and investigation findings that would point to diagnosis of functional (recurrent)
abdominal pain
• Defined as more than 2 discrete episodes in a 3 month period interfering with school and/or usual activities
• Incidence is 10-15% of school age children
• No organic cause is found in 90% of cases  these include
o Constipation o Abdominal migraine  cyclic vomiting
o Dietary indiscretion syndrome
o Food intolerance  lactose or o Gallbladder disease
fructose o Renal colic
o Irritable Bowel Syndrome o Dysmenorrhoea
o Psychogenic pain o UTI
o Peptic ulcer o Mittleschmerz
o Coeliac disease o Abuse  physical or sexual
• Presentation
o Non-organic disease  occurs in a thriving, generally well child  short episodes of peri-umbilical
pain, good appetite, no other GI symptoms, no FHx of migraine or coeliac disease and normal
examination  co-existent symptoms such as headache and fatigue are common  often referred to
as recurrent abdominal pain syndrome
o Organic disease  likely if presentation is different to above or child <2yrs  ‘red flag’ symptoms
▪ Weight loss
▪ Diarrhoea
▪ Blood per rectum
▪ Joint symptoms
▪ Skin rashes
▪ FHx of IBD or Coeliac disease
• History
o Ethnic origin  lactase deficiency occurs in dark skinned races
o Atopy
o Relationship to eating
o Precipitating factors  cow’s milk introduction
o Social history  start school, parents splitting up
o Family history
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• If non-organic cause is suspected then very little investigations is need
• If organic cause is suspected then FBC, ESR/CRP, U&E, LFT, urine/faecal MC&S and coeliac antibody screening
Understand role of multidisciplinary team in its management

• Doctor  diagnose, investigate and treat
• Nurses  provide reassurance, advice and monitor
• Dietician  help with weight gain and nutrition
• Psychiatrist  depends if cause is non-organic
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CROHNS DISEASE/ULCERATIVE COLOITIS

Be aware of presenting features
• Symptoms
o Anorexia, weight loss & lethargy
o Abdominal cramps
o Diarrhoea ± blood/mucus, urgency & tenesmus
o Fever
• GI signs
o Aphthous oral ulcers
o Abdominal tenderness
o Abdominal distension (UC>CD)
o RIF mass (CD)
o Peri-anal disease (CD)  abscess, sinus, fistula,
skin tags, fissure, stricture
Understand differences in pathology and clinical signs/symptoms of Crohn’s and ulcerative colitis
• Ulcerative colitis
o Recurrent, inflammatory and ulcerating disease involving the mucosa of the colon
o Rectal is most common or may extend continuously up to involve the entire colon (pancolitis)
o Terminal ileum may be affected by ‘backwash ileitis’
o Disease presents with rectal bleeding, diarrhoea and colicky pain  weight loss and growth failure
may occur  extraintestinal features include erythema nodosum and arthritis
o Diagnosis is made on endoscopy and histological features  after exclusion of infective causes of
colitis  histology should mucosal inflammation, crypt damage and ulceration
o Managed using aminosalicylates (ASA) for maintenance and induction  immunomodulatory therapy
may be used in more aggressive or extensive cases
o Severe fulminating disease is a medical emergency  requires IV fluid and steroids
• Crohn’s disease
o May affect any part of GI tract, but terminal ileum and proximal colon are the commonest sites of
involvement
o Unlike UC, bowel involvement is non-continuous  ‘skip’ lesions
o Crohn’s is transmural, focal, subacute or chronic inflammatory disease  initially there are areas of
acutely inflamed, thickened bowel  subsequently, strictures of the bowel and fistulae may develop
between adjacent loops of bowel, skin or other orgns
o May be mistaken for psychological problems or anorexia nervosa  presence of raised inflammatory
markers (platelets, ESR & CRP), iron deficiency anaemia and low serum albumin are helpful in
diagnosis
o Diagnosis is based on endoscopic and histological findings on biopsy  presence of non-caseating
epithelioid cell granulomata (30% of cases)  small bowel imaging may show narrowing, fissuring,
mucosal irregularities and bowel wall thickening
o Remission is induced when normal diet is replaced with whole protein modular feeds (polymeric) for
6-8 weeks  effective in 75% of cases  systemic steroids if not effective
o Relapse is common and immunosuppressant medication may be required to maintain remission
Be aware of extra systemic manifestations

• Complications
o Toxic mega colon  UC>CD o Pseudopolyps
o GI perforation or strictures o Massive GI haemorrhage
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o Colon carcinoma  UC 50% risk after o Fistula
10-20yrs o Abscesses  CD
• Non-GI signs & associations
o Fever o Eyes  iritis, conjunctivitis, episcleritis
o Finger clubbing o Poor growth
o Anaemia o Delayed puberty
o Skin  erythema nodosum, pyoderma o Sclerosing cholangitis
gangrenosum o Renal stones
o Joints  arthritis, ankylosing o Nutritional deficiencies  vitamin B12
spondylitis
Be aware of main treatment options
• Supportive treatment  bowel rest, IV hydration and PN
• Drug treatment
o Mild to moderate disease  Mesalazine (ASA) may be useful to induce and maintain colonic disease
remission in UC  ASA or corticosteroid enemas are effective for treating rectal disease
o Moderate to severe disease  induce remission with oral prednisolone or IV methylprednisolone (1-
2mg/kg/day) until condition has improved, then wear over 6-8 weeks
o Antibiotics  Ciprofloxacin or Metronidazole may be useful
o Maintenance treatment  immunomodifiers (Azathrioprine, Ciclosporin, Tacrolimus or Methotrexate)
or Infliximab (anti-TNF)
• Dietary treatment  polymeric/elemental diets are useful to induce remission (CD>UC), but the relapse rate
is high  dietary supplementation is often required
• Surgical treatment
o UC  total colectomy & ileostomy, later pouch creation and anal anastomosis  cures UC  10-20%
complication rate
o CD  local surgical resection for severe localised disease  there is a high re-operation rate as
inflammation recurrence is universal
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GASTRITIS
Understand symptoms, signs and aetiologies of gastritis
• Causes of gastritis
o H.pylori infection
o Stress ulcer  post-trauma, HIE
o Drug related  NSAIDs
o Increased acid secretion  Zollinger-Ellison syndrome, multiple endocrine neoplasia type I,
hyperparathyroidism
o Crohn’s disease
o Eosinophilic gastroenteritis
o Hypertrophic gastritis
o Autoimmune gastritis
• Symptoms of gastritis  often asymptomatic
o Chronic abdominal and epigastric pain
o Nausea ± vomiting
o GI haemorrhage
o FFT ± anorexia
o Iron deficiency anaemia
o Peforation  very rare
o General symptoms  indigestion, bloating, hiccups and loss of appetite
• Peptic ulcer  gnawing/burning feeling in the abdomen, below the ribs and above umbilicus  pain often
reduced by eating food, drinking milk or taking antacids  ulcers can bleed causing haematemesis or melena
Be aware of role of helicobacter pylori in gastritis

• Usually H.pylori does not cause a problem in children  however, if left untreated it can cause gastritis, a
peptic ulcer and stomach cancer later in life
• Most H.pylori infections are silent and produce no symptoms  but if they do they are the symptoms of
gastritis and peptic ulcer disease
• It can be identified on a urease breath test (13C)  stool antigen may be positive in infected children, but
serological testing is unreliable in children
• Children with suspected H.pylori should be treated with the quadruple therapy discussed in treatments
Be aware of lifestyle factors (e.g. alcohol / smoking) in gastritis

• Eat smaller and more frequent meals
• Avoid irritant foods  acidic, spicy, fried
• Drink alcohol in moderation
• Avoid NSAIDs
• Manage stress
• Reduce smoking
Be aware of the causes and treatment of gastric duodenal ulcers

• Treat underling cause  eradicate H.pylori with 7-10 days oral amoxycillin (clarithromycin), bismuth,
metronidazole ± omeprazole  quadruple therapy
• Decrease gastric acid production  PPI, H2 antagonist, sucralfate (cytoprotective)
• Antacids  aluminium hydroxide
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MESENTERIC ADENTITIS
Understand concept and differential diagnosis
• Mesenteric adentitis (MeA)  a condition that mimics acute appendicitis and is usually the result of an
intercurrent viral infection
• Children with MeA typically present with
o Fever
o Malaise
o Central abdominal pain
• Associated with non-specific abdominal pain (NSAP)  diagnosis of mesenteric adenitis can only be made
definitively in those children in whom large mesenteric nodes are seen at laparotomy or laparoscopy and
whose appendix is normal
• NSAP is abdominal pain which resolves in 24-48hrs  pain is less severe than appendicitis, and tenderness if
RIF is variable  it is often accompanied by URTI with cervical lymphadenopathy
• In some cases, the abdominal signs do not resolve and an appendectomy is performed
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Community Paediatrics CP2 Learning Objectives Child Health
COMMUNITY PAEDIATRICS AND PSYCHIATRY

DEVELOPMENTAL DISORDERS
Outline the diagnostic criteria and assessment with awareness of key professionals involved in the management of
autism and aspergers syndrome
• The new classification system eliminates the previously separate subcategories on the autism spectrum,
including Asperger syndrome, PDD-NOS, childhood disintegrative disorder and autistic disorder  these
subcategories will be folded into the broad term autism spectrum disorder (ASD)
DIAGNOSTIC CRITERIA FOR AUTISM SPECTRUM DISORDER

• Persistent deficits in social communication and social interaction across multiple contexts, as manifested by
the following, currently or by history (examples are illustrative, not exhaustive; see text)
o Deficits in social-emotional reciprocity, ranging, for example, from abnormal social approach and
failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or affect; to
failure to initiate or respond to social interactions
o Deficits in nonverbal communicative behaviors used for social interaction, ranging, for example, from
poorly integrated verbal and nonverbal communication; to abnormalities in eye contact and body
language or deficits in understanding and use of gestures; to a total lack of facial expressions and
nonverbal communication
o Deficits in developing, maintaining, and understand relationships, ranging, for example, from
difficulties adjusting behavior to suit various social contexts; to difficulties in sharing imaginative play
or in making friends; to absence of interest in peers.
• Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least two of the
following, currently or by history (examples are illustrative, not exhaustive; see text):
o Stereotyped or repetitive motor movements, use of objects, or speech (e.g., simple motor
stereotypes, lining up toys or flipping objects, echolalia, idiosyncratic phrases).
o Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal
behavior (e.g., extreme distress at small changes, difficulties with transitions, rigid thinking patterns,
greeting rituals, need to take same route or eat same food every day).
o Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to
or preoccupation with unusual objects, excessively circumscribed or perseverative interests).
o Hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment
(e.g. apparent indifference to pain/temperature, adverse response to specific sounds or textures,
excessive smelling or touching of objects, visual fascination with lights or movement).
• Symptoms must be present in the early developmental period  but may not become fully manifest until
social demands exceed limited capacities, or may be masked by learned strategies in later life
• Symptoms cause clinically significant impairment in social, occupational, or other important areas of current
functioning.
• These disturbances are not better explained by intellectual disability (intellectual developmental disorder) or
global developmental delay. Intellectual disability and autism spectrum disorder frequently co-occur; to make
comorbid diagnoses of autism spectrum disorder and intellectual disability, social communication should be
below that expected for general developmental level.
73
Students will be able to list, describe and examine the gross and fine motor developmental milestones of children and
describe how vision impairment may affect these domains
GROSS MOTOR MILESTONES
• Gross Motor (physical) skills  are those which require whole body movement and which involve the large
(core stabilising) muscles of the body to perform everyday functions, such as standing, walking, running, and
sitting upright. It also includes eye-hand coordination skills such as ball skills (throwing, catching, kicking).
Possible implications if milestones not Blind or visually impaired milestones

Age Developmental milestones
achieved
• Rolls over front to • Poor muscle development for • Holds head steady while being
back and back to front locomotion moved
• Sits with support and • Delayed ability to play • Lifts head up when on belly
then independently independently • Elevates self by arms when on
belly (totally blind or LP only
babies may not do this until after
0-6 they roll from back to belly)
months • Sits with some support
• Rolls from tummy to back, vice
versa
• Sits alone steadily
• Pulls to standing
• Moves forward through crawling,
creeping or any other method
• Crawls forwards on • Delayed sensory development • Pulls self to sitting position

belly due to decreased ability to • Pulls to standing position (using
• Assumes a seated explore the environment furniture)
• Sits down
position unaided • Poor muscle development
• Attempts to walk (while holding
• Creeps on hands and • Delayed play skills
your hand)
knees • Creeps forward on hands and
• Transitions into knees 3 feet or more
different positions: • Takes coordinated steps (while
6-12 sitting, all fours, lying holding your hand)
on tummy • Stands alone
months
• Pulls self to stand • Bends down to pick up object
• Walks sideways holding on to
• Walks while holding
furniture
onto furniture • Walks alone (3 steps)
• Takes 2-3 steps • Walks alone with good
without support coordination (5 steps)
• Rolls a ball in • Pushes small obstacles out of the
imitation of an adult way
• Walks about house or garden
independently
• Sits, crawls, walks • Delayed play skills • Moves around large obstacle
• Still has wide gait but • Difficulty interacting with the Walks up stairs with help, down
18 stairs with help
walking/running is environment due to delayed
months
less clumsy ability to mobilise effectively
• Poor muscle development
74
• Pushes against a ball

(does not actually kick
it)
• Walks smoothly and • Poor muscle development for • Squats

turns corners running and jumping
• Begins running • Delayed ability to play
• Is able to pull or carry independently and interact
a toy while walking with the environment
• Climbs onto/down • Decreased ability to interact
2 years from furniture socially
without assistance
• Walks up and down
steps with support
• Picks up toys from the
floor without falling
over
• Imitates standing on • Decreased opportunities for • Runs

one foot social interaction • Jumps
• Imitates simple • Poor development of body • Climbs
bilateral movements awareness and movement
of limbs (e.g. arms up planning skills
together) • Difficulties using playground
• Climbs jungle gym equipment
and ladders • Difficulties or lack of
3 years
• Pedals a tricycle confidence interacting with
• Walks up/down stairs other children in active
alternating feet environments (e.g. play cafes,
• Jumps in place with playgrounds)
two feet together
• Able to walk on tip
toes
• Catches using body
• Stands on one foot for • Lack of confidence in

up to 5 seconds movement based activities
• Kicks a ball forwards • Difficulties using playground
• Throws a ball overarm equipment
• Catches a ball that has • Difficulties or lack of
been bounced confidence interacting with
• Runs around other children in active
4 years
obstacles environments (e.g. play cafes,
• Able to walk on a line playgrounds)
• Able to hop on one
foot
• Jumps over an object
and lands with both
feet together
75
• Able to walk up stairs • May result in poor self-esteem • Easily walks backwards
while holding an when comparing self to peers • Hops on 1 foot
object • Lack of confidence in
• Walks backward toe- movement based activities
heel • Difficulties participating in
• Jumps forward 10 sporting activities
times without falling • Difficulties playing with moving
• Skips forwards after toys such as bikes and scooters
5 years demonstration
• Hangs from a bar for
at least 5 seconds
• Steps forward with
leg on same side as
throwing arm when
throwing a ball
• Catches a small ball
using hands only
• Runs lightly on toes • Difficulty participating in

• Able to walk on a sporting activities
balance beam • May result in poor self-esteem
• Able to skip using a when comparing self to peers
skipping rope • Lack of confidence in
• Can cover 2 metres movement based activities
6 years
when hopping
• Demonstrates mature
throwing and catching
patterns
• Mature (refined)
jumping skills
FINE MOTOR MILESTONES

• Fine motor skills  are finger and hand skills such as writing, cutting, opening lunch boxes, and tying
shoelaces. The development of these skills relies upon the age appropriate development of physical skills
(such as core trunk control and shoulder strength) providing the stable base from which the arm and hand
can then move with control
Possible implications if milestones Blind or visually impairemted

Age Developmental Milestones not achieved milestones
• Reflexive grasp (at birth) • Poor muscle development • Plays with hands
• Global ineffective reach for and control Uses hands for purposeful
objects (3 months) • Delayed ability to play action
• Voluntary grasp (3 months) independently Retains object placed in hand
0–6 • 2 handed palmar grasp (3 • Delayed sensory Plays with toys that produce
months months) development due to sound
• 1 handed palmar grasp delayed interaction with • Reaches for object in contact
(5 months) toys and other sensory with body with 1 hand
• Controlled reach (6 objects • Places objects in mouth
months)
76
• Uses pads of fingertips to grasp

small objects
• Transfer object from hand to
hand
• Brings object to midline
• Pulls objects out of container
• Reaches, grasps, puts • Poor development of hand • Explores different textures

object in mouth and finger strength Places object in container
• Controlled release of • Poor manipulation of Pulls string to activate toy
objects objects resulting in delayed Plays pat-a-cake
• Static Pincer grasp (thumb play skills • Places one peg repeatedly into
6 – 12 and one finger) • Delayed sensory hole
months • Picks things up with pincer development due to lack of
grasp (thumb and one sensory play experiences
finger)
• Transfers objects from one
hand to another
• Drops and picks up toys
• Builds tower of three small • Poor development of hand • Stacks large objects
blocks and finger strength
• Puts four rings on stick • Delayed independent play
• Places five pegs in skills
pegboard • Delayed development of
• Turns pages two or three of self care skills (such as
a book at a time eating)
• Scribbles • Delayed manipulation skills
• Turns knobs
1 -2 years • Paints with whole arm
movement, shifts hands,
makes strokes
• Self-feeds with minimal
assistance
• Able to use signing to
communicate
• Brings spoon to mouth
• Holds and drinks from cup
independently
• Strings four large beads • Delayed self-care skills • Uses hands for complex tasks
• Turns single pages of a (such as eating) • Throws a ball
book • Delayed pre-writing skill
• Snips with scissors development
• Holds crayon with thumb • Delayed manipulation of
and fingers (not fist) small objects such as toys,
• Uses one hand consistently pencils and scissors
in most activities • Frustration when
2- 3 years
• Imitates circular, vertical, manipulating small toys and
and horizontal strokes objects
• Paints with some wrist
action, makes dots, lines,
circular strokes
• Rolls, pounds, squeezes,
and pulls playdough
• Eats without assistance
77
• Builds tower of nine small • Delayed pre-writing skill

blocks development
• Copies circle • Frustration and/or
• Imitates cross avoidance of pencil based
• Manipulates clay material tasks
3 – 4 yrs (rolls balls, makes snakes, • Poor pencil grasp and
cookies) pencil control
• Uses non-dominant hand to • Poor self-care skills (such as
assist and stabilise the use eating)
of objects • Delayed drawing skills
• Snips paper using scissors
• Cuts on line continuously • Difficulties holding and • Copies simple shapes

• Copies cross manipulating a pencil
• Copies square • Difficulties learning to write
• Writes name name and other letters of
• Writes numbers 1-5 the alphabet
4 -5 yrs • Copies letters • Dependence on caregivers
• Handedness is well for every day activities such
established as dressing
• Dresses and undresses • Frustration and/or
independently avoidance of pencil based
tasks
• Cuts out simple shapes • Difficulties learning to

• Copies triangle form letters and numbers
• Colours within lines correctly
• Uses a 3 fingered grasp • Poor handwriting
of pencil and uses fingers to • Difficulties
generate movement demonstrating academic
5 – 6 yrs
• Pastes and glues ability on paper
appropriately • Fatigue during pencil
• Can draw basic pictures based tasks
• Frustration and/or
avoidance of pencil based
tasks
• Forms most letters and • Difficulties getting

numbers correctly ideas down on paper
• Writes consistently on • Experiences fatigue
the lines during handwriting tasks
• Demonstrates controlled • Difficulty keeping up in
pencil movement class due to slow
• Good endurance for writing handwriting speed
• Can build Lego, K’nex and • Poor legibility of
6 -7 yrs
other blocks independently handwriting
• Ties shoelaces • May impact on self-esteem
independently when comparing work to
peers
• Possible frustration and/or
behavior difficulties due to
tasks
78
• Maintains legibility • Difficulty

of handwriting for entirety completing handwriting
of a story tasks in a timely manner
• Experiencing fatigue
during handwriting tasks
• Poor academic
7- 8 yrs
achievement due to
difficulty getting ideas
down on paper
• Difficulties due to
tasks
Outline the neurological examination that will then guide a differential diagnoses list for motor skills delay
BRIEF NEUROLOGICAL SCREEN
• A quick neurological and developmental overview should be performed in all children  when doing this:
o Use common sense to avoid unnecessary examination
o Adapt it to the child’s age
o Take into consideration the parent’s account of developmental milestones.
• Watch the child play, draw or write  are the manipulative skills normal? Can he walk, run, climb, hop, skip,
dance? Are the child’s language skills and speech satisfactory? Are the social interactions appropriate? Does
vision and hearing appear to be normal?
• In infants, assess primarily by observation:
o Observe posture and movements of the limbs.
o When picking the infant up, note their tone  the limbs and body may feel normal, floppy or stiff 
head control may be poor, with abnormal head lag on pulling to sitting
• Most children are neurologically intact and do not require formal neurological examination of reflexes, tone,
etc  more detailed neurological assessment is performed only if indicated  specific neurological concerns
or problems in development or behaviour require detailed assessment
• If the child has a neurological problem  a detailed and systematic neurological examination is required
PATTERNS OF MOVEMENT
• Observe walking and running  normal walking is with a heel–toe gait
• Assessment can be incorporated into playing a game, for example: ‘pretend you are on a tightrope, how fast
can you run?’ A toe–heel pattern of walking (toe-walkers) although often idiopathic, may suggest pyramidal
tract (corticospinal) dysfunction, a foot drop (common or superficial peroneal nerve lesion), or tight tendo-
achilles due to a neuromuscular disease
• Children with myopathy may also develop tight Achilles tendon due to weakness
• If you are unsure whether a gait is heel–toe or toe–heel, look at the pattern of shoe wear
• A broad-based gait may be due to an immature gait (normal in a toddler) or secondary to a cerebellar
disorder
• Proximal muscle weakness around the hip girdle can cause a waddling gait
• Corticospinal tract lesions give a dynamic pattern of movement involving shoulder adduction, forearm
pronation, elbow and wrist flexion with burying of the thumb, whereas internal hip rotation and flexion at the
hip and knee and plantar flexion at the ankle give a characteristic circumduction pattern of lower limb
movement
• If subtle, these are more evident with asking the child to adopt an unusual pattern of walking, e.g. to walk on
his heels or toes or with feet inverted
79
• Extrapyramidal lesions give fluctuating tone, with difficulty in initiating or involuntary movements. Look for
asymmetry (see Fig. 4.4).
• Observe standing from lying down supine  children up to 3 years of age will turn prone in order to stand
because of poor pelvic muscle fixation; beyond this age, it suggests neuromuscular weakness (e.g. Duchenne
muscular dystrophy) or low tone, which could be due to a central (brain) cause  the need to turn prone to
rise or, later, as weakness progresses, to push off the ground with straightened arms and then climb up the
legs is known as Gowers sign
COORDINATION
• Assess this by:
o asking the child to build one brick upon another or using a peg-board, and do up and undo buttons,
draw, copy patterns, write
o asking the child to hold his arms out straight and close his eyes, and then observing for drift or tremor
(this is really looking for asymmetry, position sense, and neglect of one side with visual cues removed)
o finger–nose testing (use teddy’s nose to reach out and touch if necessary)
o rapid alternating movements of hands and fingers
o touching tip of each finger in turn with thumb
o asking the child to walk heel–toe, jump and hop.
• Subtle asymmetries in gait may be revealed by Fogg’s test  children are asked to walk on their heels, the
outside and then the inside of their feet  watch for the pattern of abnormal movement in the upper limbs
• Observe them running
INSPECTION OF LIMBS
• Muscle bulk
o Wasting may be secondary to cerebral palsy, meningomyelocele, muscle disorder or from previous
poliomyelitis
o Increased bulk of calf muscles may indicate Duchenne muscular dystrophy, or myotonic conditions.
• Muscle tone
o Tone, in limbs
o Best assessed by taking the weight of the whole limb and then bending and extending it around a
single joint  testing is easiest at the knee and ankle joints  assess the resistance to passive
movement as well as the range of movement
o Increased tone (spasticity) in adductors and internal rotators of the hips, clonus at the ankles or
increased tone on pronation of the forearms at rest is usually the result of pyramidal dysfunction 
this can be differentiated from the lead-pipe rigidity seen in extrapyramidal conditions, which, if
accompanied by a tremor may be termed ‘cog-wheel’ rigidity
o The posture of the limbs may give a clue as to the underlying tone  e.g. scissoring of the legs,
pronated forearms, fisting, extended legs suggests increased tone  sitting in a frog-like posture of
the legs suggests hypotonia, while abnormal posturing and extension suggests fluctuating tone
(dystonia)
• Truncal tone
o In extra-pyramidal tract disorders  the trunk and head tend to arch backwards (extensor posturing)
o In muscle disease and some central brain disorders, the trunk may be hypotonic  the child feels
floppy to handle and cannot support the trunk in sitting
• Head lag  this is best tested by pulling the child up by the arms from the supine position
POWER
• Difficult to test in babies
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• Watch for antigravity movements and note motor function  both will tell you a lot about power
• From 6 months onwards, watch the pattern of mobility and gait  watch the child standing up from lying and
climbing stairs
• From the age of 4 years, power can be tested formally against gravity and resistance  first testing proximal
muscle and then distal muscle power and comparing sides
REFLEXES
• Test with the child in a relaxed position and explain what you are about to do before approaching with a
tendon hammer, or demonstrate on parent or toy first
• Brisk reflexes may reflect anxiety in the child or a pyramidal disorder
• Absent reflexes may be due to a neuromuscular problem or a lesion within the spinal cord  but may also be
due to inexpert examination technique
• Children will reinforce reflexes if asked
PLANTAR RESPONSES
• In children the responses are often equivocal and unpopular as it is unpleasant  they are unreliable under 1
year of age
• Upgoing plantar responses provide additional evidence of pyramidal dysfunction
SENSATION
• Testing the ability to withdraw to tickle is usually adequate as a screening test
• If loss of sensation is likely  e.g. meningomyelocele or spinal lesion (transverse myelitis, etc.)  more
detailed sensory testing is performed as in adults
• In spinal and cauda equina lesions there may be a palpable bladder or absent perineal sensation
CRANIAL NERVES
• Before about 4 years old you need some ingenuity to test for abnormal or asymmetric signs – make it a game;
ask them to mimic you:
I Need not be tested in routine practice. Can be done by recognising the smell of a hidden mint
sweet.
II Visual acuity – determined according to age. Direct and consensual pupillary response tested
to light and accommodation. Visual fields can be tested if the child is old enough to cooperate.
III, IV, VI Full eye movement through horizontal and vertical planes. Is there a squint? Nystagmus –
avoid extreme lateral gaze, as it can induce nystagmus in normal children.
V Clench teeth and waggle jaw from side to side against resistance.
VII Close eyes tight, smile and show teeth.
VIII Hearing – ask parents, although unilateral deafness could be missed this way. If in doubt, needs
formal assessment in a suitable environment.
IX Levator palati – saying ‘aagh’. Look for deviation of uvula.
X Recurrent laryngeal nerve – listen for hoarseness or stridor.
XI Trapezius and sternomastoid power – shrug shoulders and turn head against resistance
XII Put out tongue and look for any atrophy or deviation.
PGALS
• pGALS is the examination that would be used to assess motor skills in children. It stands for paediatric gait,
arms, legs and spine. It starts by asking three screening questions:
o Do you have an pain in your joints  
o Do you have an pain or trouble walking  
o Do you have an pain or problems dressing yourself
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• Once the screening questions have been asked the examination can begin. Start by looking at the child (only
wearing shorts for boys and similar exposure for girls whilst preserving modesty) from the front, side and back
for any obvious wasting, deformity or other problems
• GAIT  Get the child to walk normally, on their heels and on their toes to assess this
• ARMS  Get the child to put their arms out and look at their hands (both sides) for wasting or other
deformities. Assess their pronation and supination. Get them to screen their hands into a fist. Get them to
touch each finger to their thumb. Squeeze gently between their 2nd and 5th finger to check for pain. Get
them to put their hands together and elbows straight out. Do the same but with the back of the hands now
touching. Get the child to stretch their hands into the air and then put their head back. Get the child to put
their hands behind their head with elbows pointing out. Get the child to put their head to either shoulder
• LEGS  Get the child to lay down before assessing legs. Get the child to bring each ankle, in turn, up to their
bottom. Then pick up each leg and check it form mobility. Check the knee for oedema and excess fluid using
two techniques (1 – push down from above the knee to move fluid into the knee, 2 – push around the knee in
a circle to check for fluid).  SPINE – Get the child to stand and then reach for their toes.  
Students will be able to list and describe communication problems and language/speech delay
• Speech is categorised into the section with hearing and language
Age Skill
Newborn Starts to loud noise
3-4 months Vocalises alone or when spoken to, coos and laughs
7 months Turns to soft sounds out of sight
7-10 months At 7 months uses sounds indiscriminately and discriminately at 10 months
12 months Two or three words other than mama or dada
18 months 6-10 words, shows two parts of body
20-24 months Uses two or more words to make simple phrases
2½ -3 years Talks constantly in 3-4 word sentences
• Limit ages for speech are:

o Polysyllabic babble  7 months  
o Consonant babble  10 months  
o Saying 6 words with meaning  18 months  
o Joins words  2 years  
o 3-word sentences  2½ years
• A child may have a deficit in either receptive or expressive speech and language, or both  the deficit may be
a delay or a disorder
• Speech and language delay may be due to:  
o Hearing loss  
o Global developmental delay  
o Difficulty in speech production from an anatomical deficit  e.g. cleft palate  
o Environmental deprivation  
o Normal variant/familial pattern
• Speech and language disorder may be due to:
o Language comprehension  
o Language expression  inability to produce speech whilst knowing what is needing to be said
o Phonation and speech production such as stammering, dysarthria or verbal dyspraxia  
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o Pragmatics (difference between sentence meaning and speakers meaning), construction of
sentences, semantics, grammar  
o Social/communication skills  autistic spectrum disorder
• Speech and language problems are usually first suspected by parents or primary healthcare professionals  a
hearing test and assessment by a speech and language therapist are the initial steps  in early years there is
a considerable overlap between language and cognitive development 
Be able to identify key delays when performing a developmental assessment

• Global developmental delay implies a delay in acquisition of all skill fields  gross motor, vision and fine
motor, hearing and speech, and language and cognition, social/emotional and behavioural  it usually
becomes apparent in the first 2 years of life
• Global developmental delay is likely to be associated with cognitive difficulties  although these may only
become apparent several years later  when children become older and the clinical picture is clearer, it is
more appropriate to describe the individual difficulties  such as learning disability, motor disorder and
communication disorder
• Below is the remaining section (social, emotional and behavioural development) that has not been covered
above
Age Skill
6 weeks Smiles responsively
6-8 months Puts food in mouth
10-12 months Waves bye-bye, plays peek-a-boo
12 months Drinks from a cut with two hands
18 months Holds spoon and gets food to mouth
18-24 months Symbolic play
2 years Dry by day, pulls off some clothing
2½ to 3 years Parallel play, takes turn, interactive play evolving
• Limit ages for above area:

o Smiles – 8 weeks  
o Fear of strangers – 10 months  
o Feeds self/spoon – 18 months  
o Symbolicplay–2–21⁄2years  
o Interactive play – 3 – 3 1⁄2 years  
Create a differential diagnosis based on development history and assessment
Plan the initial investigations of a child with global developmental delay
Outline the diagnostic criteria for ADHD and its management

• ADHD usually has its onset before the age of 6-7  is characterised by impaired attention or hyperactivity or
impulsivity  impaired attention includes difficulty sustaining attention in work or play, not listening when
being spoken to and being highly distractible  hyperactivity includes restlessness, fidgeting, running and
jumping around in inappropriate situations, excess noisiness and difficulty engaging in quiet activities  they
also often interrupt others, cannot wait their turn and may prematurely blurt out answers to questions
• It is important that these symptoms are evident in more than one situation  i.e. at school and at home 
should be present for at least 6 months
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• It is also important to distinguish ADHD from age appropriate behaviour in young active children  other
aspects should be considered to explain the behaviour  such as is the child in a class above or below their
level of intellect and are there concurrent mental illnesses such as depression
DMS-5 DIAGNOSTIC CRITERIA

• A persistent pattern of inattention and/or hyperactivity-impulsivity that interferes with functioning or
development
• Six or more of the symptoms have persisted for at least six months to a degree that is inconsistent with
developmental level and that negatively impacts directly on social and academic/occupational activities
Please note: The symptoms are not solely a manifestation of oppositional behaviour, defiance, hostility, or
failure to understand tasks or instructions
For older adolescents and adults (age 17 and older), five or more symptoms are required
• Several inattentive or hyperactive-impulsive symptoms were present prior to age 12 years
• Several inattentive or hyperactive-impulsive symptoms are present in two or more settings (e.g. at home,
school, or work; with friends or relatives; in other activities)
• There is clear evidence that the symptoms interfere with, or reduce the quality of, social, academic or
occupational functioning
• The symptoms do not occur exclusively during the course of schizophrenia or another psychotic disorder and
are not better explained by another mental disorder (e.g. mood disorder, anxiety disorder, dissociative
disorder, personality disorder, substance intoxication or withdrawal)
EPIDEMIOLOGY AND AETIOLOGY

• The prevalence in the USA is 3-7% in school aged children compared to only 1% in the UK  perhaps due to
narrower diagnostic criteria
• The male to female ration is 3-9:1  causes are not yet known, although genetic, dietary and psychosocial
factors as well as brain damage have all been implicated
MANAGEMENT AND PROGNOSIS

• Pharmacological
o CNS stimulants  such as methylphenidate (Ritalin) and dexamphetamine  shown to be highly
effective in 3⁄4 of children  producing increased concentration and academic efficiency
o Antidepressants and some antipsychotics are second line
• Psychotherapy
o Behavioural modification and family education are important
o Permissive parents are not helpful in this situation
• Improvements usually occur with development and remission of symptoms usually occuring between the ages
of 12 and 20  although 15% of patients have symptoms persisting into adulthood  unstable family
dynamics and coexisting conduct disorder are associated with a worse prognosis
Awareness of key professionals involved and the management of ADHD

• Psychiatrist, teachers, parents, doctors, nurses and pharmacists.  
Describe the history, examination and management of enuresis

DAYTIME ENURESIS
• Daytime enuresis is due to a lack of bladder control in the day in a child old enough to be continent  over
the age of 3-5
• It may be caused by
o A lack of attention to bladder sensation  with detrusor instability
o Bladder neck weakness
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o A neuropathic bladder  associated with spinal bifida and is where bladder is enlarged and fails to
properly empty
o UTI
o Constipation
o An ectopic ureter  constant dribbling
• Examination may reveal a neuropathic bladder (distension) and there may be abnormal perineal sensation
and anal tone or abnormal leg reflexes and gait  sensory loss in the distribution S2, 3 and 4 should also be
sought
• Urine should be examined by microscopy and cultured
• An ultrasound may be useful in showing incomplete emptying  whilst urodynamic studies may help
demonstrate a thickened bladder neck (primarily with ultrasound)
• Affected children in whom a neurological cause has been excluded may benefit from star charts, bladder
training and pelvic floor exercises
• Constipation should be treated and anticholinergic drugs may be helpful
SECONDARY ENURESIS
• Secondary enuresis is the loss of previously achieved urinary continence  may be due to emotional upset, a
UTI and polyuria
• Investigations should include testing the urine for infection, glucose and protein, assessment of urinary
concentrating ability and ultrasound of the renal tract.
NOCTURNAL ENURESIS
• Nocturnal enuresis is quite a common problem  with about 6% of 5 year olds and 3% of 10 year olds not
being dry at night  boys outnumber girls 2 to 1
• There is a genetically determined delay in acquiring sphincter competence with two thirds of children with
enuresis having an affected first degree relative  there may also be interference in learning to become dry
at night
• Young children need reasonable freedom from stress and a measure of parental approval in order to learn
night time continence  emotional stress can interfere with this process and cause secondary enuresis
• Organic causes are uncommon  but include UTI, faecal retention enough to cause bladder neck dysfunction,
and polyuria due to diabetes or renal concentrating disorders  a urine sample should always be tested for
glucose, protein and infection
• Triad of pathophysiology
o Decreased ADH  diurnal rhythm  desmopressin
o Unstable bladder  keep urine dilute and increased toilet use  oxybutynin to relax bladder
o Development of bladder control  bed wetting alarm
• The management for nocturnal enuresis is straight forward but painstaking to succeed
• After the age of 4  enuresis resolves spontaneously in only 5% of children  so in practice treatment is
rarely undertaken before 6 years of age
• The first step is to explain to both the child and parent that the problem is common and beyond conscious
control  the parents should stop punishing the child
• Star charts can help by encouraging the child for not wetting the bed  alternatively an enuresis alarm may
be used to wake the child and prompt them to empty their bladder
• Desmopressin can provide short-term relief for holidays or sleepovers as it is an analogue of antidiuretic
hormone
• Self help groups are also available to provide support
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Awareness of key professionals involved in the management of specific learning difficulties and global intellectual
disability
• Most healthcare professions, parents and teachers are involved
List the common causes of learning difficulties either in isolation or as part of global delay
• Learning difficulties can be classified as
o Mild (IQ 70-80)
o Moderate (IQ 50-70)
o Severe (IQ 35-50)
o Profound (IQ <35)
• Severe and profound learning difficulties are usually apparent from infancy as marked developmental delay 
whereas moderate learning difficulties emerge only as a delay in speech and language
• Mild learning difficulties may only become apparent when the child starts school or even later
• Most children have an organic cause and these include:
o Prenatal
▪ Genetic  Downs, fragile X, microcephaly, hydrocephalus  
▪ Vascular  occlusions, haemorrhage  
▪ Metabolic  hypothyroidism, Phenylketonuria  
▪ Teratogenic  alcohol and drug abuse  
▪ Congenital infection  rubella, cytomegalovirus, HIV, toxoplasmosis  
▪ Neurocutaneous syndromes  tuberous sclerosis, neurofibromatosis
o Perinatal
▪ Extreme prematurity  
▪ Birth asphyxia  
▪ Metabolic  symptomatic hypoglycaemia, hyperbilirubinaemia
o Postnatal  
▪ Infection  meningitis, encephalitis  
▪ Anoxia  near drowning, suffocation, seizures  
▪ Trauma  head injury  
▪ Metabolic  hypoglycaemia, inborn errors or metabolism  
▪ Vascular  stroke  
Describe the diagnostic criteria of dyspraxia

DEFINITION
"chronic and usually permanent condition characterised by impairment of both functional performance and quality of
movement that is not explicable in terms of intellect, or by any other diagnosable neurological or psychiatric features.
Individuals with DCD display a qualitative difference in movement which differentiated them from those of the same
age without the disability. The nature of these qualitative differences, whilst considered to change over time, tends to
persist through the life span.” (Fox and Polarajko 1994)
DSM V CRITERIA
• Motor performance that is substantially below expected levels, given the person's chronologic age and
previous opportunities for skill acquisition. The poor motor performance may manifest as coordination
problems, poor balance, clumsiness, dropping or bumping into things; marked delays in achieving
developmental motor milestones (e.g., walking, crawling, sitting) or in the acquisition of basic motor skills
(e.g., catching, throwing, kicking, running, jumping, hopping, cutting, colouring, printing, writing).
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• The disturbance in Criterion A, without accommodations, significantly and persistently interferes with
activities of daily living or academic achievement.
• Onset of symptoms is in the early developmental period.
• The motor skill deficits are not better explained by intellectual disability (intellectual development disorder) or
visual impairment and are not attributable to a neurological condition affecting movement (e.g., cerebral
palsy, muscular dystrophy, degenerative disorder).
CLINICAL PRESENTATION
• The effects of dyspraxia are different from person to person, and usually include sensory processing
difficulties (e.g. hypersensitive to sound, light or touch) and several, or most of the following:
o Clumsiness or lack of co -ordination; difficulty tying shoe laces; bumping into things; “falling over thin
air”; poor coordination in ball games.
o Difficulty planning, being on time, and organising work
o Forgetfulness and poor short-term memory.
o Slow and/or illegible hand writing.
o Problems and slowness copying off the blackboard due to dyspraxia in the small muscles of the eye
making focusing slower than normal.
o Heightened sensory sensitivity and discomfort. This may affect eating, hair washing, the sense of
touch, hearing or vision. The world may be experienced as “too loud, too bright, too fast, and too
tight”.
o Sometimes children with dyspraxia are fidgety and restless; they are not comfortable on an ordinary
chair.
o They may appear untidy and not aware of personal hygiene.
o Though people with Dyspraxia can enjoy competitive sport, they are unlikely to make the top teams
due to lack of co-ordination or slow processing of fast changing activity. (P.E. lessons are often a
cause of humiliation and some children will try anything to avoid sports lessons) Individual sports like
running, swimming, rowing and karate are a good alternative to team sports
o They may be easily distractible, and better in one-to-one teaching situations.
o They may have a poor observational and memory of sequencing. Machinery (like photocopiers) may
need to have a “How to use me” label on it to jog their memories.
o Because of their own differences in body movement, not noticing other people’s body language they
may have difficulty making, or keeping friends.
o Dyspraxic children often feel side lined at school and may have behaviour difficulties, become the
class ‘clown’, or withdraw from activities and become loners.
o They often have poor sense of direction. A “buddy” in a new environment can be very helpful to
prevent dyspraxic children (and adults) getting lost.
o Depression is common in adults with dyspraxia.
o On the other hand, people with Dyspraxia are often intelligent, creative, good problem solvers, direct
in speech, original thinkers, hard working and, if their needs are met and have a lot to offer a school,
college or work place.
Discriminate between a stammer and speech impediment
STAMMER/STUTTER
• A stammer or stutter is a speech disorder in which the flow of speech is disrupted by involuntary repetitions
and prolongations of sounds (mostly vowels), syllables, words or phrases and involuntary silent pauses or
blocks in which the stutterer is unable to produce sound
• For many stutterers repetition is the primary problem and blocks and prolongations are learned mechanisms
to mask repetition as the fear of repetitive speaking in public is often the main cause of psychological unease
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• Many young children go through this stage between the ages of 2 and 5  in many cases the stutter will go
by the age of 5 but it can last longer
• There are a variety of factors that are thought to contribute towards this condition:
o Genetics  about 60% of those who stutter have a close family member who stutters  
o Other speech and language problems or developmental delays  
o Differences in the brain’s processing of language  
o Interruption and competition with siblings  
SPEECH IMPEDIMENT
• A speech impediment is a type of communication disorder where normal speech is disrupted  this can
mean stuttering, lisps or being completely unable to speak
• These conditions can be classified as:  
o Stuttering  
o Lisping  protruding the tongue between the front teeth while producing ‘s’ and ‘z’ sounds.  
o Muteness  
o Articulation disorders  
o Voice disorders  
o Dysarthria
• This can be caused for a number of reasons  including congenital health conditions such as poor hearing
and a cleft palate
• Other causes are birth defects that affect the muscles and bones of the face, as well as the digestive system
and larynx  many of these can be remedied by appropriate speech and language therapy 
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SAFEGUARDING
Outline the history and examination involved in a child protection assessment and list the categories of abuse
• Abuse and neglect can be categorised into physical abuse, emotional abuse, sexual abuse, neglect and
fabricated or induced illness (FII)
PHYSICAL ABUSE
• Any form of intentional physical harm to the child  this will present as fractures, bruises, burns and bites 
this can often be difficult to differentiate from a genuine condition or injury
• Factors that indicate the injury may have been intentional include
o The history given
o The plausibility of the explanation
o Any background of previous abuse
o Delay in reporting the injury
o Inconsistent stories
o An inappropriate reaction of the parent(s) who is vague, evasive, unconcerned or excessively
distressed or aggressive
NEGLECT
• This is the persistent failure to meet a child’s basic physical and/or psychological needs  likely to result in
the serious impairment of the child’s health or development
• It may involve the failure to provide food, clothing, shelter, protection, supervision or access to medical care
• Think about neglect when the child consistently misses medical appointments, lacks glasses or immunisations,
seems ravenously hungry, is dirty, is wearing inadequate clothing, is abusing drugs/alcohol, says there is no-
one at home  also consider neglect if the parent appears to be indifferent to the child, seems apathetic or
depressed, behaves irrationally or in a bizarre manner and is abusing alcohol or drugs
EMOTIONAL ABUSE
• This is the persistent emotional mistreatment of a child resulting in severe and persistent adverse effects on
the child’s emotional development  it can involve conveying that the child is worthless or unloved
• It can features a predominantly developmentally unrealistic expectations being imposed on the child  it may
involve seeing or hearing the ill treatment of another and may also involve serious bullying that causes the
child to feel frightened or in danger  this is the hardest type of abuse to identify
• It is important to consider is the child: the ‘wrong’ gender, born at a time of parental separation or violence,
or seen as unduly difficult
• There may also be clues from the behaviour of the child depending on their age:
o Babies  apathetic, non-demanding, delayed development, described by the mother as spoiled,
attention seeking, in control or not loving her.  
o Toddlers and preschool children  violent, apathetic, fearful  
o School children  wetting, soiling, relationship difficulties, non-  attendance, antisocial behaviour  
o Adolescents  self-harm, depression, oppositional, aggressive and  delinquent behaviour,  
• Being bullied is increasing recognised as an important form of emotional abuse and every school should have
a policy in place to deal with it
SEXUAL ABUSE
• This involves forcing the child to take part in sexual acts  including prostitution
• The activity may involve physical contact, including penetrative acts such as rape, buggery or oral sex, and/or
non-contact activities involving children looking at or producing pornographic material or watching sexual
activities or encouraging children to behave in a sexual inappropriate way
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• The child or young person may tell someone about the abuse, be identified in porn, be pregnancy (under 13
years is always sexual abuse), have an STI, have vaginal bleeding, itching, or discharge, have rectal bleeding.
• They may also have behavioural symptoms including soiling, secondary enuresis, self harm, aggressive or
sexualised behaviours, regression and poor school performance
• Signs are hard to detect and the genital regions heal quickly, destroying forensic evidence
• Examination should be by a specially trained doctor
FABRICATED OR INDUCED ILLNESS

• In >80% of cases, it is the mother  it can consist of verbal fabrication or the induction of illness (suffocation,
poisoning, excessive substances  i.e. salt, excess medication and the use of medically provided ports of
entry i.e. stoma
• Organic illness can coexist with fabrication which makes things even more difficult  clues include frequent
presentations that only occur in the carer’s presence and are not substantiated by clinical findings
Awareness of key professionals involved in the management of non-accidental injury (NAI)/Physical abuse
• Police, doctors, specialist paediatric doctor in each hospital that has responsibility for this, social workers,
nurses and teachers are all responsible
Be aware of neglect and psychological deprivation forms of child abuse and the impact they can have on the child
• Psychosocial deprivation can lead to a shortened height, underweight and a delay in puberty
• Children can catch up if placed in a nurturing environment
Awareness of key professionals involved in the care of such children

• Police, doctors, specialist paediatric doctor in each hospital that has responsibility for this, social workers,
nurses and teachers are all responsible
Have an awareness of fabricated and induced illness in paediatric medicine and the differential diagnosis
• This is a broad term to describe a group of behaviours by parents (or carers)  but usually the mother
(>80%), which cause harm to children  it fulfils the parents (or carers) own needs
• It may consist of verbal fabrication  parents fabricate (i.e. invent) symptoms and signs in the child, telling a
false story to healthcare professionals, leading them to believe the child is ill and requires investigation and
treatment  medical and nursing staff are used as the instrument to harm the child through unnecessary
interventions, including medication, hospital stays, intrusive tests and surgery  in community settings, the
false stories may lead to medication, special diets and a restricted lifestyle or special schools
• Induction of illness may involve:
o suffocation of the child, which may present as an acute life-threatening event (ALTE)
o administration of noxious substances or poisons
o excessive or unnecessary administration of ordinary substances (e.g. excess salt)
o excess or unnecessary use of medication (prescribed for the child or others)
o the use of medically provided portals of entry (such as gastrostomy buttons, central lines).
• Organic illness, may coexist with fabricated or induced illness in a child, making the fabrication more difficult
to identify  it may manifest as overprotection, imposing unwarranted restrictions or giving treatment that is
inappropriate or excessive
• A clue may be that the condition only occurs when the offending parent/carer is present or following a
hospital visit  the condition can be extremely difficult to diagnose, but may be suspected if the child has
frequent unexplained illnesses and multiple hospital admissions with symptoms that only occur in the carer’s
presence and are not substantiated by clinical findings
• This disorder can be very damaging to the child, as unnecessary investigations and potentially harmful
treatment are likely to be given  the child also learns to live with a pattern of illness rather than health
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• In induced poisoning, the diagnosis is often difficult but can usually be made by identifying the drug in the
blood or urine
Be aware of the presenting features and risk factors for child sexual abuse
• Sexual abuse involves forcing or enticing a child or young person to take part in sexual activities, including
prostitution, whether or not the child is aware of what is happening
• The activities may involve physical contact, including penetrative acts such as rape, buggery or oral sex,
and/or non-contact activities, such as involving children in looking at or producing pornographic material or
watching sexual activities or encouraging children to behave in sexually inappropriate ways
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CHILD & ADOLESCENT MENTAL HEALTH (CAMH)

Outline the diagnostic criteria for anorexia and eating disorders and its management.
• The psychopathology in these two conditions takes the form of an overvalued idea  is characterised by a
dread of fatness resulting in patients imposing a low target weight  this can be achieved through poor
calorific intake, self-induced vomiting, excessive exercise or the use of drugs
• Anorexia  body weight maintained at least 15% below normal or a BMI below 17.5kg/m2  there is also
evidence of generalised endocrine disturbances  i.e. amenorrhoea in post-menarchal women, loss of sexual
interest, raised GH and cortisol, reduced T3  pubertal events may be delayed or arrested in certain age
groups
• Bulimia  patients usually have a normal body weight  the characteristic feature is a preoccupation with
eating and an irresistible craving for food that results in binge eating  this is associated with a feeling of lack
of control and inevitably feelings of shame and disgust  to counteract this patients engage in purging
(vomiting, laxatives and diuretic use), fasting or excessive exercise  Russell’s sign – calluses on the back of
hands when the hand has been used to induce vomiting
• ICD-10 criteria for anorexia and bulimia nervosa
• Anorexia  all of the following
o Low body weight (BMI<17.5)  
o Self-induced weight loss  
o Overvalued idea  
o Endocrine disturbances  failure to make expected development if prepubertal
• Bulimia  all of the following
o Binge eating  
o Methods to counteract weight gain  
o Overvalued idea
o Other symptoms and complications
• Patients often complain of a low mood and anxiety  this may be surrounding eating but can often be
generalised.  tf these symptoms are severe enough then they can be said to be co-morbid to the eating
disorder
• Complications  there are many, many complications related to starvation and vomiting  perhaps the one
worth remembering is hypokalaemia with repeated vomiting which can be life threatening  this should be
treated gradually and the patient should be encouraged to eat potassium rich foods – i.e. bananas.  
DIFFERENTIALS
• Almost any medical condition may lead to weight loss  so this should be considered before considering
anorexia or bulimia
• Other important conditions are
o Depression
o OCD
o Psychotic disorders
o Dementia
o Alcohol or substance abuse
EPIDEMIOLOGY AND AETIOLOGY

• Both conditions have a female to male ratio of 10:1
o Bulimia (3-5%) tends to be more common than anorexia (1%) with an incidence of 12.2 per 100,000
compared with 4.2 per 100,000
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o Anorexia tends to onset in mid to late adolescence and bulimia onsets slightly later at late
adolescence to early adulthood
• Social economic class is no longer thought to play a large role  no cause for either anorexia or bulimia has
been identified also both biological and psychosocial factors have been implicated
• Genetics  win studies have shown higher incidences in monozygotic twins  1st degree relatives also have a
higher incidence of eating disorders as well as mood disorders  neurotransmitter levels are also thought to
play a part as serotonin is thought to suppress food consumption and some anorectics have been shown to
have increased concentrations
• Environment  Western culture undoubtedly plays a big part in both conditions
o With anorexia it is also thought that families, who are overprotective, over involved, avoid conflict
and are resistant to change, may be at risk  other theories suggest that sexual maturity presents a
conflict to anorectics so they avoid menstruation to stop a change in body shape
o With bulimia it is clear that a past history of dieting increasing the risk of developing bulimia eight fold
 perfectionism, low self-esteem, alcohol abuse, substance abuse, personality disorders and
depression are all associated conditions
ANOREXIA MANAGEMENT
• These patients are the hardest to treat due to their ambivalence towards treatment coupled with the
consequences of starvation  poor concentration, lethargy, depression
• The first option is to educate patients about nutrition and monitoring of weight  most useful in those who
only diet excessively  their weight can be regularly monitored and self help groups may be useful
• The preferred treatment is some form of brief outpatient psychotherapy with the encouragement of family
involvement  some of these options are
o Psychoeducation about nutrition and weight  advice, education motivation
o Nutritional management and weight restoration  negotiate target weight, eating plans, teaching
shopping and cooking skills
o CBT  20-24 session exploring issues of self control, low self-esteem and perfectionism
o IPT  improving social functioning and interpersonal skills
o Family therapy  affective if living with family and onset before 18
o Psychodynamic psychotherapy  reserved for specialists in eating disorders 
• There should be a low threshold for referral to a specialised eating disorder unit  especially with patients
who are resistant to outpatient treatment and who have severe anorexia or poor prognostic factors  eg.
long duration of illness, late age of onset, very low weight, associated bulimic symptoms, personality
difficulties, poor family relationship, poor social adjustment 
• Hospitalisation may be considered with very low weights (BMI<13.5), rapid weight loss, electrolyte
abnormalities (particularly sodium and potassium), and syncope  occasionally it may be necessary to treat
patients against their will and includes nasogastric or IV feeding
• The use of medication is limited and special care should be taken in patients with a very low weight  SSRIs
may be useful for treating co-morbid depression and OCD  Fluoxetine may be helpful in maintaining weight
gain and preventing relapse
BULIMIA MANAGEMENT
• Patients with bulimia tend to be more motivated to improve and are usually a healthy weight
• Treatment is mostly psychological and ranges from psychoeducation, self help groups and manuals in mild
cases, to CBT and IPL in more serious cases
• TCAs and SSRIs (fluoxetine 60mg) have been shown to reduce bingeing and purging behaviours but
psychotherapy remains the treatment of choice
• Co-morbid substance abuse and depression are common so should be managed
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PROGNOSIS
• Anorexia  up to 50% of patients recover and return to a normal weight, eating and menstruating  25% of
patients go on to develop normal weight bulimia  a third of all patients fail to recover and the mortality is
over 10% (the highest of all psychiatric disorders)  half of these deaths are due to complications of
starvation and a third are due to suicide
• Bulimia  the course is also variable but generally better than anorexia with 50-70% if patients making a
recovery after 2-5 years  there is no increase in mortality  poor prognostic factors include severe bingeing
and purging behaviours, low weight and co-morbid depression
Be aware of the impact of chronic disease on growth, development and psychological wellbeing
• Chronic illness is a relatively common cause of abnormal growth these children are usually short and
underweight
• Inadequate nutrition may be due to insufficient food, restricted diet or poor appetite associated with chronic
illness, or from increased nutritional requirement for a raised metabolic rate
• Chronic illnesses which may present with short stature  include Coeliac disease, Crohn’s disease and chronic
renal failure
• Psychologically the cognitive response can lie anywhere along the spectrum of over-acceptance to denial,
with fluctuation over time  in over acceptance the child may allow the illness to overtake their life resulting
in more impairment than is expected for level of symptoms, and high levels of anxiety about the slightest
symptoms  with denial symptoms and warning signs may be ignored and treatment poorly adhered to
• The emotional response to diagnosis and at times of relapse, may have similarities to a bereavement reaction
or reaction to loss, with shock, denial, anger followed by acceptance and adjustment
• The behavioural response in young children tends to be a regression when stressed and behaviour younger
than they actually are  a toddler may become overactive or clingy and display sleep and feeding difficulties.
• Finally the somatic response can include expression of worry and distress through bodily symptoms  such as
recurrent abdominal pain.
• Children suffering from chronic illness are more susceptible to mental health problems  but this is related
to the nature of the illness, the stage, the age of the child, the temperament, intellectual capacity and family
factors
Have an awareness of the impact in adolescence on compliance/adherence/concordance of psychological issues

• Adherence in adolescents with a chronic disease is generally poor and leads to greater complications and
admissions.
Outline the characteristics for school refusal and its management

• School refusal is an inability to attend school on account of overwhelming anxiety  such children may not
complain of anxiety but of its physical concomitants or the consequences of hyperventilation
• Anxiety may present as complaints of nausea, headache or otherwise not being well  which are confined to
weekday, term-time mornings, clearing up by midday
• It may be rational, as when the child is being bullied or there is educational underachievement
• If it is disproportionate to stresses at school it is termed school refusal, an anxiety problem with two common
causes  the first is separation anxiety from parents persisting beyond the toddler years and the second is
anxiety provoked by some aspect of school  these two can coexist.
• School refusal based on separation anxiety is typical of children under the age of 11  can be provoked by an
adverse life event such as illness, family death or moving house
• Treatment is aimed at gently promoting increasing separations from the parents whilst arranging an early
school return
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• Some adolescents with school refusal have a depressive disorder  but more usually there is an interaction
between an anxiety disorder and long-standing personality issues such as intolerance of uncertainty
• Management is the following:
o Advice and support parents and school about the condition  
o Treat any underlying emotional disorder  
o Plan and facilitate an early and graded return to school  
o Help the parents make it more rewarding for the child to go to school than stay at home  
o Address bullying or educational difficulties if present  
Awareness of key professionals involved in its management

• Doctor, psychologist, teachers, parents etc
Outline the key aspects of history and management of tantrums, behavioural difficulties and conduct disorder
TANTRUMS
• Normal toddlers often go through a phase of refusing to comply with parent’s demands, sometimes angrily 
all this can demoralise and exhaust parents
• These are an ordinary response to frustration, especially not being allowed to have or do something  they
are common and normal in young preschool children
• To analyse a tantrum use the ABC approach
o Antecedents  what happens in the minutes before
o Behaviour  what did the episode consist of
o Consequences  what happened as a result
• Next check for potential medical causes  such as a global language delay, hearing impairment and
medication (bronchodilators and anticonvulsants)
• The easiest course of action is to distract the child  but if this cannot be done then let the tantrum burn
itself out by leaving the room and returning a few minutes later  this should be done calmly without the
threat of abandonment  the parent should not give in
• An alternative method is using a time out by placing the child in an area where no-one will speak to them  1
minute per year of life)
• Disobedience can be dealt with by using a star chart and acknowledgement of good behaviour
General steps:
1. Ensure your demands are reasonable  
2. Tell the child what you want them to do rather than what you don’t  
3. Praise for compliance  
4. Use positive instructions
5. Avoid threats  
6. Ignore minor episodes  
7. Give affection and attention before the tantrum  
8. Distraction  
9. Avoid antecedents  
10. Ignoring  
11. Time out  
12. Hold child firmly if they are being dangerous  
13. Star charts  
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DIFFICULT BEHAVIOUR
• This covers a range of problems including aggressive behaviour and antisocial behaviour  generally the
same rules that apply to tantrums should apply here too
Conduct Disorder
• This occurs usually before the age of 18  it mostly affects boys by the age of 10-12 and girls by 14-16
• This disorder is characterised by the repetitive and persistent pattern of aggression to people and animals,
destruction of property, deceitfulness or theft and major violations of age appropriate societal expectation or
rules e.g. truancy
• Aetiological factors include
o Genetics
o Parental psychopathology
o Abuse
o Neglect
o Education
o Socioeconomic status
• It affects 5-15% of adolescent boys and 2-10% of girls  with a female to male ratio of 3-12:1
• Many improve whilst some go on to develop an antisocial personality disorder and substance related
problems
• Management strategies include behavioural, cognitive, family and group therapies
• Opposition defiant disorder describes a pattern of defiant and hostile behaviour that does not violate the law
or basic rights of others
Awareness of key professionals involved in the management of behaviour difficulties and conduct disorder
• Psychiatrist, teachers, police, parents etc
Recognise the features of depression and the at risk groups in children

• It is a clinical condition that is more than just sadness  it extends to motivation, judgement, the ability to
experience pleasure and provokes emotions of guilt and despair
• It may disturb sleep, appetite and weight  leads to social withdrawal an important sign
• It can occasionally affect pre-pubertal children  it is generally comparable to depression in adults but there
are differences:
o More common than adults  apathy, boredom, separation anxiety, decline in school performance,
social withdrawal, hypochondriacal ideas, irritable mood, antisocial behaviour  
o Less common than adults  loss of appetite and weight, loss of sleep, libido, slowing of thought and
movement, delusional ideas
• A diagnosis of depression depends critically on interviewing the child on their own
• Treatment depends upon severity  with mild depression it can be managed in primary care and many will
recover spontaneously  hence a period of watchful waiting for 4 weeks may be appropriate  alternatively
non-directive support therapy can be offered or guided self-help
• If mild depression does not respond to these in 2-3 months  then the child should be referred to a specialist
 all children with moderate or severe depression should be referred
• In a specialist setting they may offer CBT, IPT, and family therapy  if psychotherapy is insufficient after 6
weeks then an SSRI (fluoxetine) should be considered  if suicidal then admission may be needed.  
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Define psychosis and key questions that help discriminate it when obtaining a history
• Psychosis is a breakdown in the perception and understanding of reality and a lack of awareness that the
person is unwell  this can affect ideas and beliefs, resulting in a delusional thinking where abnormal beliefs
are help with an unshakable quality and lead to odd behaviour
• The connectedness and coherence of thoughts may break down so that speech is hard to follow  leading to
thought disorder
• Perceptual abnormalities lead to hallucinations  where a perception is experienced in the absence of a
stimulus
• The psychotic disorders include:
o Schizophrenia  no specific medical cause is found and there is generally no major disturbance of
mood other than flattening of affect  
o Bipolar affective disorder  where psychosis is associated with lowered mood as in depression or
elevated as in mania  
o Organic psychosis  occurs in delirium, substance induced disorders and dementia
• Both schizophrenia and bipolar are rare before puberty  but increase in frequency during adolescence
• Investigations should include
o Urine dip drug screen
o Exclusion of medications-induced psychosis
o Exclusion of medical causes & dementia
• When psychosis is suspected there should be urgent referral to the psychiatrist for a comprehensive
assessment and treatment with antipsychotics, psycho-education, family therapy and individual therapy  if
an organic cause then this needs treating promptly.  
Describe the methods of self harm in adolescence and outline strategies in eliciting an accurate history which
incorporates their emotional health
• PATHOS tool
o P – Have you had problems for longer than a month?
o A – Were you alone in the house at the time?
o T – Did you plan the overdose for longer than three hours?
o HO – Are you feeling hopeless about the future?
o S – Were you feeling sad for most of the time before the overdose?
• Score 1 for yes and 0 for no. Child is a high risk of >2
Awareness of the categories of recreational illicit drugs

• Class A – ecstasy, LSD, heroin, morphine, cocaine and methadone
• Class B – amphetamine, cannabis and dihydrocodeine
• Class C – GHB, temazepam, valium, temgesic, ketamine  
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CHRONIC FATIGUE SYNDROME

Describe the diagnostic criteria and differential diagnosis for CFS/ME
• This condition refers to persisting high levels of subjective fatigue  leading to rapid exhaustion on minimal
physical or mental exertion
• The term is broader and more neutral than the specific pathology or aetiology implied by myalgic
encephalopathy or post-viral fatigue syndrome  which follows an apparently viral febrile illness
• There is sometimes serological evidence of recent infection with coxsackie B virus or EBV or a hepatitis virus
 some cases have no history of evidence of a precipitating infection and there are no specific diagnostic
tests
• The clinical picture is somewhat diffuse and there are no pathognomonic symptoms  myalgia, migratory
arthralgia, headache difficulty getting off to sleep, poor concentration and irritability are virtually universal 
stomach pains, scalp tenderness, eye pain and photophobia and tender cervical lymphadenopathy are
frequently encountered
• Depressive symptoms are just as much of the picture and there is continuing debate as to how much of the
picture is physical and how much is psychological
• The majority of cases will remit with time but this can take months or even years
Outline the management strategies

• Recommended treatment involved graded exercise therapy and/or cognitive behavioural therapy
• Graded exercise therapy is usually provided by physiotherapists and aims to achieve gradual increase in
exercise tolerance  however if too much pressure is put on the child then this can lead to tantrums or mute
withdrawal
• It is important to maintain as much of a normal life as possible including school attendance
• The mood of depressed children can respond to antidepressant medication but this is unlikely to alleviate the
fatigability
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SLEEP DISORDERS
Outline the different types of physiological sleep disorder in childhood and briefly describe their management
DIFFICULTY IN SETTLING TO SLEEP AT BEDTIME
• This is a common problem in the toddler years  the child will not go to sleep unless the parent is present.
• Most instances are normal expressions of separation anxiety  but there may be other obvious reasons for it
which can be explored in taking a history
• These include:
o Too much sleep in the afternoon  
o Displaced sleep wake cycle (sleeping in late due to disturbed sleep)  
o Separation anxiety  
o Overstimulation in the evening  
o Kept awake by sibling, noisy neighbours of TV  
o Erratic parental practices (no bedtime routine, sudden removal from  play to bed)  
o Use of bedroom as punishment  
o Dislike of darkness and silence  
o Some chronic physical conditions  
• Many cases will respond to simple advice  including creating a bedtime routine which cues the child to what
is required and telling the child to lie quietly in bed until he/she falls asleep
• If this does not work then a more active intervention is needed  this involves the parents imposing a graded
pattern of lengthening periods between tucking their child up in bed and coming back after a few minutes to
visit, but leaving the room before the child falls asleep, even if they are protesting  the object is to provide
the opportunity for the child to learn how to fall asleep alone, a skill not yet developed
WAKING AT NIGHT
• This is normal but some children cry because they cannot settle themselves back to sleep without their
parent’s presence
• This is often associated with difficulty settling in the evening which should be addressed first
• The graded approach described above can also be used in the middle of the night  but parents may find it
helpful to take alternative nights so to share the burden
NIGHTMARES
• These are bad dreams which can be recalled by the child  they rarely require medical attention unless
frequent or stereotyped in content indicating a morbid preoccupation or symptoms of a psychiatric disorder
such as PTSD
NIGHT (SLEEP) TERRORS

• These are different from nightmares and occur about 1.5 hours after settling  the parent finds the child
sitting up in bed with eyes open, seemingly awake but obviously disorientated, confused and distressed and
unresponsive to their questions and reassurances  the child then settles to sleep after a few minutes and
has no recollection the next morning
• Sleepwalking has similar origins to this condition and parents need simple reassurance  the most important
intervention is to make the environment safe if they are sleep-walking
• A common cause is an erratic sleep schedule so a sleep routine may be helpful in preventing recurrence
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Surgery CP2 Learning Objectives Child Health
SURGERY
ACUTE ABDOMEN
Know the common causes in different age groups
• The differential diagnosis of acute abdominal pain in children is extremely wide  encompassing non-specific
abdominal pain, surgical causes, and medical conditions  in nearly half of the children admitted the pain will
resolve undiagnosed
• In young children it is essential not to delay the diagnosis and treatment of acute appendicitis  as
progression to perforation can be rapid  it is easy to belittle the clinical signs of abdominal tenderness in
young children
• Other causes
• Lower lobe pneumonia may cause pain referred to the abdomen
• Primary peritonitis is seen in patients with ascites from nephrotic syndrome or liver disease
• Diabetic ketoacidosis may cause severe abdominal pain
• Urinary tract infection  including acute pyelonephritis  is a relatively uncommon cause of acute
abdominal pain  but must not be missed  it is important to test a urine sample, in order to identify not
only diabetes mellitus but also conditions affecting the liver and urinary tract
NON-SPECIFIC ABDOMINAL PAIN

• Non-specific abdominal pain (NSAP) is abdominal pain which resolves in 24–48 h  yhe pain is less severe
than in appendicitis  tenderness in the right iliac fossa is variable
• It is often accompanied by an upper respiratory tract infection  with cervical lymphadenopathy
• In some of these children, the abdominal signs do not resolve and an appendicectomy is performed
• The diagnosis of mesenteric adenitis can only be made definitively in those children in whom large mesenteric
nodes are seen at laparotomy or laparoscopy and whose appendix is normal
Perform a clinical examination and plan initial investigations

• Abdominal examination is performed in three major clinical settings:
o The routine part of the examination
o An ‘acute abdomen’  ?cause
o Recurrent abdominal pain/distension/constipation mass.
• Examine:
o The eyes for signs of jaundice and anaemia
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o The tongue for coating and central cyanosis
o The fingers for clubbing.
INSPECTION
• The abdomen is protuberant in normal toddlers and young children  the abdominal wall muscles must be
relaxed for palpation
• Generalised abdominal distension is most often explained by the five ‘F’s:
o Fat
o Fluid  ascites – uncommon in children, most often from nephrotic syndrome
o Faeces  constipation
o Flatus  malabsorption, intestinal obstruction
o Fetus  not to be forgotten after puberty
• Occasionally, it is caused by a grossly enlarged liver and/or spleen or muscle hypotonia.
• Causes of localised abdominal distension are:
o Upper abdomen – gastric dilatation from pyloric stenosis, hepato/splenomegaly
o Lower abdomen – distended bladder, masses.
• Other signs:
o Dilated veins in liver disease, abdominal striae
o Operative scars (draw a diagram)
o Peristalsis – from pyloric stenosis, intestinal obstruction.
o Are the buttocks normally rounded, or wasted as in malabsorption  e.g. coeliac disease or
malnutrition
PALPATION
• Use warm hands, explain, relax the child and keep the parent close at hand  first ask if it hurts
• Palpate in a systematic fashion  liver, spleen, kidneys, bladder, through four abdominal quadrants
• Ask about tenderness  watch the child’s face for grimacing as you palpate  a young child may become
more cooperative if you palpate first with their hand or by putting your hand on top of theirs
TENDERNESS
• Location  localised in
o Appendicitis
o Hepatitis
o Pyelonephritis
o Generalised in mesenteric adenitis
o Peritonitis
• Guarding  often unimpressive on direct palpation in children  pain on coughing, on moving
about/walking/bumps during car journey suggests peritoneal irritation  back bent on walking may be from
psoas inflammation in appendicitis
• By incorporating play into examination, more subtle guarding can be elicited  for example, a child will not
be able to jump on the spot if they have localised guarding
HEPATOMEGALY
• Palpate from right iliac fossa
• Locate edge with tips or side of finger
• Edge may be soft or firm
• Unable to get above it
• Moves with respiration
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• Measure (in cm) extension below costal margin in mid-clavicular line.
• Percuss downwards from the right lung to exclude pseudohepatomegaly due to lung hyperinflation.
• Liver tenderness is likely to be due to inflammation from hepatitis.
SPLENOMEGALY
• Palpate from right iliac fossa
• Edge is usually soft
• Unable to get above it
• Notch occasionally palpable if markedly enlarged
• Moves on respiration (ask the child to take a deep breath)
• Measure size below costal margin (in cm) in mid-clavicular line.
• If uncertain whether it is palpable:
o Use bimanual approach to spleen
o Turn child onto right side.
o A palpable spleen is at least twice its normal size!
Outline the principles of resuscitation in patients with shock

• Regardless of the cause the primary assessment should be ABC
• The patient’s airway should be open or secured  high flow oxygen at 100% should be used  if in
respiratory distress consider intubation and mechanical ventilation  the patient will need appropriate non-
invasive monitoring and blood glucose should be taken at the bedside
• Consider the volumes lost from the vascular compartment and cardiovascular signs after a 25% loss (2% of
body weight)  if in shock then give 20ml/kg isotonic fluid over 5 minutes and reassess  the fluid may be
pushed through if needed  if 2-3 volumes are given then the child is at risk of bleeding and packed cells
should be given
• Dextrose administration is often necessary since children have relatively low glycogen stores which become
rapidly depleted during shock  if the bedside glucose check is low then give 0.5-1g/kg IV dextrose, ideally as
a continuous infusion
• Drugs such as vasopressors and cardiac inotropic agents may also be needed
• If sepsis is a concern then give broad spectrum antibiotic cover
Describe the clinical features and differential diagnosis of acute appendicitis

• Acute appendicitis is the commonest cause of abdominal pain in childhood requiring surgical intervention 
although it may occur at any age, it is very uncommon in children <3 years old
• The clinical features of acuteuncomplicated appendicitis are:
o Symptoms
▪ Anorexia
▪ Vomiting (usually only a few times)
▪ Abdominal pain, initially central and colicky (appendicular midgut colic), but then localising to
the right iliac fossa (from localised peritoneal inflammation)
o Signs
▪ Flushed face with oral fetor
▪ Low-grade fever 37.2–38°C
▪ Abdominal pain aggravated by movement, e.g. on walking, coughing, jumping, bumps on the
road during a car journey
▪ Persistent tenderness with guarding in the right iliac fossa (McBurney’s point)
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PRESCHOOL CHILDREN
• The diagnosis is more difficult, particularly early in the disease
• Faecoliths are more common and can be seen on a plain abdominal X-ray  inspissated faecal mass
• Perforation may be rapid  as the omentum is less well developed and fails to surround the appendix  the
signs are easy to underestimate at this age
• With a retrocaecal appendix, localised guarding may be absent  in a pelvic appendix there may be few
abdominal signs
• Appendicitis is a progressive condition so repeated observation and clinical review every few hours are key
to making the correct diagnosis  avoiding delay on the one hand and unnecessary laparotomy on the other
INVESTIGATIONS
• No laboratory investigation or imaging is consistently helpful in making the diagnosis
• A neutrophilia is not always present on a full blood count
• White blood cells or organisms in the urine are not uncommon in appendicitis  as the inflamed appendix
may be adjacent to the ureter or bladder
• Although ultrasound is no substitute for regular clinical review  it may support the clinical diagnosis 
thickened, non-compressible appendix with increased blood flow
• Ultrasound can also demonstrate associated complications  such as abscess, perforation or appendix mass
 and exclude other pathology causing the symptoms
• In some centres, laparoscopy is available to see whether or not the appendix is inflamed
MANAGEMENT
• Appendicectomy is straightforward in uncomplicated appendicitis
• Complicated appendicitis  includes the presence of an appendix mass, an abscess or perforation  if there
is generalised guarding consistent with perforation  fluid resuscitation and intravenous antibiotics are given
prior to laparotomy
• If there is a palpable mass in the right iliac fossa and there are no signs of generalised peritonitis  it may be
reasonable to elect for conservative management with intravenous antibiotics  with appendicectomy being
performed after several weeks
• If symptoms progress, laparotomy is indicated.
Be aware of the common pitfalls in acute appendicitis: atypical presentation “diarrhoea, tender RIF”, “tender RIF,
abnormal urine dipstick” – possible incorrect diagnosis of UTI
• Gastroenteritis should not be confused with appendicitis  with gastroenteritis the patient should have
nausea, vomiting and diarrhoea  also the vomiting will most likely precede the pain in gastroenteritis but
not in appendicitis
• The second pitfall is diagnosing a UTI  a neutrophilia is not always present on a full blood count but white
blood cells or organisms in the urine are not uncommon  this is because the inflamed appendix may be
adjacent to the ureter or bladder  here an ultrasound will help differentiate the two problems
• Retrocaecal appendix (15%) in which localised guarding may be absent and instead will localise to the psoas
muscle  in other patients the tip of the appendix is deep to the pelvis and the signs and symptoms localise
to the rectum or bladder (suprapubic).
Understand some of the late presentation of appendicitis e.g. appendicular mass and their management
• The two main late presenting cases are an appendicular mass and an appendicular abscess.
• An appendicular mass  a complication of appendicitis and is where the omentum and small bowel adhere to
the appendix  this usually presents with a fever and a palpable mass  initial treatment is usually
conservative with fluids, analgesia and antibiotics but urgent surgical intervention may be required if the mass
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enlarges or the patient’s condition deteriorates  recovery following conservative treatment is usually by
appendectomy
• An appendicular abscess  can be shown by ultrasound or CT scan and the initial treatment is by
percutaneous or open drainage  but open drainage also enables appendectomy  a worsening CRP with a
good history is a sure signal of rupture and abscess formation
Describe the clinical features and abdominal signs on intestinal obstruction

• Intestinal obstruction may be recognised antenatally on ultrasound scanning  otherwise, small bowel
obstruction presents with persistent vomiting  which is bile- stained unless the obstruction is above the
ampulla of Vater
• Meconium may initially be passed  but subsequently stool passage is usually delayed or absent
• Abdominal distension becomes increasingly prominent the more distal the bowel obstruction is  high
lesions will present soon after birth  whilst low lesions may not present for several days
• Abdominal pain in the patient is common  is usually colicky in nature before becoming more constant  it
may be noticeable that the child is unable to keep still.
• Abdominal tenderness may be minimal and diffuse or localised and severe  the abdomen may also be
tympanic to percussion  this can go on to become peritonitis  rectal examination should also be
performed
• Bowel sounds can be categorised as follows:
o Mechanical obstruction  produces active, high pitched, hyperactive bowel sounds  
o Peristalsis  may be increased in the upper abdomen and decreased in the lower  
o With time peristaltic waves and bowel sounds disappear
• Small bowel obstruction may be caused by:
o Atresia or stenosis of the duodenum  
o Atresia or stenosis of the jejunum or ileum  
o Malrotation or Volvulus  
o Meconium ileus  
o Meconium plug
• Large bowel obstruction may be caused by:
o Hirschsprung disease
o Rectal atresia  
Be aware of the diagnostic workup of potentially dangerous conditions like malrotation, intussusception; fluid
management and treatment
• Diagnosis is made on clinical features and abdominal x-ray showing intestinal obstruction  other tests that
may be useful include
o U&E’s o Urinalysis
o Creatinine o ABG
o Glucose o Stool for occult blood
o FBC
• Imaging should include an abdominal x-ray and potentially a chest x-ray to assess for perforation
• Treatment is often surgical  fluid management for these patients is important  firstly the patient needs to
be assessed for dehydration
o If there is no dehydration  then give maintenance fluids at 100ml/kg for first 1kg, 50ml/kg for
second 10kg then 20ml/kg for the remainder up to 2500ml/kg
o Ff dehydrated  then give the deficit  fluid deficit = % dehydration x weight in kg x 10
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MALROTATION
• During rotation of the small bowel in foetal life  if the mesentery is not fixed at the duodenojejunal flexure
or in the ileocaecal region  its base is shorter than normal and is predisposed to volvulus  Ladd bands may
cross the duodenum, contributing to bowel obstruction
• There are two presentations:
o Obstruction
o Obstruction with a compromised blood supply.
• Obstruction with bilious vomiting is the usual presentation in the first few days of life  but can be seen at a
later age  any child with dark green vomiting needs an urgent upper gastrointestinal contrast study to
assess intestinal rotation  unless signs of vascular compromise are present, when an urgent laparotomy is
needed
• At operation  the volvulus is untwisted, the duodenum mobilised and the bowel placed in the non-rotated
position with the duodenojejunal flexure on the right and the caecum and appendix on the left  he
malrotation is not ‘corrected’, but the mesentery broadened  the appendix is generally removed to avoid
diagnostic confusion in the event the child subsequently has symptoms suggestive of appendicitis
Outline the age at presentation and clinical features of intussusception

• Intussusception describes the invagination of proximal bowel into a distal segment  it most commonly
involves ileum passing into the caecum through the ileocaecal valve
• Intussusception is the commonest cause of intestinal obstruction in infants after the neonatal period 
although it may occur at any age, the peak age of presentation is between 3 months and 2 years
• The most serious complication is stretching and constriction of the mesentery  resulting in venous
obstruction  causing engorgement and bleeding from the bowel mucosa, fluid loss and subsequently bowel
perforation, peritonitis and gut necrosis
• Prompt diagnosis, immediate fluid resuscitation and urgent reduction of the intussusception are essential to
avoid complications
• Presentation is typically with:
o Paroxysmal, severe colicky pain and pallor  during episodes of pain, the child becomes pale,
especially around the mouth, and draws up his legs  they initially recovers between painful
episodes, but subsequently becomes increasingly lethargic
o May refuse feeds, may vomit, which may become bile-stained depending on the site of the
intussusception
o A sausage-shaped mass  often palpable in the abdomen
o Passage of a characteristic redcurrant jelly stool comprising blood-stained mucus  this is a
characteristic sign but tends to occur later in the illness and may be first seen after a rectal
examination
o Abdominal distension and shock
• Usually, no underlying intestinal cause for the intussusception is found  although there is some evidence
that viral infection leading to enlargement of Peyer’s patches may form the lead point of the intussusception
 in identifiable lead point such as a Meckel diverticulum or polyp is more likely to be present in children
over 2 years old
• Intravenous fluid resuscitation is likely to be required immediately  as there is often pooling of fluid in the
gut, which may lead to hypovolaemic shock
• An X-ray of the abdomen may show distended small bowel and absence of gas in the distal colon or rectum 
sometimes the outline of the intussusception itself can be visualised
• Abdominal ultrasound is helpful both to confirm the diagnosis and to check response to treatment  unless
there are signs of peritonitis, reduction of the intussusception by rectal air insufflation is usually attempted by
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a radiologist  this procedure should only be carried out once the child has been resuscitated and is under
the supervision of a paediatric surgeon in case the procedure is unsuccessful or bowel perforation occurs 
the success rate of this procedure is about 75%  the remaining 25% require operative reduction
• Recurrence of the intussusception occurs in less than 5%  but is more frequent after hydrostatic reduction
Understand the importance of prompt diagnosis and subsequent treatment including air enema reduction of
intussusception
• Prompt diagnosis is important along with immediate fluid resuscitation and urgent reduction of the
intussusception to avoid complications  this is because there is often pooling of fluid in the gut which may
lead to hypovolaemic shock
Describe the clinical features of Volvulus in relation to the anatomical abnormality

• Malrotation is an abnormality of the bowel which happens whilst the baby is developing  Volvulus is a
complication of malrotation and occurs when the bowel twists so the blood supply to that part of the bowel is
cut off  it is worth noting that Volvulus can occur without malrotation but they are often linked
• The key symptoms of Volvulus are
o Bloody or dark red stools o Nausea or vomiting  which is often
o Constipation bilious
o Distended abdomen o Failure to thrive
o Pain or tenderness of the abdomen o Shock
• A typical presentation is bouts of crying and pulling the legs in towards the body which then stops suddenly 
this is caused by cramps as the bowel cannot push food and liquid past the obstruction  if ischemia
develops then signs of an acute abdomen and peritonitis may be prominent
• Bilious vomiting is the key presenting symptoms and the child should be presumed to have volvulus unless
proven otherwise  infants presenting in the first 24 hours after birth through to the first week of life tend to
have more severe obstruction
Understand that bilious vomiting in a child is a worrying feature and always requires investigation.
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RED FLAGS FOR VOMITING
Describe the initial management of a child with a volvulus

INVESTIGATIONS
• The diagnosis is generally made clinically and management should not be delayed in order to obtain results
from tests
• FBC will help show the severity, white cells will show sepsis and a low Hb may suggest venous oozing
• Regular U&E’s are essential to assess hydration status as well as sepsis and acidosis  since such a large
volume of fluid can migrate from the bowel the patient may present without diarrhoea and vomiting
• Hyponatraemia, hyperkalaemia, metabolic acidosis, increased urea and creatinine, hypochloraemia and lactic
acidosis can occur in such cases
• In simple rotation  a plain radiograph can often be normal so upright, supine and lateral radiographs can be
more useful when combined  contrast studies are the best for diagnosing volvulus and obviously take time
 ultrasound and CT can also be done but are less necessary
MANAGEMENT
• Treatment is generally surgery and the volvulus is corrected by rotating the small intestine in an anti-
clockwise direction  with the caecum being placed on the left side and the duodenum directed down to the
right
• Initial management should include fluid resuscitation as with intussusception
Describe the epidemiology and clinical and radiological features of necrotising enterocolitis
• Necrotising enterocolitis is a serious illness mainly affecting preterm infants in the first few weeks of life 
pseudomonas aeruginosa is thought to be the cause  it is associated with bacterial invasion of ischaemic
bowel wall
• This is the most common GI emergency occurring in neonates and is an acute inflammatory disease with a
multifactorial and controversial aetiology
• The condition is characterised by variable damage to the intestinal tract from mucosal injury to full thickness
necrosis and perforation
• This condition represents a significant clinical problem  affects close to 10% of infants who weigh less than
1500g with mortality rates of 50% of more depending on severity  it can also be observed in term and near-
term babies but is less common
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• Males and females seem to be equally affected  there is no difference across races  there are 1-2 cases
per 1000 live births in the USA  those with a PDA are at increased risk
• NEC mostly affects the terminal ileum and proximal ascending colon  but can affect any part of the bowel
• Infants fed cow’s milk formula are more likely to develop this condition than if they are breast fed
• Initial symptoms can be subtle and include:
o Feeding intolerance o Ileus
o Delayed gastric emptying o Erythema
o Abdominal distension and tenderness
• May also present with systemic signs that are non-specific:
o Apnoea o Shock
o Lethargy o Cardiovascular collapse
o Decreased peripheral perfusion o Hypoglycaemia
• Specific symptoms that might be part of the history include
o Bilious vomiting o Free abdominal air
o Abdominal distension o Systemic shock
o Blood per rectum
• The characteristic x-ray features are distended loops of bowel and thickening of the bowel wall with
intramural gas  the disease may progress to perforation and x-ray will show gas under the diaphragm,
transillumination of the abdomen and intraperitoneal fluid
Outline the medical management and indications for surgery in necrotising enterocolitis
• Investigations should include
o FBC o ABG
o Blood cultures o Imaging  x-ray +/- ultrasound
o U&E’s
• Treatment is to stop oral feeding and give broad spectrum antibiotics to cover both aerobic and anaerobic
organisms
• Parenteral nutrition is always needed and artificial ventilation and circulatory support are often needed
• The disease has significant morbidity and mortality and the long-term sequelae include development of
strictures and malabsorption if extensive bowel resection has been necessary
Be aware of bowel artesias in the newborn period and their clinical/radiological features.
• Jejunoileal atresia and stenosis are major causes of neonatal intestinal obstruction  atresia refers to a
congenital obstruction that is complete  most newborns will present with a bilious vomit
• The prevalence is pretty low at 2 per 10,000 live births yet intestinal atresia counts for 1/3 of all neonatal
intestinal obstruction  the atresia can be in the duodenum (heavily associated with Down syndrome),
jejunum or ileum
• They present with • Additional early signs are
o Bilious vomiting o Jaundice
o Prematurity o Abdominal distension
o Polyhydramnios o Failure to pass meconium
o Low birth weight
• There will also be signs of continuous fluid loss  such as dehydration, poor urine output, tachycardia and
neurological involvement
• Plain abdominal radiograph will show a dilated gas bubble and massively dilated proximal bowel with a gasless
abdomen distal to the obstruction  contrast studies will clearly show the anomaly
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Outline the clinical features and complications of a meckels diverticulum namely abdominal pain mimicking appendicitis,
lower GI bleed, obstruction
• Around 2% of individuals have an ileal remnant of the vitello-intestinal duct  a Meckel diverticulum 
which contains ectopic gastric mucosa or pancreatic tissue
• Most are asymptomatic  but they may present with severe rectal bleeding  which is classically neither
bright red nor true melaena
• Other forms of presentation include
o Intussusception
o Volvulus around a band
o Diverticulitis  which mimics appendicitis
• A technetium scan will demonstrate increased uptake by ectopic gastric mucosa in 70% of cases
• Treatment is by surgical resection
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GENITALIA
Describe the clinical features of inguinal herniae and differences from hydrocele
• Inguinal hernias are almost exclusively seen in boys  normally the inguinoscrotal descent of the testis is
preceded by some peritoneum  this peritoneal extension (processus vaginalis) normally obliterates after
birth, but the failure of this process may lead to the development of an inguinal hernia or hydrocele
• The inguinal hernia in children is almost always indirect  due to this patent processus vaginalis
• There are much more frequent in boys and are particularly common in premature infants  hernias are more
common on the right side  at least 1 in 50 boys will develop one
• They usually present as an intermittent swelling in the groin or scrotum on crying or straining  but unless
observed the diagnosis relies on a history and the palpation of a thickened spermatic cord (or round ligament
in girls)  the groin swelling may become visible on raising the child’s intra-abdominal pressure
• The hernia may also present as an irreducible lump in the groin or scrotum  the lump will be firm and
tender and the infant may be unwell with irritability and vomiting  most ‘irreducible’ hernias can be
reduced after opioid analgesia and sustained gentle compression  if reduction is impossible then there
becomes the risk of strangulation of bowel and damage to the testis
• NB  hernia associated with an undescended testis should be operated on early to minimise risks to the
testis.
• A hydrocele is the same principle as a hernia  but the tract is much smaller and only allows peritoneal fluid
to accumulate  eg. hydroceles can be illuminated, where as herniaes cannot
• Inguinal hernias can also present in girls with the ovaries being incarcerated in the hernia sac  rarely
androgen insensitivity syndrome can present as a hernia in a phenotypic female who actually have a male
genotype
Be aware of the risk of incarceration and consequences ie bowel and testicular compromise, especially in infant with an
inguinal herniae
• If the hernia becomes incarcerated then this can compromise the blood supply to the bowel that is enveloped
as well as the blood supply to the structures below (the testis)  infants are especially at risk of this
• The operation is carried out via an inguinal skin crease incision and involves ligation and division of the hernia
sac  processus vaginalis
Describe the aetiology and causes of acute scrotum including torsion and epididymo-orchitis
TESTICULAR TORSION
• Testicular torsion is most common in adolescents but may occur at any age  including the perinatal period
• The pain is not always centred on the scrotum  but may be in the groin or lower abdomen
• Atypical presentation is not unusual  the testes must always be examined whenever a boy or young man
presents with inguinal or lower abdominal pain of sudden onset  there may be a history of previous self-
limiting episodes
• Torsion of the testes is more correctly torsion of the spermatic cord  it is a surgical emergency and can
cause strangulation of the gonadal blood supply with subsequent testicular necrosis and atrophy  patients
often complain of an acute-onset discomfort which may occur at rest or may relate to sports or physical
activities  they may describe similar episodes which may suggest intermittent torsion  patients deny
voiding problems or painful urination but may describe nausea and vomiting
• The spermatic cord typically twists in the inguinal canal or just below
o An extravaginal torsion (5%) usually manifests in the neonatal period and most commonly develops
prenatally in the spermatic cord, proximal to the attachment of the tunica vaginalis
o An intravaginal torsion (16%) occurs within the tunica vaginalis and usually in older children (13 years
typically)
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• Presentation is typically a firm, hard scrotal mass which does not transilluminate in an otherwise
asymptomatic newborn male  the scrotal skin characteristically fixes to the necrotic gonad  in older boys
the presentation is sudden onset of severe testicular pain followed by inguinal or scrotal swelling  pain may
lessen as necrosis becomes more complete  in some patients scrotal trauma or scrotal disease may precede
the presentation  a physical examination will reveal a swollen and tender, high riding testis  there will be
an absent cremasteric reflex
• Torsion of the testis must be relieved within 6–12 h of the onset of symptoms for there to be a good chance
of testicular viability  surgical exploration is mandatory unless torsion can be excluded  if torsion is
confirmed, fixation of the contralateral testis is essential because there may be an anatomical predisposition
to torsion  for example the ‘bell clapper’ testis – where the testis is not anchored properly
• An undescended testis is at increased risk of torsion and at increased risk of delayed diagnosis  it may also
be confused with an incarcerated hernia
• Expert Doppler ultrasound looking at flow in the testicular blood vessels may allow torsion of the testis to be
differentiated from epididymitis  but should not be used to diagnose torsion as only early surgical
correction may salvage the testis
• If there is any doubt about the cause of a painful scrotum, surgery should be performed.
EPIDIDYMO-ORCHITIS
• Epididymitis means inflammation of the epididymis  whilst orchitis means inflammation of the testis  as
these two structures lie next to each other it is often difficult to tell what is and isn’t inflamed
• Most causes are due to infection:
o Urine infection  bacterial infections (E.coli) can tract down the vas deferens to cause an acute
epididymo-orchitis  this can happen at any age and is the most common cause over 3½  this is
because partial blockage of urine becomes more common with age
o STI  a common cause in young men with chlamydia and gonorrhoeal infection being most
common 
o Mumps  can occur in 1 in 5 cases but is now uncommon due to the MMR vaccination  
o Operation  any operation in this area can cause this  
o Medication  particularly amiodarone
• Symptoms usually develop quickly over a day or so  the affected testis swells rapidly and the scrotum
becomes enlarged, tender, red and very painful
• There may also be other symptoms as a complication of the cause  i.e. pain when passing urine due to
infection, fever, or discharge  
Compile a differential diagnosis of the acute scrotum and understand the need for early exploration if in doubt
TORSION
• Differential diagnosis includes:  
o Epididymitis, orchitis and epididymo-orchitis  discussed in more detail above and below  usually
occur due to an STI or urinary reflux  patients can develop these after excessive straining or lifting
o Testis tumour  rarely acute and rarely painful
o Hydrocele  
o Idiopathic scrotal oedema  thickened and inflamed scrotal skin, the testis is not inflamed and is in
its normal size and position
• Manual detorsion of the testis is needed within 6-8 hours and after 24 hours the testis will be completely
dead  it is often difficult because of acute pain during manipulation  this method is not a substitute for
surgical exploration.
• f successful then perform definitive surgical fixing as an urgent rather than emergency procedure
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EPIDIDYMO-ORCHITIS
• Differentials include similar conditions to above:
o Torsion
o Trauma
o Abscess formation
o Tumour or hydrocele
• Appropriate rest and analgesia are needed and there is less urgency (unless there is suspected torsion) 
NSAIDs may be helpful and the patient should abstain from sex until it has cleared up  an STI check should
also be performed
Outline the natural history of foreskin pathology, conservative management of Balanitis with antibiotics; exclude
conditions like BXO (white scarring) which needs circumcision
• Balanitis is an inflammation of the end of the penis (the glans)  often the foreskin is also inflamed at the
same time as the glans
• This is a common condition that can occur at any age  but more commonly it affects boys under 4 years and
men who are not circumcised  it is very uncommon in circumcised men
• The most common symptoms are redness, irritation and soreness of the end of the penis  it can range from
a small patch to the whole glans becoming red, painful and swollen  sometimes there is a thick clumpy
discharge that comes from under the foreskin  there may also be pain or discomfort when passing urine
• The main causes are:
o Poor hygiene  combined with a tight foreskin this can lead to irritation by smegma (a cheesy-like
substance which forms under the foreskin if the glans is not cleaned)  this is the most common
cause
o Infection (not STI)  candida is a common infection and is more likely if there is alreadyinflammation,
the patient has diabetes or there is phimosis
o STI  less likely in children but should be considered
o Allergy or irritants
o Skin condition
• Pathological phimosis is seen as a whitish scarring of the foreskin and is rare before the age of 5  the
condition is due to localised skin disease known as Balanitis xerotica obliterans (BXO  which also involves
the glans penis and can cause urethral meatal stenosis  symptoms here include burning, pruritus,
hypoesthesia, dysuria, painful erection and these occur over months to years.
• The diagnosis is usually clinical but if the doctor is unsure then a swab may be taken for bacterial culture 
there may be a check for diabetes or there may be referral to a GUM clinic  a biopsy can be taken if
inflammation persists
• The following is recommended regardless of cause  avoid soaps when inflammation is present and use luke
warm water to wash penis and gently dry
• The treatment will depend on the cause of Balanitis but may include:
o Anti-yeast cream of anti yeast tablets
o Antibiotics 
o A mild steroid cream
Understand that most non-retractile foreskins are physiologically normal

• Phimosis (unretractable foreskin) is common in young boys  after the age of 5 years the foreskin will usually
retract easily so the glans can be gently cleaned
• You are more likely to get Balanitis if you have phimosis as sweat, debris and urine may collect under the
foreskin
• A non-retractable foreskin will be present in 50% at 1 year, 10% at 4 years and 1% at 16 years.
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Describe the pathology of a hydrocele
• A patent processus vaginalis  which is sufficiently narrow to prevent the formation of an inguinal hernia 
may still allow peritoneal fluid to track down around the testis to form a hydrocele
• Hydroceles are asymptomatic scrotal swellings, often bilateral, and sometimes with a bluish discoloration 
they may be tense or lax but are non-tender and transilluminate
• Some hydroceles are not evident at birth but present in early childhood after a viral or gastrointestinal illness
• The majority resolve spontaneously as the processus continues to obliterate  but surgery is considered if it
persists beyond 18–24 months of age
• A hydrocele of the cord forms a non-tender mobile swelling in the spermatic cord
Outline the management of a inguinal hernia

• Inguinal hernias in children are almost always indirect  due to a patent processus vaginalis  they are much
more frequent in boys and are particularly common in premature infants  hernias are more common on the
right side  at least 1 in 50 boys will develop an inguinal hernia
• Inguinal hernias usually present as an intermittent swelling in the groin or scrotum on crying or straining 
unless the hernia is observed as an inguinal swelling, diagnosis relies on the history and the identification of
thickening of the spermatic cord (or round ligament in girls)  the groin swelling may become visible on
raising the intra-abdominal pressure by gently pressing on the abdomen or asking the child to cough
• An inguinal hernia in an infant may present as an irreducible lump in the groin or scrotum  the lump is firm
and tender and the infant may be unwell with irritability and vomiting
• Most ‘irreducible’ hernias can be successfully reduced following opioid analgesia and sustained gentle
compression  surgery is delayed for 24–48 hours to allow resolution of oedema
• If reduction is impossible, emergency surgery is required because of the risk of strangulation of bowel and
damage to the testis  ahernia associated with an undescended testis should be operated early to minimise
risks to the testis
• The operation is carried out via an inguinal skin crease incision  involves ligation and division of the hernial
sac (processus vaginalis)  except in small infants, this can usually be undertaken as a day-case procedure,
provided there is appropriate anaesthetic and surgical support
Identify a palpable vs impalpable undescended testicle and know about their management
• At birth, about 4% of full-term male infants will have a unilateral or bilateral undescended testis 
cryptorchidism
• It is more common in preterm infants  because testicular descent through the inguinal canal occurs in the
third trimester
• Testicular descent may continue during early infancy  by 3 months of age the overall rate of cryptorchidism
in boys is 1.5%  with little change thereafter
• Contrary to previous teaching  it is now recognised that occasionally a testis which is fully descended at
birth can ascend to an inguinal position during childhood  accounting for some late-presenting
‘undescended’ or ‘ascended’ testes  this phenomenon may be due to a relative shortening of cord
structures during growth of the child
• Examination should be carried out in a warm room, with warm hands and a relaxed child  the testes can
then be brought down into a palpable position by gently massaging the contents of the inguinal canal towards
the scrotum
CLASSIFICATION
• Retractile
o The testis can be manipulated into the bottom of the scrotum without tension  but subsequently
retracts into the inguinal region  pulled up by the cremasteric muscle
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o The testis has usually been found in the scrotum at a neonatal check  been noted by parents on
bathing their baby
o With age, the testis resides permanently in the scrotum
o Follow-up is advisable as, rarely, the testis subsequently ascends into the inguinal canal
• Palpable
o The testis can be palpated in the groin  but cannot be manipulated into the scrotum
o Occasionally, a testis is ectopic  when it lies outside its normal line of descent  may then be found
in the perineum or femoral triangle
• Impalpable
o No testis can be felt on detailed examination
o The testis may be in the inguinal canal, intra-abdominal or absent.
• Useful investigations include:
o Ultrasound  this has a limited role in identifying testes in the inguinal canal in obese boys  but
cannot reliably distinguish between an intra-abdominal or absent testis  it is performed in children
with bilateral impalpable testes to verify internal pelvic organs
o Hormonal  for bilateral impalpable testes  the presence of testicular tissue can be confirmed by
recording a rise in serum testosterone in response to intramuscular injections of human chorionic
gonadotrophin (HCG)  these boys may require specialist endocrine review
o Laparoscopy  the investigation of choice for the impalpable testis  under anaesthesia, inguinal
examination is first carried out to check that the testis is not in the inguinal canal
Be aware of the risks of operating vs not operating on an undescended testicle and later risks
• Surgical placement of the testis in the scrotum (orchidopexy) is undertaken for several reasons
o Fertility
o Malignancy
o Cosmetic & psychological
• Fertility
o To optimise spermatogenesis  the testis needs to be in the scrotum below body temperature
o The timing of orchidopexy is controversial  but orchidopexy during the second year of life may
optimise reproductive potential
o After 6 months of age descent of testis is unlikely and referral for paediatric surgical review at that
age is recommended
o Fertility after orchidopexy for a unilateral undescended testis is close to normal  in contrast, fertility
is reduced to around 50% after bilateral orchidopexy for palpable undescended testes  men with a
history of bilaterally impalpable testes are usually sterile
• Malignancy
o Undescended testes have histological abnormalities  an increased risk of malignancy
o The risk is greater for bilateral undescended testes  greatest risk is for testes which are intra-
abdominal
o Some studies have suggested that early orchidopexy for a unilateral undescended testis reduces the
risk to nearly the same as a normal testis
o A scrotal testis can also be more easily self-examined than an inguinal or ectopic one
• Cosmetic and psychological  if a testis is absent, a prosthesis can be used but this is best delayed until a
larger adult-sized prosthesis can be inserted
Outline the medical indications and complications of male circumcision

• At birth, the foreskin is adherent to the surface of the glans penis  these adhesions separate spontaneously
with time, allowing the foreskin to become more mobile and eventually retractile
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• At 1 year of age, approximately 50% of boys have a non-retractile foreskin  but by 4 years this has declined
to 10%  and by 16 years to only 1%
• Two conditions that require reassurance are preputial adhesions  both conditions are usually asymptomatic
and resolve spontaneously
o When the foreskin remains partially adherent to the glans
o The presence of white ‘pearls’ under the foreskin due to trapped epithelial squames
• Circumcision is one of the earliest recorded operations  remains an important tradition in the Jewish and
Muslim religions
• Although routine neonatal circumcision is still common in some Western countries such as the USA  the
arguments generally used to justify on medical grounds have been discredited  no national or international
medical association currently advocates routine neonatal circumcision  neonatal circumcision is not without
risk of significant morbidity
INDICATIONS
• There are only a few medical indications for circumcision:
o Phimosis  the inability to retract the foreskin  pathological phimosis is seen as a whitish scarring
of the foreskin and is rare before the age of 5 years  the condition is due to a localised skin disease
known as balanitis xerotica obliterans (BXO)  which also involves the glans penis and can cause
urethral meatal stenosis
o Recurrent balanoposthitis  single attack of redness and inflammation of the foreskin  sometimes
with a purulent discharge  is common and usually responds rapidly to warm baths and a
broad-spectrum antibiotic  recurrent attacks of balanoposthitis are uncommon and circumcision is
occasionally indicated
o Recurrent urinary tract infections  although urinary infection is more common in uncircumcised
boys
• The overall incidence is low and routine circumcision is not justified as a preventative measure  however,
circumcision may be helpful in reducing the risk of urinary tract bacterial colonisation in boys with upper
urinary tract anomalies complicated by recurrent urinary infection  it may also be appropriate in boys with
spina bifida who need to perform clean intermittent urethral catheterisation
• There is some data from countries with a high prevalence of HIV infection that the risk of transmission is
lower in circumcised males.
COMPLICATIONS
• Circumcision for medical indications is performed under a general anaesthetic as a day case  during the
procedure, a long-acting local anaesthetic block can be given to reduce postoperative pain  healing can take
up to 10 days, with discomfort for several days
• Bleeding and infection are well recognised complications  but more serious hazards, such as damage to the
glans, may occur if the procedure is not carried out by appropriately trained personnel  the procedure also
carries the risk of psychological trauma
• Pre-putioplasty can be offered as an effective alternative to circumcision in selected cases  after retraction
of the foreskin, the tight preputial ring is incised longitudinally and then sutured transversely  unlike
circumcision, preputioplasty conserves the foreskin and results in less postoperative discomfort and fewer
complications  however, regular retraction of the foreskin is required in the first few weeks after surgery
and for this reason, preputioplasty is better suited to older boys who are willing to do this
• Application of a topical steroid ointment to the prepuce has been shown to facilitate retraction of a non-
retractile prepuce  with success rates of up to 80%  different treatment regimens have been described
but typically the ointment is applied twice daily for 2–3 months
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Be aware of the clinical features and basic management of labial adhesions
• If the labia minora are adherent in the midline  this may give the appearance of absence of the vagina 
except there is a characteristic translucent midline raphe partially or totally occluding the vaginal opening
• Asymptomatic adhesions can be left alone and will often lyse spontaneously
• If there is perineal soreness or urinary irritation, treatment with topical oestrogen treatment applied sparingly
twice a day for 1–2 weeks often dissolves the adhesions
• Active separation of the adhesions under anaesthesia is sometimes required
List the clinical features and risks of a varicocoele.

• Varicosities of the testicular veins may develop in boys around puberty  they are usually on the left side and
there is an association with subfertility
• Treatment is indicated for symptoms (dragging, aching), impaired testicular growth  in later life, for
infertility
• Obliteration of the testicular veins can be achieved by conventional surgery, laparoscopic techniques or
radiological embolization
• The role of such interventions in asymptomatic boys is uncertain
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PYLORIC STENOSIS
Describe the clinical features and epidemiology
• In pyloric stenosis  there is hypertrophy of the pyloric muscle causing gastric outlet obstruction
• It presents at between 2 and 7 weeks of age  irrespective of gestational age
• It is more common in boys (4 : 1)  particularly first-borns  there may be a family history, especially on the
maternal side
• Clinical features are:
o Vomiting  which increases in frequency and forcefulness over time, ultimately becoming projectile
o Hunger after vomiting  until dehydration leads to loss of interest in feeding
o Weight loss  if presentation is delayed
o A hypochloraemic metabolic alkalosis with a low plasma sodium and potassium occurs  as a result
of vomiting stomach contents
Understand the diagnostic investigations and treatment

INVESTIGATIONS
• Unless immediate fluid resuscitation is required  a test feed is performed
• The baby is given a milk feed  which will calm the hungry infant  allowing examination
• Gastric peristalsis may be seen as a wave moving from left to right across the abdomen
• The pyloric mass  which feels like an olive  is usually palpable in the right upper quadrant
• If the stomach is overdistended with air  it will need to be emptied by a nasogastric tube to allow palpation
• Ultrasound examination is helpful if the diagnosis is in doubt
MANAGEMENT
• The initial priority is to correct any fluid and electrolyte disturbance with intravenous fluids  0.45% saline
and 5% dextrose with potassium supplements
• Once hydration and acid–base and electrolytes are normal  definitive treatment by pyloromyotomy can be
performed  this involves division of the hypertrophied muscle down to, but not including, the mucosa
• The operation can be performed either as an open procedure via a periumbilical incision or laparoscopically
 post-operatively, the child can usually be fed within 6 h and discharged within 2 days of surgery
Describe the fluid and electrolyte imbalance, why this occurs and fluid resuscitation
• Hypochloraemic, hypokalaemic metabolic alkalosis is the classic acid-base and electrolyte imbalance seen in
pyloric stenosis
• Persistent vomiting causes the progressive loss of fluids rich in hydrochloric acid  which causes the kidneys
to retain hydrogen ions in favour of potassium
• Electrolyte abnormalities will depend on the duration of symptoms  the dehydration may result in hyper or
hyponatraemia  may result in prerenal renal failure
• Treatment is with 0.45% saline and 5% dextrose with potassium supplements  an initial 20ml/kg bolus
should be given followed by 2-3 times their normal maintenance volumes  regular reassessment is needed
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LYMPHADENOPATHY
List the differential diagnosis and initial investigations for cervical lymphadenopathy including biopsy for large nodes.
• Cervical lymphadenopathy is a common problem in children  the condition most commonly represents a
transient response to a benign local or generalised infection  but occasionally it might herald the presence
of a more serious disorder
• Acute bilateral cervical lymphadenopathy is usually caused by a viral URTI or streptococcal pharyngitis
• Acute unilateral cervical lymphadenitis is caused by streptococcal or staphylococcal infection in 40-80% of
cases
• The most common causes of sub-acute or chronic lymphadenitis are cat scratch disease, mycobacterial
infection and toxoplasmosis
• Supraclavicular or posterior cervical lymphadenopathy carries a much higher risk of malignancies than does
anterior cervical lymphadenopathy
• 25% of all malignancies in children occur in the head and neck. During the first 6 years of life, neuroblastoma
and leukaemia are the most common tumours associated with cervical lymphadenopathy, followed by
rhabdomyosarcoma and non-Hodgkin’s lymphoma. After 6 years the Hodgkin’s lymphoma is the most
common tumour.
DIFFERENTIAL DIAGNOSIS
• Mumps  the swelling crosses the angle of the jaw  
• Thyroglossal cyst  moves up on swallowing or with tongue protrusion  
• Brachial cleft cyst  a smooth and fluctuant mass located along the lower anterior border of the
sternomastoid muscle  
• Sternomastoid tumour  hard, spindle shaped mass in the muscle resulting from perinatal haemorrhage of
the muscle with subsequent healing by fibrosis  can be moved horizontally but not vertically  
• Cervical ribs  orthopaedic anomalies that are usually bilateral, hard and immovable  
• Cystic hygroma  a multiloculated, endothelial lined cyst that is diffuse, soft and compressible  contains
lymphatic fluid and typically transilluminates  
• Haemangioma  a congenital vascular anomaly that often is present at birth or appears shortly thereafter 
the mass is usually red or bluish  
• Laryngocele  a soft, cystic, compressible mass that extends out of the larynx and through the thyrohyoid
membrane and becomes larger with the valsalva manoeuvre  there may be associated stridor or
hoarseness
• Dermoid cyst  a midline cyst that contains solid and cystic components
INVESTIGATIONS
• Tests are rarely necessary  but include a
o FBC to screen  infection or leukaemia
o ESR to check  infection
o ASA titre
o Throat culture
o Mantoux test
o Chest radiology
o Serological tests  EBV, CMV and toxoplasmosis
• An electrocardiogram and echocardiogram are indicated if Kawasaki disease is suspected  autoimmune
disease of blood vessels
• Ultrasound & CT might help to differentiate a solid from cystic mass and to establish the presence and extent
of suppuration or infiltration
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• FNA & culture is a safe procedure to determine the causative organism and appropriate antibiotic
• Excisional biopsy and microscopic examination may be necessary if there are signs or symptoms of malignancy
List the common causes, investigations and diagnosis (including biopsy) for suppuartive adenitis or lymphadenitis.
• Lymphadenitis  the inflammation and/or enlargement of lymph nodes  is common in children
• Most cases present in response to benign, local or generalised infections  may be a single node or a cluster
• The onset can be acute, sub-acute or chronic and there are a wide range of causes  most children with this
will exhibit small palpable cervical, axillary and inguinal nodes
• The history is generally the following:
o URTI with sore throat, earache, coryza conjunctivitis or impetigo  
o Fever, irritability and anorexia  
o Contact with animals, especially kittens
• Dental care is important and dental abscesses can cause lymphadenitis  acute bilateral cervical adenitis can
be due to viral pharyngitis or mononucleosis  a history of travel is also important for obvious reasons
• Causes are generally infection but can include autoimmune disorders  the following are potential causes:
o Staph, strep and viruses   o Toxoplasmosis  
o TB   o Juvenile rheumatoid arthritis  
o Cellulitis   o Serum sickness  
o Salmonella   o Leukaemia  
o HBV   o Hodgkin lymphoma (or non-Hodgkin’s)
o CMV   o HIV
INVESTIGATIONS & TREATMENT
• Since there are many different causes it is important to tailor the investigations to the clinical findings in
addition to the lymphadenitis
• Investigations may include
o Gram stain o ESR
o Culture of aspirate o LFTs
o Serology o Skin tests
o WBC count
• Ultrasound and a chest radiograph may also be useful  biopsy, either FNA, excisional or partial, may be
done
• Treatment  xompletely dependent on the cause but may be antimicrobial, chemotherapy or radiotherapy.  
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CONGENITAL MALFORMATIONS
Recognise the clinical features, and know the common associations with other conditions of cleft lip and palate
• A cleft lip affects 1 in 700 children and may be unilateral or bilateral  it results from failure of fusion of the
frontonasal and maxillary processes  in bilateral cases the premaxilla is anteverted  it can be incomplete
or complete (connection to the nostril or not)
• Cleft palate results from failure of fusion of the palatine processes and the nasal septum
• Cleft lip and palate affect about 0.8 per 1000 babies  most are inherited polygenically, but they may be part
of a syndrome of multiple abnormalities, e.g. chromosomal disorders  some are associated with maternal
anticonvulsant therapy
• The cleft often includes the soft palate and here cleft lip is often present too  again it can be complete (soft
and hard palate) or incomplete (soft palate)  this hole connects the mouth directly to the nasal cavity
• Generally approximately half of all affected babies have cleft palate, a quarter have cleft lip and a quarter
have both  the combination is more common in boys and cleft palate is more common in girls.
• Common problems and presenting clinical features are:
o Feeding problems  inadequate suck
o Ear infections and hearing impairment
o Speech and language problems  repaired before speech starts to develop
o Dental health  change in structure
o Psychological issues
• Associated conditions/drugs include
o Anticonvulsant therapy
o Isotretinoin
o Patau syndrome
o Other chromosomal disorders
• Smoking, alcohol, obesity, lack of folate and hypertension in the mother, have all been linked to this defect
• Pierre Robin syndrome is linked and is a rare condition where the baby is born with an abnormally small lower
jaw that causes their tongue to fall backwards in their throat, causing breathing difficulties
Be aware of the long term problems and feeding issues associated with cleft lip and palate
• Surgical repair of the lip may be performed within the first week of life for cosmetic reasons  although some
surgeons feel that better results are obtained if surgery is delayed  the palate is usually repaired at several
months of age
• A cleft palate may make feeding more difficult  but some affected infants can still be breast-fed successfully
 in bottle-fed babies, if milk is observed to enter the nose and cause coughing and choking  special teats
and feeding devices may be helpful  orthodontic advice and a dental prosthesis may help with feeding
• Secretory otitis media is relatively common and should be sought on follow-up  infants are also prone to
acute otitis media
• Adenoidectomy is best avoided  as the resultant gap between the abnormal palate and nasopharynx will
exacerbate feeding problems and the nasal quality of speech
• A multidisciplinary team approach is required, involving plastic and ENT surgeons, paediatrician, orthodontist,
audiologist and speech therapist  arent support groups can provide valuable support and advice for families
(Cleft Lip and Palate Association, CLAPA)
Be aware of this congenital diaphragmatic hernia and the basic embryology

• A congenital diaphragmatic hernia is one of the more common malformations in the newborn (1 per 2000) 
most frequently caused by failure of one or both of the pleuroperitoneal membranes to close the
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pericardioperitoneal canals  iIn that case, the peritoneal and pleural cavities are continuous with one
another along the posterior body wall  this hernia allows abdominal viscera to enter the pleural cavity
• In 85 to 90% of cases the hernia is on the left side  intestinal loops, stomach, spleen and part of the liver
enter the thoracic cavity  the abdominal viscera in the chest push the heart anteriorly and compress the
lungs, which are commonly hypoplastic
• A large defect is associated with a high rate of mortality (75%) from pulmonary hypoplasia and dysfunction.
• Occasionally a small part of the muscular fibres of the diaphragm fails to develop and a hernia may remain
undiscovered until the child is several years old  such a defect, frequently seen in the anterior portion of the
diaphragm, is a parasternal hernia
• Another type of diaphragmatic hernia is an oesophageal hernia  thought to be due to oesophageal
shortness
• Most cases are now diagnosed prenatally on ultrasound following the discovery of polyhydramnios in the
mother
• Depending on the severity the signs will often be:
o Cyanosis shortly after birth  
o Tachypnoea  
o Tachycardia  
o Asymmetry of the chest wall  
o Absent breath sounds on one side of the chest (usually the left)  
o Bowel sounds audible over the chest wall  
o The abdomen feels ‘less full’ on palpation  
o A shift of cardiac sounds  
o Signs of pneumothorax  
Understand the basic management of diaphragmatic hernia with ventilation and drugs to stabilise patient followed by
surgical repair
• Initial management consists of sedation, paralysis, endotracheal intubation and mechanical ventilation with
100% O2 therapy  NGT placement and avoiding bag-valve-mask ventilation
• If oxygenation is good and pulmonary hypoplasia is not severe  repair of the diaphragmatic defect is
undertaken after a few days either by primary suture or insertionof a prosthetic patch
• Severely affected infants have chronic lung disease  these children may require prolonged therapy of
supplemental oxygen and diuretics
• These children may also require ventilation whilst their lungs recover
• Fluids are restricted to 40ml/kg for the first 24 hours, with an extra 10ml/kg being added until the 7th day 
NG or IV feeding should also be started
• Intermediate mandatory ventilation is used to wean the child off ventilation and can take up to 6 weeks.
Describe presentation, the different types and basic management of trachea-oesophageal fistula with or without atresia
TRACHEA-OESOPHAGEAL FISTULA
• TOF is usually associated with oesophageal atresia  however, an isolated TOF will present with
o Choking or coughing during feeding
o Abdominal distension
o Recurrent LRTI
• Although symptoms are present from birth the diagnosis is frequently not made until later in childhood  the
investigations of choice are a tube injection of X-ray contrast into the oesophagus and bronchoscopy 
treatment is surgical division of the TOF through a neck incision
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TRACHEA-OESOPHAGEAL FISTULA & OESOPHAGEAL ATRESIA
• The incidence of OA and TOF is 1/3500 live births  75% babies with OA will have a TOF  10% will have
isolated OA, which is usually associated with a long gap or defect.  
• It is rare to have an isolated TOF or OA with both upper and lower pouch TOFs
• Maternal polyhydramnios is common, although antenatal diagnosis is rare  babies present at birth with:  
o Excess mucus or ‘mucousy’ 
o Choking and cyanosis on feeding 
o Associated malformations in 50%  usually the VACTERL association  
ACUTE MANAGEMENT  
• The baby should be kept warm and disturbed as little as possible  standard IV fluids started
• The upper oesophageal pouch should be aspirated regularly by oropharyngeal suction or a Replogle tube  
• Pre-operative antibiotics are not required unless there is evidence of aspiration pneumonia
• Babies who require mechanical ventilation must be referred urgently for surgery because gas will escape
down the TOF and produce progressive gastric distension  which impairs ventilation further, ultimately
leading to gastric perforation
SURGERY
• Disconnection of the TOF and anastomosis of upper and lower oesophagus through a right thoracotomy 
• Long gap OA may require a feeding gastrostomy and a cervical oesophagostomy in the neonatal period 
followed by oesophageal replacement during infancy  some specialist centres now perform the Foker
operation, where prolonged internal ‘stretch’ makes the remnant of the upper and lower oesophagus ‘grow’ 
• High-risk babies may have a staged procedure  the TOF is ligated and then the OA repaired a few days later
• Complications include
o Anastomotic leak o Gastro- oesophageal
o Anastomotic stricture o Recurrent fistula
FOLLOW-UP
• Respiratory morbidity in the early years after OA/TOF repair is relatively high, particularly in the winter
months  consider admitting these children during respiratory infections
• Obstruction of the oesophagus by food boluses is common in toddlers and young children after OA repair 
usually, it is caused by meat that has not been chewed  refer for urgent oesophagoscopy 
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List the clinical features of gastroschisis and exomphalos (associated anomalies with latter)
GASTROSCHISIS
• In gastroschisis  the bowel protrudes through a defect in the anterior abdominal wall, adjacent to the
umbilicus, and there is no covering sac  it is not associated with other congenital abnormalities
• Gastroschisis carries a much greater risk of dehydration and protein loss  so the abdomen of affected
infants should be wrapped in several layers of clingfilm to minimise fluid and heat loss
• A nasogastric tube is passed and aspirated frequently  an intravenous infusion of dextrose established 
colloid support is often required to replace protein loss
• Many lesions can be repaired by primary closure of the abdomen  with large lesions, the intestine is
enclosed in a silastic sac sutured to the edges of the abdominal wall and the contents gradually returned into
the peritoneal cavity
• The incidence of gastroschisis is 1/3000 live births, but it is increasing  most foetuses with gastroschisis are
identified on prenatal US and delivery can then be arranged in a regional neonatal surgical centre
• The abnormality is immediately apparent at birth as a defect in the abdominal wall to the right of the
umbilicus  the bowel is eviscerated and not covered by a sac  as a result of contact with amniotic fluid the
bowel is thickened and matted  associated malformations are uncommon except intestinal atresias (10%)
• Management
o Immediate: cover the exposed bowel with ClingfilmTM.  
o Keep the baby warm and hydrated.  
o AXR is unnecessary.  
• Surgery  the defect requires surgical closure as rapidly as possible  often this has to be staged using a silo
because the abdomen is too small to accommodate the intestine  the silo is reduced serially over a period
of 1–2wks and then closure of the defect is performed
• Nutrition  total parenteral nutrition may be required for many weeks because intestinal function is slow to
resume after the abdominal wall is closed  however, the long-term outcome is excellent 
EXOMPHALOS
• In exomphalos (also called omphalocele)  the abdominal contents protrude through the umbilical ring 
covered with a transparent sac formed by the amniotic membrane and peritoneum  it is often associated
with other major congenital abnormalities
• The incidence of exomphalos is 1/3000 live births  it is usually identified on prenatal US
• It is characterized by:
o Hernia into the base of the umbilical cord  the herniated bowel is covered by a sac (amnion) 
o Exomphalos major  defect >5cm diameter
o Exomphalos minor  defect <5cm diameter
• Malformations in association with exomphalos are found in 50% of cases:
o Chromosomal defects  trisomies 18, 13, 21 and Turner’s syndrome
o Cardiac defects
o Syndromes  BWS  
• Surgical treatment
o Closure of the defect in one or more stages
o The prognosis depends on associated malformations 
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Be aware of the common umbilical abnormalities - patent vitello-intestinal duct/urachus, umbilical granuloma, bladder
exstrophy
URACHUS
• Urachus is where a fibrous remnant of the allantois is persistent  this is normally a canal that joins the
urinary bladder of the fetus with the umbilical cord
• This will lead to leakage of urine from the umbilicus and needs surgical removal
• There are four anatomical cases:
o Urachal cyst – no connection between umbilicus and bladder  
o Urachal fistula – a free connection between them  
o Urachal diverticulum – bladder out pouching  
o Urachal sinus – pouch opens towards umbilicus  
PATENT VITELLO-INTESTINAL DUCT

• Patent vitello-intestinal duct  is similar to a urachus, but is where the vitello intestinal duct does not close
 leads to a discharge of enteric contents from the umbilicus in the first few days of life
UMBILICAL GRANULOMA
• Umbilical granuloma is where the inflammatory process at the umbilicus becomes florid with excess
granulation tissue  preventing the raw area from developing new epithelial cells
• The interruption of this normal process is usually due to infection  will usually respond to silver nitrate
cauterisation
BLADDER EXSTROPHY
• Bladder exstrophy is a congenital abnormality in which part of the urinary bladder is present outside the body
• It is rare with a male to female ratio of 2:1  10,000 to 50,000 live births
• It is due to a failure of the abdominal wall to close during development and leads to the anterior bladder
protruding
• Treatment here is surgical correction.
Be aware of the classification of anorectal malformations: high and low anomalies and the associations
• Anorectal malformations are birth defects where the anus and rectum do not develop properly  with an
anorectal malformation several abnormalities can occur including the following:
o A membrane may be present over the anal opening  
o The rectum may not be connected to the anus (imperforate anus)  
o The rectum may be connected to part of the urinary tract or the  reproductive system through a
fistula.  
o Anal stenosis  
o The rectum may be connected to another part of the skin
• Malformations like this occur in 1 per 4000-5000 births  slightly more common in boys
• The defects can be classified into
o Low defects  close to the skin
o High defects  far away from skin
• There are many associations with these conditions  cardiovascular malformations occur in 12-22%  the
most common being TOF and VSD
• Many GI malformations are also associated including
o Tracheo-oesophageal anomalies o Malrotation
o Duodenal atresia o Hirschsprung disease
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• Sacral/spinal problems are associated especially with high anomalities  vaginal and uterine problems are
common
Outline the surgical management

• If feeds have been started  then they should be stopped and an NG tube passed to empty the stomach
• Fluids will be given via a peripheral cannula  an x-ray will be taken to identify where and what the anomaly
is  all babies will be given a small dose of antibiotics initially  these will need to be continued for several
months 
• Low anomalities are treated with an anoplasty  this is where the anus is exposed under the skin  this will
need serial dilators passing through the new hole regularly to prevent initial stenosis
• High anomalities will require a temporary colostomy initially  several weeks after this operation, when the
child is feeding again, the bowel will be imaged to assess its anatomy  then an appropriate operation will
occur to form a new anus
Compile a differential diagnosis for a congenital neck cyst based on anatomical location.
• Most of these differentials are included in the cervical lymphadenopathy section  they include:
o Thyroglossal duct cyst  a remnant of the developing thyroid gland and tongue  if the duct
remains then there will be a midline mass that moves up on swallowing or on protrusion of the
tongue  the entire tract needs to be completely removed to stop occurance  
o Branchial cleft cyst  congenital lesions that arise from remnants of a slight cleft or defect during
gestation  they are usually found on the side of the necks of children aged 2-10 and can change in
size and shape  they are often noted after URTI  they may have external openings from which
mucus drains out
o Dermoid cyst  slow growing, benign tumours which may occur in the midline of the neck  they
are usually firm lumps attached to the overlying skin
o Enlarged lymph nodes  most commonly found lumps or swellings in children they can be caused
by bacterial or viral infections, malignancies or other rarer causes
• Other enlargements include the salivary glands, sebaceous cysts and thyroid gland swellings
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HEAD INJURY/ACQUIRED BRAIN INJURY

Outline the evaluation of a child with minor head injury including GCS
• Minor head injuries in childhood are common  the vast majority of children recover without suffering any ill
effects  however, about 1 in 800 of these children develop serious problems
• The aim of the management of head injuries is to identify those children requiring treatment and to avoid
secondary damage to the brain from hypoxia or poor cerebral perfusion
• Head injury may result in
o Concussion
o A reversible impairment of consciousness
o Asubdural or extradural haematoma
o Intracerebral contusion
• In infants, as their skull sutures have not fused, cranial volume may increase from an extradural or subdural
bleed before neurological signs or symptoms develop. The haemoglobin concentration may fall and they may
become shocked
• Accidental head injury management
o Mild  discharge home with written advice
o Potentially severe  monitor to avoid secondary damage
o Severe  resuscitate, CT scan and neurosurgical referral
o
• Initially the patient will need assessing for the mode of injury and if there is any need for resuscitation  a
primary survey of ABCDE should be conducted along with GCS  max = motor 6, verbal 5, eyes 4)
• If the GCS in normal check they are haemodynamically stable  perform a neurological assessment and check
for any other injuries  if there are no focal neurological signs then send home with written advice
• If there is a potentially serious head injury after assessing ABC then the following should be true:
o Witnessed loss of consciousness >5 minutes  
o Amnesia > 5 minutes  
o 3 or more episodes of vomiting  
o Clinical suspicion of NAI  
o Post-traumatic seizure without history of epilepsy  
o GCS <15 (<14 if under 1)  
o Suspicion of open/depressed skull injury  
o Sign of skull base fracture  CSF leak, purple around eyes or ear drum  
o Dangerous mechanism  high speed traffic, fall>3m etc
• If the above is the case then an immediate CT head scan is needed and the cervical spine should also be
imaged
• Along with the results there should also be consideration of a persisting coma, decrease in GCS, seizures
without full recovery and focal neurological signs  if there is evidence of secondary damage, a penetrating
injury or CSF leak then immediate neurosurgical referral is needed  
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List the indications for admission and imaging

• Imaging is required if there is a potentially serious head injury  this is determined on clinical signs as well as
the above bullet points
• A child may be admitted for observation if it is felt the parent cannot give the necessary support  but
generally mild injuries will be discharged
• A child will need admitting if they are shown, or it is suspected that they have a serious head injury
Be aware of other injuries that can occur together

• Primary damage  cerebral contusions or lacerations, dural tears and diffuse axonal damage
• Secondary damage  hypoxia from airway obstruction or inadequate ventilation, hypoglycaemia and
hyperglycaemia, reduced cerebral perfusion due to hypotension or raised ICP, haematoma (extradural,
subdural or intracranial) and infection from an open would or CSF leak. Cervical spine injuries also need to be
assessed as a matter of urgency as moving a fractured spine can cause paralysis.
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SOLID TUMOURS
Formulate a differential diagnosis
• The word tumour does not directly imply cancer  some tumours are benign but in discussing malignant
tumours the word ‘solid’ is used to distinguish between a localised mass of tissue and leukaemia
• Different types of tumour are named for the type of cells of which they are composed:
o Sarcomas  cancers arising from the connective tissue such as bone or muscle  
o Carcinomas  arising from the body’s glandular cells and epithelial cells which line body tissues  
o Lymphomas  cancers of the lymph organs such as the lymph nodes, spleen and thymus.  
Have a basic understanding of Wilm’s tumour, neuroblastoma and sacrococcygeal teratoma

WILM’S TUMOUR
• Wilms tumour originates from embryonal renal tissue  is the commonest renal tumour of childhood  over
80% of patients present before 5 years of age  very rarely seen after 10 years of age
• Most children present with a large abdominal mass  often found incidentally in an otherwise well child
• Ultrasound and/or CT/MRI is usually characteristic  showing an intrinsic renal mass distorting the normal
structure  staging is to assess for distant metastases (usually in the lung), initial tumour resectability and
function of the contralateral kidney
• In the UK, children receive initial chemotherapy followed by delayed nephrectomy  after which the tumour
is staged histologically and subsequent treatment is planned according to the surgical and pathological
findings  radiotherapy is restricted to those with more advanced disease
• Prognosis is good, with more than 80% of all patients cured  cure rate for patients with metastatic disease
at presentation (∼15%) is over 60%, but relapse carries a poor prognosis
NEUROBLASTOMA
• Neuroblastoma and related tumours arise from neural crest tissue in the adrenal medulla and sympathetic
nervous system  it is a biologically unusual tumour in that spontaneous regression sometimes occurs in very
young infants
• There is a spectrum of disease from the benign (ganglioneuroma) to the highly malignant (neuroblastoma) 
neuroblastoma is most common before the age of 5 years
• At presentation, most children have an abdominal mass  but the primary tumour can lie anywhere along
the sympathetic chain from the neck to the pelvis
• Classically, the abdominal primary is of adrenal origin  but at presentation the tumour mass is often large
and complex, crossing the midline and enveloping major blood vessels and lymph nodes  paravertebral
tumours may invade through the adjacent intervertebral foramen and cause spinal cord compression
• Over the age of 2 years, clinical symptoms are mostly from metastatic disease  particularly bone pain, bone
marrow suppression causing weight loss and malaise
• Characteristic clinical and radiological features with raised urinary catecholamine levels suggest
neuroblastoma  confirmatory biopsy is usually obtained and evidence of metastatic disease detected with
bone marrow sampling, MIBG (metaiodobenzyl-guanidine) scan with or without a bone scan
• Age and stage of disease at diagnosis are the major factors which influence prognosis  unfortunately, the
majority of children over 1 year present with advanced disease and have a poor prognosis
• Increasingly, information about the biological characteristics of neuroblastoma is being used to guide therapy
and prognosis  overexpression of the N-myc oncogene, evidence of deletion of material on chromosome 1
(del 1p) and gain of genetic material on chromosome 17q in tumour cells are all associated with a poorer
prognosis
• Localised primaries without metastatic disease can often be cured with surgery alone
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• Metastatic disease is treated with chemotherapy, including high-dose therapy with autologous stem cell
rescue, surgery and radiotherapy  risk of relapse is high and the prospect of cure for children with
metastatic disease is still little better than 30%  immunotherapy and the use of long-term ‘maintenance’
treatment with differentiating agents (retinoic acid) are now establishing a role in those with high-risk disease
SACROCOCCYGEAL TERATOMA
• Sacrococcygeal teratoma is a teratoma located at the base of the coccyx  thought to be derived from the
primitive streak and is benign
• It is seen in 1 in 35,000 live births  occurs more commonly in girls (3:1)
• It is the most common tumour in newborns  may present on antenatal scanning or as a palpable lump and
may be mistaken for spinal bifida
• The treatment is complete surgical removal
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Genetics & Syndromes CP2 Learning Objectives Child Health
GENETICS & SYNDROMES

SYNDROMES
Understand the cytogenetics and obstetric risk factors for down syndrome
• Incidence is 1 in 600-700 live births  this incidence increases with increasing maternal age
• 95% of babies with Down syndrome have trisomy 21  usually due to non-disjunction during maternal
oogenesis
• Other chromosome abnormalities leading to Down syndrome
o 2% are the result of a Robertsonian translocation  extra chromosome 21 is added onto another
chromosome
o 2% are mosaic, with a normal cell line as well as the trisomy 21 cell line
• Meiotic non-disjunction  most cases result from an error at meiosis when the pair of chromosome 21s fail
to separate, so that one gamete has two chromosome 21s and one has none
• In translocation Down syndrome  the risk of recurrent is 10-15% if the mother is translocation carrier and
2.5% if the father is carrier
• In mosacisim  some cells are normal and some have trisomy 21  usually arises from formation of the
chromosomally normal zygote by non-disjunction at mitosis, but can arise by later mitotic non-disjunction in a
trisomy 21 conception
• All pregnant women are now offered screening tests measuring biochemical markers in blood samples and
often used nuchal thickening on US to identify increased risk of Down syndrome in foetus  when this
increased risk is identified, then amniocentisis is offered to check foetal karyoptype
• After having one child with trisomy 21 due to non-disjunction  the risk of recurrence is given as 1 in 200 for
mothers under 35 yrs, but remains similar to their age-related population risk for those over the age of 35 yrs
Maternal age (years) Risk of Down syndrome

All ages 1 in 650
20 1 in 1530
30 1 in 900
35 1 in 385
37 1 in 240
40 1 in 110
44 1 in 37
List the clinical features and associated problems of down syndrome

• Usually presents at birth
• Generalised hypotonia and marked head lag
• Facial features
o Small low-set ears o Protruding tongue
o Up-slanting eyes o Brushfield’s spots apparent in the iris
o Prominent epicanthic folds  whitish spots
o A flat facial profile
• Flat occiput (brachycephaly) and short neck
• Typical limb features
o Short broad hands  brachydactyly
o Short incurved little fingers  clinodactyly
o Single transverse palmar crease
o Wide ‘sandle’ gap between the 1st & 2nd toes
• Mildly short stature
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• Intellectual impairment become apparent  IQ scores range from 25 to 70
• Social skills often exceed other intellectual skills
ASSOCIATED CONDITIONS
• 40-50% have congenital heart disease  mostly AVSD, but also ASD, VSD & Tetraology of Fallot
• GI problems
o Duodenal atresia
o Anal atresia
o HSD
• Increased risk of infection
• Developmental hip dysplasia
• Eczema
• Deafness  both sensorineural and conductive
• Cataracts
• Leukaemia (1%)
• Acquired hypothyroidism
Outline the diagnostic investigations for down syndrome

• If there is clinical suspicion of Down syndrome  a senior paediatrician will discuss their concerns with the
parents
• Diagnosis is confirmed by a chromosome analysis showing an additional chromosome 21  most cytogenetic
laboratories are able to offer a rapid analysis in order to establish the diagnosis quickly (1-2 days)  eg.
interphase FISH – fluorescence in situ hybridization
Outline the long term problems associated with down syndrome and the multi-disciplinary nature of care
LONG-TERM PROBLEMS
• Delayed motor milestones • Increased risk of leukaemia and solid tumours
• Moderate to severe learning difficulties • Risk of atlanto-axial instability
• Small stature • Increased risk of hypothyroidism and coeliac
• Increased susceptibility to infections disease
• Hearing impairment from secretory otitis • Epilepsy
media • Alzheimer’s disease
• Visual impairment from cataracts, squints,
myopia
MANAGEMENT
• Refer for a detailed cardiac assessment, hip US and audiology
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• Genetic counselling by a clinical geneticist should be offered  it is not necessary to undertake parental
chromosome analysis if the cause if non-disjunctional trisomy 21 or mosaic trisomy 21  but this is very
important if the karyotype shows a translocation
• Putting parents in contact with a support organization  such as Down Association
• Long-term follow up should ideally be by a MDT  lead by a paediatrician with special expertise and including
a physiotherapist to improve tone and posture
• Routinely test TFT annually
• Refer for audiology and ophthalmic assessment 1-2 yearly
• Almost all children with Down syndrome are now educated in mainstream schools with appropriate
educational support
PROGNOSIS
• If death from congenital cardiac disease is excluded  life expectancy is well into adult life, but most develop
Alzheimer’s by 40yrs
• Majority of adults can live semi-independently with supervision
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Understand the cytogenetics of turner syndrome
• Affects 1 in 2500 females  most girls have a single X chromosome (45, X)  usually due to non-disjunction
• In 50% of girls with Turner’s  there are 45 chromosomes with only one X chromosome  the other cases
have a deletion of the short arm of one X chromosome, an isochromosome that has two long arms, but no
short arm
• The presence of a Y chromosome may increase the risk of gonadoblastoma
• The incidence does not increase with maternal age  risk of recurrence is very low
List the clinical features and associated problems of turner syndrome

• Short stature  typical growth rate beings to falter from 3-5yrs due to underlying skeletal dysplasia  mean
final height is consistently 20cm below the norm
• Broad neck
• Ptosis
• Wide carrying angle of elbows  cubitas vulgas
• Widely spaced hypoplastic nipples
• Low posterior hairline
• Excessive pigmented naevi
• Spoon-shaped nails
• Recurrent otitis media
• Puffiness of hands & feet as a neonate
• Normal intellectual function in most
Outline the diagnostic investigations for turner syndrome

• 95% of Turner syndrome results in early miscarriage  increasingly detected by US antenatally when foetal
oedema of neck, hands & feet or a cystic hygroma may be identified
• The phenotype can be very subtle and is easily missed, particularly if there is a mosaicism in the karyotype 
so a chromosome analysis is usually offered to all girls with unexplained short stature  karyotype confirms
the diagnosis
• Diagnosis overview
o Pregnancy  heart or kidney abnormalities or foetal oedema on US
o Birth  oedema of hands & feet of neonate
o Young children  short stature
o Older children  not achieving puberty
Outline the long term problems and management options for turner syndrome
• Associated abnormalities
o Congenital heart disease  15-50%  especially coarctation of the aorta and VSD
o Structural renal anomalies (30%)  eg. horseshoe kidney or unilateral renal agenesis
o Hypoplastic ‘streak’ ovaries  1o amenorrhoea & infertility  ovarian dygenesis and consequent
gonadal failure results in loss of pubertal growth spurt
• Treatment with daily SC injections of high dose recombinant human growth hormone  increases final
height, althougth individual response is variable
• Oral oestrogen (ethinylestradiol) is required to induce puberty between 12-14yrs
• Combination therapy (anabolic steroids & oxandrolone)  may further improve final height
• Summary of treatment
o Growth hormone therapy
o Oestrogen replacement for development of 2o sexual characteristics at the time of puberty
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Understand the importance of genetic counselling in paediatrics
• The main aims of genetic counselling are supportive & educational  aims to support and provide
information for individuals, couples and families
o To understand their situation
o To make their own decisions about managing the disease or risk of disease  including decision
about genetic testing and reproduction
o To adjust to their situation of being affected by or at risk of the genetic condition
• A primary goal of genetic counselling is to provide information to allow for greater autonomy and choice in
reproductive decisions and other areas of personal life  avoiding additional cases of genetic disease in a
family may be a consequence of genetic counselling, but is not the primary aim
• The elements of counselling include
o Listening to the questions and concerns of the patient, client & family
o Establishing the correct diagnosis  in some cases the diagnosis may remain unknown
o Risk estimation  required diagnostic & pedigree information for 3 generations  it may not be
possible to define a precise recurrence risk
o Communication  information must be presented in an understandable and unbiased way
o Discussing options for management prevention  if there appears to be a risk to offspring, all
reproductive options should be discussed
• Counselling should be non-directive, but should also assist in the decision-making process  information
from lay support groups may also be helpful
• Influences on decisions regarding options for genetic counselling
o Magnitude of risk
o Perceived severity of disorder
o Availability of treatment
o Person’s experience of the disorder
o Family size
o Availability of a safe & reliable prenatal diagnostic test
o Parental cultural, religious or ethical values
Describe some common dysmorphic features associated with syndromes

• The term ‘dysmorphology’ means ‘the study of abnormal form’  refers to the assessment of birth defects
and unusual physical features that have their origin during embryogenesis
• Pathogenic mechanisms
o Malformation  a primary structural defect occurring during the development of a tissue or organ 
eg. spina bifida, cleft lip & palate
o Deformation  an abnormal intrauterine mechanical force that distorts a normally formed structure
 eg. joint contractures
o Disruption  destruction of a foetal part which initially formed normally  eg. amniotic membrane
rupture may lead to amniotic band causing limb reduction defects
o Dysplasia  abnormal cellular organization or function of specific tissue  eg. skeletal dysplasia
• Clinical classification of birth defects
o Single system defects  include single congenital malformations, which are often multifactorial in
nature with fairly low recurrence rates  eg. spina bifida
o Sequence  a pattern of multiple abnormalities occurring after one initiating defect  Potter
syndrome is an example of a sequence in which all abnormailiteis may be traced to one original
malformation – renal agenesis
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o Association  a group of malformations that occur together more often than expected by chance,
but in different combinations from case to case
o Syndrome  a particular set of multiple anomlaies occurs repeatedly in a consistent pattern and
there is a known or thought to be common underlying casual mechanisms  multiple malformation
syndromes are often associated with moderate or severe cognitive impairment and may be due to
▪ Chromosomal defects
▪ A single gene defect  dominant, recessive or sex-linked
▪ Exposure to teratogens
▪ Unknwon cause
PARTICUALR CHARACTERISCS OF SYNDROMES

• Noonan syndrome  affects males & females  there are some similarities to the phenotype in Turner
syndrome, but it is caused by mutation in an autosomal dominant gene and the karyotype is normal
o Characteristic facies
o Occasional mild learning difficulties
o Short webbed neck with trident hair line
o Pectus excavatum
o Short stature
o Congenital heart disease  especially pulmonary stenosis or ASD
• Williams syndrome  usually sporadic
o Short stature
o Transient neonatal hypercalcaemia  occasionally
o Congential heart disease  supraventricular aortic stenosis
o Mild to moderate learning difficulties
• Prader-Willi syndrome
o Hypotonia
o Neonatal feeding difficulties
o Failure to thrive in infancy
o Obesity in later childhood
o Hypogonadism
o Developmental delay
o Learning difficulties
• Patau syndrome  trisomy 13
o Structural defect of brain
o Scalp defects
o Small eyes (microphthalmia) and other eye defects
o Cleft lip & palate
o Polydactyly
o Cardiac & renal malformations
• Edwards syndrome  trisomy 18
o Low birthweight
o Prominent occiput
o Small mouth & chin
o Short sternum
o Flexed, overlapping fingers
o ‘Rocker-bottom’ feet
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o Cardiac & renal malformation
• Klinefelter syndrome  47, XXY
o Infertility  most common presentation
o Hypogonadism with small testes
o Pubertal development may appear normal
o Gynaecomastia in adolescence
o Tall stature
o Intelligence usually in normal range, but some have educational & psychological problems
Understand the aetiology, key features and neurodevelopmental problems of foetal alcohol syndrome
• Excessive alcohol ingestion during pregnancy is sometimes associated with ‘foetal alcohol syndrome’
o Growth restriction
o Characteristic face
▪ Saddle-shaped nose
▪ Maxillary hypoplasia
▪ Absent philtrum
▪ Short, thin upper lip
o Developmental delay  reduced IQ
o Microcephaly
o Cerebral palsy
o Cardiac defects  up 70%
o ADHD or autisim-like behaviour
• The effects of less severe ingestion and binge-drinking remain uncertain, but may affect growth and
development  so mothers are advised to avoid alcohol
• Can be associated with learning difficulties  problems with thinking, speech, social skills, timekeeping,
maths or memory
Be aware of fragile X syndrome and the risk of learning difficulties

• The prevalence of significant learning difficulties in males due to fragile X syndrome is about 1 in 4000 
commonest familial form of learning difficulties
• The condition was initially diagnosed on the basis of the appearance of an apparent gap or break (fragile site)
in the distal part of the long arm of the X chromosome  diagnosis is now achieved by molecular analysis of
the CGG trinucleotide repeat expansion in the relevant gene (FMR1)
• It is inherited as an X-linked recessive disorder  however, a substantial proportion of obligate females
carriers also have learning difficulties (mild to moderate)  around 1 in 5 males who inherit the mutation are
phenotypically normal, but may pass the disorder on to their grandsons through their daughters
• The normal copy of the gene contains fewer than 50 copies of the CGG trinucleotide, but suffers can have 55-
199 copies of the repeating sequence  this expansions causes no intellectual disability in carriers, but is
unstable and may become larger during transmission through females
• Genes with the full mutation contain more than 200 copies of the repeat sequence  affecting gene function
causing all the clinical features
o Moderate-severe learning difficulties  IQ 20-80
o Macrocephaly
o Macro-orchidism  post-pubertal
▪ Long face ▪ Large everted ears
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▪ Prominent mandible ▪ Broad forehead
o Other features  mitral valve prolapse, joint laxity, scoliosis, autisim, hyperactivity
Know the clinical features and later risks associated with Marfan syndrome
• Incidence of Marfan syndrome is 1 in 5000 birhts  variable autosomal dominant multisystem disorder
caused by mutation in the FBN1 gene of chromosome 15q  there is a high new mutation rate (30%)
o Tall & slim body build with long legs o Long fingers  arachnodactyly
o Pectus malformation of the sternum o Joint laxity
o Scoliosis o Myopic  may develop lens
o High narrow palate dislocation
• Cardiac features  floppy mitral valve, but with time there may be dilation of the aortic root leading to to
ascending aorta aneurysm and aortic dissection  treatment with Losartan has greatly improved the outlook
in terms of stabilizing aneurysms
Appreciate the presenting features and development regression seen in Rett’s syndrome
• Rett syndrome affects 1 in 10,000 female births  caused by a mutation in the MECP2 gene on Xq28
• Girls with Rett’s syndrome appear normal in first 6 months of life
• It is a severe neurodevelopement disorder  almost exclusively affects girls and presents after 1y/o with
development regression and loss or purposeful hand movements
• May develop seizures, scoliosis, erratic breathing with episodes of breath-holding & hyperventiliation and
stereotypic hand-wringing
STAGES OF RETT SYNDROME

• Stage 1 – Early signs  development slows down or stops altogether during the period from 6-18 months
o Hypotonia
o Difficulty feeding
o Unusual, repetitive hand movements or jerky limb movements
o Delay with development of speech
o Mobility problems  such as problems sitting, crawling and walking
o Lack of interst in toys
• Stage 2 – Regression  starts to lose some abilities during the ages of 1-4yrs
o Loss of the ability to use the hands purposefully – repetitive hand movements are often difficult to
control and include wringing, washing, clapping or tapping
o Periods of distress, irritability and sometimes screaming for no obvious reason
o Social withdrawal – a loss of interest in people and avoidance of eye contact
o Unsteadiness and awkwardness when walking
o Problems sleeping
o Slowing of head growth
o Difficulty eating, chewing or swallowing, and sometimes constipation that may cause tummy aches
• Stage 3 - Plateau  can begin between 2-10yr and may get slightly better with improvements in behaviour,
interest in people & surroundings and improvements in alertness, attention & communication
o Seizures may become more common
o Irregular breathing patterns may get worse
o Teeth grinding
o Arrhythmias
• Stage 4 – Deterioration in Movement  can last for years or decades, but communication, language & brain
function do not tend to get any worse
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o Development of a scoliosis o Losing the ability to walk
o Muscle weakness and spasticity o Seizures become less of a problem
DUCHENNE MUSCULAR DYSTROPHY

Understand the mode of inheritance
• Duchenne muscular dystrophy It is a X-linked recessive disorder, although about 1/3 have new mutations  it
results from a deletion on the short arm of the X chromosome at the Xp21 site
• This site codes for a protein called dystophin, which connects the cytoskeleton of a muscle fibre to the
surrounding ECM through the cell membrane  where it is deficient, there are several aberrant intracellular
signaling pathways associated an influx of Ca2+ ions, a breakdown of the calcium calmodulin complex and
excess of free radicals leading to myofibre necrosis
• Affects all men and women who are homozygous
Describe the clinical features

• Developing delay  especially late walking and speech delay
• In early phase of the disease  boys have difficulty rising from the floor  Gower’s manoeuvre sign where
the child climbs up high thighs with his hands to get up off the floor
• Later there is early loss of ambulation (mean age 9yrs)  also slower and clumsier than peers
• Affected boys develop a progressive cardiomyopathy
• 30% of boys with DMD have a mild learning disability that is not progressive
• Other signs
o Waddling lordotic gait
o Calf pseudohypertrophy  replacement of muscle fibres by fat & fibrous tissue
o Weakness in limb girdles  Gower’s sign
o Sparing of the facial, extra-ocular and bulbar muscles
o Language delay
o Scoliosis
• DMDs have to mount stairs one by one and run slowly compared to peers
• Average age for diagnosis is 5.5yrs  but children often become symptomatic much earlier
Outline the early diagnostic signs/symptoms and initial screening tests

• Serum creatinine phosphokinase (CPK) is markedly elevated  this can be detected by a neonatal screening
test
• Serum CK is also grossly elevated  usually >10 times normal levels  diagnosis is often possible by genetic
testing, avoiding the need for muscle biopsy
• Genetic analysis cannot differentiate between the milder Becker MD and more severe DMD  therefore
expert interpretation is required
Be aware of the management of cases from time of diagnosis

• Expert genetic counselling is an essential part of management  as DMD follows X-linked recessive
inheritance
• Death from cardiorespiratory failure or infection usually occurs in the late teens or early 20s
• Appropriate exercise helps to maintain muscle power and mobility  delays onset of scoliosis
• Contracture  particularly in the ankles  should be prevented by passive stretching and the provision of
night splints
• Walking can be prolonged with provision of orthoses  in particular those which allow ambulation be leaning
from side to side
• Lengthening of Achilles tendon may be required to facilitate ambulation
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• Attention to maintaining a good sitting posture helps to minimize the risk of scoliosis  which is managed
with a truncal brace, moulded seat and ultimately surgical insertion of a metal spinal rod
• Later in the condition  episodes of nocturnal hypoxia secondary to weakness of the intercostal muscles 
respiratory aids (CPAP) may be provided to improve quality of life
• Parent self-help groups are a useful continuing source of information and support for families
• Ambulant children are increasingly treated with corticosteroids to preserve mobility and prevent scoliosis 
prednisolone for 10 days each month
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NEUROFIBROMATOSIS & TUBEROUS SCLEROSIS

Outline the diagnostic criteria and types
NEUROFIBROMATOSIS
• Neurofibromatosis is a group of conditions, where tumours grow on the nervous system  there are 3 types
of neurofibromatosis:
o Neurofibromatosis 1 (NF1)  affects chromosome 17  light brown spots of the skin, freckles in the
armpit & groin, small bumps within nerves and scoliosis
o Neurofibromatosis 2 (NF2)  affects chromosome 22  hearing loss, cataracts at a young age,
balance problems, flesh coloured skin flaps and muscle wasting  the
o Schwannomatosis
• The tumours are generally non-cancerous
• It is an autosomal dominant, highly penetrant conditions  1 in 3 have new mutations  the gene has been
identified
• In order the make the diagnosis of NF1, two or more of these criteria need to be present
o Six or more café-au-lait spots >5mm in size before puberty  >15mm after puberty
o More than one neurofibroma  an unslightly firm nodular overgrowth of any nerve
o Axillary freckles
o Optic glioma which may cause visual impairment
o One Lisch nodule  a hamartoma of the iris seen on slit-lamp examination
o Bony lesions from sphenoid dysplasia, which can cause eye protrustion
o A 1st degree relative with NF1
• NF2 is less common and presents in adolescence  diagnosis based on have 1 major or 2 minor criteri
o Major
▪ Unilateral vestibular Schwannoma & 1st degree relative with NF2
▪ Bilateral vestibular Schwannoma
o Minor
▪ Meningioma
▪ Schwannoma
▪ Ependymoma
▪ Glioma
▪ Cataract
TUBEROUS SCLEROSIS
• This disorder is a dominantly inherited disorder  but up to 70% are new mutations in TSC1 & TSC2 genes,
which code for the proteins hamartin and tuberin respectively  these are tumour suppressor genes
• Prevalence is 1 in 9000 live births  affects brain, skin, heart, kidney, eye & lung
• Diagnosis of tuberous sclerosis
o Definite diagnosis  two major features or one major feature with ≥2 minor features
o Possible diagnosis  either one major feature or ≥2 minor features
• Major features
o Facial angiofibromas o Subependymal (subE) nodules
o Ungul fibroma o subE giant cell astrocytoma
o Hypomelanotic macules  >3 o Retinal nodular haematoma
o Shagreen patch o Cardiac rhabdomyhomata
• Minor features
o Pits in dental enamel o Cerebral white matter ‘migration
o Rectal polyps tracts’
o Bone cysts o Gingival fibromas
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o Non-renal haematoma o Confetti skin lesions
o Retinal achromic patch o Multiple renal cysts
Be aware of the clinical features and presentation

NEUROFIBROMATOSIS
• Features of NF1
o Cutaneous features tend to be more evident after puberty  there is a wide spectrum of
involvement from mild to severe
o Neurofibromata appear in the course of any peripheral nerve  including cranial nerves  they may
look unsightly or cause neurological signs if they occur at a sute where a peripheral nerve passes
through a bony foramen
o Visual or auditory impairment may result if there is compression of the 2nd or 8th cranial nerves
o Megalencephaly with learning difficulties and epilepsy are sometimes seen
• NF2 is the bilateral acoustic neuromata are the predominant feature  present with deafness and sometimes
a cerebellopontine angle syndrome with a facial (7th) nerve paresis and cerebellar ataxia
• There may be an overlap between the features of NF1 & NF2  both can be associated with endocrinological
disorders  the multiple endocrine neoplasia (MEN) syndromes
TUBEROUS SCLEROSIS
• The cutaneous features consist of
o Depigmented ‘ash-leaf’ shaped patches which fluoresce under UV light
o Roughened patches of skin usually over lumbar spine  shagreen patches
o Adenoma sebaceum in a butterfly distribution over the bridge of the nose & cheeks, which are unualt
before the age of 3yrs  angiofibromata
• Neurological features
o Infantile spasms and developmental delay
o Epilepsy  often focal
o Intellectual impairment
• These children have severe learning difficulties and often have autistic features to their behaviour when older
Be aware of the long term health problems

NEUROFIBROMATOSIS
• Phaeochromocytoma
• Pulmonary hypertension
• Renal artery stenosis with HTN
• Gliomatous change  particular CNS lesions
• Skeletal dysplasia
• Cognitive impairment
TUBUEROUS SCLEROSIS
• Fibromata beneath the nails  subungual fibromata
• Dense white areas on the retina from local degeneration  ophthalmological haematomata
• Cardiac rhabdomyoamata identified in the early weeks on echo, but usually resolve in infancy
• Polycystic kidneys
• Gliomatous change can occur in the brain lesions
• Symptomatic epilepsy
• Pulmonary lymphangiomatosis  only affects girls
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ACHONDROPLASIA
Be able to outline the clinical features and long term problems
• Achondroplasia is an autosomal dominant condition  about 50% are new mutations  affects the FGFR3
gene on chromosome 4p16
• Clinical features  becomes obvious in the 1st year of life
o Short stature from marked shortening of the limbs
o Large head
o Frontal bossing
o Depression of the nasal bridge
o Short/broad hands  ‘trident’ hand
o Marked lumbar lordosis develops
o Hydrocephalus sometimes occurs
• Longer term problems
o Difficulty in arm functioning & locomotion
o Neurological problems due to spinal canal stenosis  ataxia, incontinence, pain, quadriparesis
o Early osteoarthritis
o May be obese
o ENT abnormalities  narrow passages
▪ Otitis media
▪ Speech delay
▪ Deafness
▪ Jaw malocclusion
▪ URTI
o Develop varus leg deformity
o Develop lordosis & kyphosis
o Develop new or more severe spinal stenosis
o Respiratory complications  apnoea
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PKU
Briefly outline the diagnosis and management of Phenylketonuria
• Occurs in 1 in 10,000-15,000 live births in the UK  due to deficiency of the enzyme phenylalanine
hydroxlase (classical PKU) or in the synthesis/recycling of the biopterin cofactor for this enzyme
• It untreated, it usually presents with developmental delay at 6-12 months  there may be a musty odour due
to the metabolite pheylacetic acid
• Many affected children are fair-haired and blue-eyed  some develop eczema and seizures
• In PKU, phenylalanine accumulates and is converted into phenylketones  which are detected in the urine
• Most children are detected through the national biochemical screening programme  heel prick test (Guthrie
test)
• Treatment of classical PKU  most babies appear healthy at birth and if treated in the first 3 weeks of life
show no problems
o Restriction of dietary phenylalanine & high tyrosine  while ensuring there is sufficient for optimal
growth & neurological development  avoid meats, eggs, fish, cheese, beer, flour & aspartame (diet
drinks)
o Blood plasma phenylalanine is monitored regularly
o Recommendation to maintain diet throughout life  particularly important during pregnancy as it is a
teratogen
o Mental health assisted  high levels of depression, anxiety disorder and phobias are also common
o Sapropterin  a drug used in some children as it is an enzyme that encourages PAH to work  it is
very expensive (£100,000 per year)
• Co-factor defects  much poorer prognosis than classical PKU  treated with diet low in phenylalanine and
neurotransmitter precursors
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Neonatology CP2 Learning Objectives Child Health
NEONATOLOGY
• Definitions
o Neonatal period  4 weeks after due date
o Preterm  <37 weeks gestation
o Post-term  >41 weeks gestation
o LBW  <2.5kg
o VLBW  <1.5kg
o ELBW  <1kg
CONGENITAL HEART DISEASE

Know the incidence and most common congenital heart lesions presenting in the neonatal period
Know those conditions that present with cyanosis and those that are acyanotic
• Cyanotic lesions  those involving right to left shunts and common mixing
o Tetralogy of Fallot
o Transposition of Great Arteries
o AVSD
• Acyanotic lesions  those involving left to right shunt and outflow obstruction (if not severe)
o VSD
o ASD
o Persistent arterial duct
o Pulmonary stenosis
o Aortic stenosis
• Severe outflow obstruction will present with collapse and shock
Identify the clinical and radiological features of common congenital heart disease lesions, i.e. VSD, PDA, pulmonary
stenosis, ASD, Tetralogy of Fallot, Coarctation of the aorta and transposition of the great vessels, AVSD
• Small VSDs
o Asymptomatic
o Physical signs
▪ Loud pansystolic murmur at LLSE
▪ Quiet pulmonary 2nd sound (P2)
o Echo  demonstrates precise anatomy of the defect  assess haemodynamics using Doppler  no
pulmonary hypertension
• Large VSDs
o Symptoms
▪ Heart failure with breathlessness and FTT after 1 week old
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▪ Recurrent chest infections
o Physical signs
▪ Tachypnoea, tachycardia & enlarged liver (heart failure)
▪ Active precordium
▪ Soft pansystolic murmur or no murmur
▪ Apical mid-diastolic murmur  due to increased flow across mitral valve
o Investigations
▪ CXR  cardiomegaly, enlarged pulmonary arteries, increased pulmonary vascular markings &
pulmonary oedema
▪ ECG  biventricular hypertrophy by 2 months
▪ Echo  demonstrates the anatomy of the defect, haemodynamic effects and pulmonary
hypertension

• Most children present with continuous murmur beneath the left clavicle  murmur continues into diastole
because the pressure in the pulmonary artery is lower than that in the aorta throughout the cardiac cycle 
the PP is increased, causing collapsing or bounding pulse
• Symptoms are unusal, but when the duct is large there will be increased pulmonary blood flow with heart
failure and pulmonary hypertension
• Investigations  if large and symptomatic features on CXR & ECG are indistinguishable from those seen in a
patient with a large VSD  the duct is readily identified on echo
AORTIC STENOSIS
• Physical signs
o Small volume  slow rising pulse
o Carotid thrill
o Ejection systolic murmur maximal at the URSE radiating to the neck
o Delayed and sort aortic 2nd sound
o Apical ejection click
• Investigations
o CXR  normal or prominent LV with post-stenotic dilation of ascending aorta
o ECG  LV hypertrophy
PULMONARY STENOSIS
• Physical signs
o An ejection systolic murmur at the ULSE  thrill may be present
o An ejection click best heard at the ULSE
o When severe, there is a prominent RV impulse  heave
• Investigations
o CXR  normal or post-stenotic dilation of pulmonary artery
o ECG  RV hypertrophy – upright T wave in V1

• Symptoms
o None
o Recurrent chest infections/wheeze
o Arrhythmias  4th decade onward
• Physical signs
o Ejection systolic murmur heard at ULSE  due to increased flow across pulmonary valve
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o Fixed and widely split 2nd heart sound  due to right ventricular stroke volume equal in inspiration &
expiration
• Investigations
o CXR  cardiomegaly, enlarged pulmonary arteries and increased pulmonary vascular markings
o ECG  partial RBBB
o Echo  will delineate the anatomy and is mainstay of diagnostic investigations
TETRALOGY OF FALLOT
• Classical description is of severe cyanosis, hypercyanotic spells and squatting on exercise, developing in late
infancy  but is now rare in developed countries
• Hypercyanotic spells  may lead to MI, CVA or death if left untreated  characterised by a rapid increase in
cyanosis, associated with irritability or inconsolable crying due to severe hypoxia, breathlessness and pallor
(tissue acidosis)  on auscultation there is a very short murmur during a spell
• Signs
o Clubbing of the finger and toes will develop in older children
o A loud harsh ejection systolic murmur at the LSE from day 1  with increasing right ventricular
outflow tract obstruction, which is predominantly muscular and below the pulmonary valve  the
murmur will shorten and cyanosis will increase
• Investigations
o CXR  relatively small heart, with an uptitled apex (boot-shaped) due to RV hypertrophy 
pulmonary artery ‘bay’, a concavity on the left heart border where the convex-shaped main
pulmonary artery and RV outflow would normally be profiled  decreased pulmonary vascular
markings reflecting reduced pulmonary blood flow
o ECG  RV hypertrophy when older
o Echo  will demonstrate cardinal features, but cardiac catherisation may be required to show the
detailed anatomy of the coronary arteries
COARCTATION OF THE AORTA

o Asymptomatic
o Systemic hypertension in the right arm
o Ejection systolic murmur at USE
o Collaterals heard with continuous murmur at the back
o Radio-femoral delay  due to blood bypassing the obstruction via collateral vessels in the chest wall
and hence the pulse in the legs is delayed
• Investigations
o CXR  rib-notching due to development of large collateral intercostal arteries running under the ribs
posteriorly to bypass the obstruction  ‘3’ sign with visible notch in the descending aorta at the site
of the coaractation
o ECG  LV hypertrophy
TRANSPOSITION OF THE GREAT VESSELS

• Cyanosis is the predominant symptoms  it may be profound & life-threatenging and usually on day 2 of life
when the DA closes leading to a marked reduction in the mixing of saturated and desaturated blood 
cyanosis will be less severe and presentation delayed if there is more mixing of blood (eg. ASD)
• Signs
o Cyanosis is always present
o The 2nd heart sound is often loud & single
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o Usually no murmur  but may be a systolic murmur from increased flow or stenosis within the LV
outflow tract
• Investigations
o CXR  narrow upper mediastinum with an ‘egg on side’ appearance of the cardiac shadow, due to
the anteroposterior relationship of the great vessels, narrow vascular pedicle and hypertrophied right
ventricle respectively  increased pulmonary vascular markings are common due to increased
pulmonary blood flow
o Echo  demonstrates the abnormal arterial connections and associated abnormalities
ATRIOVENTRICULAR SEPTAL DEFECT

• Most commonly seen in Down syndrome  a defect in the middle of the heart with a single five-leaflet valve
between the atria & ventricles, which stretches across the entire atrioventricular junction and tends to leak 
there is also pulmonary hypertension
• Features of AVSD
o Presentation on antenatal US screening
o Cyanosis at birth or heart failure at 2-3 weeks of life
o No murmur heard  the lesion being detected on routine echo in a newborn with Down syndrome
o Always a superior axis on ECG
Know the common congenital heart lesions associated with Down Syndrome and Turner Syndrome
• Down syndrome  associated with AVSD & VSD with 30% incidence
• Turner syndrome  associated with aortic valve stenosis and coarctation of the aorta in 15%
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INFECTIONS
Know the risk factors for neonatal invasive Group B streptococcus (GBS) infection
• Around 10-30% of pregnant women have faecal or vaginal carriage of Group B streptococci  the organism
causes early and late onset sepsis
• The early-onset sepsis  the newborn baby has respiratory distress and pneumonia  in the UK, approx.
0.5-1 in 1000 babies have early-onset infection  most have pneumonia, but it may cause septicaemia and
meningitis
• The severity of the neonatal presentation depends on the duration of the infection in utero  mortality in
babies with positive blood or CSF cultures is up to 10%
• Up to half of infants born to mothers who carry group B strep are colonised on their mucous membranes or
skin  some of these babies develop late-onset disease at up to 3 months of age  it usually present swith
meningitis, or occasionally with focal infection (eg. osteomyelitis or septic arthritis)
• In colonised mothers  risk factors for infection are
o Preterm
o Prolonged rupture of membranes
o Maternal fever during labour (>38oC)
o Maternal chorioamnionitis
o Previously infected infant
Know the antenatal and postnatal management of known GBS positive mums and their babies
• Prophylactic intrapartum antibiotics given IV to the mother can prevent group B strep infection in the
newborn baby
• There are two approaches to the use of intrapartum antibiotics
o Universal screening at 35-38 weeks to identify mothers who carry the organisms
o Risk-based approach, in which mothers with risk factors for infection are offered antibiotics
• The infant will usually present with respiratory distress, apnoea and temperature instability  a CXR should
be performed together with a septic screen  an FBC is performed to detect a neutropenia as well as blood
cultures  CRP is also taken, but takes 12-24hrs to rise
• Antibiotics are started immediately without waiting for cultures and are usually broad spectrum amoxicillin or
benzylpenicillin
o If cultures are negative and clinical signs return to normal, then they are stopped after 48hrs
o If cultures are positive, then continue, check for neurological signs, examine and culture the CSF
List the common viral and bacterial pathogens causing disease in the newborn
• The time of highest risk in childhood for acquiring a serious invasive bacterial infection is the neonatal peroid
 infections fall into two broad categories, early and late-onset sepsis
EARLY ONSET SEPSIS
• In early-onset sepsis (<48hrs after birth)  bacteria have ascended from the birth canal and invaded the
amniotic fluid  the foetus is secondarily infected because the foetal lungs are in direct contact with infected
amniotic fluid  these infants have pneumonia and secondary bacteraemia/septicaemia
• In contrast, congenital viral infections and early-onset infection with Listeria monocytogenes, foetal infection
is acquired via the placenta following maternal infection
• The risk of early-onset infection is increased if there has been prolonged or premature rupture of the amniotic
membranes  and when chorioamnionitis is clinically evident, such as when the mother has fever during
labour
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LATE ONSET SEPSIS
• In late-onset infection (>48hrs after birth)  the source of infection is often the infant’s environment  the
presentation is usually non-specific
• Nosocomially acquired infections are an inherent risk in a neonatal unit  all staff must adhere strictly to
effective hand hygiene measures to prevent cross infection
• In NICU  the main sources of infection are
o Indwelling central venous catheters for parenteral nutrition
o Invasive procedures which break the skin
o Tracheal tubes
• Coagulase negative staphylococcus (Staph epidermis) is the most common pathogen, but the range of
organisms is broad and includes Gram +ve bacteria (Staph aureus & Enterococcus faecalis) and Gram –ve
(E.coli, Pseudomonas, Klebsiella & Serratia species)
• Use of prolonged or broad-spectrum antibiotics predisposes to invasive fungal infections in premature babies
 eg. Candida albicans
• Neonatal meningitis, although uncommon, has a mortality of 20-50%, with 1 in 3 survivors having serious
sequelae  presentation is non-specific, but may include tense or bulging fontanelle and head retraction
(opisthotonos) and are late signs and rarely seen in newborn infants  complications include cerebral
abscess, ventriculitis, hydrocephalus, hearing loss and neurodevelopmental impairment
List the key features of the following common viral illnesses affecting the fetus/newborn: CMV, Reubella, Toxoplasmosis
CMV
• CMV is the most common congenital infection  affecting 3-4/1000 live births in the UK, with higher rates
reported in parts of the USA  in Europe, 50% of pregnant women are susceptible to CMV
• About 1% of susceptible women will have a primary infection during pregnancy  and in about 40% of them
the infant becomes infected
• The infant may become infected following an episode of recurrent infection in the mother  but this is much
less likely to damage the foetus
• When an infant is infected
o 90% are normal at birth and develop normally
o 5% have clinical features at birth - such as hepatosplenomegaly and petechiae  most of whom will
have neurodevelopmental disabilities – such as sensorineural hearing loss, cerebral palsy, epilepsy
and cognitive impairment
o 5% develop problems later in life  mainly sensorineural hearing loss
• Infection in the pregnant women is usually asymptomatic or causes a mild non-specific illness  there is no
CMV vaccine ad pregnant women are not screened for CMV  antiviral therapy for infected infants with
ganciclovir is under investigation in randomised controlled trials
RUBELLA
• The diagnosis of maternal infection must be confirmed serologically as clinical diagnosis is unreliable  the
risk and extent of foetal damage are mainly determined by the gestational age at the onset of maternal
infection
• Infection before 8 weeks’ gestation causes deafness, congenital heart disease and cataracts in >80%
• About 30% of foetuses of mothers infected at 13-16 weeks’ gestation have impaired hearing  beyond 18
weeks, the risk to the foetus is minimal
• Viraemia after birth continues to damage the infant
• Congenital rubella is preventable  in the UK, it has become extremely rare since the MMR vaccine was
introduced into the childhood immunisation programme, but this is dependent on the maintenance of a high
vaccine uptake rate
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TOXOPLASMOSIS
• Acute infection with Toxoplasma gondii  a protozoan parasite, may result from the consumption of raw or
undercooked meat and from contact with the faeces of recently infected cats
• In the UK, fewer than 20% of pregnant women have had past infection, in contrast to 80% in France & Austria
• Transplacental infection may occur during the parasitaemia of a primary infection  about 40% of foetuses
become infected
• In the UK, the incidence of congenital is about 1 per 10,000 live births
• Most infected infants are asymptomatic  about 10% have clinical manifestations of which are
o Retinopathy  an acute fundal chorioretinitis which sometimes interferes with vision
o Cerebral calcification
o Hydrocephalus
• These infants usually have long-term neurological disabilities
• Infected newborn infants are treated for 1 year with pyrimethamine and sulfadiazine
• Aysmptomatic infants remain at risk of developing choriorentinitis into adulthood
CLINICAL FEATURES OF RUBELLA, CMV, TOXOPLASMOSIS & SYPHILIS
DIAGNOSIS OF RUBELLA, CMV & TOXOPLASMOSIS
Outline the key management steps in the care of the HIV positive mother and her baby
• Mothers who are most likely to transmit HIV to their infants are those with a high HIV viral load and more
advanced disease
• Where mothers breastfeed  25-40% of infants become infected with HIV and it is known that avoidance of
breastfeeding reduces the rate of transmission
• In developed countries  perinatal transmission of HIV has been reduced to <1% by using a combination of
interventions
o Use of maternal antenatal, perinatal and postnatal anti-retroviral drugs to achieve an undetectable
maternal viral load at the time of delivery
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o Avoidance of breastfeeding
o Active management of labour & delivery to avoid prolonged rupture of the membranes or uncessary
instrumentation
o Pre-labour C-section if the mother’s viral load is detectable close to the time of delivery
• This effective combination of interventions is not available to all women globally  avoidance of
breastfeeding is not safe in many parts of the world, where use of formula feeding increases the risk of
gastroenteritis and malnutrition
• It may be safer for babies in this environment to breastfeed  and anti-retroviral drugs may be given to the
breastfeeding baby or mother to reduce the ongoing risk of mother-to-child transmission through this route
List the main risk factors for neonatal infection

• Infection is common in preterm infants  they are at an increased risk of infection because no IgG has been
transferred across the placenta until the last trimester and IgA & IgM have not been transferred at all
• Another cause of infection is that there is often infection around the cervix causing preterm labour
• Many other infections occur days after birth and are hospital derived
• There is an increased risk of infection if there is prolonged rupture of membranes (>18hrs)
• Later infections are most likely to be environmental and come from indwelling lines or catheters
Know and recognise the presenting symptoms and signs of neonatal infection including common sexually transmitted
infections
SYPHILIS  
• This is very rare in the UK but if caught when pregnant  leads to a very high infant mortality shortly after
birth
• Symptoms of a newborn infection include
o Failure to thrive o Larger rash
o Fever o Rash of the mouth, anus and genitalia
o Irritability o Watery discharge from the nose
o No bridge to nose o Splenomegaly & hepatomegaly
o Early rash  small blisters o Bone inflammation
• Complications include blindness, deafness, deformities of the face and neurological problems
• Treated with penicillin  
CHLAMYDIA  
• Usually affects the eyes causing conjunctivitis  along with swelling of the eyelids at 1-2 weeks of age  but
may present shortly after birth
• A pneumonia may also develop at 4-6 weeks of age
• Treated with oral erythromycin.
GONORRHOEA
• Associated with chorioamnionitis and increased risk of premature labour
• 40% of untreated maternal cases develop ophthalmia neonatorum  presenting with purulent discharge, lid
swelling and corneal haze within 4 days of birth  this needs treating urgently to prevent blindness
• Treated with penicillin or a third generation cephalosporin
HEPATITIS B/C
• There is a higher risk of chronic hepatitis and all the associated problems
• Treatment is passive immunisation within 24 hours of birth
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HERPES
• Occurs in between 1 in 3000 and 20,000 live births and is usually transmitted via an infected birth canal.
• Infection is more common in preterm infants and presentation is anywhere up to 4 weeks of age with
localised herpetic lesions on the skin or eye, or with encephalitis or disseminated disease
• Mortality due to local disease is low but even with treatment disseminated disease has a high mortality with
considerable morbidity if not fatal
• Treatment is ideally caesarean and antiviral treatment.
Understand that bilious vomiting in the newborn is pathological and list some common causes
• This is mostly covered in the Gastroenterology & Surgery learning objectives
• Causes include  all cause obstruction below the duodenum
o Intussusception
o Obstruction
o Vovlulus
o Malrotation
o Tumours
o Hirschprung’s disease
o Constipation/meconium ileus
Have a basic understanding of the treatment of neonatal bacterial infections

EARLY-ONSET SEPSIS
• IV antibiotics are given to cover certain infection (penicillins)  combined with cover for Gram –ve organisms
(aminoglycosides)
o Group B streptococci
o Listeria monocytogenes
o Other Gram +ve organisms (penicillins)
LATE-ONSET SEPSIS
• Initial therapy is aimed to cover most staphylococci and Gram –ve bacilli  flucloxacillin & gentamicin
• If organism is resistant to these antibiotics or the infant’s condition does not improve, specific antibiotics or
broad-spectrum  eg. vancomycin for coagulase-negative staphylococci or enterococci
MENINGITIS
• If meningitis is thought likely  ampicillin or penicillin and a third-generation cephalosporin (eg. Cefotaxime,
which has CSF penetration) are given
Recognise that neonatal infection results in significant morbidity and mortality especially in preterm infants
• All mortality and morbidity information has been included with each infection
Understand what is meant by an infection screen in newborn infants

• Clinical features of neonatal sepsis
o Fever or temperature instability or o Jaundice
hypothermia o Neutropenia
o Poor feeding o Hypo-/hyperglycamemia
o Vomiting o Shock
o Apnoea & bradycardia o Irritability
o Respiratroy distress o Seizures
o Abdominal distension o Lethargy & drowsiness
• Sepsis screen
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o FBC   o Lumbar puncture  
o U&E’s with glucose   o Urine culture and dip  
o Blood culture   o CRP  
o Chest radiograph   o CT or MRI (if suspected meningitis)  
Interpret common investigations used for newborn infection, i.e. chest Xrays, lumbar puncture, CRP
• This is similar to adult medicine and should be self explanatory
• CRP should be less than 5
Outline the risk to the newborn of maternal hepatitis B infection and the preventative measures to avoid newborn
transmission
• Hepatitis V is a DNA virus, which is an important cause of acute and chronic liver disease worldwide  with
high prevalence and carrier rates in the Far East, sub-Saharan Africa and parts of North & South America
• HBC is transmitted by
o Perinatal transmission from carrier mothers
o Transfusion of infected blood or blood products
o Needlestick injuries with infected blood
o Renal dialysis
o Horizontal spread within families
o Among adults it can also be transmitted sexually
• Infants who contract HBV perinatally are asymptomatic  but at least 90% become chronic carriers
• Older children who contract HBV may be asymptomatic or have classical features of acute hepatitis
• The majority resolve spontaneously  but 1-2% develop fulminant hepatic failure  while 5-10% become
chronic carriers
• The diagnosis is made by detecting HBV antigens and antibodies
o IgM antibodies to the core antigen (anti-HBc) are positive in acute infections
o Positivity to hepatitis B surface antigen (HBsAg) denotes ongoing infectivity
• There is no treatment for acute HBV infection
CHRONIC HEPATITIS B
• Infants infected with HBV by vertical transmission from their mothers usually become asymptomatic carriers
 approx. 30-50% of carrier children will develop chronic HBV liver disease, which may progress to cirrhosis
in 10%
• There is a long-term risk of hepatocellular carcinoma
• Current treatment regimens for chronic HBV have poor efficacy  Interferon treatment for chronic HBV is
successful in 50% of children infected horizontally and 30% of children infected perinatally
• Oral anti-viral therapy is effective in 23%, but is limited by the development of resistance  such as
lamivudine
• Newer drugs may be more effective  such as adefovir or long-acting interferon
PREVENTION
• All pregnant women should have antenatal screening for HbsAg  babies with all HBsAg-positive mothers
should receive a course of hepatitis B vaccination with hepatitis B immunoglobulin also being given if the
mother is also hepatitis B e antigen (HbeAg)-positive
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• Antibody response to the vaccination course should be checked in high-risk infants as 5% require further
vaccination  other members of the family should also be vaccinated
• There is eveidence that effective neonatal vaccination reduces the incidence of HBV-related cancer (HCC)
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IN UTERO GROWTH RETARDATION (IUGR)

Define intrauterine growth retardation (IUGR) and how this differs from small for gestational age (SGA)
• IUGR refers to a reduction and restriction in expected foetal growth pattern  it affects 3-10% of pregnancies
and 20% of still-born infants are thought to have evidence of IUGR
• Perinatal mortality rates are 4-8 times higher for growth-retarded infants, and morbidity is present in 50% of
suriving infants
• SGA is a birth weight <10th centile for gestational age  often normal, but small  incidence of congenital
abnormalities and neonatal problems is higher in those whose birth weight falls below 2nd centiles 
generally genetically programmed to be small, but does also include children who have failued to meet their
genetic size (eg. IUGR)
• IUGR is failure of growth in utero that may or may not result in SGA  infants have been asymmetrically
restricted, so are less than their genetically predetermined size  weight & abdominal circumference will lie
on a lower centile than that of the head due to brains development taking priority  associated with utero-
placental dysfunction secondary to maternal pre-eclampsia, multiple pregnancy, maternal smoking and may
be idiopathic
List the common causes of IUGR

• Placental causes • Maternal factors
o A small placenta  cannot supply the o Increased maternal age
needed nutrients o Hypertension or heart disease
o Cell death of the placenta o Diabetes
o Pre-eclampsia o Alcohol abus
• Foetal causes o Use of drugs  include cannabis
o Multiple pregnancies  15-20% of o Maternal smoking  30-40% of cases
twins o Renal disease
o Chromosomal abnormalities  eg. o Untreated Coeliac disease
Down/Edward/Turner/Patau’s o Thrombophilia
syndrome o Drugs  including warfarin, steroids
o Congenital defects  associated with and phenytoin
SGA
o Intrauterine infection  eg. CMV,
toxoplasmosis, rubella or syphilis
Understand the short and long term complications of IUGR

• In placental causes of IUGR  ‘catch-up growth’ occurs after birth in the majority of infants during the first 1-
2yrs of life  with infants regaining their genetically determined weight & height centiles
• However, in approx. 15-20% of infants with IUGR  catch-up growth does not occur and patients are at risk
of short stature
• Recent studies also implicate IUGR in adult onset of HTN & CHD, and in early onset obesity, PCOS and T2DM
 these studies suggest that IUGR has long-term effects on insulin sensitivity and on endocrine function
• If there was slow head growth before 26 weeks, then they may show significant development delays at 4yrs
• An extremely low birth weight confers a high risk of perinatal mortality and neonatal morbidity  studies
have shown an infant <2.5kg birth weight have x3 increased risk of coronary artery disease later in life 
there is also an increased risk of hypertension, T2DM and autoimmune thyroid disease
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NEONATAL RESPIRATORY DISTRESS

Know the presenting features, risk factors and outline treatment for common causes of neonatal respiratory distress, i.e.
transient tachypnoea of the newborn, respiratory distress syndrome, congenital pneumonia, congenital anomalies (e.g.
heart disease, diaphragmatic hernia), septicaemia and meconium aspiration.
Signs of respiratory distress include:
• Tachypnoea >60 breaths/min  
• Laboured breathing, with chest wall recession and nasal flaring  
• Expiratory grunting  
• Cyanosis if severe  
TRANSIENT TACHYPNOEA
• The commonest cause of respiratory distress in term infants  caused by delay in the resorption of lung
liquid and is more common after birth by C-section  not removed the amniotic fluid into the lymphatics
• CXR show fluid in the horizontal fissure  additional ambient oxygen may be required
• The condition usually settles within the first day of life, but can take several days to resolve completely
• This is a diagnosis made after consideration and exclusion of other causes
RESPIRATORY DISTRESS SYNDROME

• Ground glass appearance  often pre-term
• Respiratory distress syndrome  much more common in immature lungs (<28 weeks) and is caused by
deficiency in surfactant and an immature respiratory centre in the brain
• Surfactant is produced by type 2 alveolar cells and lowers the surface tension of the alveolar air sacs
• In term infants, it may have a genetic cause or occur in infants born to diabetic mothers  also seen in
meconium aspiration
• Treatment is with antenatal steroids in 2 doses within 48hrs before delivery when the labour is <34 weeks
gestation  this leads to lung maturation and surfactant production  the 2nd therapy is artificial surfactant
that can reduce deaths by over 40%
• Infants with RDS develops signs of respiratory distress with 4hrs postpartum  it is characterised by grunting,
which is breathing out against a closed epiglottis in order to maintain positive pressure in the airways
CONGENITAL PNEUMONIA
• Congenital pneumonia or neonatal pneumonia  an inflammatory condition localized in the lungs
• It can be caused by a virus or bacteria  the condition is hard to diagnose and is a leading cause of death
among newborns
• Pneumonia in babies is dangerous, especially for premature and low birth weight newborns
• Predisposing factors
o Prolonged rupture of membranes
o Chorioamnionitis
o Low birthweight
• Infants with respiratory distress will usually require investigation to identify any infection
• Broad-spectrum antibiotics are started early until the results of the infection screen are avaliable
CONGENITAL ANOMALIES
• Heart disease  usually caused by the more severe lesions such as HPLH syndrome, but can be due to any
cause  covered in more detail in cardiac learning objectives
• Diaphragmatic hernia  covered in its own learning objectives  when an abdominal organ moves up into
the thorax through a defect in the diaphragm
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SEPTICAEMIA
• Covered in its own set of learning objectives  but commonly caused by E.Coli and Group B Strep in neonates
MECONIUM ASPIRATION
• Meconium is passed before birth by 8-20% of babies  it is rarely passed by preterm infants and occurs
increasingly the greater the gestations age  affecting 20-25% of deliveries by 42 weeks
• May be passed in response to foetal hypoxia  asphyxiated infants may start gasping and aspirate meconium
before delivery  meconium is a lung irritant and results in both mechanical obstruction and a chemical
pneumonitis, as well as predisposing to other infection
• In meconium aspiration, the lungs are over-inflated, accompanied by patches of consolidation & collapse on
CXR  there is a high incidence of air leak, leading to pneumothorax and pneumomediatrinum
• Artificial venitliation is often required  may also develop perisistent pulmonary hypertension of the
newborn, which may make it difficult to achieve adequate oxygenation despite high pressure ventilation
• Severe meconium aspiration is associated with significant morbidity & mortality
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PREMATURITY
List the common problems associated with prematurity and have a general understanding of their presentation and
management, include: respiratory distress syndrome, necrotising enterocolitis, infection, hypoglycaemia, temperature
control, apnoea of prematurity, retinopathy of prematurity and intraventricular haemorrhage (IVH)
RESPIRATORY DISTRESS SYNDROME
• In RDS, there is a deficiency of surfactant which lowers surface tension  surfactant is a mixture of
phospholipids and proteins excreted by type 2 pneumocytes of the alveolar epithelium
• Surfactant deficiency leads to widespread alveolar collapse and inadequate gas exchange  the more
preterm the infant, the higher the incidence of RDS  it is common in infants born before 28 weeks and
tends to be more severe in boys than girls
• Surfactant deficiency is rare at term  but may occur in infants of diabetic mothers
• Glucocorticoids given antenatally to the mother can stimulate the foetus to produce surfactant and are given
if preterm delivery is anticipated
• The development of surfactant therapy has been a major advance  preparations are natural, derived from
extracts of calf or pig lung  they are instilled directly into the lung via a tracheal tube  shown to reduce
mortality from RDS by 40% without increasing the morbidity rate
• At delivery or within 4hrs of birth, babies with RDS develop clinical signs of
o Tachypnoea >60 breaths/min
o Laboured breathing with chest wall recession and nasal flaring
o Expiratory grunting in order to try to create positive airway pressure during expiration and maintain
functional residual capacity
o Cyanosis if severe
• CXR of RD shows a diffuse granular or ‘ground glass’ appearance of the lungs and an air bronchogram where
the airways are outlined  the heart border becomes indistinct or obscured completely with severe disease
• Treatment with raised ambient oxygen is required  may need to be supplemented with CPAP or artificial
ventilation via a tracheal tube  the ventilatory requirements need to be adjusted according to the infant’s
oxygenation, chest wall movements and blood gas analysis  mechanical ventilation may be required
• High-flow humidified oxygen therapy via a nasal cannulae may be used to wean babies from added oxygen
therapy
NECROTISING ENTEROCOLITIS
• Necrotising enterocolitis  a serious illness mainly affecting preterm infants in the first few weeks of life 
associated with bacterial invasion of ischaemic bowel wall
• Preterm infants fed cow’s milk formular are more likely to develop this condition than if they are fed only on
breast milk
• The infant stops tolerating feeds, milk is aspirated from the stomach and there may be bile-stained vomiting
 the abdomen becomes distended and the stool sometimes contains fresh blood  the infant may rapidly
become shocked and require artificial ventilation because of abdominal distension and pain
• Characteristic x-ray features  distended loops of bowel and thickening of the bowel wall with intramural gas
 there may be gas in the portal tract
• The disease may progress to bowel perforation, which can be detected by X-ray or by transillumination of the
abdomen
• Treatment is to stop oral feeding and give broad-spectrum antibiotics to cover both aerobic and anaerobic
organisms  parenteral nutrition is always needed, as well as artificial ventilation and circulatory support 
surgery is performed for bowel perforation
• The disease has significant morbidity and a mortality of about 20%  long-term sequelae include the
development of strictures and malabsorption if extensive bowel resection has been necessary
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INFECTION
• Preterm infants are at an increased risk of infection as IgG is mostly transferred across the placenta in the last
trimester and no IgA or IgM is transferred  in addition, infection in or around the cervix is often a reason for
preterm labour and may cause infection shortly after birth
• Most infections in preterm infants occur after several days of age and are nosocomial (hospital-derived) 
they are often associated with indwelling catheters or artificial ventilation
HYPOGLYCAEMIA
• Hypoglycameia is particularly likely in the first 24hrs of life in babies
o With IUGR o Hypothermic
o Who are preterm o Polycythaemic
o Born to mothers with diabetes o Ill for any reason
o Large for gestational age
• Growth restricted and pre-term infants have poor glycogen stores whereas the infants of a diabetic mother
have sufficiency glycogen stores, but hyperplasia of the islet cells cause high insulin levels
• Symptoms
o Jitteriness o Lethargy
o Irritability o Drowsiness
o Apnoea o Seizures
• Many babies can tolerate low glucose levels due to the use of lactate and ketones  but a level >2.6mmol/L
is desirable for good neurodevelopment, although many babies have levels transiently below this in the first
24hrs
• Hypoglycaemia can be prevented by early and frequent feeding with breast milk and regular monitoring if at
risk  if an asymptomatic infant has two levels <2.6 or one <1.6 then IV infusion is given
• Abnormal results should be confirmed in the laboratory and high IV concentrations should be given centrally
to avoid peripheral skin necrosis  glucagon and hydrocortisone may also be given
TEMPERATURE CONTROL
• Hypothermia causes increased energy consumption and may result in hypoxia and hypoglycaemia, failure to
gain weight and increased mortality
• Preterm infants are particularly vulnerable to hypothermia, as
o They have a large surface area relative to their mass  so there is a greater heat loss than heat
generation
o Their skin is thin and heat permeable  so transepidermal water loss is important in the 1st week of
life
o They have little subcutaneous fat for insulation
o They are often nursed naked and cannot conserve heat curling up or generate heat by shivering
• There is a neutral temperature range in which an infant’s energy consumption is at a minimum level  in the
very immature baby, this neutral temperature is highest during the first few days of life and subsequently
declines
• The temperature of these small babies is maintained using incubators or initially with overhead radiant
heaters  incubators also allow ambient humidity to be provided, which reduces transepidermal heat loss
APNOEA OF PREMATURITY
• Episodes of apnoea, bradycardia and desaturation are common in very low birthweight infants until they
reach abut 32 weeks gestation
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• Bradycardia may occur either when an infant stops breathing for >20-30secs or when breathing continues,
but against a closed glottis
• An underlying cause needs to be excluded, but in many instances the vause is immaturity of central
respiratory control  other possible causes
o Hypoxia o Hypoglycaemia
o Infection o Seizure
o Anaemia o Heart failure
o Electrolyte disturbance o Aspiration due to GORD
• Breathing will usually start again after gentle physical stimulation
• Treatment with the respiratory stimulate caffeine often helps  CPAP may be necessary if apnoeic episodes
are freuquent
RETINOPATHY OF PREMATURITY
• Retinopathy of prematurity (ROP)  affects developing blood vessels at the junction of the vascular and non-
vascularised retina  there is vascular proliferation which may progress to retinal detachment, fibrosis and
blindness
• It was initially recognised that the risk is increased by uncontrolled use of high concentrations of oxygen 
even with careful monitoring of the infant’s oxygenation, retinopathy is still found in 35% of all very low
birthweight infants
• As laser therapy reduces visual impairment  the eyes of susceptible preterm infants (<1500g or <32 weeks)
are screened every week by an ophthalmologist
• Severe bilateral visual impairment occurs in about 1% of very low birthweight infants  mostly in infant of
<28 weeks gestation
INTRAVENTRICULAR HAEMORRHAGE
• Intraventricular haemorrhage is very common in very low weight infants (60-70% if 500-750g)  presents
in the 1st few days of life with
o Apnoea o Sleepiness
o Lethargy o May progression to coma & bulging
o Poor muscle tone fontanelle
• Management is supportive with correction of acidosis, anaemia & hypotension  fluid treatment may be
needed along with medicine to decrease ICP
• The definitive treatment is a ventriculoperitoneal shunt
Understand the principles and methods of delivering good nutrition to the premature newborn
• Preterm infants have a high nutritional requirement because of their rapid growth  infant at 28 weeks
double their birthweight in 6 weeks and treble it in 12 weeks  whereas term babies double their weight in
only 4½ months and treble it in a year
• Infants of 35-36 weeks are mature enough to suck and swallow milk  less mature infants will need to be fed
via an oro- or nasogastric tube  even in very preterm infants, enteral feeds (preferably breast milk) are
introduced as soon as possible  in these infants, breast milk needs ot be supplemented with phosphate and
may need supplementation with protein, calories & calcium
• In some neonatal unite, extremely preterm infants are initially fed on donor breast milk if maternal breast
milk is not available
• If formula feeding is required, special infant formulas are available which are designed to meet the increased
nutritional requirements of preterm infant, but do not provide protection against infection or other benefits
of breast milk
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• In the very immature or sick infant, parenteral nutrition is often required  this is usually given through a
central venous catheter inserted peripherally (PICC line), paying strict attention to aseptic technique both
during insertion and when fluids are changed  however, PICC lines carry a significant risk of septicaemia –
other risks include thrombosis of major vein  for this reason, parenteral nutrition may sometimes be given
via a peripheral vein, but extravasation may cause skin damage with scarring
• Poor bone mineralisation (osteopenia of prematurity) was previously common, but is prevented with
provision of adequate phosphate, calcium and vitamin D  because iron is mostly transferred to the foetus
during the last trimester, preterm babies have low iron stores and are at a risk of iron deficiency  this is in
addition to loss of blood from sampling and an inadequate erythropoietin response  iron supplements are
started several weeks of age and continued after discharge home
Understand the importance of breast milk to the premature infant

• Advantages to the infant
o Provides ideal nutrition for infants during the first 4-6 months of life  
o Is life saving in developing countries  
o Reduces the risk of GI infection and, in preterm infants, of  necrotising enterocolitis  
o Enhances the mother-child relationship  
o Reduces the risk of diabetes, hypertension and obesity in later life  
o More easily digested than other sources  
Briefly discuss the impact of prematurity on lung development and the risk of chronic lung disease and other respiratory
morbidity.
• Infants who still have an oxygen requirement at a post-gestational age of 36 weeks are described as having
bronchopulmonary dysplasia (BPD) or chronic lung disease  the lung damage comes from pressure and
volume trauma from artificial ventilation, oxygen toxicity and infection
• The CXR characteristically shows widespread areas of opacification, sometimes with cystic changes
• Some infants need prolonged artificial ventilation, but most are weaned onto CPAP followed by additional
ambient oxygen, sometimes over several months  some babies go home while still receiving additional
oxygen
• Corticosteroid therapy may facilitate earlier weaning from the ventilator and often reduces the infant’s
oxygen requirements in the short term  but concern about increased risk of abnormal neurodevelopment
including CP limits use to those at highest risk and only short courses are given
• A few infants with severe disease may die of Intercurrent infection or pulmonary hypertension  subsequent
pertussis and RSV infection may cause respiratory failure necessitating intensive care
• Pneumothorax  in RDS air from the over distendned alveoli may track into the interstitum resulting in
pulmonary interstitial emphysema  in 10% of infants ventilated for RDA, air leaks into the pleural cavity and
causes a pneumothorax  to avoid this infants are ventilated at the lowest pressure to achieve good
oxygenation  treatment involves CXR and chest drain
Outline the neurodevelopmental complications of prematurity

• About 5-10% of very low birthweight infants develop cerebral palsy  but the most common impairments are
learning difficulties
• The prevalence of cognitive impairment and of other associated difficulties increases with decreasing
gestational age at birth, and is greatest if born at very early gestational age (<26 weeks)  it becomes
increasingly evident when the individual child is compard to their peers at nursery or school
• In addition, children may have difficulties with
o Fine motor skills  eg. threading beads
o Concentration, with short attention span
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o Behaviour problems  especially attention deficit disorders
o Abstract reasoning  eg. mathematics
o Processing several tasks simultaneously
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THE NORMAL NEWBORN

Understand the respiratory and cardiovascular changes that occur during the transition from fetus to newborn
CARDIOVASCULAR CHANGES
• In the foetus, the left atrial pressure is low, as relatively little blood returns from the lungs  the pressure in
the right atrium is higher than in the left, as it receives all the systemic venous return including blood from the
placenta  he flap valve of the foramen ovale is held open due to this pressure  blood flows across the
atrial septum into the left atrium and then into the left ventricle  which in turns pumps it to the upper body
• With the first breaths, resistance to pulmonary blood flow falls and the volume of blood flowing through the
lungs increases six-fold  this results in a rise in the left atrial pressure
• Meanwhile, the volume of blood returning to the right atrium falls as the placenta is excluded from the
circulation  the change in the pressure differences causes the flap valve of the foramen ovale to be closed
 the ductus arteriosus (connects pulmonary artery to aorta in foetus) normally closes within the first few
hrs or days
• Some babies with congential heart lesions rely on blood flow through the duct  their clinical condition will
deteriorate dramatically when the duct closes, which is usually at 1-2 days of age, but occasionally later
RESPIRATORY CHANGES
• Lung liquid is reabsorbed  chest compression during birth squeezes out a third and the release of
adrenaline promotes reabsorption of the rest
• Surfactant is released  triggered by adrenaline and steroids, and synthesis is also begun
• A fall in the capillary pressure of the lungs occurs with expansion of the alveoli and the vasodilatoy effect of
oxygen  respiratory movements of the chest commence
Know the important time frames for the newborn to: pass urine, open bowels and regain birth weight
• Bowels  usually within 6hrs or before birth, but up to 24hrs
• Bladder  up to 24hrs
• Weight  newborns lose around 7-10% of their weight, but should regain it in about 2 weeks
Understand the importance of maternal bonding and breast feeding

• Bonding is very important in terms of attachment and psychological development  it also helps the mother
deal with post-natal blues
• The benefits of breast feeding have already been mentioned in another learning objective
• Often babies are nursed by kangaroo care  immediately after birth the baby is cleaned and then put on the
mother’s abdomen and covered with a towel  the baby will move up the abdomen and being suckling
effectively within 60mins  this promotes strong bonding
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Understand the importance of vitamin K prophylaxis

• Vitamin K deficiency may result in haemorrhagic disease of the newborn  this disorder can occur during the
1st week of life, or from week 1-8
• In most affected infants, the haemorrhage is mild  such as bruising, haematemesis and melaena, or
prolonged bleeding of the umbilical stump or after a circumcision  however, some suffer from intracranial
haemorrhage – 50% of whom are permanently disabled or die
• Breast milk is a poor source of vitamin K, where as infant formula milk has a much higher vitamin K content 
haemorrhagic disease of the newborn may occur in infants who are wholly breast-fed, but not if fed with an
infant formula
• Infants of mothers taking anti-convulsants are at increased risk of haemorrhagic disease, both during delivery
and after birth  due to the medications impairing the synthesis of vitamin K-dependent clotting factors 
infants with liver disease are aslo at increased risk
• The disease can be prevented if vitamin K is given by IM injection  in the UK, it is given to all newborn
infants immediately after birth  however, parents may request oral vitamin K as an alternative  as
absorption via the oral route is variable, three doses are needed over the first 4 weeks of life to achieve
adequate liver storage
• Mothers on anti-convulsant therapy should receive oral prophylaxis from 36 weeks and the baby should be
given IM vitamin K
Outline the important screening methods used during infancy, namely newborn examination, hearing screening, the
Guthrie card and antenatal screening for newborn disorders
NEWBORN EXAMINATION
HEARING SCREENING
• Universal screening has been introduced in the UK to detect severe hearing impairment in newborn infants 
early detection and intervention improves speech and language
• Evoked optoacoustic emission (EOAE) testing  when an earphone is placed over the ear and a sound is
emitted which evokes an echo or emission from the each if cochlear function is normal  used as the initial
screening test
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• If a normal test is not achieved  testing with automated auditory brainstem response (AABR) audiometry,
using computer analysis of EEG wave forms evoked in response to a series of clicks, is performed  with
referral to a paediatric audiologist if abnormal
GUTHRIE TEST
• Biochemical screening is performed on every baby  a blood sample is take via a heel prick when feeding has
been established on day 5-9
• In all infants in the UK, there is screening for
o Hypothyroidism
o Haemoglobinopathies  sickle cell & thalassaemia
o Cystic fibrosis
o Inherited metabolic diseases
▪ Phenylketonuria (PKU)
▪ Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
▪ Maple syrup urine disease (MSUD)
▪ Isovaleric acidaemia (IVA)
▪ Glutaric aciduria type 1 (GA1)
▪ Homocystinuria (HCU)
• Screening for cystic fibrosis is performed by measuring the serum immunoreactive trypsin  which is raised if
there is pancreatic duct obstruction  if raised, DNA analysis is performed to reduce the false positive rate
ANTENATAL SCREENING
• During pregnancy there will be a number of blood tests to check for problems along with the ultrasound scan
 infection will be checked for along with Rhesus disease and Pre-eclampsia
• Ultrasound is generally used to
o Show the babies measurements
o Number of babies
o Any abnormalities  particularly head & spine
o Show the position of the baby
o Check for normal development
• However, ultrasound can be used to find a whole host of other conditions including
o Cleft lip palate
o Cardiac problems
o Spina bifida
o Bowel problems
o Down syndrome
• Amniocentesis and chorionic villus sampling are available, but are not carried out routinely
Understand the physiology, risk factors and treatment of jaundice including prolonged jaundice especially in respect to
early recognition of biliary atresia
• This is covered in the set of learning objectives on jaundice
Appreciate that babies are discharged early and severe jaundice may present in the community setting
• This is covered in the set of learning objective on jaundice
• Jaundice can present immediately (more serious) or after several days to weeks  this can be normal in most
babies, but needs monitoring.
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COMMON NEWBORN PROBLEMS

Be able to give an outline of common newborn conditions including: dermatological conditions (erythema toxicum,
Mongolian blue spots, capillary haemangiomas), physiological jaundice, feeding difficulties, small for gestational age,
birth trauma (including cephalohaematoma and brachial plexus injury) and the sticky eye
ERYTHEMA TOXICUM
• Also known as neonatal urticaries  a common rash appearing at 2-3 days of age  consisting of white
pinpoint papules at the centre of an erythematous base
• The fluid contains eosinophils  the lesions are concentrated on the trunk  the come and go at different
sites
MONGOLIAN BLUE SPOTS

• Blue/black macular discolouration at the base of the spine and on the buttocks  occasionally occur on th
legs and other parts of the body
• Usually, but not invariably in Afro-Caribbean or Asian infants
• They fade slowly over the first few years  they are of no significance unless misdiagnosed as bruises
CAPILLARY HAEMANGIOMAS
• Pink macules on the upper eyelids, mid-forehead and nape of the neck 
common and arise from distension of the dermal capillaires
• Those on the eyelids gradually fade over the first year  those on the neck
become covered in hair
• Sometimes called ‘Strawberry birthmarks’
PHYSIOLOGICAL JAUNDICE
• Most babies will become mildly or moderately jaundiced between day 2 – 2 weeks of age  this normally has
no underlying cause
• The bilirubin has risen as the infant is adapting to the transition from foetal life
• The term ‘physiological jaundice’ can only be used when all other causes have be considered
FEEDING DIFFICULTIES
• Feeding difficulties could be due to a variety of reasons which include cleft palate or lip, being premature
and unable to suck/swallow, poor attachment to the nipple due to poor technique or GORD
Suggestive Symptoms/Signs Organic Red Flags Behavioural Red Flags
Prolonged mealtimes Dysphagia Food fixation (selective, extreme dietary
limitations)
Food refusal lasting <1 month Aspiration Noxious (forceful and/or persecutory) feeding
Disruptive and stressful mealtimes Apparent pain with feeding Abrupt cessation of feeding after a trigger
event
Lack of appropriate independent Vomiting and diarrhoea Anticipatory gagging
feeding
Nocturnal eating in toddler Developmental delay Failure to thrive
Distraction to increase intake Chronic cardio-respiratory
symptoms
Prolonged breast or bottle-feeding Growth failure (failure to thrive)
Failure to advance textures
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SMALL FOR GESTATIONAL AGE
• An infant’s gestation and birthweight influence the nature of the medical problems likely to be encountered in
the neonatal period
• In the UK, 7% of babies are of low birthweight (<2.5kg)  however, they account for about 70% of neonatal
deaths
• Babies with a birthweight below the 10th centile for their gestational age are called ‘Small for Gestational age’
 the majority of these infants are normal, but small
• The incidence of congenital abnormalities and neonatal problems is higher in those whose birthweight falls
below the 2nd centile, and some authorities restrict the term to this group of babies
• An infant’s birthweight make also be low because of preterm birth, or because the infant is both preterm and
small for gestational age
• Small for gestational age infants may have grown normally but are small, or they may have experiences IUGR
 so have failed to reach their full genetically determined growth potential and appear thin & malnourished
• Babies with a birthweight >10th centile may also be malnourished  eg. a foetus growing along the 80th
centile who develops a growth failure and whose weight falls to the 20th centile
BIRTH TRAUMA
• Infants may be injured at birth, particularly if they are malpositioned or too large for the pelvic outlet 
injuries may also occur during manual manoeuvres (Forceps or Ventouse)  C-sections have reduced the risk
of severe birth injuries
Soft Tissue Injuries

• Caput succedaneum  bruising & oedema of the presenting part extending beyond the margins of the skull
bones  resolves in a few days
• Cephalhaematoma  haematoma from bleeding below the periosteum, confined within the margins of the
skull sutures  it usually involves the parietal bone and the centre of the haematoma feels soft  resolves
over several weeks
• Chignon  oedema & bruising from Ventouse delivery
• Bruising to the face after face presentation and to the genitalia & buttocks after breech delivery
• Abrasion to the skin from scalp electrodes applied during labour or from accidental scalpel incision at C-
section
• Forceps marks to face from pressure of blades  transient
• Subaponeurotic haemorrhage (very uncommon)  diffuse, boggy swelling of scalp on examination, blood loss
may be severe and lead to hypovolaemic shock and coagulopathy
Nerve Palsies
• Brachial nerve palsy  results from traction to the brachial plexus nerve roots  may occur at breech
deliveries or with shoulder dystocia
• Upper nerve root (C5/6) injury  results in an Erb palsy and may be accompanied by phrenic nerve palsy
causing an elevated diaphragm
• Most palsies resolves completely, but should be referred to an orthopaedic or plastic surgeon if not resolved
by 2-3 months  most recover by 2 years
• A facial nerve palsy may result from compression of the facial nerve against the mother’s ischial spine  it is
unilateral and there is facial weakness on crying, but the eye remains open  it is usually transient, but
methylcellulose drops may be needed for the eye
• Rarely, nerve palsies may be from damage to the cervical spine  where there is a lack of movement below
the level of the lesion
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Fractures
• Clavicle  usually from shoulder dystocia  a snap may be heard at delivery or the infant may have reduced
arm movement on the affected side, or a lump from callus formation may be noticed over the clavicle at
several days of age  the prognosis is excellent and no specific treatment is required
• Humerus/femur  usually mid-shaft, occurring at breech deliveries, or fracture of the humerus at shoulder
dystocia  there is deformity, reduced movement of the limb and pain on movement  they heal rapidly
with immobilisation
STICKY EYE
• Common in the neonatal period  starting from the 3rd or 4th day  there is yellow discharge from the
corner of the eye and formation of a crust  this is sometimes when the very small tear ducts become
blocked by fluid and debris during birth
• Newborns struggle to produce tears in the first few months, so clearage of this blockage is hard for them
• Swabs are usually negative for significant pathogens  bacterial infections with either S.aureus, P.aeruginosa
or Streptococcal pathogens can occur
• Simple cleaning measures are usually sufficient  the eye should be bathed frequently with sterile water to
help clear it
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ABO/RHESUS INCOMPATIBILITY
Outline the basis of Rhesus and ABO incompatibility for the newborn, the risks to the newborn and have an
understanding of the management
RHESUS HAEMOLYTIC DISEASE
• Rhesus haemolytic disease  is a condition where antibodies in a pregnant woman's blood destroy her baby's
blood cells  it's also known as haemolytic disease of the foetus and newborn (HDFN)  Rhesus
disease doesn't harm the mother, but it can cause the baby to become anaemic and develop jaundice
• Infants are usually identified antenatally and monitored & treated if necessary  therefore the birth of a
severely affected infant, with anaemia, hydrops & hepatosplenomegaly with rapidly developing jaundice has
become rare
• Antibodies may develop to Rhesus antigens other than D and to the Kell & Duffy blood groups  but
haemolysis is usually less severe
• This condition occurs when a mother is Rhesus –ve and gives birth to a Rhesus +ve child  this sensitises her
to Rhesus antigen and the mother produces antibodies  if she gets pregnant with a Rhesus +ve child again,
then the IgG antibodies will attack the child  this can be avoided by anti-D Ig given in prenancy
ABO INCOMPATIBILITY
• ABO incompatibility  is a condition when the blood groups of mother and baby are not compatible  it is
now more common than Rhesus haemolytic disease
• Most ABO antibodies are IgM and do not cross the placenta  but some group O women have an IgG anti-A-
haemolysin in the blood, which can cross the placenta and haemolyse the RBCs of a group A infant 
occasionally, group B infants are affected by anti-B haemolysins
• Haemolysis can cause severe jaundice, but it is usually less severe than in Rhesus disease and usually peaks in
the first 12-72hrs  the infant’s haemoglobin level is usually normal or only slightly reduced, and in contrast
to Rhesus disease, hepatosplenomegaly is absent
• The direct antibody test (Coombs’ test) is positive  Coombs’s test demonstrates antibody on the surface of
RBCs
MANAGEMENT
• Diagnosis is by blood tests, biochemistry for jaundice and an antibody screen
• Treatment is similar for both ABO incompatibility and Rhesus disease  before birth, options include
intrauterine transfusion or early induction of labour when pulmonary maturity has been obtained
• Mothers themselves may also undergo plasma exchange to lower their circulating antibodies by 75%  in
Rhesus –ve mothers, anti-D can be given after the birth of a Rhesus +ve child to protect future infants
• After birth treatment depends on the severity of the condition  may simply involve treating the jaundice
with phototherapy  however, there may be cause for transfusion with RBCs and bicarbonate to correct an
acidosis
• Complications are to do with high bilirubin levels
Understand the importance of severe jaundice in the immediate newborn period, kernicterus and later
neurodevelopmental problems
• Jaundice is covered in its own section of these notes.
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CONGENITAL ABNORMALITIES
List important risk factors for congenital abnormalities and the importance of maternal health impacting on these
• A large number of congenital abnormalities are due to genetic conditions, which cannot be controlled by
health or by reducing other risk factors
• There are a huge number of risk factors for abnormalities, so it is impossible to list them all  however, a few
key risk factors include
o Maternal & parternal age
o Infections  TORCH – toxoplasmosis, others, rubella, CMV & HSV
o Toxins  eg. alcohol, smoking, mercury or prescription drugs
o Dietary deficiencies  eg. folic acid
Be able to describe the common features of the more common congenital conditions presenting in the newborn period
including: Down Syndrome (trisomy 21), CHARGE, VACTERAL
DOWN SYNDROME
• Down syndrome is trisomy 21 and is covered in its own section
CHARGE
• Charge is an acronym that describes a set of unusual congential features seen in many newborn children
o Coloboma  a hole in one of the eyes structures – eg. iris, retina, choroid or optic disc
o Heart defects
o Atresia of the nasal choanae
o Retarded growth & development
o Genitourinary abnormalities
o Ear abnormalities & hearing loss
• It is an autosomal dominant condition  the chromosome affect is 8q12 and gene CHD7
• This syndrome is the leading cause of congenital deafblindness  it is also worth noting that very few people
will have 100% of these features and the prevalence is around 1 in 10,000
VACTERAL
• VACTERAL is an acronym describing a syndrome (or an association) of birth defects
o Vertebral defects  hypoplastic vertebrae & scoliosis
o Anal atresia
o Cardiovascular abnormalities  ASD, VSD & Tetraology of Fallot
o Tracheoesophageal fistula
o Esophageal atresia
o Renal defect  usually one umbilical vein, which causes outflow obstruction, reflux & kidney failure
o Limb defects  hypoplastic thumbs, extra digits, fusion of digits
• It is thought to be genetic and is associated with trisomy 18 or more frequently with diabetic mothers
• Most of these babies will have normal development and intelligence, but can be quite small
• It has an incidence of 16 per 100,000 live births
Be aware of other conditions including Patau syndrome (trisomy 13), Edward Syndrome (Trisomy 18), fetal alcohol
syndrome, cleft lip and palate, neural tube defects
• Patau syndrome  trisomy 13  incidence is 1 in 14,000 live births  diagnosis is confirmed by
chromosome analysis, but most are detected via US in 2nd trimester  recurrence risk is low
Clinical features
o Structural defect of brain
o Scalp defects
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o Small eyes  microphthalmia
o Cleft lip & palate
o Polydactyly
o Cardiac & renal malformations
• Edward syndrome  trisomy 18  incidence is 1 in 8000 live births  diagnosis is confirmed by chromosome
analysis, but most are detected via US in 2nd trimester  recurrence risk is low
Clinical features
o Low birthweight
o Prominent occiput
o Small mouth & chin
o Short sternum
o Flexed, overlapping fingers
o ‘Rocker-bottom’ feet
o Cardiac & renal malformation
• Cleft lip & palate  may be unilateral or bilateral and results from the failure of fusion of the frontonasal and
maxillary processes  affects about 8 in 10,000 babies with most inherited polygenically, but they may be
part of syndrome of multiple abnormalities  some as associated with maternal anti-convulsant therapy 
usually repaired surgically in the first week of life
• Foetal alcohol syndrome  due to excessive alcohol ingestion during pregnancy  its clinical features
o Growth restriction
o Characteristic face
o Cardiac defects  up to 70%
• Neural tube defects  result from failure of normal fusion of the neural plate to form the neural tube during
the first 28 days following conception  prevalence is 11 in 10,000 live births, with folic acid supplementation
reduces the risk
o Anencephaly  this is a failure of development of most of the cranium & brain  affected infants are
stillborn or die shortly after birth  it is detected on antenatal US screening and termination of
pregnancy is usually performed
o Encephalocele  there is extrusion of brain and meninges through a midline skull defect, which can
be corrected surgically  however, there are often underlying associated cerebral malformations
o Spina bifida occulta  failure of fusion of the vertebral arch and is often an incidental finding on X-ray
 there may be an associated overlying skin lesions in the lumber region – eg. tuft of hair, lipoma,
birth mark or small dermal sinus  may be underlying tethering of the cord (diastematomyelia),
which with growth, may cause neurological deficits of bladder function and lower limbs  the extent
of the underlying lesion can be delineated using US and/or MRI scnas  neurosurgical relief of
tethering is usually indicated
o Meningocele  usually have a good prognosis following surgical repair
o Myelomeningoceles  may be associated with
▪ Variable paralysis of the legs
▪ Muscle imbalance, which may cause dislocation of the hip & talipes
▪ Sensory loss
▪ Bladder denervation  neuropathic bladder
▪ Bowel denervation  neuropathic bowel
▪ Scoliosis
▪ Hydrocephalus from the Chiari malformation leading to disruption of CSF flow  herniation
of the cerebellar tonsils & brainstem tissue through the foramen magnum
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Describe the common features of surgical congenital anomalies including gastroschisis, exomphalos and bowel atresia
• Gastroschisis  a congenital defect characterised by a defect in the anterior abdominal wall through which
the abdominal contents freely protrude  there is no overlying sac or peritoneum, and the size of the defect
is usually less than 4 centimetres
• Exomphalos  is a weakness of the abdominal wall where the umbilical cord joins it  this weakness allows
the abdominal contents, mainly the bowel and the liver to protrude outside the abdominal cavity where they
are contained in a loose sac that surrounds the umbilical cord
• Bowel atresia  is a malformation where there is a narrowing or absence of a portion of the intestine  this
defect can either occur in the small or large intestine
Have an awareness of the features of ambiguous genitalia and the management

• Ambiguous genitalia  is a rare condition where an infants external genitals are not clearly male or female
• With a male appearance and abnormalities of genitalia there may be
o Severe hypospadias with bifid scrotum
o Undescended testis/testes with hypospadias
o Bilateral non-palpable testes
• In an apparently female infant there may be
o Clitoral hypertrophy of any degree
o Non-palpable gonads
o Vulva with a single opening
• Management is very difficult as the parents & friends will want to know the sex of the baby, but it is vital not
to assign a gender until tests have been done  a discussion is needed with the paretns and birth registration
must be delayed
• It can be very difficult to decide on what sex to rear the child as, but female is often chosen as it is easier to
surgically construct the genitalia  there has been a move towards delaying definitive surgery to let the child
decide, but this is obviously has it psychological difficulties
Be aware of endocrine and metabolic disorders that can present in the newborn period including congenital adrenal
hyperplasia and inborn errors of metabolism associated with ambiguous genitalia
• The foetal gonad is initially bipotential  in the male, a testis determining gene on the Y chromosome (SRY) is
responsible for the differentiation of the gonad into a testis  the production of testosterone and its
metabolite dihydrotestosterone results in the development of male genitalia  in the absence of SRY the
gonads becomes ovaries and the female genitalia
• Rarely newborn infants may be born with a disorder of sexual differentiation and there may be uncertainty
about the infant’s sex
• A disorder of sexual differentiation may be secondary to:
o Excessive androgens producing virilisation in female  the commonest cause is congenital adrenal
hyperplasia
o Inadequate androgen actions producing under virilisation in males  this can result from an inability
to respond to androgens or to convert testosterone to dihydrotestosterone or abnormalities of the
synthesis of androgens from cholesterol
o Gonadotrophin insufficiency  also seen in several syndromes, such as Prader-Willi syndrome and
congenital hypopituitarism – which results in a small penis & cryptorchidism
o Ovotesticular disorder of sex development (DSD)  caused by XX & Y containing cells being present in
the foetus leading to both testicular and ovarian tissue being present and complex external
phenotype
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CONGENITAL ADRENAL HYPERPLASIA
• A number of autosomal recessive disorders of adrenal steroid biosynthesis result in congenital adrenal
hyperplasia
• Its incidence is about 1 in 5000 live births  it is commoner in the offspring of consanguineous marriages
• Over 90% have a deficiency in the enzyme 21-hydroxylase  which is needed for cortisol biosynthesis
• About 80% are unable to produce aldosterone  leading to low sodium and high potassium
• In the foetus, the resulting cortisol deficiency stimulates the pituitary to produce ACTH  which drives
overproduction of adrenal adrogens  this presents as
o Virilisation of the external genitalia in female infants  with clitoral hypertrophy and variable fusion
of the labia
o In the infant males, the penis may be enlarged and the scrotum pigmented, but these changes are
seldom indentified
o A salt-losing adrenal crisis in the 80% of males who are salt losers will occur at 1-3 weeks of age and
present with vomiting, weight loss, floppiness and circulatory collapse
o Tall stature in the 20% of male non-salt loser  both male and female non-salt losers also develop a
muscular build, adult body odour, pubic hair and acne from excess androgen production – leading to
precocious puberty
• There may be a family history of neonatal death if a salt losing crisis has not been recognised and treated 
diagnosis is made by finding markedly raised levels of the metabolic precursor 17 alpha-hydroxyprogesterone
in the blood
• In salt loser  the abnormalities are low sodium, high potassium, metabolic acidosis and hypoglycaemia
• Management  there may be a need for corrective surgery in females, but they have the structure to be able
to have children  in salt losing crisis – IV saline, dextrose & hydrocortisone are needed
• Long term management for both sexes
o Lifelong glucocorticoids to suppress ACTH levels and to allow normal growth & maturation
o Mineralocorticoids if there is salt loss
o Monitoring growth, skeletal maturity and plasma androgens  insufficient HRT will lead to increased
ACTH, rapid initial growth and stunted end height
o Hormones are needed for illness or surgery as the patient cannot mount a cortisol response
Briefly outline the impact of renal abnormalities on the developing fetus and newborn e.g. Potters syndrome
• Potter’s syndrome  is a term used to describe a typical physical appearance  which is the result of a
dramatically decreased amniotic fluid volume (oligohydramnios) secondary to renal diseases such as bilateral
renal agenesis (BRA)
• Intrauterine compression of the foetus from
oligohydramnios caused by lack of foetal urine causes
a characteristic facies, lung hypoplasia and postural
deformities including severe talipes  the infant may
be stillborn or die soon after birth from respiratory
failure
• Potter’s syndrome can also be due to
o Polycystic kidney disease
o Renal hypoplasia
o Obstructive uropathy
• The kidneys develop between weeks 5-7 with ongoing urine production from about week 14  amniotic fluid
is a dynamic product and foetal urine is a major contributor to its production from the 2nd trimester  foetal
swallowing recycles amniotic fluid
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• Any disease that impairs urine production causes oligohydramnios  whilst disease that impairs foetal
swallowing (eg. TOF or atresia) causes polyhydramnios
• Amniotic fluid is critical to pulmonary development  without it the consequences are pulmonary hypoplasia
and respiratory distress at birth
Understand the impact of the fetal environment its development in respect of hip and foot abnormalities in Potters
syndrome
• Potter phenotype may also lead to abnormal limbs, or limbs that are held in abnormal positions
or contractures
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HAEMOLYTIC DISEASE OF THE NEWBORN

Outline the common causes of haemolytic disease of the newborn
• The main causes of haemolytic anaemia in neonates are
o Immune  haemolytic disease of the newborn
o Red cell membrane disorders  hereditary spherocytosis
o Red cell enzyme disorders  glucose-6-phosphate dehydrogenase deficiency
o Abnormal haemoglobins  alpha-thalassaemia major
• Haemolytic disease of the newborn is an autoimmune condition that develops in a foetus  maternal IgG
pass through the placenta including some which attack RBCs in the foetal circulation leading to haemolysis 
foetus can develop reticulocytosis and anaemia
• When disease is moderate or severe, many erythroblasts can be found in the foetal blood  therefore the
condition is sometimes called erythroblastosis fetalis
• Condition occurs when the mother is sensitised towards the foetal RBCs
o Foetal-maternal haemorrhage  if similar incompatibility occurs in subsequent pregnancies (eg.
Rhesus D)
▪ Abortion
▪ Childbirth
▪ Rupture in placenta during pregnancy
▪ Medical procedures during pregnancy that breach the uterine wall
o Mother has received a therapeutic blood transfusion  ABO blood groups and Rh typing is routine
prior to transfusion to try to prevent this
o Mothers with type O blood group  more prone to make IgG anti-A & anti-B antibodies which can
cross the placenta
• The mother is always negative to the relevant antigen and the baby is always positive  the mother then
makes antibodies against the baby’s blood group and these antibodies cross the placenta into the baby’s
circulation
• The diagnostic clues to a haemolytic anaemia are an increased reticulocyte count and increased unconjugated
bilirubin  due to increased red cell production to compensate for the anaemia and increased red cell
destruction with release of this bile pigment into the plasma respectively
• The diagnostic clue to this type of haemolytic anaemia is a positive direct anti-globulin test (Coombs test) 
this test is only positive in antibody-mediated anaemias and so is negative in all the other types of haemolytic
anaemia
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HYPOXIC ISCHAEMIC ENCEPHALOPATHY (HIE)

Understand the risk factors for HIE, the key clinical features and management in terms of therapeutic hypothermia
• Clinical syndrome of brain injury secondary to a hypoxic-ischaemic insult
• In perinatal asphyxia  gas exchange (placental or pulmonary) is compromised or ceases altogether 
results in cardiorespiratory depression  causes hypoxia, hypercarbia and metabolic acidosis 
compromised cardiac output diminishes tissue perfusion causing hypoxic-ischaemic injury
• Aetiology  most cases follow a significant hypoxic event immediately before or during labour or delivery:
o Reduced umbilical blood flow  cord compression including cord prolapse and shoulder dystocia
o Reduced placental gas exchange  placental abruption, excessive/prolonged uterine contractions,
ruptured uterus
o Reduced maternal placental perfusion  IUGR
o Maternal hypoxia
o Compromised foetus  anaemia or IUGR
o Inadequate postnatal cardiopulmonary circulation  failure to breath
• Presentation varies depending on severity of cerebral hypoxia  an infant may have a range of symptoms
affecting
o Level of consciousness o Suck
o Muscle tone o Heart rate
o Posture o CNS homeostasis
o Tendon reflexes
• Clinical manifestations start immediately (<48hrs) after asphyxia  may be from primary neuronal death
(immediate) or reperfusion injury causing secondary neuronal death (delayed)
o Mild  infant is irritable, responds excessively to stimulation, may have staring of eyes and
hyperventilation and has impaired feeding
o Moderate  infant shows marked abnormalities of tone and movement, cannot feed and may have
seizures
o Severe  there are no normal spontaneous movements or response to pain, tone in limbs may
fluctuate between hypo & hypertonia, seizures are prolonged and often refractory to treatment and
multi-organ failure is present
• Before concluding that an infant has HIE secondary to an intrapartum hypoxic-ischaemic event, it is important
to assess for evidence of an intrapartum problem  there should be respiratory depression at birth and a
need for resuscitation, including IPPV  there should be moderate-severe acidosis soon after birth (pH <7)
and should develop encephalopathy within 24hrs of birth
• Infants with HIE may need
o Respiratory support
o Recording of amplitude-integrated EEG to detect abnormal background activity to confirm early
encephalopathy or identify seizures
o Treatment of clinical seizures with anti-convulsants
o Fluid restriction because of transient renal impairment
o Treatment of hypotension by volume and inotrope support
o Monitoring and treatment of hypoglycaemia and electrolyte imbalance, especially hypocalcaemia
THERAPEUTIC HYPOTHERMIA
• Criteria for therapeutic hypothermia  If A & B are met, then assess for C
A. Infants >36/40 and >1800g and <6hrs old with
o Apgar <5 or continued need for resuscitation at 10min
o Acidosis  cord pH <7/BE<-16
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B. Moderate or severe encephalopathy  altered level of conscious and one of:
o Hypotonia
o Abnormal reflexes  eg. moro, suck, gag, papillary, oculovestibular
o Clinical seizures
C. At least 30min of CFAM recording which shows either abnormal background activity or seizures (clinical or
electrical)
• Therapeutic hypothermia is now the standard care for term infants with moderate/severe hypopoxic
ischaemia encephalopathy  cooling is achieved using a temperature controlled mattress or wrap
• Eligible infants have their temperature lowered to 33-34oC within 6hr of insult  hypothermia is maintained
for 72hrs before gradual re-warming
Appreciate the long term neurodevelopment risks of HIE

• Mild HIE  complete recovery is expected
• Moderate HIE  those who have recovered fully on clinical neurological examination and are feeding
normally by 2 weeks have an excellent long-term prognosis  if clinical abnormalities persist beyond that
time then full recovery is unlikely
• Severe HIE  has a mortality of 30-40%  80% survivors have neurodevelopmental disabilities particularly
cerebral palsy
• If MRI at 4-14 days in term infant shows significant abnormalities there is a very high risk of later cerebral
palsy  bilateral abnormalities in the basal ganglia & thalamus and lack of myelin in the posterior limb of the
internal capsule
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Nephrology & Genitourinary CP2 Learning Objectives Child Health
NEPHROLOGY & GENITOURINARY

ACUTE NEPHRITIS
Outline the aetiology, clinical features and management.
• Acute nephritis is caused by an increased glomerular cellularity restricting glomerular blood flow and
therefore filtration is decreased  causes include
o Post-infectious  including streptococcus
o Vasculitis
▪ Henoch–Schönlein purpura
▪ SLE
▪ Wegener granulomatosis
▪ Microscopic polyarteritis
▪ Polyarteritis nodosa
o IgA nephropathy and mesangiocapillary glomerulonephritis
o Anti-glomerular basement membrane disease (Goodpasture syndrome)  very rare
o Decreased urine output and volume overload  oliguria
o Hypertension  which may cause seizures
o Oedema  characteristically around the eyes
o Haematuria & proteinuria
• Management is by attention to both water and electrolyte balance and the use of diuretics when necessary 
rarely, there may be a rapid deterioration in renal function (rapidly progressive glomerulonephritis)  this
may occur with any cause of acute nephritis, but is uncommon when the cause is post-streptococcal  if left
untreated, irreversible renal failure may occur over weeks or months, so renal biopsy and subsequent
treatment with immunosuppression and plasma exchange may be necessary
• Prognosis  0.5% mortality  <5% long term abnormailiteis in renal function  prognosis worse if acute
presentation of chronic nephritis
HENOCH-SCHONLEIN PURPURA
• Henoch-Schonelein purpura is the combination of the following features
o Characteristic rash  buttocks, extensor surfaces of legs & arms and ankles
o Arthralgia  joint pain – knees and ankles
o Periarticular oedema  joint swelling – knees and ankles
o Abdominal pain  haematemesis & melaena and intussuception
o Glomerulonephritis  microscopic/macroscopic haematuria (80%) and nephrotic syndrome (rare)
• It usually occurs between the ages of 3-10 years  it is twice as common in boys  peaks during the winter
months  it is often preceded by an URTI
• The cause is unknown  it is postulated that genetic predisposition and antigen exposure increase circulating
IgA levels and disrupt IgG synthesis  the IgA & IgG interact to produce complexes that activate complement
and are deposited in affected organs  precipitating an inflammatory response with vasculitis
• At presentation  affected children often have a fever  the rash is the most obvious features, as it is
symmetrically distributed over the buttocks, the extensor of the arms & legs and the ankles  the trunk is
spared unless lesions are induced by trauma  the rash may initially be urticarial, rapidly becoming
maculopapular and purpuric  it is characteristically palpable and may recur over several weeks  it is the
first clinical feature in about 50% and is the cornerstone of the diagnosis
• Joint pain  occurs in 2 in 3 of patients, particularly in the knees and ankles  there is periarticular oedema
 long term damage to the joints does not occur and symptoms usually resolve before the rash goes
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• Colicky abdominal pain  occurs in many children and can be treated with corticosteroids (severe)  GI
petechiae can cause haematemesis and melaena  intussusception can occur and can be particularly difficult
to diagnose under these circumstances  ileus, protein-losing enteropathy, orchitis and occasionally CNS
involvement are rare complications
• Renal involvement  common, but rarely the first symptom  over 80% have microscopic or macroscopic
haematuria or mild proteinuria  these children usually make a complete recovery
Be aware of the long term complications of HSP

• If proteinuria is more severe then nephrotic syndrome may result
• Risk factors for progressive renal disease are  renal biopsy will determine if treatment is necessary
o Heavy proteinuria
o Oedema
o Hypertension
o Deteriorating renal function
• All children with renal involvement will be followed for a year to detect those with persisting urinary
abnormalities (5-10%)  who require long term follow up  this is necessary as hypertension and declining
renal function may develop after an interval of several years
Outline the management plan of patients with HSP including follow-up for detection of HSP nephritis
• The management has been described above along with long term follow up for severe renal involvement
• Less than 1% of patients with HSP progress to end stage renal failure  but prognosis is worse in older
children  if urinalysis is normal then follow up for six months
Name the most common cause of acute glomerulonephritis in childhood.

POST-STREPTOCOCCAL & POST-INFECTIOUS NEPHRITIS
• Usually follows a streptococcal sore throat or skin infection  is diagnosed by evidence of a recent
streptococcal infection (organism culture, raised ASO/anti-DNAse B titres) and low complement C3 levels 
that return to normal after 3-4 weeks
• Streptococcal nephritis is a common condition in developing countries  but has become uncommon in
developed countries
• Long-term prognosis is good
FAMILIAL NEPHRITIS
• The commonest familial nephritis is Alport syndrome  this is usually an X-linked recessive disorder that
progresses to end-stage renal failure by early adult life in males
• It is associated with nerve deafness and ocular defects
• The mother may have haematuria
VASCULITIS
• The commonest vasculitis to involve the kidney is Henoch-Schonlein purpura  however, renal involvement
may occur in rarer vasculitides  such as polyarteritis nodosa, microscopic polyarteritis and Wegener
granulomatosis
• Characteristic symptoms are
o Fever
o Malaise
o Weight loss
o Skin rash
179
o Arthropathy
• NB – prominent involvement of the respiratory tract in Wegener disease
• ANCA (anti-neutrophil cytoplasm antibodies) are present and diagnostic in these diseases  renal
arteriography can also be used to demonstate the presence of aneurysms, which will diagnose polyarteritis
nodosa
• Renal involvement may be severe and rapidly progressive
• Treatment  is with steroids, plasma exchange and IV cyclophosphamide  which may need to be continued
for many months
SYSTEMIC LUPUS ERYTHEMATOSUS (SLE)

• SLE is a disease that presents mainly in adolescent girls and young women  it is much commoner in Asians &
Afro-Caribbeans than Caucasians
• It is characterised by the presence of multiple autoantibodies  including antibodies to double-stranded DNA
 the C3 &C4 components of complement may be low, particularly during active phases of the disease
• Haematuria and proteinuria are indications for renal biopsy  as immunosuppression is always necessary and
its intensity will depend on the severity of renal involvement
List the initial investigations in patients presenting with acute Glomerulonephritis .

• Initial investigations should include:
o Electrolytes and creatinine  to assess renal function  
o FBC  infection, anaemia  
o Urinalysis  infection, protein, blood  
o Urine culture  infection  
o Complement levels  
o ASO titre  
o Anti-DNAase B  
o Serum IgA measurement
• If the child has a history consistent with acute post-streptococcal glomerulonephritis, low C3 and positive ASO
and Anti-DNAase B is enough to provide a provisional diagnosis  if this seems unlikely then a renal biopsy is
the single most effective mechanism to get a diagnosis
• Renal ultrasonography is usually performed to exclude other causes of hypertension and haematuria.  
Be aware that IGA nephropathy shares the histopathological features of HSP nephritis
• This may present with episodes of macroscopic haematuria  commonly in association with upper
respiratory tract infections
• Histological findings and management are as for Henoch–Schönlein purpura  which may be a variant of the
same pathological process but not restricted to the kidney
• The prognosis in children is better than that in adults
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NEPHROTIC SYNDROME
Know the aetiology, incidence and presenting features of childhood nephrotic syndrome
• In nephrotic syndrome  heavy proteinuria results in a low plasma albumin and oedema
• The cause of the condition is unknown  but a few cases are secondary to systemic diseases  such as
Henoch–Schönlein purpura (HSP) and other vasculitides, e.g. systemic lupus erythematosus (SLE), infections
(e.g. malaria) or allergens (e.g. bee sting)
• Clinical signs of the nephrotic syndrome are
o Periorbital oedema  particularly on waking  the earliest sign
o Scrotal or vulval, leg & ankle oedema
o Ascites
o Breathlessness  due to pleural effusions and abdominal distension
o Cloudy/frothy urine
• Definition
o Proteinuira >200mg protein/mmol creatinine
o Serum albumin >25
o Oedema
o Hypercholesterolaemia
• Rare in childhood (1 in 50000 per year)  median age of onset (2.5yrs)  80% <6yrs of age  boys > girls
Name the most common type in childhood (i.e. minimal change disease)
STEROID-SENSITIVE NEPHROTIC SYNDROME
• In 85–90% of children with nephrotic syndrome  the proteinuria resolves with corticosteroid therapy
(steroid-sensitive nephrotic syndrome)  these children do not progress to renal failure
• It is commoner in boys than in girls  in Asian children than in Caucasians  there is a weak association with
atopy  it is often precipitated by respiratory infections
• Features suggesting steroid-sensitive nephrotic syndrome are:
o Age between 1 and 10 years
o No macroscopic haematuria
o Normal blood pressure
o Normal complement levels
o Normal renal function
• The child with nephrotic syndrome is susceptible to several serious complications at presentation or relapse:
o Hypovolaemia  during the initial phase of oedema formation the intravascular compartment may
become volume depleted  the child who becomes hypovolaemic characteristically complains of
abdominal pain and may feel faint  there is peripheral vasoconstriction and urinary sodium
retention  a low urinary sodium (<20 mmol/L) and a high packed cell volume of red blood cells are
indications of hypovolaemia, which requires urgent treatment with intravenous albumin as the child is
at risk of vascular thrombosis and shock  increasing peripheral oedema, assessed clinically and by
daily weight, may cause discomfort and respiratory compromise  if severe, this may need treatment
with intravenous albumin  care must be taken with the use of colloid, as it may precipitate
pulmonary oedema and hypertension from fluid overload, and also with diuretics, which may cause or
worsen hypovolaemia.
o Thrombosis  a hypercoagulable state, due to urinary losses of antithrombin, thrombocytosis which
may be exacerbated by steroid therapy, increased synthesis of clotting factors and increased blood
viscosity from the raised haematocrit, predisposes to thrombosis  his may affect the brain, limbs
and splanchnic circulation with potentially catastrophic results
181
o Infection  children in relapse are at risk of infection with capsulated bacteria, especially
Pneumococcus  spontaneous peritonitis may occur  [neumococcal and seasonal influenza
vaccination is widely recommended  chickenpox and shingles should be treated with aciclovir
o Hypercholesterolaemia  this correlates inversely with the serum albumin, but the cause of the
hyperlipidaemia is not fully understood
MANAGEMENT
• The most widely used protocol is to initially give oral corticosteroids (60 mg/m2 per day of prednisolone) 
unless there are atypical features  after 4 weeks, the dose is reduced to 40 mg/m2 on alternate days for 4
weeks and then stopped
• The median time for the urine to become free of protein is 11 days  however, there is now good evidence
that extending the initial course of steroids, by gradually tapering the alternate day part of the course, leads
to a marked reduction in the proportion of children who develop a frequently relapsing or steroid-dependent
course  this scheme is increasingly being adopted
PROGNOSIS
• Relapses are identified by parents on urine testing
• The side-effects of corticosteroid therapy may be reduced by an
alternate-day regimen
• If relapses are frequent, or if a high maintenance dose is
required  involvement of a paediatric nephrologist is
advisable as other drug therapy may be considered to enable
reduction in steroid use
• Possible steroid-sparing agents include
o Immunomodulator levamisole
o Alkylating agents  e.g. cyclophosphamide
o Calcineurin inhibitors  e.g. tacrolimus and ciclosporin A
o Immunosuppressant  mycophenolate mofetil
STEROID-RESISTANT NEPHROTIC SYNDROME
• These children should be referred to a paediatric nephrologist

• Management of the oedema is by
o Diuretic therapy
o Salt restriction
o ACE inhibitors
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o NSAIDs (non-steroidal anti-inflammatory drugs), which may reduce proteinuria
CONGENITAL NEPHROTIC SYNDROME

• Congenital nephrotic syndrome presents in the first 3 months of life
• It is rare, but the commonest kind is recessively inherited and the gene frequency is particularly high in Finns
 in the UK, it is more common in consanguineous families
• It is associated with a high mortality  usually due to complications of hypoalbuminaemia rather than renal
failure  the albuminuria is so severe that unilateral nephrectomy may be necessary for its control, followed
by dialysis for renal failure, which is continued until the child is large and fit enough for renal transplantation.
Outline the initial management of children who present with nephrotic syndrome.
• Fluid management  fluid overloaded, but can be in shock
o Fluid restriction
o Diuretics
o Albumin infusions  can cause fluid overload
• Treating underlying disease  Prednisolone and other immunosuppressants
• Management of complications
o Infections
o Thrombosis  intravascular depletion or reduced clotting factors
o Side effects of treatment
o Renal failure
Be aware of the atypical features which would prompt consideration of second line treatment and/or a renal biopsy
• Children who do not respond to 4–8 weeks of corticosteroid therapy or have atypical features may have a
more complex diagnosis and require a renal biopsy
• Renal histology in steroid-sensitive nephrotic syndrome is usually normal on light microscopy  but fusion of
the specialised epithelial cells that invest the glomerular capillaries (podocytes) is seen on electron
microscopy
• For this reason  it is called minimal change disease.
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URINARY TRACT INFECTION (UTI)

Know the incidence and common organisms which cause childhood UTI
• About 3–7% of girls and 1–2% of boys have at least one symptomatic urinary tract infection (UTI) before the
age of 6 years  12–30% of them have a recurrence within a year
• UTI may involve the kidneys (pyelonephritis) – when it is usually associated with fever and systemic
involvement  or may be due to cystitis – when there may be no fever
• UTI in childhood is important because:
o up to half of patients have a structural abnormality of their urinary tract
o pyelonephritis may damage the growing kidney by forming a scar  predisposing to hypertension
and to chronic renal failure if the scarring is bilateral
• UTI is usually the result of bowel flora entering the urinary tract via the urethra  except in the newborn
when it is more likely to be haematogenous
• The commonest organism is E. coli  followed by Klebsiella, Proteus & Pseudomonas and Strep. Faecalis
• Proteus infection is more commonly diagnosed in boys than in girls  possibly because of its presence under
the prepuce  Proteus infection predisposes to the formation of phosphate stones by splitting urea to
ammonia and thus alkalinising the urine
• Pseudomonas infection may indicate the presence of some structural abnormality in the urinary tract
affecting drainage
Reach a differential diagnosis for children presenting with haematuria

• Urinary tract infection • Trauma
o Bacterial • Other renal tract pathology
o Viral  eg adenovirus in outbreaks o Renal tract tumour
o Schistosomiasis  history of foreign o Polycystic kidney disease
travel • Vascular
o Tuberculosis o Renal vein thrombosis
• Glomerular o Arteries
o Post-infectious glomerulonephritis • Haematological  coagulopathy/sickle cell
o Henoch-Schonlein purpura IgA disease
nephropathy, SLE • Drugs  cyclophosphamide
o Hereditary  thin basement • Exercise-induced
membrane, Alport syndrome
• Urinary tract stones  eg. due to
hypercalciuria
List the presenting features of UTI in infants, preverbal children and verbal children
184
• In infants the symptoms are non- specific  fever is usually but not always present  septicaemia may
develop rapidly
• The classical symptoms of dysuria, frequency and loin pain become more common with increasing age 
dysuria alone is usually due to cystitis, or vulvitis in girls or Balanitis in uncircumcised boys
• A UTI may also occur following sexual abuse
• Presentation of an infant: • Presentation of a child:  
o Fever   o Dysuria and frequency  
o Vomiting   o Abdominal pain or loin tenderness  
o Lethargy and irritability   o Fever with or without rigors
o Poor feeding/failure to thrive   (exaggerated shivering)  
o Jaundice   o Lethargy and anorexia  
o Septicaemia   o Vomiting and diarrhoea  
o Offensive urine   o Haematuria  
o Febrile convulsion (>6 months) o Offensive/cloudy urine  
o Febrile convulsion  
o Recurrence of enuresis
Know methods of collecting urine i.e. clean catch urine, bag urine, catheter specimen and suprapubic aspirate and be
aware of some of the advantages and disadvantages of each method.
• The commonest error in the management of UTI in children, and especially in infants, is failure to establish
the diagnosis properly in the first place  if the diagnosis of a UTI is not made, the opportunity to prevent
renal damage may be missed, or, if incorrectly diagnosed, may lead to unnecessary invasive investigations.
• For the child in nappies, urine can be collected by:
o A ‘clean-catch’ sample into a waiting clean pot when the nappy is removed. This is the recommended
method
o An adhesive plastic bag applied to the perineum after careful washing, although there may be
contamination from the skin
o A urethral catheter if there is urgency in obtaining a sample and no urine has been passed
o Suprapubic aspiration (SPA), when a fine needle attached to a syringe is inserted directly into the
bladder just above the symphysis pubis under ultrasound guidance  it may be used in severely ill
infants requiring urgent diagnosis and treatment, but it is an invasive procedure, and is increasingly
replaced by urethral catheter sampling.
• In the older child, urine can be obtained by collecting a midstream sample  careful cleaning and collection
are necessary, as contamination with both white cells and bacteria can occur from under the foreskin in boys,
and from reflux of urine into the vagina during voiding in girls.
• Ideally, the urine sample should be microscoped to identify organisms and cultured straight away  this is
indicated in all infants and children <3 years old with a suspected UTI  if this is not possible, the urine
sample should be refrigerated to prevent the overgrowth of contaminating bacteria
• Urinary white cells are not a reliable feature of a UTI, as they may lyse during storage and may be present in
febrile children without a UTI and in children with balanitis or Vulvovaginitis  dipsticks can be used as a
screening test
• Urine culture should still be performed unless both leucocyte esterase and nitrite are negative or if the clinical
symptoms and dipstick tests do not correlate
• A bacterial culture of >105 colony-forming units of a single organism per millilitre in a properly collected
specimen gives a 90% probability of infection  if the same result is found in a second sample, the probability
rises to 95%
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• A growth of mixed organisms usually represents contamination  but if there is doubt, another sample
should be collected
• Any bacterial growth of a single organism per millilitre in a catheter sample or suprapubic aspirate is
considered diagnostic of infection.
List the criteria for diagnosis of UTI based on urine dipstick and urine culture.
Know the definition of atypical UTI and recurrent UTI as stated in the NICE guideline CG54 (Childhood UTI) and outline
the investigation schedule based on these definitions
• Atypical UTI  
o Seriously ill  
o Poor urine flow  
o Abdominal or bladder mass  
o Raised creatinine  
o Septicaemia  
o Failure to respond to suitable antibiotics within 48 hours  
o Infected with non-E.coli organisms
• Recurrent UTI  
o Two or more episodes of UTI with acute pyelonephritis/upper urinary tract infection  
o One episode of UTI with acute pyelonephritis/upper urinary tract infection plus one or more episodes
of UTI with cystitis/lower urinary tract infection  
o Three or more episodes of UTI with cystitis/lower urinary tract infection  NICE recommends
guidelines for investigations for both atypical and recurrent UTIs but they are divided into the age
ranges of <6 months, 6 months to 3 years and >3 years
• <6 months  
o Atypical  ultrasound during acute infection, DMSA (a  radionucleotide scan to assess renal
function) 4-6 months following  acute infection and MCUG (micturating cystourethrogram)  
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o Recurrent  same as above  
o Responding to treatment  ultrasound within 6 weeks
• 6 months – 3 years
o Atypical  ultrasound during acute infection and DMSA 4-6 months  following acute infection  
o Recurrent  ultrasound within 6 weeks and DMSA  
o Responding  none
• >3 years
o Atypical  ultrasound during acute infection  
o Recurrent  ultrasound within 6 weeks and DMSA  
o Responding  none  
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URETERIC PROBLEMS
Know the incidence of Vesicoureteric Reflux (VUR) in the general population and in children who present with a UTI
• Vesicoureteric reflux is a developmental anomaly of the vesicoureteric junction  the ureters are displaced
laterally and enter directly into the bladder rather than at an angle  with a shortened or absent intramural
course  severe cases can be associated with renal dysplasia
• It is familial with a 30-50% chance of occurring in first degree relatives  it may occur with other bladder
pathology or temporarily after a UTI
• Its severity can vary from reflux into the lower end of an undilated ureter during micturation to reflux during
bladder filling and voiding with distended ureters, renal pelvis and clubbed calyces
• Mild reflux is unlikely to be significant  but severe VUR can be associated with intrarenal reflux and renal
scarring
• Reflux tends to resolve with age, especially with the milder grades  but reflux with associated ureter
dilatation is important as:  
o Urine returning to the bladder encourages infection  
o The kidneys may become infected  
o Bladder voiding pressure is transmitted to the renal papillae
• VUR in healthy neonates is reported at less than 1%  but this may be a gross underestimation because no
large population studies have been done
• VUR is ten times as common in white children compared to black children and children with red hair have an
increased risk  it is also 5-6 times more common in females  he incidence is much higher in infants with
febrile UTIs (30-70%)
Outline diagnostic tests for VUR

• Laboratory studies would first be done to rule out a UTI
• Serum creatinine and electrolytes will also be checked to assess renal function and antenatal hydronephrosis
• The main tests are radiological  with the main suggested tests being
o VCUG  voiding cystourethrogram  main test
o A renal bladder ultrasonography
o DMSA  nuclear medicine  estimates of differential function, but not overall function  as well as
renal parenchymal defect and scar
• Micturating cystourethrogram  involves urinary catherisation and the administration of radiocontrast
medium into the bladder  reflux is detected on voiding
o Advantage  grade of reflux seen
o Disadvantage  requires bladder catherisation and radiation dose
• Indirect cystogram  a radionucleotide method  includes MAG-3 and DTPA scans
o Advantage  no catherisation required and lower radiation dose
o Disadvantage  false negative found  co-operation of child to void is needed
• The aims of treatment are to prevent progressive renal scarring  prophylactic antibiotics may be used to
prevent this and imaging by indirect cystogram and DMSA are sometimes used for follow uo
• Surgery can reduce the incidence of pyelonephritis, but there is no difference in scarring compared with
medical treatment (antibiotics)
Define pyelonephritis and cystitis as stated in the NICE guideline CG54 (Childhood UTI)
• Pyelonephritis  a bacterial infection of the upper urinary tract causing inflammation of the kidney(s)
• Cystitis  inflammation of the bladder
Be aware of the treatment of Pyelonephritis
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• For infants and children 3 months or older with acute pyelonephritis/upper urinary tract infection:
o Consider referral to a paediatric specialist  
o Treat with oral antibiotics for 7-10 days  the use of antibiotics with low resistance patterns is
recommended  i.e. cephalosporin and co-amoxiclav  
o If oral antibiotics cannot be used, treat with IV antibiotics  such as cefotaxime or ceftriaxone for 2-4
days followed by oral antibiotics for a total duration of 10 days  
• For infants and children 3 months or older with cystitis/lower urinary tract infection:
o Treat with oral antibiotics for 3 days  i.e. trimethoprim, nitrofurantoin, cephalosporin or amoxicillin
o The parents or carers should be advised to bring the infant or child for reassessment if the infant or
child is still unwell after 24-48 hours  if an alternative diagnosis is not made, a urine sample should
be sent for culture to identify the presence of bacteria and determine antibiotic sensitivity if urine
culture has not already been carried out
o Antibiotic prophylaxis should not be routinely recommended in infants and children following first-
time UTI.  
Understand that Vulvovaginitis is common in young girls and the initial steps in management.
• Vulvovaginitis and vaginal discharge are common in young girls  they may result from
o Infection  bacterial or fungal
o Specific irritants
o Poor hygiene
o Sexual abuse
• Although none of these factors is present in most cases  vulvovaginitis may rarely be associated with
threadworm infestation
• Parents should be advised about hygiene, the avoidance of bubble bath and scented soaps and the use of
loose-fitting cotton underwear
• Swabs should be taken to identify any pathogens, which can then be specifically treated  salt baths may be
helpful
• Oestrogen cream applied sparingly to the vulva may relieve the problem in resistant cases by increasing
vaginal resistance to infection as prepubertal tissues tend to be atrophic
• If there are any concerns about sexual abuse, the child must be seen by a paediatrician
• Rarely, if the vaginal discharge is persistent or purulent  examination under anaesthesia may be needed to
exclude a vaginal foreign body or unusual infections
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ACUTE KIDNEY INJURY

Know the presenting features of acute kidney injury (AKI) in childhood
• Acute kidney injury has acute renal failure at the most severe end of the spectrum  where there is a
sudden, potentially reversible, reduction in renal function  oliguria (<0.5 ml/kg per hour) is usually present
• AKI is a sudden reduction in glomerular filtration rate resulting in an increase in blood concentration of urea &
creatinine and disturbed fluid & electrolyte haemostasis
• It can be classified as:
o Prerenal  the commonest cause in children
o Renal  there is salt and water retention; blood, protein and casts are often present in the urine; and
there may be symptoms speci c to an accompanying disease (e.g. haemolytic uraemic syndrome)
o Postrenal  from urinary obstruction.
• Acute-on-chronic renal failure is suggested by the child having growth failure, anaemia and disordered bone
mineralisation (renal osteodystrophy)
Understand the need for a multi-disciplinary and multi-professional team in the management of children with AKI.
• Children with acute renal failure should have their circulation and fluid balance meticulously monitored
• Investigation by ultrasound scan will identify obstruction of the urinary tract, the small kidneys of chronic
renal failure, or large, bright kidneys with loss of cortical medullary differentiation typical of an acute process
PRERENAL FAILURE
• Prerenal failure is suggested by hypovolaemia  the fractional excretion of sodium is very low as the body
tries to retain fluid
• The hypovolaemia needs to be urgently corrected with fluid replacement and circulatory support if acute
tubular necrosis is to be avoided
RENAL FAILURE
• If there is circulatory overload  restriction of fluid intake and challenge with a diuretic may increase urine
output sufficiently to allow gradual correction of sodium and water balance
• A high-calorie, normal protein feed will decrease catabolism, uraemia and hyperkalaemia
• Emergency management of metabolic acidosis, hyperkalaemia and hyperphosphataemia is important
• If the cause of renal failure is not obvious  a renal biopsy should be performed to identify rapidly
progressive glomerulonephritis  as this may need immediate treatment with immunosuppression
• The two commonest renal causes of acute renal failure in children in the UK are
o Haemolytic uraemic syndrome
o Acute tubular necrosis  usually in the setting of multisystem failure in the ICU or following cardiac
surgery
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POSTRENAL FAILURE
• This requires assessment of the site of obstruction and relief by nephrostomy or bladder catheterisation
• Surgery can be performed once fluid volume and electrolyte abnormalities have been corrected
CHRONIC KIDNEY DISEASE

List the 5 stages of chronic kidney disease (CKD)
• Chronic renal failure  with GFR <15ml/min per 1.73m2  is much less common in children than in adults 
with an incidence of only 10 per million of the child population each year
• Congenital and familial causes are far more common in childhood than acquired disease
• Causes of CKD
o Structural malformation  40%
o Glomerulonephritis  25%
o Hereditary nephropathies  20%
o Systemic disease  10%
o Miscellanoeus/unknown  5%
• Stages of CKD
o Stage 1: normal GFR>90 mL/min per 1.73m2 and persistent albuminuria
o Stage 2: GFR 60-89 mL/min per 1.73m2 and persistent albuminuria
o Stage 3: GFR 30-59 mL/min per 1.73m2 
o Stage 4: GFR 15-30 mL/min per 1.73m2
o Stage 5: GFR <15 mL/min per 1.73m2 or end stage renal disease
• Clinical features will vary with stage but can include:
o Anorexia or lethargy  
o Polydipsia and polyuria  
o Failure to thrive/grow  
o Bone deformities  
o Hypertension  
o Acute-on-chronic renal failure  
o Proteinuria  
o Normochromic, normocytic anaemia  
• Many children with chronic renal failure have had their renal disease detected before birth by antenatal US or
have previously identified renal disease  symptoms rarely develop before renal function falls to less than
1/3 of normal
Understand the need for a multi-disciplinary and multi-professional team in the management of children with CKD
• The aims of management are to prevent the symptoms and metabolic abnormalities of chronic renal failure to
o Allow normal growth and development
o Preserve residual renal function
• The management of these children should be conducted in a specialist paediatric nephrology centre
DIET
• Anorexia and vomiting are common  improving nutrition using calorie supplements and nasogastric or
gastrostomy feeding is often necessary to optimise growth
• Protein intake should be sufficient to maintain growth and a normal albumin, whilst preventing the
accumulation of toxic metabolic by products
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PREVENTION OF RENAL OSTEODYSTROPHY

• Phosphate retention and hypocalcaemia due to decreased activation of vitamin D leads to secondary
hyperparathyroidism  which results in osteitis fibrosis and osteomalacia
• Phosphate restriction be decreasing the dietary intake of milk products, calcium carbonate as a phosphate
binder and activated vitamin D supplements help to prevent renal osteodystrophy
CONTROL OF SALT & WATER BALANCE AND ACIDOSIS

• Many children with chronic renal failure caused by congenital structural malformations and renal dysplasia
have an obligatory loss of salt and water  they need salt supplements and free access to water
• Treatment with bicarbonate supplements is necessary to prevent acidosis
ANAEMIA
• Reduced production of EPO and circulation of metabolites that are toxic to the bone marrow result in
anaemia  this responds well to the administration of recombinant human EPO
HORMONAL ABNORMALITIES
• Many hormonal abnormalities occur in CKD  most importantly, there is growth hormone resistance with
high growth hormone levels, but poor growth
• Recombinant human growth hormone has been shown to be effective in improving growth for up to 5yrs of
treatment  but whether it improves final height remains unknown
• Many children with chronic renal failure have delayed puberty and a subnormal pubertal growth spurt
DIALYSIS AND TRANSPLANTATION

• It is now possible for all children to enter renal replacement therapy programmes when end-stage renal
failure is reached  the optimum management is by renal transplantation
• This is difficult in very small children and a minimum weight (10kg) needs to be reached before
transplantation to avoid renal vein thrombosis  kidneys obtained from living related donors have a higher
success rate than deceased donor kidneys, which are matched as far as possible to the recipient’s HLA type 
patient survival is high and 1st year graft survival is around 97% for living related and 93% for deceased
kidneys in the UK
• Graft losses from both acute and chronic rejection or recurrent disease mean that the 5yr graft survival is
reduced to 91% for living related kidneys and 79% for deceased donor kidney transplants and some children
need re-transplantation
• Current immunosuppression is mainly with combinations of prednisolone, tacrolimus and azathrioprine or
mycophenolate mofetil
• Ideally, a child is transplanted before dialysis is required  but if this is not possible, a period of dialysis may
be necessary
• Peritoneal dialysis  either by cycling overnight using a machine (continuous cycling peritoneal dialysis) or by
manual exchanges over 24 h (continuous ambulatory peritoneal dialysis)  can be done by the parents at
home and is therefore less disruptive to family life and the child’s schooling
• Haemodialysis is an alternative and is usually done in hospital 3–4 times a week
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HAEMOLYTIC URAEMIC SYNDROME

Name the most common causative organism of childhood, diarrhoea associated HUS
• Haemolytic uraemic syndrome (HUS)  is a triad of acute renal failure, microangiopathic haemolytic anaemia
and thrombocytopenia
• Typical HUS is secondary to gastrointestinal infection with verocytotoxin-producing E. coli  acquired through
contact with farm animals or eating uncooked beef, or, less often, Shigella
• It follows a prodrome of bloody diarrhoea  the toxin from these organisms enters the gastrointestinal
mucosa and preferentially localises to the endothelial cells of the kidney  where it causes intravascular
thrombogenesis
• Coagulation cascade is activated and clotting is  platelets are consumed in this process and
microangiopathic haemolytic anaemia results from damage to red blood cells as they circulate through the
microcirculation  which is occluded
• Other organs such as the brain, pancreas and heart may also be involved.
List the triad of abnormalities which define HUS

• Haemolytic uraemic syndrome (HUS)  the triad of
o Acute renal failure
o Haemolytic anaemia
o Thrombocytopenia
Appreciate the difference between diarrhoea associated and non-diarrhoea associated HUS and the implications for
prognosis
• With early supportive therapy, including dialysis  the typical diarrhoea-associated HUS usually has a good
prognosis  although follow-up is necessary as there may be persistent proteinuria and the development of
hypertension and declining renal function in subsequent years
• In contrast, atypical HUS has no diarrhoeal prodrome may be familial and frequently relapses  it has a
high risk of hypertension and chronic renal failure and has a high mortality
• Children with intracerebral involvement or with atypical HUS may be treated with plasma exchange or plasma
infusions, but their efficacy is unproven
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HYPERTENSION
Understand the importance of blood pressure centiles in children
• Blood pressure in children needs to be measured with a cuff over two-thirds of the length of the upper arm
• Blood pressure increases with age and height  readings should be plotted on a centile chart
• Hypertension is blood pressure above 95th percentile for height, age & sex
Be aware of the common causes of hypertension in children

• Symptomatic hypertension in children is usually secondary to renal, cardiac or endocrine causes
• Causes of hypertension
o Renal
▪ Renal parenchymal disease
▪ Renovascular  eg. renal artery stenosis
▪ Polycystic kidney disease  ARPKD and ADPKD
▪ Renal tumours
o Catecholamine excess
▪ Phaechromocytoma
▪ Neuroblastoma
o Endocrine
▪ Congenital adrenal hyperplasia
▪ Cushing syndrome or corticosteroid therapy
▪ Hyperthyroidism
o Essential hypertension
▪ A diagnosis of exclusion
Understand the importance of investigation for an underlying cause in children who present with hypertension
• Presentation includes
o Vomiting o Hypertensive
o Headahces o Retinopathy
o Facial palsy o Convulsions
194
o Proteinuria
• FTT and cardiac failure are the most common features in infants  phaeochromocytoma may also cause
paroxysmal palpitations and sweating
• Some causes are correctable  eg. nephrectomy for unilateral scarring, angioplasty for renal artery stenosis,
surgical repair of coarctation of the aorta, resection of a phaechromocytoma  but in most cases medical
treatment is necessary with anti-hypertensive drugs
• As hypertension can lead to bleeds and serious damage to organs  it is vital that a cause is found so
treatment can commence  many of these causes also have a wider systemic impact that must be managed
• Early detection of hypertension is important  any children with a renal abnormality should have their blood
pressure checked annually throughout life
• Children with a family history of essential hypertension should be encouraged to restrict their salt intake,
avoid obesity and have their blood pressure checked regularly
195
URINARY TRACT ABNORMALITIES

Know the presenting features of urinary tract abnormalities e.g. antenatal diagnosis, UTI
• Before antenatal ultrasound scanning became routine  few congenital abnormalities of the kidneys and
urinary tract were diagnosed until they caused symptoms in infancy, childhood or, occasionally, adult life
• Now the majority are identified in utero and can be managed prospectively  abnormalities are identified in
1 in 200–400 births
• They are potentially important because they may:
o Be associated with abnormal renal development or function
o Predispose to postnatal infection
o Involve urinary obstruction  which requires surgical treatment.
• The antenatal detection and early treatment of urinary tract anomalies provide an opportunity to minimise or
prevent progressive renal damage  a disadvantage is that minor abnormalities are also detected, most
commonly mild unilateral pelvic dilatation, which do not require intervention but may lead to over-
investigation, unnecessary treatment and unwarranted parental anxiety
ANOMALIES DETECTABLE ON ANTENATAL ULTRASOUND SCREENING

• Absence of both kidneys (renal agenesis)  severe oligohydramnios resulting in Potter syndrome  
• Multicystic dysplastic kidney  a non-functioning structure with large fluid filled cysts and no renal tissue or
connection to the bladder
• Autosomal dominant or recessive polycystic kidney disease  in comparison to the condition above some
renal function is maintained but both kidneys are always affected  
• Pelvic or horseshoe shaped kidneys  predisposed to infection or obstructs drainage  
• Duplex system  varies from a bifid pelvis to complete division and two ureters. These can cause a variety of
problems including reflux and obstruction  
• Posterior urethral valves  a valve in the urethra which causes obstruction and reflux  
• Hydronephrosis  a dilation and swelling of the kidney due to increased back pressure.  
Understand the investigations used in the diagnosis of antenatal urinary tract abnormalities
• The GFR is low in a newborn infant and is especially low in premature infants  at 28 weeks gestation the
GFR is only 10% of the term infant
• In a term infant GFR is 15-20 ml/min per 1.73m2  but rapidly rises to a normal adult rate by the age of 2
• There are many investigations available to monitor the kidney and renal systems  most of these are
mentioned above or below but the following is a brief overview:
o Ultrasound – provides anatomical assessment but not function  
o DMSA scan – detects functional defects  
o MCUG/VCUG – visualise bladder and urethral anatomy and can  detect both reflux and obstruction  
o MAG3 isotope scan – isotopes excreted from the blood into the  urine can be measured  
o Plain abdominal X-ray – spinal abnormalities and potentially renal  stones  
ANTENATAL TREATMENT
• The male foetus with posterior urethral valves may develop severe urinary outflow obstruction  resulting in
progressive bilateral hydronephrosis, poor renal growth and declining liquor volume  with the potential to
lead to pulmonary hypoplasia
• Intrauterine bladder drainage procedures to prevent severe renal damage have been attempted  but
results have been disappointing
• Early delivery is rarely indicated.
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POSTNATAL MANAGEMENT
• Prophylactic antibiotics may be started at birth to try to prevent urinary tract infection  although practice
varies between centres
• As the newborn kidney has a low GFR  urine flow is low and mild outflow obstruction may not be evident in
the first few days of life
• The ultrasound scan should therefore be delayed for several weeks  however, bilateral hydronephrosis in a
male infant warrants an ultrasound shortly after birth to exclude posterior urethral valves  which always
requires urological intervention such as cystoscopic ablation
Outline the embryology and be aware of the treatment options for hypospadias
• In the male foetus the formation of the urethra occurs in a proximal to distal direction  under the influence
of testosterone
• Failure to complete this results in a urethral opening proximal to the normal position on the glans  termed
hypospadias
• It is a common congenital abnormality occurring in about 1 in 200 boys
• Signs and symptoms include
o Ventral urethral meatus  normally on the glans penis but can be on the corona, shaft or perineum.
o Hood dorsal foreskin  that has failed to fuse ventrally and a chordae-ventral curvature (of the penis
head)  severe hypospadias
• Complications are mostly cosmetic  but more severe abnormalities cause problems urinating and with
erections
• In the most severe disease other genito-urinary abnormalities should be excluded along with intersex disorder
197
NEUROPATHIC BLADDER
Have an awareness of the presenting features of children with a neuropathic bladder
• Neurogenic bladder is a condition where the bladder does not empty properly due to a neurological condition
or spinal cord injury (or spinal bifida)
• Symptoms may include
o Urinary incontinence  the need to urinate frequently and with urgency as well as experiencing small
during volume during urination, dribbling urine and loss of sensation of bladder fullness.  
o Urinary tract infection  an infection may result from urine being held in the bladder too long  
o Kidney injury  these occur as a result of the high pressure caused by urine back log  
o Kidney stones  can be difficult to detect if the child cannot feel pain due to spinal injury 
symptoms include pain, blood in urine and fever/chills 
o Erectile dysfunction may present in later life  
198
NEUROLOGY
CEREBRAL PALSY (CP)
To understand the risk factors for development of CP and be able to distinguish between different types of cerebral
palsy
• Cerebral palsy  an abnormality of movement & posture causing activity limitation attributed to non-
progressive disturbances that occurred in the developing foetal or infant brain  motor disturbances are
often accompanied by disturbances in cognition, communication, perception, sensation, behaviour and
seizure disorder and secondary musculoskeletal problems
• The lesion is non-progressive, the clinical manifestations emerge over time, reflecting the balance between
normal and abnormal cerebral maturation
• Most common cause of motor impairment in children affecting about 2 per 1000 live births
• The tem is usually used for brain injuries occurring up to the age of 2 years  after this age, it is more
appropriate to use acquired brain injury as the diagnosis
• The diagnosis for each child should formulate:
o The distribution of the motor disorder
o The movement types
o The cause
o Any associated impairment
RISK FACTORS
• 80% of CP is antenatal origin due to
o Vascular occlusion
o Cortical migration disorders
o Structural maldevelopment of the brain during gestation
o Genetic syndromes
o Congenital infection
• 10% of cases are thought to be due to hypoxic-ischaemic injury during delivery  remained relatively
constant over the last decade
• 10% are postnatal in origin
o Meningitis
o Encephalitis
o Encephalopathy
o Head trauma from accidental or non-accidental injury
o Symptomatic hypoglycaemia
o Hydrocephalus
o Hyperbilirubinaemia
• Pre-term infants are especially vulnerable to brain damage from periventricular leukomalacia (PVL) secondary
to ischaemia and/or severe intraventricular haemorrhage  the rise in survival of extremely preterm infants
has been accompanied by an increase in survivors with CP, although the number of such children is relatively
small
• Many children who develop CP will have been identified as being at risk in the neonatal period  early
features of CP are as follow
o Abnormal limb and/or trunk posture and tone in infancy with delayed motor milestones may be
accompanied by slowing of head growth
o Feeding difficulties, with oromotor incoordination, slow feeding, gagging & vomiting
o Abnormal gait once walking is achieved
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o Asymmetric head function before 12 months of age
• In CP, primitive reflexes, which facilitate the emergence of normal patterns of movement and which need to
disappear from motor development to progress, may persist and become obligatory
• The diagnosis is made by clinical examination, with particular attention to assessment of posture and the
pattern of tone in the limbs & trunk, hand function and gait
TYPES OF CEREBRAL PALSY

• There are three main clinical subtypes  mixed pattern may occur
o Spastic  90%
o Dyskinetic  6%
o Ataxic  4%
• Spastic cerebral palsy  there is damage to the upper motor neurone pathways (pyramidal or corticospinal)
 limb tone is persistently increased (spasticity) with associated brisk deep tendon reflexes and extensor
plantar responses  limb involvement is described as unilateral or bilateral to acknowledge asymmetrical
signs  spasticity tends to present early and may even be seen in the neonatal period  sometimes there is
initial hypotonia, particularly of the head & trunk  there are three main types of spastic CP
o Hemiplegia  unilateral involvement of the arm & leg - the arm is usually affected more than the leg,
with the face spared  affected children often present at 4-12 months of age with fisting of the
affected hand, a flexed arm, a pronated forearm, asymmetric reaching or hand function 
subsequently a tiptoe walk on the affected side may become evident  affected limbs may be
initially flaccid & hypotonic, but increased tone soon emerges as the predominant sign  some cases
are caused by neonatal stroke
o Quadreiplegia  all four limbs are affected, often severely  the trunk is involved with a tendency to
opisothonus (extensor posturing), poor head control and low central tone  often associated with
seizures, microcephaly and moderate or severe intellectual impairment  there may have been a
history of perinatal hypoxic-ischaemic encephalopathy
o Diplegia  all four limbs, but the legs are affected to a much greater degree than the arms, so that
hand function may appear to be relatively normal  motor difficulties in the arms are most apparent
with functional use of the hands, but walking is abnormal  diplegia is one of the patterns associated
with preterm birth due to periventricular brain damage
• Dyskinetic cerebral palsy  dyskinesia refer to movements which are involuntary uncontrolled, occasionally
stereotyped, and often more evident with active movements or stresss  muscle tone is variable and
primitive motor reflex patterns pre-dominate – may be described as:
o Chorea  irregular, sudden and brief non-reptitive movements
o Athetosis  slow writhing movements occurring more distally, such as fanning of the fingers
o Dystonia  simultaneous contraction of agonist & antagonist muscles of the trunk and proximal
muscles often giving a twisting appearance
Intellect may be relatively unimpaired  affected children often present with floppiness, poor trunk control
and delayed motor development in infancy  abnormal movements may only appear towards the end of the
1st year of life  the signs are due to damage or dysfunction in the basal ganglia or their associated pathways
 the commonest cause was previously hyperbilirubinaemia (kernicterus) due to rhesus disease, but it is now
hypoxic-ischaemic encephalopathy
• Ataxic (hypotonic) cerebral palsy  most are genetically, but when due to acquired brain injury (cerebellum or
its connection), the signs occur on the same side as the lesion but are usually relatively symmetrical  there
is early trunk and limb hypotonia, poor balance and delayed motor development  incoordinate movements,
intention tremor and an ataxic gait may be evident later
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To know how to treat these children with therapy, antispasmodic drugs, orthopaedic surgery and baclofen pumps
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• Parents should be given details of the diagnosis as early as possible, but prognosis is difficult during infancy
until the severity and pattern of evolving signs and the child’s developmental progress have become clearer
over several months or years of life
• Children with CP are likely to have a wide range of associated medical, psychological and social problems 
making it essential to adopt an MDT approach to assessment & management
• Complex multidisciplinary input  the primary therapists are the child’s carers as they will provide at least
90% of the therapy to the child  in the early years, experts in speech, physiotherapy and occupational
therapy will support this treatment  team may include
o Paediatrician
o Health visitor
o Social worker
o Physio  helps with movement & co-ordination
o Orthotist  specialized in the use of devices (orthoses) to correct deformities and support weakened
joint
o SALT
o OT  helps with skills and abilities needed for ADL
o Teacher specializing in helping children with visual impairment
o Educational psychologist  specializes in helping people with learning difficulties
o Orthopaedic surgeon  monitor hips, spine and sometimes for surgery
o Neurologist & neurosurgeon
• Important factors
o Posture & movement  optimize function by improving symmetry, joint ranges, muscle length and
power  treatments and support include
▪ Stretching exercises
▪ Orthoses  ankle foot orthosis
▪ Wheelchair for mobility
▪ Sleeping & standing systems
▪ Botox to the gastrocnemius
▪ Surgery as a last resort
o Communcation  with speech therapy and aids
o Independence with a tailored education program  aids under supervision from OT
o Cognition and learning support  with a tailored educational programme
o General medical  watch for seizures, constipation, malnutrition and behavioural or psychiatric
disturbance
• Physiotherapy  started shortly after diagnosis
o Encourage movement & improve capability  involving walking aid or orthotics
o Build of strength and to prevent the weakening of muscles that aren’t normally used by the child
o Prevent muscles shortening and losing their normal range of movement  contracture
• Medications
o Diazepam  short term treatment for muscle pain & stiffness  NB other muscle relaxants can be
used is it doesn’t work – dantrolene or tizandidine
o Baclofen  longer term treatment for muscle pain & stiffness  can be given as a pump, which is
surgically implanted under the skin near the waist and is connect to the spinal cord
o Botox  used to target specific muscles or groups of muscles with stiffness  normally last between
3-6 months
o Dyskinetic CP medications
▪ Trihexyphenidyl
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▪ Gabapentin
▪ Clonidine
• Orthopaedic surgery may involve
o Soft tissue surgery  eg. tendon release or muscle lengthening
o Bone surgery  eg. treating hip dislocation
• Selective dorsal rhizotomy (SDR)  surgical procedure that can help children with severe muscle spasticity to
improve walking
Understanding a multidisciplinary approach
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EPILEPSIES
To be able to distinguish between the common types, know what an EEG and MRI scan can and cannot show
• Status epilepticus  StE can be convulsive with tonic/clonic movements or it can be non-convulsive with
impairment of consciousness and often subtle twitching  technically, it is a seizure lasting >30 minutes or
repeated seizures lasting >30 minutes without recovery of consciousness
• There are several syndromes associated with epilepsy which are important to know
o West syndrome (4-6 months)  EEG shows hypsarrhythmia (chaotic background of slow wave
activity with sharp multi-focal components). Pattern of seizure is violent flexor spasms of the head,
trunk and limbs followed by extension of the arms. Spasms occur for 1-2 seconds and repeat 20-30
times
o Lennox-Gastaut syndrome (1-3 years)  mostly drop attacks, tonic seizures and atypical absences
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o Childhood absence epilepsy (4-12 years)  EEG shows 3/second spike and wave discharge which is
bilaterally synchronous
o Benign epilepsy  tonic-clonic seizures in sleep or simple focal seizures with awareness of abnormal
feelings. EEG shows focal sharp waves from the Rolandic area
o Early onset benign childhood occipital epilepsy  periods of unresponsiveness in young children and
hallucinations/visual disturbance in older children. EEG shows occipital discharges
o Juvenile myoclonic epilepsy  myoclonic seizures but generalised tonic-clonic or absences may also
occur, mostly shortly after waking. There is a characteristic EEG.  
INVESTIGATIONS
• An EEG is indicated whenever epilepsy is suspected  it can identify a background level of activity that is
abnormal for the child’s age
o Asymmetry or slowing that might suggest underlying structural abnormalities
o Evidence of neuronal hyperexcitability  eg. sharp waves or spike-wave complexes
• Many children with epilepsy have a normal initial EEG and many children without epilepsy have abnormal
EEGs
• Unless a seizure is actually captured  an EEG does no more than add supportive evidence to the diagnosis
• NB – if the standard EEG is normal, a sleep or sleep-deprived record can be helpful
• Structural imaging
o MRI & CT scans are not required routinely for childhood generalised epilepsies
o They are indicated if there are neurological signs between seizures, or if seizures are focal
o They are used to identify a tumour, vascular lesion or area of sclerosis which could be treatable
o MRI FLAIR sequences better detect mesial temporal sclerosis in temporal lobe epilepsy
• Functional scans
o Detects area of abnormal metabolism suggestive of seizure foci
o These include PET and SPECT scanning  which use isotopes & ligands taken upy my metabolically
active cells
o Both can be used between seizures to detect areas of hypometabolism in epileptogenic lesions
• Summary of investigations
o EEG  show there is an underlying abnormality, but no details  1st line
o MRI & CT  show underlying organic cause for seizures – eg. tumour, vascular lesion  only used
when abnormal neurological activity is present between seizures
Have some knowledge of initial investigations and treatment options

INVESTIGATIONS
• EEG  1st line investigation for all children suspected of having epilepsy
• Imaging  MRI & CT scans if structural abnormality found or suspected
• Metabolic investigations  mat be warranted when there is developmental regression or seizures related to
feeding or fasting
• Genetic studies  will become increasingly helpful as certain epilepsy syndromes are now known to be due
to genetic deletions causing abnormalities of sodium and other ion channel  eg. SCN1A mutation in severe
myoclonic epilepsy
TREATMENT
• Anti-epileptic drugs can be used for treatment. The principles that govern their use are:
o Not all seizures require AED therapy and treatment should be based on seizure type, frequency and
the social and education circumstances
o Choose the appropriate drug for the seizure
o Monotherapy at the minimum dose is desired
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o All AEDs have unwanted side effects that need discussing
o Drug levels are not measured routinely
o Children with prolonged seizures are given rescue therapy (usually rectal or buccal diazepam)
o AED can usually be discontinued after 2 seizure free years.
Seizure type First line Second line
Valporate Lamotrigine
Tonic-clonic
Carbamazepine Topiramate
Valporate
Absence Lamotrigine
Ethosuximide
Myoclonic Valporate Lamotrigine
Topiramate
Levetiracetam
Carbamazepine Oxcarbazepine
Focal
Valporate Gabapentin
Lamotrigine – most effective Tiagabine
Vigabatrin
• Other treatment options include:

o Ketogenic  diets may be helpful in some children
o Vagal nerve stimulation  delivered using an external programmable wire or magnet
o Surgery  if well localised with useful EEG and MRI findings, but involves removal of sections of brain
 
To be conversant with the names and side effects of common antiepileptic drugs
To know about SUDEP and what safety information to give families

• Sudden unexpected death in epilepsy (SUDEP)  occurs in a very small proportion of people
• The cause is often unknown  but it is not due to injury, drowning or a prolonged seizure causing hypoxia
• It is estimated to cause around 500 deaths per year
• It is most common in people who have generalised tonic-clonic seizures  especially in young adults
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• The risk factors include poor seizure control and seizures occurring in sleep  these can be minimized by
trying to prevent seizures through medication or surgery
To be able to explain to parents how often febrile seizures occur and basic first aid advice
• Febrile seizure  a seizure accompanied by a fever in the absence of intracranial infection due to bacterial
meningitis or viral encephalitis
• They occur in up to 4% of all children  generally between the ages of 6 months – 6 years  unlikely to have
first episode >4 years
• There is a genetic predisposition  with a 10% risk if the child has a first-degree relative with febrile seizures
• The seizure usually occurs early in a viral infection when the temperature is rapidly rising
• Management
o Safety  move any danger away from child and note the time of the seizure
o Assistance  call for help if unfamiliar with febrile seizures
o Treatment  if >10min child should be treated for status epilepticus and post the child should be
assess for source of fever, investigated and treated appropriately
o Menigitis?  consider if stiff neck, extreme lethargy >4hr post-seizure, abundant vomiting or is <12
months old
o Seizure prevention & home care  poor evidence to support intervention, give standard anti-pyretics
in early febrile illness and get expert advice if seizure >10mins
• First aid advice
o Place them in the recovery position on a soft surface to prevent them aspirating vomit once the
seizure is over
o Whilst the seizure is occurring the child should be placed in a safe location, away from objects that
could cause injury
o Stay with the child and call for help if the seizure lasts >5mins
To know about the relationship between febrile seizures/convulsions

• They can occur in infants or small children  most last a minute or two, but it can be just a few seconds 
while other last for more than 15 minutes
• Typically, the child has no previous neurological disease or focal deficits on examination
• These children may have a temperature of >39oC  but temperature may have become normal by the time it
is measured
• Seizure tends to occur during the first day of fever
• Children prone to febrile convulsions are not considered to have epilepsy  95-98% of children who have
experienced febrile seizures do not go on to develop epilepsy
• Recurrence risk of seizure is 35% over lifetime  25% during the next 12 months
• Vast majority of febrile convulsions are harmless  children who have febrile seizures that are length, affect
only part of the body, recur within 24hrs or who have neurological abnormalities have a higher incidence of
subsequent epilepsy
• Categorisation
o Simple febrile seizure (typical)  generalised tonic-clonic activity lasting <15 minutes without
associated fever
o Complex febrile seizures (atypical)  these occur in up to 15% of cases and are characterized by focal
seizure activity, or prolonged seizure activity (15mins) or multiple seizures within 1 day
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TRANSIENT LOSS OF CONSCIOUSNESS (TLOC)

To be able to distinguish between epileptic attacks, syncopal episodes and other movement disorders, presenting as
unresponsive stare, TLOC or convulsions
• These can also be labelled as paroxysmal disorders  the major question is whether a diagnosis of epilepsy is
correct or if there is a different cause mimicking it
• A clinical diagnosis based on history, examination and EEG should be enough to help differentiate
• Causes of funny turns include:
o Breath holding attacks  toddler holds breath whilst crying and can lose consciousness but rapidly
recovers
o Reflex anoxic seizures  occurs in infants or toddlers and triggers include pain or discomfort  the
hypoxia may stimulate a tonic-clonic seizure
o Benign neonatal sleep myoclonus  these are single or repetitive episodes of jerking of arms & legs,
typically while falling asleep
o Daydreaming  can appear very similar to absence seizure, but typically will not occur at home or
during activity
o Syncope  children may faint from hot environments or prolonged standing  occurs from 7months
onwards  may be preceeded by aura, loss of vision, tingling or auditory phenomenon  myoclonic
jerks may follow for a few seconds post-seizure
o Migraine  headaches with unsteadiness or light-headedness
o Benign paroxysmal vertigo  vertigo lasting several minutes and associated with nystagmus and
possible falling  usually due to viral labyrinthitis
o Cardiac causes  cardiomyopathy or prolonged QT syndrome
o Other causes  psuedoseizures, Munchausen’s by proxy, NAI, atonic epileptic seizures  
To be able to recognise the history of a child with blue breath holding spells i.e. expiratory apnoea syncope
• Breath holding attacks  occur in some toddlers when they are upset, angry, frustrated, in pain or afraid
• The child cries, holds their breath and goes blue  can stop breathing for up to a minute
• Sometime children will briefly lose consciousness, but will rapidly recover fully  spell is a reflex and usually
not a deliberate act
• Breath holding can be classified as
o Cyanotic  most common type and occurs in response to anger or frustration  a child’s skin
typically turns red or blue/purple
o Pallid  a pale appearance in response to fear, pain or injury, especially after head trauma
• Can occur in children between 6 months – 6 years  most common between 1-3 yrs
• Some children may have one spell a year, whilst other may have several a day  they are not serious and
should not cause any serious damage
• Symptoms of a cyanotic spell
o A short burst of rigorous crying lasting less than 30 seconds
o Hyperventilation
o A pause in breathing after exhaling
o Red or blue skin & lips
o Seizures may occur
• Drug therapy is unhelpful, as attacks resolve spontaneously
• Behaviour modification therapy, with distraction, may help
To know how reflex anoxic seizures i.e. reflex asystolic syncope present and their relationship to “breath holding”
• Reflex anoxic seizures  occur in infants or toddlers
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• May have a 1st degree relative with a history of faints
• Commonest triggers are pain or discomfort  particularly from minor head trauma, cold food, frights or fever
• Some children with febrile seizures may have experienced this phenomenon
• After the triggering event  the child becomes very pale and falls to the floor  the hypoxia may induce a
generalised tonic-clonic seizure
• The episodes are due to cardiac asystole from vagal inhibition  the seizure is brief and the child rapidly
recovers
• Ocular compression under controlled conditions often leads to asystole and paroxysmal slow-wave discharge
on EEG
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ATAXIA
To be able to list the common causes of ataxia and know how to investigate them
• Ataxia  an abnormaility in gait that is wide-based, staggering, unsteady, intention tremor and dysmetria 
incoordination of movement, speech and posture due to either cerebellar (more common in children) or
posterior pathway problems
• Causes of cerebellar ataxia
o Medication & drugs
o Varicella infection
o Vascular disorder
o Inborn errors of metabolism
o Poisoning
o Brainstem encephalitis
o Post-infectious or autoimmune  acute cerebellar ataxia
o Trauma
o Congenital malformation
o Posterior fossa lesions or tumours
o Genetic & degenerative disorders  eg. ataxic CP
o Friedreich ataxia
o Ataxia telangiectasia
• Friedreich’s ataxia  this is an autosomal recessive condition  presents with worsening ataxia, distal
wasting in the legs, absent lower limb reflexes but extensor plantar responses because of pyramidal
involvement, pes cavus (high arch) and dysarthria  is similar to hereditary motor sensory neuropathies but
with FA there is impairment of joint position and vibration sense, extensor plantars and there is often optic
atrophy  the cerebellar component will become more apparent with age  volving kyphoscoliosis and
cardiomyopathy can cause cardiorespiratory compromise and death at 40-50 years
• Ataxia telangiectasia  this disorder is of DNA repair and is an autosomal recessive condition  there may be
a mild delay in motor development in infancy and oculomotor problems with incoordination and delay in
ocular pursuit of objects, with difficulty with balance and coordination becoming evident at school age 
there is subsequent deterioration with a mixture of dystonia and cerebellar signs  many children require a
wheel chair for mobility
Telangiectasia develops in the conjunctiva, neck and shoulders from about 4 years  rhese children are more
susceptible to infection (IgA defect), develop malignant disorders, have raised alpha-fetoprotein and have
increased white cell sensitivity to radiation
• Clinical review
o Speech  increased separation of syllables and varied volumes – scanning speech
o Neurology  sensory disturbance in proprioception, positive Romberg, nystagmus with eye
movements
o Systemic  immunodeficiency, hypertrophic cardiomyopathy and DM in Fanconi’s anaemia
• Investigations
o Cerebral imaging  assess for tumours or damage
o Lumbar puncture  for plasma & CSF analysis  particular reference to varicella, strep and other
infections
o Inborn errors of metabolism assessment  eg. urea cycle disorders
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BRAIN TUMOURS
To be aware of the presenting features of brain tumours
• Brain tumours in children are almost always primary  60% are infratentorial
• They are the most common solid tumour in children  leading cause of childhood cancer death in the UK
• Types of brain tumours
o Astrocytoma (40%)  varies from benign to highly malignant (glioblastoma multiforme)
o Medulloblastoma (20%)  arises in the midline of the posterior fossa  may seed through the CNS
via CSF  up to 20% have spinal metastases at diagnosis
o Ependymoma (8%)  mostily in posterior fossa where it behaves like a medulloblastoma
o Brainstem glioma (6%)
o Craniopharyngioma (4%)  a developmental tumour arising from the squamous remnant of Rathke
pouch  it is not truly malignant, but is locally invasive and grows slowly in the suprasella region
• Signs & symptoms are often related to evidence of raised ICP, but focal neurological signs may be detected
depending on the site of the tumour
o Headache  worse in the morning o Separation of sutures/tense fontanelle
o Vomiting  especially on waking o Increased head circumference
o Behaviour/personality change o Head tilt/posturing
o Visual disturbance o Developmental delay/regression
o Papilloedema
• Spinal tumours, primary or metastatic can present with
o Back pain
o Peripheral weakness of arms or legs
o Bladder or bowel dysfunction
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DEVELOPMENTAL REGRESSION
To know the common causes of regression e.g. Battens Disease, Retts, Leukodystrophies, Wilson’s, SSPE
• Developmental regression  different to developmental delay as a child loses skills that they have previously
acquired rather than never acquiring them
• Battens Disease  rare, fatal autosomal recessive neurodegenerative disorder than begins in childhood 
symptoms occur around 4-10yrs with a gradual onset of visual problems & seizures  progresses to a change
in behaviour, speech and a regression in learning  there may be a slow in growth & breath holding attacks
 eventually function with deteriorate to dementia and death
• Rett’s syndrome  a pervasive neurodevelopmental disorder almost exclusively affecting girls and presenting
after 1 y/o with developmental regression and loss or purposeful hand movements  may develop seizures,
scoliosis, erratic breathing with episodes of breath-holding & hyperventiliation and stereotypic hand-wringing
• Leukodystrophies  a group of conditions characterized by dysfunction of the white matter of the brain 
the cause is incorrect growth of myelin sheath  symptoms include a gradual decline in an infant/child who
was previously doing well, progressive loss of movement, speech, vision, hearing and behaviour
• Wilson’s disease  autosomal recessive disorder with an incidence of 1 in 200,000  general result is a
reduced synthesis of copper binding protein, as well as defective excretion of copper in the bile, which leads
to accumulation in the liver, brain, kidney & cornea  rarely present in children <3y/o and can present with
almost any form of liver disease including hepatitis, cirrhosis & portal hypertension  neuropsychiatric
features are more common after the 2nd decade and include deterioration in school performance, mood,
behaviour and coordination
• Subacute sclerosis panencephalitis (SSPE)  a rare, chronic, progressive encephalitis caused by a persistent
infection of immune resistant measles virus  the history is a primary infection between 2yrs ad then 6-15
asymptomatic years before gradual psychoneurological deterioration
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HEAD GROWTH
To understand the differences between obstructive, communicating and external hydrocephalus
• In hydrocephalus, there is obstruction to the flow of CSF  leading to dilation of the ventricular system
proximal to the site of obstruction
• The obstruction may within the ventricular system or aqueduct (non-communication or obstructive) or at the
arachnoid vili, which is the site of CSF absorption (communicating)
• Obstructuve  the obstruction may be within the ventricular system or aqueduct
• Communicating  the obstruction may be at the arachnoid villi  can also be due to CSF overproduction or
venous drainage insufficiency
• External  a benign condition with a self-limiting absorption deficiency of infancy and early childhood that
leads to increased ICP  thought to be due to an immaturity of arachnoid villi not absorbing fast enough
• Causes of non-communicating hydrocephalus
o Congenital malformation
▪ Aqueduct stenosis
▪ Atresia of the outflow foramina in the 4th ventricle  Dandy-Walker malformation
▪ Chiari malformation
o Posterior fossa neoplasm or vascular malformation
o Intraventricular haemorrhage in pre-term infant
• Causes of communication hydrocephalus
o Subarachnoid haemorrhage
o Meningitis  eg. pneumococcal, tuberculous
o Disproportionately large head circumference
o Excessive rate of head growth  due to failure of suture formation
o Skull sutures separate  anterior fontanelle bulges and scalp veins become distended
o Fixed downwards gaze or sun setting of eyes  advanced sign
o Signs of increased ICP  covered above
To know the common causes of Macrocephaly

• Macrocephaly  a head circumference above the 98th centile
• Causes of macrocephaly
o Tall stature o Cerebral tumour
o Familial macrocephaly o Neurofibromatosis
o Raised ICP o Cerebral gigantism  Sotos syndrome
o Hydrocephalus  progressive or o CNS storage disorder  eg.
arrested mucopolysaccharidosis – Hurler
o Chronic subdural haematoma syndrome
• Most are normal children and often the parents have larger heads  however, a rapidly increasing head
circumference even if it still below the 98th centile, suggests raised ICP and may be due to hydrocephalus,
subdural haematoma or brain tumour
• It must be investigated promptly by intracranial US if the anterior fontanelee is still open  otherwise by CT
or MRI scan
To know the common causes of Microcephaly

• Microcephaly  a head circumference below the 2nd centile
• May be due to
o Familial  when it is present from birth and development is often normal
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o Autosomal recessive condition  when it is associated with developmental delay
o Caused by a congenital infection
o Acquired after an insult to the developing brain  eg. perinatal hypoxia, hypoglycaemia or
meningitits  when it is often accompanied by CP & seizures
To understand how craniosynostosis can occur and the way they may present
• Craniosynostosis  is a condition in which one or more of the fibrous sutures in an infant skull prematurely
fuses by turning into bone  thereby changing the growth pattern of the skull
• The sutures of the skull bones start to fuse during infancy, but do not finally fuse until late childhood 
premature fusion of one or more sutures may lead to distortion of the head shape
• It is usually localized  most often affects the sagittal suture, when it results in long narrow skill  rarely, it
affects lambdoid suture to result in skull asymmetry which needs to be differentiated from plagiocephaly,
which is asymmetric flattening of one side of the skill from positional moulding
• NB  it may be generalised when it is a feature of a syndrome
• The fused suture may be felt or seen as a palpable ridge and confirmed on skull X-ray or cranial CT scan
• If necessary, the condition can be treated surgically because of raised ICP or for cosmetic reasons  such
operations are performed in specialist centres for craniofacial reconstructive surgery
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MIGRAINE & HEADACHE

To be able to distinguish between migraine tension-type and secondary headaches
• Headache is a frequent reason for older children and adolescents to consult a doctor  the International
Headache Society (HIS) has devised a classification, which defines
o Primary headache  4 main groups, comprising migraine, tension-type headache, cluster headache
and other primary headaches  they are thought to be due to a primary malfunction of neurons
o Secondary headache  symptomatic of some underlying pathology  eg. raised ICP and space-
occupying lesions
o Trigeminal and other cranial neuralgias, and other headaches including root pain from herpes zoster
TENSION-TYPE HEADACHE
• This is a symmetrical headache of gradual onset, often described as tightness, a band or pressure  there are
usually no other symptoms
• Migraine without aura (90%)  in children episodes last 1-72hrs and is most commonly bilateral  it is
characteristically pulsatile, over temporal or frontal area and is often accompanied by unpleasant GI
disturbance, such as N&V, abdo pain and photophobia/phonophobia  aggravated by physical activity
• Migraine with aura (10%)  preceded by an aura (visual, sensory or motor), but may occur without a
headache  features are the absence of problems between episodes and the frequent presence of
premonitory symptoms  the most common aura comprises of visual disturbances – there are rarely
unilateral, sensory or motor symptoms
o Negative phenomena  eg. hemianopia or scotoma
o Positive phenomena  eg. fortication spectra (zigzag lines)
Episodes usually last for a few hrs and sleep will often relieve the bout  symptoms of tension-type
headaches & migraine overlap  thought to be caused by neuronal dysfunction including channelopathies,
with vascular phenomenas as seconday events
There is a genetic predisposition  bouts are often triggered by a disturbance of inherent biorhythms, or in
girls may be related to menstruation or the OCP
SECONDARY HEADACHES
• Headaches may be due to space-occupying lesions  these headaches are worse when lying down and
morning vomiting is characteristic and may also cause night-time waking
• There is often a change in mood, personality or educational performance
• Other suggestive features of a space-occupying lesions
o Visual field defects  eg. craniophyrngioma
o Cranial nerve abnormalities  causing diplopia, new-onset squint or facial nerve palsy
o Abnormal gait
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o Torticollis  head tilting
o Growth failure
o Papilloedema  a late feature
o Cranial bruits  may be head in AV malformations
To know what features are suggestive of raised intracranial pressure and be aware of treatment options
• Raised ICP is a potent cause of headaches and will be associated with either or both of the following
o Abnormal examination  heel-toe walking, finger-nose coordination, eye movements, and fundi (eg.
papilloedema)
o Severe short history  vomiting, morning headache and visual disturbances
• Clinically, the main concern is a mass obstructing CSF flow  this is detected by MRI as a gold standard, but
CT can be used  however, CT does not identify thrombosis of a cerebral sinus
• The signs of raised ICP include
o Abnormal respiratory pattern
o Unequal or unreactive pupils
o Impaired or absent oculocephalic or oculovestibular responses
o Systemic hypertension & bradycardia
o Tense fontanelle
o Abnormal body posture or muscle flaccidity
• Raised ICP is treated with
o The head positioned midline
o The head end of the bed tilted 20-30o
o Isotonic fluids at 60% maintenance
o Intubation & ventilation if GCS <9
o Mannitol or 3% saline as osmotic diuretics
o Maintaining normothermia and high normal blood pressure
o NB – an intracranial mass lesion may require neurosurgical intervention
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SUBDURAL HAEMATOMA
To be aware of the causes of this and be able to recognise the symptoms
• Subdural haematoma  results from tearing of the veins as they cross the subdural space
• Characteristic lesion in non-accidental injury  caused by shaking or direct trauma in infants or toddlers
• Retinal haemorrahges are usually present  not specific for diagnosis nor can they be dated with precision
• There has been controversy surrounding the relative contributions of direct trauma, shearing injury & hypoxia
• Suddural haematoma are occasionally seen following a fall from a considerable height
• Signs & symptoms of acute SDH
o Encephalopathy o Breathing abnormalities & apnoea
▪ Irritability o Pallor & shock
▪ Crying o Tense fontanelle  raised ICP
▪ Inconsolability o Early post-traumatic seizures  occur
▪ Unsettled behaviour more frequently in inflicted than in
▪ Lethargy non-inflicted head injury
▪ Meningism
▪ Decreased or increased tone
▪ Seizures
▪ Imparied consciousness
o Vomiting & poor feeding
• Signs & symptoms of subacute or chronic SDH
o Expanding head circumreference
o Vomiting
o Failure to thrive
o Neurological deficits
• Differential diagnosis for SDH
o Trauma or traumatic labour
o Neurosurgical complications or cranial malformation  aneurysm, arachnoid cyst
o Cerebral infections
o Coagulation and haematological disorders
o Metabolic  glutaric aciduria, galactosaemia
o Biochemical disorders  hypernatraemia
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MYOPATHY
Be aware of the features of myotonic dystrophy
• Myotonia is delayed relaxation after sustained muscle contraction  it can identified clinically and on
electromyography
• Dystrophia myotinica  relatively common illness is autosomal dominant  caused by a nucleotide triplet
repeat expansion, which means there can be anticipation through generations especially when maternally
transmitted  there is correlation between the number of repeats and with severity & onset  it is a
progressive condition with onset between 20-50yrs
• Newborns can present with hypotonia and feeding/respiratory difficulties due to muscle weakned  it is then
useful to examine the mother for myotonia, which manifests as slow release of handshake or difficulty
releasing a tightly clasped fist  sensitivity is required as diagnosis in the neonate may have repercussions for
the family
• Older children can present with myopathic facies, learning difficulties, failure to meet milestone and
myotonia/hypotonia
• There is progressive distal muscular weakness, ptosis, weakness & thinning of the face and SCM along with
the ‘carp mouth’  other features of the syndrome include
o Cataracts o Conductive defects
o Frontal balding o Small pituitary fossa & hypogonadism
o Mild cognitive impairment o Glucose intolerance
o Oesophageal dysfunction o Low serum IgG
o Cardiomyopathy  main cause of
death
To be aware of the features of Duchenne Muscular Dystrophy (DMD) and Congenital Muscular Dystrophies
DUCHENNE MUSCULAR DYSTROPHY
• DMD is an X-linked recessive disorder  it mostly affects boys, with girls only being a carrier unless they are
homozygous for the gene
• Children with DMD usually start to have noticeable symptoms between 1-3yrs  the muscles around the
pelvis and thighs tend to be affected first and often appear bulkier than normal
• A child with DMD may have
o Difficulty walking, running or jumping
o Difficulty standing up
o Learn to speak later than usual
o Be unable to climb the stairs without support
o Behavioural or learning difficulties
• Children with DMD may need a wheelchair by the age of 8-14yrs, as their muscles weaken and they lose the
ability to walk  they can also develop scoliosis leading to one shoulder or hip being higher than the other
• Older children will develop a dilated cardiomyopathy  affecting the cardiac muscles and causing the atria &
ventricles to enlarge and the walls to get thinner
• By late teens or early 20s, sufferers will start to have breathing problems  this primarily due to problems
with the intercostals and diaphragm
• Once the cardiac & respiratory muscles are damaged, DMD becomes life-threatening  with medical care,
most people will die from cardiac or respiratory failure before or during their 30s
CONGENITAL MUSCULAR DYSTROPHIES
• These are a heterogeneous group of disorder  most with recessive inheritance  present at birth or early
infancy with weakness, hypotonia or contractures
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• Typically, the proximal weakness is slowly progressive with a tendency to contracture when the ability to walk
is lost  some may run a more static course
• Biopsy show dystrophic features, with a reduction of on the ECM proteins or several glycosyltransferases 
such as laminin
• These dystrophies may be linked with CNS abnormalities, which may result in learning difficulties
• The main difference between DMD and congenital MD is that they are present at birth and tend to have a
more variable and longer life expectancy
To know about the treatment of DMD i.e. steroids, cardiac drugs, and nocturnal ventilation
• Steroids  help improves muscle strength and function for 6 months – 2years and slows down the process of
muscle weakening  it is available in tablet or liquid form and current research suggests daily doses are most
effective  however, long term use of steroids is associated with significant side effects
• Creatinine supplements  recent research has shown that these can improve muscle strength in some
people, but will cause side effects
• Cardiac drugs  ACE-I and beta blockers may be prescribed to control blood pressure and arrhythmias  is
some cases a pacemaker may need to be fitted to regulate the heartbeat
• Nocturnal ventilation  overnight CPAP may be provided to improve quality of life and prevent apnoea
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NEUROPATHY
To be know about acute conditions e.g. Gullian Barre, and also chronic neuropathies e.g. Charcot Marie Tooth, CIDP
GUILLAIN-BARRE SYNDROME
• Also known as acute post-infectious polyneuropathy  presentation is typically 2-3 weeks after a URTI or
campylobacter gastroenteritis
• There may be fleeting abnormal sensory symptoms in the legs, but the prominent features is an ascending
symmetrical weakness with loss of reflexes and autonomic involvement  sensory symptoms, usually in the
distal limbs, are less striking than the paresis, but can be unpleasant
• Involvement of bulbar muscles leads to difficulty chewing & swallowing and the risk of aspiration 
respiratory depression may require artificial ventilation
• The maximum muscle weakness may occur only 2-4 weeks after the onset of illness  although full recovery
may be expected in 95% of cases, this may take up to 2 years
• CSF protein is raised after 2 weeks, but WCCs is negative
• Management is supportive, particularly of respiration  corticosteroids have no beneficial effect and may
even delay recovery  ventilator supported periods can be significantly reduced by IV Ig or plasma exchange
BELL PALSY
• This is an isolated LMN paresis of the 7th CN leading to facial weakness
• Although the aetiology is unclear  it is probably post-infectious with an association with HSV in adults
• Corticosteroids may be of value in reducing oedema in the facial canal during the 1st week  but Acyclovir has
shown no benefit
• Recovery is complete in the majority of cases, but can take several months  the main complication is
conjunctival infection due to incomplete eye closure on blinking
• If an 8th CN palsy is also present, this may be a compression lesion at the cerebellar pontine angle (CPA)
• Hypertension should also be excluded as there is an association between Bell’s palsy and coarctation of the
aorta  if bilateral then suspect sarcoidosis or Lyme disease
CHARCOT MARIE TOOTH

• This involves distal muscle wasting and sensory loss with proximal progression over time  it is usually
autosomal dominant and may occur without family history
• Onset is usually by the age of 10yrs with:
o Muscle weakness and wasting starting with the intrinsic muscles of the feet and gradually affecting
the lower legs and thighs
o Sensory loss is similar and will lead to ataxia  pain & temperature sensation are not usually affected
o Generalised tendon areflexia
o There may be foot drop and difficulty walking
o Spinal deformities occur in 50%  eg. thoracic scoliosis
• Other common signs & symptoms  hand tremors, muscle cramps and acrocyanosis (blue extremities)
• There are currently no effective treatments to stop or slow progression, so treatment is primarily supportive
 most patients have a normal life expectancy
CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY (CIDP)

• This is an acquired, immune mediated inflammatory disorder of the PNS  it is related to Guillain-Barre
syndrome and is thought of a the chronic version of this disease
• It includes relapsing symptoms that present and then go  both proximal & distal limbs are affected with a
sense of weakness  sensory affects include tingling and numbness, but motor symptoms generally
predominante  deep tendon reflexes are reduced and gait is abnormal
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• It is most often idiopathic in origin, but has links to several other diseases including MS and SLE
To be aware of the presentation of the different types
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CHRONIC PAIN
Approach to management of chronic pain
PHARMACOLOGICAL MANAGEMENT
• Correct use of analgesic medicines will relieve pain in most children with persisting pain due to medical illness
and relies on the following key concepts
o Using a two-step strategy
o Dosing at regular intervals
o Using the appropriate route of administration
o Adapting treatment to the individual
• Optimal pain management may require a comprehensive approach comprising a combination of non- opioid,
opioid analgesics, adjuvants and non-pharmacological strategies. A comprehensive approach is possible even
in resource-limited settings
• WHO Clinical Recommendations
o It is recommended to use the analgesic treatment in two steps according to the child’s level of pain
severity
o Paracetamol and ibuprofen are the medicines of choice in the 1st step (mild pain)
o Both paracetamol and ibuprofen need to be made available for treatment in the 1st step
o The use of strong opioid analgesics is recommended for the relief of moderate to severe persisting
pain in children with medical illnesses
o Morphine is recommended as the 1st-line strong opioid for the treatment of persisting moderate to
severe pain in children with medical illnesses
o There is insufficient evidence to recommend any alternative opioid in preference to morphine as the
opioid of 1st choice
o Selection of alternative opioid analgesics to morphine should be guided by considerations of safety,
availability, cost and suitability, including patient-related factors
o It is strongly recommended that immediate-release oral morphine formulations be available for the
treatment of persistent pain in children with medical illnesses
o It is also recommended that child-appropriate prolonged-release oral dosage forms be available, if
affordable
o Switching opioids and/or route of administration in children is strongly recommended in the presence
of inadequate analgesic effect with intolerable side-effects
o Alternative opioids and/or dosage forms as an alternative to oral morphine should be available to
practitioners, in addition to morphine, if possible
o Routine rotation of opioids is not recommended
o Oral administration of opioids is the recommended route of administration
o The choice of alternative routes of administration when the oral route is not available should be
based on clinical judgement, availability, feasibility and patient preference
o The intramuscular route of administration is to be avoided in children
o A careful distinction between end-of-dose pain episodes, incident pain related to movement or
procedure, and breakthrough pain is needed
o It is strongly recommended that children with persisting pain receive regular medication to control
pain and also appropriate medicines for breakthrough pain
o The use of corticosteroids as adjuvant medicines is not recommended in the treatment of persisting
pain in children with medical illnesses
o The use of bisphosphonates as adjuvant medicines is not recommended in the treatment of bone
pain in children
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• WHO Health System Recommendations

o Education of health professionals in the standardized management of persisting pain in children with
medical illnesses and in the handling of the necessary medicines, including opioid analgesics, is
encouraged
o Health professionals will be allowed to handle opioids within their scope of practice or professional
role based on their general professional licence without any additional licensing requirements
o In addition, countries may consider, subject to their situation, allowing other professions to diagnose,
prescribe, administer and/or dispense opioids for reasons of eligibility, efficiency, increased coverage
of services and/or improved quality of care
o The conditions under which such permission is granted should be based on the demonstration of
competence, sufficient training, and personal accountability for professional performance
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Oncology & Haematology CP2 Learning Objectives Child Health
ONCOLOGY & HAEMATOLOGY

ACUTE LYMPHOBLASTIC LEUKAEMIA
Be able to describe the epidemiological risk for malignancy in childhood and adolescence, demonstrate knowledge of
the age incidence profiles of different malignancies
• Childhood malignancy affects 1 in 500 by 15yrs  it occurs in 1500 people in the UK each year  the
distribution of these cancers is as follows
o Leukaemia – 32%  
o Brain and spinal tumours – 24%  
o Lymphomas – 10%  
o Neuroblastoma – 7%  
o Soft tissue sarcomas – 7%  
o Wilms tumours – 6%  
o Bone tumour – 4%  
o Retinoblastoma – 3%  
o Others – 7%
• A general guide is that leukaemia affects children at all ages  neuroblastoma & Wilms tumour are almost
always seen in the first 6yrs of life  Hodgkin Lymphoma and bone tumours have their peak incidence in
adolescence and early life
• Acute lymphoblastic leukaemia (ALL) accounts for 80% of leukaemia in children  mot of the remainder is
acute myeloid/non-lymphocytic leukaemia (AML/ANLL)
• Chronic myeloid leukaemia and other myeloproliferative disorders are rare
Be able to describe the common presenting symptoms and signs

• Presentation of ALL peak at 2-5yrs  clinical symptoms and signs result from disseminated disease and
systemic ill-health from infiltration of the bone marrow or other organs with leukaemic blast cells
• In most children, leukaemia presents insidiously over several weeks  but in some children the illness
presents and progresses very rapidly
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The approaches to establishing a diagnosis and initial management aimed at preserving life with respect to transfusion
of blood and platelets and the risk of metabolic and clotting abnormalities
• Full blood count  in most, but not all children, the blood count is abnormal – low Hb, thrombocytopenia and
evidence of circulating leukaemic blast cells
• Bone marrow examination is essential to confirm the diagnosis and to identify immunological and cytogenetic
characteristics which give useful prognostic information
• CXR is required to identify a mediastinal mass characteristic of T cell disease
• Both ALL and AML are classified by morphology  immunological phenotyping further subclassifies ALL
o Common subtype  75%
o T-cell subtype  15%
• Prognosis and some aspects of clinical presentation vary according to different subtypes, and treatment
intensity is adjusted accordingly
TREATMENT SCHEME
• Blood transfusions of both platelets and whole red cells are used to reduce symptoms rather than cure the
patient  in ALL, patients may have low platelets leading to bruising and bleeding and hence a platelet
transfusion can help reduce this  the patient may also be anaemic so red cells will reduce their
breathlessness
• Before and during the initial induction phase of chemotherapy patients may develop tumour lysis syndrome
which refers to the metabolic derangements cause by the systemic and rapidly release of intracellular
contents as chemotherapy destroys leukaemic blast cells  effects are hyperuricaemia, hyperphosphataemia,
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hypocalcaemia and hyperkalaemia  to prevent complications electrolyte and uric acid levels should be
monitored along with IV fluid therapy  allopurinol may also be given
Be aware of the treatment regimes available and the theory of their actions
REMISSION INDUCTION
• Before starting treatment of the disease, anaemia may require correction with blood transfusion, the risk of
bleeding minimised by transfusion of platelets, and infection must be treated
• Additional hydration and allopurinol (or urate oxidase when the white cell count is high and the risk is greater)
are given to protect renal function against the effects of rapid cell lysis
• Remission implies eradication of the leukaemic blasts and restoration of normal marrow function
• Four weeks of combination chemotherapy is given and current induction treatment schedules achieve
remission rates of 95%.
INTENSIFICATION
• A block of intensive chemotherapy is given to consolidate remission  this improves cure rates but at the
expense of increased toxicity
CENTRAL NERVOUS SYSTEM

• Cytotoxic drugs penetrate poorly into the CNS  as leukaemic cells in this site may survive effective systemic
treatment, additional treatment with intrathecal chemotherapy is used to prevent CNS relapse
CONTINUING THERAPY
• Chemotherapy of modest intensity is continued over a relatively long period of time, up to 3 years from
diagnosis  co-trimoxazole prophylaxis is given routinely to prevent Pneumocystis cariniipneumonia
TREATMENT OF RELAPSE
• High-dose chemotherapy, usually with total body irradiation (TBI) and bone marrow transplantation, is used
as an alternative to conventional chemotherapy after a relapse.
Be able to demonstrate an understanding of tumour staging and prognostic factors and their influence on treatment
selection, and trials’ based approaches to therapy.
PROGNOSTIC FACTOR
Prognostic factor High-risk features
Age <1yr or >10yr
Tumour load (measured by WCC) >50x109/L
Cytogenetic/molecular genetic abnormalities in tumour eg. MLL rearrangement, t(4;11). Hypodiploidy (<44
cells chromosomes)
Speed of response to initial chemotherapy Persistence of leukaemic blasts in the bone marrow
Minimal residual disease assessment (MRD) High
• ALL is not staged but rather grouped into high or low risk by the above table. The tumour cells can however
be classified:
o L1 – small uniform cells  
o L2 – large varied cells  
o L3 – large varied cells with vacuoles  
• Different forms of ALL require different approaches to treatment  the typical treatment has been
mentioned
• With a T-cell ALL the addition of cyclophosphamide and intensive treatment with asparaginase is beneficial
• Mature B-cell needs treating like a lymphoma with short-term intensive chemotherapy including high dose
methotrexate.
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ANAEMIA
Know the normal physiological changes affecting blood count data from neonate to adolescent of all cell types (red,
white, and platelets)
• Haemopoiesis is the process which maintains lifelong production of haemopoietic blood cells  the main site
of haemopoeis is the liver in foetal life and the bone marrow in post-natal life
• The derivation of all blood cells can be seen in the diagram  but are derived from pluripotent stem cells,
which are crucial for normal blood production
• Stores of iron, folic acid and vitamin B12 is adequate in term & preterm infants  but these stores are lower
in preterm infants, so are quickly depleted in the first few months of life
• WCC in neonates is high than in older children  10-20x109/L compared to 4.5-13x109/L
• Platelet count is similar to that of an adult  150-450x109/L
• Anaemia is defined as an Hb level below the normal range and as these ranges vary with age, the anaemia can
be defined as
o Neonate  Hb <14
o 1-12 months  Hb<10
o 1-12 years  Hb <11
o
o Anaemia may result from reduced red cell production, increased red cell destructions or blood loss
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Be able to explain the reasons for the physiological changes in haemoglobin concentration with respect to growth,
development and nutrition from neonatal period through to adulthood
• The most important difference between foetal & post-natal life and haemopoiesis  the changing pattern of
haemoglobin
o Foetal Hb (HbF) is made of two alpha units and two gamma units  it has a higher affinity for oxygen
than adult Hb
o Adult Hb (HbA) is made of two alpha unity and two beta units
o HbF is gradually replaced by HbA in the first year of life  by 1, the percentage of remaining HbF is
very low
• At birth (term)  Hb is high (14-21.5g/dL) to compensate for the low O2 concentration in the foetus  Hb
falls over the first few weeks, due to RBC production, and reaches 10g/dL at 2 months of age
Understand the importance of dietary factors affecting blood composition including iron, folic acid and vitamin B12
• Iron deficient anaemia may be caused by
o Inadequate intake
o Malabsorption
o Blood loss (rare)
• Iron deficiency anaemia is common in infants because additional iron is required for the increase in blood
volume accompanying growth and to build up the child’s iron stores
• Iron can come from breast milk (50% absorbed – by far the best source), formula, cow’s milk or solids  iron
deficiency may develop due to a delay in weaning beyond 6 months.
• Iron is best absorbed with vitamin c and without tannin from tea (or red wine!)
• Clinical features are usually not present until below 6-7 g/dl  at which point the child will tire easily and feed
more slowly than usual  they may appear pale but this is an unreliable sign unless confirmed by the
conjunctiva, tongue or palmar creases
• Diagnosis  clues are microcytic, hypochromic anaemia (low MCV & MCH) and low serum ferritin
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• Management is primarily dietary advice and oral supplementation if needed  if there is still not a gain then
malabsorption should be investigated  the need of a blood transplant is incredibly rare
• Dietary sources of iron
o Foods to avoid in excess in toddlers o Average iron
▪ Cow’s milk ▪ Pulses, beans & peas
▪ Tea  tannin inhibits iron ▪ Fortified breakfast cereals
uptake with added vitamin C
▪ High fibre foods  phytates ▪ Wholemeal products
inhibits iron absorption ▪ Dark green vegetables 
o High in iron broccoli, spinach
▪ Red meat ▪ Dried fruit  raisins, sultanas
▪ Liver/kidney ▪ Nuts & seeds  cashews or
▪ Oily fish peanut butter
• Folate is vital as it provides the constituents to produce red cells  without it then the body cannot make
enough cells  so a macrocytic megaloblastic anaemia occurs
• B12 is also vital for DNA synthesis  so will have a similar effect if there is a deficiency
IRON REQUIREMENTS DURING CHILDHOOD
Be able to explain the changes in lymphocyte and neutrophil counts from neonatal period to adulthood and how they
might be used to detect infection, immunodeficiency states and malignant disorders of the blood
• Neutrophil & lymphocyte counts will drop slightly with age
• If the infant is below the reference values then there may be immunodeficiency
• If the infant is above the reference values then there may be an infection
• There can be a malignant disorder of the blood with either high or low values  however, generally a drop in
white cells is seen
Be able to describe the common presentations of haemolysis during childhood and the selection of tests to identify
haemolysis as a phenomenon
• Haemolytic anaemia is characterised by reduced red cell lifespan  due to increased red cell destruction in
the circulation (intravascular haemolysis) or liver/spleen (extravascular haemolysis)
• The lifespan of a normal red cell is 120 days and the bone marrow produces 173 000 million red cells per day
 in haemolysis, red cell survival may be reduced to a few days but bone marrow production can increase
about eight-fold  so haemolysis only leads to anaemia when the bone marrow is no longer able to
compensate for the premature destruction of red cells
• In children, unlike neonates, immune haemolytic anaemias are uncommon  the main cause of haemolysis in
children is intrinsic abnormalities of the red blood cells:
o Red cell membrane disorders (e.g. hereditary spherocytosis)
o Red cell enzyme disorders (e.g. glucose-6-phosphate dehydrogenase deficiency)
o Haemoglobinopathies (abnormal haemoglobins, e.g. β-thalassaemia major, sickle cell disease).
• Haemolysis from increased red cell breakdown leads to:
o Anaemia
o Hepatomegaly and splenomegaly
o Increased blood levels of unconjugated bilirubin
o Excess urinary urobilinogen.
• The diagnostic clues to haemolysis are:
o Raised reticulocyte count  on the blood film this is called ‘polychromasia’ as the reticulocytes have
a characteristic lilac colour
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o Unconjugated bilirubinaemia and increased urinary urobilinogen
o Abnormal appearance of the red cells on a blood film  e.g. spherocytes, sickle shaped or very
hypochromic
o Positive direct antiglobulin test  only if an immune cause, as this test identifies antibody-coated
RBCs.
o Increased RBC precursors in the bone marrow
HEREDITARY SPHEROCYTOSIS
• Hereditary spherocytosis occurs in 1 in 5000 births in Caucasians  it usually has an autosomal dominant
inheritance, but in 25% there is no family history and is caused by a new mutation
• The disease is caused by mutations in genes for proteins of the red cell membrane  mainly spectrin, ankyrin
or band 3  this results in the red cell losing part of its membrane when it passes through the spleen  this
reduction in its surface-to-volume ratio cause the cells to become spheroidal, making them less deformable
than normal and leads to their destruction in the microvasculature of the spleen
• The disorder is often suspected because of the family history  especially as the clinical manifestations are
highly variable  although individuals may be completely asymptomatic, the clinical features include
o Jaundice  usually develops during childhood, but may be intermittent  may cause severe
haemolytic jaundice in the first few days of life
o Anaemia  presents in childhood with mild anaemia, but the Hb level may transiently fall during
infections
o Mild to moderate splenomegaly  depends on the rate of haemolysis
o Aplastic crisis  uncommon, transient (2-4weeks), caused by parovirus B19 infection
o Gallstones  due to increased bilirubin excretion
• Diagnosis is made using a blood film, but more specific tests are available, although seldom required  eg.
osmotic fragility or dye binding tests
• Autoimmune haemolytic anaemia is also associated with spherocytes and this should be excluded with a
direct antibody test in the absence of a family history of hereditary spherocytosis
• Most children only have mild chronic haemolytic anaemia and the only treatment required is oral folic acid, as
they have a raised requirement secondary to their increased RBC production
• Splenectomy is beneficially, but is only indicated for poor growth or troublesome symptoms of anaemia  is
usually deferred until >7y/o because of post-op sepsis risk  all patients should be vaccinated against
H.influenzae, meningitis C and S.pneumonia prior to the operation and lifelong daily oral penicillin prophylaxis
is advised
• Aplastic crisis from parovirus B19 infection usually requires one or two blood transfusions over 3-4 weeks 
when no RBC are produced
GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD) DEFICIENCY

• G6PD deficiency is the commonest red cell enzymopathy  affecting over 100 million people worldwide  it
has a high prevalence (10–20%) in individuals originating from central Africa, the Mediterranean, the Middle
East and the Far East
• Many different mutations of the gene have been described  leading to different clinical features in different
populations
• G6PD is the rate-limiting enzyme in the pentose phosphate pathway  it is essential for preventing oxidative
damage to red cells  therefore RBCs lacking G6PD are susceptible to oxidant-induced haemolysis
• G6PD deficiency is X-linked and therefore predominantly affects males  females who are heterozygotes are
usually clinically normal as they have about half the normal G6PD activity  females may be affected either if
they are homozygous or, more commonly, when by chance more of the normal than the abnormal X
chromosomes have been inactivated
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• In Mediterranean, Middle Eastern and Oriental populations  affected males have very low or absent
enzyme activity in their red cells  affected Afro-Caribbeans have 10–15% normal enzyme activity
• Children usually present clinically with:
o Neonatal jaundice  onset is usually in the first 3 days of life  worldwide it is the most common
cause of severe neonatal jaundice requiring exchange transfusion
o Acute haemolysis  precipitated by:
▪ Infection  most common
▪ certain drugs
▪ fava beans  broad beans
▪ naphthalene in mothballs.
• Haemolysis due to G6PD deficiency is predominantly intravascular  this is associated with fever, malaise and
the passage of dark urine, as it contains haemoglobin as well as urobilinogen  the haemoglobin level falls
rapidly and may drop below 5 g/dl over 24–48 h
• Between episodes  almost all patients have a completely normal blood picture and no jaundice or anaemia
 therefore the diagnosis is made by measuring G6PD activity in red blood cells  during a haemolytic crisis,
G6PD levels may be misleadingly elevated due to the higher enzyme concentration in reticulocytes  which
are produced in increased numbers in response to the destruction of mature red cells  a repeat assay is
then required in the steady state to confirm the diagnosis
• The parents should be given advice about the signs of acute haemolysis (jaundice, pallor and dark urine) and
provided with a list of drugs, chemicals and food to avoid  transfusions are rarely required, even for acute
episodes.
HAEMOGLOBINOPATHIES
• Haemoglobinopathies are red blood cell disorders which cause haemolytic anaemia because of reduced or
absent production of HbA (α- and β-thalassaemias) or because of the production of an abnormal Hb  e.g.
sickle cell disease
• α-Thalassaemias  caused by deletions (occasionally mutations) in the α-globin gene
• β-Thalassaemia and sickle cell disease are caused by mutations in the β-globin gene
• Clinical manifestations of the haemoglobinopathies affecting the β-chain are delayed until after 6 months of
age when most of the HbF present at birth has been replaced by adult HbA
Be able to explain how the genetic mutations of haemoglobin lead to the signs and symptoms of homozygous and
heterozygous states of Sickle Cell Disease
• Sickle cell anaemia is now the commonest genetic disorder in children in many European countries 
including the UK  prevalence 1 in 2000 live births
• Sickle cell disease is the collective name given to haemoglobinopathies in which HbS is inherited  HbS forms
as a result of a point mutation in codon 6 of the β-globin gene  which causes a change in the amino acid
encoded from glutamine to valine
• Sickle cell disease is most common in patients whose parents are black and originate from tropical Africa or
the Caribbean  but it is also found in the Middle East and in low prevalence in most other parts of the world
except for northern Europeans.
• There are three main forms of sickle cell disease and the sickle trait:
o Sickle cell anaemia (HbSS)  patients are homozygous for HbS,  they have small amounts of HbF
and no HbA because they have the sickle mutation in both β-globin genes.
o HbSC disease (HbSC)  affected children inherit HbS from one parent and HbC from the other parent
 so they also have no HbA because they have no normal β-globin genes  HbC is formed as a result
of a different point mutation in β-globin
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o Sickle β-thalassaemia  affected children inherit HbS from one parent and β-thalassaemia trait from
the other  they have no normal β-globin genes and most patients can make no HbA  therefore
have similar symptoms to those with sickle cell anaemia
o Sickle trait  inheritance of HbS from one parent and a normal β-globin gene from the other parent
 so approximately 40% of the haemoglobin is HbS  they do not have sickle cell disease but are
carriers of HbS, so can transmit HbS to their offspring  they are asymptomatic and are only
identified as a result of blood tests
• In all forms of sickle cell disease  HbS polymerises within red blood cells forming rigid tubular spiral bodies
which deform the red cells into a sickle shape
• Irreversibly sickled red cells have a reduced lifespan  may be trapped in the microcirculation, resulting in
blood vessel occlusion (vaso-occlusion) and therefore ischaemia in an organ or bone  this is exacerbated by
low oxygen tension, dehydration and cold
• The clinical manifestations of sickle cell disease vary widely between different individuals  disease severity
also varies with different forms of sickle cell disease  in general, HbSS is the most severe form of the disease
 some patients produce more HbF, which results in a marked reduction in disease severity
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Understand how sickle cell disease presents through population screening, at symptomatic diagnosis and with inter-
current problems during chronic illness management
PROPHYLAXIS
• Prophylaxis  because of increased susceptibility to infection, especially encapsulated organisms  children
should be fully immunised  including against pneumococcal, Haemophilus influenzae type B and
meningococcus infection
• To ensure full coverage of all pneumococcal subgroups  daily oral penicillin throughout childhood should be
given
• Patients should receive once-daily oral folic acid because of the increased demand for folic acid caused by the
chronic haemolytic anaemia
• Vaso-occlusive crises should be minimised by avoiding exposure to cold, dehydration, excessive exercise,
undue stress or hypoxia  this requires practical measures such as dressing children warmly, giving drinks
especially before exercise and taking extra care to keep children warm after swimming or when playing
outside in the winter
TREATMENT
• Acute crises  painful crises should be treated with oral or intravenous analgesia according to need (may
require opiates) and good hydration (oral or intravenous as required)  infection should be treated with
antibiotics  oxygen should be given if the oxygen saturation is reduced  exchange transfusion is indicated
for acute chest syndrome, stroke and priapism
• Chronic problems  children who have recurrent hospital admissions for painful vaso-occlusive crises or
acute chest syndrome may benefit from hydroxyurea  a drug which increases their HbF production and
helps protect against further crises
It requires monitoring for side-effects  especially white blood cell suppression
The most severely affected children (1–5%) who have had a stroke or who do not respond to hydroxyurea
may be offered a bone marrow transplant  this is the only cure for sickle cell disease, but can only be safely
carried out if the child has an HLA-identical sibling who can donate their bone marrow  the cure rate is 90%
but there is a 5% risk of fatal transplant-related complications
PROGNOSIS
• Sickle cell disease is a cause of premature death due to one or more of these severe complications
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• Around 50% of patients with the most severe form of sickle cell disease die before the age of 40 years 
however, the mortality rate during childhood is around 3%, usually from bacterial infection
PRENATAL DIAGNOSIS AND SCREENING

• Many countries with a high prevalence of haemoglobinopathies, including the UK  perform neonatal
screening on dried blood spots (Guthrie test) collected in the first week of life
• Early diagnosis of sickle cell disease allows penicillin prophylaxis to be started in early infancy instead of
awaiting clinical presentation  possibly due to a severe infection
• Prenatal diagnosis can be carried out by chorionic villus sampling at the end of the first trimester if parents
wish to choose this option to prevent the birth of an affected child
Be able to explain how the genetic mutations of haemoglobin lead to the signs and symptoms of homozygous and
heterozygous states of Thalassaemia with particular attention to how they present through population screening, at
symptomatic diagnosis and with inter-current problems during chronic illness management
• The β-thalassaemias occur most often in people from the Indian subcontinent, Mediterranean and Middle
East  in the UK, most affected children are born to parents from the Indian subcontinent  in the past,
many were born to Greek Cypriots, but this has become uncommon through active genetic counselling within
their community
• There are two main types of β thalassaemia  both of which are characterised by a severe reduction in the
production of β-globin  and thereby reduction in HbA production  all affected individuals have a severe
reduction in β-globin and disease severity depends on the amount of residual HbA and HbF production
o β-Thalassaemia major  this is the most severe form of the disease  HbA (α2β2) cannot be
produced because of the abnormal β-globin gene
o β-Thalassaemia intermedia  this form of the disease is milder and of variable severity  the β-
globin mutations allow a small amount of HbA and/or a large amount of HbF to be produced
CLINICAL FEATURES
• Severe anaemia  which is transfusion dependent, from 3–6 months of age and jaundice
• Failure to thrive/growth failure
• Extramedullary haemopoiesis  prevented by regular blood transfusions  in the absence of regular blood
transfusion, develop hepatosplenomegaly and bone marrow expansion  the latter leads to the classical
facies with maxillary overgrowth and skull bossing  very rare in the UK and developed countries
• Other clinical features
o Pallor
o Jaundice
o Bossing of the skull
o Maxillary overgrowth
o Splenomegaly
o Hepatomegaly
MANAGEMENT
• The condition is uniformly fatal without regular blood transfusions  so all patients are given lifelong monthly
transfusions of red blood cells  the aim is to maintain the haemoglobin concentration above 10 g/dl in order
to reduce growth failure and prevent bone deformation
• Repeated blood transfusion causes chronic iron overload, which causes cardiac failure, liver cirrhosis,
diabetes, infertility and growth failure  or this reason, all patients are treated with iron chelation with
subcutaneous desferrioxamine, or with an oral iron chelator drug, such as deferasirox, starting from 2 to 3
years of age
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• Patients who comply well with transfusion and chelation have a 90% chance of living into their forties and
beyond  however, compliance is difficult and those who cannot comply have a high mortality in early
adulthood from iron overload
• The complications of multiple transfusions are
o Iron deposition  the most important (all patients)
▪ Heart  cardiomyopathy
▪ Liver  cirrhosis
▪ Pancreas  diabetes
▪ Pituitary gland  delayed growth and sexual maturation
▪ Skin  hyperpigmentation
o Antibody formation  10% of children
▪ Allo-antibodies to transfused red cells in the patient make finding compatible blood very
difficult
o Infection – now uncommon  <10% of children
▪ Hepatitis A, B, C
▪ HIV
▪ Malaria
▪ Prions  e.g. new variant CJD
o Venous access  common problem
▪ Often traumatic in young children
▪ Central venous access device (e.g. Portacath) may be required; these predispose to infection.
• An alternative treatment for β-thalassaemia major is bone marrow transplantation  which is currently
the only cure  it is generally reserved for children with an HLA-identical sibling as there is then a 90–
95% chance of success, but a 5% chance of transplant-related mortality.
PRENATAL DIAGNOSIS
• For parents who are both heterozygous for β-thalassaemia  there is a 1 in 4 risk of having an affected child.
• Prenatal diagnosis of β-thalassaemia should be offered together with genetic counselling to help parents to
make informed decisions about whether or not to continue the pregnancy  eg. DNA analysis of a chorionic
villus sample
Β-THALASSAEMIA TRAIT
• Heterozygotes are usually asymptomatic  but the red cells are hypochromic and microcytic
• Anaemia is mild or absent  with a disproportionate reduction in MCH (18–22 fl) and MCV (60–70 fl)  he
red blood cell count is therefore usually increased (>5.5 × 1012/L)
• The most important diagnostic feature is a raised HbA2, usually about 5%  and in about half there is a mild
elevation of HbF level of 1–3%.
• β-Thalassaemia trait can cause confusion with mild iron deficiency because of the hypochromic/microcytic red
cells  but can be distinguished by measuring serum ferritin, which is low in iron deficiency but not β-
thalassaemia trait
• To avoid unnecessary iron therapy, serum ferritin levels should be measured in patients with mild anaemia
and microcytosis prior to starting iron supplements.
Α-THALASSAEMIAS
• Healthy individuals have four α-globin genes  the manifestation of α-thalassaemia syndromes depends on
the number of functional α-globin genes
• The most severe α-thalassaemia  α-thalassaemia major is caused by deletion of all four α-globin genes  so
no HbA (α2β2) can be produced  it occurs mainly in families of South-east Asian origin and presents in mid-
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trimester with fetal hydrops (oedema and ascites) from fetal anaemia  which is always fatal in utero or
within hours of delivery
• The only long-term survivors of α-thalassaemia major are those who have received monthly intrauterine
transfusions until delivery followed by lifelong monthly transfusions after birth
• The diagnosis is made by Hb electrophoresis or Hb HPLC (high-performance liquid chromatography)  which
shows only Hb Barts.
• When only three of the α-globin genes are deleted (HbH disease)  affected children have mild–moderate
anaemia but occasional patients are transfusion-dependent
• Deletion of one or two α-globin genes (known as α-thalassaemia trait) is usually asymptomatic and anaemia is
mild or absent  the red cells may be hypochromic and microcytic, which may cause confusion with iron
deficiency
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IDIOPATHIC THROMBOCYTOPENIC PURPURA (ITP)/THROMBOCYTOPENIA

Be able to describe the common ways that bleeding disorders present in childhood as congenital (eg congenital ITP,
haemophilia) or acquired conditions (eg ITP or Disseminated Intra-Vascular Coagulation)
• Thrombocytopenia is a platelet count <150 × 109/L  the risk of bleeding depends on the level of the platelet
count:
o Severe thrombocytopenia (platelets <20 × 109/L)  risk of spontaneous bleeding
o Moderate thrombocytopenia (platelets 20–50 × 109/L) at risk of excess bleeding during operations
or trauma but low risk of spontaneous bleeding
o Mild thrombocytopenia (platelets 50–150 × 109/L)  low risk of bleeding unless there is a major
operation or severe trauma.
• Thrombocytopenia may result in bruising, petechiae, purpura and mucosal bleeding  e.g. epistaxis, bleeding
from gums when brushing teeth  major haemorrhage in the form of severe gastrointestinal haemorrhage,
haematuria and intracranial bleeding is much less common
• The causes of easy bruising and purpura are  while purpura may signify thrombocytopenia, it also occurs
with a normal platelet count from platelet dysfunction and vascular disorders.
o Increased platelet destruction or consumption
▪ Immune  ITP, SLE, alloimmune neonataly thrombocytopenia
▪ Non-immune  haemolytic uraemic syndrome, thrombotic thrombocytopenic purpura, DIC,
congenital heart disease, giant haemangiomas, hypersplenism
o Impaired platelet production
▪ Congenital  Fanconi anaemia, Wiskott-Aldrich syndrome, Bernard-Soulier syndrome
▪ Acquired  aplastic anaemia, marrow infiltration (leukaemia), drug-induced
o Platelet dysfunction
▪ Congenital  rare disorders – eg. Glanzmann thromboasthenia
▪ Acquired  uraemia, cardiopulmonary bypass
o Vascular disorders
▪ Congenital  Ehlers-Danlos, Marfan syndrome
▪ Acquired  meningococcal, vasculitis (SLE, Henoch-Schonlein purpura), scurvy
IMMUNE THROMBOCYTOPENIA (ITP)

• Immune thrombocytopenia is the commonest cause of thrombocytopenia in childhood  it has an incidence
of around 4 per 100 000 children per year
• It is usually caused by destruction of circulating platelets by anti-platelet IgG autoantibodies  the reduced
platelet count may be accompanied by a compensatory increase of megakaryocytes in the bone marrow.
• Most children present between the ages of 2 and 10 years  with onset often 1–2 weeks after a viral
infection  there is usually a short history of days or weeks
• Affected children develop petechiae, purpura and/or superficial bruising  it can cause epistaxis and other
mucosal bleeding but profuse bleeding is uncommon, despite the fact that the platelet count often falls to
<10 × 109/L
• Intracranial bleeding is a serious but rare complication  occurring in 0.1–0.5% mainly in those with a long
period of severe thrombocytopenia
• ITP is a diagnosis of exclusion  so careful attention must be paid to the history, clinical features and blood
film to ensure that another more sinister diagnosis is not missed  in the younger child, a congenital cause
(such as Wiskott–Aldrich or Bernard–Soulier syndromes) should be considered
• Any atypical clinical features should prompt a bone marrow examination to exclude acute leukaemia or
aplastic anaemia  such as the presence of anaemia, neutropenia, hepatosplenomegaly or marked
lymphadenopathy
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• A bone marrow examination should also be performed if the child is going to be treated with steroids  since
this treatment may temporarily mask the diagnosis of acute lymphoblastic leukaemia (ALL)  inadvertent
steroid therapy in undiagnosed ALL mimicking ITP will compromise the long-term outcome of such patients
• Systemic lupus erythematosus (SLE) should also be considered  however, if the clinical features are
characteristic, with no abnormality in the blood other than a low platelet count and no intention to treat,
there is no need to examine the bone marrow
HAMEOPHILIA
• The disorder is graded depending on FVIII:C (or IX:C in haemophilia B)  the severity usually remains constant
within a family
o Mild  factor VIII:C = >5-40%  bleed after surgery
o Moderate  factor VIII:C = 1-5%  bleed after minor trauma
o Severe  factor VIII:C = <1%  spontaneous joint/muscle bleeds
• The hallmark of severe disease is recurrent spontaneous bleeding into joints & muscles  which can lead to
crippling arthritis if not properly treated
• Most children present towards the end of the first year of life  when they start to crawl or wall (and fall
over)
• Bleeding episodes are most frequent in joints & muscles  where there is no family history, non-accidental
injury may initially be suspected
• Almost 40% of cases present in the neonatal period  particularly with intracranial haemorrhage, bleeding
post-circumcision or prolonged oozing from heel stick & venepuncture sites
DISSEMINATED INTRAVASCULAR COAGULATION

• DIC may be acute or chronic  is likely to be initiated through the tissue factor pathway
o Bruising
o Purpura
o Haemorrhage
• Pathophysiological process is characterised by microvascular thrombosis  purpura fulminans may occur
Be able to outline the principles of acute and chronic management of bleeding disorders of childhood dependant upon
their cause
• In about 80% of children  the disease is acute, benign and self-limiting  usually remitting spontaneously
within 6–8 weeks
• Most children can be managed at home and do not require hospital admission  treatment is controversial
• Most children do not need any therapy even if their platelet count is <10 × 109/L  but treatment should be
given if there is evidence of major bleeding (e.g. intracranial or gastrointestinal haemorrhage) or persistent
minor bleeding that affects daily lives  such as excessive epistaxis or menstrual bleeding
• The treatment options include  all have significant side-effects
o Oral prednisolone
o Intravenous anti-D
o Intravenous immunoglobulin
• Platelet transfusions are reserved for life-threatening haemorrhage  as they raise the platelet count only for
a few hours
• The parents need immediate 24-hour access to hospital treatment, and the child should avoid trauma, as far
as possible, and contact sports while the platelet count is very low.
CHRONIC ITP
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• In 20% of children  the platelet count remains low 6 months after diagnosis  this is known as chronic ITP
• In the majority of children, treatment is mainly supportive  drug treatment is only offered to children with
chronic persistent bleeding that affects daily activities or impairs quality of life  children with significant
bleeding are rare and require specialist care
• A variety of treatment modalities are available  including rituximab, a monoclonal antibody directed against
B lymphocytes  newer agents such as thrombopoietic growth factors have shown clinical response in adults
and may be used in children with severe non-responsive disease
• Splenectomy can be effective for this group  but is mainly reserved for children who fail drug therapy as it
significantly increases the risk of infections and patients require lifelong antibiotic prophylaxis
• If ITP in a child becomes chronic  regular screening for SLE should be performed  as the
thrombocytopenia may predate the development of autoantibodies
VON WILLEBRAND DISEASE

• von Willebrand disease  results from either a quantitative or qualitative deficiency in von Willebrand factor
 responsible for platelet adhesion and as a carrier protein for factor VIII
• This causes a defective plug formation and since vWF is a carrier protein for factor eight  patients with vWD
also are deficient for this factor
• There are many different mutations  the inheritance is usually dominant  the commonest subtype, type 1
(60- 80%), is usually fairly mild and is often not diagnosed until puberty or adulthood
• Clinical features are
o Bruising
o Prolonged bleeding after surgery
o Mucosal bleeding
o Spontaneous soft tissue bleeding is uncommon.
• Treatment depends on severity  but can be treated with DDAVP which causes secretion of both factor eight
and vWF into the plasma  use in caution in under 1 year as it can cause hyponatraemia and seizures if fluid
intake is not adequate  more severe forms need treating with plasma derived factor eight  IM injections,
aspirin and NSAIDs should all be avoided.
ACQUIRED DISORDERS OF COAGULATION

• The main acquired conditions are
o Haemorrhagic disease of the newborn  vitamin K deficiency
o Liver disease
o ITP
o DIC
o Inadequate intake, malabsorption or vitamin K antagonists can all be a cause.
DIFFERENTIATING BETWEEN BLEEDING DISORDER

• Age of onset
o Neonate – 20% of haemophilias present here  
o Toddler – haemophilias may present when starting to walk  
o Adolescent – vWD with menorrhagia  Family history  
• Family history  if all boys then suggests haemophilia
• Bleeding history  if bleeding is ok in some situations then it suggests a bleeding tendency rather than an
inherited disorder
• Drug history  
• Pattern of bleeding  
o Mucous membranes and skin  platelet disorders or vWD  
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o Bleeding into muscles or joints  haemophilia  
o Scarring and delayed haemorrhage  suggestive of disorders of connective tissue  
Offer children (or their carers) with low platelet counts health advice relating to their condition
• Avoid injury  including contact sports
• Know avalibale treatments  acute & chronic
• Have an action plan for if severe haemorrhage occurs
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HAEMOPHILIA
Understand the genetics, presenting features and management
GENETICS
• The commonest severe inherited coagulation disorders are haemophilia A and haemophilia B  both have X-
linked recessive inheritance
• In haemophilia A  there is a FVIII deficiency  it has a frequency of 1 in 5000 male births
• In haemophilia B  there is a FIX deficiency  it has a frequency of 1 in 30,000 male births
• 2 in 3 of newly diagnosed infants have a family history of haemophilia  whereas 1 in 3 are sporadic 
identifying female carriers requires a detailed family history, analysis of coagulation factors & DNA analysis 
prenatal diagnosis is available using DNA analysis
CLINICAL FEATURES
• The disorder is graded depending on FVIII:C (or IX:C in haemophilia B)  the severity usually remains constant
within a family
o Mild  factor VIII:C = >5-40%  bleed after surgery
o Moderate  factor VIII:C = 1-5%  bleed after minor trauma
o Severe  factor VIII:C = <1%  spontaneous joint/muscle bleeds
• The hallmark of severe disease is recurrent spontaneous bleeding into joints & muscles  which can lead to
crippling arthritis if not properly treated
• Most children present towards the end of the first year of life  when they start to crawl or wall (and fall
over)
• Bleeding episodes are most frequent in joints & muscles  where there is no family history, non-accidental
injury may initially be suspected
• Almost 40% of cases present in the neonatal period  particularly with intracranial haemorrhage, bleeding
post-circumcision or prolonged oozing from heel stick & venepuncture sites
MANAGEMENT
• Prompt IV infusion whenever there is any bleeding of recombinant FVIII/FIX for haemophilia A or B
respectively  recombinant products are unavailable - highly purified, virally inactivated plasma-derived
products should be used  the quantity depends on the site and nature of the bleed
• In general, raising the circulating level to 30% of normal is sufficient to treat minor bleeds and simply joint
bleeds  major surgery or life-threatening bleeds require the level to be raised to 100% and then maintained
at 30-50% for up to 2 weeks to prevent secondary haemorrhage  this can only be achieved by regular
infusion of factor concentrate (FVIII – 8-12hrs & FIX – 12-24hrs, or my continuous infusion) and by closely
monitoring plasma levels
• NB – intramuscular injections, aspiring & NSAIDs should be avoided in all patients with haemophilia
• Home treatment is encourage to avoid delay in treatment  which increases the risk of permanent damage
 eg. progressive arthropathy
• Parents are usually taught to give replacement therapy at home when the child is 2-3yrs of age and many
children are able to administer their own treatment from 7-8yrs
• Prophylactic FVIII is given to all children with severe haemophilia A to further reduce the risk of chronic joint
damage by raising the baseline level about 2%
• Primary prophylaxis usually begins at age 2-3yrs  is given 2-3 times per week  if peripheral venous access
is poor, a central venous access device (eg. Portacath) may be required  prophylaxis has been shown to
results in better joint function in adult life  similarly, patients with severe haemophilia B are usually given
prophylactic FIX
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• Desmopressin (DDAVP) may allow mild haemophilia A to be managed without the use of blood products  it
is given by infusion and stimulates endogenous release of FVIII:C and von Willebrand factor (vWF) 
adequate levels can be achieved to enable minor surgery and dental extraction to be undertaken  DDAVP is
ineffective in haemophilia B
• Haemophilia centres should supervise the management of children with bleeding disorders  they provide a
multidisciplinary approach with expert medical, nursing and laboratory input
• Specialised physiotherapy is needed to preserve muscle strength and avoid damage from immobilisation
• Psychosocial support is an integral part of maintaining compliance
• Self-help groups  such as the Haemophilia Society may provide families with helpful information and
support
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SOLID TUMOURS
Describe the organ / system of origin, the typical signs and symptoms and common clinical associations of Lymphoma
• Lymphomas  are malignancies of the cells of the immune system  can be divided into Hodgkin and non-
Hodgkin lymphoma (NHL)
• NHL is more common in childhood  while Hodgkin lymphoma is seen more frequently in adolescence
HODGKIN LYMPHOMA
• Classically presents with painless lymphadenopathy  most frequently in the neck
• Lymph nodes are much larger and firmer than the benign lymphadenopathy commonly seen in young children
 the lymph nodes may cause airways obstruction
• The clinical history is often long (several months) and systemic symptoms are uncommon, even in more
advanced disease  eg. sweating, pruritus, weight loss and fever – the so-called ‘B’ symptoms
• Pressure from a mass on local structures or tissue can cause complications  e.g. airway obstruction
secondary to enlarged lymph nodes
• Lymph node biopsy, fadiological assessment of all nodal sites and bone marrow biopsy  used to stage
disease and determine treatment
• Combination chemotherapy with or without radiotherapy  positron emission tomography (PET) scanning is
used in the UK to monitor treatment response and guide further management
• Overall, about 80% of all patients can be cured  even with disseminated disease, about 60% can be cured
NON-HODGKIN LYMPHOMA
• T-cell malignancies may present as acute lymphoblastic leukaemia or non-Hodgkin lymphoma  with both
being characterised by a mediastinal mass with varying degrees of bone marrow infiltration  the mediastinal
mass may cause superior vena caval obstruction
• B-cell malignancies present more commonly as non-Hodgkin lymphoma  with localised lymph node disease
usually in the head and neck or abdomen
• Abdominal disease presents with pain from intestinal obstruction, a palpable mass or even intussusception in
cases with involvement of the ileum
• Investigation  biopsy, radiological assessment of all nodal sites (CT or MRI) and examination of the bone
marrow and CSF
• Management  multi-agent chemotherapy  the majority of patients now do well and survival rates of over
80% are expected for both T- and B-cell disease
Outline the main features and differences of Non-Hodgkin’s (NHL T and B Cell) and Hodgkin’s Lymphoma
• Hodgkin’s lymphoma has reed-sternberg cells  
• Hodgkin’s lymphoma often starts in the upper body  
• Hodgkin’s spreads very slowly and is very receptive to chemotherapy and radiotherapy
Be aware of the long term complications of tumour treatment as a consequence of chemotherapy, radiotherapy and
surgery including how development, growth, puberty and fertility can be affected
CHEMOTHERAPY
• This is used:
o as primary curative treatment  e.g. in acute lymphoblastic leukaemia
o to control primary or metastatic disease before definitive local treatment with surgery and/or
radiotherapy  e.g. in sarcoma or neuroblastoma
o as adjuvant treatment to deal with residual disease and to eliminate presumed micrometastases 
e.g. after initial local treatment with surgery in Wilms tumour
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• The use of biologically targeted therapies and their role in combination with conventional treatment
modalities is an area of active research that is likely to increase in importance in the near future
• Side effects of chemotherapy include • In the long term it can cause
o Hair loss o Delayed puberty
o Anaemia o Reduced fertility
o Infection o Reduced growth
o Bruising o Neurotoxicity
o Sore mouth o Hepatotoxicity
o Nausea o Renal toxicity
o Vomiting o Cardiotoxicity
o Mood changes o Pulmonary toxicity
o Irritability o Secondary cancer
o Weight gain o Psychological effects
RADIOTHERAPY
• This retains a role in the treatment of some tumours  but the risk of damage to growth and function of
normal tissue is greater in a child than in an adult
• The need for adequate protection of normal tissues and for careful positioning and immobilisation of the
patient during treatment raises practical difficulties  particularly in young children
SURGERY
• Initial surgery is frequently restricted to biopsy to establish the diagnosis  more extensive operations are
usually undertaken to remove residual tumour after chemotherapy and/or radiotherapy
HIGH-DOSE THERAPY WITH BONE MARROW RESCUE

• The limitation of both chemotherapy and radiotherapy is the risk of irreversible damage to normal tissues 
particularly bone marrow
• Transplantation of bone marrow stem cells can be used as a strategy to intensify the treatment of patients
with the administration of potentially lethal doses of chemotherapy and/or radiation  the source of the
marrow stem cells may be
o Allogeneic  from a compatible donor
o Autologous  from the patient him/herself, harvested beforehand, while the marrow is uninvolved
or in remission
• Allogeneic transplantation is principally used in the management of high-risk or relapsed leukaemia and
autologous stem cell support is used most commonly in the treatment of children with solid tumours whose
prognosis is poor using conventional chemotherapy  e.g. advanced neuroblastoma.
Describe the organ / system of origin, the typical signs and symptoms and common clinical associations of
Neuroblastoma
• Neuroblastoma and related tumours arise from neural crest tissue in the adrenal medulla and sympathetic
nervous system  it is a biologically unusual tumour in that spontaneous regression sometimes occurs in very
young infants
• There is a spectrum of disease from the benign (ganglioneuroma) to the highly malignant (neuroblastoma) 
neuroblastoma is most common before the age of 5 years.
CLINICAL FEATURES
• At presentation most children have an abdominal mass  but the primary tumour can lie anywhere along the
sympathetic chain from the neck to the pelvis  classically, the abdominal primary is of adrenal origin, but at
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presentation the tumour mass is often large and complex, crossing the midline and enveloping major blood
vessels and lymph nodes
• Paravertebral tumours may invade through the adjacent intervertebral foramen  causes spinal cord
compression
• Over the age of 2 years  clinical symptoms are mostly from metastatic disease, particularly bone pain, bone
marrow suppression causing weight loss and malaise (see Case History 21.3).
• Common clinical features • Less common clinical features
o Pallor o Paraplegia
o Weight loss o Cervical lymphadenopathy
o Abdominal mall o Proptosis
o Hepatomegaly o Periorbital bruising
o Bone pain o Skin nodules
o Limp
INVESTIGATIONS
• Characteristic clinical and radiological features with raised urinary catecholamine levels suggest
neuroblastoma  confirmatory biopsy is usually obtained and evidence of metastatic disease detected with
bone marrow sampling, MIBG (metaiodobenzyl-guanidine) scan with or without a bone scan
• Age and stage of disease at diagnosis are the major factors which influence prognosis  unfortunately, the
majority of children over 1 year present with advanced disease and have a poor prognosis
• Increasingly, information about the biological characteristics of neuroblastoma is being used to guide therapy
and prognosis
• Overexpression of the N-myc oncogene  evidence of deletion of material on chromosome 1 (del 1p) and
gain of genetic material on chromosome 17q in tumour cells are all associated with a poorer prognosis
MANAGEMENT
• Localised primaries without metastatic disease can often be cured with surgery alone
• Metastatic disease is treated with chemotherapy  including high-dose therapy with autologous stem cell
rescue, surgery and radiotherapy
• Risk of relapse is high and the prospect of cure for children with metastatic disease is still little better than
30%  immunotherapy and the use of long-term ‘maintenance’ treatment with differentiating agents
(retinoic acid) are now establishing a role in those with high-risk disease
Describe the organ/system of origin, the typical signs and symptoms and common clinical associations of Wilms tumour
246
• Wilms tumour originates from embryonal renal tissue  is the commonest renal tumour of childhood  over
80% of patients present before 5 years of age and it is very rarely seen after 10 years of age
• Most children present with a large abdominal mass  often found incidentally in an otherwise well child
• Uncommon clinical features
o Abdominal pain
o Anorexia
o Anaemia  haemorrhage into mass
o Haematuria
o Hypertension
• Ultrasound and/or CT/MRI is usually characteristic  showing an intrinsic renal mass distorting the normal
structure
• Staging is to assess for distant metastases (usually in the lung), initial tumour resectability and function of the
contralateral kidney
• In the UK, children receive initial chemotherapy followed by delayed nephrectomy  after which the tumour
is staged histologically and subsequent treatment is planned according to the surgical and pathological
findings  radiotherapy is restricted to those with more advanced disease
• Prognosis is good  with more than 80% of all patients cured  cure rate for patients with metastatic
disease at presentation (∼15%) is over 60%, but relapse carries a poor prognosis.
Be aware of the features of soft tissue sarcomas, osteosarcoma and Ewings tumours
TISSUE SARCOMAS
• Rhabdomyosarcoma  is the most common form of soft tissue sarcoma in childhood  the tumour is
thought to originate from primitive mesenchymal tissue  there are a wide variety of primary sites, resulting
in varying presentations and prognosis
• Head and neck are the most common sites of disease (40%), causing e.g. proptosis, nasal obstruction or
bloodstained nasal discharge
• Genitourinary tumours may involve  the bladder, paratesticular structures or the female genitourinary tract
 symptoms include dysuria and urinary obstruction, scrotal mass or bloodstained vaginal discharge
• Metastatic disease (lung, liver, bone or bone marrow) is present in approximately 15% of patients at diagnosis
 it is associated with a particularly poor prognosis.
• Biopsy and full radiological assessment of primary disease and any evidence of metastasis
• Multimodality treatment is used  dependent on the age of the patient and the site, size and extent of
disease  the tumour margins are deceptively ill-defined, and attempts at primary surgical excision are often
unsuccessful and are not attempted unless this can be achieved without mutilation or irreversible organ
damage  overall cure rates are about 65%
OSTEOSARCOMA
• This is the most common type of bone cancer in children  arising at the end of the bones  the bones most
frequently involved are the large bones of the upper arm (humerus) and leg (femur and tibia)
• Usually occur between the age of 10 and 25  more common in males
• Young people with this type of cancer generally complain of pain and swelling  which they may blame on
injury
• Diagnosis can be difficult  but relies on the x-ray picture and a biopsy
• Treatment is surgical (amputation or limb sparing) followed by chemotherapy
EWINGS TUMOURS
• Malignant bone tumours are uncommon before puberty  osteogenic sarcoma is more common than Ewing
sarcoma, but Ewing sarcoma is seen more often in younger children  both have a male predominance
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• The limbs are the most common site  persistent localised bone pain is the characteristic symptom, usually
preceding the detection of a mass  it is an indication for early X-ray
• At diagnosis, most patients are otherwise well.
• Plain X-ray is followed by MRI and bone scan  a bone X-ray shows destruction and variable periosteal new
bone formation  in Ewing sarcoma, there is often a substantial soft tissue mass
• Chest CT is used to assess for lung metastases and bone marrow sampling to exclude marrow involvement
• In both tumours, treatment involves the use of combination chemotherapy given before surgery  whenever
possible, amputation is avoided by using en bloc resection of tumours with endoprosthetic resection
• In Ewing sarcoma, radiotherapy is also used in the management of local disease, especially when surgical
resection is impossible or incomplete  e.g. in the pelvis or axial skeleton.
Be aware of the common presenting features of Retinoblastoma

• Retinoblastoma is a malignant tumour of retinal cells  although rare, it accounts for about 5% of severe
visual impairment in children
• It may affect one or both eyes  all bilateral tumours are hereditary, as are about 20% of unilateral cases.
• The retinoblastoma susceptibility gene is on chromosome 13  the pattern of inheritance is dominant, but
with incomplete penetrance
• Most cases present within the first 3 years of life  children from families with the
hereditary form of the disease should be screened regularly from birth
• The most common presentation of unsuspected disease is when a white pupillary reflex
is noted to replace the normal red one or with a squint
• MRI and examination under anaesthetic  tumours are frequently multifocal.
• The aim is to cure, yet preserve vision  biopsy is not undertaken and treatment is based on the
ophthalmological findings
• Enucleation of the eye may be necessary for more advanced disease
• Chemotherapy is used to shrink the tumour(s), followed by local laser treatment to the retina  particularly
in bilateral disease
• Radiotherapy may be used in advanced disease  but it is more often reserved for the treatment of
recurrence
• Most patients are cured, although many are visually impaired  there is a significant risk of second
malignancy (especially sarcoma) among survivors of hereditary retinoblastoma
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DISSEMINATED INTRAVASCULAR COAGULATION (DIC)

Outline the main causes and the clotting abnormalities
• Disseminated intravascular coagulation (DIC)  abnormal blood clotting causes widespread microvascular
thrombosis and consumption of clotting factors  if bleeding occurs, clotting derangement should be
corrected with FFP and platelet transfusion
• DIC describes a disorder characterised by coagulation pathway activation leading to diffuse fibrin deposition in
the microvasculature and consumption of coagulation factors and platelets
• The commonest causes of activation of coagulation are severe sepsis or shock due to circulatory collapse 
eg. meningococcal septicaemia  or extensive tissue damage from trauma or burns
• DIC may be acute or chronic  is likely to be initiated through the tissue factor pathway
o Bruising
o Purpura
o Haemorrhage
• Pathophysiological process is characterised by microvascular thrombosis  purpura fulminans may occur
• No single test reliably diagnoses DIC  should be suspected when the following abnormalities co-exist
o Thrombocytopenia
o Prolonged prothrombin time (PT)
o Prolonged APTT
o Low fibrinogen
o Raised fibrinogen degradation products
o D-dimers
o Microangiopathic haemolytic anaemia
• NB – there is also usually a marked reduction in the naturally occurring anti-coagulants, proteins C & S and
anti-thrombin
• Management is to treat the underlying causes while still providing intensive care  supportive care may be
provided with FFP (to replace clotting factors), cryoprecipitate and platelets  anti-thrombin and protein C
concentrates have been used, particularly in severe meningococcal septicaemia with purpura fulminans 
the use of heparin remains controversial
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SPLENECTOMY
Be able to discuss the justification of and the risks and precautions necessary to take prior to splenectomy
• A variety of chronic illnesses may make it necessary to remove a spleen  such as
o Hereditary spherocytosis
o Lymphoma
o Idiopathic thrombocytopenic purpura (IPT)
• While rare, trauma to the spleen with uncontrolled bleeding can create a situation where emergency spleen
removal is necessary
• Prior to splenectomy immunisations are given to prevent
o Pneumococcus
o Hib
o Meningococcus
o Influenza.
• Low dose antibiotics are likely to be needed for life after the operation  a high dose course should be kept
around the house just in case
• There is also a particularly high risk of developing malaria in patients without a spleen  so caution should be
taken when travelling abroad
• It is recommended that the child wears a special bracelet or necklet containing this medical information
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Endocrinology & Growth CP2 Learning Objectives Child Health
ENDOCRINOLOGY & GROWTH

HYPOGLYCAEMIA
Understand the diagnostic criteria and causes of hypoglycaemia from infancy through to adolescence
DIAGNOSTIC CRITERIA
• Hypoglycaemia is defined as plasma glucose <2.2-2.6mmol/L  although the development of clinical features
will depend on whether other energy substrates can be utilized
• Clinical features include
o Sweating
o Pallor
o CNS signs
▪ Irritability
▪ Headache
▪ Seizures
▪ Coma
• The neurological sequelae may be permanent if hypoglycaemia persists  include epilepsy, severe learning
difficulties and microcephaly  this risk is greatest in early childhood during the period of most rapid brain
growth
CAUSES
Endocrine Metabolic Toxic Hepatic Systemic
Hyperinsulinism Glycogen storage disease Salicylates Hepatitis Starvation
Hypopituitarism Glactosaemia Alcohol Cirrhosis Malnutrition
Growth hormone insufficiency Organic acidaemia Insulin Reye Sepsis
syndrome
Hypothyroidism Ketotic hypoglycaemia Valporate Malabsorption
Congenital adrenal Carnitine deficiency
hyperplasia
Acyl-CoA dehydrogenase
deficiency
• Infants have high energy requirements and relatively poor reserves of glucose from gluconeogenesis and
glycogenesis  they are at risk of hypoglycaemia with fasting  infants should never be starved for more
than 4hrs
• A blood glucose should be checked in any child who
o Becomes septicaemic or appears seriously ill
o Has a prolonged seizure
o Develops an altered state of consciousness
• Ketotic hypoglycaemia is a poorly-defined entity in which young children readily become hypoglycaemic
following a short period of starvation, probably due to limited reserves for gluconeogenesis  the child is
often short & think with low insulin levels  the condition resolves spontaneously in later life
• A number of rare endocrine & metabolic disorders may present with hypoglycaemia at almost any age of
childhood  hepatomegaly would suggest the possibility of an inherited glycogen storage disorder, in which
hypoglycaemia can be profound
• Transient neonatal hypoglycaemia in neonates may be due to exposure of high levels of insulin in utero if
mothers are diabetic or glucose intolerant
• In contrast, recurrent hypoglycaemia can be caused by persistent hypoglycaemic hyperinsulinism of infancy
(PHHI)  this is a rare disorder of infancy, where there are gene mutations of various pathways leading to
dysregulation of insulin release by the islet cells of the pancreas leading to profound non-ketotic
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hypoglycaemia  treatment with high concentration dextrose solutions and diazoxide may be required to
maintain safe blood sugar levels pending investigation  special scans reveal that up to 40% of cases are
caused by localized lesions in the pancreas amenable to partial resection  although the majority of cases
either require long-term medication or total pancreatectomy with the attendant risk of diabetes and exocrine
pancreatic insufficiency
• Fasting causes of hypoglycaemia
o Insulin excess
▪ Excess exogenous insulin  eg DM or administered insulin
▪ Beta cell tumours/disorders  PHHI or insulinoma
▪ Drug-induced  sulphonylurea
▪ Autoimmune  insulin receptor antibodies
▪ Beckwith syndrome
o Without hyperinsulinaemia
▪ Liver disease
▪ Ketotic hypoglycaemia of childhood
▪ Inborn errors of metabolism  eg. glycogen storage disorders
▪ Hormonal deficiency  GH, ACTH, Addison disease, congenital adrenal hyperplasia
• Reactive/Non-fasting causes of hypoglycaemia
o Galactosaemia
o Leucine sensitivity
o Fructose intolerance
o Maternal diabetes
o Hormonal deficiency
o Aspirin/Alcohol poisoning
Outline the initial treatment and investigations of hypoglycaemia

INVESTIGATIONS
• Confirm hypoglycaemia with laboratory blood glucose
• Test blood for U&Es, LFTs, osmolality & blood gas
• Test for
o Growth hormone o Fatty acids o Acylcarnitine
o IGF-1 o Ketones profile
o Cortisol o Glycerol o Lactate
o Insulin o Branched- o Pyruvate
o C-peptide chained AA
• Looks for organic acids in first urine after hypoglycaemia
• Consider saving blood and urine for toxicology  eg. salicylate or suphonylurea
TREATMENT
• Hypoglycaemia can usually be corrected with an IV infusion of glucose  2ml/kg of 10% dextrose followed by
10% dextrose infusion
• Care must be taken to avoid giving an excess volume as the solution is hypertonic and could causes cerebral
oedema
• If there is delay in establishing an infusion or failure to respond  glucagon is give IM (0.5-1mg)
• If a higher concentration than a 10% solution is required in a neonate  the low sugar is highly likely to be
secondary to hyperinsulinaemia
• Corticosteroids may also be used if there is a possibility of hypopituitarism or hypoadrenalism
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• The correction of hypoglycaemia must always be documented with satisfactory laboratory glucose
measurement
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INSULIN DEPENDENT DIABETES MELLITIS (IDDM)/DIABETIC KETOACIDOSIS (DKA)

Outline the epidemiology of diabetes in children
• The incidence of diabetes in children has increased steadily over the last 20yrs  now affects 1 in 500
children by 16y/o
• It has been estimated that the incidence of childhood diabetes will double by 2020 in developed countrie 
this is mostly likely to be the result of changes in environmental risk factors  although the exact causes
remain obscure
• There is considerable racial and geographical variation  this condition is more common in northern
countries, with high incidence in Scotland & Finland
• Almost all children have T1DM, requiring insulin from the outset  T2DN due to insulin resistance is starting
to occur in childhood as severe obesity becomes more common and in some ethnic groups
• An identical twin of a diabetic has a 30- 40% change of developing the disease  the risk is 1/40 if the father
is affected or 1/80 if the mother is
Be aware of the associated problems/diseases

• Children usually present with only a few weeks of
o Polyuria
o Excessive thirst
o Weight loss
o Nocturnal enuresis  young children
• Most children are diagnose at this early stage and advanced DKA has become an uncommon presentation
• Less common symptoms include
o Enuresis
o Skin sepsis
o Candida infection
• DM is diagnosed by a glucose >11.1mmol/L, glucosuria and ketonuria  if there is a doubt, then fasting
glucose should be >7mmol/L to be positive, or a raised HbA1c
• T2DM should be suspected if there is a family history, the child is from the Indian subcontinent and in severely
obese children with signs of insulin resistance
Understand the principles of non-medical and medical treatment

• Initial management depends on the patient’s condition, but may require hospital admission and treatment
• Most children are alert and can be managed by SC insulin alone  IV fluids are given if there is vomiting or
dehydration
• An intensive education programme is then given, which includes
o The basic understanding
o Injection techniques
o Diet
o Adjustments of insulin for sickness or exercise
o Blood glucose check
o Recognition of hypoglycaemia
o Where to get help
o Support groups & psychological support
INSULIN
• Insulin is modified to be human and is in concentrations of 100 units/ml  there are 4 main types
o Rapid acting  rapid onset, short duration
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o Short acting  onset in 30-60mins and peak at 2-4hrs with duration of 8hrs  given 15-30min before
meal
o Intermediate acting  onset after 1-2hrs and peak at 4-12hrs
o Predetermined preparations of short & intermediate acting insulin
• Insulin can be administered by an infusion, by pump or by injection  it is given SC in the upper arm,
anterior/lateral thigh, buttocks and abdomen  to avoid complications (eg. lipohypertrophy) the skin should
be pinched and the needle inserted at 45o, with sites being rotated frequently
• Most infants are started on an insulin pump or 3-4 times/day injection regimen (basal bolus) with a short
acting insulin before snacks (bolus) and a long acting insulin in the evening (basal)
• Normally, requirements are 0.5-1U/kg in children  but this can increase to >2U/kg/day in puberty
DIET
• Should be matched to the insulin regimen  the aim is to maintain control whilst getting good growth
• High complex carbohydrates are recommended and relatively low fat content  <30% of calories
• The diet should be high in fibres  avoidance of food that will cause rapid sugar highs
BLOOD GLUCOSE MONITORING

• Regular monitoring is important as insulin regimens can be changed accordingly  the aim is to maintain
blood glucose at 4-6mmol/L, but in practice this is 4-10 in children and 4-8 in adults  to avoid
hypoglycaemia
• SC glucose monitoring is being developed, but is not yet universally used  measuring HbA1c is useful to
check long term control over 6-12 weeks and should be checked at least x3 per year
• The level of HbA1c is related to long term risk  this is an exponential relationship  eg. a small increase in
levels equals a big increase in risk
• The aim is to keep the levels below 7.5% or <58mmol/L
HYPOGLYCAEMIA
• Children usually develop well defined symptoms when blood glucose drops <4mmol/L  these are the same
as for hypoglycaemia and will be treated in the same way
• Firstly, a hypo remedy should be tried before moving onto IM glucagon  eg. sugary drink
• Once a sugary drink has been given, another complex carbohydrate should be given to maintain control
ADOLESCENCE
• Adherence is a massive problem in adolescents, especially regular blood glucose monitoring  this can be
due to smoking, alcohol, drugs or due to body image
• This may be helped by establishing clear short-term goals, an enthusiastic effort to improve long term control,
a united team approach and positive peer group pressure from activities
• NB – in puberty, the level of insulin needed rises due to antagonism by GH, oestrogen and testosterone
Appreciate the need for multi-disciplinary team involvement

• Same MDT as any long term condition  with addition of Specialist Diabetic Nurses
Outline the short and long term complications

• The aims of long term management are:
o Normal growth & development
o Maintaining a normal home and school life
o Good diabetic control through knowledge and technique
o Encourage self reliance but with adult supervision initially
o Avoidance of hypoglycaemia  
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o Prevention of long term complications and maintenance of good glucose control
• Problems in diabetic control are
o Eating too many sweets at parties or at school
o Infrequent or unreliable blood glucose monitoring  sometimes made up to impress doctor
o Illness  these are common in the young and can affect appetite as well as increase insulin 
therefore the dose needs titrating appropriately.  
o Exercise  prolonged exercises requires a decrease in insulin and more glucose, especially before
going to sleep  
o Eating disorders  common in young girls  
o Family disturbances  eg. divorce etc
o Poor motivation and support
• Prevention of long term complications  meticulous control when young helps reduce the risk of diabetic
nephropathy/retinopathy/neuropathy and also slows progress  a good early control can also help
compensate if control deteriorates later on in life
• The complications that need assessment later in life
o Growth & pubertal development  some delay may occur and obesity is common, particularly in girls
o Blood pressure  check once a year for hypertension
o Renal disease  screen for microalbuminuria yearly
o Eyes  retinopathy is rare in children, but should be checked 5 years after diagnosis or from the
onset of puberty
o Feet  encourage good care and avoid tight shoes or infections by treating early
• Coeliac disease & thyroid disease are commonly associated with T1Dm and are easily missed  there should
also be a low threshold for investigating other autoimmune disorders
Describe the presenting features and initial management of DKA

o Smell of acetone on breath
o Vomiting
o Dehydration
o Abdominal pain
o Hyperventiliation due to acidosis
o Hypovolaemic shock
o Drowsiness
o Coma & death
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CONSTITUTIONAL DELAY IN GROWTH

Be able to exclude pathological causes of short stature
• Short stature is defined as a height below the 2nd or 0.4th centile  most of these children will be normal, but
short and with short parents  however, the further below the centile the child is, the more like it is that
there wil be a pathological cause
• Measuring height velocity is a sensitive indicator of growth failure  a height velocity persistently below the
25th centile is abnormal and children will eventually become short
• The height centile must be compared to the weight centile and an estimate of their genetic target centile and
range calculated from parental heights
• There are many potential causes of short stature
o Familial
o IUGR or prematurity
o Constitutional delay of growth & puberty
o Endocrine
▪ Hypothyroidism
▪ Growth hormone deficiency
▪ Cushing syndrome
o Nutrition or chronic illness
o Psychosocial deprivation
o Chromosomal disorder/syndrome
• Familial  most short children have short parents, but care needs to be taken to ensure both parent and
child do not have a genetic condition
• IUGR & extreme prematurity  about 1 in 3 of these children remain short and GH treatment may be
indicated
• Constitutional delay of growth & puberty  these children have delayed puberty which is often familial,
usually having occurred in the parent of the same sex  it is commoner in males and is a variation of the
normal timing of puberty rather than an abnormal condition  it may be induced by dieting or excessive
exercise  a child will have delayed sexual changes compared to peers and bone age would show moderate
delay  the legs will be long in comparison to the back, but eventually the target height should be reached 
puberty can be started by androgens or oestrogens if needed
• Endocrine  hypothyroidism, GH deficiency and steroid excess are uncommon causes of short stature, but
they are associated with children being relatively overweight
o Hypothyroidism  this is usually caused by autoimmune thyroiditis during childhood  this produces
growth failure, usually with excess weight gain  it can go undiagnosed from many years and cause
short stature  when treated, catch-up growth rapidly occurs, but often with rapid entry into
puberty that can limit final height  congenital hypothyroidism is usually noted shortly after birth, so
will not have any long term effects on stature
o Growth hormone deficiency  this is an isolated defect or secondary to panhypopituitarism 
pituitary function may be abnormal in congenital mid-facial defects or as a result of
Craniopharyngioma, a hypothalamic tumour or trauma (head injury/meningitis)  in GH deficiency
the bone age is markedly delayed
o Cushing syndrome  usually iatrogenic, but this effect is reduced by alternative day therapy  non-
iatrogenic Cushing syndrome is very rare in children and may be caused by pituitary or adrenal
pathology  growth failure can be severe with excess weight gain although these can resolve with
withdrawal of treatment  if during puberty then the effects can be permanent
• Nutrition or chronic illness  a relatively common cause of abnormal growth  these children are usually
short and underweight  inadequate nutrition includes insufficient food, poor appetite or restricted diet  it
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can also be due to an increased nutritional need due to disease  chronic illnesses, which may present with
short stature include coeliac disease, Crohn disease and chronic renal failure
• Psychosocial deprivation  physical and emotional deprivation can cause shortness, delayed puberty and a
child to be underweight  children can show catch up growth if placed in a nurturing environment
• Chromosomal disorder/syndrome  Down syndrome, Turner syndrome and Russell-Silver syndrome may
present with short stature
• Extreme short stature  there are a few rare conditional that cause extreme short stature in children 
these include absolute resistance to GH and primordial dwarfism
• Disproportionate short stature  confirmed by measuring sitting height, sub-ischial leg length (sitting height
– standing height) and limited radiographic skeletal survey  conditions with abnormal body proportions are
rare and may be caused by disorders of the formation of bone (eg. skeletal dysplasia)  including
Achondroplasia and other short-limbed dysplasia
Recognise the important features of other conditions presenting with short stature e.g. Russel-Silver syndrome
• Russell-Silver syndrome  a disorder present from birth that involves poor growth, low birth weight, short
height and differenes in the size of the two sides of the body
• Symptoms
o Arm & leg lengths differ o Short height
o Café-au-lait spots o Swelling of the fingers/toes
o Failure to thrive o GI reflux
o Delayed bone age o Kidney problems
Be able to plot a growth chart and compare measures of height with predicted height based on parental measures.
• This is calculated as the mean of the father’s and mother’s height with 7cm added for the mid-parental target
height for a boy and 7cm subtracted for a girl
• The 9th-91st centile range of this estimate is given by ±10cm in a boy & ±8.5cm in a girl
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PUBERTY
Define abnormalities with pubertal development
FEMALES
• Breast development  first signs at 8½-12½yrs
• Pubic hair growth and rapid height spurt  almost immediately after breast development
• Menarche  occurs on average 2½yrs after the start of puberty and signs that growth is coming to an end,
with only 5cm of height gain remaining
• In both genders  there is acne development, axillary hair, body odour and mood changes
MALES
• Testicular enlargement  occurs to >4ml volume and is the 1st sign of puberty
• Pubic hair growth  follows testicular enlargement, usually between 10-14yrs
• A height spurt occurs when the testicular volume is 12-15ml  after a delay of around 18months
• In both genders  there is acne development, axillary hair, body odour and mood changes
DELAYED PUBERTY
• Delayed puberty is often definied as the absence of pubertal development by 14y/o in females and 15y/o in
males
• In contrast to precocious puberty  the problem is more common in males, in whom it is mostly due to
constitutional delay of growth & puberty
• This often familial, usually having occurred in the parent of the same sex  it may also be induced by dieting
or excessive exercise
• These children have a delay in puberty, height and bone maturation  eventually the target height will be
reached as growth will continue for longer than their peers
• Causes of delayed puberty include
o Constitutional delay of growth & puberty
o Low gonadotrophin secretion  systemic disease (eg. CF, asthma, Crohns, anorexia), acquired
hypothyroidism or hypothalamo-pituitary disroders (eg. intracranial tumours or GH insufficiency)
o High gonadotrophin secretion  chromosomal abnormalities, steroid hormone enzyme deficiencies
and acquired gonadal damage
Outline basic investigations for delayed puberty

• In boys an assessment should include
o Pubertal staging  especially testicular volume
o Identification of chronic systemic disorders
• In girls, karyotype should be performed to identify Turner syndrome  thyroid or sex steroid levels should
also be measured
• The aims of management
o Identify and treat underlying pathology
o Ensure normal psychological adaptation to puberty & adulthood
o To accelerate growth if necessary
• If puberty is abnormally late or early  then bone age measurement can be taken by obtaining an x-ray of the
hand and wrist
• Pelvic US may be used in females to assess uterine size and endometrial thickness
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Define normal pubertal development and precocious puberty
• The development of secondary sexual characteristics before 8y/o in females and 9y/o in males is defined as
outside the normal range in the UK
• It may be due to
o Precocious puberty when it is accompanies by a growth spurt
o Premature breast development  thelarche
o Premature pubic hair development  (pubarche)
• Precocious puberty may be categorised according to the levels of the pituitary-derived gonadotrophins, FSH &
LH, as
o Gonadotrophin-dependent from premature activation of the HPG axis
o Gonadotrophin-independent from excess sex steroids
FEMALES
• In females, this is usually idiopathic or familial and follows the normal sequence of puberty
• Organic causes are rare and are associated with
o Dissonance  when the sequence of pubertal changes is abnormal  eg. isolated pubic hair with
virilisation of the genitalia – suggesting excess androgen from congenital adrenal hyperplasia or an
androgen-secreting tumour
o Rapid onset
o Neurological symptoms
• Precocious puberty in females is commonly due to the premature onset of normal puberty
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MALES
• This is uncommon and usually has an organic cause, particularly intracranial tumours
• Central precocious puberty in males more often has an organic cause
Outline initial investigations

FEMALES
• Ultrasound examination of the ovaries and uterus is helpful in establishing the cause of precocious puberty
• In the premature onset of normal puberty  multicystic ovaries and an enlarging uterus will be identified
MALES
• Examination of the testes may be helpful
o Bilateral enlargement  suggests gonadotrophin release, usually from an intracranial lesion
o Small testes  suggest an adrenal cause  eg. a tumour or adrenal hyperplasia
o A unilateral enlarged testes  suggests a gonadal tumour
• Tumours in the hypothalamic region are best investigated by cranial MRI scan
Define premature thelarche/pubarche and initial investigations

• Thelarche  usually affects females between 6 months and 2 years of age  breast enlargement may be
asymmetrical and rarely progresses beyond stage 3  it is differentiated from precocious puberty by the
absence of axillary/pubic hair and of a growth spurt
It is non-progressive and self-limiting  investigations are not usually required
• Pubarche  occurs when pubic hair develops before 8y/o in females and 9y/o in males, but with no other
signs of sexual development  it is most commonly caused by an accentuation of the normal maturation of
androgen production by the adrenal gland (adrenarche)  it is more common in Asian & Afro-Caribbean
children  there may be a slight increase in growth rate, but it is usually self-limiting
An US of the ovaries/uterus and bone age should be obtained to exclude central precocious puberty  a
more aggressive course of virilisation would suggest late-onset non-slat-losing congenital adrenal hyperplasia
(CAH) or an adrenal tumour  obtaining a urinary steroid profile helps differentiate premature pubarche
from late onset CAH or an adrenal tumour  at a higher risk of developing PCOS later in life
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OBESITY
Define obesity and be aware of the risk factors for it in children
• Obesity is the most common nutritional disorder affecting children & adolescents in the developed world 
its importance is in its short and long term complications and that obese children tend to become obese
adults
• In children, the BMI is expressed as a BMI centile in relation to age and sex-matched population  by
convention in the UK, the 1990 chart is used
• For clinical use, overweight is a BMI >91st centile and obese is a BMI >98th centile  very severe obesity is
>3.5 SD above the mean  extreme obesity >4 SD
• For children over 12 yrs  overweight is BMI >25, obese >30, very severe obesity >35 and extreme obesity Is
>40kg/m2
• In 2006, 17.5% of males and 14.5% of females are thought to be obese
Outline the management steps for obese children

• Most obese children are managed in primary care  specialist paediatric assessment is indicated in any child
with complications or if an endogenous cause is suspected
• Treatment should be considered where the child is above the 98th centile for BMI and the family are willing to
make the necessary difficult lifestyle changes
• Weight maintenance is more realistic than weight reduction  will result in demonstrable fall in BMI on
centile chart as height increases  it can only be achieved by sustained changes in lifestyle
o Healthier food & decreased portion size by 10-20%
o An increase in habitual physical activity to 60mins of moderate to vigorous daily physical activity
o Reduce physical inactivity
• Drug treatment can be used in children >12yrs who have extreme obesity (>40kg/m2) or have a BMI >35kg/m2
and complications of obesity  recommended to be used only after dietary, exercise and behavioural
approaches have been started
o Orlistat  is a lipase inhibitors, which reduces the absorption of dietary fat and thus produces
steatorrhoea  fat intake should be reduced to avoid the unpleasant GI side effects
o Metformin  is a biguanide that increases insulin sensitivity, decreases gluconeogenesis and
decrease GI glucose absorption
• Bariatric surgery is generally not considered appropriate in children or young people unless they have almost
achieved maturity, have very severe or extreme obesity with complication and all other interventions have
failed or to maintain weight loss
List some common syndromes associated with obesity

• Orthopaedic  slipped upper femoral epiphysis, tibia vara (bow legs), abnormal foot structure and function
• Idiopathic intracranial hypertension  headaches, blurred optic disc margins
• Hypoventilation syndrome  daytime somnolence, sleep apnoea, snoring, hypercapnia, heart failure
• Gallbladder disease
• Polycystic ovarian syndrome
• Type 2 DM
• Hypertension
• Abnormal blood lipids
• Other medical sequelae  eg. asthma, changes in left ventricular mass, increased risk of certain malignancies
(endometrial, breast & colonic)
• Psychological sequelae  low self-esteem, teasing, depression
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Be aware of the epidemiology, presenting features and early treatment in children with type 2 diabetes
• Type 2 diabetes is relatively rare in children, but is becoming much more common  most paediatric cases
currently belong to the minority communities
• It tends to be commoner in girls  the range of onset is generally 12-16yrs
• Presenting features may include acanthosis nigricans, obesity and hypertension  there may be a strong
family history and no history of excess thirst or increased urination
• Treatment should include activity, diet, metformin and potential insulin therapy where required
List the features of Prader-Willi syndrome and outline the genetic basis
• Prader-Willi occurs when a child has 2 copies of chromosome 15q11-13 inheritred from the maternal side
• Angelman syndrome occurs when there are 2 copies of the same region inherited from the paternal side
• It currently affects 1 in 15,000-30,000 people, but appears to be more sporadic than familial
• Clinical features of Prader-Willi syndrome
o Characteristic facies  almond shaped eyes, narrowing of the forehead at the temple, narrow bridge
of nose, thin upper lip and upturned mouth  
o Hypotonia
o Neonatal feeding difficulties
o Failure to thrive in infancy
o Obesity in later childhood
o Hypogonadism
o Learning difficulties
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THYROID DISEASE
List the clinical features of hypo- and hyperthyroidism
HYPOTHYROIDISM HYPERTHYROIDISM
Congenital Acquired Systemic Eye signs (uncommon)
Usually asymptomatic Female > males Anxiety Exophthalmos
 screening Increased appetite Ophthalmoplegia
Failure to thrive Short stature/growth Sweating Lid retraction
failure Diarrhoea Lid lag
Feeding problems Cold intolerance Weight loss
Prolonged jaundice Dry skin Rapid growth in height
Constipation Cold peripheries Advanced bone maturity
Pale, cold, mottled dry Bradycardia Tremor
skin Tachycardia, wide PP
Coarse facies Thin, dry hair Warm peripheries
Large tongue Pale, puffy eyes with loss Goitre (bruit)
of eyebrows Learning
Hoarse cry Goitre difficulties/behavioural
Goitre Slow-relaxing reflexes Psychosis
Umbilical hernia Constipation
Delayed development Delayed puberty
Obesity
Slipped upper femoral
epiphysis
Deterioration in school
work
Learning difficulties
Outline the investigations and management of these conditions

HYPOTHYROIDISM
• There is only a small amount of thyroxine transfer from the mother to the foetus  although severe maternal
hypothyroidism can affect the developing brain  the foetal thyroid predominantly produces ‘reverse T3’,
which is a derivative of T3 and is largely inactive
• After birth  there is a surge in the level of TSH which is accompanied by a marked rise in T3 & T4 levels 
the TSH declines to the normal adult range within a week
• Preterm infants may have very low levels of T4 for the 1st few weeks of life  while the TSH is within the
normal range  under these circumstances, additional thyroxine is not required
• Congenital hypothyroidism causes
o Maldescent of the thyroid & athyrosis
o Dyshormonogenesis
o Iodine deficiency
o TSH deficiency
• Juvenile hypothyroidism is usually caused by autoimmune thyroiditis  there is an increased risk in Down or
Turner children  treatment is also with thyroxine
• Most infants with congenital hypothyroidism are detected on routine neonatal biochemical screening
(Guthrie test)  performed on all newborn infants, by identifying a raised TSH in the blood  however,
thyroid dysfunction secondary to pituitary abnormalities may not be picked up at neonatal screening as they
will have a low TSH
• Treatment with thyroxine is started at 2-3 weeks of age  it is life long with oral replacement of thyroxine,
titrating the dose to maintain normal growth, TSH and T4 levels
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HYPERTHYROIDISM
• Hyperthyroidism  usually results from Graves disease (autoimmune thyroiditis), secondary to the
production of thyroid-stimulating immunoglobulin (TSIs)
• The clinical features are similar to those in adults, although eye signs are less common  it is most often seen
in teenage girls
• The levels of thyroxine (T4) and/or tri-iodothyronine (T3) are elevated and TSH levels are suppressed  anti-
thyroid peroxisomal antibodies may also be present, which may eventually result in spontaneous resoltuon of
the thyrotoxicosis, but subsequently cause hypothyroidism
• The 1st line treatment is with Carbimazole or Propylthiouracil that interfere with thyroid hormone synthesis 
initially beta-blockers can be added for symptomatic relief of anxiety, tremor and tachycardia
• There is a risk of neutropenia from anti-thyroid medication  all families should be warned to seek urgent
help and a blood count if sore throat and high fever occur on starting treatment
• Medical treatment is given for about 2yrs, which should control thyrotoxicosis, but the eye signs may not
resolve  when medical treatment is stopped, 40-75% will relapse and a 2nd course of drugs may be given or
a subtotal thyroidectomy will usually resilt in permanent remission
• Radioiodine treatment is simple and is no longer considered to result in later neoplasia
• Follow-up is always required as thyroxine replacement is often needed for subsequent hypothyroidism
• Neonatal hyperthyroidism  may occur in infants of mothers with Graves disease from the transplacental
transfer of TSIs  treatment is required as it is potentially fatal, but it resolves spontaneously with time
Understand the importance of early diagnosis of hypothyroidism in children

• Detection of congenital hypothyroidism is important as it is
o Relatively common  1 in 4000 births
o One of the few preventable causes of severe learning difficulties
• Early treatment of congenital hypothyroidism is essential to prevent learning difficulties  with neonatal
screening, the results of long-term intellectual development have been satisfactory and intelligence should be
in the noram range for the majority of children
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CUSHING’S SYNDROME
Appreciate this is rare in children and know the causes
• Glucocorticoid excess in children is usually a side effect of long-term glucocorticoid treatment (IV, oral or
more rarely inhaled, nasal or topical) for treatment of conditions  such as nephrotic syndrome, asthma or
severe bronchopulmonary dysplasia
• Corticosteroids are potent growth suppressors and prolonged use in high dosage will lead to reduced adult
height and osteopenia  this unwanted side effect of systemic corticosteroids is markedly reduced by taken
corticosteroid medication in the morning on alternate days
• Other causes of glucocorticoid excess are rare  it may ACTH driven from a pituitary adenoma, usually in
older children  or from ectopic ACTH producing tumours, but these almost never occur in children
• ACTH-independent disease is usually from corticosteroids therapy  but maybe be from adrenocortical
tumours (benign or malignant), when there may also be cirilisation  these usually occur in young children
• A diagnosis of Cushing syndrome is often questioned in obese children  most obese children from dietary
excess are of above-average height, in contrast to children with Cushing’s syndrome, who are short and have
growth failure
• If Cushing syndrome is a possibility  then the normal diurnal variation of cortisol (high in morning, low at
midnight) may be shown to be lost  eg. still high at midnight  24hr urine free cortisol is also high
• After the administration of dexamethasone  there is failure to suppress the plasma 9am cortisol levels
• Adrenal tumours are identified on CT or MRI scan of the abdomen – adrenal tumours are usualy unilateral and
are treated by adrenalectomy and radiotherapy  a pituitary adenoma is located on MRI brain scan – best
treated by trans-sphenoidal resection, but radiotherapy can be used
• Clinical features of Cushing syndrome
o Growth failure/short stature
o Face & trunk obesity
o Red cheeks
o Hirsutism
o Striae
o Hypertension
o Bruising
o Carbohydrate intolerance
o Muscle wasting and weakness
o Osteopenia
o Psychological problems
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DIABETES INSIPIDUS
Be aware of the clinical features and at risk children
• Diabetes insipidus  the failure to produce ADH resulting in polyuria and polydipsia, as the urine cannot be
concentrated  the patient may become extremely dehydrated or may present with nocturnal enuresis
• This is a genetic condition  so the children most at risk are those whose parents or family suffer from the
same condition
• Clinical features can be difficult in young children and are generally none specific  such as failure to thrive,
poor feeding and irritability  the earliest signs include vigorous suck with vomiting, fever without apparent
cause, constipation and excessively wet nappies
DIAGNOSIS
• 24hr assessment of urinary volume and osmolality under coniditons of ad libitum fluid intake should be
undertaken  serum osmolality, U&Es and blood glucose should also be measured
• Blood hypertonicity (serum osmolality >300mOsm) with inappropriate urine hypotonicity (serum osmolality
<300mOsm) should be demonstrated  DM and renal failure should be excluded
• A water deprivation test and assessment of responses to exogenously administered ADH is required to
diagnose the type of DI  other tests to determine the underlying cause of DI will also be needed
TREATMENT
• Cranial DI  synthetic analogue of ADH (Desmopressin) , which has a longer duration of action, can be given
intranasal or oral  dose required varies considerably and must be titrated for each patient  the dose and
frequency is adjusted to maintain 24hr urine output volume within the normal range
• Nephrogenic DI  correction of underlying metabolic or iatrogenic causes  maintenance of an adequate
fluid input is essential  thiazides, amiloride and PG synthase inhibitors can be effective
• Primary polydipsia  treatment is often difficult  behaviour modification strategies are usually required
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GROWTH HORMONE DEFICIENCY

Understand this is a rare condition, but can be investigated and treated
• Growth hormone deficiency may be an isolated defect or secondary to panhypopituitarism
• Pituitary function may be abnormal or congenital mid-facial defects or as a result of a craniopharyngioma (a
tumour affecting the pituitary region), a hypothalamic tumour or trauma – such as head injury, meningitis and
cranial irradiation
• Craniopharyngioma  usually presents in late childhood and may result in abnormal visual fields, optic
atrophy or papiloedema on fundoscopy  visual field defects include bitemporal hemianopia as it impinges
on the optic chiasm
• In growth hormone deficiency, the bone age is markedly delayed
• Laron syndrome is a condition due to defection growth hormone receptors resulting in growth hormone
insensitivity  patients with this coniditon have high growth hormone levels, but low levels of the
downstream active product of growth hormone (IGF-1) produced at the growth plate and in the liver
• Rare abnormalities in the gene producing IGF-1 have also recently been discovered in children
• The primary investigation would be a GH provocation test using insulin, glucagon, clonidine or arginine
• Growth hormone deficiency is treated with biosynthetic GF, which is given by subcutaneous injection, usually
daily  it is expensive and the management of this deficiency is undertaken at specialist centres  the best
response is seen in children with the most severe deficiencies
• Other indications include Turner syndrome, Prader-Willi syndrome, chronic renal failure and IUGR
• Recently recombinant IGF-1 has been used to treat children with growth hormone resistance (Laron
syndrome) and IGF-1 deficiency who would have previously not responded to GH treatment
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GYNAECOMASTIA
Identify the clinical features, causes and investigations
• Gynaecomastia is a condition affecting boys in which there is hyperplasia of the glandular tissue of the breast
 resulting in enlargement of one or both breasts
• Boys may notice a small, firm, tender mass under on or both nipples which eventually flatten out  the
tenderness is only temporary and will go with time
• It is a common condition with 3 well-defined time periods of occurrence
o Neonatal
o Puberty
o During older adult life
• It is either due to an imbalance in the normal systemic or local oestrogen/androgen ratio
• Gynaecomastia may be induced by
o An absolute or relative increase in oestrogen level
o Local breast tissue hypersensitivity to oestrogens
o Decrease in the production or action of free androgen levels
• Classification and causes of gynaecomastia
o Pubertal gynaecomastia
o Neonatal gynaecomastia
o Impaired gonadal function  hypo/hypergonadotrophic hypogonadism
o Androgen insensitivity syndrome
o Adrenal tumours
o Testicular tumours
▪ Leydig cell tumour
▪ Sertoli cell tumour
▪ Germ cell tumour
o Iatrogenic
▪ Exogenous hormones  oestrogens or anabolic steroids
▪ Ketoconazole
▪ Psychoactive drugs  diazepam, phenothiazines
o Alcohol excess
o Cannabis
• Diagnosis is usually based on clinical examination and the knowledge that the child is in puberty  a review of
medication may be necessary and tests can also be done although are rarely necessary  these might include
LFTs, plasma oestradiol, plasma LH & plasma testosterone
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Emergency CP2 Learning Objectives Child Health
EMERGENCY
ACUTE LIFE THREATENING EVENT (ALTE)
Define the common causes of ALTEs
• ALTE is a sudden event, often characterized by apnoea or other abrupt changes in the child’s behaviour
• ALTE occurs in infants and are a combination of
o Apnoea
o Colour change
o Alteration in muscle tone
o Choking
o Gagging
• Most commonly occur in infants less than 10 weeks old  may occur on multiple occasions
• They may be a presentation of a potentially serious disorder  although often no cause is identified
• In most cases, the episode is brief with a rapid recovery and the baby is clinically well  baseline
investigations and overnight monitoring of oxygen saturation, respiration and ECG are found to be normal
• Common causes
o Infections  RSV or pertussis
o Seizures
o Gastro-oesophageal reflux  present in 1/3 of normal infants
o Upper airway obstruction  natural or imposed
• Uncommon causes
o Cardiac arrhythmia
o Breath-holding
o Anaemia
o Heavy wrapping/heat stress
o Central hypoventilation syndrome
o Cyanotic spells from intrapulmonary shunting
Recognise and understand the immediate management of any acute illness in a child
• These episodes may necessitate stimulation or resuscitation to arouse the child and reinitiate regular
breathing
• Management requires a detailed history and thorough examination to identify problems with the baby or
caregiver
• The infant should be admitted to hospital  multi-channel overnight monitoring is usually indicated
• The parents should be taught resuscitation  will find it helpful to receive follow-up from a specialist
paediatric nurse or paediatrician
Have an understanding of the common investigations for ALTE to establish a diagnosis

• Blood glucose • Urea & electrolytes and LFTs
• Blood gas & lactate • Urine  collect & freeze 1st sample
• Oxygen saturation monitoring o Metabolic studies
• Cardiorespiratory monitoring o MC&S
• EEG o Toxicology
• Oesophageal pH monitoring • ECG  QTc conduction pathway abnormality
• Barium swallow • Chest X-ray
• Full blood count • Lumbar puncture
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ANAPHYLAXIS
Understand the pathophysiology of anaphylaxis in respect of the developing immune system
• Both IgE and non-IgE mediation involves activation of mast cells and basophils igniting a cascade that results
in the release and production of severe inflammatory and vasoactive substances  these include histamine,
tryptase, heparin, prostaglandins, leukotrienes and cytokines
• In anaphylaxis  these substance most commonly involve skin, respiratory, cardiovascular and GI systems 
this results in
o Angioedema
o Bronchospasm
o Bronchorrhea
o Laryngospasm
o Increased vascular permeability
o Decreased vascular tone
o Bloody diarrhea
• The most common cause of these mediators being released is an IgE mediated reaction  a previously
sensitized B lymphocyte produces IgE against a specific antigen  the IgE resides on the mass cells and
basophils  when the specific antigen, or one similar to it, binds to the high affinity receptor then
degranulation occurs
List the common agents that cause anaphylaxis in children and the risk factors children may have
• 85% of anaphylaxis is caused by food allergy  most are IgE-mediated reactions with significant respiratory or
cardiovascular compromise
• Common foods
o Milk
o Eggs
o Wheat
o Soy
o Fisher
o Shellfish
o Tree nuts
o Legumes
• Other causes include
o Biologics  venoms & vaccines
o Drugs  antibiotics (penicillin, cephalosporins), local anaesthetic, analgesics (aspirin & NSAIDs),
opiates (codeine & morphine) and radiocontrast media
o Latex
o Preservatives & additives  MSG
o Exercise
o Inhalant allergens
o Idiopathic
• While most paediatric anaphylaxis occurs in children <5yrs, when food allergy is most prevalent  the
majority of fatal paediatric anaphylaxis occurs in adolescents with allergy to nuts
• Risk factors
o Younger  smaller airway
o Asthma
o Chronic GI symptoms  increases risk of vomiting
o Hypotension
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o Bradycardia
o FHx 
Describe the common presenting features of anaphylaxis

• Anaphylaxis involves a range of signs and symptoms from hives with wheezing to cardiovascular collapse and
death  more than 80% of patients will present with cutaneous symptoms
• Generally at least 2 organ systems are involved  however, anaphylaxis can simply present with low SBP for
age or a decrease of 30% in SBP after known allergen exposure
• The primary clinical diagnostic criteria include
‘The acute onset of skin and/or mucosal symptoms along with either respiratory compromise and/or
reduced blood pressure or associated symptoms of end-organ dysfunction eg. hypotonia, syncope
and incontinence’
• The reaction includes involvement of
o Skin  urticarial and angioedema
o Respiratory  acute airway obstruction with laryngeal oedema and bronchospasm
o Gastrointestinal  severe abdominal cramping and diarrhea
o Systemic  hypotension and shock
• Usually cutaneous symptoms present first and a history of exposure to a known trigger is given  symptoms
may develop slowly and insidiously over several hours or may rapidly progress over several minutes 
parenteral agents generally have a faster onset of symptoms than ingested ones
Detail the immediate management of anaphylaxis including ABC and medium term treatment
• Standard protocol
o Adrenaline  SC 0.01ml/kg repeated every 15mins if required
o Hypotension  put the patient head down at 30o and give IV normal saline
o Salbutamol  give nebulized salbutamol 0.05-0.15mg/kg in 3ml normal saline  approx. 2.5mg for
child <30kg and 5mg for child >30kg every 15mins if required
o Anti-histamine
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o Steroid  give IV bolus methylprednisolone (2mg/kg)  this dose should be followed by IV
methylprednisolone 2mg/kg/day or oral prednisolone 2mg/kg/day
List some common investigations for anaphylaxis

• Serum histamine levels  rise quickly with the onset of symptoms, but do not remain elevated after 30-
60mins
• Serum tryptase levels  peak at 60-90 minutes after the onset of symptoms and remain raised for up to 5hrs
 b-tryptase is released with degranulation of mast cells whereas a-tryptase is secreted constitutively by the
mast cell  the ratio of total tryptase to b-tryptase can help distinguish systemic mastocytosis from
anaphylaxis
• Other useful tests includem
o C1 inhibitor functional assay (C1INH)
o Urine vanillymandelic acid (VMA)
o Serum serotonin levels
• Radioallergosorbent test or cutaneous antigen testing can be used after recovery to try to identify the inciting
antigen
Understand the role of patient held medication for immediate out of hospital treatment for anaphylactic reactions
• An Epipen is an epinephrine auto-injector  one should be provided to all people who suffer from
anaphylaxis
• This can be administered IM when the signs and symptoms begin to manifest  it can be life saving while the
patient is transferred to hospital
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POISONING/INGESTION/OVERDOSE
Detail the epidemiology of accidental poisoning in children and identify those most at risk
• Although many thousands of young children are rushed to doctors’ surgeries or hospital for urgent medical
attention following accidental ingestion
• Most do not develop serious symptoms  as they ingest only a small quantity of poison or take relatively
non-toxic substances
• However, a small percentage of children become seriously ill and a very few children die from poisoning each
year
• Most accidental poisoning is in young children, with a peak age of 30 months  inquisitive toddlers are
unaware of the potential danger of taking medicines, household products and eating plants
• 90% of ingestions occur in the child’s home, when supervision is inadequate  supervision of toddlers entails
not only reacting to a dangerous situation, but also prevention through anticipation
• There are around 32,000 telephone inquires about accidental poisoning in the UK each year, but fortunately
there are few deaths
Detail the epidemiology of deliberate harm through overdose or self injury

• Older children are more likely to take significant amounts of poison than younger children
• Substances that can regarded as having immediate toxicity when taken accidentally should be regarded as
potentially toxic when taken deliberately
• Poisoning in older children should be recognised as a serious symptom and indication of child and family
disturbance  so all children who take poisons deliberately should ideally be assessed by a child and
adolescent psychiatry and a social worker
• These figures are hard to find as many children never present to services  it is though that up to 7% of
adolescents have engaged in self-harming activity with the incidence being higher in teenage girls
• For most people, it will resolve before adulthood, but it can persist in up to 10%  anxiety, depression, heavy
alcohol use, smoking and cannabis use have all been associated with self-harm
• NB – self-cutting and burning are the commonest forms
List the common presenting features of the main ingestion/overdose cases including paracetamol, NSAIDS, Iron,
methadone, alcohol, detergents
CLINICAL FEATURES OF POISONS
• Tachypnoea  Aspirin, Carbon Monoxide
• Slow respiratory rate  Opiates, Alcohol
• Hypertension  Amphetamines, Cocaine
• Hypotension  Tricyclics, Opiates, B-blockers, Iron
• Convulsions  Tricyclics, Organophosphates
• Tachycardia  Cocaine, Anti-depressants, Amphetamines
• Bradycardia  B-blockers
• Large pupils  Tricyclics, Cocaine, Cannabis, Amphetamines
• Small pupils  Opiates, Organophosphates
DRUGS
• Paracetamol  large ingestion is uncommon in young children as tablets are difficult to swallow and elixir is
too sweet  adverse effects include GI irritation & liver failure after 3-5 days  management is to check the
plasma concentration after 4hrs ingestion  if >150mg/kg has been taken, or if plasma conc is high, then
start IV acetylcysteine  monitor PTT, LFT & plasma Cr
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• NSAIDs  depends of the amount ingested  symptoms include mild nausea, vomiting & electrolyte
abnormalities  large ingestion can lead to an altered level on consciousness, tachypnea and even coma 
there may be multiple organ failure and seizures  tinnitus & nystagmus occur along with abdominal pain 
initially assess ABC and stabilize patient – next GI decontamination should begin with activated charcoal 
orogastric lavage may also be needed
• Iron  initially there is vomiting, diarrhea, haematemesis, melaena & acute GI ulceration  there is then a
latent period of improvement  hours later, there is drowsiness, coma, shock, liver failure, hypoglycaemia
and convulsions  long term this can lead to gastric strictures  if serious toxicity (>60mg/kg elemental Fe),
then perform AXR to count the number of tablets  perform serum iron levels and consider gastric lavage,
especially if severe and <1hr ingestion time  IV desferrioxamine for chelation may be used
• Methadone  symptoms include pinpoint pupils, constipation, nausea, vomiting and spasms  there will be
a low BP, weak pulse and shallow slow breathing  eventually will lead to coma, drowsiness and peripheral
shut down  if the patient lacks spontaneous respiration, then intubate and give IV naloxone to relieve some
respiratory depression
• Alcohol  causes hypoglycaemia, coma and respiratory failure  management is to monitor blood glucose,
check blood alcohol levels for severity and give IV dextrose if needed
• Detergents  these agents are generally very caustic and present with dyspnea, dysphagia, oral pain, cheek
pain, abdo pain, N&V  do not induce emesis or try to neutralize the agent  dilutant may be used in some
cases  the main treatment should be airway support, gastric emptying and decontamination (via NG tube)
Outline the immediate management of the common poisoning agents
278
Be aware of the resources available when dealing with children who have ingested/overdosed on a substance
• The aim of management of poisoning should be to prevent unnecessary admissions to hospital, while
maintaining safety  there has been a marked reduction in the hospital admission rate for poisoning 
reasons for this include
o The introduction of child-resistant containers  in the UK they must be used for paracetamol and
salicylate preparations and certain household products (eg. white spirit)  an alternative container
for tablets is opaque blister packs
o The reduction in the number of tablets per pack
o A reduction in prescriptions of potentially harmful medicines  eg. aspirin & iron
Recognise the importance of the social family factors in these children

• A lot of overdoses at home occur due to poor supervision, which increases the risk of these incidences
• There should also be consideration of abuse and even the purposeful administration of these poisons
• With purposeful overdoses, there may be a poorly cohesive family unit at home with little parental support 
these factors are vital to protect against further incidents and need consideration
Outline the associated risk factors for adolescents who overdose or self-harm
EPIDEMIOLOGICAL RISK FACTORS
• Men are more likely to complete suicide, but women engage in more parasuicidal activity
• Rates highest in men 19-34 years old
• Divorced > widowed > single
• Social class V
• Living alone
CLINICAL RISK FACTORS

• Psychiatric illness
• Previous deliberate self-harm
• Alcohol dependence
• Physical illness  especially terminal illness and debilitating or chronically painful conditions
• Family history of depression, alcohol dependence or suicide
• Recent adverse life events  especially bereavement
Be aware of the safeguarding issues in these children

• As mentioned above, this event may have been due to neglect or may have been purposeful
• These children need reviewing and potential safeguarding put in place
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SUDDEN INFANT DEATH SYNDROME (SIDS)

Describe the epidemiology of SIDS including risk factors
• SIDS  the sudden and unexpected death of an infant or young child for which no adequate cause is found
after a thorough postmortem examination
• SIDS is the commonest cause of death in children aged 1 month to 1 year  it occurs most commonly at 2-4
months of age  the risk for subsequent children is slightly increased
• There is a marked variation in the incidence of SIDS in different countries  suggesting that environmental
factors are important
• Factors associated with SIDS
o The Infant
▪ Age 1-6 months, peak at 12 weeks
▪ Low birthweight and preterm  but 60% are normal birthweight term infants
▪ Sex  boys 60%
▪ Multiple births
o The Parents
▪ Low income
▪ Poor or overcrowded housing
▪ Maternal age (<20y/o has x3 risk of a mother age 25-29, but 80% of affected mothers are
>20years old
▪ Single unsupported mother  x2 the rate of supported mothers
▪ High maternal parity
▪ Maternal smoking during pregnancy
▪ Parental smoking after baby’s birth
o The Environment
▪ The infant sleeps lying prone
▪ The infant is overheated from high room temperature and too many clothes and covers,
particularly when ill
Give advice to parents about avoidance of SIDS and some of the evidence behind this
• In the UK, the incidence of SIDS has fallen dramatically during
the last 20 years  coinciding with a national ‘Back to Sleep’
campaign  this advocates that
o Infants should be put to sleep on their back  not
their front or side
o Overheating by heavy wrapping and high room
temperature should be avoided
o Infants should be place in the ‘feet to foot’ position
o Parents should not smoke near their infant
o Parents should seek medical advice promptly if their
infant becomes unwell
o Parents should have the baby in their bedroom for
the first 6 months of life
o Parents should avoid bringing the baby into their bed
when they are tired or have taken alcohol, sedative
medicines or drugs
o Parents should avoid sleeping with their infant on a
sofa, sette or armchair
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Outline the common investigations and procedures that occur following the unexplained death of a child
• Following an unexpected death

o The parents should be offered the opportunity to see and hold their child
o The coroner must be informed and a postmortem performed
o The parents should be informed about the postmortem, that investigations will be performed and
that the police will be involved and they should be reassured that this is standard practice
o Follow-up and bereavement counselling should be offered
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BURNS/SCALDS
Describe the epidemiology, risk factors and presenting features of burns/scalds
• Burns and scalds are a significant accidental (and non-accidental) cause of death  although most of the
deaths occurring in house fires are caused by gas and smoke inhalation rather than thermal injury
• It is estimated that half a million children are admitted to hospital with burns each year across the world 
the majority of these occur in low to middle income countries
• Worldwide, the under 5’s account for half of all burns  the majority of which occur at home and are scolds
 scalds in toddlers are common  children are scalded at lower temperatures than adults, as their skin in
thinner
• The parents usually bring the child with a clear history of a burn or scold  in addition to the clear area of
damage there may be
o Blisters o Airway obstruction
o Pain o Wheezing
o Peeling skin o Swelling
o Shock
RISK FACTORS
• Low economic status and low education levels of the mother are the main demographic factors associated
with a high risk of burn injury
• Other associated factors are a high population density, household crowding and psychological stress in the
family
• Single parents and younger mothers are more at risk  especially if they are unemployed
Outline the first aid of burns/scalds out of hospital

• Cool the burn under cold running water for at least ten minutes.
• Cooling the burn will reduce pain, swelling and the risk of scarring. The faster and longer a burn is cooled, the
less the impact of the injury
• After the burn has been cooled, cover it with cling film or a clean plastic bag.
• This helps prevent infection by keeping the area clean. Cling film or plastic bags provide an ideal covering
because they don't stick to the burn and reduce pain by keeping air from the skin’s surface.
• Call 999 if necessary.
• The burn may need urgent medical treatment. Always seek medical advice for a baby or child that has been
burned.
Describe the immediate assessment and management of burns/scalds in the emergency department
• The severity of the injury is assessed
o Is the airway, breathing and circulation satisfactory?
o Was there any smoke inhalation?
If this has occurred, there is a danger of subsequent respiratory complications and CO poisoning  all
affected children should be observed and managed in hospital, with a low threshold to protect the
airway before secondary problems develop
o Depth of burn
In superficial burns  the skin will be epithelialised from surviving cells
In partial thickness burns  there is some damage to the dermis with blistering, and the skin is pink
or mottled
Regeneration for superficial and partial thickness burns is from the margins of the wound and from
the residual epithelial layer surrounding the hair follicles deep within the dermis
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In deep burns (full thickness)  the skin is destroyed down to and including the dermis and looks
white or charred, is painless and involves hair follicles  hence skin grating is often required  need
assessment and treatment in hospital
o Surface area of the burn
This should be calculated from a surface area chart  the palm and adducted fingers cover about 1%
of the body surface  burns covering more than 5% full thickness and 10% partial thickness need
assessment by burns specialist  involvement of more than 70% of body surface carries a poor
chance of survival
o Involvement of special sites
Burns to the face may be disfiguring  those to the mouth may compromise the airway with oedema
 those to the hands/joints may cause functional loss from scarring  burns to the perineum and
other special sites should all be referred to a burns unit
Be aware of the principles of burn/scald treatment

• Treatment should be directed at
o Relieving pain, assessed with a pain score  may require the use of strong analgesics, such as IV
morphine
o Treating shock with IV fluids, preferably plasma expanders and close monitoring of haematocrit and
urinary output  children with more than 10% burns will require IV fluids
o Providing wound care  burns should be covered with cling film, which reduces pain from contact
with cold air and reduces the risk of infection  blisters should be left alone  irrigation with cold
water should only be used briefly to superficial or partial thickness burns covering <10% of te body as
it may rapidly cause excessive cooling  tetanus immunization status must be ascertained and a
booster given if required  ongoing care involves removal of dead tissue and placement of sterile
dressings
• Severe burns or significant burns to special sites are best dealt with in specialist unity  plastic surgeons will
often need to embark on a programme of skin grafts and treatment of contractures
• The psychological sequelae of severe burns are often marked and long-lasting  appropriate psychological
support is required
Recognise the importance of safeguarding in this area

• Not all burns are an accident and many will need investigating, particular if severe or recurrent
• Burns may also occur as an accident, but in part due to neglect which is also a safeguarding issue
• The site, depth and type of burn are all indications of accidental or deliberate injury  eg. a cigarette burn
may be accidental if very shallow, but if deep then it implies a deliberate burn
Be aware of preventative measures to reduce the prevalence of these injuries in children

• Install smoke alarms in the house
• Teach a child about fire safety and the hazards of matches & fireworks
• Keep children from being able to climb near stoves or from reaching and pulling pans, irons and oven doors
• Turn pot handles towards the back of the stove
• Place fire extinguishers in key locations
• Remove electrical cords from the floor and keep them out of reach
• Use plug covers to prevent against electrical burns
Recognise the importance of airway compromise with facial burns or smoke inhalation
• An airway burn has a significant impact on the survival of the patient  it leads to
o Upper airway swelling
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o Acute respiratory failure
o Carbon monoxide intoxication
• Oedema typically occurs 12-24hrs after injury and hence early intubation is recommended rather than
observation
• Oxygen at a high flow should be given  if respiratory effort fails due to damage, then mechanical ventilation
should be started in the aim to blow off any excess CO
Appreciate the difference between electrical burns

• Like before, these primarily occur in the household and can vary from minor to multi-organ involvement
• Electrical injuries should be assessed according to the power source and type of current
• Most are low tension injuries (<110 volts) and occur on the hands or mouth
• Electrocution generates heat and follows the path of least resistance  this can cause characteristic burns in
children as well as muscle damage and cardiac anomalies
• Injuries also often result from being thrown from the electrical source if it is AC  there may be tetanic
contraction of muscles, which results in muscle damage or tearing
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TRAUMA/INJURY
Describe the epidemiology of trauma/injury in children
• Trauma & injury is a broad topic and can include many things  such as RTCs, head injuries, bike accidents
and internal injuries
• Injury is the leading cause of death in children older than 1 year and account for 65% of deaths  road
accidents make up the largest proportion of these, followed by homicide and drowning
• Male children who are in their adolescence are more at risk  blunt force is much more common than
penetrative injuries
• Children may suffer internal injuries associated with severe trauma
o Abdominal injuries  including ruptured spleen, ruptured liver, kidney and bowel
o Chest injuries  including pneumothorax and haemopericardium
• Abdominal injuries should be a high index of suspicion for these internal injuries if there has been abdominal
trauma or if the clinical setting suggests significant inflicted (abusive, injury)  the child need close
observation, an abdominal US (FAST scan) and x-rays, including CT scan  if there is any doubt, a
laparotomy/laparoscopy is undertaken
Recognise the sick child as a result of injury/trauma and the immediate first steps of treatment.
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NEAR DROWNING
Be aware of drowning as a cause of death/morbidity in children and the basic epidemiology
• Worldwide around 450,000 children drown each year and this is the leading cause of accidental death in
under 15 year olds  it is a significant cause of accidental death in children in the UK, with most victims being
young children
• Drowning is x3 more common in boys than girls  with warmer, affluent countries having a higher incidence
of drowning than the UK, particularly because of drowning in domestic swimming pools
• Babies may drown in the bath  toddlers may wander into domestic ponds or swimming pools  older
children may get into difficulty in swimming pools, rivers, canals, lakes and in the sea
• Up to 30% of fatalities can be prevented by skilled on-site resuscitation  even children who are unconscious
with fixed dilated pupils can survive near-drowning episodes  particularly if the water is cold, due to the
protective effect of hypothermia against hypoxic brain injury
• Children who are unconscious with fixed dilated pupils should therefore be fully resuscitated until their
temperature is nearly normal  with immediate management at the waterside is with mouth-to-mouth
resuscitation and chest compressions  heat loss should be prevented by covering and warming
• Children who may have inhaled water should be admitted to hospital to be observed for signs of respiratory
distress from pulmonary oedema after 1-72hrs from secondary surfactant  some aspirate water and
develop pneumonia with secondary infection
• It is now thought that there is no difference in outlook from fresh or salt water drowning
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ACUTE PAIN
Recognition and treatment of acute pain
• It is easy to ignore or underestimate pain in children  pain should ideally be anticipated and prevented
• Acute pain in children may be caused by
o Tissue damage  eg. burns or trauma
o Specific disease process  eg. sickle cell crisis
o Medical interventions  eg. investigations or procedures
o Surgery
• Approaches to pain management
• Explanation and information
o Psychological  by the parent, doctor, nurse or play specialist
o Behavioural
o Distraction
o Hypnosis
• Medical
o Local
▪ Anaesthetic cream
▪ Local anaesthetic infiltration
▪ Nerve block
▪ Warmth or cold
▪ Physiotherpay
▪ Transcutaneous electrical nerve stimulation (TENS)
o Analgesics
▪ Mild  paracetamol, NSAIDs
▪ Moderate  codeine, NSAIDs
▪ Strong  morphine
o Sedatives & anaethestic agents
▪ Intranasal midazolam
▪ Nitrous oxide
▪ General anaesthetic
o Anti-epileptic and anti-depressants for neuropathic pain
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Infection & Immunology CP2 Learning Objectives Child Health
INFECTION & IMMUNOLOGY

MENINGOCOCCAEMIA
Outline the incidence and demographics
• 2 out of 3 CNS infections are viral  mumps meningitis is now rare in the UK due to the MMR vaccine
• Over 80% of patients with bacterial meningitis in the UK are <16yrs  it remains a serious infection in
children, with 5-10% mortality  over 10% of survivors are left with long-term neurological impairment
• Only meningitis is present in 30-50% of cases of invasive meningococcal disease  whereas 7-10% of cases
only have features of septicaemia and 40% have both
• Bacterial meningitis more commonly occurs in black and Hispanic children  but may be due to
socioeconomic factors
• It occurs more commonly in males  peak incidence is 6-24 months, with most cases being under 4yrs 
children <6 months are generally protected by maternal antibodies
• The incidence of meningococcaemia is 0.7-1.4 per 100,000
• As many as 30% of teenagers and 10% of adults carry meningococci in their respiratory tract at any given time
• The clinical difference between septicaemia and meningitis is importance because patients who present with
shock are treated differently than patients who present primarily with increased ICP
Understand the pathophysiology of Neisseria meningitides and the serotypes that cause disease (reference to
immunisation schedule)
• Neisseria meningitides is the main causative organism for meningococcaemia  there are around 13
serotypes identified, but the most significant of these are A, B & C
• Serotype A & C predominate in Asia and Africa  serotypes B & C predominate in Europe, North America and
South America  in the UK, most deaths used to be due to type C
• Humans are the only known reservoir for N.meningitides  can transmit organisms by aerosol or
nasopharyngeal secretions  meningococcal infection is preceded by nasopharyngeal colonisation
• Meningococci then enter the blood stream and spread to specific sites  such as the meninges, joints or
disseminate throughout the body  5% of individuals become asymptomatic carriers
• Meningococci have 3 importance virulence factors, which are
o The polysaccharide capsule
o Lipo-oligosaccharide endotoxin  mediates invasion and is the protein that our body responds to
o Immunoglobulin A1 protease  which cleaves membranes and helps the organism survive
intracellularly
• Meningitis C vaccine is given at 3 months, 4 months and 1 year  Meningococcal group B vaccine is currently
being developed
• Much of the damaged caused by meningitis is as a result of the host response rather than the organism itself
 the release of inflammatory mediators and activated leucocytes together with endothelial damage, leads
to cerebral oedema, raised ICP and decreased cerebral blood flow
• Other causative organisms
o Neonates to 3 months ▪ Strep. Pneumoniae
▪ Group B strep ▪ H. influenza
▪ E.coli o >6 years
▪ Listeria ▪ N. meningitis
o 1 month to 6 yeares ▪ Strep. pneumoniae
▪ N. meningitis
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Know how this disease presents clinically including NICE guidance on febrile children (description of purpura and
relevant differential diagnoses)
• The younger the child, the less likely they are to exhibit the classic symptoms of fever, headache and
meningeal signs
• Meningitis in the neonatal period is associated with maternal infection or pyrexia on delivery  a child <3
months may have very non-specific symptoms including
o Hyperthermia or hypothermia o Vomiting
o Change in sleeping or eating habits o High pitched cry
o Irritability o Seizures
o Lethargy
• More specific signs include meningismus and bulging fontanel  a child who is quiet at rest, but cries when
moved or comforted may also have meningitis
• After 3 months, the child may display symptoms more often associated with bacterial meningitis with fever,
vomiting, irritability, lethargy or any change in behaviour  after 2-3 years, the child may complain of
headache, stiff neck and photophobia
• The clinical course may be brief and fulminant or gradual with several days of URTI followed by more severe
symptoms
• A petechial rash (N.meningitidis) is common and develops in 50-80% of patients  involves the axillae, flanks,
wrists and ankles  they are usually located in the centre of light coloured macules  these are non-
blanching and a sign of vasculitis
• Opisthotonus is arching of the back with increased ICP  there may also be positive Brudzinksi and Kernig
signs
o Brudzinski  flexion of the neck with the child supine causing flexion of the knees and hips
o Kernig  with the child lying supine and with the hips and knees flexed there is back pain on
extension of the knee
• Classical clinical presentation
o Headache o Neck stiffness
o Fever o Rash  >50%
o Vomiting o Seizures  20%
o Photophobia o Early non-specific symptoms 
o Lethargy mentioned earlier
• NICE defined purpura as >2mm in diameter  but does not give an exact definition
• Differential diagnosis
o Sepsis o HSP
o Febrile seizures o ITP
o Measles o Reye’s syndrome
o Mumps
SEPTICAEMIA
• This syndrome results from the activation and continued stimulation of the immune system by pro-
inflammatory cytokines  caused by endotoxin
• The clinical spectrum is produced by 4 elements:
o Capillary leak
o Coagulopathy
o Metabolic derangement
o Myocardial failure
• Capillary leak  from presentation until day 2-4 the vascular permeability massively increases causing protein
to enter the intravascular space and urine causing severe hypovolaemia  there is initial vasoconstriction to
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compensate but eventually there is decreased venous return and decreased cardiac output 
• Coagulopathy  there is a severe bleed tendency in meningococcaemia and presents with severe thrombosis
in the microvasculature of the skin  often in a glove and stocking distribution  sometimes requiring
amputation
• Metabolic derangement  profound acidosis occurs with severe metabolic abnormalities  including
hypokalaemia, hypocalcaemia, hypomagnesaemia and hypophosphataemia
• Myocardial failure  function remains impaired even after the circulating volume is restored and metabolic
abnormalities corrected  a gallop rhythm is often audible with elevated CVP and hepatomegaly  this is
thought to result from direct damage with proinflammatory mediators, acidosis and hypoxia
• Typical presentation includes:
o Fever o Myalgia
o Rash  may initially be erythematous o Abdominal pain
and may change to petechiae and o Tachycardia/tachypnoea
purpura o Hypotension
o Vomiting o Cool extremities
o Headache o Initially normal conscious level
Understand and outline the acute management of fulminant meningococcal sepsis and meningitis
• Investigations
o FBC & differential count
o Blood glucose & gas  for acidosis
o Coagulation screen & CRP
o U&E and LFTs
o Culture  blood, throat swab, urine, stool
o Rapid antigen test for meningitis organsism  blood, CSF or urine
o LP for CSF unless contraindicated
o Serum for comparison of convalescent titres
o PCR for possible organisms  blood & CSF
o Consider CT/MRI head and EEG
• There should be no delay in administration of antibiotics and supportive therapy in a child with meningitis 
the choice of antibiotics will depend on the likely pathogen  a 3rd generation cephalosporin (cefotaxime or
ceftriaxone) is the preferred choice to cover the most common bacterial causes
• Although, still rare in the UK, pneumococcal resistance to penicillin and cephalosporins is increasing rapidly in
certain parts of the world
• The length of the course of antibiotics given depends on the causative organism and clinical response
• Beyond the neonatal period  dexamethasone is administered with the antibiotics to reduce the risk of long-
term complications  eg. deafness
• With meningococcal septicaemia  the child needs rapid stabilisation and may require ICU  initially broad
spectrum antibiotics should be given
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• Significant hypovolaemia is often present owing to fluid maldistribution, which occurs due to the release of
vasoactive mediators by host inflammatory & endothelial cells  there is a loss of intravascular proteins &
fluids and circulating plasma volume is lost in the interstitial fluid  CVP & urinary catherisation should be
done to assess fluid balance
• Capillary leak into the lungs may cause pulmonary oedema  leading to respiratory failure and the need for
mechanical ventilation
• Myocardial dysfunction occurs due to inflammatory cytokines and circulating toxins depressing the
myocardial contractility  hence inotropic support may be needed
• DIC may occur due to widespread microvascular thrombosis and consumption of clotting factors  this needs
correcting with FFP & platelets
• Prophylaxis  treatment with rifampicin to eradicate nasopharyngeal carriage is recommended in all
household contacts  it is not required for the patient if they receive a third generation cephalosporin 
household contacts of patients with meningococcal meningitis type C should be immunised against group
Demonstrate awareness that this is a notifiable disease

• Meningitis is a notifiable disease  meaning that the local public health department must known about any
case within that area  patient’s cannot refuse this 
Understand that any acutely septic child with or without a purpuric rash may have meningococcaemia (a maculopapular
rash occurs early disease)
• Sepsis is most commonly caused by meningococcus in children  so should be suspected even in the absence
of the characteristic rash
Describe potential sequelae and the complications of meningococcaemia

• Despite early aggressive management  the complications remain significant
• In the neonatal period  the mortality is 15-25%, but drops to 5% after this age
• Focal neurological sequelae may occur in 10-15% of patients with meningitis
o Hearing loss  inflammatory damage to the cochlear hair cells may lead to deafness  all children
who have had meningitis should have an audiological assessment promptly, as children who become
deaf may benefit from hearing amplification or a cochlear implant
o Local vasculitis  this may lead to cranial nerve palsies or other focal lesions
o Local cerebral infarction  this may result in focal or multifocal seizures, which may subsequently
lead to epilepsy
o Subdural effusion  particularly associated with Haemophilus influenzae and
pneumococcal meningitis  this is confirmed by CT scan  most resolve spontaneously, but may
require prolonged antibiotic treatment
o Hydrocephalus  may result from impaired resorption of CSF (communicating hydrocephalus) or
blockage of the ventricular outlets by fibrin (non-communicating hydrocephalus)  a ventricular
shunt may be required
o Cerebral abscess  the child’s clinical condition deteriorates with the emergence of signs of a space-
occupying lesion  the temperature will continue to fluctuate  tt is confirmed on CT scan 
drainage of the abscess is required
• Sequelae and complications can be divided into nervous system (stated above) and others
o DIC o Pericarditis
o Thrombocytopenia o Bacterial endocarditis
o Septic arthritis o Gangrene
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Awareness of the rare underlying immunological deficits that may lead to recurrent meningococcaemia (complement
deficiency)
• The prevalence is thought to be relatively rare for complement deficiency, but up to 30% of people with
recurrent meningococcaemia have it
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SEPTICAEMIA
Be able to define ‘sepsis’
• Sepsis  a bacterial infection in the blood stream or body tissues  it is a very broad term covering the
presence of many types of microscopic disease causing organisms
• Septicaemia  when bacteria cause a focal infection or proliferate in the blood stream  the host response
includes the release of inflammatory cytokines and activation of endothelial cells, which may lead to septic
shock
List the relevant causative organisms at various ages eg, neonate, infant, toddler, pre-school/school child
• The commonest cause of septic shock in childhood is meningococcal infection, which may or may not be
accompanied by meningitis  fortunately, its incidence in the UK has fallen markedly since immunisation was
introduced against Meningococcal C, but other strains are still prevalent
• Pneumococcus is the commonest organism causing bacteraemia  but it is unusual for it to cause septic shoc
• Neonates  the commonest cause are group B streptococcus or Gram –ve organisms (E.coli, H.influenzae &
Listeria monocytogenes) acquired from the birth canal or ascended into amniotic fluid  late-onset sepsis the
source of infection is often the environment and is caused by S.epidermis, S.aureua, E.coli, Klebsiella,
Pseudomonas, Enterobacter, Serratia & Candida
• Infants  most common causes are H.influenzae type B, Strep. Pneumoniae, N.meningitides & Salmonella
• Children  the pathogens are similar to infancy, although the presence of encapsulated organisms generally
becomes less common
Outline the main causative organisms in ‘at-risk’ groups eg. Immunocompromised, Chronic respiratory illness
• Immunodeficiency  predisposes to SIRS from various usual and unusual pathogens but particularly
Pneumococcus
• Chronic respiratory illness  particularly at risk from Pseudomonas
Know how ‘Sepsis’ presents clinically in these age groups – reference to knowledge of target physiological parameters
for each age group (BP, Pulse, Respiratory rate); reference to NICE guidance on febrile child ‘traffic light assessment’ ie.
What are red-flag signs/symptoms?
RESPIRATORY RATE HEART RATE
Age Normal Tachypnoea Age Beats/min
Neonate 30-50 >60 <1 year 110-160
Infants 20-30 >50 2-5 years 95-140
Young Children 20-30 >40 5-12 years 80-120
Older Children 15-20 >30 >12 years 60-100
BLOOD PRESSURE
Age Upper limit of SBP
1-5 years 110mmHg
6-10 years 120mmHg
• Fever is the most common presenting symptoms of children with SIRS  a parental report can usually be
assumed to be reliable
• Signs that may be noticed initially include
o Minimal tachycardia ▪ Hypotension
o Widened pulse pressure ▪ Mental state changes
o Minimal tachypnoea ▪ Anuria
o Minimally delayed capillary refill ▪ Hypothermia
o Later there will be ▪ Cool extremities
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▪ Petechial or purpuric rash.
Understand pathophysiology of ‘shock’ and how to recognise clinically the degree of shock
• Shock  when the circulation is inadequate to meet the demands of the tissue leading to insufficient
perfusion  critically ill children are often in shock, usually because of hypovolaemia due to fluid loss or
maldistribution of fluid  occurs in sepsis or intestinal obstruction
• The clinical features of shock are manfestations of compensatory physiological mechansims to maintain the
circulation and the direct effects of poor perfusion of tissues and organs
• Early (compensated) clinical signs
o Tachypnoea
o Tachycardia
o Decreased skin turgor
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o Sunken eyes & fontanelle
o Delayed capillary refill (>2s)
o Mottled, pale, cold skin
o Core-peripheral temperature gap (>4oC)
o Decreased urinary output
• Late (decompensated) clinical signs
o Acidotic (Kussmaul) breathing
o Bradycardia
o Confusion/depressed cerebral state
o Blue peripheries
o Absent urine output
o Hypotension
• In early, compensated shock,  the blood pressure is maintained by increased heart and respiratory rate,
redistribution of blood from venous reserve volume and diversion of blood flow from non-essential tissues
such as the skin in the peripheries, which become cold, to the vital organs like brain and heart
• In shock due to dehydration  there is usually >10% loss of body weight and a profound metabolic acidosis
 which is compounded by failure to feed and drink while severely ill
• After acute blood loss or redistribution of blood volume because of infection  low blood pressure is a late
feature  it signifies that compensatory responses are failing
• In late or uncompensated shock  compensatory mechanisms fail, blood pressure falls and lactic acidosis
increases  it is important to recognise early compensated shock, as this is reversible, in contrast to
uncompensated shock, which may be irreversible
Understand and demonstrate which antibiotics would be most appropriate empiric choice based on age and
presentation of the child with septicaemia
• Newborns & infants in the first 6-8 weeks of life should generally receive  unless a clear aetiology is known
o Ampicillin and gentamicin
o Ampicillin and cefotaxime
o Ampicillin and ceftriaxone
• In older infants and children generally a third generation cephalosporin is given alone
• Patients with indwelling lines are given vancomycin is MRSA is suspected
Demonstrate awareness of escalation of treatment of septicaemia and shock and the role of appropriate airway
management, inotropic support and intensive care management
• Management priority is fluid resuscitation  rapid restoration of the
intravascular circulating volume is the priority  this will usually be
with 0.9% saline, or blood if following trauma
• If there is no improvement following fluid resuscitation or there is
progression of shock and respiratory failure  a PICU should be
involved and transfer arranged as the child may need
o Tracheal intubation & mechanical ventilation
o Invasive monitoring of BP
o Inotropic support
o Correction of haematological, biochemical and metabolic derangements
o Support for renal or liver failure
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Know how to record information in patient notes to enable a relevant and structured handover when needed i.e. To ICU
staff
Diagnosis to be Symptoms and signs in conjunction with fever

considered
Meningococcal disease Non-blanching rash, particularly with 1 or more of the following:

• an ill-looking child
• lesions larger than 2 mm in diameter (purpura)
• capillary refill time of ≥3 seconds
• neck stiffness
Bacterial meningitis Neck stiffness

Bulging fontanelle
Decreased level of consciousness
Convulsive status epilepticus
Herpes simplex Focal neurological signs

encephalitis Focal seizures
Decreased level of consciousness
Pneumonia Tachypnoea (respiratory rate >60 breaths/minute, age 0–5 months; >50
breaths/minute, age 6–12 months; >40 breaths/minute, age >12 months)
Crackles in the chest
Nasal flaring
Chest indrawing
Cyanosis
Oxygen saturation ≤95%
Urinary tract infection Vomiting

Poor feeding
Lethargy
Irritability
Abdominal pain or tenderness
Urinary frequency or dysuria
Septic arthritis Swelling of a limb or joint

Not using an extremity
Non-weight bearing
Kawasaki disease Fever for more than 5 days and at least 4 of the following:
• bilateral conjunctival injection
• change in mucous membranes
• change in the extremities
• polymorphous rash
• cervical lymphadenopathy
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ALLERGY
Understand the pathophysiology of allergic reactions
• Many genes have been linked to the development of allergic disease  polymorphisms or mutations in these
genes lead to a susceptibility to allergy
• Allergic diseases occur when individuals make an abnormal immune response to harmless environmental
stimuli, usually proteins  the developing immune system must be ‘sensitised’ to an allergen before an
allergic immune response develops  however, sensitisation can be ‘occult’ – eg. sensitisation to egg from
exposure to trace quantities of egg in maternal breast milk
• Only a few stimuli account for most allergic disease
o Inhalant allergens  eg. house-duct mite, plant pollens, pet dander and moulds in asthma and rhinitis
and conjunctivitis
o Ingestant allergens  eg. nuts, seeds, legumes, cow’s milk, egg, seafood and fruits in acute allergic
reactions or eczema
o Insect stings/bites, drugs and natural rubber latex
• Proteins with an unstable tertiary structure may be rendered non-allergenic by heat degradation or other
forms of processing  for example, some children are allergic to raw apples, but can tolerate eating cooked
apples
• Allergic immune responses are classified as IgE mediated or non-IgE mediated  IgE mediated allergic
reactions have a characteristic clinical course
o An early phase, occurring within minutes of exposure to the allergen  caused by release of
histamine and other mediators from mast cells  causes urticarial, angioedema, sneexzing and
bronchospasm
o A late phase response may also occur after 4-6hrs  this causes nasal congestion in the upper airway,
and cough & bronchospasm in the lower airway
• The majority of severe life-threatening allergic reactions are IgE mediated  non-IgE mediated allergic
responses have a delayed onset of symptoms and more varied clinical course
• The pathophysiology is as follows:
o This is a type 1 hypersensitivity reaction  
o Involves IgE and mast cells  the IgE is derived from B-
cells that are activated by exposed TH2 cells via the
release of IL4  the initial exposure leads to the
recruitment of eosinophils 
o The IgE molecules bound to the Fc receptors on mast
cells are cross-linked by specific antigens  
o This cross-linking leads to the release of preformed
inflammatory mediators and the production and
subsequent release of arachidonic acid derived
inflammatory mediators  
o The mediators have the effect of inducing inflammation
and leads to marked vasodilation, smooth muscle
contraction, increased small vessel permeability and
increased secretion of mucus  
List the common allergens and their presenting features in children

• Allergic children develop individual allergic disorders at different ages  the presence of eczema or food
allergy in infancy is predicitive of asthma & allergic rhinitis in later life
o Eczema and food allergy usually develop in infancy  both are often present
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o Allergic rhinitis, conjunctivitis and asthma occur most often in preschool and primary school years
o Rhinitis & conjunctivitis often precede the development of asthma  in children with asthma, up to
80% have coexistent rhinitis
FOOD ALLERGY & INTOLERANCE

• Presentation varies with the agent and the child’s age
o In infants  most common causes are milk, egg and peanut
o In older children  peanut, tree nut, fish and shellfish
• Clinical features have previously been discussed
ECZEMA
• Eczema can be atopic or non-atopic  atopic is classified as an allergic disease and many affected children
will have a FHx of allergy  at least 50% develop other allergic diseases and IgE antibodies to common
allergens are present
• There is a close relationship between eczema and food allergy  particularly in young infants with severe
disease  up to 40% of them have an IgE mediated food allergy – in particular egg allergy
• The core symptom of eczema is puritus with rash & excoriations  these are dry and may show
lichenification
ALLERGIC RHINITIS & CONJUNCTITIVITS

• This can also be atopic or non-atopic  it can be classified as intermittent or persistent and mild or severe
• It affects up to 20% of children and can severely disrupt their lives
• It is associated with eczema, sinusitis & adenoidal hypertrophy  it is closely associated with asthma
ASTHMA
• Affected children often have IgE antibodies to aeroallergens  allergen avoidance is difficult to achieve
URTICARIA & ANGIOEDEMA

• Usually in response to an allergen or viral infection  it involves deeper skin tissue to produce swelling of the
lips and soft tissue around the eyes and even anaphylaxis
• Chronic urticaria  >6 weeks is usually not allergic  it results from a local increase in the permeability of
capillaries and venules  these changes are dependent on activation of skin mast cells
• Classification of urticarial/angioedema
o Acute  resolve within 6 weeks  allergy such as food or drug reactions or infection are common
triggers
o Chronic idiopathic  intermittent for at least 6 weeks
o Physical urticarias
▪ Cold ▪ Solar
▪ Delayed pressure ▪ Vibratory urticarial
▪ Heat contact
o Other causes
▪ Water (aquagenic), sweating (cholinergic) or exercise-induced
▪ Aspirin and other NSAIDs
▪ C1-esterase inhibitor deficiency  angioedema only
INSECT STING HYPERSENSITIVITY

• This arises from bee or wasp stings, but also from ant bites in the USA, Asia & Australia
• This allergy can be
o Mild  local swelling
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o Moderate  generalised urticarial
o Severe  systemic symptoms with wheeze or shock
• Children with a previous mild reaction are unlikely to develop a severe reaction
Outline initial investigations and management of common allergies

HISTORY & EXAMINATION
• The child and family may not volunteer a history of allergic disease as they have come to consider the
symptoms as normal  e.g. the child who coughs most nights or has a blocked nose most of the time may not
perceive this as abnormal
• As allergic diseases are multisystem, in addition to the signs of individual allergic diseases, examination may
reveal:
o Mouth breathing  children who habitually breathe with their mouth open may have an obstructed
nasal airway from rhinitis, and there may also be a history of snoring or obstructive sleep apnoea
o An allergic salute  from rubbing an itchy nose
o Pale and swollen inferior nasal turbinates
o Hyperinflated chest or Harrison sulci from chronic undertreated asthma
o Atopic eczema affecting the limb flexures
o Allergic conjunctivitis  may also be prominent creases (Dennie-Morgan folds) and blue-grey
discoloration below the lower eyelids
• Growth needs to be checked  especially in those with food allergy, where dietary restrictions or
malabsorption can lead to nutritional compromise  and in those treated with high-dose
inhaled/nasal/topical corticosteroids
INVESTIGATIONS
• Blood tests to check for markers of hypersentiivty
• Patch testing  can be done for cutaneous allergies
MANAGEMENT
• The individual diseases are managed by GP, paediatricians or organ-specific specialists  e.g. eczema by
dermatologists, asthma by respiratory paediatricians
• However, allergic diseases coexist  therefore helpful to consider allergy as a systemic disease
• The role of paediatric allergists is to identify triggers to avoid  and to manage children with multisystem or
severe disease
• Management of specific conditions depends on the allergy  but is generally the use of antihistamines if
needed along with steroids
• An epipen must be provided if severe anaphylaxis occurs in patients  there is also the option for systemic
desensitisation for a few common allergies.
• Specific allergen immunotherapy can be used for treating allergic rhinitis and conjunctivitis, insect stings,
anaphylaxis and asthma
• During immunotherapy  solutions of an allergen to which the patient is allergic are injected subcutaneously
or administered sublingually on a regular basis for 3–5 years  with the aim of developing immune tolerance
 it is highly effective in providing protection for many years  however, it must be carried out under
specialist supervision due to the risk of inducing severe allergic reactions (anaphylaxis)
• Allergen immunotherapy is widely used in the USA and some countries in Europe  sublingual
immunotherapy appears to be safer than subcutaneous injections and is used increasingly  immunotherapy
for food allergy is under investigation, but has not yet been shown to be safe for use in clinical practice
Recognise the importance of drug reactions and the common ones seen in children
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• Drug allergies do occur in children, especially to antibiotics  but only a minority who are labelled ‘drug
allergic’ are truly allergic
• This is usually because viral illnesses, for which children are often prescribed antibiotics, themselves cause
skin rashes  a detailed history is required of the nature and timing of the rash in relation to taking the
antibiotics
• Allergy skin and blood tests can be used to support a diagnosis of drug allergy  but a drug challenge may be
the only way to conclusively confirm or refute the diagnosis  this is contraindicated after a severe allergic
reaction and an alternative drug should be sought
• Other drug reactions
o Antibiotics – penicillin and cephalosporins  
o Local anaesthetic (lidocaine)  
o Analgesics (aspirin, NSAIDSs – ibuprofen)  
o Opiates – codeine, morphine  
o Dextran  
o Radiocontrast media  
Understand how to report severe drug reactions

• There is a form called the yellow card that should be submitted with the details of the incident to the
medicines and healthcare products regulatory agency
Outline the immediate treatment of drug reactions and be aware of resources available to assist management
• Stop using the drug that is thought to be the cause  
• Start a new drug if the existing condition needs urgent treatment  
• Consider altering the dose or temporarily stopping the drug  treatment  
• Consider the effects of drug-drug interactions  
• Consider the possibility of withdrawal effects if withdrawn too fast  
• Provide treatment for the allergy include ABC and medication as  necessary  
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HIV/AIDS
Outline the epidemiology both in the worldwide setting and the UK
• Globally, HIV infection affects over 2 million children, mostly in sub-Saharan Africa  there are still 380,000
children becoming infected each year
• In 2015, 23 children were newly diagnosed with HIV - down from 131 in 2005  of these, 17 were born
abroad and arrived in the UK at an older age  of the 860 children born in 2015 to women living with HIV,
just one was known to have acquired the virus
• The major route of HIV infection in children is mother-to-child transmission  which occurs during
pregnancy, at delivery or through breastfeeding  the virus may also be transmitted to children by infected
blood products, contaminated needles or through child sexual abuse
Outline the short and long term risks

• A proportion of HIV-infected infants progress rapidly to symptomatic disease and onset of AIDS in the 1 st year
of like  however, other infected children remain asymptomatic for months or years before progressing to
clinical disease  some asymptomatic children will only be identified in adolescence at routine screening
following diagnosis in another family member
• Clinical presentation varies with the degree of immunosuppression
o Mild immunosuppression  may have lymphadenopathy or parotitis
o Moderate immunosuppression  may have recurrent bacterial infections, candidiasis, chronic
diarrhoea and lymphocytic interstitial pneumonitits (LIP)
o Severe AIDS  diagnoses include opportunistic infections (eg. Pneumocystis jiroveci – PCP), severe
FTT, encephalopathy, malignancy
• NB – the lymphocytic infiltration of the lungs may be caused by a response to the HIV infection itself, or it may
be related to EBV infection
• More than one clinical feature is often present  an usual constellation of symptoms, especially if infectious,
should alert one to HIV infection
• Short & Long Term  
o Opportunistic infections  TB, PCP, Toxoplasmosis, MAC, VZV, HSV, CMV, Candida  
o Blood problems  thrombocytopenia, anaemia, neutropenia  
o Diet  high energy, high protein
• Long Term
o Compliance  
o Failure to thrive  
o Risk of transmission  
o HIV encephalopathy  
o Neuropathy and myelopathy  
o Cancers – Kaposi’s sarcoma, Non-Hodgkin’s lymphoma  
Understand the prevention and treatment options

REDUCTION OF VERTICAL TRANSMISSION
• Mothers who are most likely to transmit HIV to their infants are those with a high HIV viral load and more
advanced disease  where mothers breast-feed, 25–40% of infants become infected with HIV  it is known
that avoidance of breast-feeding reduces the rate of transmission
• In developed countries  perinatal transmission of HIV has been reduced to <1% by using a combination of
interventions:
o Use of maternal antenatal, perinatal and postnatal antiretroviral drugs to achieve an undetectable
maternal viral load at the time of delivery
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o Avoidance of breast-feeding
o Active management of labour and delivery, to avoid prolonged rupture of the membranes or
unnecessary instrumentation
o Pre-labour Caesarean section if the mother’s viral load is detectable close to the time of delivery
• This effective combination of interventions is not available to all women globally
• Avoidance of breast-feeding is not safe in many parts of the world, where use of formula-feeding increases
the risk of gastroenteritis and malnutrition  it may be safer for babies in this environment to breast-feed
• Antiretroviral drugs may be given to the breast-feeding baby or mother to reduce the ongoing risk of mother-
to-child transmission through this route
TREATMENT
• A decision to start anti-retroviral therapy (ART) is based on a combination of clinical status, HIV viral load and
CD4 count  except in infants who should all start ART shortly after diagnosis, because they have a higher
risk of disease progression  as in adults, combinations of three (or four) drugs are used
• Prophylaxis against Pneumocystis jiroveci (carinii) pneumonia (PCP)  with co-trimoxazole  is prescribed for
infants who are HIV-infected, and for older children with low CD4 counts
• Other aspects of management include
o Immunisation  which is important because of the high risk of infections  should follow the routine
vaccination schedule, with the exception of BCG which should not be given as it is a live vaccine that
can cause disseminated disease  additional vaccination against influenza, hepatitis A, B & VZV
should be considered
o Multidisciplinary management of children  if possible in a family clinic  where they can be seen
together with other members of their family who may be HIV-infected and where the team includes
an adult specialist  the team will need to address issues such as adherence to medication,
disclosure of HIV diagnosis and planning for the future
o Regular follow-up  with particular attention paid to weight, neurodevelopment and clinical signs
and symptoms of disease  effective antiretroviral therapy has transformed HIV infection into a
chronic disease of childhood  paediatric HIV clinics increasingly manage adolescents when there
may be issues relating to maintaining ART adherence and address maternal issues such as safe sex
practices, fertility and pregnancy
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INFECTIOUS MONONUCLEOSIS
List the clinical features
• Infectious mononucleosis  also known as glandular fever and caused by the Epstein-Barr virus
• EBV is the major cause of the infectious mononucleosis syndrome  but is also involved in the pathogenesis
of Burkitt lymphoma, lymphproliferative disease in immunocompromised hosts and nasopharyngeal
carcinoma
• The virus has a particular tropism for B lymphocytes and epithelial cells of the pharynx  transmission usually
occurs by oral contact and the majority of infections are subclinical
• Older children and occasionally young children may develop a syndrome with
o Fever
o Malaise
o Tonsilopharyngitis  often severe, limiting oral ingestion of fluids/food  rarely, breathing may be
compromised
o Lymphadenopathy  prominent cervical lymph nodes  often with diffuse adenopathy
• Other features include
o Petechiae of the soft palate
o Splenomegaly (50%)  Hepatomegaly (10%)
o A maculopapular rash (5%)
o Jaundice
• Acute infectious mononucleosis presents with a history of 1-2 weeks of fatigue and malaise  however onset
may be abrupt  the incubation period in adolescents is 30-50 days  but is shorter in younger children
• Symptoms include a sore throat, headache, fever, myalgias, nausea and abdominal pain  sore throat is the
most frequent presenting symptoms, which gradually worsens over the first week  it may be the most
severe sore throat the patient has experienced
• Headaches usually occur during the first week and may be retro-orbital
• LUQ pain may be due to splenic enlargement and severe abdominal pain may indicate splenic rupture
• Symptoms usually persist for 2-3 weeks but fatigue is often prolonged  infants and young children with
primary infection are usually asymptomatic.  
• Children younger than 4 years frequently have splenomegaly or hepatomegaly, rash and symptoms of an URTI
• More than 90% of patients develop fever which is more severe in the afternoon, typically peaking at 38-39oC
but may reach 40oC  fever resolves over 10-14 days  pulse is normal and tachycardia is unusual.  
Be aware of the complications and treatment

• Diagnosis is support by
o Atypical lymphocytes  numerous large T cells seen on blood film
o A positive Monospot test  the presence of heterophile antibodies  i.e. antibodies that agglutinate
sheep or horse erythrocytes but which are not absorbed by guinea pig kidney extracts – this test is
often negative in young children with the disease
o Seroconversion with production of IgM and IgG to Epstein–Barr virus antigens.
• Symptoms may persist for 1-3 months, but ultimately will resolve  they are caused by the host immune
response to the infection, rather than the virus itself
• Treatment is symptomatic  when the airway is severely compromised – corticosteroids may be considered
• In 5% of infected individuals  group A streptococcus is grown from the tonsils  this may be treated with
penicillin
• Ampicillin or amoxicillin may cause a florid maculopapular rash in children infected with EBV and should be
avoided
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o Hepatitis  90%  
o Jaundice  5%  
o Mild thrombocytopenia  50%  
o Haemolytic anaemia  0.5-3%  
o Upper airway obstruction due to tonsil hypertrophy  0.1-1%  
o Splenic rupture  0.1-0.2%  
o Neurological complications  1%  
o Many neurological conditions including coma, meningitis, encephalitis, cranial nerve palsies etc  
o Myocarditis and pericarditis  
o Reye syndrome  
o Chronic fatigue syndrome  
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KAWASAKI DISEASE
Recognise the presenting features
• Kawasaki disease is a systemic vasculitis  although uncommon, it is an important diagnosis to make because
aneurysms of the coronary arteries are a potentially devastating complication  prompt treatment reduces
their incidence
• Mainly affects children of 6 months to 4y/o, with a peak at the end of the first year  this disease is more
common in children of Japanese and, to a lesser extent, Afro-Caribbean ethinicity, than in Caucasians
• Young infants tend to be more severely affected than older children  more likely to have ‘incomplete’ cases,
in which not all the cardinal features are present
• Although the specific cause is unknown, it is likely to be the result of immune hyperreactivity to a variety of
triggers in a genetically susceptible host  a polymorphism in the ITPKC gene, a negative regulator of T-cell
activation on chromosome 19 is strongly associated with susceptibility to the disease
• In addition to the classic features, affected children
o Are strikingly irritable
o Have a high fever that is difficult to control
o Have inflammation of their BCG vaccination site
o Have high inflammatory markers  CRP, ESR & WCC
o A platelet count that rises typically in the second week of the illness.
• The symptoms Kawasaki disease usually develop in three phases.
PHASE 1 – ACUTE (WEEKS 1-2)

• During the acute phase the child’s symptoms will appear very suddenly and can often be severe
• These are high fever, conjunctival injection, rash, changes in hands and feet, swollen lymph glands and
changes to the lips, mouth and tongue (red, dry, cracked, peeling, swollen or bleeding)
PHASE 2 – SUB-ACUTE (WEEKS 3-4)

• During this phase the symptoms will become less severe but may last longer  the fever should subside but
there may be persistent irritability and considerable pain
• The symptoms during this stage may include peeling skin, abdominal pain, vomiting, diarrhoea, urine that
contains puss, lethargy, headache, joint pain and jaundice
• It is in this phase that complications such as coronary artery aneurism are likely to develop
PHASE 3 – CONVALESCENT (WEEKS 4-6)

• The child will begin to recover and all signs of illness should disappear  however the child may still lack
energy and is easily worn out during this time
• Occasionally complications can also occur in this phase
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List the diagnostic criteria

• There is no diagnostic test  instead, the diagnosis is made on clinical findings
• NICE guidelines say a child has Kawasaki disease if they have a fever of 38OC or above for >5 days along with at
least 4 of the following key symptoms:
o Conjunctival injection in both eyes  
o Change to the mouth or throat – such as dry cracked lips or a red  swollen tongue  
o Changes to the skin on the arms or legs such as swelling, redness  or peeling skin  
o Arash  
o Swollen lymph nodes of the neck  
Be aware of the investigations and treatment options

• Prompt treatment with intravenous immunoglobulin (IVIG) given within the first 10 days has been shown to
lower the risk of coronary artery aneurysms
• Aspirin is used to reduce the risk of thrombosis  it is given at a high anti-inflammatory dose until the fever
subsides and inflammatory markers return to normal  and continued at a low antiplatelet dose until
echocardiography at 6 weeks reveals the presence or absence of aneurysms
• When the platelet count is very high  antiplatelet aggregation agents may also be used to reduce the risk of
coronary thrombosis
• Children with giant coronary artery aneurysms may require long-term warfarin therapy and close follow-up.
• Children suspected of having the disease but who do not have all the clinical features should still be
considered for treatment
• Sometimes, fever recurs despite treatment and these children are given a second dose of IVIG  persistent
inflammation and fever may require treatment with infliximab, steroids or ciclosporin
List the long term complications

• The coronary arteries are affected in about one-third of affected children within the first 6 weeks of the illness
 this can lead to aneurysms which are best visualised on echocardiography
• Subsequent narrowing of the vessels from scar formation can result in myocardial ischaemia and sudden
death  mortality is 1–2%
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IMMUNODEFICIENCY
List the main causes of immunodeficiency
• Immune deficiency may be
o Primary (uncommon)  an intrinsic defect in the immune system  most commonly they are due to
mutation on genes associated with immunological functions  most are autosomal recessive, with a
few being autosomal dominant or x-linked
o Secondary (more common)  caused by another disease or treatment
▪ Intercurrent bacterial or viral infection
▪ Malignancy
▪ Malnutrition
▪ HIV infection
▪ Immunosuppressive therapy
▪ Splenectomy
▪ Nephrotic syndrome
• Immunodeficiencies are characterised by infections that sent to be Serious, Persistent, Unusual and Recurrent
(SPUR)  the type of defect often relates to the infections seen in that disease
T CELL DEFECTS
• Severe and/or unusual viral and fungal infections and failure to thrive in the first months of life  e.g. severe
bronchiolitis, diarrhoea, oral thrust and PCP
o Severe combined immunodeficiency (SCID)  a heterogeneous group of inherited disorders of
profoundly defective cellular humoral immunity altering both T and B cell lymphocytes  it is only
treatable by bone marrow transplantation  
o HIV infection  causes a progressive T cell deficiency
o Wiskott-Aldrich  a triad with thrombocytopenia and eczema  x-linked
o DiGeorge  with maldevelopment of the 5th brachial arch causing heart defects, placental and facial
defects, an absent thymus and hypocalcaemia
o Duncan syndrome  inability to make a normal response to EBV and child either succumbs to
infection or develops secondary lymphoma
o Ataxia telangiectasia  defect in DNA repair, also increased risk of lymphoma  there is cerebellar
ataxia and developmental delay  
B CELL DEFECTS  
• In the first 2 years there are severe bacterial infections  especially of the ear, sinus’, skin and pulmonary
system  there is often diarrhoea and failure to thrive
• Recurrent pneumonias can lead to bronchiectasis  recurrent ear infections to impaired hearing
o X-linked agammaglobulinaemia  abnormal tyrosine kinase gene, eseential for B-cell maturation
o Common variable immunodeficiency (CVID)  B cell deficiency, high risk of autoimmune disorders and
malignancy  later onset than above
o Hyper IgM syndrome  B cells produce IgM but prevented from switching to IgG and IgA
o Selective IgA deficiency  most common primary immune defect  usually asymptomatic or
recurrent ear, sinus and pulmonary infections  
NEUTROPHIL DEFECTS
• Recurrent bacterial infections  abscesses (skin, lymph nodes, lung, liver, spleen, bone), poor wound healing,
perianal disease and periodontal infections  invasive fungal infections such as aspergillosis.
• Diarrhoea and failure to thrive  granulomas from chronic inflammation
o Chronic granulomatous disease  most are x-linked recessive, some autosomal recessive  defect in
phagocytosis as fail to produce superoxide after ingestion of micro-organism
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LEUCOCYTE FUNCTION DEFECTS
• Delayed separation of umbilical cord, delayed wound healing, chronic skin ulcers and dee-seating infection
o Leucocyte adhesion deficiency (LAD)  deficiency of neutrophil surface adhesion molecules leads to
inability of neutrophils to migrate to sites of infection/inflammation
COMPLEMENT DEFECTS
• Recurrent bacterial infections, SLE like illness, recurrent meningococcal infections with deficiency of the
terminal complement components
o Early complement component deficiency
o Terminal complement component deficiency
o Mannose-binding lectin (MBL) deficiency
Outline a strategy for prevention and treatment of infection.

• Antimicrobial prophylaxis  for T-cell and neutrophil defects give cotrimoxazole to prevent pneumocystis
jiroveci infection and itraconazole or fluconazole to prevent other fungal infections  for B-cell defects give
antibiotic prophylaxis (e.g. azithromycin) to prevent recurrent bacterial infections
• Antibiotic treatment  prompt treatment of infections, appropriate choice of antibiotics and a generally
longer courses with lower threshold for IV therapy.  
• Screen for end organ disease  e.g. CT scan in children with antibody deficiency to detect bronchiectasis  
• Immunoglobulin replacement therapy  for children with antibody deficiency and can be given IV so a
central venous line may be used  
• Bone marrow transplantation  can be a matched sibling donor, matched unrelated donor or haploidentical
transplant  used for SCID and chronic granulomatous disease  
• Gene therapy  for certain forms of SCID but associated with a risk of leukaemia  
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THYROID FEVER
Have a basic understanding of the clinical features and treatment
• A child with worsening fever, headaches, cough, abdominal pain, anorexia, malaise and myalgia may be
suffering from an infection with Salmonella typhi or paratyphi
• Typhoid is contracted from contaminated drinking water or food
• Gastrointestinal symptoms may not appear until the 2nd week  diarrhoea or constipation
• Splenomegaly, bradycardia and rose-coloured spots on the trunk may be present
• Serious complications of this disease include
o Gastrointestinal perforation
o Myocarditis
o Hepatitis
o Nephritis
• The recent increase in mutli-drug resistant strains  particularly from the Indian subcontinent  means that
treatment with cotrimoxazole, chloramphenicol or ampicillin may be inadequate  a 3rd generation
cephalosporin or azithromycin is usually effective
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MALARIA
Outline the clinical features, including cerebral malaria, and the main treatment options
• 40% of the world’s population live in an area where the female Anopheles mosquito transmits malaria 
causes over 700,000 child deaths in Africa every year  predominantly from Plasmodium falciparum malaria
• Children are the worst affected  especially children aged 6 months to 5 years
o Fever  often not cyclical
o Diarrhoea
o Vomiting
o Flu-like symptoms
o Jaundice
o Anaemia
o Thrombocytopenia
• Whilst typically the onset is 7-10 days after inoculation  infections can present many months later
• Children are particularly susceptible to severe anaemia and the gravest form of the disease  cerebral
malaria
• Cerebral malaria is a rapidly developing encephalopathy which only occurs in 20-50% of people who develop
malaria  it occurs when parasites adhere to the cerebral microvasculature causing blockage  this loads to
a shortage of oxygen to this site and therefore numerous complications  around half these patients have
elevated ICP and seizures
• The infection is diagnosed by examination of a thick film  is species (falciparum, vivax, ovale or malariae) is
confirmed on a thin film  repeated blood films may be necessary
• Quinine is required in most cases of Plasmodium falciparum seen in the UK  because of the emergence of
chloroquine-resistant strains worldwide
• Prophylaxis reduces, but does not eliminate the risk of infection  prevention of mosquito bites with
repellents and bed nets is also important
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Musculoskeletal CP2 Learning Objectives Child Health
MUSCULOSKELETAL
ABNORMAL POSTURE
Be able to discuss the incidence, risk factors, screening tools, presentation and basic management of developmental
dysplasia of the hip (DDH)
• DDH is a spectrum of disorders ranging from dysplasia to subluxation through a frank dislocation of the hip
• Early detection is important, as it usually responds to conservative treatment  late diagnosis is usually
associated with hip dysplasia, which requires complex treatment often including surgery
• Neonatal screening is performed as part of the routine examination of the newborn  checking if the hip can
be dislocated posteriorly out of the acetabulum (Barlow manoeuvre) or can be relocated back into the
acetabulum on abduction (Ortolani manoeuvre)  these tests are repeated at routine surveillance at 8 weeks
of age
• After 8 week  presentation of the condition is usually with a limp or abnormal gait  it may be identified
from asymmetry or skinfolds around the hip, limited abduction of the hip or shortening of the affected leg
• On neonatal screening  an abnormality of the hip is detected in about 6-10 per 1000 live births  clinical
neonatal screening misses some cases  this may be because of inexperience of the examiner, but in some it
is not possible to clinically detect dislocation at this state – eg. where there is only a mildly shallow
acetabulum
• To overcome these problems, some centres perform US screening on all newborn infants  it is highly
specific in detecting DDH, but is expensive and has a high rate of false positives, and it not recommended in
the UK  it is performed in some centres in infants at increased risk due to FHx or breech presentation
• If DDH is suspected  a specialist orthopaedic opinion should be obtained  an US examination allows
detailed assessment of the hip, quantifying the degree of dysplasia and whether there is subluxation or
dislocation
• If the initially US is abnormal  the infant may be placed in a splint or harness to keep the hip flexed and
abducted for several months  progress is monitored by ultrasound of X-ray  the splinting must be done
expertly as necrosis of the femoral head is a potential complication
• In most instance, a satisfactory response is obtained with splinting or harnesses  however, surgery is
required if conservation measures fail
Be aware of normality, causes and orthotic management of flat feet and forefoot adduction
• Flat foot is known as pes planus  whilst forefoot adduction is known as talipes equinovarus or position
talipes
FLAT FOOT
• Toddlers learning to walk usually have flat feet due to flatness of the medial longitudinal arch and the
presence of a fat pad which disappears as the child gets older  an arch can usually be demonstrated on
standing on tiptoe or by passively extending the big toes
• Marked flat feet is common in hypermobility  symptomatic flat feed are often helped with footwear advice
and occassionally, an arch support may be required
• In older children & adolescents, a rigid flat foot is pathological  it is suggested by absences of a normal arch
on tip toeing  it may be due to an associated tendo-Achilles contracture (ankle), or tarsal coalition or
inflammatory arthropathy (JIA)
• Tarsal coalition  results from lack of segmentation between one or more bones of the foot  and coalitions
that were fibrous or cartilaginous become symptomatic as they begin to ossify  they become progressively
more rigid and limit normal foot motion  they often become symptomatic during the pre-adolescent years
 radiographs may be normal if the bones have not yet ossified  corrective surgery may be require
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FOREFOOT ABDUCTION
• Positional talipes from intrauterine compression is normal  the foot is of normal size, the deformity is mild
and can be corrected to the neutral position with passive manipulation  often the baby’s intrauterine
posture can be recreated  if the positional deformity is marked, parents can be shown passive exercises by
the physiotherapist
• Talipes equinovarus is a complex abnormality  the entire foot is inverted and supinated, the forefoot
adducted and the heel is rotated inwards and in plantar flexion  the affect foot is shorter and the calf
muscle thinner than normal  the position of the foot is fixed, cannot be corrected completely and is often
bilateral
• The birth prevalence is 1 in 1000 live birth  affects predominantly males (2:1) and can be familial, but is
usually idiopathic  however, it may also be
o Secondary to oligohydramnios during pregnancy
o A feature of a malformation syndrome
o A feature of a neuromuscular disorder  such as spina bifida
• There is an association with developmental dysplasia of the hip (DDH)
• Treatment is started promptly with plaster casting and bracing (Ponsetti method)  which may be required
for many months  it is usually successful unless the condition is very severe, when corrective surgery is
required
Be aware of the causes, significance, principles of interventional management for scoliosis

• Scoliosis is a lateral curvature in the frontal plane of the spine 
in structural scoliosis, there is rotation of the vertebral bodies
which causes a prominence in the back from rib symmetry
• In most cases, the changes are mild, pain-free and primarily a
cosmetic problem  however, in severe cases, the spinal
curvature can lead to cardiorespiratory failure from distortion of
the chest
• Causes of scoliosis are
o Idiopathic  the most common, either early onset
(<5yrs old), or late onset - mainly girls 10-14yrs during
their pubertal growth spurt
o Congenital  from a congenital structural defect of the
spine  eg. hemivertebra, spina bifida, syndromes
(VACTERL)
o Secondary  related to other disorders, such as
neuromuscular imbalance (eg. CP, dystrophy) 
disorders of bone, such as Marfan syndrome or leg
length discrepancy (eg. due to arthritis of one knee in
JIA
• Examination should start with inspection of the child’s back while standing up straight  in mild scoliosis
there may be irregular skin creases and difference in shoulder height
• The scoliosis can be identified on examining the child’s back when bent forward  if the scoliosis disappears
on forward bending, it is postural although leg lengths should be checked
• Mild scoliosis will resolve spontaneously, or progresses minimally  if more severe, the severity and
progression of the curvature of the spine is determined by x-ray
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• Severe cases are managed in specialist spinal centres where the place of non-medical treatment  such as
bracing will be considered, with surgery only indicated if severe or there is coexisting pathology, such as
neuromuscular or respiratory disease
List the causes for acute presentation and chronic conditions causing torticollis
• Torticollis is a flexion, extension or twisting of the muscle in the neck that allows the neck to move beyond its
normal position  this condition can develop slowly, especially if there is a family history, or with acute
trauma or an adverse reaction to medication
• The most common cause of torticollis (wry neck) in infants is a sternomastoid tumour (congenital muscular
torticollis)  they occur in the first few weeks of life and present with a mobile, non-tender nodule, which
can be felt within the body of the SCM muscle  there may be restriction of head turning and tilting of the
head
• The condition usually resolves in 2-6 months  passive stretching is advised, but its efficacy is unproven
• Torticollis presenting later in childhood may be due to muscular spasm or secondary ENT infection, spinal
tumour (osteoid osteoma), cervical spine arthritis or malformation or posterior fossa tumour
Outline the management of acute torticollis

• Painkillers are useful  should include paracetamol & ibuprofen  possibly with a muscle relaxant, such as
diazepam  but use caution in children  
• Exercise of the neck and remaining active are important to stop the neck stiffening
• Heat packs and good posture  
• If persistent then botox may help  
• Surgery is reserved for very severe cases  involves severing the nerves around the muscle to force
relaxation
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INFECTION OF BONES & JOINTS

Understand clinical features, causative factors, investigations, immediate intervention and management of osteomyelitis
• In osteomyelitis, there is infection of the metaphysis of long bones  the most common sites are the distal
femur and proximal tibia, but any bone may be affected  it is usually due to haematogenous spread of the
pathogen, but may arise by direct spread from an infected wound
• The skin is swollen directly over the affected site  where the joint capsule is inserted distal to the epiphyseal
plate (as in the hip), osteomyelitis may spread to caused septic arthritis
CAUSATIVE FACTORS
• Most infections are caused by Staphlococcus aureus, but other pathogens include Streptococcus and
Haemophilus influenzae if not immunised
• In sickle cell anaemia, there is an increased risk of staphylococcal and salmonella osteomyelitis
• Infection may be from tuberculosis  although rare in the UK, it needs to be considered, especially in the
immunodeficient child
CLINICAL FEATURES
• Osteomyelitis usually presents with markedly painful, immobile limb (pseudoparesis) in a child with an acute
febrile illness  directly over the infected site there is swelling and exquisite tenderness, and it may be
erythematous and warm  moving the limb causes severe pain  there may be a sterile effusion of an
adjacent joint
• Presentation may be more insidious in infants, in whom swelling or reduced limb movement is the initial sign
• Beyond infancy, presentation may be with back pain in a vertebral infection or with a limp or groin paint in
infection of the pelvis  occasionally, there are multiple foci  eg. disseminated staphylococcal or
H.influenzae infection
INVESTIGATIONS
• Blood cultures are usually positive and the WCC and CRP are raised
• X-rays are initially normal, other than showing soft tissue swelling  it takes 7-10 days before subperiosteal
new bone formation and localised bone rarefaction to become visible
• Ultrasound may show periosteal elevation at presentation
• MRI allows indentification of infection in the bone and differentiation of bone from soft tissue 
subperiosteal pus & purulent debris in the bone is a sign of infection
• Radionuclide bone scan may be helpful if the site of infection is unclear
• Chronic osteomyelitis can be seen on X-ray as periosteal reaction along the shaft and multiple hypodense
areas with metaphyseal regions
MANAGEMENT
• Prompt treatment with parenteral antibiotics is required for several weeks to prevent
o Bone necrosis
o Chronic infection with a discharging sinus
o Limb deformity
o Amyoidosis
• Antibiotics are given IV until there is clinical recovery and CRP has returned to normal  followed by oral
therapy for several weeks
• Aspiration or surgical decompression of the subperiosteal space may be performed if the presentation is
atypical or in immunodeficient children
• Surgical drainage is performed if the condition does not respond rapidly to antibiotic therapy
• The affected limb is initially rested in a splint and subsequently mobilised
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Know about atypical presentations; subacute and chronic osteomyelitis
SUBACUTE OSTEOMYELITIS
• This is a distinct form of osteomyelitis  it is difficult to diagnose because the characteristic signs and
symptoms of the acute form of the disease are absent
• The disease has an insidious onset, mild symptoms and lacks a systemic reaction  supportive laboratory
data is also inconsistent
• Subacute osteomyelitis can mimic various benign and malignant conditions which can delay diagnosis
• The presenting symptoms include
o Mild to moderate localised pain  usually exacerbated by unusual physical activity
o Night pain  but relieved by aspirin
o Minimal loss of function
• On examination, there is is localised tenderness, occasionally associated with warmth, redness and soft tissue
swelling  pain may occur with movement of the adjacent joint and some joint effusion may be present 
the surrounding muscle may show signs of wasting
• The average duration of symptoms before diagnosis is 1-6 months
CHRONIC OSTEOMYELITIS
• If acute osteomyelitis is not treated it can progress to chronic osteomyelitis  producing permanent damage
• Chronic osteomyelitis can also develop as a complication or pre-existing infection from syphilis
• Multi-organism infections are common with chronic osteomyelitis
• Symptoms include
o Bone pain
o Persistent fatigue
o Pus draining from a sinus
o Local swelling
o Skin changes
o Excessive sweating
o Chills
Be aware of risks of undertreated/ untreated osteomyelitis

• Left untreated this condition can spread to other bones  causing widespread infection, sepsis and even
death
• With chronic disease  there is destruction of bone, which is permanent and may result in the need for
amputation due to poor vascularisation of the remaining bone
Describe the epidemiology, aetiology, pathogenesis, clinical features, investigations and management of septic arthritis
• Septic arthritis is a serious infection of the joint space, as it can lead to bone destruction  it is most common
in children <2yrs  it usually results from haematogenous spread, but may also occur following a puncture
wound or infected skin lesions  eg. chicken pox
• In young children, it may result from spread from adjacent osteomyelitis into joints where the capsule inserts
below the epiphyseal growth plate  usually one joint is affected, with the hip being a particular concern in
infants and young children
• Beyond the neonatal period, the most common organism is Staphylococcus aureus  usually only one joint is
affected  H.influenzae was an important cause in young children prior to Hib immunisation and often
affected multiple sites
• Underlying and predisposing illnesses should be considered  such as immunodeficiency and sickle cell
disease
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• This is usually with an erythematous, warm, acutely tender joint  with a
reduced range of movement  in an acutely unwell, febrile child
• Infants often hold the limb still and cry if it is moved  pseudoparesis or
pseudoparalysis
• A joint effusion may be detectable in peripheral joints  in osteomyelitits,
although a sympathetic joint effusion may be present, the tenderness is
over the bone, but in up to 15% there is co-existent septic arthritis
• The diagnosis of septic arthritis of the hip can be particularly difficult in
toddlers, as the joint is well covered by subcutaneous fat  initial
presentation may be with a limp or pain referred to the knee
INVESTIGATIONS
• There is an increased WCC and CRP  blood cultures must be taken
• Ultrasound of deep joints (hip) is helpful to identify an effusion
• X-rays are used to exclude trauma and other bony lesions  however, x-rays are initially normal, apart from
wideneing of the joint space and soft tissue swelling
• A bone scan may be helpful and an MRI may demonstrate an adjacent osteomyelitis
• Aspiration of the joint space under ultrasound guidance for organisms and culture is the definitive
investigation  ideally, this is performed immediately, unless this would cause a significant delay in giving
antibiotics
MANAGEMENT
• A prolonged course of antibiotics is required  initially IV
• Washing out of the joint or surgical drainage may be required if resoltuon does not occur rapidly or if the joint
is deep-seated (hip)
• The joint is initially immobilised in a functional position  but subsequently must be mobilised to prevent
permanent deformity
Be aware of special cases such as neonates, hip joint involvement, various organisms (such as tuberculosis), and septic
arthritis in immunocompromised patients
• Neonates  Staphylococcus aureus is most common  but E.coli and group B strep also cause disease
• TB  a rare cause of chronic pyogenic arthritis  can affect the spine
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FRACTURES
Understand common types of fractures and principles of management
• Fractures can be a sign of non-accidental injury  especially in those <30 months  the most common signs
NAI fractures are
o Ribs  posterior
o Long bones  eg. humerus –especially if not yet mobile
o Multiple fractures
o Complex skull fractures
• It is also important to rule out conditions that lead to a higher chance of fractures  such as osteogenesis
imperfecta and copper deficiency
• The epidemiology of fractures is different in children compared to adults  the risk of fracture increases with
age and boys are more likely to sustain one  trauma whilst playing sports or from playing events are the
causes of the majority of fractures
• The most common location is the upper extremities  including
o Distal foreman  22.7%
o Hand, phalanges  18.9%
o Carpal-metacarpal  8.3%
o Clavicle  8.1%  immobilise with a sling for 4-6 weeks
o Ankle  5.5%
• The management principles are to control haemorrhage, treat pain, prevent limb ischaemia and remove
potential sources of contamination  once this has been done the fracture should be reduced and the
reduction maintained  these should then be immobilised and splinted before being cast (6wks)
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ARTHRITIS
Outline the classification/subtypes of Juvenile idiopathic arthritis (JIA) including differences between these
• JIA  a persistent joint swelling (>6 weeks) presenting before 16yrs in the absences of infection or any other
defined causes  95% of children have a disease that is clinically and immunogentically distinct from RA in
adults
• JIA is the commonest chronic inflammatory joint disease in children and adolescents in the UK  affects 1 in
100 children, with over 12,000 affected children in the UK
• There are at least 7 different subtypes of JIA  its classification is clinical and based on the number of joints
affected in the first 6 months
o Polyarthritis  >4 joints o Systemic  with fever & rashes
o Oligoarthritis  up to and including 4 o Psoriatic arthritis
joints o Enthesitis
• Subtyping is further classified according to the presence of rheumatoid factor and HLA B27 tissue type
• Features in the history
o Gelling  stiffness after periods of rest
o Morning joint stiffness
o Pain
• It young children, it may present with intermittent limp or deterioration in behaviour/mood or avoidance of
previously enjoyed activities, rather than complaining of pain
• Initially, there may be only minimal evidence of joint swelling  but subsequently there may be swelling of
the joint due to fluid within it and inflammation  in chronic arthritis, proliferation of the synovium and
swelling of the periarticular soft tissues
• Long term, with uncontrolled disease activity, there may be bone expansion from overgrowth  which in the
knee may cause leg lengthening or valgus deformity  in the hands, discrepancy in digit length  in the
wrist, advancement of bone age
• If systemic features are present  sepsis and malignancy must always be considered
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Outline the known conditions associated with JIA such as uveitis
CHRONIC ANTERIOR UVEITIS
• This is common, but asymptomatic and can lead to severe visual impairment
• Regular ophthalmological screening using a slit lamp is indicated  especially for children with oligoarticular
disease
FLEXION CONTRACTURES OF THE JOINTS

• These occur when the joint is held in the most comfortable position  thereby minimising intra-articular
pressure
• Chronic untreated disease can lead to joint destruction and the need for joint replacement
GROWTH FAILURE
• This may be generalised from anorexia, chronic disease and systemic corticosteroid therapy
• May be localised overgrowth  such as leg length discrepancy due to prolonged active knee synovitis and
undergrowth  such as micrognathia, usually seen in long-standing or suboptimally treated arthritis due to
premature fusion of epiphyses
CONSTITUTIONAL PROBLEMS
• Anaemia of chronic disease
• Delayed puberty
• Amyloidosis  very rare now, but causes proteinuria and subsequent renal failure  has a high mortality
OSTEOPOROSIS
• Multifactorial aetiology  including diet, reduced weight bearing, systemic corticosteroids and delayed
menarche
• Reduced risk by
o Dietary supplements of calcium and vitamin D
o Regular weight-bearing exercise
o Minimise oral corticosteroids use
o Bisphosphonates
Appreciate the role of the multidisciplinary team members during the management of JIA patients
• Deformity and disability are much less common with current treatment approaches  the overall
management aim is to induce remission as soon as possible
• All children suspected of having JIA should be managed by specialist paediatric rheumatology MDT, often
working in shared care with local hospitals  such teams have specific paediatric expertise in the use and
monitoring of immunosuppressive treatments are now routinely used
• There is need for education and support for the child & family, physical therapy to maintain joint function,
and links to other specialities including ophthalmology, dentistry and orthopaediac
• The team work closely with school, social services and primary healthcare providers
• The child is encouraged to take part in all activities except contact sports during active flares  with optimal
care, most children are managed as outpatients
Understand common drugs used and importance of treatment of JIA

• NSAIDs & analgesics  do not modify disease, but help relieve symptoms during flares
• Joint infections, increasingly under ultrasound guidance  effective, first-line treatment for oligoarticular JIA
 in polyarticular disease multiple joint injections are used as bridging agent when starting methotrexate 
often requires sedation or inhaled anaesthesia (Entonox)
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• Methotrexate  early use reduces joint damage  effective in approx. 70% with polyarthritis  less
effective in systemic features of JIA  it is given as weekly dose and regular blood monitoring as required
(LFTs)  nausea is common
• Systemic corticosteroids  avoided if possible, to minimise risk of growth suppression and osteoporosis 
pulsed IV methylprednisolone often used for severe polyarthritis as an induction agent  may be life-saving
for severe systemic arthritis or macrophage activation syndrome
• Cytokine modulators (‘biologics’) and other immunotherapies  many agents (eg. anti-TNF alpha, IL-1, CTLA-
4 or IL-6) now available and useful in severe disease refractory to methotrexate  costly & given under strict
national guidance with registries for long-term surveillance  T-cell depletion coupled with autologous
haematopoetic stem cell rescue (bone marrow transplant) is an option for refractory disease
Be aware of outcome measures used in JIA

• Long-term outcome studies have shown that at least one in three children will have ongoing active disease
into adult years, with significant morbidity from previous inflammation  such as joint damage requiring joint
replacement surgery, visual impairment from uveitits or fractures from osteoporosis
• There is also significant psychosocial morbidity  however, with current management approaches it is
anticipated that long-term outcomes will improve
• Transitional care programmes are increasingly provided to facilitate the changes through adolescence and
young adulthood and to help young people learn how to manage their chronic disease independently
• Outcome measures include clinical damage, quality of life and measures of physical function
Understand the causes, different types, diagnostic criteria, lab investigations and radiological investigations of reactive
arthritis
• Reactive arthritis is the most common form of arthritis in childhood  it is characterised by transient joint
swelling (<6 weeks) often of the ankles or knees  it usually follows evidence of extra-articular infection
• The enteric bacteria are often the cause in children, but viral infections, STIs in adolescents, Mycoplasma &
Borrelia burgdoferi (Lyme disease) are other causes
• Enteric bacteria  Salmonella, Shigella, Campylobacter & Yersinia
• Rheumatic fever and post-streptococcal reactive arthritis are rare in developed countries  but are frequent
in many developing countries  reactive arthritis can be divided into post-steptococcal, post-infectious and
classical reactive arthritis following GI/urinary tract infection
o Post-streptococcal  rarely seen in developed countries  requires antibiotic treatment
o Classical reactive  inflammation in the absence of bacteria in the joint space
o Post-infective  includes most other
• Fever is low grade  with inflammation of joints, skin, mucous membranes, urinary and GI tract  the eyes
are also commonly affected
• CRP is normal or mildly elevated  X-rays are normal  no treatment or only NSAIDs are required and
complete recovery can be anticipated
• HLA-B27 is positive in 65-96% of patients
• Chronic cases may require steroids and methotrexate if there is no active infection
• With regards to physical therapy the patient should rest and avoid using the affected joint  as the
symptoms improve there should be a graded programme of exercise that is designed to strengthen affected
muscle groups and improve the range of movement.  
Know about pharmacological and physical therapy, along with course and prognosis
• Detailed above
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LIMP
Outline the aetiology, presentation, investigations, prognosis and basic management of Perthe’s disease
• This is an avascular necrosis of the capital femoral epiphysis of the femoral head due to interruption of the
blood supply  followed by revascularisation and reossification over 18-36 months
• Mainly affects boys (male:female ratio 5:1) of 5-10yrs of age  presentation is insidious, with the onset of a
limp, hip, knee pain  the condition may be mistaken for transient synovitis  it is bilateral in 10-20%
• If suspected, X-ray of both hips (including frog views) should be requested  early signs of Perthes include
increased density in the femoral head, which subsequently becomes fragmented and irregular  even if the
initial x-ray is normal, a repeat may be required if clinical symptoms persist  a bone scan and MRI scan can
be helpful in making the diagnosis
• Prognosis is dependent on early diagnosis  if identified early and less than half the femoral head is affected,
only bed rest and traction may be required
• In more severe disease or late presentations  the femoral head needs to be covered by the acetabulum to
act as a mould for the re-ossifying epiphysis and is achieved by maintaining the hip in abduction with plaster
or calipers, or by performing femoral or pelvic osteotomy
• In most children, the prognosis is good  particularly in those below 6 yrs of age with less than half the
epiphysis involved  in older children or with more extensive involvement of the epiphysis, deformity of the
femoral head and metaphyseal damage are more likely, with potential for subsequent degenerative arthritis
in adult life
List the risk factors, age distribution, clinical presentation, and basic interpretation of radiological investigations of
slipped upper femoral ephiphysis (SUFE)
• SUFE results in displacement of the epiphysis of the femoral head postero-inferiorly requiring prompt
treatment in order to prevent avascular necrosis
• It is most common at 10-15yrs of age during the adolescent growth spurt  particularly in obese boys (x2.4)
and is bilateral in 20%
• There is an association with metabolic endocrine abnormalities  eg. hypothyroidism and hypogonadism
• Presentation is with a limp or hip pain, which may be referred to the knee  the onset may be acute,
following minor trauma or insidious
• Examination shows restricted abduction and internal rotation of the hip
• Diagnosis is confirmed on x-ray  a frog lateral view should also be requested
• Management is surgical, usually with pin fixation in situ  this should however be based on whether the
condition is acute or chronic (>3 weeks) and whether the joint can bear weight or not  following surgery a
patient is given crutches for 6-8 weeks to reduce weight bearing, along with a course of physiotherapy
• Analgesia including NSAIDs should also be provided
Understand the causes, presentation, differential diagnosis and management of transient synovitis
• This is the most common cause of acute hip pain in children  it occurs in children aged 2-12 years old  it
often follows or is accompanied by a viral infection
• Presentation is with sudden onset of pain in the hip or a limp  there is no pain at rest, but there is
decreased range of movement, particularly internal rotation  the pain may be referred to the knee  the
child is afebrile or has a mild fever and does not appear ill
• It can be difficult to differentiate transient synovitis from early septic arthritis of the hip joint and if there is
any suspicion of septic arthritis, joint aspiration and blood cultures are mandatory
• In a small proportion of children, transient synovitis precedes the development of Perthes disease
• Management of transient synovitis is with bed rest, and rarely skin traction  it usually improves within a few
days
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RICKETS
To be aware about pathophysiology, causes, diagnosis and management
• Rickets signifies a failure in mineralisation of the growing bone or osteoid tissue  failure of mature bone to
mineralise is osteomalacia (adults)
PATHOPHYSIOLOGY
• Vitamin D deficiency usually results from deficient intake or defective metabolism of vitamin D  causing a
low serum calcium
• This triggers the secretion of parathyroid hormone and normalises the serum calcium but demineralises the
bone
• Parathyroid hormone causes renal losses of phosphate and consequently low serum phosphate levels 
further reducing the potential for bone calcification.
AETIOLOGY
• The predominant cause of rickets during the early 20th century was nutritional vitamin D deficiency due to
inadequate intake or insufficient exposure to direct sunlight
• Nutritional rickets still remains the major cause in developing countries  in developed countries, it has
become rare, as formula milk and many foods – such as breakfast cereals are supplemented with vitamin D 
however, it has re-emerged in developed countries in black or Asian infants totally breast-fed in late infancy
• It is also seen in extremely preterm infants from dietary deficiency of phosphorus, together with low stores of
calcium & phosphorus
• Children with malabsorptive conditions, such as CF, coeliac disease and pancreatic insufficiency can develop
rickets due to deficient absorption of vitamin D, calcium or both
• Drugs, especially anti-convulsants (phenobarbital & phenytoin) interfere with the metabolism of vitamin D
and may also cause rickets
• Rickets may also result from impaired metabolic conversion or activation of vitamin D  hepatic and renal
disease
• Nutritional (primary) rickets  risk factors o Cholestatic liver disease
o Living in northern latitudes o High phytic acids in diet  e.g.
o Dark skin chapattis
o Decreased exposure to sunlight  e.g. • Defective production of 25(OH)D2
in some Asian children living in the UK o Chronic liver disease
o Maternal vitamin D deficiency • Increased metabolism of 25(OH)D3
o Diets low in calcium, phosphorus and o Enzyme induction by anticonvulsants
vitamin D  e.g. exclusive breast-  e.g. phenobarbital
feeding into late infancy or, rarely, • Defective production of 1,25(OH)2D3
toddlers on unsupervised ‘dairy-free’ o Hereditary type I vitamin D-resistant
diets (or dependent) rickets  mutation
o Macrobiotic  strict vegan diets which abolishes activity of renal
o Prolonged parenteral nutrition in hydroxylase
infancy with an inadequate supply of o Familial (X-linked)
parenteral calcium and phosphate hypophosphataemic rickets  renal
• Intestinal malabsorption tubular defect in phosphate transport
o Small bowel enteropathy  e.g. o Chronic renal disease
coeliac disease o Fanconi syndrome  renal loss of
o Pancreatic insufficiency  e.g. cystic phosphate
fibrosis • Target organ resistance to 1,25(OH)2D3
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o Hereditary vitamin D-
dependent rickets type II  due to
mutations in vitamin D receptor gene
• The earliest sign of rickets is a ping-pong ball sensation of the skull (craniotabes) elicited by pressing firmly
over the occipital or posterior parietal bones
• The costochondral junctions may be palpable (rachitic rosary), wrists (crawling infants) and ankles (walking
infants) may be widened and there may be a horizontal depression on the lower chest corresponding to
attachment of the softened ribs and with the diaphragm
o Misery o Harrison sulcus
o Failure to thrive/short stature o Expansion of metaphysis (especially
o Frontal bossing of skull wrist)
o Craniotabes o Bowing of weight-bearing bones (legs)
o Delayed closure of anterior fontanelle o Hypotonia
o Delayed dentition o Seizures (late)
o Rickety rosary
DIAGNOSIS
• Dietary history for vitamin & calcium intake
• Blood tests
o Serum calcium  low or normal o 25-hydroxyvitamin D  may be low
o Phosphorus  low o PTH  elevated
o Plasma alkaline phosphatase activity
 greatly increased
• X-ray of the wrist joint  shows cupping and fraying of the metaphyses and a widened epiphyseal plate
MANAGEMENT
• Nutritional rickets is managed by advice about a balanced diet, correction of predisposing risk factors and by
the daily administration of vitamin D3 (cholecalciferol)
• If compliance is an issue  a single oral high dose of vitamin D3 can be given, followed by the daily
maintenance dose
• Healing occurs in 2-4 weeks and can be monitored from the lowering of alkaline phosphatase, increasing
vitamin D levels and healing on x-rays  but complete reversal of bony deformities may take year
Outline the role of vitamin D and its deficiency in healthy bone development
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OSTEOGENESIS IMPERFECTA
Be aware of different types, inheritance and their clinical presentations
• Osteogenesis imperfecta  also known as brittle bone disease  a group of disorders of collagen metabolism
causing bone fragility, with bowing and frequent fractures  there are many different forms, but 3 which are
more common
• It occurs in roughly 1/20,000 to 1/50,000 live births  it is the leading cause of lethal short limbed dwarfism
• In almost all cases the mode of inheritance is autosomal dominant regardless of the clinical form  an
autosomal recessive form has been identified in some families in South Africa
• Diagnosis is mostly done prenatal but milder forms may not be picked up until much later
• Treatment is complicated  but involves bisphosphonates to reduce the risk of fractures
TYPE I OSTEOGENESIS IMPERFECTA

• Most common form  it is autosomal dominant
• There are fractures during childhood and a blue appearance to the sclerae and some develop hearing loss 
there is usually a dilated aortic root and thin heart valves
• This accounts for 60% of all cases and is the mildest form
• Fractures can occur at any time  with x7 more likely than those without the condition
• There may be hyperboility of the joints and the teeth can be affected
• Treatment for type I is with bisphosphonates, which reduces fracture rates  the prognosis is variable, but
the best of the subtypes  fractures require splinting to minimise joint deformity
TYPE II OSTEOGENESIS IMPERFECTA

• This is the sever and lethal form, with multiple fractures already present before birth  many affected infants
are still born
• Inheritance is variable, but mostly autosomal dominant or due to new mutations
• Scleral discolouration may be minimal
TYPE II OSTEOGENESIS IMPERFECTA

• This is a severely progressive form  the child will have various amounts of immature woven bone
• The child may be born with fractures and, as age increases, there is a noticeable short stature and impaired
dentition
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POLYDACTLY/SYNDACTLY
Know the common associations
• Polydactyly  is where there are more than 5 digits on the hands or feet and occurs in 1 in 1000 
commonly associated syndromes
o Trisomy 13
o Trisomy 21
o Tibial hemimelia
o Ellis-van Creveld syndrome
• Syndactyly  is the fusion of two or more digits and occurs in 1 in 2500  it is also associated with several
syndromes including
o Apert syndrome
o Poland syndrome
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SKELETAL DYSPLASIA
Be aware of pathophysiology of skeletal dysplasia, broad classification, principles of physical and surgical management
• There is a heterogeneous group of conditions (approx. 200) characterised by abnormal growth of bones &
cartilage resulting in abnormal shape and size of the skeleton and disproportion of the long bones, spine &
head
• The pathophysiology is complicated and varies depending on the condition  however, it broadly involves
the growth plate and most commonly the zone of proliferation  this usually results in impaired strength
• They can be classified according to the region of bone involved or by their genotype
ACHONDROPLASIA
• Inheritance is autosomal dominant  but about 50% are new mutations
o Short stature  from marked o Depression of the nasal bridge
shortening of the limbs o Short & broad hangs
o A large head o Marked lumbar lordosis
o Frontal bossing o Hydrocephalus  sometimes occurs
THANATOPHORIC DYSPLASIA
• This results in still birth  the infants have a large head, extremely short limbs and a small chest
• The appearance of the bones on x-ray is characteristic
• The importance of the correct diagnosis of this disorder is that its inheritance is sporadic
• It may be identified on antenatal ultrasound
CLEIDOCRANIAL DYSOSTOSIS
• In this autosomal dominant disorder  there is absence of part or all of the clavicles and delay in closure of
the anterior fontanelle and of ossification of the skull
• The child is often able to bring the shoulder together in front of the chest to touch each other as a ‘party trick’
• Short stature is usually present  intelligence is normal
ARTHROGRYPOSIS
• This is a hetergenous group of congenital disorders in which there is stiffness and contracture of joints
• The cause is usually unknown, but there may be an association with oligohydramnios, widespread congenital
anomalies or chromosomal disorders  it is usually sporadic
• Marked flexion contractures of the knees/elbows/wrists, dislocation of the hips & other joints, talipes
equinovarus and scoliosis are common  but the disorder may be localised to the upper or lower limbs
• The skin in thin  subcutaneous tissue is reduced and there is marked muscle atrophy around the affected
joints  intelligence is usually unaffected
• Management is with physiotherapy and correction of deformities  where possible, by splints, plaster casts
or surgery  walking is impaired in the more sever forms of the disorder
OSTEOPETROSIS
• Also known as ‘stone/marble bone disease’  rare disorder, with bones being dense, but brittle
• The severe autosomal recessive disorder presents with
o FTT o Anaemia
o Recurrent infection o Thrombocytopenia
o Hypocalcaemia
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• Prognosis is poor, but bone marrow transplant is curative  a less severe autosomal dominant form may
present during childhood with fractures
SYSTEMIC LUPUS ERYTHEMATOSIS (SLE)

Outline the epidemiology, clinical features and complications of SLE
• SLE is a complex, multisystem autoimmune disorder affecting adolescents
• It is rare in younger children  female:male is 20:1  commoner and more severe in Afro-Caribbean,
Hispanic and Far Eastern girls
• The ARA criteria are helpful, but less reliable in early disease  SLE is diagnosed if 4 of the 11 features
present simultaneously or serially
o Malar rash
o Discoid rash
o Photosensitivity
o Mouth ulcers
o Arthritis  non-erosive
o Serositis  pleurisy or pericarditis
o Renal disease  persistent proteinuria >0.5g/24hr or cellular casts
o Neurological disorders  psychosis or seizures in absence of known precipitants
o Haematological abnormality  haemolytic anaemia or leucopenia <4x109 on 2 or more occasions or
thrombocytopenia <100x109/L
o Immunological  raised anti-DNA binding antibody, anti-Smith antibody and/or +ve anti-phospholipid
antibodies
o Anti-nuclear antibody
CLINICAL FEATURES
• Non-specific constitutional symptoms o Myalgia
common o Myositis  5%
o Low grade fever o Aseptic necrosis
o Weight loss • Cardiovascular
o Fatigue o Pericarditis
o Anorexia o Myosititis
o Lymphadenopathy o Valvulitis with endocarditis
• Mucocutaneous problems • Pulmonary
o Hair loss o Pleurisy
o Mouth ulcers o Pleural effusion
o Photosensitivty  50% o Haemoptysis from pulmonary
o Raynaud’s phenomenon  90% vascultitis
o Butterfly rash over nose o Intersitial fibrosis
o Discoid lesions o Pneumonitis
o Livido reituclaris • Haematological
o Urticarial rashes o Anaemia
o Purpuric rashes o Leucopenia
o Digital vasculitis o Lymphopenia
• Musculoskeletal o Thrombocytopenia
o Polyarthritis  resembling RA • Neurological
o Tendonitits o Migraine
o Arthralgia o Mood disorders
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o Psychoses
o Seizures
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Specials CP2 Learning Objectives Child Health
SPECIALS - ENT/DERMATOLOGY/OPHTHALMOLOGY
SKIN
Understand the aetiology, pathophysiology, history and presentation, differential diagnosis, basic investigations and
initial management plans for children presenting with eczema
• The prevalence of atopic eczema in children in the UK is about 20%  a genetic deficiency of skin barrier
function is important in the pathogenesis of atopic eczema
• Onset of atopic eczema is usually in the first year of life  uncommon in the first 2 months, unlike infantile
seborrhoeic dermatitis  which is relatively common at this age
• There is often a family history of atopic disorders  around one-third of children with atopic eczema will
develop asthma
o Eczema
o Asthma
o Allergic rhinitis  hay fever
• Exclusive breast-feeding may delay the onset of eczema in predisposed children  but does not appear to
have a significant impact on the prevalence of eczema during later childhood
• Atopic eczema is mainly a disease of childhood  being most severe and troublesome in the first year of life
 resolving in 50% by 12 years of age, and in 75% by 16 years
DIAGNOSIS
• The diagnosis is made clinically  if tested, most affected children have an elevated total plasma IgE level
• If there is a history to suggest a particular allergic cause  skin-prick and radioallergosorbent (RAST) tests
may be helpful  this will also identify food and other allergens which may cause anaphylaxis
• If the disease is unusually severe, atypical or associated with unusual infections or failure
to thrive  an immune deficiency disorder should be excluded
• Immunological changes in atopic disease are probably secondary to enhanced antigen
penetration through a deficient epidermal barrier
CLINICAL FEATURES
• Rashes may itch in many conditions, but in atopic eczema, itching (pruritus) is the main
symptom at all ages  this results in scratching and exacerbation of the rash
• The excoriated areas become erythematous, weeping and crusted  distribution of the
eruption tends to change with age
• Atopic skin is usually dry  prolonged scratching and rubbing of the skin may lead to
lichenification  in which there is accentuation of the normal skin markings
COMPLICATIONS
• Causes of exacerbations of eczema  however, flare-ups are common, often for no obvious reason
o Bacterial infection, e.g. Staphylococcus, Streptococcus spp.
o Viral infection, e.g. herpes simplex virus
o Ingestion of an allergen, e.g. egg
o Contact with an irritant or allergen
o Environment: heat, humidity
o Change or reduction in medication
o Psychological stress
o Unexplained
• Eczematous skin can readily become infected  usually with Staphylococcus or Streptococcus 
inflammation increases the avidity of skin for Staph. aureus and reduces the expression of antimicrobial
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peptides  which are needed to control microbial infections  Staph. aureus thrives on atopic skin and
releases superantigens  which seem to maintain and worsen eczema
• Herpes simplex virus infection, although less frequent  is potentially very serious as it can spread rapidly on
atopic skin  causing an extensive vesicular reaction, eczema herpeticum
• Regional lymphadenopathy is common and often marked in active eczema  it usually resolves when the skin
improves
MANAGEMENT
• A number of treatment modalities are available.
o Avoiding irritants and precipitants
o Emollients
o Topical corticosteroids
o Immunomodulators
o Occlusive bandages
o Antibiotics & antiviral agents
o Dietary elimination
o Psychosocial support
Recognise a herpes simplex rash and know the first line treatment
• Herpes simplex virus (HSV) usually enters the body through the mucous membranes or skin  and the site of
the primary infection may be associated with intense local mucosal damage
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• HSV1 is usually associated with lip and skin lesions  HSV2 with genital lesions  but both viruses can cause
both types of disease
• Treatment is with acyclovir  a viral DNA polymerase inhibitor  which may be used to treat severe
symptomatic skin, ophthalmic, cerebral and systemic infections
• Asymptomatic HSV  very common and are mostly asymptomatic
• Gingivostomatitis  most common form of primary HSV illness in children  it usually occurs from 10
months to 3 years of age  there are vesicular lesions on the lips, gums and anterior surfaces of the tongue
and hard palate, which often progress to extensive, painful ulceration with bleeding  there is a high fever
and the child is very miserable  the illness may persist for up to 2 weeks  dating and drinking are painful,
which may lead to dehydration  management is symptomatic, but severe disease may necessitate
intravenous fluids and aciclovir
• Skin manifestations
• Mucocutaneous junctions and damaged skin are particularly prone to infection  ‘Cold sores’ are recurrent
HSV1 lesions on the gingival (lip) margin
• Eczema herpeticum  serious condition, widespread vesicular lesions develop on eczematous skin  this
may be complicated by secondary bacterial infection  which may result in septicaemia.
• Herpetic whitlows  these are painful, erythematous, oedematous white pustules on the site of broken skin
on the fingers  spread is by auto-inoculation from gingivostomatitis and infected adults kissing their
children’s fingers  in sexually active adolescents, HSV2 may be the cause
• Eye disease may cause a blepharitis or conjunctivitis  it may extend to involve the cornea, producing
dendritic ulceration  this can lead to corneal scarring and ultimately loss of vision  any child with herpetic
lesions near or involving the eye requires ophthalmic investigation of the cornea by slit lamp examination
Recognise impetigo, know its aetiology and its management

• This is a localised, highly contagious, staphylococcal and/or streptococcal skin infection  most common in
infants and young children
• It is more common where there is pre-existing skin disease  e.g. atopic eczema  lesions are usually on the
face, neck and hands and begin as erythematous macules which may become vesicular/pustular or even
bullous
• Rupture of the vesicles with exudation of fluid leads to the characteristic confluent honey-coloured crusted
lesions  infection is readily spread to adjacent areas and other parts of the body by autoinoculation of the
infected exudate
• Topical antibiotics (e.g. mupirocin) are sometimes effective for mild cases  narrow-spectrum systemic
antibiotics (e.g. flucloxacillin) are needed for more severe infections  although more broad-spectrum
antibiotics such as co-amoxiclav or cefaclor have simpler oral administration regimens, taste better and
therefore have better adherence
• Affected children should not go to nursery or school until the lesions are dry  nasal carriage is an important
source of infection which can be eradicated with a nasal cream containing mupirocin or chlorhexidine and
neomycin
Know the cause of Staphylococcal Scalded skin syndrome (SSS), recognise it and know its first line treatment
• This is caused by an exfoliative staphylococcal toxin  which causes separation of the epidermal skin through
the granular cell layers
• It affects infants and young children  who develop fever and malaise may have a purulent, crusting,
localised infection around the eyes, nose and mouth  with subsequent widespread erythema and
tenderness of the skin
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• Areas of epidermis separate on gentle pressure (Nikolsky sign)  leaving denuded areas of skin  which
subsequently dry and heal without scarring
• Management is with an intravenous anti-staphylococcal antibiotic, analgesia and monitoring of fluid balance
Know the causes and the initial treatment of urticaria

• Acute urticaria usually results from exposure to an allergen or a viral infection  which triggers
an urticarial skin reaction
• It may also involve deeper tissues to produce swelling of the lips and soft tissues around the eyes
(angioedema)  even anaphylaxis
• Chronic urticaria (persisting >6 weeks) usually non-allergic in origin  it results from a local increase in the
permeability of capillaries and venules  these changes are dependent on activation of skin mast cells, which
contain a range of mediators including histamine
• Treatment is with second-generation non-sedating antihistamines
• Papular urticaria is a delayed hypersensitivity reaction  most commonly seen on the legs, following a bite
from a flea, bedbug, or animal or bird mite  irritation, vesicles, papules and weals appear and secondary
infection due to scratching is common  it may last for weeks or months and may be recurrent
Recognise a varicella rash
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Recognise acne and know the 1st line treatment

• Acne may begin 1–2 years before the onset of puberty  following androgenic stimulation of the sebaceous
glands and an increased sebum excretion rate  obstruction to the flow of sebum in the sebaceous follicle
initiates the process of acne
• There are a variety of lesions  initially open comedones (blackheads) or closed comedones (whiteheads) 
progressing to papules, pustules, nodules and cysts  lesions occur mainly on the face, back, chest and
shoulders  the more severe cystic and nodular lesions often produce scarring
• Menstruation and emotional stress may be associated with exacerbations  the condition usually resolves in
the late teens, although it may persist
• Topical treatment is directed at encouraging the skin to peel using a keratolytic agent  such as benzoyl
peroxide, applied once or twice daily after washing  sunshine, in moderation, topical antibiotics or topical
retinoids may be helpful
• For more severe acne, oral antibiotic therapy with tetracyclines  only when over 12 years old, because they
may discolour the teeth in younger children or erythromycin is indicated
• The oral retinoid isotretinoin is reserved for severe acne in teenagers unresponsive to other treatments
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Recognise a candida infection and know the 1st line treatment
• Candida infection may cause and often complicates napkin rashes
• The rash is erythematous  includes the skin flexures and there may be satellite lesions
• Treatment is with a topical antifungal agent.
Recognise the rash of erythema multiforme and know some of the causes
• There are target lesions with a central papule surrounded by an
erythematous ring. Lesions may also be vesicular or bullous.
• Causes of erythema multiforme
o Herpes simplex infection
o Mycoplasma pneumoniae infection
o Other infections
o Drug reaction
o Idiopathic
Recognise the rash of erythema nodosum

• Causes of erythema nodosum
o Streptococcal infection
o Primary tuberculosis
o Inflammatory bowel disease
o Drug reaction
o Idiopathic
Recognise symptoms and signs of fungal infections and know about the 1st line treatment
• Dermatophyte fungi invade dead keratinous structures  such as the horny layer of skin, nails and hair
• The term ‘ringworm’ is used because of the often ringed (annular) appearance of skin lesions  a severe
inflammatory pustular ringworm patch is called a kerion
• Tinea capitis (scalp ringworm)  sometimes acquired from dogs and cats  causes scaling and patchy
alopecia with broken hairs
• Examination under filtered ultraviolet (Wood’s) light may show bright greenish/yellow fluorescence of the
infected hairs with some fungal species
• Rapid diagnosis can be made by microscopic examination of skin scrapings for fungal hyphae  definitive
identification of the fungus is by culture
• Treatment of mild infections is with topical antifungal preparations  but more severe infections require
systemic antifungal treatment for several weeks  any animal source of infection also needs to be treated.
Recognise how headlice present and be able to recognise them

• Pediculosis capitis (head lice infestation) is the most common form of lice infestation in children  it is
widespread and troublesome among primary school children
• Presentation may be itching of the scalp and nape or from identifying live lice on the scalp or nits (empty egg
cases) on hairs  louse eggs are cemented to hair close to the scalp and the nits (small whitish oval capsules)
remain attached to the hair shaft as the hair grows
• There may be secondary bacterial infection  often over the nape of the neck, leading to a misdiagnosis of
impetigo
• Sub-occipital lymphadenopathy is common
• Once infestation is confirmed by finding live lice  treatment is by applying a solution of 0.5% malathion to
the hair and leaving it on overnight  the hair is then shampooed and the lice and nits removed with a fine-
tooth comb
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• Treatment should be repeated a week later  Permethrin (1%) as a cream rinse would be an alternative
application  it is left on for 10 min only  flammability of alcohol-based lotions should be noted
• Wet combing to remove live lice (bug-busting) every 3–4 days for at least 2 weeks is a useful and safe
physical treatment  particularly when parents treat with enthusiasm
Recognise psoriatic lesion and know the 1st line management in children
• This familial disorder rarely presents before the age of 2 years  the guttate type is common in children and
often follows a streptococcal or viral sore throat or ear infection
• Lesions are small, raindrop-like, round or oval erythematous scaly patches on the trunk and upper limbs, and
an attack usually resolves over 3–4 months  however, most get a recurrence of psoriasis within the next 3–
5 years
• Chronic psoriasis with plaques or annular lesions is less common  fine pitting of the nails may be seen in
chronic disease but is unusual in children
• Treatment for guttate psoriasis is with bland ointments  coal tar preparations are useful for plaque psoriasis
and scalp involvement  dithranol preparations are very effective in resistant plaque psoriasis  calcipotriol,
a vitamin D analogue, which does not stain the skin, can also be useful for plaque psoriasis in those over 6
years old
• Occasionally, children with chronic psoriasis develop psoriatic arthritis  chronic psoriasis may have a
considerable effect on quality of life
• The Psoriasis Association can be helpful in offering support and advice
Recognise a scabetic rash and know how to treat it

• Scabies is caused by an infestation with the eight-legged mite Sarcoptes scabiei  which burrows down the
epidermis along the stratum corneum  severe itching occurs 2–6 weeks after infestation and is worse in
warm conditions and at night
• In older children, burrows, papules and vesicles involve the skin between the fingers and toes, axillae, flexor
aspects of the wrists, belt line and around the nipples, penis and buttocks  in infants and young children,
the distribution often includes the palms, soles and trunk  the presence of lesions on the soles can be
helpful in making the diagnosis  the head, neck and face can be involved in babies but is uncommon
• Diagnosis is made on clinical grounds with the history of itching and characteristic lesions  although
burrows are considered pathognomonic  they may be hard to identify because of secondary infection due
to scratching
• Itching in other family members is a helpful clinical indicator  confirmation can be made by microscopic
examination of skin scrapings from the lesions to identify mite, eggs and mite faeces
• Complications  the skin becomes excoriated due to scratching and there may be a secondary eczematous or
urticarial reaction masking the true diagnosis  secondary bacterial infection is common, giving crusted,
pustular lesions  sometimes slowly resolving nodular lesions are visible
• As it is spread by close bodily contact, the child and whole family should be treated  whether or not they
have evidence of infestation  permethrin cream (5%) should be applied below the neck to all areas and
washed off after 8–12 hrs  in babies, the face and scalp should be included, avoiding the eyes
• Benzyl benzoate emulsion (25%) applied below the neck only  in diluted form according to age, and left on
for 12 h, is also effective  but smells and has an irritant action
• Malathion lotion (0.5% aqueous) is another effective preparation applied below the neck and left on for 12 h
Recognise ‘cradle cap’ and know how to treat it

• This eruption of unknown cause presents in the first 2 months of life  it starts on the scalp as an
erythematous scaly eruption  the scales form a thick yellow adherent layer, commonly called cradle cap
• The scaly rash may spread to the face, behind the ears and then extend to the flexures and napkin area
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• In contrast to atopic eczema  it is not itchy and the child is unperturbed by it  however, it is associated
with an increased risk of subsequently developing atopic eczema
• Mild cases will resolve with emollients  the scales on the scalp can be cleared with an ointment containing
low-concentration sulphur and salicylic acid applied to the scalp daily for a few hours and then washed off
• Widespread body eruption will clear with a mild topical corticosteroid  either alone or mixed with an
antibacterial and antifungal agent if appropriate
Be able to recognise a wart and know how to treat it

• These are caused by the human papillomavirus  of which there are well over 100 types
• Warts are common in children, usually on the fingers and soles (verrucae)  most disappear spontaneously
over a few months or years and treatment is only indicated if the lesions are painful or are a cosmetic
problem
• They can be difficult to treat  but daily application of a proprietary salicylic acid and lactic acid paint or
glutaraldehyde (10%) lotion can be used
• Cryotherapy with liquid nitrogen is effective treatment but can be painful and often needs repeated
application  its use should be reserved for older children
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ENT
Understand the key features in the history examination and differential diagnosis of children presenting with
adeno/tonsillar hypertrophy
• Tonsillitis is a form of pharyngitis where there is intense inflammation of the tonsils  often with a purulent
exudate
• Common pathogens
o Group A β-haemolytic streptococci  can be cultured from many tonsils  however, it is uncertain
why it causes recurrent tonsillitis in some children but not in others.
o Epstein–Barr virus (infectious mononucleosis)  although the surface exudates seen in infectious
mononucleosis are reported to be more membranous in appearance compared to bacterial tonsillitis
 in reality it is not possible to distinguish clinically between viral and bacterial causes  marked
constitutional disturbance, such as headache, apathy and abdominal pain, white tonsillar exudate and
cervical lymphadenopathy, is more common with bacterial infection
• Antibiotics are often prescribed for severe pharyngitis and tonsillitis even though only a third are caused by
bacteria  often penicillin, or erythromycin if there is penicillin allergy  they may hasten recovery from
streptococcal infection
• In order to eradicate the organism to prevent rheumatic fever,  10 days of treatment is required  but this
is not indicated in the UK where rheumatic fever is now exceedingly rare
• n severe cases, children may require hospital admission for intravenous fluid administration and analgesia if
they are unable to swallow solids or liquids
• Amoxicillin is best avoided as it may cause a widespread maculopapular rash if the tonsillitis is due to
infectious mononucleosis
TONSILLECTOMY AND ADENOIDECTOMY

• Children with recurrent tonsillitis are often referred for removal of their tonsils  one of the commonest
operations performed in children  many children have large tonsils but this in itself is not an indication for
tonsillectomy, as they shrink spontaneously in late childhood
• The indications for tonsillectomy are controversial  must be balanced against the risks of surgery  include:
o Recurrent severe tonsillitis (as opposed to recurrent URTIs)  tonsillectomy reduces the number of
episodes of tonsillitis by a third  e.g. from three to two per year, but is unlikely to benefit mild
symptoms
o A peritonsillar abscess  quinsy
o Obstructive sleep apnoea  the adenoids will also normally be removed
• Like the tonsils  adenoids increase in size until about the age of 8 years and then gradually regress  in
young children, the adenoids grow proportionately faster than the airway  so that their effect of narrowing
the airway lumen is greatest between 2 and 8 years of age  they may narrow the posterior nasal space
sufficiently to justify adenoidectomy
• Indications for the removal of both the tonsils and adenoids are controversial but include:
o Recurrent otitis media with effusion with hearing loss  where it gives a significant long-term
additional benefit  especially if reinsertion of grommets is considered
o Obstructive sleep apnoea  an absolute indication
Know the common causes of epistaxis and its first line management
Know the symptoms and signs of rhinitis and hayfever and how to treat it
• This can be atopic (associated with IgE antibodies to common inhalant allergens) or non-atopic  it is an
underestimated cause of childhood morbidity  it affects up to 20% of children and can severely disrupt their
lives
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• The disease can be classified as intermittent or persistent and mild or severe  although in temperate
climates it is often classified as seasonal (related to seasonal grass, weed or tree pollens) and perennial
(related to perennial allergens such as house-dust mite and pets)
• In addition to its classic presentation of coryza and conjunctivitis  it can also present as ‘cough-
variant rhinitis’ due to a post-nasal drip  and as a chronically blocked nose causing sleep disturbance and
impaired daytime behaviour and concentration  or with predominant eye symptoms
• It is associated with eczema, sinusitis and adenoidal hypertrophy  is closely associated with asthma 
treatment of allergic rhinitis may improve the control of coexistent asthma
• Treatment options are listed
o Second-generation non-sedating antihistamines  used topically or systemically
o Topical corticosteroid nasal or eye preparations  the latter under specialist ophthalmology
supervision
o Cromoglycate eye drops
o Leukotriene receptor antagonists  e.g. montelukast
o Nasal decongestants  use for no more than 7–10 days due to risk of rebound effect
o Allergen immunotherapy  sublingual or subcutaneous  limited by anaphylaxis risk
o Systemic corticosteroids should not be used due to the risk of adverse effects
Know the key features in the history and examination and the common causes of obstructive sleep apnoea (OSA)
• Up to 12% of pre-pubertal school children snore  estimates of the prevalence of obstructive sleep apnoea
(OSA) resulting in gas-exchange abnormalities range from 0.7 to 3%
• Key aspects of the history include
o Loud snoring
o Witnessed pauses in breathing  apnoeas
o Restlessness
o Disturbed sleep
• Affected children may be obese  although others may have growth failure
• Important consequences of obstructive sleep apnoea include
o Excessive daytime sleepiness,
o Learning and behaviour problems
o Acute life-threatening cardiorespiratory events
o Pulmonary hypertension
• In childhood, it is usually due to upper airway obstruction  secondary to adenotonsillar hypertrophy
• Predisposing causes of sleep-disordered breathing are hypotonia, muscle weakness and anatomical problems
 e.g. Down syndrome, achondroplasia, neuromuscular disease, cerebral palsy or craniofacial abnormalities
 such high-risk groups may warrant screening on a regular basis
• The most basic assessment is overnight pulse oximetry  which can be performed in the child’s home  the
frequency and severity of periods of desaturation (sats <92%) can be quantified  normal oximetry does not
exclude the condition
• Limited polysomnography is required in more complex cases  it includes monitoring of heart rate,
respiratory effort, airflow, a measure of arterial pCO2and video recording  it provides more information
about gas exchange and can distinguish between central and obstructive events
• Sometimes EEG, electrooculogram and submental EMG is needed to assess neurological arousals and sleep
staging
• In cases due to adenotonsillar hypertrophy  adenotonsillectomy is usually curative  overnight oximetry
should be performed prior to surgery for obstructive sleep apnoea to identify severe hypoxaemia  which
may increase the risk of perioperative complications
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• If it persists despite adenotonsillectomy  polysomnography should be performed in a specialist centre 
nasal or facemask continuous positive pressure ventilation (CPAP) or bi-level positive airway pressure (BIPAP)
may be required at night
• Congenital central hypoventilation syndrome is a rare congenital condition caused by gene mutations
resulting in disordered central control of breathing  in severe cases, life-threatening hypoventilation occurs
during sleep, which may result in death in infancy  long-term ventilation, either continuous or during sleep
only, is the mainstay of treatment
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VISUAL IMPAIRMENT
Understand the common causes of blindness
• This affects 1 in 1000 live births in the UK  but is higher in developing countries
• Risk factors
o A family history of severe visual impairment
o Extreme prematurity
• In developed countries, about 50% of severe visual impairment is genetic  in developing countries acquired
causes are more prevalent  eg. infection
• When visual impairment is of cortical origin, resulting from cerebral damage  examination of the eye may
be normal  including the pupillary responses
• Although few causes of severe visual impairment can be cured  early detection is important, as certain
elements may require treatment and much can be done to help the child and parents
• Parents of a partially sighted or severely visually impaired child need appropriate advice on how to provide
non-visual stimulation using speech and touch, on providing a safe home environment and on how to build
the child’s confidence
• In the UK, advice is usually provided by peripatetic teachers for children with visual impairment  the
teachers provide input at both preschool and school ages
• Partially sighted children may be able to attend a mainstream school  but require special assistance with
low vision aids  which include filtered lenses, high-powered magnifiers and small telescopic devices and
computers
• Severely visually impaired children may need special schooling  some will need to be taught Braille to
enable them to read  while many severely visually impaired children have a visual disability alone, at least
half have additional neurodevelopmental problems
CAUSES
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EYES
Be able to recognise conjunctivitis and know the common causes and treatments for them
Recognise periorbital cellulitis and its management

• In periorbital cellulitis there is  almost always unilateral
o Fever
o Erythema
o Tenderness
o Oedema of the eyelid
• In young, unimmunised children it may also be caused by Haemophilus influenzae type b  which may also
be accompanied by infection at other sites  e.g. meningitis  it may follow local trauma to the skin
• In older children, it may spread from a paranasal sinus infection or dental abscess
• Periorbitalcellulitis should be treated promptly with intravenous antibiotics to prevent posterior spread of the
infection to become an orbital cellulitis
• In orbital cellulitis  there is proptosis, painful or limited ocular movement and reduced visual acuity  it
may be complicated by abscess formation, meningitis or cavernous sinus thrombosis
• Where orbital cellulitis is suspected  a CT scan should be performed to assess the posterior spread of
infection and a lumbar puncture may be required to exclude meningitis
Recognise a stye
Be able to recognise a squint, know the common causes and understand the risk of amblyopia
• A squint is a common condition  where there is misalignment of the visual axes
• The history may be helpful as squints are often intermittent  the parents are usually correct if they report
deviation of the eyes  there may be a history of squint in the family
• Newborn babies usually have transient misalignments up to 3 months of age  in some infants and young
children, marked epicanthic folds may give an appearance of a squint
• Any infant with a squint should have red reflexes checked and those persisting beyond 3 months of age
should be referred for a specialist ophthalmological opinion
• A squint is usually caused by failure to develop binocular vision  due to refractive errors  but cataracts,
retinoblastoma and other intraocular causes must be excluded
• Squints are commonly divided into:
o Concomitant (non-paralytic, common)  usually due to a refractive error in one or both eyes, which
is often treated by correction with glasses but may require surgery  these squints are particularly
common in children with neurodevelopmental delay  the squinting eye most often turns inwards
(convergent), but there can be outward (divergent) or, rarely, vertical deviation
o Paralytic (rare)  varies with gaze direction due to paralysis of the motor nerves  his can be sinister
because of the possibility of an underlying space-occupying lesion  such as a brain tumour
CORNEAL LIGHT REFLEX TEST

• For the non-specialist, the light reflex test is used to detect squints
• It is easiest to use a pen-torch held at a distance to produce reflections on both corneas simultaneously
• The light reflection should appear in the same position in the two pupils
• If it does not, a squint is present  however, a minor squintmay be difficult to detect
COVER TEST
• When a squint is present and the fixing eye is covered  the squinting eye moves to take up fixation
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• The child’s interest can be attracted with a toy or light  the test should be performed with the object near
(33 cm) and distant (at least 6 m), as certain squints are present only at one distance  occlusion should be
with a card or plastic occlude
• These tests are difficult to perform and reliable results are best obtained by an orthoptist or ophthalmologist
AMBLYOPIA
• This is a potentially permanent loss of visual acuity in an eye that has not received a clear image  it affects
2–3% of children
• In most cases, it affects one eye  rarely, both are involved
• Any interference with visual development may cause amblyopia  such as refractive errors, squint or visual
deprivation  e.g. ptosis or cataract
• Treatment is by relieving deprivation and correction of any refractive error with glasses, together with
patching of the ‘good’ eye for specific periods of the day to force the ‘lazy’ eye to work and therefore develop
better vision  it is continued until the vision in the ‘lazy’ eye no longer improves
• The longer treatment is delayed, the less likely it is that normal vision will be obtained  early treatment is
essential, as after 7 years of age improvement is unlikely
• Considerable encouragement and support often needs to be given to both the child and parents  as young
children usually dislike having their eye patched, particularly if vision in the unpatched eye is poor
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DEAFNESS
Understand the common causes of deafness
• Any concern about hearing impairment should be taken seriously  any child with delayed language or
speech, learning difficulties or behavioural problems should have their hearing tested  as a mild hearing loss
may be the underlying cause without parents or other carers realising it
• Hearing loss may be:
o Sensorineural  caused by a lesion in the cochlea or auditory nerve and is usually present at birth
o Conductive  from abnormalities of the ear canal or the middle ear  most often from otitis media
with effusion.
SENSORINEURAL HEARING LOSS

• This type of hearing loss is uncommon  1 in 1000 of all live births  1 in 100 in extremely low birthweight
infants
• It is usually present at birth or develops in the first few months of life  it is irreversible and can be of any
severity  including profound
• The child with severe bilateral sensorineural hearing impairment will need early amplification with hearing
aids for optimal speech and language development
• Hearing aid use requires close supervision  beginning in the home together with the parents and continuing
into school  children often resist wearing hearing aids because background noise can be amplified
unpleasantly  cochlear implants may be required where hearing aids give insufficient amplification
• Many children with moderate hearing impairment can be educated within the mainstream school system or
in partial hearing units attached to mainstream schools  children with hearing impairment should be placed
in the front of the classroom so that they can readily see the teacher
• Gesture, visual context and lip movement will also allow children to develop language concepts  speech
may be delayed, but with appropriate therapy can be of good quality
• Modified and simplified signing can be helpful for children who are both hearing-impaired and learning-
disabled  such as Makaton
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• Specialist teaching and support in preschool and school years is provided by peripatetic teachers for children
with hearing impairment  those with profound hearing impairment may need to attend a school for
children who are deaf
CONDUCTIVE HEARING LOSS

• Conductive hearing loss from middle ear disease is usually mild or moderate  but may be severe
• It is much more common than sensorineural hearing loss
• In association with upper respiratory tract infections  many children have episodes of hearing loss which are
usually self-limiting
• In some cases of chronic otitis media with effusion  the hearing loss may last many months or years
• In most affected children, there are no identifiable risk factors present  but children with Down syndrome,
cleft palate and atopy are particularly prone to hearing loss from middle ear disease
Understand the causes and complications of glue ear and its first line treatment
• Recurrent ear infections can lead to otitis media with effusion  OME or glue ear or serous otitis media 
children are asymptomatic apart from possible decreased hearing
• The eardrum is seen to be dull and retracted  often with a fluid level visible
• Confirmation of otitis media with effusion can be gained by a flat trace on tympanometry  in conjunction
with evidence of a conductive loss on pure tone audiometry (possible if >4 years old)  or reduced hearing
on a distraction hearing test in younger children
• Otitis media with effusion is very common between the ages of 2 and 7 years  with peak incidence between
2.5 and 5 years  this condition usually resolves spontaneously
• Cochrane reviews have shown no evidence of long-term benefit from the use of antibiotics, steroids or
decongestants
• Otitis media with effusion is the most common cause of conductive hearing loss in children and can interfere
with normal speech development  result in learning difficulties in school  in such children insertion of
ventilation tubes (grommets)) can be beneficial  but there is evidence, again from Cochrane reviews, that
adenoidectomy can offer more long-term benefit
• It is believed that the adenoids can harbour organisms within biofilms that contribute to infection spreading
up the Eustachian tube  in addition, grossly hypertrophied adenoids may obstruct and affect the function of
the Eustachian tubes, leading to poor ventilation of the middle ear and subsequent recurrent infections
• In practice, children with recurrent URTIs and chronic glue ear that do not resolve with conservative measures
undergo grommet insertion  if these problems recur after grommet extrusion, reinsertion of grommets
with adjuvant adenoidectomy is usually advocated
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VIRAL EXANTHEMS
Recognise the symptoms and signs of measles
• Health practitioners in the UK need to be aware of measles due to the rise in cases following public anxiety
about the MMR vaccination  as well as it continuing to be a major cause of morbidity and death worldwide
• As with chickenpox and parvovirus  older children and adults tend to have more severe disease than the
very young
• For epidemiological tracking of infection  virological or serological confirmation of clinical cases
of measles should be undertaken by testing either blood or saliva
• There are a number of serious complications which can occur in previously healthy children:
o Encephalitis  occurs in about 1 in 5000, about 8 days after the onset of the illness  initial
symptoms are headache, lethargy and irritability, proceeding to convulsions and ultimately coma 
mortality is 15%  serious long-term sequelae include seizures, deafness, hemiplegia and severe
learning difficulties, affecting up to 40% of survivors
o Subacute sclerosing panencephalitis (SSPE)  is a rare but devastating illness manifesting, on average,
7 years after measles infection in about 1 in 100 000 cases  most children who develop SSPE had
primary measles infection before 2 years of age  SSPE is caused by a variant of the measles virus
which persists in the central nervous system  the disorder presents with loss of neurological
function, which progresses over several years to dementia and death  the diagnosis is essentially
clinical, supported by finding high levels of measles antibody in both blood and cerebrospinal fluid
and by characteristic EEG abnormalities  since the introduction of measles immunisation, it has
become extremely rare
• In developing countries, where malnutrition and vitamin A deficiency lead to impaired cell-mediated
immunity  measles often follows a protracted course with severe complications
• Impaired cellular immune responses may result in a modified or absent rash, with an increased risk of
dissemination, including giant-cell pneumonia or encephalitis  such as in HIV infection
• Treatment for measles is symptomatic  children who are admitted to hospital should be isolated
• In immunocompromised patients  the antiviral drug ribavirin may be used
• Vitamin A, which may modulate the immune response  should be given in developing countries
• Prevention by immunisation is the most successful strategy for reducing the morbidity and mortality
of measles
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Know of viral exanthems such as parvovirus and rubella
PARVOVIRUS
• Parvovirus B19 causes erythema infectiosum or fifth disease  also called slapped-cheek syndrome
• Infections can occur at any time of the year  although outbreaks are most common during the spring
months
• Transmission is via
o Respiratory secretions from viraemic patients
o Vertical transmission from mother to fetus
o Transfusion of contaminated blood products
• Parvovirus B19 infects the erythroblastoid red cell precursors in the bone marrow
• Parvovirus causes a range of clinical syndromes:
o Asymptomatic infection  common with about 5–10% of preschool children and 65% of adults have
antibodies
o Erythema infectiosum  the most common illness, with a viraemic phase of fever, malaise, headache
and myalgia followed by a characteristic rash a week later on the face (’slapped-cheek’), progressing
to a maculopapular, ‘lace’-like rash on the trunk and limbs  complications are rare in children,
although arthralgia or arthritis is common in adults
o Aplastic crisis  the most serious consequence of parvovirus infection  it occurs in children with
chronic haemolytic anaemias  where there is an increased rate of red cell turnover (e.g. sickle cell
disease or thalassaemia) or in immunodeficient children (e.g. malignancy) who are unable to
produce an antibody response to neutralise the infection
o Foetal disease  transmission of maternal parvovirus infection may lead to foetal hydrops and death
due to severe anaemia  although the majority of infected foetuses will recover
RUBELLA
• Rubella is generally a mild disease in childhood  it occurs in winter and spring  it is an important infection,
as it can cause severe damage to the foetus
• The incubation period is 15–20 days  it is spread by the respiratory route  frequently from a known
contact
• The prodrome is usually mild with a low-grade fever or none at all  the maculopapular rash is often the first
sign of infection, appearing initially on the face and then spreading centrifugally to cover the whole body  it
fades in 3–5 days  unlike in adults, the rash is not itchy
• Lymphadenopathy is prominent  particularly the suboccipital and postauricular nodes
• Complications are rare in childhood but include
o Arthritis
o Encephalitis
o Thrombocytopenia
o Myocarditis
• Clinical differentiation from other viral infections is unreliable  the diagnosis should be confirmed
serologically if there is any risk of exposure of a non-immune pregnant woman
• There is no effective antiviral treatment  prevention therefore lies in immunisation
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VISUAL IMPAIRMENT
Know how to assess for visual impairment and the associated problems
• Covered in other learning objectives
Know the common cause of cataracts

• Congenital cataracts occur when the lens didn’t form properly
• Acquired cataracts are caused by abnormal interactions among the proteins that make up the lens  over
time, these abnormal interactions cause clumping, specks, opacities and/or cloudy areas to form.
• About 25% of the time  congenital cataracts have a genetic cause  may accompany a metabolic,
hormonal or chromosomal abnormality  e.g. Down syndrome
• Another 25% of the time  cataracts are hereditary
• Some possible causes of acquired cataracts are:
o idiopathic (unknown)
o trauma to the eye
o diabetes or another metabolic disease
o steroid use
o omplications from other eye diseases, such as uveitis (inflammation in the eye)
o complications from treatment of other childhood diseases, like rheumatoid arthritis
o radiation therapy after cancer
• Often cataracts are idiopathic  meaning they occur for no identifiable reason.
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Obstetrics CP2 Learning Objectives Obstetrics & Gynaecology
UNDERSTANDING
NORMAL CHILDREN
Know the four domains of development with the major developmental milestones in each
GROSS MOTOR DEVELOPMENT VISION AND FINE MOTOR
HEARING, SPEECH AND LANGUAGE SOCIAL, MOTOR AND BEHAVIOURAL DEVELOPMENT
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Be able to identify if a child is developmentally delayed and appreciate the pattern of normal development
Be able to perform a developmental examination using the Denver II developmental assessment

• The Denver Developmental Screening Test (DDST)  commonly known as the Denver Scale  is a test for
screening cognitive and behavioural problems in preschool children
• The scale reflects what percentage of a certain age group is able to perform a certain task
• In a test to be administered by a paediatrician or other health or social service professional  a subject's
performance against the regular age distribution is noted
• Tasks are grouped into four categories
o Social contact
o Fine motor skill
o Language
o Gross motor skill
• Include items such as smiles spontaneously (performed by 90% of three-month-olds), knocks two building
blocks against each other (90% of 13-month-olds), speaks three words other than "mom" and "dad" (90% of
21-month-olds), or hops on one leg (90% of 5-year-olds)
Understand the influence of environment and genetic potential on a child’s development

• A child’s development represents the interaction of heredity and the environment on the developing brain
• Heredity determines the potential of the child  while the environment influences the extent to which that
potential is achieved
• For optimal development  the environment has to meet the child’s physical and psychological needs 
these vary with age and stage of development:
o Infants are totally physically dependent on their parents and require a limited number of carers to
meet their psychological needs
o Primary school-age children can meet some of their physical needs and cope with many social
relationships
o Adolescents are able to meet most of their physical needs while experiencing increasingly complex
emotional needs
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Know the normal phases of growth and pubertal stages

• In contrast to adults, growth of all body parameters and, later, the development of puberty are key features
of childhood and adolescence  feviation from the norm needs to be recognised and the underlying cause
identified and treated  this requires knowledge concerning normal growth and puberty.
• There are four phases of normal human growth
o Foetal o Childhood phase
o The infantile phase o Pubertal growth spurt
FOETAL
• This is the fastest period of growth  accounting for about 30% of eventual height
• Size at birth is determined by the size of the mother and by placental nutrient supply  which in turn
modulates fetal growth factors  IGF-2, human placental lactogen and insulin
• Optimal placental nutrient supply is dependent on an adequate maternal diet
• Size at birth is largely independent of the father’s height and of growth hormone
• Severe intrauterine growth restriction and extreme prematurity when accompanied by poor
postnatal growth can result in permanent short stature  paradoxically, low birthweight increases the later
metabolic risk of childhood obesity
THE INFANTILE PHASE

• Growth during infancy to around 18 months of age is also largely dependent on adequate nutrition  good
health and normal thyroid function are also necessary  this phase is characterised by a rapid but
decelerating growth rate  accounts for about 15% of eventual height
• By the end of this phase  children have changed from their foetal length, largely determined by the uterine
environment, to their genetically determined height
• An inadequate rate of weight gain during this period is called ‘failure to thrive’
CHILDHOOD PHASE
• This is a slow, steady but prolonged period of growth  contributes 40% of final height
• Pituitary growth hormone (GH) secretion acting to produce insulin-like growth factor 1 (IGF-1) at the
epiphyses is the main determinant of a child’s rate of growth  provided there is adequate nutrition and
good health  thyroid hormone, vitamin D and steroids also affect cartilage cell division and bone formation
• Profound chronic unhappiness can decrease GH secretion and accounts for psychosocial short stature
PUBERTAL GROWTH SPURT

• Sex hormones, mainly testosterone and oestradiol, cause the back to lengthen and boost GH secretion  this
adds 15% to final height
• The same sex steroids cause fusion of the epiphyseal growth plates and a cessation of growth
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• If puberty is early  which is not uncommon in girls  the final height is reduced because of early fusion of
the epiphyses
PUBERTY
• Puberty follows a well defined sequence of changes that may be assigned stages  over the last 20 years, the
mean age at which puberty starts in girls has lowered  however the age at which menarche occurs remains
stable
• In female the signs of puberty:
o Breast development  the first sign usually starting between 8.5 and 12.5 years
o Pubic hair growth and rapid height spurt  almost immediately after breast development
o Menarche  on average it occurs 2.5 years after the start of puberty and signs growth is coming to
an end with only around 5cm height gain remaining.
• In males there is:
o Testicular enlargement to >4ml volume measured using an orchidometer  this is the first sign of
puberty
o Pubic hair growth  follows testicular enlargement usually between 10 and 14 years
o Height spurt  when the testicular volume is 12-15ml after a delay of around 18 months
• Breast development
o BI – prepubertal
o BII – breast bud
o BIII – juvenile smooth contour
o BIV – areola and papilla project above breast
o BV – adult
• Pubic hair changes
o PHI – pre-adolescent (no hair)
o PHII – sparse, pigmented, long, straight, mainly along labia or base of penis
o PHIII – dark, coarser, curlier
o PHIV – filling out towards adult distribution
o PHV – adult in quantity and type with spread to medial thighs in males
• Male genital stages
o GI – preadolescent
o GII – Lengthening of penis
o GIII – Further growth in length and circumference
o GIV – development of glans penis, darkening of scrotal skin
o GV – adult genitalia
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• Menstruation has a wide range of normal variation  the normal cycle length varies between 21 and 45 days.
The length of blood loss varies between 3 and 7 days and the average blood loss per cycle is
Know what and how to measure in order to monitor a child’s growth
• Growth must be measured accurately, with attention to correct technique and accurate plotting of the data:
o Weight  readily and accurately determined with electronic scales but must be performed on a
naked infant or a child dressed only in underclothing as an entire month’s or year’s weight gain can be
represented by a wet nappy or heavy jeans, respectively
o Height  the equipment must be regularly calibrated and maintained  in children over 2 years of
age, the standing height is measured  in children under 2 years, length is measured lying
horizontally using the mother to assist  accurate length measurement in infants can be difficult to
obtain, as the legs need to be held straight and infants often dislike being held still  for this reason,
routine measurement of length in infancy is often omitted from child surveillance  but it should
always be performed whenever there is doubt about an infant’s growth
o Head circumference  the occipitofrontal circumference is a measure of head and hence
brain growth  the maximum of three measurements is used  it is of particular importance in
developmental delay or suspected hydrocephalus
• These measurements should be plotted as a simple dot on an appropriate growth centile chart  standards
for a population should be constructed and updated every generation to allow for the trend towards earlier
puberty and taller adult stature from improved childhood nutrition
• In 2009, the UK adopted the World Health Organization (WHO) new global Child Growth Standards for infants
and children 0–4 years old  the new charts are based on the optimal growth of healthy children totally
breast-fed up to the age of 6 months  these charts allow for the lower weight of totally breast-fed infants
and are therefore less likely to identify some breast-fed babies as underweight and may also allow early
identification of bottle-fed babies gaining weight too rapidly
• Height in a population is normally distributed and the deviation from the mean can be measured as a centile
or standard deviation  the bands on the growth reference charts have been chosen to be two-thirds of a
standard deviation apart and correspond approximately to the 25th, 9th, 2nd and 0.4th centiles below the
mean, and the 75th, 91st, 98th and 99.6th centiles above the mean  the further these centiles lie from the
mean, the more likely it is that a child has a pathological cause for his short or tall stature  for instance,
values below the 0.4th or above the 99.6th centile will occur by chance in only 4 per 1000 children and can be
used as a criterion for referral from primary to specialist care
• A single growth parameter should not be assessed in isolation from the other growth parameters  e.g. a
child’s low weight may be in proportion to the height if short, but abnormal if tall  serial measurements are
used to show the pattern and determine the rate of growth  this is helpful in diagnosing or monitoring
many paediatric conditions
• The WHO charts include an adult height predictor and a BMI centile ready-reckoner
Know the anatomical and physiological differences of antenatal and postnatal circulation
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Know the major conditions resulting from a delay/failure of normal neonatal circulatory adaptation (PDA, PFO)
• This is covered in the neonatal learning objectives
Outline the anatomy and physiology of foetal respiratory system

Understand the changes in physiology to the respiratory system at birth

Understand the implications of delay/failure of respiratory adaptation in a newborn (Transient tachypnoea of the
newborn, RDS in prematurity)
Know the APGAR score
Understand the importance of newborn screening and its purpose

• This is covered in the neonatology learning objectives
Know the screening methods/tests involved and the conditions being checked for in routine newborn screening
Understand the importance and justification of biochemical screening (Guthrie test)

Know the time frame and the conditions being tested for in Guthrie test
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Be able to list the current UK immunisation schedule
• In the newborn the BCG is given to those children at high risk of infection  usually family relatives from
endemic countries or if they are being taken to such countries)
• At 2, 3 and 4 months  the ‘5 in 1’ vaccine is given against
o Diphtheria
o Tetanus
o Pertussis
o H.influenzae type B
o Polio
• The oral live polio vaccine has been replaced by killed vaccine given by injection due to the risk of
transmission to unimmunised people and if immunocompromised
• At 2, 4 and 13 month  the pneumococcal conjugate vaccine (PCV) is given
• At 3 and 4 months  the conjugate meningitis C vaccine is given
• At 12 to 13 months  a booster of Hib is given, Men C and MMR are given
• At 12 to 13 years of age  the HPV vaccine is given to girls
• BCG is no longer given to adolescents
Be aware of the main contraindications to vaccinations

• Following vaccination  there may be swelling and discomfort at the injection site  a mild fever and
malaise are not uncommon
• Some vaccines may be followed by a mild form of the disease 7-10 days later  such as measles and rubella
• More serious reactions may occur but are very rare  including anaphylaxis
• Vaccination should be postponed if the child has an acute illness  however a minor infection without fever
or systemic upset is not a contraindication
• Live vaccines should not be given to children with impaired immune responsiveness  except in children with
HIV infection in whom MMR vaccine can be given
• Children with an allergy to eggs should be immunised with MMR under medical supervision  there is a 10%
failure rate from primary vaccination with MMR at 12-13 months of age  but the proportion of susceptible
school-age children in the UK has been reduced by the introduction of a preschool booster of MMR
Understand the principles of public health in relation to the vaccination program
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• The main principle of the vaccination program is that of herd immunity  immunisation uptake is never 100%
for any disease  either due to personal choice or the inability to have the vaccine  however, if around
90% of the population is vaccinated (percentage varies according to disease) then this is high enough to
prevent an epidemic and high spread rate of the pathogen  hence the vaccination program not only aims to
reduce the morbidity and mortality of these pathogens but also aims to drastically reduce their spread
• Diphtheria  infection causes local disease with membrane formation affecting the nose, pharynx or larynx
or systemic disease with myocarditis and neurological manifestations
• Pertussis  causing whooping cough
• Hib  causes numerous problems
• Polio  most children are asymptomatic but some develop aseptic meningitis and develop paralysis.
• Meningococcal C  reduces the risk of meningitis or sepsis
• Pneumococcal  reduces the incidence of pneumonia
• HPV  used in girls before they are sexually active
Know the main elements of the program (immunisation, health promotion, screening for physical and developmental
problems)
• In the UK the healthy child programme (HCP) was introduced in 2009  spans from pregnancy to 19 years old
 but the main emphasis is on ages 0 to 5
• It offers families a programme of
o Screening tests
o Immunisation
o Developmental reviews  including specific screening at 2 years
o Health promotion
• There is a universal programme as well as a progressive programme for families thought to be more at risk
• Those in the program include infants and children with health or developmental problems, children at
increased risk of obesity or families considered to be high risk  e.g. drug and alcohol use
• Screening
o Newborn  baby check
o 5-8 days  heel prick and Guthrie
o 6-8 weeks  physical exam
o 3 and 4 months  reviews
o 7-9 months  systematic assessment of physical, social and emotional development
o 12-13 months  review
o 2 years  assessment of developmental progress
o 3-5 years  review
o 5 years or before  hearing test, growth assessment and orthoptist
o 5-11 years  share information between school and health services
o 11-16 years  health review
o 16-19 years  sharing of information
• Health promotion  this includes various health advice and information throughout the child’s life 
examples include the birth to five book and the sexual health promotion campaigns
Understand the importance and purpose of child health surveillance and promotion in context of public health
• This scheme is effective as it allows the important information to be given when it is most needed
• It is targeted so avoids wasting money on expensive advertising campaigns
• This information is very useful for parents and children to know and helps reduce the amount of consultations
on such issues
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Know the hips are to be checked for developmental dysplasia/congenital dislocation as part of the newborn screening
• This is covered in the MSK learning objectives
Understand the need for early detection and treatment of congenital cataract in terms of development of the optic
pathways and visual cortex
• Visual development occurs throughout first few years of life  any obstruction to light, especially within the
critical period, will result in minimal stimulation to that optic nerve  since no stimulation occurs then the
fibres do not develop and vision is never gained
• If this cataract is corrected in later life then vision will never develop  therefore it is vital to remove these as
soon as possible to prevent any permanent visual impairment  usually checked by assessing the red reflex
at the neonatal baby check
Know the physiological effects of maternal oestrogen on the newborn (vaginal discharge, gynaecomastia, increased size
of labia majora in baby girls)
Know the normal postural variants and the ages at which they may occur (bow legs, knock knees, flat feet, in-toeing,
out-toeing, toe walking)
BOW LEGS
• The normal toddler has a broad base gait  many children evolve leg alignment with initially a degree of
bowing of the tibiae  causing the knees to be wide apart – best observed while the child is standing with the
feet together
• A pathological cause of bow legs is rickets  check for the presence of other clinical features
• Severe progressive and often unilateral bow legs is a feature of Blount disease  an uncommon conditions
predominantly seen in Afro-Caribbean children  radiographs are characteristics with beaking of the
proximal medial tibial epiphysis
KNOCK-KNEES
• The feet are wide apart when standing with the knees held together
• It is seen in many young children and usually resolves spontaneously
FLAT FEET
• Toddlers learning to walk usually have flat feet due to flatness of the medial longitudinal arch and the
presence of a fat pad which disappears as the child gets older
• An arch can usually be demonstrated on standing on tiptoe or by passively extending the big toe
• Marked flat feet are common in hypermobility
• A fixed flat foot, often painful, presenting in older children  may indicate a congenital tarsal coalition and
requires an orthopaedic opinion
• Symptomatic flat feet are often helpful with footwear advice  occasionally, an arch support may be required
IN-TOEING AND OUT-TOEING

• There are three main causes of in-toeing:
o Metatarsus varus  an adduction deformity of a highly mobile forefoot  this occurs in infants, is
passively correctable, heel is held in the normal position and no treatment is required unless it
persists over 5 years
o Medial tibial torsion  at the lower leg  when the tibia is laterally rotated less than normal in
relation to the femur  this occurs in toddlers, may be associated with bowing of the tibiae and self
corrects within 5 years
o Persistent anteversion of the femoral neck  at the hip  when the femoral neck is twisted forward
more than normal  this presents in childhood, usually self corrects by 8 years, may be associated
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with joint hypermobility, children sit between their feet with the hips fully internally rotated (W
sitting) and most do not require treatment
• Out-toeing is uncommon  but may occur in infants between 6 and 12 months of age  when bilateral it is
often due to lateral rotation of the hips and resolves spontaneously
TOE WALKING
• Common in younger children and may become persistent, usually from habit  can walk normally on request
• This needs to be distinguished from mild cerebral palsy or tightness of the Achilles tendons or inflammatory
arthritis in the foot or ankle
• In older boys Duchenne muscular dystrophy should be excluded
Understand that these usually do not require treatment, but specialist assessment is needed if severe, painful,
persistent or asymmetrical
Have a general knowledge and understanding of the anatomical structures of CNS and their function
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NUTRITION
Understand the nutritional requirements of children of different ages
Age Energy (kcal/kg/24hr) Protein (g/kg/24hr)
0-6 months 115 2.2
6-12 months 95 2.0
1-3 years 95 1.8
4-6 years 90 1.5
7-10 years 75 1.2
Adolescence (Male/Female)
11-14 years 65/55 1.0
15-18 years 60/40 0.8
Understand the varied effects of malnutrition and over nutrition in childhood

• This is covered in the gastroenterology learning objectives
Be able to assess the nutritional status of a child

Know the advantages and disadvantages of breast-feeding

Understand the importance of establishing successful feeding in the early days in context of providing adequate
nutrition and developing adequate relationship with the main carer
• Colostrum rather than milk is produced for the first few days  colostrum differs from mature milk in that the
content of protein and immunoglobulin is much higher
• Volumes are low  but water or formula supplement are not required while the supply of breast milk is being
established
• The first breast-feed should take place as soon as possible after birth  subsequent, frequent suckling is
beneficial as it enhances the secretion of the hormones initiating and promoting lactation
• If this is not done then the breast will cease to produce milk and this cannot be rectified
Understand feeding problems may arise due to medical conditions as well as behavioural difficulties, parental anxiety
and disturbed parent-child interaction
• Medical conditions include a poor suck due to either a cleft palate, lip or other condition which prevents an
adequate seal or from cardiac abnormalities causing breathlessness or allergies/disorders preventing certain
foods (lactose or PKU)
• Later on in life feeding can be difficult due to a whole host of behavioural problems  eg. peer pressure,
eating disorders, anxiety or being ‘fussy’
• Parental anxiety is often a cause for suspected feeding problems when actually everything is going fine  this
commonly occurs with parents who have had their first child and either do not know what to expect or have
not been taught the correct technique and times to feed their child
• If the child-parent relationship is disturbed then the child may receive less food for obvious reasons
Understand that nutritional support of a child involves/requires a multidisciplinary approach
Know the difference between enteral and parenteral nutrition and some available methods used in each (NGT,
Enterostomy, TPN)
• Enteral nutrition is nutrition that is absorbed via the gut  whilst parenteral nutrition is given IV
• With less mature infants  such as preterms  enteral feeds may be needed due to a lack of suck reflex or
ability
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• In very sick or premature children then parenteral nutrition is required  this is usually given through a
central venous catheter inserted peripherally  but these lines can carry a risk of sepsis along with
thrombosis of major veins  extravasation can cause skin damage if given into a peripheral vein
• An enterostomy is where a hole is made through the abdominal wall and into the stomach  this can then be
used for enteral feeding if, for some reason, an NG tube cannot be passed due to obstruction or malformation
 these are also preferred if feeding is needed long term  i.e. in severe disability
Know the timeframe when to introduce solids and how to proceed with weaning
• Solid foods are recommended to be introduced after 6 months of age  although they are often introduced
earlier as parents often consider that their infant is hungry
• It is done gradually  initially with a small quantity of pureed fruit, root vegetables or rice
• If weaning takes place before 6 months of age then wheat, eggs and fish should be avoided  foods high in
salt and sugar should be avoided
• Honey should not be given until 1 year of age because of the risk of infantile botulism
• After 6 months of age breast milk becomes increasingly nutritionally inadequate as a sole feed  as it does
not provide sufficiency energy, vitamins or iron
Understand that breast milk becomes increasingly nutritionally inadequate as a sole feed after 6 months
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CHILD PROTECTION & LEGAL ISSUES

Know the different types of child abuse
• This is covered in the Community Paediatric learning objectives
Know key features and possible presentations of child abuse and nonaccidental injuries
• This is covered in the Community Paediatric learning objectives
Understand the role of a paediatrician in child protection and the need to follow safeguarding guidelines and legal
protocols for management of suspected abuse or non-accidental injury
• Each hospital will have a designated paediatrician who deals with all suspected abuse. They are specially
trained to exam the child for forensic evidence as well as appropriately manage the legal and guideline side of
things.
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THE MULTIDISCIPLINARY TEAM

Understand the purpose and importance of multidisciplinary approach to child health
Be aware of the professionals involved in a multidisciplinary team in community paediatrics and the hospital setting and
their area of expertise
Understand the need for coordination of multidisciplinary care for an individual child/ family and that the needs of these
change with time
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COMMON TESTS/ABNORMALITIES
Know the common causes, clinical features and initial management of anaemia in infants and children
• This is covered in the Haematology learning objectives
Be able to interpret basic FBC, U&E and LFT results

• This is covered in the Haematology learning objectives
Know the main indications and contraindications of LP/CSF analysis

INDICATIONS
• These include
o Suspected meningitis or encephalitis
o Suspected subarachnoid haemorrhage  if CT is normal
o Fiagnosing or ruling out sepsis in the neonatal period as part of a septic screen
• Other indications include
o The diagnostic work up of certain malignancies
o Seizures
o Metabolic disorders
o Other neurological disorders  e.g. MS, GBS
CONTRAINDICATIONS
• There are several serious contraindications to conducting a lumbar puncture  these include
o Cardiorespiratory instability
o Focal neurological signs
o Signs of raised ICP  e.g. coma, high BP, low heart rate or papilloedema
o Coagulopathy
o Thrombocytopenia
o Local infection at the site of the LP
o If it causes an undue delay in starting antibiotics
Know the typical changes in CSF values in meningitis (bacterial, viral, TB)
Type Subtype Appearance White Cells Protein Glucose
Normal Clear 0-5/mm3 0.15-0.4g/l ≥50% of blood
Bacterial Turbif Neutrophils ++ Increased Decreased
Meningitis Viral Clear Lymphocytes + Normal/increased Normal/decreased
TB Turbid/clear/viscous Lymphocytes + Very high Very low
Be able to assess the hydration status of a child, recognise signs and symptoms of dehydration and estimate the fluid
deficit
• The gold standard to assess dehydration is to use the child’s previous weight and compare this to their
existing weight to get a percentage change  however these weights are rarely available and have to be
relatively recent  therefore the percentage dehydration is usually estimated on clinical signs as mild,
moderate or severe
• Now the amount of fluid replacement given for each of these categories seems to vary from source to source
 however the recommendation is
o Mild dehydration is 5% dehydrated
o Moderate dehydration is 10% dehydrated
o Severe dehydration is 15% dehydrated
• From this the following calculation can be used to estimate the deficit
deficit in ml = % dehydration x weight (kg) x 10
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Be able to calculate the maintenance fluids
• Maintenance fluids
o The first 10kg of weight is 100ml/kg/24hr
o The second 10 kg of weight is 50ml/kg/24hr
o The remaining weight is 20ml/kg /24hr
• These figures are only enough to cover normal losses  e.g. urine
• If there are excessive losses  such as a high output stoma or diarrhoea  then this needs to be measured
for fluid volume and then this volume needs adding on top of the maintenance fluids
• For example, if a high output stoma produces 200ml of fluid then 200ml needs adding to the maintenance
figure per 24 hours
• Do not use 0.18% Sodium Chloride and 4% Dextrose
• In most children maintenance fluid can be prescribed as 0.45% Sodium Chloride and 5% Dextrose
• Young children should be prescribed maintenance fluid containing dextrose  as there is an increased risk of
hypoglycaemia
• Potassium may be added to maintenance fluids though the preferred option is ‘pre-made bags’ of 10mmol or
20mmol potassium in 500mls fluid  children’s potassium requirements are usually 1-2mmol/Kg/24hr 
Additional potassium may be required if there are large GI losses
• Potassium should be omitted from fluids if there are concerns regarding oliguria or renal function
• Children with large GI losses may require additional fluid to replace losses on a ml by ml basis (e.g. NG losses)
this is usually prescribed as 0.9% Sodium Chloride with 10mmol Potassium Chloride
• Hydration is assessed clinically  children who are significantly dehydrated may require additional fluid to
correct dehydration slowly over 24 – 48 hour  this is usually given as an isotonic fluid (0.9% Sodium
Chloride)
• Children who present with signs of shock (intravascular volume depletion) are very unwell and it is essential
that the paediatric team be contacted immediately  please remember that hypotension is a late sign of
‘shock’ in childhood  whilst awaiting paediatric assessment a fluid bolus of 10mls/Kg 0.9% Sodium Chloride
may be commenced  further fluid boluses may be necessary following paediatric advice
Understand the difference between Isonatraemic, Hyponatraemic and Hypernatraemic dehydration and the
implications for its clinical presentation and management
• Isonatraemia should be normal for most people who are unwell  therefore there should be not obvious
physical signs in relation to this and the management will just be 0.9% saline to replace normal losses
• Hyponatraemia is noticed when NaCl drops <130 and produces mainly neurological signs  these include
headaches, nausea, vomiting, lethargy, irritability, hyporeflexia, decreased consciousness, seizures and dry
inelastic skin  normally 0.9% saline with 5% dextrose is given to help draw water back into the intravascular
space (that left due to the low salt) and then U&Es are measured every 4-6 hours
• Hypernatraemia may present with jittery movements, increased muscle tone, hyperreflexia, convulsions,
drowsiness or coma  again normal 0.9% saline with or without 5% dextrose should be given but the deficit
should be replaced over 48 hours (if possible), aiming for a fall in sodium of <0.5mmol/L/hour  rapid
correction can lead to cerebral oedema, convulsion and death  U&Es should be repeated every 4 hours and
KCl should be added to 500ml IV fluid after urine has been passed and hyperkalaemia excluded
Know the indication for and limitations of EEG

• An EEG measures brain electrical activity through many electrodes placed onto the scalp  it is usually
indicated when epilepsy is suspected (to diagnose the type of epilepsy or rule out this diagnosis) but can also
be used to differentiate organic conditions (e.g. encephalopathy) from psychiatric symptoms (e.g. catatonia).
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• It can generally be used to notice any change in brain activity  such as a space occupying lesion, as well as
to locate brain death
• EEGs can also be used in sleep studies or in surgery to measure the level of consciousness
• Its major limitation is the poor spatial resolution that is achieved  this is further distorted by the CSF and
meninges which blur the signal
• The other significant limitation is that the results are usually useless unless an actual ‘event’ is recorded on
EEG
Understand the basic principles of EEG

• The electrodes pick up electrical activity of the brain in the general area of the electrode  there are 5 main
waves to know about
o Delta – 4hz o Beta - >13-30hz
o Theta – 4-8hz o Gamma – 30-100+hz
o Alpha – 8-13hz
Be aware of some characteristic EEG traces (typical absence seizures, infantile spasms)
NORMAL EEG
ABSENCE SEIZURE
• There is a three per second spike and wave discharge  which is bilaterally synchronous during and
sometimes between attacks  more specifically there are 3hz spike and wave complexes
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INFANTILE SPASM
• West syndrome (infantile spasms)  EEG shows hypsarrhythmia  chaotic pattern of high voltage slow
waves and multi-focal sharp wave discharges
Understand the differences in underlying physics between CT, MRI, Cranial USS
• CT is radiation
• MRI uses magnetic polarity
• US uses sound waves
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Understand the limitations/risks and know some examples of indications for CT, MRI, Cranial USS
• MRI does not have any real risks except if the patient has metal in them or if it significantly delays treatment
• CT scan gives high dose radiation  so should be used with caution, especially in children
• Ultrasound has no documented risks
• MRI is much better at differentiating types of soft tissue than CT whilst a CT scan is much better for bony
structures  with MRI there is a time issue when recording images that doesn’t occur with CT  but this is
rarely a problem
• Ultrasound is useful as a quick and safe investigation for routine screening or bedside testing  it can be used
for checking for structural abnormalities as well as helping guide many procedures  however the resolution
is much poorer than MRI or CT
Understand that detailed clinical history is essential in order to diagnose allergy

• This is covered in the Gastroenterology learning objectives
Know the available methods used to aid if diagnosis of allergy is unclear and their differences (skin prick test,
serologiacal testing, provocation tests)
• A skin prick test is where a solution of the suspected allergens is placed onto the skin and then a small prick
(not piercing the entire skin thickness) is made and left for 10 minutes  a significant response to any of the
allergens helps to diagnose a specific allergy
• Serological testing is used to look at the IgE found in the blood  specific antibodies to types of allergen can
be measured and this is another indicator of whether a patient is allergic to something
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• Provocation testing is where the allergen is introduced to a patient in a controlled environment with
resuscitation equipment available  this is used to assess the severity of a reaction as well as if the child is
actually allergic to the reported allergen
Understand the principle of muscle biopsy and its relevance in diagnoses of myopathy and/or tumours of the muscle
tissue
• A muscle biopsy can be diagnostically useful in many situations when the muscle architecture is disrupted or
altered  this is particularly relevant in
o Myopathies
o Muscular dystrophies
o Muscular cancers
• A hollow needle is generally used (can be done as an open procedure) and is inserted into the muscle where a
biopsy is then taken
• If a specific site is needed then ultrasound guidance may be helpful  this can be carried out under a general
anaesthetic and pain relief is given for afterwards
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INHERITANCE & GENETIC SCREENING

Know the main genetic principles of inheritance
• This is covered in the Inheritance and Genetics learning objectives
Understand the aims of genetic counselling, be aware of the topics that this needs to cover
• This is covered in the Inheritance and Genetics learning objectives
Be aware of the possible antenatal genetic screening practices for trisomy 21 and its consequences (false positives and
negatives)
• Trisomy 21 can be screened for antenatally in a number of ways which have previously been explained
• Genetic sampling via chorionic villus or amniocentesis can be done to assess the genetic material for trisomy
21  this is a fairly conclusive test
• Other tests involve antenatal ultrasound to look for certain features  but this is less diagnostic
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HEALTH PROMOTION & ACCIDENT PREVENTION

Understand the importance of health promotion in childhood and adolescence for an individual
• This is covered in earlier learning objectives
Understand the principles of public health in relation to health promotion and accident prevention
• This is covered in earlier learning objectives
Know the main areas of health promotion for children of different ages and adolescents
• Health promotions
o Newborn  birth to five book, prevention of SIDS
o Baby review 14 days  feeding, promoting development and home safety
o 6-8 weeks  nutrition, immunisation, sleep problems, passive smoking
o 4 months  weaning information for 6 months
o 7-9 months  prevention of choking, scolds, burns, safety gates, nutrition, dental care and sunburn
o 12-13 months  dental health
o 2 years  obesity prevention and injury prevention
o 3-5 years  health promotion
o 11-16 years  sexual health and promote healthy weight
o 16-19  sexual health, physical activity, support
• Health promotion is particularly important in the adolescent age group as this age group becomes more
receptive to advice and can act on it themselves without parental involvement  this is a crucial period as it is
when teenagers begin health-risk behaviours which can have a direct impact on later life
• The main areas for health promotion here are
o Health risk behaviours  sex, drugs, alcohol, smoking
o Mental health
o Violent behaviour
o Physical activity
o Nutrition
o Obesity
o Parent-adolescent communication
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LOOKED AFTER & VULNERABLE CHILDREN

Understand the need for multidisciplinary support of these children and their families
Know possible family/environmental risk factors for child abuse

• Risk factors
o In the child  failure to meet parental expectations and aspirations  e.g. wrong gender  resulted
from forced, coercive or commercial sex
o Parent/carer  mental health problems, parental indifference or intolerance or over-anxiousness,
alcohol, drug abuse
o In the family  step parent, domestic violence, multiple closely spaced births, social isolation or
perceived lack of support, young parental age
o Environment  poverty, poor housing, unsavoury neighbourhood
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EFFECTS OF CHEMO-/RADIOTHERAPY
Know the possible short-term and long-term side-effects of chemotherapy and radiotherapy in children and adolescents
• Chemotherapy is primarily used
o As a curative treatment
o To control primary or metastatic disease before surgery
o As an adjuvant treatment to deal with residual disease
• Radiotherapy has a role in targeting certain tumours  but this risk of damage to growth and function of
normal tissue is greater in children than in adults
• The limitation of both of these treatments is the risk of irreversible damage to normal tissue  particularly
bone marrow sometimes a bone marrow transplant may be required after particularly intensive treatment
• Cancer treatment produces frequent, predictable and often severe multisystem side-effects  these include
o Bone marrow suppression  anaemia, thrombocytopenia, bleeding and neutropenia
o Immunosuppression  infection
o Gut mucosal damage  infection and under nutrition
o Nausea and vomiting  under nutrition
o Anorexia  under nutrition
o Alopecia
• Supportive care is an important part of management and improvements in this aspect of cancer care have
contributed to the increased survival rate
• Due to both treatment and underlying disease the child often is immunocompromised and at risk of serious
infection  children with fever and neutropenia need to be admitted promptly for hospital cultures and
treatment with broad spectrum antibiotics  omportant associated infections include
o Penumocytis jiroveci pneumonia
o Disseminated fungal infection
o Coagulase negative staphylococcal infections
• Most common viral infections are no worse in children with cancer than in other children  but measles and
varicella zoster may have atypical presentation and can be life threatening  Aciclovir can be used to treat
these viral infections
• During chemotherapy and for 6-12 months after there should be an avoidance of live vaccines  after this
period reimmunisation against childhood infections is recommended
• Anaemia may require blood transfusion
• Thrombocytopenia presents the hazard of bleeding  considerable blood product support may be required,
particularly for children with leukaemia  those undergoing intensive therapy requiring bone marrow
transplantations and in the more intensive solid tumour protocols
• Mouth ulcers are common, painful and, when severe can prevent a child from eating adequately  many
chemotherapy agents are nauseating and induce vomiting  which may only be partially prevented by the
routine use of anti-emetics  these two complications can result in significant nutritional compromise
• Chemotherapy induced gut mucosal damage also causes diarrhoea and may predispose to gram-negative
infection
• Many individual drugs have specific side effects and the extent of these is not always predictable so patients
require careful monitoring during after treatment is complete
• Some patient may be at risk of infertility as a result of their cancer treatment  appropriate fertility
preservation techniques may involve surgically moving a testis or ovary out of the radiotherapy field, sperm
banking and consideration of newer techniques such as cryopreservation of ovarian cortical tissue 
although the long-term efficacy of this is still uncertain
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• The psychological impact that cancer and its treatment can have on a child, as well as the whole family is
extensive  most will benefit from counselling and practical support provided by health professions  help
with practical issues including accommodation, finance and travel can be useful and is an early priority
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PALLIATIVE CARE
Understand the concept of a palliative care and the need for multidisciplinary approach
• When a child relapses  further treatment may be considered
• A reasonable number can still be cured and others may have a further significant remission with good-quality
life  however, for some children, a time comes when death is inevitable and the staff and family must make
the decision to concentrate on palliative care
• Most parents prefer to care for their terminally ill child at home  but will need practical help and emotional
support
• Pain control and symptom relief are a serious source of anxiety for parents  but they can often be achieved
successfully at home
• Health professionals with experience in palliative care for children work together with the family and local
healthcare workers
• After the child’s death  families should be offered continuing contact with an appropriate member of the
team who looked after their child, and be give support through their bereavement
Be aware of the available resources for palliative care of children
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REFUGEES & ETHNIC MINORITIES

Understand the possible need for additional medical and psychosocial support of such children and families (be able to
consider immunisation status, infectious diseases, antenatal care etc.)
Appreciate the principles of public health in relation to this topic
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THE FAMILY UNIT

Understand the possible impacts of parental and family mental health issues on a child’s health and development
Understand the vulnerability and need for multidisciplinary support of such children and families
Understand the importance of family in terms of children’s developmental needs
Understand the impact of parenting capacity as well as family environmental factors on child’s health and development
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PRINCIPLES OF AUDIT, RESEARCH & EVIDENCE BASED MEDICINE AS THEY APPLY TO CHILD
HEALTH
Understand the general principles of evidence based medicine and its relevance to clinical practice
Understand the development and application of Evidenced Based Clinical Guidelines, e.g. NICE clinical guidelines
Understand the importance of Clinical Audit in the field of Child Health. Understand the aims and processes of Quality
Improvement
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PRINCIPLES OF CLINICAL GOVERNANCE, PATIENT SAFETY, BEST PRACTICE IN CHILD HEALTH

Understand the general principles of Clinical Governance and its relevance to clinical practice
Understand the general principles of Patient Safety and its relevance to clinical practice
Understand the general principles of Best Practice and its relevance to clinical practice
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CLINICAL SKILLS
CLINICAL EXAMINATION
• Take a structured history from a child of any age or their parent/carer
• Perform a structured systems based examination (to include the CVS, respiratory, abdominal, central nervous
and peripheral nervous systems, skin) on a child of any age
• Recognise important clinical signs and relate these to the presentation
• Take a structured history from a parent with regard to developmental problems i.e. gross motor, fine motor,
vision, hearing, speech and language and social development
• Perform a developmental assessment for their MACCS
• Observe a formal developmental assessment – either Denver, schedule of growing years or Griffiths
• Take a history from a parent with regard to their pregnancy
• Perform a structured examination of a newborn
• Be able to demonstrate measurement of the head circumference of an infant
• Take a structured history from a child or parent with regard to bones and joints
• Perform a structured examination of the musculo-skeletal system using the pGALS assessment tool
• Take a structured history from a child or parent with regard to ENT
• Perform a structured examination of the ears, nose and throat
• Demonstrate use of an otoscope
• Demonstrate the use of a tongue depressor
• Demonstrate a structured approach to a sick child
• To be able to describe the immediate management of common paediatric conditions such as severe asthma,
croup, anaphylaxis, seizures, sepsis, DKA and severe dehydration
• Become confident and safe in handling infants, gently and firmly
• To describe and observe a neonatal hip examination in terms of Ortalani and Barlow tests
• To be able to make a powdered milk feed using the directions given
• To demonstrate the safe administration of milk to a baby, and wind them afterward
• To be able to demonstrate the changing of a nappy
• Carry out pubertal assessment
• Be aware of gestational assessment scores
• To observe the visual assessment for squint using the cover test
• To observe the hearing assessment using the distraction hearing test
COMPETENT PROVISION OF BASIC LIFE SUPPORT (BLS)

• Demonstrate a structured approach to a sick child of any age to include safety, shouting for help, airway,
breathing and circulation assessment
• Demonstrate basic life support of an infant and child focusing on airway, breathing and circulation
• Demonstrate assessment of the conscious level using the AVPU system
• To list the components of the Glasgow Coma Scale
ASSESS NUTRITION, HYDRATION & GROWTH STATUS

• Take a history from a patient with regard to their food and fluid intake and fluid output
• Be able to calculate a child’s percentage weight loss
• To demonstrate the measurement of capillary refill time and blood pressure
• To demonstrate the assessment of skin turgor and other signs of dehydration
• Be able to calculate the daily fluid requirement for children of different ages
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• Be able to calculate a fluid deficit in terms of percentage weight loss
• Be able to measure weight and height children of different ages and plot these on the appropriate growth
chart
• To be able to identify children who have faltering growth
• To be able to identify children with excessive growth
• To be able to describe reasons for faltering growth by comparing the history, examination and growth chart
• To calculate growth velocity and be aware of centile charts
• To be able to calculate BMI using formula weight(kg) / (height (cm) x height (cm))
• To be aware of BMI centile charts.
USE OF CLINICAL EQUIPMENT

• Be able to select a correct spacer device to fit with a metered dose inhaler
• Be able to communicate with a parent and child the indications for use
• Be able to demonstrate the actuation of the metered dose inhaler
• Be able to communicate with a patient or parent the correct breathing technique with an inhaler/spacer
• To demonstrate the use of an underarm thermometer
• To demonstrate the use of a tympanic thermometer
• Describe the methods of urine collection
• Perform and interpret urinalysis both manually and using the machine
• Select and apply an appropriate saturation probe for measuring oxygen saturations
• Interpret the monitor readings of an oxygen saturation monitor
• To be able to demonstrate to a child or parent the indications for using a peak flow meter and how to do this
correctly
• To be able to interpret the results of a peak flow meter
• To explain to a child/parent the indications for nebulised medication
• To be able to correctly assemble a nebuliser circuit and select an appropriate flow rate of oxygen
• To be able to explain the importance of changing injection sites for insulin
• To be able to dispose of sharps safely
• Using a training device and be able to safely administer the Epipen intramuscularly (on themselves/each
other)
• To observe the use of a lancet to obtain capillary blood for glucose testing
INTERPRETATION OF COMMON TESTS

• Be able to describe the indications, and interpret results for full blood count, urea & electrolytes, liver
function tests, CRP, coagulation screen
• Be able to describe the indications, and interpret results for microscopy and culture on samples of blood,
urine and CSF
• To describe the indication for a mantoux test and interpret this
• To describe the radiological features of rickets
INTERPRETATION OF CXR
• Be able to describe the indications for a chest X-ray
• Be able to describe common features and abnormalities on a chest X-ray
• Be able to recognise common pathologies e.g. infection, RDS, congenital heart disease on a chest x-ray
PRINCIPLES OF SAFE DRUG PRESCRIBING & ADMINISTRATION (ORAL & IV)

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• Be able to safely prescribe common paediatric drugs, calculating the dose in mg/kg or appropriate units using
a formulary
• To be able to calculate the volume of a liquid drug to get the correct dose and draw it up in an oral syringe
and administer
• To demonstrate handwashing and describe the five moments to handwash
• To demonstrate correct use of personal protective items (gloves/aprons)
COMMON TESTS
• To be able to describe the correct positioning of the leads on a 12 lead ECG machine
• To assess the ECG in terms of rate, rhythm, PR interval, QRS complex, QTc interval and for axis deviation
• To be able to recognise common rhythms – SVT, bradycardia, VT, VF, PEA, asystole and Prolonged QT
syndrome
• To describe the indications for an abdominal X-ray
• To describe the common features of an abdominal X-ray
• To describe the indications for a limb X-ray
• To be able to identify fractures of long bones on x-ray
NEONATAL RESUSCITATION
• To observe the structured approach to a newborn requiring resuscitation.
OBSERVE PROCEDURES
• To observe the correct monitoring of patients undergoing anaesthesia
• To observe the insertion of endotracheal tubes and laryngeal mask airways
• To attend paediatric theatre and demonstrate the ability to correctly hand wash, gown and glove up
• To observe a technician or clinician perform an echocardiogram
• To attend and observe the procedures associated with a child protection case conference
• To attend and observe the chairing of a multi-disciplinary team meeting
CLINICAL PROCEDURES
• Observe the use of topical analgesia before venous cannulation
• Observe the selection of device and insertion technique for cannulation and venepuncture
• To describe indications and contra-indications for lumbar puncture
• To describe the landmarks necessary to identify for successful lumbar puncture
• To observe correct positioning and holding for the lumbar puncture
• To observe aseptic techinique for lumbar puncture
• To describe the indications for suprapubic aspiration (SPA) and catheter urine sampling
• To describe the land marks of suprapubic aspiration
• To observe an SPA and insertion of urinary catheter
• To describe the indications for a bag urine specimen
• Observe the cleaning of the perineal region and application of a urinary bag
• To describe the safe insertion of a tongue depressor in order to obtain a throat swab
• To observe the use of a capillary lancet to obtain blood from the finger or heel
• Learn how to write up a history and examination, differential diagnosis, and plans for investigation and
treatment
• Learn how to write a handover note, and use “SBAR” verbally
• Learn how to write a discharge summary
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Gynaecology CP2 Learning Objectives Obstetrics & Gynaecology
OBSTETRICS & GYNAECOLOGY LEARNING OBJECTIVES

GYNAECOLOGY
HISTORY AND EXAMINATION IN GYNAECOLOGY
HISTORY
• Personal details  name, age and occupation
• Presenting complain
o How long?
o How much does it affect you?
o Pain  SOCRATES
o Has this happened before?
• Menstrual questions
o How often does she menstruate? o Intermenstrual bleeding
o How long does it last? o Post-coital bleeding
o Regular or irregular? o Any vaginal discharge? If so describe it
o Heavy or light?  how many pads? o Premenstrual tension?
Clots? o Last menstrual period (LMP)?
o Associated pain o Post-menopausal bleeding?
• Sexual/contraceptive questions
o Is she sexually active?
o Is there any pain associated with sex?
▪ If so, is it on penetration?  superficial
▪ If so, is it deep inside?  deep
▪ If so, is it during and/or after
o What contraception is she on? Past?
• Cervical smear
o Last cervical smear?  every 3yrs 25-49, then 5yrs 50-64
o Has she ever had an abnormal smear?
o If so, was anything done?
• Urinary/prolapse questions
o Does she experience
▪ Frequency ▪ Urgency
▪ Nocturia ▪ Enuresis
o Does she ever leak urine?
▪ If so, how severe?
▪ Associations  laughing, coughing, urgency
o Is there any associated pain or blood?
o Dragging sensation?
o Feeling of mass in or at the vagina?
• Past obstetric history  has she ever been pregnancy
o Details of previous pregnancies in chronological order
o Delivery details
o Weight details
o How is the infant now?
o Major complications in pregnancy/labour
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• Past medical history
o Gynaecological history
o Surgery
o DVT/PE or HTN
• Systems review  urinary or GI symptoms
• Drugs  any regular medication
• Family history
o Breast or ovarian CA
o Diabetes
o VTE
o Heart disease or HTN
• Personal/social history
o Smoking
o Alcohol
o Relationship and support at home
o Accommodation
• Allergies  penicillin or latex
EXAMINATION
• General examination
o Appearance and weight
o Temperature, BP and pulse
o Possible anaemia, jaundice or lymphadenopathy
• Breast and axillary examination  breast exams are not routinely done in UK gynaecological practice unless
investigating a potentially malignant pelvic mass  make sure to inspect all 4 quadrants
• Abdominal examination
o Inspect  scars (symphysis pubis & umbilicus), body hair distribution, striae, hernias
o Palpate  masses from above the umbilicus down to symphysis pubis  do they arise from the pelvis
(eg. can you get below them?)
o Percuss
o Auscultate
• Vaginal examination  chaperone and offer toilet before
o Inspect  vulva & vaginal orifice  coloured area, ulcers or lumps  prolapse
o Digital bimanual examination  assess the pelvic organs
▪ Uterus  normal size & shape, size, consistency, regularity, mobility, anteversion or
retroversion and tenderness are assessed
▪ Cervix  hard or irregular, excitable  is the os open or close?
▪ Adnexa  tenderness, size, consistency of any mass  is it separate from the uterus?
▪ Pouch of Douglas  uterosacral ligaments should be palpable - are they even, irregular,
tender  is there a mass?
o Cusco’s speculum examination  allows inspection of cervix & vaginal wall
▪ Cervix may be very anterior in retroverted uterus
▪ Ulceration, spontaneous bleeding or irregularities
o Sims’ speculum  allows better inspection of the vaginal walls and prolapse
• Rectal examination  this is appropriate if there is posterior wall prolapse, to distinguish between entercoele
and rectocoele
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THE MENSTRUAL CYCLE AND ITS DISORDERS

PHYSIOLOGY OF PUBERTY
• Puberty  onset of sexual maturity  marked by the development of secondary sex characteristics
• Menarche  normally the last manifestation of puberty  average age is 13yrs in the West
• Puberty is centrally controlled (HPG axis)  >8y/o GnRH pulses increase in amplitude and frequency  so
FSH & LH release increases  stimulates oestrogen release from the ovary
• Oestrogen is responsible for development of 2o sexual characteristics
o Thelarche  breast development  starts 9-11y/o
o Adrenarche  growth of pubic hair  starts 11-12y/o  dependent on adrenal activity
o Menarche  irregular at first, but becomes regular as oestrogen secretion rises
• These changes are accompanied by a growth spurt  due to increased GH release  by 16y/o most growth
has finished and epiphyses fuse
PHYSIOLOGY OF THE MENSTRUAL CYCLE

• The hormonal changes of the menstrual cycle cause ovulation and induce changes in the endometrium that
prepare it from implantation should fertilisation occur
• Menstruation (day 1-4)  start of the menstrual cycle  endometrium is shed as hormonal support is
withdrawn  myometrial contraction may cause pain
• Proliferative phase (day 5-13)  GnRH pulses stimulate LH & FSH release inducing follicular growth  follicles
produce oestradiol & causing –ve feedback to suppress FSH allowing only one follicle and oocyte to mature 
oestradiol levels continue to rise causing a +ve feedback on HPG axis cause LH to rise sharply  ovulation
follows 36hrs after LH surge  oestradiol causes the endometrium to re-form and become proliferative
• Luteal/secretory phase (day 14-28)  the egg is released from the follicle, which becomes the corpus luteum
(CL) and produces progesterone (& a little oestradiol)  this induces secretory changes in the endometrium
(stromal cells enlarge, glands swell & blood supply increases)  towards the end of the luteal phase, the CL
starts to fail if the egg is not fertilised causing progesterone & oestrogen levels to fall withdrawing hormonal
support  endometrium breaks down, menstruation follows and the cycle restarts
• NB – continuous administration of exogenous progestogens maintains a secretory endometrium  this can
be used to delay menstruation
NORMAL AND ABNORMAL MENSTRUATION DEFINITIONS

• Menarche  <16yrs • Menstruation  <8 days in length
• Menopause  >40yrs • Blood loss <80ml
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• Cycle length  23-35 days • 2O amenorrhoea  periods stop>6 months
• Menorrhagia  heavy menstrual bleeding • Oligomenorrhoea  infrequent periods
• 1O amenorrhoea  period never starts • Dysmenorrhoea  painful periods
HEAVY MENSTRUAL BLEEDING (MENORRHAGIA)

• Menorrhagia is defined as excessive bleeding in an otherwise normal menstrual cycle  subjective definition,
but clinically defined as excessive menstrual blood loss that interferes with the woman’s physical, emotional,
social and material quality of life  objectively defined as blood loss >80ml in an otherwise normal menstrual
cycle
AETIOLOGY
• The majority of menorrhagia shows no histological abnormality  most women with regular cycles are
ovulatory and menorrhagia may result from subtle abnormalities of the endometrial fibrinolytic system or
utergine prostgladin levels
• Uterine fibroids (30%) and polyps (10%) are the most common pathology found  chronic pelvic infection,
ovarian tumours, endometrial/cervical malignancy are rare and more likely to cause irregular bleeding
• Other rarer causes
o Thyroid disease
o Haemostatis disorders  eg. von Willebrand’s disease
384
o Anti-coagulant therapy
CLINICAL FEATURES
• History  assess both the amount & timing of bleeding  ‘flooding’ and passing of large clots indicate
excessive loss  method of contraception should be ascertained
• Examination  anaemia is common
o Fibroids  irregular enlargement of uterus
o Adenomyosis  tenderness +/- uterine enlargement
o Ovarian mass
o Infection  tenderness and immobile pelvic organs
o Endometriosis  tenderness and immobile pelvic organs  co-exists not cause
INVESTIGATIONS
• Assess the effect of blood loss and fitness  check Hb
• Exclude systemic causes  coagulation & thyroid function is only checked if it is indicated
• Exclude local organic causes
o Transvaginal US  assesses endometrial thickness and excludes uterine fibroids, ovarian mass and
larger intrauterine polyps
o Endometrial biopsy  used to exclude malignancy or premalignancy
▪ Endometrial thickness >10mm
▪ Polyps suspected
▪ >40yrs with recent onset
▪ Not responded to treatment
o Hysteroscopy  allows an inspection of the uterine cavity  detects polyps and submucous fibroids
that could be resected
TREATMENT
• Intrauterine system (IUS) (1st medical line)  progestogen-
impregnated IUD is a coil that reduces menstrual flow by >90% with
considerably fewer side effects than systemic progestogens
• 2nd line medical treatment
o Anti-fibrinolytics (tranexamic acid)  taken during
menstruation only  acts by reducing fibrinolytic activity, but
has a few side effects
o NSAIDs (mefanamic acid)  inhibits prostaglandin synthesis
reducing blood loss by 30%  useful in dysmenorrhoea, but
side effects similar to aspirin
o Combined oral contraceptive  induces lighter menstruation,
but is less effective if there is pathology
• 3 line medical treatment
rd
o Progestogens  taken in high doses orally or by IM injection

will cause amenorrhoea, but bleeding will follow withdrawal
o Gonadotrophin-releasing hormone agonists  produce
amenorrhoea, but bleeding will follow withdrawal
• Hysteroscopic
o Polyp removal  GA or local anaesthesia
o Endometrial ablation techniques  more effective in older
women
385
o Transcervical resection of fibroid (TCRF)
o Myomectomy  removal of fibroids from the myometrium
o Hysterectomy  last resort
o Uterine artery embolization (UAE)  treats menorrhagia due to fibroids and suitable for women who
want to retain their uterus and avoid surgery
IRREGULAR MENSTRUATION AND INTERMENSTRUAL BLEEDING

CAUSES
• Anovulatory cycles  common in the early and late reproductive years
• Pelvic pathology  non-malignant causes include
o Fibroids
o Uterine/cervical polyps
o Adenomyosis
o Ovarian cysts
o Chronic pelvic infection
• With older women the chances of malignancy are slightly increased  particularly endometrial, but also
ovarian and cervical
INVESTIGATIONS
• Assess the effect of blood loss and fitness  check Hb
• Exclude malignancy  cervical smear  less likely in young women
• Ultrasound examination  performed for >35yrs and younger women if medical treatment has failed  will
also detect uterine fibroids or ovarian mass
• Endometrial biopsy  same criteria as for menorrhagia
TREATMENT
• Medical treatment is appropriate where no anatomical cause is detected  cycles are considered
anovulatory
o Intrauterine system (IUS) or COC are considered 1st line
o Progestogens in high doses will cause amenorrhoea, but bleeding will follow withdrawal  induce
secretory changes in the endometrium mimicking a normal menstruation
o Other treatments that are 2nd line for menorrhagia may also be used
• Cerivcal polyps can be avulsed and sent for histological examination
• Surgery is the same as menorrhagia  but some endometrium often remains and so irregular and light
bleeding may continue
AMENORRHOEA AND OLIGOMENORRHOEA

• Primary amenorrhoea  when menstruation has not started by 16y/o  it may be a manifestation of
delayed puberty  eg. when secondary sex characteristics are not present by 14y/o
• Secondary amenorrhoea  when previously normal menstruation ceases for 6 months or more
• Oligomenorrhoea  when menstruation occurs every 35 days to 6 months
CLASSIFICATION OF CAUSES
• Physiological amenorrhoea occurs during pregnancy, after the menopause and usually during lactation 
constitutional delay is common and often familial
• Pathological causes  may lie in the
o Hypothalamus o Thyroid
o Pituitary o Adrenals
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o Ovary o ‘Outflow tracts’
o Uterus
• Some drugs can increase prolactin levels causing amenorrhoea  eg. progestogens, GnRH analogues, anti-
psychotics
• The most common cause of secondary amenorrhoea or oligomenorrhoea are
o Premature menopause
o Polycystic ovarian syndrome (PCOS)
o Hyperprolactinaemia
• Hypothalamus hypogonadism  common and usually due to psychological factors, low weight/anorexia
nervosa or excessive exercise  tumours are uncommon and excluded by MRI  GnRH and therefore LH,
FSH & Oestradiol are reduced  treatment is supportive, but oestrogen & progesterone replacement is
required via COC or HRT
• Hyperprolactinaemia  usually caused by pituitary hyperplasia or benign adenomas  treatment is with
dopamine agonists (bromocriptine or cabergoline) or surgery
• Other pituitary causes
o Other pituitary tumours
o Sheehan’s syndrome  severe post-partum haemorrhage causes pituitary necrosis and varying
degrees of hypopituitarism
• Adrenal & thyroid gland  over or under active thyroid can cause amenorrhoea
o Hypothyroidism  leads to raised prolactin levels
o Congenital adrenal hyperplasia  very rare
• Acquried ovarian disorders
o PCOS is more common and can cause 1O or 2O amenorrhoea, although oligomenorrhoea is more
common  it is associated with subfertility and has long-term health consequences
o Premature menopause  occurs in 1 in 100 women
• Congenital causes
o Turner’s syndrome (XO)  short stature and poor secondary sexual characteristics, but normal
intelligence
o Gonadal dysgenesis  ovary is imperfectly formed due to mosaic abnormalities of the X chromosome
 very rare
o Androgen insensitivity  very rare
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MENSTRUAL FLOW IS OBSTRUCTED OR ABSENT

• Congenital problems  cause 1O amenorrhoea with normal secondary sexual characteristics  imperforate
hymen and transverse vaginal septum obstruct the menstrual flow, so blood collect in the vagina or uterus
over month  treatment is surgical
• Acquired problems  cause 2O amenorrhoea
o Cervical stenosis  prevents release of blood causing haematometra
o Asherman’s syndrome  consequence of excessive curettage at ERPC
POST-COITAL BLEEDING
• Post-coital bleeding is defined as vaginal bleeding following intercourse that is not menstrual loss  except
for 1st intercourse, this is always abnormal  cervical carcinoma must be excluded
• The cervix is more likely to bleed after mild trauma if it is not covered in healthy squamous epithelium 
cervical ectropions, benign polyps and invasive cervical cancer account for most cases
• Bleeding can occasionally com from the vaginal wall  usually if it is atrophic
• The cervix is carefully inspected and a smear is taken  it a polyp is evident, then it is avulsed and histology
sent off
• If the smear is normal, an ectropion can be frozen with cryotherapy  if not, colposcopy is undertaken to
exclude a malignant causes
DYSMENORRHOEA
• Dysmenorrhoea is painful menstruation  it is associated with high prostaglandin levels in the endometrium
 due to contraction and uterine ischaemia
• Primary dysmenorrhoea  when no organic cause is found  it usually coincides with the start of
menstruation and responds to NSAIDs or ovulation suppression  pelvic pathology is more likely if medical
treatment fails
• Secondary dysmenorrhoea  when pain is due to pelvic pathology and often precedes/relieved by the onset
of menstruation  deep dyspareunia and menorrhagia/oligomenorrhagia are common  pelvic US and
laproscopy are useful  most significant causes are
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o Fibroids
o Adenomyosis
o Endometriosis
o Pelvic inflammatory disease
o Ovarian tumours
PRECOCIOUS PUBERTY
• This is when menstruation occurs before 10y/o or other secondary sexual characteristics are evident before
8y/o  it is very rare  the growth spurt occurs early, but final height is reduced due to early fusion of the
epiphyses
• In 80% of cases, no pathological cause can be found  GnRH agonists are used to inhibit sex hormone
secretion  causes regression of secondary sex characteristics and cessation of menstruation
• Increased GnRH secretion (central cause)  may prevent normal prepubertal inhibition of hypothalamic
GnRH release
o Meningitis o Hydrocephaly
o Encephalitis o Hypothyroidism
o CNS tumours
• Increased oestrogen secretion (ovarian/adrenal cause)  hormone-producing tumours of the ovary or
adrenal glands can cause premature sexual maturation – regression will occur after removal  McCune-
Albright syndrome consists of bone and ovarian cysts, café au lait spots and precocious puberty – treatment is
with cyproterone acetate (anti-androgenic progestogen)
AMBIGUOUS DEVELOPMENT AND INTERSEX

• There may be many causes and degress of ambiguous genitalia  psychological support is important and
gender assignation should be considered
INCREASED ANDROGEN FUNCTION IN A GENETIC GEMALE

• Congential adrenal hyperplasia is autosomal recessive  cortisol production is defective, usually as a result of
21-hydroxylase deficiency  ACTH excess causes increased androgen production
• The condition normally presents at birth with ambiguous genitalia  glucocorticoid deficiency may cause
Addisonian crisis
• Occasionally, it presents at puberty with an enlarged clitoris and amenorrhoea
• Treatment involves cortisol and mineralocorticoid replacement  a lack of these can be fatal
• Other causes include
o Androgen secreting tumours
o Cushing’s syndrome
REDUCED ANDROGEN FUNCTION IN A GENETIC MALE

• Androgen insensitivity syndrome (AIS) occurs when a male has cell receptor insensitivity to androgens 
which are converted peripherally to oestrogens
• The individual will appear to be female  the diagnosis is only discovered when ‘she’ presents with
amenorrhoea  the uterus is absent and rudimentary tests are present  these are removed because of
possible malignant change and oestrogen replacement therapy is started
PREMENSTRUAL SYNDROME
389
• Premenstrual syndrome (PMS) encompasses psychological, behavioural and physical symptoms that are
experienced on a regular basis during the luteal phase of the menstrual cycle and often resolve by the end of
menstruation
• 95% of women experience some PMS  in about 5% it is severely debilitating
• It is dependent on normal ovarian function and progesterone  exogenous progestogens are known to cause
PMS-like symptoms
• History varies greatly  so it is not the symptoms that allow the diagnosis, but the cyclical nature 
behavioural changes include
o ‘Tension’ o Depression
o Irritability o Loss of control
o Aggression
• Treatments
o SSRIs are effective  can be given continuously or intermittently in the 2nd half of the cycle
o Endometrial ablation  reduces hormones
o Continuous oral contraceptive
o HRT oestrogen patche
o GnRH agonist & add-back oestrogen therapy (pseudomenopause)  severe cases
390
THE UTERUS AND ITS ABNORMALITIES

ANATOMY AND PHYSIOLOGY OF THE UTERUS
• Paramesonephric duct  merges in midline to form the uterus, vagina &

uterine tube
• Broad ligament  subdivided into mesosalpinx, mesovarium &
mesometrium
• Suspensory ligament  contains all ovarian vessels
• Uterus is anchored by the cervix, with the anchoring ligaments generated
from endopelvic fascia  transverse cervical & pubocervical
• The normal position of the uterus is antevetered & anteflexed (80%), but
can be retroverted and/or retroflexed (20%)  increases likelihood of prolapse
• The uterus is lined by glandular epithelium (endometrium) surrounded by smooth muscle (myometrium)
• Blood supply  the common iliac birfucates near the sacroiliac joint at L5/S1  the anterior branch supples
the organs/viscera of the pelvis, whilst the posterior branch supplies muscles and nerves  they all have
corresponding drainage
o I  iliolumbar
o Love  lacteral sacral
o Going  gluteal – superior & inferior
o Places  pudendal
o In  inferior vesicle/uterine
o My  middle rectal
o Very  vaginal/prostatic
o Own  obturator
o Underwear  umbilical
• NB – uterine artery forms rich anastomoses with ovarian artery, which comes off the aorta at L2  uterine
artery travels over ureter ‘bridge over water’
• Nerve supply
o Sympathetic  T12-l2  SHP via R&L hypogastric nerve
391
o Parasympathetic  S2-4  splanchnic nerve & visceral afferent
o Somatic  pudendal & distal 1/5 of vagina
FIBROIDS
• Fibroids (leiomyomata) are benign tumours of the myometrium  they are
present in 25% of women  more common approaching menopause, in
Afro-Caribbean and those with family history  less common in parous
women or those on COC or Depo
• Size varies from mm to filling the abdomen  can be intramural, sub-erosal
or submucosal  submucosal occasionally form intracavity polyps 
smooth muscle and fibrous elements are always present
• Fibroid growth is oestrogen (and progesterone) dependent  so regress
after menopause due to the reduction in circulation oestrogen
• 50% of fibroids are asymptomatic  symptoms are more related to size
o Menstrual problems  menorrhagia (30%) and intermenstrual bleeding (submucosal)
o Pain  dysmenorrhoea, but seldom cause pain unless torsion, red degeneration or sarcomatous
change occur
o Bladder  if pressing on bladder may cause frequency, urinary retention, hydronephrosis (ureters)
o Fertility  block the tubules or prevent implantation or unclear mechanism
• A solid mass may be palpable on examination  will arise from the pelvis and be continuous with the uterus
 small fibroids cause irregular ‘knobbly’ enlargement of the uterus
• Complications
o Enlargement  can be very slow  may stop growing & calcify after menopause  HRT may
restimualte them again  enlarged in mid-pregnancy
o Degeneration  due to inadequate blood supply  red degeneration characterised by pain and
uterine tenderness  hyaline/cystic degeneration leads to soft & liquefied fibroid
o Malignancy  0.1% of fibroids are leimyosarcomata  may be result on malignant change or de novo
malignant transformation of normal smooth muscle
• Pregnancy  red degeneration is common in pregnancy and cause severe pain  pedunculated fibroids may
tort postpartum  other complications
o Premature labour o Obstructed labour
o Malpresentations o Postpartum haemorrhage
o Transverse lie
• Ultrasound is helpful in diagnosis  but MRI or laparoscopy may be required to distinguish from ovarian mass
or adenomyosis  hysteroscopy or hysterosalpinogram (HSG) is used to assess distortion of the uterine
cavity, particularly in fertility issues
• No treatment is required for asymptomatic patients with small or slow-growing fibroids  the risk of
malignancy is small enough to not warrant routine removal or monitoring
• Medical management  tranexamic acid, NSAIDs & progestogens may be ineffective when menorrhagia is
also present, but worth trying as 1st line  GnRH cause temporary shrinkage and amenorrhoea, but can only
be used for 6 months due to side effects (used pre-surgery) – may be given with HRT to allow longer use 
surgery is used to manage women who want to conceive as hormone treatments can prevent ovulation
• Surgical management
o Hysteroscopy  fibroid polyp or small submucosal fibroid (3-4mm)  pretreatment with GnRH to
shrink, reduce vascularity and thin endometrium
o Hysterectomy  scopically, vagianlly or abdominally
392
o Myomectomy  open or laproscopically  used in medical treatment failed, but preservation of
reproductive function is required
o Embolisation  uterine artery embolization by radiologists  hospital stay is shorter, but pain may
be higher requiring readmission
• NB – if open procedure is used to remove fibroids, then children must be delivered by C-section in the future
to prevent uterine rupture
ADENOMYOSIS
• Adenomyosis (endometriosis interna)  is the presence of endometrium and its underlying stroma within the
myometrium
• Incidence in unknown, but it occurs in up to 40% of hysterectomy speciments  most common around 40y/o
 associated with endometriosis and fibroids
• The condition is oestrogen dependent  aetiology and effects on fertility are unclear
• Symptoms may be absent  but painful, regular, heavy menstruation is common  examination may show a
mildly enlarged and tender uterus
• Adenomyosis is not easily diagnosed by US  but can be seen on MRI
• Treatment is with progesterone IUS or COCP +/- NSAIDs to control menorrhagia and dysmenorrhoea  but
hysterectomy is often required
OTHER BENIGN CONDITIONS OF THE UTERUS

ENDOMETRIOSIS
• Often secondary to STI, a complication of surgery (C-section or intrauterine procedure) or because of foreign
tissue (IUDs or retained products of conception)
• Infection in the post-menopausal uterus is commonly due to malignancy  the uterus is tender and
pelvic/systemic infection may be evident
• Pyometra  when pus accumulates and is unable to escape
• Antibiotics and occasionally ERPC are required
INTRAUTERINE POLYPS
• Small, usually benign tumour that grow in the uterine cavity  most are endometrial in origin, but can be
derived from submucosal fibroids  occasionally contain endometrial hyperplasia or carcinoma
• Common in women aged 40-50yrs and when oestrogen levels are high  but may be found in post-
menopausal women on tamoxifen for breast cancer
• Sometimes asymptomatic  but often causes menorrhagia and intermenstrual bleeding  very occasionally
prolapse
• Diagnosed using US or when a hysteroscopy is performed because of abnormal bleeding  resection of polyp
with cutting diathermy or avulsion normally cures bleeding problems
HAEMATOMETROA
• Accumulation of menstrual blood in the uterus due to outflow obstruction  cervical canal may be occluded
by fibrosis or congenital abnormalitiy
CONGENITAL UTERINE MALFORMATION

• Abnormalities result from differing degrees of failure of fusion of the two Muellerian ducts at 9 weeks 
these are common, but rarely clinical relevant
• 25% cause pregnancy related problems that lead to their discovery  including
o Malpresentations or transverse lie
o Premature labour
393
o Recurrent miscarriage (<5%)
o Retained placenta
• Depending on the malformation, surgery is sometimes a treatment option  but complication rates are often
too high
• Women with a congenital uterine anomaly have an increased incidence of renal anomlies and should undergo
renal tract imaging
ENDOMETRIAL CARCINOMA
• The most common genital tract carcinoma  prevalence is highest at 60y/o  only 15% pre-menopausally
and <1% in women <35yrs
• Presents relatively early, so considered relatively benign  but stage for stage the prognosis is similar to
ovarian carcinoma
• Most commonly it is an adenocarcinoma of columnar endometrial gland cells (90%)  of the rest, the most
common is adenosquamous carcinoma, which contain malignant squamous and glandular tissue so has a
poorer prognosis
• Main risk is a high ratio of oestrogen to progestogen  therefore most common from oestrogen production
is high or oestrogen therapy is used ‘unopposed’ by progestogens
• Other risk factors
o Obesity  peripheral conversion of androgens to oestrogen
o PCOS  associated with prolonged amenorrhoea, nulliparity and late menopause
o Ovarian granulosa cell tumour  oestrogen-secreting tumour
o Tamoxifen use  agonist in the post-menopausal uterus
• A history of COCP and pregnancy is protective
PREMALIGNANT DISEASE
• Oestrogen acting unopposed or erractically can cause ‘cystic hyperplasia’ of the endometrium  further
stimulation can cause atypical hyperplasia of cellular and glandular architecture  this may cause menstrual
abnormalities or post-menopausal bleeding  it is premalignant
394
• Hyperplasia with atypia often coexists with carcinoma elsewhere in the uterine cavity (40%)  the discovery
of atypia is unusually in women of reproductive age  but if it is progestogens with 6 monthly endometrial
biopsies are advised as hysterectomy is the normal treatment
CLINICAL FEAUTRES
• Post-menopausal bleeding is the most common presentation  the risk of it being due to endometrial cancer
rather than benign or unknown causes increases with age
• Pre-menopausal patients have irregular or intermenstrual bleeding  occasionally recent onset menorrhagia
 a cervical smear may contain abnormal columnar cells (CGIN)
STAGING
• Tumours spread directly through the myometrium to the cervix and upper vagina  the ovaries may also be
involved
• Lymphatic spread is to the pelvis and then para-aortic lymph nodes  blood-borne spread is a late stage
• Staging is surgical and histological  also includes lymph node involvement unlike cervical cancer staging
• Histological grades  G1-3 is also included in each stage  G1 is a well differentiated tumour
INVESTIGATIONS
• Endometrial biopsy is required to make the diagnosis  staging is only possible after a hysterectomy
• MRI is performed in patients where spread is suspected or a higher risk endometrial histology is seen
• CXR is required to exclude rare pulmonary spread
TREATMENT
• 75% of patients present with Stage 1  leading to a hysterectomy and bilateral salpinogo-oophorectomy
(BSO) either abdominally or laparoscopically
• As staging is surgico-pathological  disease that may first appear as Stage 1, may actually be Stage 3 if lymph
nodes are involved  however, lymphadenectomy is not beneficial in early stages  instead an estimate of
stage and risk should be made to determine further management including radiotherapy
• Risk factors for lymph node involvement from pathological examination of the uterus are
o Deep myometrial spread
o Poor tumour histology or grade
o Cervical stroma involvement (eg. Stage 2b)
• External beam radiotherapy  used following hysterectomy in patients considered ‘high risk’ and above for
lymph node involvement  used for pelvic recurrence  most beneficial if it has not been given previously
• Vaginal vault radiotherapy  used where the above risk factors are present  usuage reduces local
recurrence, but does not prolong survival
395
• Chemotherapy  may have a limited role in high-risk early and advanced-stage disease  though the
response may be modest
PROGNOSIS
• Recurrence is most common at the vaginal vault  normally in the first 3 years
• Poor prognostic features are
o Older age
o Advanced clinical stage
o Deep myometrial invasion in Stage 1&2
o High tumour grade
o Adenosquamous histology
UTERINE SARCOMAS
• Uterine sarcomas are rare tumours  accounting for only 150 cases per year in the UK  there are 3
categories
o Leiomyosarcomas  malignant fibroids
o Endometrial stromal tumours  tumours of the stroma beneath the endometrium  range from
benign nodule to highly malignant stromal sarcoma  most common in the peri-menopausal women
o Mixed Mullerian tumours  derived from embryological tissue  more common in old age
• Present with irregular or post-menopausal bleeding  leiomyosarcomas also show rapid painful enlargement
of a fibroid
• Treatment is hysterectomy  radiotherapy or chemotherapy may be used subsequently  but overall
survival is only 30% at 5 years
396
THE CERVIX AND ITS DISORDERS

ANATOMY AND FUNCTION OF THE CERVIX
ANATOMY
• Cervix is a tubular structure  continuous with the uterus  2-3cm long  predominantly elastic connective
• Connect the uterus to the vagina  allows sperm in and menstrual flow out
• In pregnancy it holds the foetus in the uterus  dilates in labour to allow delivery of the foetus
• Attached posteriorly to the sacrum by the uterosacral ligaments  and laterally to the pelvic side wall by the
cardinal ligaments
• Lateral to the cervix is the parametrium  containing connective tissue, uterine vessels and the ureters
HISTOLOGY AND THE TRANSFORMATION ZONE

• There are two areas of the cervix  the two cell types meet at the squamocolumnar junction
o Endocervix  lined with glandular epithelium
o Ectocervix  lined by squamous epithelium
• During puberty and pregnancy, partial eversion of the cervix occurs  lower pH of the vagina causes the
columnar epithelium to undergo metaplasia to squamous epithelium  produces a transformation zone at
the junction
• Cells undergoing metaplasia are vulnerable to agents that induce neoplastic change  it is from this area that
cervical carcinoma commonly originates
BLOOD SUPPLY AND LYMPH DRAINAGE

• Blood supply is from the upper vaginal branches and the uterine artery
• Lymph drainiage is to obturatory and internal & external iliac nodes  then to the common iliac and para-
aortic nodes
• Cervical carcinoma characteristically spreads in the lymph  locally by direct invasion into the uterus, vagina,
bladder and rectum
397
BENIGN CONDITIONS OF THE CERVIX

• Cervical ectropion (erosion)  the columnar epithelium of the endocervix are visible as a red area around the
external os  due to eversion and is a normal finding in younger women, particularly those who are pregnant
or taking the pill  normally asymptomatic, but can occasionally cause vaginal discharge or postcoital
bleeding  treated with cryotherapy, but only after a smear/colposcopy excludes a carcinoma  NB –
exposed epithelia are prone to infection
• Acute cervicitis  rare, but often results from STIs  ulceration and infection are occasionally found in severe
degress of prolapse when the cervix protrudes or is held back with a pessary
• Chronic cervicitis  chronic inflammation or infection, often of an ectropion  common cause of vaginal
discharge  may cause ‘inflammatory smears’  cyrotherapy is used +/- antibiotics depending on bacterial
culture
• Cervical polyps  benign tumours of the endocervical epithelium  most common >40yrs and normal <1cm
 may be asymptomatic, but can cause intermenstrual or postcoital bleeding  small polyps can be avulsed
without anaesthetic and histologically, but bleeding abnormalities must still be investigated
• Nabothian follicles  where squamous epithelium has formed been by metaplasia over endocervical cells 
the columnar cells secretions are trapped and form retention cysts  appears as white or opaque swelling on
the ectocervix  treatment is not required unless sympatomatic
• Congenital malformations  the uterus or cervix may be absent or varying degrees of duplication may occur
PREMALIGNANT CONDITIONS OF THE CERVIX – CIN

• Cervical intraepithelial neoplasia (CIN)  also known as cervical dysplasia  the presence of atypical cells
with the squamous epithelium  these atypical cells are dyskaryotic, so exhibit larger nuclei with frequent
mitoses
• The severity of CIN is graded I-III  dependent on the extent to which these cells are found in the epithelium
 therefore a histological diagnosis
o CIN I (mild dysplasia)  atypical cells are found only in the lower third of the epithelium
o CIN II (moderate dysplasia)  atypical cells are found in the lower two-thirds of the epithelium
o CIN III (severe dysplasia)  atypical cells occur in the full thickness of the epithelium
• CIN III is also known as carcinoma in situ  the cells are similar to appearance to those in malignant lesion,
but there is no invasion  malignancy ensues if these abnormal cells invade through the basement
membrane
• In untreated, 1 in 3 women with CIN II/III will develop cervical cancer in the next 10yrs  CIN I has the least
malignant potential and commonly regresses spontaneously, but can progress to CIN II/III
• 90% of women with CIN III are <45yrs  peak incidence in those aged 25-29yrs
398
AETIOLOGY
• Human papilloma virus (type 16, 18, 31 & 33)  most important factor is the number of sexual contacts,
particularly in early age  vaccination against individual viruses reduces the incidence of precancerous
cervical lesions and therefore the potential for cervical cancer, but should be administered before 1st sexual
contact as it is only prophylactic
• Oral contraceptive useage and smoking  associated with a slightly increased risk of CIN
• Immunocompromised patients (eg. HIV)  also at an increased risk and of early progression to malignancy
PATHOLOGY
• Columnar epithelium undergoes metaplasia to squamous epithelium in the transformation zone  exposure
to HPV results in incorporation of viral DNA into cell DNA  viral proteins inactivate key tumour suppressor
gene products and pushes the cell into a cell cycle  over time other mutations accumulate and can lead to
carcinoma
• Viruses can also cause changes to hide the infected cell from the immune system  failure of the immune
system to detect and destroy these cells can result in malignancy  eg. cell changes or immunosuppression
DIAGNOSIS
• CIN is asymptomatic and is not visible of the cervix  diagnosis identifies women at high risk of developing
cervical carcinoma who could be treated before the disease develops  identification of CIN is therefore the
principal step in screening for cervical cancer
• Cervical smears  performed on all women from 25yrs, or after 1st intercourse if later, then repeated every
3yrs until 49y/o  between 50-64yrs smears are performed every 5yrs  from >65yrs only those who have
been screening since 50yr or have had recent abnormal tests are screened
• Abnormal smears identifies women likely to have CIN and therefore at risk of subsequent development on
invasive cancer
• Women <25yrs often have abnormal cervical changes  but the risk of cervical cancer is very low
• Smears use liquid-based cytology to assess the cells collected from the transformation zone  identifies
cellular abnormalities as only superficial cells are sampled  these abnormalities are called dyskaryosis
• Dyskaryosis is graded mild, moderate and severe  suggests the presence of CIN, with grading partly
reflected the severity of CIN
• Colposcopy is used to investigate abnormal smear  hysteroscopy is used if the cause of the abnormal cells is
still unclear
• Occassionally, abnormal columnar cells are visible (cervical glandular intraepithelial neoplasia (CGIN) 
adenocarcinoma of the cervix and endometrium should then be excluded using colposcopy and endocervical
curettage or cone biopsy
COLPOSCOPY
• If a cervical smear is severely or persistently abnormal  a colposcopy is performed to detect the presence
and grade of CIN
• The cervix is inspected via a speculum using a operating microscopy with magnification 10 to 20-fold
399
• Grades of CIN have characteristic appearance when stained with 5% acetic acid  although the diagnosis is
only confirmed histologically and therefore a biopsy is required
TREATMENT
• CIN II or II  large loop excision of transformation zone (LLETZ) the transformation zone is excised with
cutting diathermy under local anaesthetic  the specimen is examined histologically
• LLETX enable diagnosis and treatment to be achieved at the same time  so has replaced laser or diathermy
treatment  only major complications is post-operative haemorrhage (uncommon) and risk of subsequent
preterm delivery is slightly increased
• Alternatively, small biopsy of the abnormal area can be taken colposcopically and confirmatory results
awaited before prforming LLETZ
• If CIN II is found then the woman has around a 30% chance of developing cancer over 8-15 years  but
screening has reduced the number of cervical cancers in the UK by 75% over the last 20 years
MALIGNANT DISEASE OF THE CERVIX

• Cervical carcinoma can occur at any age after 1st intercourse  but has 2 peaks of incidence at 30yrs and
80yrs  the higher incidence of older women is due to a ‘cohort effect’ of higher cervical cancer rates in
women during the 1920s who first became sexually active during or after the WW2
• 95% of cervical malignancies are squamous cell carcinoma  10% are adenocarcinomas originating from the
columnar epithelium (worse prognosis)
• CIN is the pre-invasive stage  causative factors are therefore the same  HPV is found in all cervical
cancers, so vaccination is likely to prevent many cases in the future  immunosuppression also accelerates
the process of invasion from CIN
• NB - there is no familial link for cervical cancer
CLINICAL FEATURES
• Occult carcinoma  when there are no symptoms, but the diagnosis is made by biopsy or LLETZ
• Signs & symptoms
o Postcoital bleeding
o Offensive vaginal discharge
o Intermenstrual bleeding
o Post-menopausal bleeding
o Pain (late feature)
• In the later stages of the disease there may be involvement of ureters, bladder, rectum and nerves causing
o Uraemia
o Haematuria
o Rectal bleeding
o Pain
• An ulcer or mass may be visible or palpable on the cervix  but with early disease the cervix may appear
normal to the naked eye
SPREAD AND STAGING

• The tumour spreads locally to the parametrium and vagina  then to the pelvic side wall
o Lymphatic spread to the pelvic nodes is an early feature
o Ovarian spread is rare with squamous carcinoma
o Blood-bourne spread occurs late
400
• The International Federation of Gynaecology and Obstetrics (FIGO) classification is clinical  although
divisions of Stage 1 are histological (local excision)  limited as a predictor of survival as does not include
lymph nodes  although involvement more likely to suggest advanced stages
INVESTIGATIONS
• Confirm diagnosis  the tumour is biopsied
• Stage the disease  vaginal and rectal examination used to assess size of lesion and parametrial or rectal
invasion  examination done under anaesthetic, unless small  cystoscopy detects bladder involvement 
MRI detects tumour size, spread and lymph node involvement
TREATMENT
• Stage 1a(i)  treated with cone biopsy  as risk of LN spread is only 0.5%  hysterectomy is preferred in
older women
• Stage 1a(ii) to 2a  choice between surgery and chemo-radiotherapy  if no LN involvement
o Radical abdominal hysterectomy  includes pelvic node clearance, hysterectomy and removal of
parametrium and upper third of the vagina  ovaries only left in young women to prevent
menopause  complications include
▪ Haemorrhage
▪ Ureteric and bladder damage
▪ Fistulae
▪ Voiding problems
▪ Accumulation of lymph
o Radical trachelectomy  less invasive procedure for conserving fertility  laparoscopic pelvic
lymphadenectomy is first performed (+ve = chemo-radiotherapy)  involves removal of 80% of cervix
and upper vagina  suitable for Stage 1a(ii)-1b(i) is tumour is <20mm  a cervical suture is inserted
to help prevent preterm delivery  if margins are incomplete then chemo-radiotherapy is required
• Stage 2b or worse (+ve LN)  should be treated with radiotherapy and chemotherapy (eg. platinum agents)
 the use reduced recurrence and increases survival  palliative radiotherapy is used for bone pain or
haemorrhage
• Recurrent tumours  treated with chemo-radiotherapy is not used previously  pelvic exenteration
(removal of vagina, bladder and/or rectum) can be considered if the disease is central if it has been used and
has 50% cure rate  pre-operative MRI & PET scan used to look for metastases
• Patients are reviewed at 3 and 6 months  then every 6 months for 5 years  recurrent disease is commonly
central
401
• Poor prognostic indicators are
o LN involvement
o Advanced clinical stage
o Large primary tumour
o Poorly differentiated tumour
o Early recurrence
• Death is commonly from uraemia due to ureteric obstruction
402
THE OVARY AND ITS DISORDERS

ANATOMY AND FUNCTION OF THE OVARIES
• The ovaries occupy the ovarian fossa on the lateral pelvic wall overlying the ureter  also attached to the
o broad ligament by the mesovarium
o pelvic side wall by the infundibulopelvic ligament
o uterus by the ovarian ligament
• Blood supply is from the ovarian artery  there is also an anastomosis with branches of the uterine artery in
the broad ligament
• The ovaries have an outer cortex covered by ‘germinal epithelium’  inner medulla contains connective
tissue and blood vessels  cortex contains the follicles and theca cells
• Oestrogen is secreted by granulosa cells in the growing follicles and theca cells  the rare tumours of these
cells secrete oestrogen
• A few follicles start to enlarge every month under the influence of FSH  but only one will reach ~20mm in
size and rupture in response to the LH surge to release its oocyte
• After ovulation, the collapsed follicle becomes a corpus luteum  this continues to produce oestrogen and
progesterone to support the endometrium whilst awaiting fertilisation and implantation
• If fertilisation and implantation does not occur  then the corpus luteum involutes, hormone levels decline
and menstruation begins
• If fertilisation and implantation does occur  then human chorionic gonadotrophin (hCG) produced from
trophoblasts maintains the corpus luteum function and hormone production until 7-9 weeks gestations, when
the foetoplacental unit takes over
403
• Follicular and lutein cysts result from persistence of these structures in non-pregnant women
OVARIAN SYMPTOMS
• Ovarian masses are often silent  only detected when very large causing abdominal distention, or on
ultrasound scan  acute presentation is associated with ‘accidents’
• Ovarian cyst rupture  contents enters the peritoneal cavity causing intense pain  particularly with an
endometrioma or dermoid cyst
• Haemorrhage  into the cyst or peritoneal cavity often cause pain  can cause hypovolaemic shock if severe
enough
• Torsion  of the pendicle, which is bulky due to the cyst  causes infaraction of the ovary +/- tube and
severe pain  urgent surgery and detorsion is required if the ovary is to be saved
DISORDERS OF OVARIAN FUNCTION

• Polycystic ovary syndrome (PCOS)  common disorder causing oligomenorrhoea, hirsutism and subfertility
 the cysts are small, multiple, poorly developed follicles
• Premature menopause  when the last period is reach <40yrs
• Problems of gonadal development  includes the gonadal dysgeneses  the most common is Turner’s
syndrome
PRIMARY NEOPLASMS
• Primary neoplasms can be benign or malignant  they are classified together because a benign cyst may
undergo malignant change
EPITHELIAL TUMOURS
• Derived from the epithelium covering the ovary  most common in post-menopausal women
• Borderline  histology may show ‘borderline’ malignant features, but invasion is not  these tumours may
become frankly malignant  in these tumours surgery is advised, but in younger women close observation
may be offered following removal of only the cyst or affect ovary  recurrence as a borderline or invasive
tumour can occur up to 20 years later
• Serous cystadenoma or adenocarcinoma  the malignant variety is the most common malignant ovarian
neoplasm (50%)  benign and borderline forms also exist
• Mucinous cystadenoma or adenocarcinoma  can become very large, but less frequently malignant (10%) 
a rare borderline variant is pseduomyoxma peritonei  this is where the abdominal cavity fills with gelatinous
mucin secretions  in these cases an appendiceal primary tumour should be excluded
404
• Endometrioid carcinoma  this malignant variant accounts for 25% of ovarian malignancies  it is similar
histologically to endometrial carcinoma, with which it is highly associated (20%)
• Clear cell carcinoma  malingnat variant that accounts for less than 10% of ovarian malignancies  has a
particularly poor prognosis
• Brenner tumours  rare  usually small and benign
GERM CELL TUMOURS

• Germ cell tumours originate from the undifferentiated primordial germ cells of the gonad
• Teratoma or dermoid cyst  common benign tumour usually arising in young pre-menopausal women  may
contain fully differentiated tissue of all cell lines (hair and teeth)  commonly bilateral, seldom large and
often asymptomatic, but rupture can be painful  a malignant form also occurs in this age group, but is very
rare (solid teratoma)
• Dysgerminoma  female equivalent of the seminoma  rare, but is most common ovarian malignancy in
younger women  it is very sensitive to radiotherapy
SEX CORD TUMOURS

• Sex cord tumours originate from the stroma of the gonad
• Granulosa cell tumours  usually malignant, but slow growing  rare and usually found in post-menopausal
women  they secrete high levels of oestrogen and inhibin, which stimulate the endometrium causing
o Bleeding
o Endometrial malignancy
o Endometrial hyperplasia
o Precocious puberty
Serum inhibin levels are used as tumour markers to monitor recurrence
• Thecomas  very rare, usually benign and can secrete both oestrogens and androgens
• Fibromas  rare and benign  can cause Meigs’ syndrome – ascites and right pleural effusion are found in
conjunction with a small ovarian cyst  effusion is benign and cured by removal of the mass
SECONDARY MALIGNANCIES
• The ovary is a common site for metastic spread  particularly from breast and GI tract  secondaries
account for up to 10% of malignant ovarian masses
• A few contain ‘signet-ring’ cells  these are call Krukenberg tumours
• The primary malignancy may be difficult to detect  prognosis is very poor
TUMOUR-LIKE CONDITIONS
• Endometriotic cyst  endometriosis commonly causes altered blood to accumulate in ‘chocolate cysts’  in
the ovary these are called endometriomas  rupture is very painful
• Functional cysts  follicular cysts (enlarged follicles) and lutein cysts (copora lutea) are found in pre-
menopausal women  follicular cysts are protected against by the COCP as it inhibits ovulation  lutein cysts
cause more symptoms  if symptoms are absent, treatment is not required and the cyst is observed using
serial USS  if a functional cyst >5cm persists >2 months, CA125 is measured and laparoscopy considered to
remove or drain the cyst
CARCINOMA OF THE OVARY

• Ovarian cancer is often silent  therefore it presents late, meaning the disease is widely metastatic within
the abdomen  the 10yr survival rate is 40-50%
405
• There are 7000 new cases every year in the UK, causing 4200 deaths  rates increase with age and 85% of
cases occur in women >50yrs, with the median age of diagnosis as 63yrs  the lifetime risk is 1 in 60 in the
UK
• 95% overall are epithelial carcinoma  germ cell tumours are the most common if a women is <30yrs 
primary peritoneal and fallopian tube CA are rare malignancies, but share similarities with ovarian CA
AETIOLOGY
• Benign cysts undergo malignant change, but a premalignant phase is not normally recognised
• Risk factors relate to the number of ovulations  therefore early menarch, late menopause and nulliparity
are risk factors  pregnancy, lactation and the use of the pill is protective
• Ovarian CA may also be familial (5%) via BRAC1, BRAC2 or HNPCC gene mutations  if two relatives are
affected, the lifetime risk is 13% and if BRAC1 is present there is a 50% risk 
• BRAC1 and BRAC2 gene mutations are also associated with breast cancer  whilst HNPCC (Lynch’s syndrome)
is associated with an increased risk of bowel (80% lifetime risk) and endometrial CA
• There is an increased recognition that the majority of high-grade serious adenocarcinomas actually originate
in the fallopian tubes  the most common of which is ovarian CA
• Women with a family history can be offered counselling and testing for genetic mutation in BRAC1 and BRAC2
genes  those with the mutations are offered prophylactic salpino-oophorectomy
CLINICAL FEATURES
• Symptoms are often initially vague and/or absent  so 70% of patients present with stage 3-4 disease
• Signs and symptoms
o Persistent abdominal distention  ‘bloating’
o Feeling full (early satiety) and/or loss of appetite
o Pelvic or abdominal pain
o Increased urinary urgency and/or frequency
• Many of the symptoms are similar to those of IBS  but since this rarely presents for the first time in older
women, ovarian CA must be excluded
• It is important to ask about breast and GI symptoms  a mass may be metastatic from these sites
• Examination may reveal cachexia, an abdominal or pelvic mass and ascites  very large masses are likely to
be malignant  breasts should also be palpated
SPREAD AND STAGING

• Ovarian adenocarcinoma spreads directly within the pelvis and abdomen via transcoelomic spread 
lymphatic and blood-borne spread (rare) can also occur
• Staging is surgical and histological
406
INVESTIGATIONS
• CA125 should be measured in women >50yrs with abdominal symptoms (discussed earlier)  if CA125 is
raised (>35IU/ml), an abdo & pelvic USS is arranged  is USS or physical examination identifies ascites and/o
a pelvic/abdominal mass, urgent referral to secondary care is undertaken
• For women <40yrs, levels of alpha fetoprotein (AFP) and hCG are measure to identify women who may not
have epithelial ovarian CA  as levels are raised in germ cell tumours
• The risk of malignancy index (RMI) is calculated from the product of the USS score (U=0-3), menopause status
(M=1-3) and serum CA125 level  all women with a RMI ≥250 are referred to MDT
RMI = U x M x C125
• The USS result is scored 1 point for each of the following characteristics  U=3 is for points 2-5
o Multilocular cysts
o Solid areas
o Metastases
o Ascites
o Bilateral lesions
• Menopausal status is scored as 1 = pre-menopausal and 3 = post-menopausal
• CT pelvis and abdomen is performed to establish the extent of the disease  further staging is surgical
MANAGEMENT
• A midline laparotomy allows a total hysterectomy, bilateral salpino-oophorectomy and partial omentectomy
to be performed  with biopsies of any peritoneal deposits, random biopsies of the peritoneum and
retroperitoneal lymph node assessment
o Stage 1  retroperitoneal LN are samples
o Stage 2 or higher  LN are removed through block dissection if enlarged
• For advanced tumours, the prognosis relates to the effectiveness of the initial debulking procedure 
patients who have complete debulking have a better prognosis
• Ultraradical surgery is increasing  this may involve bowel resection, splenectomy and peritoneal stripping to
achieve complete cytoreduction
• In young women wishing to preserve fertility, where disease appears early or is borderline  the uterus and
unaffected ovary may be preserved, but meticulous further staging and follow up are required
407
• A confirmed tissue diagnosis is required before offering chemotherapy  if surgery has not be performed,
tissue may be obtained through percutaneous image-guided biopsy or laparscopy  if tissue cannot be
gained, then cytology from paracentesis of ascites can be performed
• CA124 levels are used to monitor the response to chemotherapy
o Very early (low grade histology, stage 1a and 1b)  chemotherapy is not usually given
o Other stage 1 (high grade, stage 1c)  six cycles of the platinum agent carboplatin are used
o Stage 2-4  Carboplatin (or cisplatin) alone or in combination with paclitaxel is used
• 2 out of 3 women whose tumours initially respond to 1st line chemotherapy will relapse within 2yrs of
completing treatment
• Many women now receive neoadjuvant chemotherapy  eg. they do not have surgery initially, but receive
chemotherapy and have surgery half way through the course  this causes less mobidity, although there is
no evidence to suggest a difference in survival
• Early-stage malignant germ cell tumours can often be adequately treated with removal of the adnexa,
allowing preservation of fertility  higher risk and more advanced germ cell tumours are usually treated with
chemotherapy and are generally highly sensitive
• Dysgerminomas are sensitive to radiotherapy, but chemotherapy is more effective and so preferred
FOLLOW UP AND PROGNOSIS

• Levels of CA125 and CT scans are used to detect residual disease or relapse
• Poor prognostic indicators are
o Advanced stage
o Poorly differentiated tumours
o Clear cell tumours
o Slow or poor response to chemotherapy
• Death is commonly from bowel obstruction or perforation
• Women must be offered support and written information  including psychosocial & psychosexual issues
and genetic aspects throughout the process of investigation, diagnosis and treatment
PALLIATIVE CARE
• Only 30% of women are cured from their gynaecological carcinoma  ovarian CA causes the most deaths
• Palliative care  the active total care of the patient whose disease is incurable  the aim is to increase
quality of life for the patient and her family  this involves addressing symptoms, as well as meeting the
patient’s social, psychological and spiritual needs
• Important issues include
o The problems of prolongation of poor quality life
o Euthansia
o Symptom control vs. drug side effects
o Make the transition from curative to palliative care
o Resource allocation
408
SYMPTOM CONTROL
• Pain  the analgesic ladder is used, along with co-analgesics (anti-depressants, steroids and cytotoxics) 
opioid analgesia can be ‘patient controlled’ and is normally accompanied by an anti-emetic  alternative
techniques, such as acupuncture or behavioural techniques may allow greater patient control
• Nausea & vomiting  affects 60% of patients with advanced carcinoma  may be due to opiates, metabolic
causes (uraemia), vagal stimulation (bowel distention) or psychological factors  anti-emetics include anti-
cholinergics, anti-histamines, dopamine antagonists and 5HT-3 antagonists
• Heavy vaginal bleeding  may occur with advanced cervical and endometrial CA  high-dose progestogens
may be helpful  radiotherapy is often used if it has not been used before
• Ascites and bowel obstruction  particular features of advanced ovarian CA  ascites is best drained slowly
by repeated paracentesis and obstruction is ideally managed at home (metoclompramide, stool softeners,
enemas with dexamethasone, cyclizine and hyoscine)
• Terminal distress  the last 24hrs are often the memories the relatives will retain  the terminal stage
should be managed sensitively with time for the patient and relatives in a quiet environment  good
symptom control with anxiolytics and analgesics without overly sedating can allow valuable time with the
family
409
DISORDERS OF THE VULVA AND VAGINA

ANATOMY
• The vulva is the area of skin that stretches from the labia majora laterally to the mons pubis anteriorly and
perineum posteriorly  it overlaps the vestibule (area between labia minora and hymen), which surrounds
the urethral and vaginal orifices
• The vagina is 7-10cm long  it is lined with squamous epithelium
o Anterior  bladder and urethra
o Posterior to the upper third  pouch of Douglas
o Lower posterior wall  close to rectum
• Most lymph drainage occurs via the inguinal lymph nodes  which drain to the femoral and then the external
iliac nodes of the pelvis  this is a route for metastatic spread of vulval carcinoma
VULVAL SYMPTOMS
• Most common vulval symptoms
o Pruritis
o Soreness
o Burning
o Superficial dyspareunia
• Symptoms can be due to local problems  including infection, dermatological disease, malignant and
premalignant disease and the vulval pain syndromes
• Skin diseases affect the vulva, but rarely in isolation  systemic diseases can also predispose to certain vulval
conditions – eg. candidiasis with DM
• Causes of pruritus vulvae
o Infections
▪ Candidiasis (± vaginal discharge)
▪ Vulval warts (condylomata acuminate)
▪ Pubic lice, scabies
o Dermatological disease  any condition, but especially
▪ Eczema
▪ Psoriasis
▪ Lichen simplex
▪ Lichen sclerosus
▪ Lichen planus
▪ Contact dermatitis
o Neoplasia
▪ Carcinoma
▪ Premalignant disease  VIN
BENIGN DISORDERS OF THE VULVA AND VAGINA

LICHEN SIMPLEX (CHRONIC VULVAL DERMATITIS)
• Common in women with sensitive skin, dermatitis or eczema  this presents with severe intractable pruritus,
especially at night
• Typically the labia major is affected  it can become inflamed and thickened with hyper- and
hypopigmentation
• The symptoms can be exacerbated by chemical or contact dermatitis  sometimes linked to stress or low
body iron stores
410
• Vulval biopsy is indicated if the diagnosis is in doubt
• Emollients, moderately potent steroid creams and anti-histamines are used to treat
LICHEN PLANUS
• A common disease which can affect any area of the body  particularly mucosal surfaces, such as mouth and
genital region
• Presents with flat, popular, purplish lesions  in the mouth and genital region it can be erosive and is more
commonly associated with pain than pruritus
• The aetiology is unknown, but may be autoimmune related  it can affect all aged and is not linked to
hormonal status
• Treatment is with high-potency steroid creams  surgery should be avoided
LICHEN SCLEROSUS
• In lichen sclerosus the vuval epithelium is thin with loss of collagen  this may have an autoimmune basis and
thyroid diseas & vitiligo may coexist  ~40% of women have or go on to develop another autoimmune
conidition
• Typically affects post-menopausal women, but much younger women can occasionally be affected
• It causes severe pruritus, which may be worse at nigt  uncontrollable scratching may cause trauma with
bleeding and skin splitting, symptoms of discomfomort, pain and dyspareunia
• The skins appearance is pink-white papules  which coalesce to form parchment-like skin with fissures 
inflammatory adhesions can form, potentially causing fusion of the labia and narrowing of the introitus
• Vulval CA can develop in 5% of cases  biopsy is important to exclude carcinoma and to confirm diagnosis
• Treatment is with ultra-potent topical steroids
VULVAR DYSAESTHESIA (VULVODYNIA) OR THE VULVAL PAIN SYNDROMES

• These are both diagnoses of exclusion as they have no evidence of organic vulval disease  they are divided
into provoked or spontaneous vulvar dysaesthesia  then subdivided into local (vestibular) or generalised
• They are associated with many factors  including
o A history of genital tract infections
o Former use of oral contraceptives
o Psychosexual disorders
• Spontaneous generalised vulvar dysaesthesia describes burning pain  more common in older patients
• Vulvar dysaethesia of the vestibule causes superficial dyspareunia or pain using tampons  more common in
younger women, in whome introital damage must be excluded
• For both conditions, topical agents are seldom helpful  oral drugs (gabapentin or amitriptyline) are
sometimes used
INFECTIONS OF THE VULVA AND VESTIBULE

• Infections that may affect the vulva
o Herpes simplex
o Vulval warts
o Syphilis
o Donovanosis
• Candidiasis may affect the vulva if there has been prolonged exposure to moisture  more common in
diabetes, obesity, pregnancy, immunocompromised or when antibiotics are being used  presents with
irritation and soreness of the vulva and anus rather than discharge  prolonged topical or oral anti-fungal
therapy may be necessary
BARTHOLIN’S GLAND CYST AND ABSCESS

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• The two glands behind the labia minora secrete lubricating mucus for coitus  blockage of the duct causes
cyst formation
• If infection occurs an abscess forms  commonly caused by Staphlococcus or E.Coli
• This is acutely painful  a large tender red swelling is evident
• Treatment is with incision and drainage  marsupialisation may also be used – where the incision is sutured
open to reduce risk of reformation
INTROITAL DAMAGE
• Commonly follows childbirth  caused by overtightening, incorrect apposition at perineal repair or extensive
scar tissue  commonly presents with superficial dyspareunia  symptoms often resolve with time
• If the introitus is too tight  vaginal dilators or surgery (Fenton’s repair) are used
VAGINAL CYSTS
• Congenital cysts commonly arise in the vagina  they have a smooth white appearance and can be as large as
a golf ball  often mistaken for a prolapse
• Do not often cause symptoms  but if there is dyspareunia they should be excised
VAGINAL ADENOSIS
• Vaginal adenosis is when columnar epithelium is found in the vagina  which is normally squamous
epithelium
• Commonly occurs in women whose mothers received diethylstilboestrol (DES) in pregnancy, when it is
associated with genital tract abnormalities  women with DES exposure in utero are screened annually by
colposcopy
• Spontaneous resolution is usual  can very occasionally turn malignant (clear cell CA of the vagina)  it may
also occur secondarily to trauma
PREMALIGNANT DISEASE OF THE VULVA (VIN)

• Vulval intraepithelial neoplasia (VIN)  presence of atypical cells in the vulval epithelium  divided into two
types depending on its histopathological characteristics
USUAL TYPE VIN

• Nearly all VIN is usual type  can be warty, basaloid or mixed  more common in women aged 35-55
• It is associated with
o HPV (16)
o CIN
o Cigarette smoking
o Chronic immunosuppression
• May be multifocal, but appearance can vary widely  red, white or pigmented  plaques, papules or patches
 erosions, nodules, wart or hyperkeratosis  associated with warty or basaloid SCC
DIFFERENTIATED TYPE VIN

• Rarer than usual type  can be associated with lichen sclerosis  commoner in older women
• The lesion is usually unifocal  ulcer or plaque formation  linked to keratinising SCC of the vulva
• The risk of progression to cancer is high than for usual type VIN
SYMPTOMS AND TREATMENT

• Pruritus or pain is common  emollients or a mild topical steroid may help
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• Gold standard is local surgical excision to relieve symptoms, confirm histology and exclude invasive disease 
15% of women having excision have unrecognised invasive disease  if conservative or medical treatment is
used, adequate biopsies must be taken
CARCINOMA OF THE VULVA

• Vulval CA accounts for 5% of genital tract cancers  up to 1200 new cases each year in the UK and 400
deaths  most common >60yrs
• 95% of vulval malignancies are SCC  melanomas, BCCs, adenocarcinomas and others (sarcomas) account for
the rest
• Carcinoma often arises de novo, even though VIN is a premalignant stage  it is also associated with
o Lichen sclerosis
o Immunosuppression
o Smoking
o Paget’s disease of the vulva
• Presents with pruritus, bleeding or discharge  often present late as lesions go unnoticed or cause
embarrassment
• Examination will reveal an ulcer or mass  most common on the labia majora or clitoris  inguinal LN may
be enlarged, hard and immobile
• 50% of patients present with stage 1 disease  spreads locally and via lymph drainage  spread is to
superficial and then deep inguinal nodes, then to femoral and external iliacl nodes
• Staging is surgical and histological
TREATMENT
• Stage 1a  wide local excision without inguinal lymphadenectomy  risk of spread is negliable
• Other stages  for women with unifocal squamous cancers of <4cm, with no clinical or radiological suspicion
of LN metastasis a sentinel lymph node biopsy (SLNB) may be used  a radioactive isotope +/- blue dye is
injected around the tumour site and any sentinel node is biopsied for metastasis  if no sentinel node is
found  inguinofemoral lymphadenectomy is considered
• If SLNB is not indicated or available or SLNB is +ve  wide local excision and groin lymphadenectomy is
performed  eg. triple incision radical vulvectomy  complications include
o Wound breakdown
o Infection
o Leg lymphoedema
o Lymphocyst formation
o Sexual & body image problems
• Radiotherapy may be used to shrink large tumours prior to surgery, post-operatively if groin lymph +ve or
palliatively to treat severe symptoms
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• Reconstructive surgery involving plastics is considered where a major resection is planned
• Many of these patients die from other diseases related to their age  5yr survival in stage 1 in >90% and
stage 3-4 is 40%
MALIGNANCIES OF THE VAGINA

• Secondary vaginal carcinoma  common and arises from local infiltration from cervix, endometrium, vulva or
metastatic spread from cervix, endometrium or gastrointestinal tumours
• Primary carcinoma of the vagina  accounts for 2% of genital tract malignancies  often older women and is
usually SCC  presents with bleeding, discharge and a mass/ulcer is evidence  treatment is with
intravaginal radiotherapy or radical surgery  average 5yr survival is 50%
• Clear cell adenocarcinoma of the vagina  normally rare complication affecting the daughters of women
prescribed DES during pregnancy during 1950-70s  radical surgery and radiotherapy  survival rates are
good
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PROLAPSE OF THE UTERUS AND VAGINA

• Prolapse  the descent of the uterus +/- vaginal walls beyond normal anatomical confines  occurs as a
result of weakness in supporting structures  extremely common and present in most older parous women
ANATOMY AND PHYSIOLOGY OF THE PELVIC SUPPORT
• Uterus and vagina are suspended from pelvic side wall by endopelvic fascial attachment that supports the
vagina at three levels
o Level 1  the cervix and upper ⅓ of vagina are supported by the cardinal (transverse cervical) and
uterosacral ligament  these are attached to the cervix and suspend the uterus from the pelvic side
wall and sacrum, respectively
o Level 2  the mid-portion of the vagina is attached by endofascial condensation (endopelvic fascia)
laterally to the pelvic side walls
o Level 3  the lower ⅓ of vagina is supported by levator ani and the perineal body  which forms the
pelvic floor/diaphragm
PROLAPSE
TYPES OF PROLAPSE
• Urethrocoele  prolapse of the lower anterior vaginal wall, involving the urethra only
• Cystocoele  prolapse of upper anterior vagina wall, involving the bladder  often there is an associated
prolapse of the urethra (cystourethrocoele)
• Apical prolapse  prolapse of the uterus, cervix and upper vagina  if the uterus has been removed, the
vault or top of the vagina can prolapse
• Enterocoele  prolapse of the upper posterior wall of the vagina  resulting pouch usually contains loops of
small bowel
• Rectocoele  prolapse of the lower posterior wall of the vagina, involving the anterior wall of the rectum
GRADING OF PROLAPSE
Baden-Walker Classification
Stage 0 No descent of pelvic organs during straining
Stage 1 Leading surface of prolapse does not descend below 1cm above the hymenal ring
Stage 2 Leading edge of prolapse extends from 1cm above to 1cm below the hymenal ring
Stage 3 Prolapse extends 1cm or more below the hymenal ring but without complete vaginal eversion
Stage 4 Vagina completely everted (complete procidentia)
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AETIOLOGY OF PROLAPSE
• Attentuation of the vaginal support mechanism may occur as a result of one of the following causes
• Vaginal delivery & pregnancy  prolapse is uncommon in nulliparous owmen  vaginal delivery can casue
mechanical injuries and denervation of the pelvic floor  these risks are increased in large infants, prolonged
2nd stage and instrumental delivery
• Congenital factors  abnormal collagen metabolism (eg. Ehlers-Danlos syndrome) can predispose to prolapse
• Menopause  incidence increases with age  thought to be due to deterioration of collagenous connective
tissue that occurs following oestrogen withdrawal
• Chronic predisposing factors  prolapse is aggravated by any chronic increase in intra-abdominal pressure 
such as obesity, chronic cough, constipation, heavy lifting or pelvic mass
• Iatrogenic factors  pelvic surgery may influence occurrence of urogenital prolapse
CLINICAL FEATURES
• Symptoms are often absent  possible symptoms include a dragging sensation or sensation of a lump, usually
worse at the end of the day or when standing up
• Severe prolapse interferes with intercourse, may ulcerate and cause bleeding or discharge
• A cystourethrocoele can cause urinary frequency and incomplete bladder emptying  stress incontinecen is
common, but may be incidental
• A rectocoele often causes no symptoms  but occasionally causes difficulty in defaecating
• Examination should include abdominal examination to exclude pelvic masses  large prolapses may be visible
from the outside  Sims’ speculum allows separate inspection of the anterior and posterior vaginal walls
• Diagnosis is made clinically  urodynamic testing is required if urinary incontinence is the principal compliant
MANAGEMENT
• If asymptomatic women should be reassured and advised to avoid treatment  should only be treated if
symptoms are impacting significantly on quality of life
• Weight reduction is often appropriate  smoking is discourage  physiotherapy may help mild-to-moderate
degress of prolapse and reduce stress incontinence associated with it
• Pessaries  used in women who are unwilling or unfit for surgery  act as an artificial pelvic floor, so place in
the vagina behind the pubic symphysis and in front of the sacrum  ring pessary is most commonly used, but
shelf pessary is better in severe prolapse  changed every 6-9 months, but post-menopausal women may
require oestrogen (cream or HRT) to prevent vaginal ulceration  complications include pain, urinary
retention, infection or may fall out
• Surgery  synthetic meshes are used for sacrocolpopexy, hysteropexy and some vaginal operations  it
reinforces weak connective tissue, reducing recurrent prolapse risk  complications can occur particularly if
inserted through a vaginal incision – mesh extrusion or erosion (mesh protrudes through the vagina)
• Uterine prolapse
o Vaginal hysterectomy  traditional surgical treatment, but 40% of women present with subsequent
vaginal vault prolapse
o Hysteropexy (open or laparoscopic)  uterus and cervix are attached to the sacrum using a
bifurcated non-absorbable mesh  restores the length of the vagina without compromising the
calibre
• Vaginal vault prolapse
o Sacrocolpopexy (open or laparoscopic)  fixes the vault to the sacrum using mesh  complications
include mesh erosion and haemorrhage
o Sacrospinous fixation (vaginally)  suspends the vault to the sacrospinous ligament  complications
include nerve or vessel injury, infection and buttock pain  less effective, but recovery is faster
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• Vaginal wall prolapse  anterior or posterior ‘repairs’ are used for the relevant prolapse  several prolapses
may occur in one patient  these operations are often combined
• Surgery for urodynamic stress incontinence  tension-free vaginal tape (TVT) or transobturator tape (TOT)
procedures may be performed at the same time as prolapse repair
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DISORDERS OF THE URINARY TRACT

ANATOMY AND FUNCTION OF THE FEMALE LOWER URINARY TRACT SYSTEM
• The bladder has a smooth muscle wall (detrusor)  stores ~500ml of urine, although the first urge to void is
felt at 200ml  drained by the urethra (4cm long), which has a muscular wall and an external orifice in the
vestibule just above the vaginal introitus
• Parasympathetic NS aids voiding  sympathetic NS prevents it  ‘micturition reflex’ is controlled at the level
of the pons, but the cerebral cortex modifies the reflex and can relax or contract the pelvic floor and striated
muscles of the urethra
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CONTINENCE
• Continence is dependent on the pressure in the urethra being greater than
that in the bladder  bladder pressure is influenced by detrusor pressure
and intra-abdominal pressure  urethral pressure is influenced by the
inherent urethral muscle tone and external pressure (pelvic floor)
• The detrusor muscle is expandable  as the bladder fills there is no
increase in pressure
• Coughing does not normally alter the pressure difference and does not
lead to incontinence as both the bladder and upper urethra are in the
abdomen
• Micturition occurs when the bladder pressure exceeds the urethral
pressure  this is achieved voluntarily by a simultaneous drop in urethral
pressure and an increase in bladder pressure due to a detrusor muscle
contraction
INCONTINENCE
• Uncontrolled increases in detrusor pressure  increasing bladder pressure beyond that of the normal urethra
 ‘overactive bladder’ or urge incontinence is the most common cause of this
• Increased intra-abdominal pressure  transmitted to bladder, but not the urethra because the upper urethra
neck has slipped from the abdomen  stress incontinence in the most common cause of this
INVESTIGATIONS OF THE URINARY TRACT

• Urine dipstick test  tests for blood, glucose, protein, leucocytes and nitrites
o Nitrites  infection, so sample should be sent for MC&S
o Glycosuria  suggests diabetes
o Haematuria  suggests bladder CA, calculi or infection
• Urinary diary  keeps a record for a week of time and volume of fluid intake and micturition
• Postmicturition USS or catherisation  exclude chronic retention of urine
• Urodynamic studies, cystometry  necessary prior to surgery for stress incontinence or for women with
overactive bladder symptoms that do not respond to medical treatment  cystometry measure pressure in
the bladder whilst it is filled and a pressrre transducer in the rectum measures abdominal pressure, so the
true detrusor pressure can be calculated by subtracting the two pressures
o Leaking with coughing, but no detrusor contraction  urodynamic stress incontinence
o Involuntary detrusor activity  detrusor overactivity
• Ultrasonography  excludes incomplete bladder emptying, checks for congenital abnormalities, calculi,
tumours and detects cortical scarring of the kidneys
• AXR  diagnoses conditions such as foreign body and calculi
• CT urogram  contrast allows integrity and route of the ureter to be examined
• Methylene dye test  blue dye is instilled into the bladder  leakage from places other than the urethra can
be seen  eg. fistulae
• Cystoscopy  excludes tumours, stones, fistulae and interstitial cystitis, but gives little indication of bladder
performance
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URINARY STRESS INCONTINENCE

• Urinary stress incontinence  complaint of involuntary leakage of urine on effort of exertion, or on sneezing
or coughing  diagnosis on urodynamic studies, but can only be confirmed after overactive bladder is
excluded using cystometry
• Stress incontinence accounts for 50% of causes of incontinence in females  occurs to varying degress in
more than 10% of all women
• Important causes of stress incontinence include
o Pregnancy & vaginal delivery
o Prolonged labour & instrumental delivery
o Obesity
o Age  particularly post-menopause
• Prolapse commonly coexists, but is not always related  previous hysterectomy may predispose to USI
• In normal women, the bladder neck is equally compressed when intra-abdominal pressure rises, so the
pressure difference in unchanged  however, if the bladder neck has slipped below the pelvic floor because
its supports are weak, it will not be compressed and its pressure remains unchanged  if the rest of the
urethra and the pelvic floor and unable to compensate, the bladder pressure exceed the urethral pressure
and incontinence results
• Common clinical features
o Frequency
o Urgency
o Urge incontinence
• Conservative management  aimed at strengthening the pelvic floor as a 1st line treatment for at least 3
months and is taught by a physiotherapist  the strength of the pelvic floor muscle contraction should be
digitally assessed before treatment  exercises should consist of at least 8 contraction, 3 times a day 
vaginal ‘cones’ can be inserted into the vagina and held in position by voluntary muscle contraction,
increasing sizes are used as muscle strength increases
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• Drug management  duloxetine (SNRI) is the only licensed drug for the treatment of moderate-to-severe USI
 it enhances urethral striated sphincter activity via a centrally mediated pathway  nausea is the most
frequent reported side effect (25%), but others include dyspepsia, dry mouth, dizziness, insomnia or
drowsiness  not recommended by NICE for routine use
SURGICAL MANAGEMENT
• Surgery is considered when conservative measures have failed and the women’s quality of life is
compromised  1st line is ‘mid-urethral sling’ procedures with a cure rate of 90%  complications include
bladder perforation, post-operative voiding difficulty, bleeding, infection, de novo detrusor overactivity and
suture or mesh erosion
• Tension-free vaginal tape (TVT)  a synthetic polypropylene tape is placed in a U shape under the mid-urethra
via a small vaginal anterior wall incision  the tension is then adjusted to prevent leakage as the women
coughs  cystourethroscopy is performed to ensure that there has been no damage to the bladder or
urethra  it is minimally invasive and most women can return to normal activity within a few weeks
• Transobturator tape (TOT)  similar to TVT but a different insertion technique is used  the tape is passed
via the transobturator foramen, through the transobturator and puborectalis muscles  unlike TVT the
retropubic space is not entered, so bladder perforation is rare
• Injectable periurethral bulking agents  have a lower immediate success rate (40-60%), cure rates are low
(<20%) and there is also long-term continued decline in continence  however, the procedure has low
morbidity and injections can be performed under local anaesthetic  appropriate in women who have not
yet completed childbirth, in the frail elderly and when previous surgery has failed
OVERACTIVE BLADDER
• Overactive bladder  defined as urgency with or without urge incontinence  usually with frequency or
nocturia, in the absence of proven infection  the symptom combinations are suggestive of detrusor
overactivity, but can be due to other forms of urinary tract dysfunction
• Detrusor overactivity  a urodynamic diagnosis characterised by involuntary detrusor contractions during the
filling phase, which may be spontaneous or provoked by coughing
• Overactive bladder causes 35% of cases of female incontinence
• It is most commonly idiopathic  can follow operations for USI (bladder neck obstruction)  occasionally
due to involuntary detrusor contractions, occurring in the presence of underlying neuropathy, such as MS or
SCI
• Detrusor contraction is normally felt as urgency  if strong enough it causes bladder pressure to overcome
urethral pressure and the patient leaks (urge incontinence)
• Signs and symptoms
o Urgency and urge incontinence
o Frequency
o Nocturia
o Stress incontinence is common
o Leak at night or at orgasm
o Hx of childhood enuresis is common
• A urinary diary will show frequent passage of small volumes of urine, particularly at night  may show high
intake of caffeine-containing drinks
• Cystometry is only indicated if lifestyle changes and drug management have been ineffective, or if surgery for
stress incontinence is considered
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MANAGEMENT
• Advice
o Reduce fluid intake
o Avoid caffeinated products
o Review diuretics and anti-psychotics
• Bladder training consists of education, timed voiding with systematic delay in voiding and positive
reinforcement  the patient is asked to resist the sensation of urgency and void according to a timetable 
should last for at least 6 weeks, often in combination with anti-cholinergic therapy
• Drug management
o Anti-cholinergics  suppress detrusor overactivity by blocking muscarinic receptors that mediate
smooth muscle contraction, allowing the detrusor to relax  side effects include a dry mouth
o Sympathomimetics (eg. Mirabegron)  recently been licensed as bladder anti-spasmodic and has not
cholinergic side effects  should be considered in anti-cholinergics are poorly tolerated 
association with hypertension, so BP must be measured
o Oestrogens  vaginal oestrogen administration reduces symptoms of urgency, urge incontinence,
frequency and nocturia in post-menopausal women
o Botulinum toxin A  blocks NMJ causing affected muscle to become weak  injected into detrusor
muscle at different locations  cure or improvement rates of 60-90% at 3 weeks to 12 month follow
up, with a duration of 6 months after one dose  most common complication is voiding dysfunction
and urinary retention (5-20%)
• Neuromodulation and sacral nerve stimulation  provides continuous stimulation of the S3 nerve root via an
implanted electrical pulse generator  improve the ability to suppress detrusor contractions  treatment is
appropriate for refractory detrusor overactivity and has 30-50% success rate
OTHER URINARY DISORDERS

MIXED USI AND OVERACTIVE BLADDER
• This accounts for 10% of all cases of incontinence  the diagnosis is made at cystometry
ACUTE URINARY RETENTION

• The patient is unable to pass urine for ≥12hrs  catherisation producing as much or more urine than the
normal bladder capacity
• It is painful  except when due to epidural anaesthesia or failure of the afferent pathways
• Causes include
o Childbirth  particularly with an epidural
o Vuval or perineal pain  eg. herpes simplex
o Surgery
o Drugs  eg. anti-cholinergics
o Retroverted gravid uterus
o Pelvic masses
o Neurological disease  eg. MS or CVA
• Catherisation is maintained for 48hrs whilst the cause is treated
CHRONIC RETENTION AND URINARY OVERFLOW

• Accounts for 1% of cases of incontinence  leaking occurs because bladder overdistension eventually causes
overflow  can be due to either urethral obstruction or detrusor inactivity
• Causes
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o Urethral obstruction
▪ Pelvic masses
▪ Incontinence surgery
o Detrusor inactivity
▪ Autonomic neuropathies  eg. diabetes
▪ Previous overdistension of bladder  eg. epidural anaesthesia
• Presentation may mimic stress incontinence or urinary loss may be continuous  examination reveals a
distended non-tender bladder
• Diagnosis is confirmed by ultrasound or catherisation after micturition  intermittent self-catherisation is
commonly required
PAINFUL BLADDER SYNDROME AND INTERSTITIAL CYSTITIS

• Painful bladder syndrome (PBS) is a condition in which the patient experiences suprapubic pain related to
bladder filling  accompanied by other symptoms (frequency) in the absence of UTI or other obvious
pathology
• The diagnosis of interstitial cystitis is confined to patients with painful bladder symptoms who have
characteristic cystoscopic and histological features
• Treatment includes
o Dietary changes o Analgesics
o Bladder training o Intravesical infusion of various drugs
o Tricyclic antidepressants
FISTULAE
• Abnormal connection between urinary tract and other organs  most common is vesciovaginal and
urethrovaginal  common in obstructed labour (developing world) or due to surgery, radiotherapy or
malignancy in the West (rare)
• Investigation is with a CT urogram or cystocopy
• Surgery is usually required  though may resolve spontaneously
ENDOMETRIOSIS AND CHRONIC PELVIC PAIN

ENDOMETRIOSIS
DEFINITION AND EPIDEMIOLOGY
• Endometriosis  the presence and growth of tissue similar to endometrium outside the uterus
• 1-2% of women are diagnosed as having endometriosis  particularly between the 30-45yrs  most
common in nulliparous women
• Endometriotic lesions may occur in 1-20% of all women, asymptomatically
PATHOLOGY
• Endometriosis is oestrogen dependent  it regresses after the menopause and during pregnancy
• It can occur throughout the pelvis, particularly in the uterosacral ligaments and on/behind the ovaries  it
can also affect the umbilicus, abdominal wound scars, the vagina, bladder, rectum and even the lungs & brain
(rare)
• Accumulated altered blood is dark brown  forms a ‘chocolate cyst’ or endometrioma in the ovaries
• Endometriosis causes inflammation, with progressive fibrosis and adhesions  in its most severe form, the
entire pelvis is ‘frozen’ and the pelvic organs rendered immobile by adhesions
AETIOLOGY
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• Endometriosis in the pelvis is thought to be a result of retrograde menstruation  more distant foci may
result from mechanical, lymphatic or blood-bourne spread
• Retrograde menstruation is common, but not always associated with endometriosis  individual factors
appear to determine whether the endometrium implants and grown
• Affected women have an impaired immune system  endometriosis deposits show evidence of both neuro-
and angiogenic activity  leading to increased density of adjacent nerve fibres, hence pain
• Genetic linkage studies suggest a degree of inherited predisposition
• A new popular theory is that endometriosis is the result of metaplasia of coelomic cells
CLINICAL FEATURES
• It is an important cause of chronic pelvic pain and usually cyclical  but may be asymptomatic
• Presenting complaints include
o Dysmenorrhoea before the onset of menstruation
o Deep dyspareunia
o Subfertility
o Pain on passing stool (dyschezia) during menses
o Menstrual problems
• Rupture of endometriosis ovarian cysts is uncommon  but associated pain by the first symptom
• Cyclical haematuria, rectal bleeding or bleeding from the umbilicus are uncommon  suggest severe disease
• On examination it is common to find tenderness and/or thickening behind the uterus or in the adnexa
• In advanced cases the uterus is retroverted and immobile (adhesions)
• With mild endometriosis, the pelvis often feels normal
INVESTIGATIONS
• Laparoscopy  diagnosis is only made with certainty after visualisation ± biopsy  active lesions are red
vesicles or punctate marks on the peritoneum  white scars or brown spots (‘powder burn’) represent less
active endometriosis  while extensive adhesions and ovarian endometriomas indicate severe disease
• Tranvaginal USS  excludes the diagnosis of an ovarian endometrioma  may also suggest the presence of
adenomyosis
• MRI ± intravenous pyelogram & barium study  peritoneal endometriosis will not be visualised on USS, but
may be on MRI  used if there is clinical evidence of deeply infiltrating endometriosis, ureteric, bladder or
bowel involvement
MANAGEMENT
• Asymptomatic endometriosis does not require treatment  although consideration should be given to
removing endometriomas in view of the risk of misdiagnosis ovarian cancer
• Pain may be treated with hormonal drugs to suppress ovarian activity and is appropriate without a definitive
diagnosis  some women want to avoid hormone therapy and can manage pain with NSAIDs
• Medical management  hormonal treatment mimics pregnancy, menopause or is androgenic  symptom
recurrence is common following medical treatment
o COCP  widely used and highly accepted  not suitable for older women or smokers  often used
back-to-back to reduce frequency of painful withdrawal bleeds
o Progestogens  used on a cyclical or continuous basis  generally well tolerated, but side effects
include fluid retention, weight gain, erratic bleeding and PMS-like symptoms
o GnRH analogues  act by inducing a temporary menopausal state via negative feedback  side
effects mimic the menopause  reversible bone demineralisation limits therapy to 6 months,
although it can be used for up to 2yrs with add-back HRT
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o Danazol & gestrinone  synthetic compounds with androgenic effects  seldom used because of
severe side effects
o IUS  alternative to systemic hormone treatment  reduces pain, especially dysmenorrhoea 
gives symptom control over 3-5yrs dependent on type used
• Surgical management
o Scissors, laser or bipolar diathermy  used laparoscopically at the time of diagnosis to destroy
endometriotic lesion  surgery may also improve conception rates, so is preferable to medical
treatment for women with endometriosis-related pain and infertility
o Radical surgery  dissection of adhesions, removal of endometriomas and even hysterectomy with
bilateral salpino-oophorectomy (BSO)
FERTILITY
• Endometriosis is found in 25% of laparoscopies foes investigation of subfertility  the more severe the
endometriosis, the greater the chance of subfertility
• If the fallopian tubes are not affected  medical treatment will not increase fertility, but laparscopic excision
or ablation of deposits may
• Drainage and stripping of ovarian endometrioma cysts improves fertility  compared to drainage and cyst
wall ablation
• With severe disease affecting the fallopian tubes  surgery has limited benefit and IVF is the best option
CHRONIC PELVIC PAIN

DEFINITION
• Chronic pelvic pain is defined as intermittent or constant pain in the lower abdomen or pelvis of at least 6
months’ duration  not occurring exclusively with menstruation or intercourse
• CPP presents in primary care as often as migraine or low back pain  affects 15% of adult women  it carries
heavy social and economic price
ASSESSMENT AND INVESTIGATION

• There is frequently more than one component of the pain  a full history will prevent non-gynaecological
diagnoses being missed  psychological evaluation is helpful in some patients
• Possible investigations  transvaginal USS, MRI or laparoscopy as appropriate
POSSIBLE CAUSES OF PAIN

• Pelvic pain that varies considerably over the menstrual cycle may be due to hormonally drive gynaecological
conditions  including endometriosis or adenomyosis  there may adhesions and ovarian tissue can become
trapped within them causing cyclical pain  treated by oophorectomy and adhesiolysis
• Symptoms suggestive of irritable bowel syndrome or interstitial cystitis are often present in women with CPP
 these conditions may be a primary cause or a component of the pain
• Psychological factors  depression and sleep disorders are common  a substantial number give a history of
sexual or physical abuse
MANAGEMENT
• Women with cyclical pain should be offered a therapeutic trial of COCP or GnRH analogues with add-back HRT
for a period of 3-6months before having a diagnostic laparscopy if the pain is unresolved  progestogens and
IUS should also be considered
• Counselling and psychotherapy are useful and pain management programmes involve relaxation techniques,
sex therapy, diet and exercise
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• Even if no explanation for the pain can be found  attempts should be made to treat the pain empirically and
to develop a management plan in partnership with the women  drugs such as amitriptyline and gabapentin
may be used to manage the pain
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GENITAL TRACT INFECTIONS

• The vagina in a women’s of reproductive age is
o Lined by squamous epithelium
o Colonised by bacterial flore  lactobacilli
o Acidic pH  <4.5
• In prepubertal and post-menopausal women  lack of oestrogen results in
o Thinner epithelium
o Higher pH  6.5-7.5
o Reduced resistance to infection
INFECTIONS OF THE VULVA AND VAGINA

BACTERIAL VAGINOSIS
• Most common cause of vaginal discharge in women of reproductive age  associated with a loss of
lactobacilli and increase of anaerobic and highly specific BV-associated bacteria in the vagina
• The bacteria produce proteolytic enzymes  these break down vaginal peptides into volative, malodorous
amines
• Rise in pH facilitates adherence of G.vaginalis (90%) and Atropbium vaginae to exfoliating epithelial cells 
allows development of a biofilm, which adheres to the epithelium
• A grey-white discharge is present with a characteristic fishy odour  but no Vulvovaginitis
• Diagnosis  established by
o Raised vaginal pH
o Typical discharge
o Positive ‘whiff’ test  fishy odour when 10% potassium hydroxide is added to secretion
o Presence of ‘clue cells’ on microscopy  epithelium with Gram-variable coccobacilli
• Treatment  metronidazole or clindamycin cream
• These bacteria can cause secondary infection in pelvic inflammatory disorder (PID)  there is also an
association with preterm labour
CANDIDIASIS
• Candida spp  a yeast like fungus is identified in the lower genital tract in
o 10-20% of healthy women of reproductive age
o 6-7% of menopausal women  higher if taking HRT
o 3-6% of prepubertal girls
• Symptomatic candidiasis is due to a hypersensitivity response to commensal  up to 50% of women report at
least one symptomatic lifetime episode  most are due to C.albicans  prengnancy, diabetes and use of
antibiotics are risk factors
• Recurrent candidiasis is more common in the immunocompromised and in patients with uncontrolled
diabetes
• The classical symptoms are ‘cottage cheese’ discharge with vulval irritation and itching  superficial
dyspareunia and dysuria may occur  vagina +/- vulva can be inflamed and red
• Diagnosis & treatment  culture and topical imidazoles (eg. clotrimazole pessary) or oral fluconazole
OTHER NON-STIS
• Toxic shock syndrome  rare complication of the retained tampon  a toxin producing Staphylococcus
aureus is responsible  presents with high fever, hypertension and multisystem organ failure  treatment is
with antibiotics and intensive care
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RISK FACTORS FOR ACQUISITION OF STIS
• Number of partners  +2 partners in last 6 months, new partner in the last 3 months or concurrent partner
• Non-use of condoms  condoms greatly reduce the risk of blood-borne visues (gonorrhoea & chlamydia), but
are less effective against warts & herpes
• Other STIs  including STI (or symptoms) in partner and previous STI
• Young age  under 20 years a strong risk factor
• Sexual preference  men who have sex with men
PRINCIPLES OF MANAGEMENT OF STIS

• Screening  for concurrent infection is important because more than one STI may be present
• Partner notification  involves identification and contacting recent sexual contacts for screening and
treatment  reduce the risk of complications in partners and onward transmission
• Confidentiality  doctor is breaching confidentiality if they inform sexual contacts of the patients diagnosis
without their permission
• Education  deliver health promotion to reduce the risk of reinfection and onward transmission
CHLAMYDIA
• Caused by Chlamydia trachomatis (bacteria)  most common sexually transmitted bacterial organism in
developed world  3% of 18-24y/o in UK have Chlamydia at any one time
• More than 70% of infected women have no genital symptoms  most common symptoms include
o Altered vaginal discharge
o Intermenstrual bleeding
o Post-coital bleeding
o Low abdominal pain
o Dyspareunia
• The principal complication is pelvic infection  which may also be silent  can cause tubal damage leading to
subfertility and/or chronic pelvic pain
• Chlamydia infection may precipitate sexually active reactive arthritis (SARA)  characterised by a triad
o Urethritis
o Conjunctivitis
o Arthritis
• Diagnosis  Nucleic acid amplification test (NAATs) on vaginal swab or urine
• Treatment  azithromycin or doxycycline
GONORRHOEA
• Caused by Neisseria gonorrhoeae (Gram –ve diplococcus)  common, particularly in developing world
• Men usually develop urethritis  women are commonly asymptomatic, but can have
o Vaginal discharge
o Urethritis
o Bartholinitis
o Cervicitis
o Pelvic infection
• Systemic complications are rare  include bacteraemia and acute septic arthritis (monoarticular)
• Diagnosis  NAATs of endocervical or vulvovaginal swabs  +ve NAAT should be followed by culture to
check antibiotic sensitivities
• Treatment  if not resistant quinolones, azithromycin or cefixime  IM ceftriazoe is usually required in
combination
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GENITAL WARTS
• Caused by human papilloma virus (HPV)  pass through close physical contact, almost always genital for
genital warts
• Many people have subclinical infection  so no obvious warts, but may transmit disease
• External genital warts  HPV 6&11  rarely associated with sever dysplasia  do not cause genital or anal
cancer
• Certain oncogenic types (16&18) are associated with developing CIN
• Common sites for warts  may be hard, soft, solitary, multiple and may be pigmented  may itch
o Vulva
o Perianus
o Cervix
o Vagina
• Diagnosis  clinical judgement
• Treatment  not able to eradicate the virus  no treatment possible as warts may regress  still infective
even if warts are absent  possible treatments include
o Chemical application  podophyllin, podophyllotoxin, trichloroacetic acid solution or imiquimod
o Physical ablation  cryotherapy
• There is a high recurrence rate (25%)  vaccine against HPV is now administered to adolescent girls to
prevent cervical neoplasia
GENITAL HERPES
• Both HSV-1 & 2 can affect genital and anal area  HSV-1 causes cold sores, but can cause genital herpes (oral
sex)
• Most people have no visible signs or symptoms  1 in 3 will experience a primary infection within 4-14 days
of becoming infected  may feel generally unwell with flu-like symptoms  often followed by stinging or
itching in the genital or anal area  small vesicles then occur, which burst within a day or two and will crust
over and eheal
• Local lymphadenopathy and dysuria is common  secondary bacterial infection, aseptic meningitis or acute
urinary retention are rare
• Virus can lie dormant in dorsal root ganglion  reactivations may occur  a patient with HSV-2 will have 4-6
recurrences each year  people with HSV-1 will have infrequent recurrence  recurrences are usualy much
milder and clear quicker
• Normally, tingling sensation or mild flu-like symptoms before an outbreak
• Treatment  aciclovir used in severe infections and will reduce duration of symptoms if started early in
reactivation
• Neonatal herpes has high mortality  can be prevented
SYPHILIS
• Caused by Treponema pallidum (spirochaete)  common in developing world, but uncommon in UK although
incidence is rising
• Sexual transmission occurs in the first 2 years of untreated infection  although transmission to the foetus
may occur up to 10yrs after primary infection
• Primary or secondary syphilis during pregnancy carries a high risk of congenital infection
• Primary syphilis  characterised by a solitary painless genital ulcer (chancre)
• Secondary syphilis  untreated primary  develops weeks later, often with a rash, flu-like symptoms and
warty genital/perioral growths (condylomata lata)  systemic vasculitis and can manifest in organs
o Hepatitis
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o Uveitis
o Alopecia
• Latent syphilis  when symptoms from secondary syphilis resolve without treatment
• Tertiary syphilis  very rare  develops many years after initial infection and virtually any organ can be
affected  possible complications
o Aortic regurgitiation
o Dementia
o Tabes dorsalis
o Gummata in skin & bone
• Diagnosis  syphilis enzyme immunoassay and Venereal Disease Research Laboratories (VDRL) tests
• Treatment  all stages treated with parenteral (IM) penicillin
TRICHOMONIASIS
• Caused by Trichomonas vaginalis (flagellate protozoan)  very prevalent worldwide, but uncommon in UK
• Typical symptoms
o Offensive grey-green discharge 70%
o Vulval irritation
o Dysuria
o Asymptomatic in 50%
• Diagnosis  NAATs  although motile trichomonas will be seen on wet film microscopy in 60% of cases
• Treatment  systemic metronidazole
OTHER STIS CAUSING GENITAL ULCERS

• Chancroid (Haemophilus ducreyi) and lymphogranuloma venereum can cause genital ulceration  rare in UK,
but remain endemic in small areas of the tropics
HIV AND AIDS

• Caused by human immunodeficiency virus (retrovirus) leading to the clinical syndrome acquired immune
deficiency syndrome (AIDS)
• In the UK in 2013, 2.8 per 1000 population aged 15-59 years had HIV  an estimated 59,500 people are living
with HIV in 2013 in the UK had acquired their infection though heterosexual contact
• Seroconversion is often accompanied by an influenza-like illness with a rash and lymphadenopathy  but
most HIV +ve women are asymptomatically infected  can remain fit, healthy and infectious for many years
• HIV infection caused depletion of CD4 cells  eventually puts patients at risk of opportunistic infections and
tumours  early deterioration may be associated with
o Chronic skin problems
o Recurrent oral candida
o Fever
o Generalised lymphadenopathy
• CIN is more common in affected women  yearly smears are recommended
• Genital infections  particularly candidiasis and menstrual disturbances are more common
• Vertical transmission to the foetus is virtually preventable by anti-retroviral therapy  with or without
elective C-section and avoidance of breastfeeding
• Treatment  HAART treatment  considered as a chronic controllable condition in a similar manner to
diabetes
INFECTIONS OF THE UTERUS AND PELVIS

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ENDOMETRITIS
• Infection confined to the uterus  if untreated it commonly spreads to the pelvis
• Often the result of instrumentation in the uterus or a complication of pregnancy  infecting organisms
include
o Chlamydia
o Gonorrhoea
o E.Coli
o Staphylococci
o Clostridia
• It is common after C-section  can also occur after miscarriage or abortion, particularly if some ‘products of
conception’ are retained
• Presents with persistent and heavy vaginal bleeding, usually accompanied by pain  uterus is tender and
cervical os is commonly open  severe sepsis can ensure
• Investigations  vaginal and cervical swabs with FBC  pelvic USS is not reliable
• Treatment  broad-spectrum antibiotics  evacuation of retained products of conception (ERPC) is then
performed if symptoms do not subside or if products can be seen on USS
ACUTE PELVIC INFECTION AND PELVIC INFLAMMATORY DISEASE

• Pelvic inflammatory disease (PID) or salpingitis  endometritis usually coexists  incidence is increasing with
2% of women affected in their lifetime
• Pelvic infection is more common in women with STI risk factors
o Young age
o Multiple sexual partners
o Recent partner change
o Non-use of condoms
• COCP is partly protective, as is IUS  almost never occurs in the presence of a viable pregnancy
• Most commonly caused by ascending infection of bacteria in the vagina and cervic  although can be due to
descending infection from local organs (appendix)
• Spread from previously asymptomatic STIs to pelvis is usually spontaneous  can be the result of uterine
instrumentation and/or complication of childbirth/miscarriage
• Infection is frequently polymicrobial
o Chlamydia (60%) and gonorrhoea are principal STI causes
o Endometritis and uni/bilateral salpingitis and parametritis occur
o Ovaries are rarely involved
• Perihepatitis (Fitz-Hugh-Curtis) affects 10%  causes RUQ pain due to adhesions between liver and anterior
abdominal wall easily visible at laparoscopy
• Many cases have no symptoms and present later with subfertility or menstrual problems  but bilateral
lower abdominal pain with deep dyspareunia is the hallmark, usually with abnormal vaginal bleeding or
discharge
• In severe cases, examination shows tachycardia and high fever, signs of lower abdominal peritonism with
bilateral adnexal tenderness and cervical excitation
• Differentials includes appendicitis, ovarian cyst accidents or ectopic pregnancy
• Investigations
o Endocervical swab  taken for chlamydia and gonorrhoea  blood cultures if fever
o WBC & CRP  may be raised
o Pelvis USS  excludes abscess or ovarian cyst
o Laparoscopy  fimbrial biopsy and cultures is gold standard
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• Treatment  parenteral cephalosporin (IM ceftriaxone), followed by doxycycline and metronidazole or
ofloxacin and metronidazole  febrile patients should be admitted for IV therapy  pelvis abscess may
require draining
• Complications  many women develop tubal obstruction and subfertility, chronic pelvic infection or chronic
pelvic pain  ectopic pregnancy is also x6 more likely after pelvic infection
CHRONIC PELVIC INFLAMMATORY DISEASE

• This is a persisting infection  result of non-treatment, inadequate treatment of acute PID or reinfection
following failure to treat sexual partners
• There are dense pelvic adhesions  fallopian tubes obstructed and dilated with fluid (hydrosalpinx) or pus
(pyosalpinx)
• Common symptoms
o Chronic pelvic pain
o Dysmenorrhoea
o Deep dyspareunia
o Heavy and irregular menstruation
o Chronic vaginal discharge
o Subfertility
• Examination may reveal features similar to endometriosis  abdominal and adnexal tenderness and fixed
retroverted uterus
• Investigation  transvaginal USS may reveal fluid collections within the fallopian tubes or surrounding
adhesions  laparoscopy is the best diagnostic tool  culture is often negative
• Treatment  analgesia and antibiotics if there is active infection  severe cases may require cutting of
adhesions and sometimes removal of affected tubes (salpingectomy)
VAGINAL DISCHARGE
• Normal discharge can range in appearance  mucoid (ovulation) to opaque  increased around ovulation,
during pregnancy and in women on COPC
• Exposure of columnar epithelium in cervical eversion and ectropion may cause discharge  can be treated
with cryotherapy or diathermy once infection has been excluded
• Abnormal discharge is associated with symptoms
o Malodour
o Itch
• May be associated with common infections  eg. BV, trichomoniasis and candidiasis
• Other causes
o Cervicitis
o Aerobic vaginitis
o Atrophic vaginitis
o Mucoid cervical ectopy
o Psychosexual & depression
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FERTILITY AND SUBFERTILITY

• Subfertile  if conception has not occurred after a year of regular unprotected intercourse  15% of couples
are affected  not ‘infertile’ as there is still a monthly chance of conception, even if it is lower than normal 
failure may be primary (never conceived) or secondary (conceived)
• There are four basic conditions required for pregnancy
o Egg production  anovulation (30%)
o Adequate sperm release  male factor (25%)
o Sperm must reach egg  fallopian tubes (25%), sexual (5%) and cervical (<5%)
o Implantation  often unexplained fertility problems (30%)
• NB – more than 100% as more than one cause may be present
DISORDERS OF OVULATION
PHYSIOLOGY OF OVULATION
• AMH is produced from small ovarian follicles and reduces the release of oestrogen
• Beginning of the cycle  low oestrogen due to AMH causes +ve feedback on GnRH to stimulate production of
LH & FSH
• As follicle grows  AMH production reduces  oestrogen levels increase  -ve feedback  reduced LH &
FSH production
• Maturing follicles compete for stimulating hormones  only one is large enough with sufficient receptors to
survive and grow  dominant follicle
• NB – development of dominant follicle is also co-regulated by inhibin B  also suppresses FSH
• Follicle matures  oestrogen output increases  +ve feedback  increases LH & FSH  LH surge = ovulation
• Follicle becomes corpeus lutuem  produces oestrogen & progesterone to maintain secretory endometrium
• If implantation occurs  hCG is produced by trophoblast tissue  acts on corpus luteum to maintain
oestrogen & progesterone production  placental takes over at 8-10 weeks gestation
DETECTION OF OVULATION
• Regular cycles normally means a women is ovulating  vaginal spotting, increased vaginal discharge or pelvic
pain may also occur
• Preovulation  cervical mucus is acellular, will ‘fern’ when on a dry slide and will form ‘spinnbarkeit’ (elastic-
like string)  body temperature normally drops 0.2OC and rises 0.5OC in the luteal phase
• Possible investigations
o Progesterone levels  elevated serum progesterone in mid-luteal phase suggests ovulation  for
women with irregular cycles, repeats progesterone tests may be required
o Ultrasound  serially monitor follicular growth and corpus luteum after ovulation  rarely
performed
o Urine predictor kit  indicates LH surge has taken place  ovulation should follow
POLYCYSTIC OVARIAN SYNDROME (PCOS)

• PCOS is a diagnosis of exclusion  other causes of irregular or absent periods need to be considered and
investigated
• Polycystic ovary (PCO)  a characteristic transvaginal USS appearance of multiple (>12) small (2-8mm)
follicles in an enlarged ovary (>10ml/vol)  found in 20% of all women including those who regularly ovulate
• Polycystic ovarian syndrome (PCOS)  affects around 5% of women and causes 80% of cases of anovulation
infertility  diagnosed when at least 2 out of the following 3 criteria are met
o PCO on USS
o Irregular periods  >35 days apart
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o Hirsutium  clinical (acne/excess body hair) and/or biochemical (raised serum testosterone)
• Pathology  women affected with PCO show disordered LH production and peripheral insulin resistance 
the combination of raised LH and insulin act synergistically on the PCO to increase ovarian androgen
production  raised insulin also acts to increased adrenal androgen production and reduce hepatic steroid
hormone-binding globulin leading to increased free androgens  increased intraovarian androgens leads to
disrupted folliculogenesis and excess small ovarian follicles causing irregular or absent ovulation  raised
peripheral androgens leads to hirsutism
• Clinical features  typical patient is obese, with acne, hirsuitism and oligomenorrhoea/amenorrhoea 
changes in weight over time will alter insulin levels and severity of the syndrome  miscarriage is also more
common and may be related to increased levels of LH and/or insulin and increased body weight
• Investigations
o Blood tests
▪ Anovulation is tested with
• FSH  raised in ovarian failure, low in hypothalamic disorders and normal in PCOS
• AMH  high in PCOS, low in ovarian failure
• Prolactin  excludes prolactinoma
• TSH
▪ Hirsutium is tested with serum testosterone levels  androgen-secreting tumour or
congenital adrenal hyperplasia
▪ LH is measured  often raised in PCOS, but not diagnostic
o USS  transvaginal to look for PCO
o Other  screening for diabetes and abnormal lipids
• Complications  50% of PCOS women develop T2DM in later life  30% develop gestational diabetes, which
is reduced by weight reduction  endometrial CA is more common in women with many years of
amenorrhoea due to unopposed oestrogen
• Treatments
o Advice regarding diet and exercise  reduces insulin levels and therefore PCOS symptoms
o COCP if fertility not required  regulates menstruation and treats hirsutism
o Anti-androgens (cyproterone or spironolactone)  treatment for hirsutism, but must not conceive
o Metformin  reduces insulin levels and therefore hirsutism and promotes ovulation
o Eflornithine  topical anti-androgen used for facial hirsutism
OTHER CAUSES OF ANOVULATION

• Hypothalamic hypogonadism  reduction in GnRH causes amenorrhoea due to reduced FSH & LH levels
causing reduced oestrogen levels  usually with anorexia nervosa and common in women on diets, athletes
and those under stress  restoration of body weight restores hypothalamic function
• Kallman’s syndrome  occurs when GnRH-secreting neurones fail to develop  exogenous gonadotrophins
or GnRH pump will induce ovulation  bone protection with COCP or HRT is required
• Hyperprolactinaemia  excess prolactin secretion leads to reduced GnRH release  usually caused by benign
tumours (adenomas) or hyperplasia of pituitary cells, but can be associated with PCOS, hypothyroidism and
psychotropic drugs  accounts for 10% of anovulatory women who commonly present with
oligomenorrhoea/amenorrhoea, galactorrhoea and headaches or bitemporal hemianopia (pituitary tumour)
 treatment with dopamine agonist (bromocriptine or carbergoline) usually restores ovulation because
dopamine inhibits prolactin release  surgery may be necessary
• Premature ovarian insufficiency  as the ovary fails, oestrogen and inhibin levels fall reducing –ve feedback
on pituitary causing FSH & LH to rise  AMH level produced by resting follicles will be very low, as will the
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antral follicle count on USS  no follicles, so donor eggs are required for pregnancy  bone protection with
HRT or COCP is required
• Gonadal dysgenesis  rare conditions usually present with primary amenorrhoea
• Luteinised unruptured follicle syndrome  present when a follicle develops, but the egg is never released 
unlikely to occur every month, so does not cause persistent problems
• Hypo/hyperthyroidism  reduces fertility and menstrual disturbances are usual
• Androgen-secreting tumours  causes amenorrhoea and virilisation
INDUCTION OF OVULATION
• Treatment of specific cause or restoration of weight  usually leads to restoration of ovulation
• Treatment for PCOS
o Clomifene  1st line ovulation induction drug and usually limited to 6 months’ use, but results in
ovulation and live birth rates of 70% and 40%  it is an anti-oestrogen, so blocks oestrogen receptors
in the hypothalamus and pituitary causing an increase in FSH & LH release  given at days 2-6, so
initiates the process of follicular maturation  response should be monitored for ovarian response
(1st month) and endometrial thickness  if no follicles develop then dose is increase and if >3 develop
then dose is stopped to prevent multiple pregnancies  can cause endometrium thinning affecting
live birth rate, but high ovulation rate
o Metformin  alternative 1st line treatment  taken every day through the cycle in multiple doses,
but GI side effects are common  more efficacious than clomifene in women with a BMI <30 
increases effectiveness of clomifene in women who are clomifene-resistant women, so can be used
jointly as 2nd line  treats hirsutism and if continued through pregnancy reduces the risk of early
miscarriage and gestational diabetes
o Oral aromatase inhibitors (letrozole)  can be used to induce ovulation, resulting in higher live birth
rate than clomifene  may be due to reduced negative effects on the endometrium  not licensed
for fertility treatment and not yet widely used
o Laparoscopic ovarian diathermy  2nd line, but is as effective as gonadotrophins with lower multiple
pregnancy rate  each ovary is monopolar diathermied at a few points for a few seconds  tubal
patency can be tested at the same time and any endometriosis or adhesion treated  if successful
then regular ovulation can continue for years  risks include periovarian adhesion formation and
ovarian failure (rare)
• Gonadotrophin induction is used when 1st line treatments have failed or in hypothalamic hypogonadism (if
weight is normal)  recombinant or purified urinary FSH ± LH act as a substitute for normal pituitary
production by being given daily subcutaneous infections to stimulate follicle growth, with often more than
one follicle maturing  for PCOS patients, a ‘low-dose step-up’ regimen is used with small increment
increased every 5-7 days until the ovaries begin to respond  follicular development is monitored with USS
 once a follicle is of adequate size for ovulation (17mm), the process can be artificially started by injection
of hCG or recombinant LH
• Side effects of ovulation induction
o Multiple pregnancy  more likely with clomifene, letrozole and gonadotrophins as more than one
follicle may mature  multiple pregnancies increased perinatal complications rate
o Ovarian hyperstimulation syndrome (OHSS)  gonadotrophins overstimulate the follicles, which can
get very large and painful  more common during IVF than standard ovulation induction  risk
factors for OHHS include gonadotrophin stimulation, <35yrs, previous OHSS and PCO  prevention is
by lowest effective dose, USS monitoing of follicular growth and withdrawal of gonadotrophins if seen
 in severe cases hypovolaemia, electrolyte disturbance, ascites, thromboembolism and pulmonary
oedema can occur
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o Ovarian and breast carcinoma  evidence is conflicting, but generally reassuring
MALE SUBFERTILITY
PHYSIOLOGY OF SPERM PRODUCTION
• Spermatogenesis in the testis is dependent on pituitary LH & FSH  LH largely acting via testosterone
production in the Leydig cells of testis
• FSH and testosterone control Sertoli cells  which are involved in synthesis and transport of sperm
• Testosterone and other steroids inhibit the release of LH  completing a –ve feedback loop with the HPA
• It takes about 70 days for sperm to develop fully
DETECTION OF ADEQUATE SPERM PRODUCTION

• A normal semen analysis result virtually excludes a male cause of infertility  contributes to 25% of subfertile
couples
• Sample collected by masturbation  last ejaculation having occur 2-7 days previously  must be analysed
within 1-2hrs of production
• Abnormal result must be repeated after 12 weeks (no delay is azoospermia)  if persistently abnormal,
examination and investigation of the male must follow
• Normal semen analysis
o Volume  >1.5ml
o Sperm count  >15 million/ml
o Progressive motility  >32%
• Definitions
o Azoospermia  no sperm present
o Oligospermia  <15 million/ml
o Severe oligospermia  <5 million/ml
o Asthenospermia  absent or low motility
CAUSES OF ABNORMAL/ABSENT SPERM RELEASE

• Idiopathic oligospermia & asthenozoospermia  sperm numbers and/or sperm motility are low, but not
absent  common
• Drug exposure  alcohol, smoking, drugs (sulfasalazine or anabolic steroids) and exposure to industrial
chemicals (solvents)
• Varicocoele  varicosities of the pampiniform plexus normally occurring on the left side  present in 25% of
infertile men (15% of all men)  not fully understood how it impairs fertility, but surgical treatment does not
improve conception
• Anti-sperm antibodies  present in 5% of infertile men  common after vasectomy reversal  poor motility
and ‘clumping’ together
• Other causes
o Infection  eg. Epididymitis
o Mumps orchitis
o Testicular abnormalities  eg. Klinefelter’s syndomre
o Obstruction to delivery  eg. CF
o Hypothalamic problems
o Kallamnn’s syndrome  hypogonadotrophic hypogonadism
o Retrograde ejaculation  into bladder
INVESTIGATIONS
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• Azoospermia  blood test for FSH, LH, testosterone, prolactin and TSH
o Hypogonadotropic hypogonadism  very low FSH, LH & testosterone
o Hyperprolactinaemia  high prolactin
o Thyroid dysfunction  abnormal TSH
o Primary testicular failure  high FSH & LH and low testosterone  may be due to cryptorchidism,
surgery or radiochemotherapy
• Serum karyotype  used to demonstrate genetic causes  including Klinefelter’s syndrome (XXY) or
chromosomal translocation
• Absent vas deferens  should have a blood test for cystic fibrosis
MANAGEMENT OF MALE FACTOR SUBFERTILITY

• General advice  lifestyle changes and drug exposure addressed  wear loose clothing to keep testicles
below body temperature
• Specific measures  treat hypogonadotrophic hypogonadism may be treated with x3 weekly subcutaneous
FSH & LH injections (± hCG) for 6-12 months
• Assisted conception techniques
o IUI may help in mild-to-moderate sperm dynsfunction
o IVF is more severe oligospermia is present
o ICSI is used if very severe as part of IVF cycle
o SSR (surgical sperm retrieval)  then use ICSI-IVF
DISORDERS OF FERTILISATION
PHYSIOLOGY OF FERTILISATION
• At ovulation, the fallopian tubes move so the fimbriae can collect the oocyte from the ovary  the tube must
have adequate movement to achieve this
• Peristaltic contractyions and ciliam sweep the egg down the tube towards the sperm  blockage or ciliary
damage will impair this
• At ejaculation, millions of sperm enter the vagina  the cervical mucus helps them get through the cervix
• Egg and sperm unable to meet occurs in 30% of subfertile couples
CAUSES OF FAILURE TO FERTILISE

• Pelvic inflammatory disease (PID)  causes adhesion formation within and around fallopian tubes  main
cause of tubal damage, with 12% of women infertile after one episode of infection  infection at the time of
IUS/IUD insertion or ruptured appendix may also be responsible  if there are peritubal adhesions or
‘clubbed’ and closed fimbrial ends then laparoscopic adhesiolysis and salpinostomy can be performed 
ectopic pregnancy rates are increased  success rate is very poor if the tube is damaged proximal to the
fimbriae ends  IVF is often indicated
• Endometriosis  found in 25% of subfertile women  mainly mechanical role in subfertility  laparoscopic
surgery removes endometriotic deposits
• Previous surgery/sterilisation  any pelvic surgery may cause adhesion formation  treatment is the same as
for PID, but IVF is often needed  if women have undergone tubal clip sterilisation the options are IVF or
microsurgical tubal reanastomosis (increased ectopic risk)
• Cervical problems  rarely cause subfertility  can be due to antibody production which agglutinate or kill
the sperm  infection in the vagina or cervix can prevent adequate mucus production  cone biopsy for
microinvasive cervical carcinoma can be cause  IUI can bypass the cervix
• Sexual problems  5% of subfertile couples are affected  can be psychological or organic  ignorance or
discomfort can also prevent coitus  counselling with a trained psychosexual counsellor is required after
excluding organic disease
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DETECTION OF TUBAL DAMAGE
• Laparoscopy and dye test  allows visualisation and assessment of fallopian tube patency  methylene blue
is injected through the cervix from the outside and seen to spill out of the tubes (patent) or not (non-patent)
• Hysteroscopy  performed to first assess the uterine cavity for abnormalities
• Hysterosalpingogram (HSG)  radio-opaque contrast is injected through the cervix  spillage from fimbrial
ends can be seen on x-ray  a variant of this test can be used with transvaginal USS and ultrasound opaque
liquid  less invasive than laparoscopy, but endometriosis and periovarian adhesions may not be diagnosed
unless they cause tubal damage
ASSISTED CONCEPTION
• Current types of assisted conception
o IUI
o IVF ± ICSI
o Frozen embryo replacement (FER)
o Oocyte donation
o Preimplantation genetic diagnosis (PGD)
o Preimplantation genetic screening (PGS)
• Success is best measured with the live birth rate  declines after 35yrs and even more >40yrs  sperm
quality is also important but ICSI makes this less important
INTRAUTERINE INSEMINATION (IUI)

• Washed sperm are injected directly into the cavity of the uterus  can be performed during a natural
menstrual cycle  using urinary LH testing for ovulation so insemination can be following gonadotrophin
ovulation induction
• Suitable for couples with unexplained subfertility, cervical, sexual or male factor problems  cheaper, but
much less successful that IVF
• Tubes should be patent as the oocyte still needs to travel from the ovary to the sperm  so cycles should be
regular and ovulatory for natural cycle IUI
• For stimulated IUI  the live birth rate is 5-10% per cycle with a 15% risk of multiple pregnancy
IN VITRO FERTILISATION
• Embryos are fertilised outside the uterus and transferred back  fallopian tubes do not need to be patent
• Live birth rate
o <36yrs  35% per stimulated cycle
o 40yrs  <10% per stimulated cycle
• Normal ‘ovarian reserve’ is needed so that sufficient oocytes will be collected for fertilisation and transfer 
so IVF is not possible for ovarian failure  ovarian reserve is best assessed using serum levels of AMH, as it is
produced in the ovary so a direct measure  an alternative measure is transvaginal USS to count the number
of resting small follicles in the ovaries (AFC)
• There are stages of IVF
o Multiple follicular development
o Ovulation and egg collection
o Fertilisation and culture
o Embryo transfer
• Multiple follicular development  achieved using 2 weeks of daily subcutaneous gonadotrophin injections
(FSH±LH)  an additional drug must be used to prevent endogenous LH surge and premature ovulation
before oocyte collection
438
o ‘Long-protocol’ IVF  daily GnRH is started on day 21 and continued for 2-3 weeks to suppress
pituitary FSH & LH production  leading to ovarian quiescence  once suppression is confirmed by a
low oestrogen level or thin endometrium then gonadotrophin stimulation begins  GnRH analogue is
continues along with gonadotrophin stimulation until just before egg collection
o ‘Short-protocol’ IVF  pituitary suppression is not achieved before starting gonadotrophin
stimulation  instead a daily GnRH antagonist is added from around day 5 of gonadotrophin
stimulation  continued until just before egg collection
• Ovulation and egg collection  once an optimal number of mature size (15-20mm) ovarian follicles are
confirmed with scan monitoring the drugs are stopped  a single injection of hCG or LH is then given to
trigger final oocyte maturation  35-38hrs later the eggs are collected under intravenous sedation by
aspirating follicles transvaginally under USS guidance
• Fertilisation and culture  eggs are incubated with washed sperm and transferred to a growth medium 
embryos are cultured until cleavage (day 2-3) or blastocyst (day 5-6) stage ready for transcervical uterine
transfer  spare, good-quality embryos can be frozen for future thawing and FER during a natural or HRT
treatment cycle
• Embryo transfer  two cleavage embryos are transferred with a 25% twin pregnancy rate  blastocysts have
a higher implantation potential, so eSET may produce similar pregnancy rates but are more prone to late
division causing monochorionic twin pregnancies  luteal phase support using progesterone or hCG is given
until 4-8 weeks gestation
INTRACYTOPLASMIC SPERM INJECTION (ICSI)

• Injection of one sperm with a very fine needle into the oocyte cytoplasm  it is a laboratory adjunct to IVF
• Useful in male factor infertility when there is not enough motile sperm for standard IVF
• Sperm can be retrieved from the testes, frozen and then thawed during a fresh IVF cycle and used for ICSI
OOCYTE DONATION
• Some women cannot conceive with their own eggs  due to ovarian failure, older age or genetic disease
• Oocyte donors go through a full stimulated IVF cycle  retrieved oocytes are fertilised with the sperm of the
recipient woman’s partner
• Recipient women receives oestrogen and progesterone to prepare her endometrium for transfer of the fresh
embryo
PREIMPLANTATION GENETIC DIAGNOSIS

• Blastocytes contain >100 cells  in PGD 3-5 cells are removed from the trophoectoderm (pre-placenta) and
the DNA is examined using techniques of karyomapping or PCR to look for genetic abnormalities
• Unaffected embryos are then thawed and replaced in the uterus for a subsequent menstrual cycle with or
without exogenous hormone therapy
• PGD is used for couples who are carriers of single-gene defects (CF) or who have chromosome translocations
placing them at high risk of conceiving a child with aneuploidy
• Embryos can also be sexed to avoid replacement of male embryos with X-linked conditions  eg.
Haemophilia
• All couples produce a proportion of embryos containing abnormal numbers of chromosomes  the rate
increases with advancing maternal age
• Women can have their IVF blastocysts biopsied, frozen and ‘screened’ using PGS to identify chromosomally
‘normal’ embryos for later transfer in an attempt to overcome the age-related decline in IVF live births
COMPLICATIONS OF ASSISTED CONCEPTION
439
• Superovulation  multiple pregnancy and ovarian hyperstimulation are already discussed  the former are
producing a significant impact on obstetric and neonatal services
• Egg collection  intraperitoneal haemorrhage and pelvic infection may complicate USS-guided aspiration of
mature follicles necessary for IVF  risk is low (1%)
• Pregnancy complications  rate of ectopic pregnancy can be higher
FERTILITY PRESERVATION
• Men or adolescent boys whose fertility is at risk can freeze sperm samples  this can be thawed at a later
date and used during an IVF cycle to inseminate the partner’s eggs
• Women need to undergo an IVF cycle to have her eggs or embryos collected and frozen for later use  for
embryos both parents must give consent for it to be thawed  live births following single IVF cycle and egg or
embryo freezing is 30-50% for women <37yrs
• Cryopreservation of ovarian/testicular tissue  grafted back after treatment
440
CONTRACEPTION
• Pearl index (PI)  measure of the a contraception risk of pregnancy per 100 woman-years of using the given
contraception method
CONTRACEPTION IN SPECIAL PATIENT GROUPS

BREASTFEEDING WOMEN
• In a women is who fully breastfeeding, amenorrhoeic and less than 6 months postpartum  breastfeeding is
>98% effective at preventing pregnancy
• If a women has unprotected sex <21 days postpartum she will not require emergency contraception
• The COCP affects breastmilk volume and is avoided before 6 weeks postpartum  relatively contraindicated
between 6 weeks and 6 months postpartum
• Progesterone-only methods have no effect on milk production  can be used in the first 6 weeks postpartum
and thereafter
• The IUD can be inserted from 4 weeks postpartum
LATER IN LIFE
• Women <50yrs should continue contraception for at least 2 years after the last period
• Women >50yrs should continue contraception for 1 year after the last period
HORMONAL CONTRACEPTION
• Oestrogens and progestogens can be used for contraception in the following ways
o Progestogen as a table  POP ‘mini-pill’
o Progeston as a depot  Nexplanon, Depo-Provera or in the levonorgestrel-containing IUS
o Combined hormonal contraception (CHC)
▪ COC  mono/bi/triphasic pill
▪ Transdermal patch
▪ Vaginal rin
COMBINED ORAL CONTRACEPTIVE PILL

• COCs act by exerting –ve feedback on gonadotrophin release and thereby inhibiting ovulation  they also tin
the endometrium and thicken cervical mucus
• A single tablet, containing oestrogen and progestogen is taken every day for 3 weeks  then stopped for 1
week
• Most COC preparations contain a synthetic oestrogen (ethinyloestradiol)  newer COCs (Qlaira or Zoely)
contain natural oestrogen (oestradiol valerate) which is metabolised to the naturally occurring oestradiol in
the body
• Vaginal bleeding occurs at the end of the pill packet as a result of hormone withdrawal on the endometrium
 the cycle is then restarted
• Pill packets can be take consecutively without a break to reduce the frequency of the withdrawal bleed
although increased irregular spotting may occur
• Taken properly, COC is highly effective, with a failure rate of 0.2 per 100 woman-years  if less care is taken,
failure rates are much higher
• All women can use COC  it is also useful for
o Menstrual cycle control o Acne/hirsutism
o Menorrhagia o Recurrent simple ovarian cysts
o Premenstrual symptoms o Protection against endometriosis &
o Dysmenorrhoea fibroids
441
o Reduced risk of PID o Reduced incidence of ovarian,
endometrial and bowel CA
• Reduced absorption of the pill can occur if suffering from diarrhoea, vomiting or taking some oral antibiotics
• For standard-strength pills, 1 or 2 missed pills anywhere in the pack will not course a problem  if a low dose
is being given on 1 pill can be missed  if more than this has been missed then condoms should be used for 7
days
• Major complications  very rare with estimated excess annual risk of death for women taking the pill is 2-5
per million users for women <35yrs  this can be minimised by careful selection and follow-up
o Venous thrombosis
o Myocardial infarction
o Cerebrovascular accidents
o Focal migraine
o Hypertension
o Jaundice
o Liver, cervical and breast carcinoma
• Side effects  both oestrogenic and progestogenic side effects may occur  the most common are
o Nausea
o Headache
o Breast tenderness
o Breakthrough bleeding  first few months
o Suppressed lactation  contraindicated <6 weeks postpartum
COMBINED TRANSDERMAL PATCH (EVRA)

• Evra is a transdermal adhesive patch  released ethinyoestradiol plus the progestogen norelgestromin
• A new patch is applied weekly for 3 consecutive weeks  followed by a patch-free week
• Efficacy, side effects and contraindications are similar to the COCP
COMBINED VAGINAL RING (NUVARING)

• Latex-free Nuvaring releases a daily dose of erthinyloestradiol and etonogestrel to inhibit ovulation
• It is easily inserted into the vagina by patient  worn for 3 weeks, then removed to allow for a 7-day ring free
break and withdrawal bleed  a new ring can then be inserted
• May be better tolerated than the COC due to lower systemic oestrogenic side effect
• Ring should not be removed during intercourse  can be removed for a max. 3hrs
• When used properly, it has similar efficacy to the COCP  it has the same metabolic and coagulation effects
as other combined hormonal methods
PROGESTOGEN-ONLY PILL (POP)

• POP contains a low dose of norethisterone  must be taken every day without a break and at the same time
(±3hrs)
• It makes cervical mucus hostile to sperm  50% of women inhibit ovulation too
• Failure rates are 1 per 100 woman-years  higher than the combined pill
• Side effects are progestogenic
o Vaginal spotting
o Weight gain
o Mastalgia
o Premenstrual-like symptoms
o Functional ovarian cyst can occur
442
• Particularly suitable for older women and those in whom the combined pill is contraindicated (eg. lactating
mothers)  there is no risk of thromboembolism and it can be used in almost all situations where the
combined pill is contraindicated
• If a pill is missed by >3hrs, then another should be taken as soon as possible and condoms used for 2 days
• POPS are not affected by broad-spectrum antibiotics
• Cerazette & Cerelle  slightly different preparations  inhibit 95% of ovulatory cycles  more effective and
can be taken within a 12hr window
LONG-ACTING REVERSIBLE CONTRACEPTIVES (LARCS)

• Depot administration, so progestogen is released slowly and bypasses portal circulation  mode of action
similar to POP, but ovulation is normally also prevented  therefore protect against functional ovarian cysts
and ectopic pregnancy
• They are not user dependent and have high efficacy rates  more cost-effective than COC after 12 months of
use, but current usage rates are low
• Depo injections  all may be used in breastfeeding women
o Depo-Provera  contains medroxyprogesterone acetate  administered by IM injection every 3
months  failure rate is <1.0 per 100 woman-years  often causes irregular bleeding in first few
weeks, but then causes amenorrhoea  other progestogenic side effects may occur  prolonged
amenorrhoea may continue after cessation  bone density decreases over first 2-3yrs then stabilises
and is regained after stopping, so contraindicated in teenages and women with osteoporosis  useful
during lactation when compliance is a problem
o Noristerat  IM depot preparation containing norethisterone enantate  similar efficacy as Depo-
Prevera  given every 8 weeks  recommended as a short-term interim contraception
o Sayana Press  subcutaneous preparation of medroxyprogesterone acetate  licensed for self-
administration  provides 13 weeks of cover
• Nexplanon (implant)  40mm flexible rod containing etonogestrel  inserted into the upper arm
subdermally with local anaesthetic  failure rate is <1.0 per 100 woman-years  lasts 3 years and female
satisfaction is high  side effects include progestogenic symptoms – particularly irregular bleeding in the first
year  no drop in bone density  rapid resumption of fertility after removal
EMERGENCY CONTRACEPTION
• The ‘morning after pill’  chance of conception after unprotected intercourse can be reduced by taking it 
there are two types available
o Levonelle  contains a single dose of progestogen levonorgestrel  best taken within 24hrs and no
later than 72hrs  affects sperm function and endometrial receptivity and if given just prior to
ovulation it may prevent follicle rupture  95% success rate if used within 24hrs, but reduces to 58%
if delayed until 72hrs  vomiting can occur, plus menstrual disturbance in the following cycle
o Ulipristal (ellaOne)  selective progesterone receptor modulator (SPRM)  prevent or delays
ovulation and may also reduce embryo implantation  at least as effective as Levonelle  can be
used up to 120hrs after unprotected intercourse  as it blocks progesterone action, it will reduce
effectiveness of progesterone-containing contraceptives  women should use condoms or avoid
unprotected intercourse until the next period
• Intrauterine device  prevents implantation  most efficacious method of emergency contraception  can
be inserted up to 5 days after episode of unprotected intercourse or the expected day of ovulation 
antibiotics prophylaxis is usually given at the time of insertion
BARRIER CONTRACEPTION
443
• Male condom  consists of a sheath that fits onto the erect penis  failure rate is 2-15 per 100 woman-
years, but is dependent on using it properly  affords the best protection against disease, including HIV 
show always be used for casual intercourse, even if in conjunction with other methods
• Female condom  fits into the vagina  failure rates are similar to the male condom, but it is less well
accepted  it protects against STIs
• Diaphragms & caps  fitted before intercourse and must remain in situ for at least 6hrs afterwards  cervical
caps fit over the cervix and the diaphragm is held between the pubic bone and sacral curve covering the
cervix  types and sizes vary, so selection should be determined by trained personnel  failure rates are 5
per 100 woman-years dependent on the tpe used  some protection against PID, there is less protection
against HIV
• Spermicides  barriers methods are used in conjunction with a spermicide jelly/cream/pessary containing
nonoxynol-9  not recommended for use on their own
INTRAUTERINE CONTRACEPTIVE DEVICES

• Copper containing devices  prevent fertilisation as the copper ion is toxic to sperm and also block
implantation
• Hormone-containing devices (IUS)  contain progestogen which is slowly released locally over several years
 can be replaced every 3 or 5yrs  main contraceptive effects are local through changes to cervical mucus,
uterotubal fluid, backed by endometrial changes which impede implantation  reduces menstrual loss and
pain  systemic side effects are lower, but irregular light bleeding is the main problem  satisfaction and
efficacy rates are high  return to fertility after removal is rapid and complete
• Failure rate for both IUD & IUS is <0.5 per 100 woman-years  a major advantages is the lack of user
dependence
• Usually inserted in the first half of the cycle, but can be used straight after termination or in the puerperium
 IUS is also used in non-contraceptive indications, such as menorrhagia or dysmenorrhoea
• Complications
o Pain or cervical shock (increased vagal tone) can complicate insertion
o Expulsion  usually within the first month
o Perforation of the uterine wall (<0.5%)  can occur at insertion or may migrate there afterwards
o Heavier or more painful menstruation  can occur (except with IUS)
o Infection (20% risk)  women with asymptomatic STI are at increased risk of PID during first 20 days
after insertion  but mainly limited to younger women with multiple partners
o Ectopic  if pregnancy does occur with IUD/IUS present  but rate lower than without
contraception
FEMALE STERILISATION
• In the UK, 10% of couple rely on female and 20% on male sterilisation for contraception  between 2000-
2010, the number of sterilisation procedures decreased by 75% and 50% for women and men respectively
• Most common technique is fallopian tube clips (Filshie clip)  these are applied laparoscopically and
completely occlude the lumen  normally involved a general anaesthetic
• Sometime sterilisation is performed at the same time as a C-section  the rate of regret are higher than
when performed later
• An alternative is transcervical sterilisation  hysteroscopic placement of microinserts into the proximal part
of each tubal lumen  inserts expand and cause fibrosis and occlusion of the lumen  confirmed 3 months
later with hysteroslapingogram
• Filshie clip and Essure both have failure rates of 0.5%
444
MALE STERILISATION
• Vasectomy is more effective than female sterilisation  involves ligation and removal of a small segment of
the vas deferens  thereby prevents release of sperm
• Can be performed under local anaesthetic
• Sterility is not confirmed until azoospermia from two semen analysis  may take up to 6 months
• Complications (5%)
o Failure
o Postoperative haematomas
o Infection
o Chronic pain
• Natural conception following successful reversal is often prevented by antisperm antibody formation which
restricts motility  such sperm can be washed and used during an insemination or IVF cycle
• Surgical sperm retrieval followed by IVF is an alternative to vasectomy reversal
NATURAL CONTRACEPTION
• This is less reliable than most methods  offers no protection against STIs  only suitable for monogamous
women who would not be concerned by pregnancy
• Lactation  has a major contraceptive role in the developing world
• The rhythm method  avoids the fertile period around ovulation
• Withdrawal  involves removal of the penis just before ejaculation  not recommended because sperm can
be released before orgasm
445
THE MENOPAUSE AND POST-REPRODUCTIVE HEALTH

• Menopause  permanent cessation of menstrauation resulting from loss of ovarian follicular activity  it
occurs at a median age of 51 years  natural menopause is recognised to have occurred after 12 consecutive
months of amenorrhoea
• Perimenopause  includes the time beginning with the first features of the approaching menopause and
ends 12 months after the last menstrual period
• Postmenopause  defined as dating from the final menstrual period  however, it cannot be determined
until after 12 months of spontaneous amenorrhoea
• Premature menopause  arbitrarily defined as menopause occurring <40yrs  affects 1% of women  often
no cause is found, but some will be surgical following bilateral oophorectomy  other causes include
o Infection
o Autoimmune disorders
o Chemotherapy
o Ovarian dysgenesis
o Metabolic disease
POSTMENOPAUSAL BLEEDING
• Postmenopausal bleeding  vaginal bleeding occurring at least 12 months after the last menstrual period
• 20% of cases are carcinoma of the endometrium/cervix or premalignant endometrial hyperplasia with
cytological atypia  purulent blood-stained discharge should be investigated to rule out endometrial CA or a
diverticular abscess draining via vagina
• Withdrawal bleeds occur with sequential menopausal HRT  if they are regular they do not need
investigating
• Bleeding may also occur from a poorly oestrogenised vaginal wall (atrophic vaginitis)  should be a diagnosis
of exclusion
• All women should undergo a bimanual & speculum examination and a cervical smear if one has not been
taken
• Transvaginal sonography (TVS) is a routine procedure for initial assessment, as it measure endometrial
thickness and gives information of other pelvic pathology  eg. fibroids and ovarian cysts  less invasive
than endometrial biopsy or hysteroscopy, but does not give a hisological diagnosis
• A thickened endometrium or a cavity filled with fluid  indicates an increased risk of malignancy or other
pathology (hyperplasia or polyps)  if endometrium <4mm and only one episode of PBM then endometrial
biopsy ± hysteroscopy are not required  if thicker than 4mm or multiple episodes of PBM then an
endometrial biopsy ± hysteroscopy must be performed
• Procedure can be done as an outpatient under local anaesthetic or as a day case under general anaesthetic
• Once malignancy is excluded  topical oestrogen or oral ospemifene (SERM) can be used to treat atrophic
vaginitis
SYMPTOMS AND CONSEQUENCES OF THE MENOPAUSE

CARDIOVASCULAR DISEASE
• In the UK, CVD accounts for ¼ of all deaths in women
VASOMOTOR SYMPTOMS
• Hot flushes and night sweats are the most common symptoms  affect 70% of Western women
• Night sweats can cause sleep disturbance leading to tiredness and irritability  may begin before periods
stop  usually present for <5yrs, but some can continue into 60s & 70s
446
UROGENITAL PROBLEMS
• Oestrogen deficiency can cause vaginal atrophy and urinary problems  termed genitourinary syndrome of
menopause
• Vaginal atrophy can also affect women on systemic HRT  can be extremely uncomfortable and result in
dyspareunia, cessation of sexual activity, itching, burning and dryness
• Urinary symptoms include
o Frequency
o Urgency
o Nocturia
o Incontinence
o Recurrent infection
SEXUAL PROBLEMS
• Affects 50% of all women and becomes more common with age  interest in sex declines in both sexes with
increasing age, but is more pronounced in women
• Sexual problems are classified into various types
o Loss of sexual desire
o Loss of sexual arousal
o Problems with orgasm
o Sexual pain
OSTEOPOROSIS
• Osteoporosis is a major problem, with 1 in 3 women >50yrs having one or more osteoporotic fracture
• Bone strength reflects the integration of bone density and bone quality
o Bone density is expressed as grams of mineral/area or volume  determined by peak bone mass and
amount of bone loss
o Bone quality refers to architecture, turnover, damage accumulation and mineralisation
• Fractures are the clinical consequence of osteoporosis  most common sites are wrist (Colles’ fracture), hip
or spine  these have major impact on QoL, result in a significant economic burden and #NOF is associated
with considerable mortality
447
INVESTIGATIONS OF THE MENOPAUSE

FOLLICLE-STIMULATING HORMONE (FSH)
• FSH levels estimate the degree of ovarian reserve remaining  increased levels suggest fewer oocytes
• Levels are helpful with suspected premature ovarian failure  but in women >45yrs who have hot flushes the
diagnosis is often clear
• Limited value in perimenopause as levels vary daily  not a predictor of fertility status or when the last
period will occur
• If taken in a women who has not had a hysterectomy  they are best taken between days 2-5 of the cycle to
avoid mid-cycle preovulatory increase and luteal phase suppression of FSH
• In women who have had a hysterectomy or with oligomenorrhoea/amenorrhoea  two samples, 2 weeks
apart are obtained
ANTI-MULLERIAN HORMON (AMH)

• AMH gives a direct measure of ovarian reserve  low levels are consistent with ovarian failure
• AMH levels are stable throughout menstrual cycle  can be measured on any day
• Its interpretation in predicting menopause age needs to make in a clinical context
OTHER BLOOD TESTS

• Thyroid function tests  free T4 & TSH are checked if there is an inadequate symptomatic response to MHT
 thyroid disease can cause hot flushes
• Catecholamines and 5-HIAA  raised in phaechromocytoma and carcinoid syndrome  can also be
measured in these circumstanes
• LH, oestrogen & progesterone  oestrogen is naturally low early in the menstrual cycle in women with
normal ovarian function  a low progesterone level indicates anovulation
BONE DENSITY ESTIMATION

• Screening not appropriate  so test women who are at risk
• Common sites for measurement are lumbar spine and hip  however, spine may have falsely increased
values due to
o Osteophytes from OA
o Kyphosis
o Scoliosis
o Aortic calcification
• Bone densitiy changes are slow  follow up scans may be taken every 2-3yrs to assess response to treatment
448
• DEXA scan used with BMD quoted as g/cm2 or converted to a T (average) or Z (patient’s age group) score
BIOCHEMICAL MARKERS OF BONE METABOLISM

• Biochemical markers of turnover are classified as markers of resorption or formation  can be used to
monitor response to therapy  eg. Bisphosphonates  as suppression of bone turnover occurs far more
rapidly than detectable changes in bone mineral density
• Significant changes can occur within 3-6 months of initiation of therapy  bone markers are not used to
diagnose osteoporosis
HORMONE REPLACEMENT THERAPY

• HRT is oestrogen alone if a women has had a hysterectomy or combined with progesterone if she has not 
progestogens are given cyclically or continuously with the oestrogen
• Systemic oestrogen can be delivered orally, transdermally (patch or gel) or subcutaneously (implant) 
topical oestrogens are given vaginally
• Progestogens can be given orally, transdermally (patch) or directly into the uterus (IUS)
• A new developemtn is the combination of bazedoxifene (SERM) with an oestrogen for women with a uterus
OESTROGENS
• Synthetic and natural oestrogens are available
o Natural  oestradiol, oestrone, oestriol  synthesised from soy beans or yams  chemically
identical to natural human hormones
o Synthetic  ethinyloestradiol  used in the COCP, but are not used in HRT because of their greater
metabolic impact
PROGESTOGENS
• Progestogens used in HRT is derived from plant sources  eg. soya beans and yams
• Mirena IUS is licensed for endometrial protection when oestrogen HRT is given  provides contraception for
perimenopausal woman as well
TIBOLONE
• Tibolone is a synthetic steroid compound  inert, but is converted in vitro to metabolites with oestrogenic,
progestogenic and androgenic actions
• Used in postmenopausal women who desire amenorrhoea  treats vasomotor, psychological and libido
problems
• Conserves bone mass  reduces risk of vertebral fracture
ANDROGENS
• Testosterone can be used to improve libido  but is not successful in all women, as other factors may be
involved
• Availability of testosterone preparations in female doses is limited  varies worldwide
REGIMENS OF HRT
• Oestrogen alone (after hysterectomy)  may be concerns about remnant of endometrium in the cervical
stump in women who have had a subtotal hysterectomy  if this is suspected, the presence or absence of
bleeding induced by monthly sequential HRT is useful diagnostic tool
• Combined oestrogen & progestogen (with uterus)  combination reduces the increased risk of endometrial
hyperplasia and carcinoma, which occurs with unopposed oestrogen  progestogen can be given
‘sequentially’ for 10-14 days every 4 weeks or for 14 days every 13 weeks or can be continuous
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• Menopausal status (perimenopausal)  if still bleeding or bled in last 12 months, they can given sequential or
cyclic therapy  or IUS with oral/patch oestrogen is useful in heavy menstrual bleeding or requiring
contraception
• Menopausal status (postmenopausal)  continuous regimen should be used because of the lack of induced
bleeding and at reduced risk of endometrial CA compared to sequential regimen  induces endometrial
atrophy  use of SERM & oestrogen is approved
• Topical oestrogens/ospemifene  used to treat urogenital symptoms  oral ospemifene (SERM) used for
moderate-to-severe symptomatic vulvovaginal atrophy in postmenopausal women
BENEFITS AND RISKS OF OESTROGEN-BASED HRT

• Benefits
o Menopausal symptoms  oestrogen treats hot flushes within 4 weeks  vaginal dryness, soreness,
superficial dyspareunia, urinary frequency and urgency respond well to topical and systemic
oestrogen  may also improve sexuality, but may require testosterone
o Osteoporosis  HRT reduces the risk of spine and hip fractures  effective and appropriate in at-risk
women before 60yrs or within 10yrs after menopause
o Colorectal cancer  HRT reduces risk by ⅓  unknown about risk when HRT is stopped
• Risks
o Breast cancer  combined HRT slightly increases risk  not seen in women who start HRT early for
premature menopause  risk falls on stopping combined therapy
o Endometrial cancer  unopposed (non-vaginal) oestrogen HRT increases risk of endometrial CA  so
progestogen is added for non-hysterectomised women
o Venous thromboembolism  oral HRT increase risk of VTE twofold in women >50yrs  highest risk
occurs in 1st use  advancing age, obesity and underlying thrombophilisa significantly increase risk
o Gallbladder disease  oral HRT increases the risk
DURATION OF THERAPY
• Menopausal symptoms  treatment is usually continued for up to 5yrs  stopped to evaluate whether
symtpoms recur with sufficient severity to warrant continuation
• Osteoporosis  treatment may need to be lifelong  women may change to other drugs after cessation of
treatment
• Premature menopause  usually advised to continue with HRT until the median age of the natural
menopause (eg. 51yrs)
OTHER TREATMENTS FOR THE MENOPAUSE

NON-OESTROGEN BASED THERAPIES
• Should be considered in all women who do not wish to take HRT or have contraindications
• For hot flushes and night sweats
o Progestogens  5mg/day norethisterone or 40mg/day megestrol acetate
o Clonidine  centrally acting alpha-adrenoreceptor agonist
o SSRIs or SNRIs  effective in treating hot flushes in short-term studies
o Gabapentin  limited evidence shows that it may be effective
• A variety of lubricants and moisturises are available for vaginal atrophy  less effective than oestrogen
• Prevention and treatment of osteoporosis
o Bisphosphonates  used in prevention and treatment of osteoporosis  principal side effect is
irritation of upper GI with oral therapies  remain in bone for many years, so may affect the foetal
skeleton and are not advised during pregnancy
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o Strontium ranelate  decreases risk of vertebral and hip fractures  restricted because of increased
heart disease
o Raloxifene and bazedoxifene (SERMs)  reduces the incidence of osteoporosis-related vertebral
fractures in women with established osteoporosis
o Parathyroid hormone peptides  reduce the risk of vertebral, but not hip fracture  expensive, so
reserved for severe osteoporosis in those unable to tolerate other treatments  use I limited to 2yrs
as increased risk of osteosarcoma in rats
o Denosumab  monoclonal antibody to RANKL, so reduces osteoclast activity  given subcutaneous
every 6 months  reduces risk of fracture  most useful where bisphosphonates are
contraindicated or with malabsorption
o Calcium & vitamin D supplements  useful if insufficiency exists, especially in the elderly
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DISORDERS OF EARLY PREGNANCY

PHYSIOLOGY OF EARLY PREGNANCY
• Oocyte is fertilised in the ampulla of fallopian tube  forms a zygote  swept towards uterus by ciliary action
and peristalsis
• Enters uterus around day 4 as a multicellular morula  becomes blastocyst by developing fluid-filled cavity
• Outer layer trophoblast invade the endometrium to implant between day 6-12  this layer forms the
placenta  15% of embryos are lost at this stage
• Trophoblasts produce hCG, which peaks at 12 weeks  maintains corpus luteum, which produces oestrogen
and progestogen  these hormones turn secretory endometrium into decidua (rich in glycogen and lipids)
• Trophoblastic proliferation leads to formation of chorionic villi on the endometrial surface of the embryo 
forms the surface area for nutrient transfer in the cotyledons of the placenta
• Placenta morphology is complete at 12 weeks  a heartbeat is established at day 22 and visible on
transvaginal ultrasound a week later
SPONTANEOUS MISCARRIAGE
• Spotaneous miscarriage  when a foetus dies or delivers dead before 24 completed weeks of pregnancy 
the majority occur before 12 weeks
• 15% of clinically recognised pregnanices spontaneously miscarry  more will be so early as to no be
recognised  rate of miscarriage increases with maternal age
• Isolated non-recurring chromosomal abnormalities account for >60% of ‘one-off’ or sporadic miscarriage 
however, if >3 miscarriages occur, then recurrent causes are more likely
• Usually presents with bleeding  pain from uterine contractions can cause confusion with ectopic pregnancy
 uterine size and state of cervical os determine what type of miscarriage  severe uterine tenderness is
abnormal
• Ultrasound will show is a foetus is in the uterus and viable  it may also detect retained foetal products  if
any doubt, women should be rescanned in 1 week as very early pregnancy can be confused with non-viable
pregnancy
• USS does not always show ectopic pregnancy  but if foetus is seen in uterus a concurrent ectopic pregnancy
is very unlikely
• Pregnancy of unknown location  sometimes very difficult to differentiate between an early viable or failed
intrauterine pregnancy, a complete miscarriage or an ectopic pregnancy  assume ectopic until location is
determined
• hCG levels can also help differentiate  blood levels normally increase >63% in 48hrs with a viable
intrauterine pregnancy  a decline in hCG of >50% suggests a non-viable pregnancy  a change in hCG over
48hrs between a 50% decline and 63% rise suggest an ectopic pregnancy
• Admission is required if ectopic pregnancy is suspected, if the women is symptomatic, if the miscarriage is
septic or if there is heavy bleeding  resuscitation is sometimes needed as products of conception in cervical
os can cause pain, bleeding and vasovagal shock  they are removed using a speculum and polyp forceps
• Intramuscular ergometrine will reduce bleeding by contracting the uterus, but only used if foetus is non-viable
 if fever, then swabs and IV antibiotics given
• Rhesus negative women should be given anti-D if the miscarriage is treated surgically or medically, or if there
is bleeding >12 weeks  reduces risk in future pregnancies
• 90% of women in whom foetal heart activity is detected at 8 weeks will not miscarry
TYPES OF MISCARRIAGE
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• Threatened miscarriage  there is bleeding, but the foetus is alive, the uterus is of expected size and the
cervical os is closer  on 25% will go on to miscarry
• Inevitable miscarriage  bleeding is heavier  foetus may still be alive, but the cervical os is open 
miscarriage is about to occur
• Incomplete miscarriage  some foetal parts have been passed, but the os is usually open
• Complete miscarriage  all foetal tissue has been passed  bleeding has diminished, the uterus is no longer
enlarged and the cervical os is closed
• Septic miscarriage  contents of the uterus are infected causing endometritits  vaginal loss is offensive,
uterus is tender, but fever may be absent  if pelvic infection occurs there is abdominal pain and peritonism
• Missed miscarriage  the foetus has not developed or died in utero  this is not recognised until bleeding
occurs or USS is performed  uterus is smaller than expected and os is closed
MANAGEMENT OF NON-VIABLE INTRAUTERINE PREGNANCY

• Expectant management  can be continued as long as the woman is willing and there are no signs of
infection  it is successful within 2-6 weeks in >80% of women with incomplete miscarriage and in 30-70% of
women with missed miscarriage  a large intact sac is associated with lower success rates
• Medical management  vaginal or oral prostaglandin (misoprostol)  it is successful in >80% of women with
incomplete miscarriage and 40-90% of women with missed miscarriage  urine pregnancy test should be
repeated 3 weeks after to exclude an ectopic or molar pregnancy
• Surgical management  surgical management of miscarriage (SSM) was previously known as ERPC  carried
out under GA using vacuum aspiration  suitable if the women prefers it, there is heavy bleeding or signs of
infection  success rate are >95% for both incomplete and missed miscarriage  tissue is examined to
exclude molar pregnancy
• Complications
o Vaginal bleeding in expectant or medical management may be heavy and painful  may need surgical
management (10-40%)
o Infection (3%) are similar across all managements
o Surgical management can partly remove the endometrium causing Asherman’s syndrome, or
perforate the uterus (<1%)
RECURRENT MISCARRIAGE
• Recurrent miscarriage is when 3 or more miscarriages occur in succession  1% of couples are affected, but
chance of miscarrying in 4th pregnancy is still only 40%
• In early-pregnancy ultrasound monitoring is very important  in later pregnancy, ‘high-risk’ monitoring is
important because late pregnancy complications are more common
CAUSES OF RECURRENT MISCARRIAGE

• Antiphospholipid antibodies  thrombosis in the uteroplacental circulation is likely to be the mechanism 
treatment is with aspirin and LMW heparin
• Parental chromosomal defects  foetal miscarriage tissue is karyotyped  if shows an unbalanced
abnormality then parental karyotyping is performed  refer to clinical geneticist  CVS and amniocentesis is
offered  donor oocytes or sperm is an option or PGD of IVF embryos are alternatives
• Anatomical factors  uterine abnormalities are diagnosing with USS, MRI or hysterosalpingogram  more
common with late miscarriage  often incidental finding and surgical intervention may leads to uterine
weakness or adhesion formation  cervical problems contribute to late miscarriage as well as preterm labour
• Infection  not a cause of recurrent early miscarriage, but implicated in preterm labour and late miscarriage
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• Hormonal factors  thyroid dysfunction ( thyroid antibodies) is associated with recurrent miscarriage, so
should be tested and treated  PCOS may be associated with an increased risk of pregnancy loss
• Others
o Obesity
o Smoking
o Excess caffeine intake
o Older maternal age
UNWANTED PREGNANCY AND THERAPEUTIC ABORTION
METHODS OF ABORTION
• Rhesus –ve women should receive anti-D within 72hrs of TOP
• Contraception should be discussed at the initial consultation  screened for STIs
• Surgical methods  suction curettage is used between 7 and 12-14 weeks  before 7 weeks failure rates are
higher than with medical abortion  >14 weeks, medical methods are usually employed, although surgical
abortion by dilation and evacuation is safe and effective  the cervix is ‘prepared’ with preoperative vaginal
misoprostol and antibiotic prophylaxis given
• Medical methods  anti-progesterone (mifepristone) plus progstagladin 36-48hrs later is the most effective
method of abortion at <7 weeks  can be used at any gestation as an alternative to surgical  it is usual and
most effective method for mid-trimester abortion (13-24 weeks)  from 22 weeks, feticide is performed first
to prevent live birth using KCl into umbilical vein or foetal heart  such late termination are usually only
performed where a foetal abnormally is present
• Complications of therapeutic abortion
o Haemorrahge  1 in 1000 with greater risk in later gestations
o Infection  up to 10% of cases  reduced by screening and prophylactic antibiotics
o Uterine perforation  1-4 in 1000 surgical abortions
o Cervical trauma  at the time of surgical abortion
o Failure  <5% of surgical and medical abortions required further intervention  <1% fail to end the
pregnancy
o Preterm delivery  associated with multiple surgical terminations
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o Unsafe abortion  50% worldwide with 98% of these in developing countries
ECTOPIC PREGNANCY
• An ectopic pregnancy is when the embryo implants outsides the uterine cavity  occurs in 1 in 60-100
pregnancies  mortality rate is 16.9/100000 estimated ectopic pregnancies  more common with advanced
maternal age and lower socioeconomic class
• The thin walled tube is unable to sustain trophoblastic invasion  it bleeds into lumen and may rupture 
when intraperitoneal blood loss can be catastrophic
• Ectopic can be naturally aborted either within the tube or extruded through the fimbrial ends
• Often no cause is evident  any factor which damages the tube can cause fertilised occyte to be caught 
eg. PID from STI
• Additional risks
o Assisted conception
o Pelvic surgery  particularly tubal
o Previous ectopics
o Smoking
• The diagnosis is easily missed  abnormal vaginal bleeding, abdominal pain or collapse in any women of
reproductive age should have a pregnancy test
• Present with
o Lower abdominal pain  colicky pain, then constant
o Light, dark vaginal bleeding
o Syncopal episodes and shoulder tip pain  intraperitoneal bleeding
o Amenorrhoea for 4-10 weeks previously
o Rebound tenderness
o Cervical excitation
o Adexum tenderness
o Uterus is smaller than expected
o Cervical os closed
• Investigations
o Pregnancy test  normally positive with ectopic
o USS  may not visualise ectopic, but will detect lack of intrauterine pregnancy  also free fluid in the
adnexae
o Quantitative serum hCG  useful if uterus is empty  if >1000IU/ml then an intrauterine pregnancy
will be visible on transvaginal USS  if the level is lower but rises >63% in 48hrs it is a early viable
intrauterine pregnancy  declining or slowing levels suggest an ectopic or non-viable intrauterine
pregnancy
o Laparoscopy  most reliable but very invasive
MANAGEMENT
• Where symptoms are present, the patient should be admitted  IV access and blood cross-matched  anti-
D is given if the patient is Rhesus –ve
• Surgical management  appropriate if women in significant pain, adnexal mass >35mm, visible foetal heart
activity or a serum hCG level >5000 IU/ml  laparoscopy is standard and preferable to laparotomy because
recovery is faster and subsequent fertility rates are equivalent or better  the ectopic is either removed from
the tube (salpingostomy) or the whole tube including the ectopic is remove (salpingectomy)
• Medical management  appropriate if the patient is able to return for follow-up, has no significant pain, has
an adnexal mass <35mm with no foetal heart activity, plus no coexisting intrauterine pregnancy  the lower
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the hCG, then the higher the success rate  systemic single-dose methotrexate can be used without recourse
to laparoscopy  hCG levels measure to confirm removal, but second dose (15%) or surgery (10%) may be
required
HYPEREMESIS GRAVIDARUM
• Hyperemesis gravidarum is when nausea and vomiting in early pregnancy are so severe as to cause severe
dehydration, weight loss and electrolyte disturbance  occurs in only 1 in 750 women
• Seldom persists beyond 14 weeks and is more common in multiparous women
• Predisposing conditions include urinary infection and multiple or molar pregnancy
• IV rehydration is given  anti-emetics (metoclopramide, cyclizine or ondansetron) and thiamine to prevent
neurological complications of vitamin depletion  steroids have been used in severe cases
GESTATIONAL TROPHOBLASTIC DISEASE

• Trophoblastic tissue proliferates in a more aggressive way than normal  hCG is usually secreted in excess 
proliferation can be localised and non-invasive (hydatidiform mole) and is considered a premalignant
condition
• Hydatidiform mole can be subdivided based on genetic and histopathological features
o Complete mole  entirely paternal in origin, usually when one sperm fertilises an empty oocyte and
undergoes mitosis  there is no foetal tissue, merely a proliferation of swollen chorionic villi
o Partial mole  usually triploid, derived from two sperms entering one oocyte  there is variable
evidence of a foetus
• The proliferation may have characteristic of malignant tissue
o Invasive mole  invasion only locally within the uterus
o Choriocarcinoma  metastasis has occurred
• The least common form of GTD is placental site trophoblastic tumour (PSTT)  which in contrast to other
types of trophoblastic disease presents an average of 3.4 years later
• GTD occurs in 1 in 500-1000 pregnancies  more common at the extremes of reproductive age and is twice
as common in Asian women
• The uterus is often large  early pre-eclampsia and hyperthyroidism may occur  vaginal bleeding is usual
and may be heavy  hyperemesis may occur  the condition may be detected on routine ultrasound
• USS shows a characteristic ‘snowstorm’ appearance of the swollen villi with complete moles, but the diagnosis
can only be confirmed histological  serum hCG may be very high
• Trophoblastic tissue is removed by ERPC and the diagnosis confirmed  bleeding is heavy  serial blood and
urine hCG level are taken with persistent or rising levels being suggestive of malignancy
• Recurrence of molar pregnancy occurs in about 1 in 60 subsequent pregnancies
• Gestational trophoblastic neoplasia followed 15% of complete and 0.5% of partial molar pregnancies
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OBSTETRICS
THE HISTORY AND EXAMINATION IN OBSTETRICS
HISTORY
• Personal details  name, age, occupation, gestation and parity
• Presenting compliant
o Why is she in hospital?  hypertension, pain, antepartum haemorrhage, unstable lie or PROM
o Has the pregnancy been uncomplicated?
• Dates
o Spontaenous or from IVF
o LMP, length of cycle, regular/irregular
o Week’s gestation  if 38 weeks gestation, then 36 weeks conception
o Expected date of delivery (EDD)  subtract 3 months from date of LMP, add 7 days and 1yr (+ days
longer than 28 days if cycle is >28 days  use USS and crown-rump length at 12 week scan (11 – 13+6
week scan)
• Complications of pregnancy
o Any bleeding, HTN, DM, anaemia, urine infections?
o Concerns about foetal growth or other problems?
o Admitted to hospital?
• Tests  what tests have been performed – blood test, USS, prenatal diagnostic testing?
• Past obstetric history (chronologically)  mode and gestation of delivery, birth weight, sex, any complications
o Parity  number of deliveries  miscarriage/termination (+ number)
o Gravidity  number of pregnancies
• Past gynaecological history
o Last cervical smear  treated for abnormal smear
o Prior conception  any problems with conception
o Female genital mutilation  if relevant background
• Past medical history
o Previous operations
o Heart disease
o Hypertension
o Diabetes
o Psychiatric
o Epilepsy
o Other chronic illness
• Systemic review  cardiorespiratoty, abdominal and neurological
• Drugs
o What drugs was she taking at conception?
o What was she taking before?
o What is she taking now?  aspirin and vitamin D
• Family history
o Diabetes
o Pre-eclampsia
o Autoimmune disease
o Venous thromboembolic disease
o Thrombophilia
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o Mental illness
o Inherited disease
• Personal history
o Smoking
o Drinking alcohol
o Drug sensitivity
• Social history
o Social support
o Domestic abuse
o Child safeguarding
• Allergies  penicillin or latex in particular
• VTE risk  fill in routine form if it has not already been done
EXAMINATION
• General examination
o Temperature, pulse rate, oedema and possible anaemia
o Booking visit  BMI, chest, breast, CVS and legs are examined
o Blood pressure and urinalysis
• Mood  should be assessed throughout pregnancy and postnatally
• Abdominal examination  semi-prone, avoiding aortocaval compression  uterus palpable abdominally from
12 weeks  by 20 weeks the fundus is usually at the level of umbilicus  before 20 weeks, a uterus that is
larger than expected could be due to incorrect dates, full bladder, multiple pregnancy, uterine fibroids or
pelvic mass
o Inspection  size of uterus, striae, linea nigra, scars (suprapubic area)  foetal movements may be
obvious is later pregnancy
o Palpation
▪ Is the foetus adequately grown?
▪ Is the liquor volume normal?
▪ Is the lie longitudinal?
▪ Is the presentation cephalic and, if so, is it engaged?
o Auscultation  listen over anterior shoulder (between head and umbilicus)  >28 weeks it should be
heard with a Pinard  110-160 beats/minute
• Step 1  measure the distance of the fundus to the symphysis pubis  >24 weeks the symphysis-fundal
height equates to gestational weeks  2cm  also look for tenderness and uterine irritability
• Step 2  palpated down the foetus towards the pelvis with two hands  palpate foetal parts and estimate
liquour volume  head is hard and can be balloted and the breech is softer and less easy to define  the lie
determines if the foetus is in a longitudinal position or if it is transverse or oblique (pelvis is empty)
• Step 3  assess the presentation but pressing fingers down just above the symphysis pubsis, with a
longitudinal lie you should feel the head or buttocks  engagement of the head is when the widest diameter
descends into the pelvis and described as fifths palpable (<two-fifths palpable then engaged)
THE POSTNATAL HISTORY AND EXAMINATION

HISTORY
• Number of days since delivery
• Delivery
o Gestation
o Mode of delivery  vaginal, instrumental or C-section  why?
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o Mode of onset  spontanoues or induced
o Length of labour and analgesia
o Blood loss?
• Infant
o Name, sex and birth weight
o APGAR score and cord pH
o Mode of feeding
o Vitamin K given?
• History of puerperium
o Lochia  volume and any odour
o Have bowels open and passing urine  difficulty, leaking or dysuria
o Pain?  particularly in the perineum
• Drugs  what is she taking, including analgesia?
• Plans for pueperium
o Contraception  POP if breastfeeding and COCP 4-6 weeks if bottle feeding
o Help avalibale at home?
• History of pregnancy and obstetric history  include parity and major antenatal complications  eg. pre-
eclampsia, DM
• Social/personal history  consider home conditions for neonate
• VTE risk  update risk assessment
EXAMINATION
• Assess mood, appearance, temperature, pulse, BP, anaemia  also examine chest, breasts, wound or IV site
and legs  fever or tachycardia
• Look for uterine involution and palpable bladder  inspect the perineum if there is discomfort
NEONATAL EXAMINATION
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ANTENATAL CARE
AIMS OF ANTENATAL CARE
1. Detect and manage pre-existing maternal disorders that may affect pregnancy outcome
2. Prevent or detect and manage maternal complications of pregnancy
3. Prevent or detect and manage foetal complications of pregnancy
4. Detect congenital foetal problems, if requested by the parents
5. Plan, with the mother, the circumstances of pregnancy care and delivery to ensure maximum safety for the
mother and baby, and maximum maternal satisfaction
6. Provide education and advice regarding lifestyle and ‘minor’ conditions of pregnancy
PRECONCEPTUAL CARE AND COUNSELLING

• Previous pregnancies  could have been traumatic and have implications on another pregnancy
• Health check  assess for cardiovascular health or cervical smear abnormalities
• Rubella status  so immunisation can occur prior to pregnancy
• Chronic condition check  glucose control optimised in diabetes or blood pressure control
• Medication  eg. anti-epileptics
• Folic acid supplements  reduce the chances of neural tube defects
THE BOOKING VISIT

• Booking is at 10 weeks’ gestation  purpose is the screen for possible complications that may arise in
pregnancy, labour and the puerperium  risk is assess using history, examination and standard investigations
• Decisions about pregnancy care must be constant re-evaluated as the pregnancy proceeds  the gestation of
pregnancy should also be checked, appropriate prenatal screening is discussed and a general health check
HISTORY
• Age  <17yrs and >35yrs have an increased risk of obstetric and medical complications in pregnancy 
chromosomal trisomies are more common with advancing age
• History of presenting pregnancy  early USS (usually 11-13+6 weeks) is used to date all except IVF
pregnancies
• Past obstetric history  many obstetric disorders have significant recurrence rates  including preterm
labour, small-for-gestational age, ‘growth restricted’ foetus, stillbirth, antepartum and postpartum
haemorrhage, congenital anomalies, Rhesus disease, pre-eclampsia and gestational diabetes
• Past gynaecological history  past gynaecological surgery may influence delivery recommendations or
increase preterm labour  eg. loop diathermy
• Past medical history  hypertension, diabetes, autoimmune disease, haemoglobinopathy, thromboembolic
disease, cardiac or renal disease  increased risk of pregnancy problems and need input from the
appropriate specialist  past mental illness increases suicide risk
• Drug  contraindicated drugs should be changed to those considered safer in pregnancy  should have
occurred at preconceptual counselling
• Family history  gestational diabetes is more common if a 1st degree relative has diabetes  hypertension,
thromboembolic and autoimmune disease and pre-eclampsia are also familial
EXAMINATION
• BMU is calculated  if >30 maternal and foetal complications are more common
• Baseline BP  enables comparison if hypertension occurs later in pregnancy
• From 12 weeks the foetal heart can be ausculated  but abdominal palpation is hard before 3rd trimester
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• If a smear has not been performed for 3 years  it is usually done 3 months postnatally
BOOKING VISIT INVESTIGATIONS

• Ultrasound scan  11-13 +6 weeks so foetus can be ‘dated’ using crown-rump length, unless IVF pregnancy
 also detects multiple pregnancy and enable screening for chromosomal abnormalities with nuchal
translucency measurement, in conjunction with β-hCG and PAPPA as the ‘combined test’
• Blood tests
o FBC  pre-existing anaemia
o Serum antibodies (anti-D)  intrauterine isoimmunisation
o Glucose tolerance test  in at risk women (>30 BMI)
o Blood tests for syphilis  serious implications on foetus
o Rubella immunity  vaccination offered postnatally
o HIV & HepB  counselling and screening offered
o Haemoglobin electrophoresis  in at risk women  sickle cell anaemia & thalassaemias
• Screening for infections  chlamydia & BV can cause preterm labour
• Urine MC&S  asymptomatic bacteriuria in pregnancy commonly leads to pyelonephritis (20%)
• Urinalysis for glucose, protein and nitrites  underlying diabetes, renal disease and infection
HEALTH PROMOTION
• Folic acid  0.4mg/day should continue until at least week 12  increased doses of 5mg/day in women with
BMI >30, sickle disease, malabsorption or if on anti-epileptics
• Vitamin D  recommended for all women (10µg/day) or 25µg/day in women with BMI >30, South Asian or
Afro-Caribbean origin or with low sunlight exposure or with increased pre-eclampsia risk
• Aspirin  75mg recommended in women with increased pre-eclampsia risk
• Immunisation  seasonal flu vaccine and >28weeks pertussis vaccine
• Diet
o 2500 calories
o No alcohol or smoking
o Avoid Listeriosis by drinking only pasteurised or UHT milk, avoiding soft/blue cheese, pate and
uncooked/partially cooked ready prepared food
• Exercise  advised, with swimming being good
• Sleeping  left lateral position from 28 weeks
• Antenatal classes  prepare and educate women and partners about pregnancy and labour
ROUTINE LATER PREGNANCY TESTS

STRUCTURAL ABNORMALITIES AND RISK ASSESSMENT
• Another USS should be offered around 20 weeks  this is the ‘anomaly scan’  enables detection of most
structural foetal abnormalities
• USS cervical length measurement  around 20 weeks can be used for risk assessment of preterm delivery 
progesterone can be given to women who have a short cervix but are otherwise ‘low risk’
• USS measurement of uterine artery  can be used as screening for IUGR and pre-eclampsia
ROUTINE LATER PREGNANCY TEST

• FBC and antibody assessment  performed at 28 weeks  FBC repeated later if treated for anaemia
• Non-invasive prenatal testing (NIPT)  used to determine if Rhesus –ve mother is carrying a Rhesus +ve baby
 only those with a +ve baby are given anti-D
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CONTINUING ANTENATAL CARE

• Women are seen at increasing intervals through the pregnancy because complications are more common
later in pregnancy  frequency depends on likelihood of complications and on foetal and maternal health
• NICE recommends 10 appointments for uncomplicated pregnancies in a nulliparous women and 7
appointments for uncomplicated pregnancies in a multiparous women  more frequent visits are
appropriate in ‘high-risk’ pregnancies
ANTENATAL VISIT
• Blood pressure and urine dipped at every antenatal visit abdomen is examined, but presentation is variable
and unimportant until 36 weeks  listening to the foetal heart is reassuring  reassessment of prengnayc
risk is undertaken
• 16 weeks  results of screening tests for chromosomal abnormalities and booking blood tests  ‘triple test’
is offered for women who missed chromosomal abnormality testing
• 18-21 weeks  anomaly scan is performed  further scan at 32 weeks if placenta is low
• 25 weeks  only recommended for nulliparous women  exclude onset of pre-eclampsia and GTT if required
• 28 weeks  fundal height is measured  FBC & antibodies checked  anti-D given to Rhesus –ve women
• 31 weeks  fundal height is measured in nulliparous women
• 34 weeks  fundal height is measured  FBC is rechecked if haemoglobin was low
• 36, 38 & 40 weeks  fundal height is measured and foetal lie & presentation are checked  referral for
external cephalic version (ECV) is offered if in breech position
• 41 weeks  fundal height is measure and foetal lie & presentation check  membrane sweeping is offered,
as is induction of labour by 42 weeks
MINOR CONDITIONS IN PREGNANCY

• Itching  common in pregnancy  sclerae are checked for jaundice, LFTs and bile acids assessed
• Pelvic girdle pain  common and causes varying degrees of discomfort in pubic/sacroiliac joints  physio,
corsets, analgesics and even crutches may be used
• Abdominal pain  universal to some degree in pregnancy  usually benign and unexplained
• Heartburn  affects 70% of women and most marked in supine position
• Backache  universal and may cause sciatica  most resolve after delivery
• Constipation  common and exacerbated by oral ion  high fibre intake is needed
• Ankle oedema  common and worsens towards the end of pregnancy  unreliable sign of pre-eclampsia 
diuretics should not be given
• Leg cramps  30% of women  treatments are unproven
• Carpal tunnel syndrome  due to fluid retention compressing the median nerve
• Vaginitis  due to candidiasis  imidazole vaginal perssaries (eg. Clotrimazole) used for symptomatic
infection
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• Tiredness  universal and often incorrectly attributed to anaemia
CONGENITAL ABNORMALITIES AND THEIR IDENTIFICATION

• Congenital abnormalities affect 2% of pregnancies
o Structural derformities  diaphragmatic hernia
o Chromosomal abnormalities  Down’s syndrome
o Inherited disease  cystic fibrosis
o Intrauterine infection  rubella
o Drug exposure  anti-epileptics
METHODS OF PRENATAL TESTING

MATERNAL BLOOD TESTING
• Chromosomal abnormalities  levels of several maternal blood markers can be altered, including Down’s
syndrome  β-hCG, pregnancy associated plasma protein A (PAPP-A), alpha fetoprotein (AFP), oestriol and
inhibin A  results can be integrated with other risk factors and USS measurements (nuchal translucency) to
screen for trisomies 21, 18 and 13
• Non-invasive prenatal diagnosis (NIPT)  free fœtal DNA in maternal circulation allows non-invasive diagnosis
of chromosomal abnormalities  tests take >1 week and are expensive
ULTRASOUND
• USS is used to determine the gestation and pregnancy site and exclude multiple pregnancy
• Nuchal translucency  measures the space between the skin and soft tissue overlying the cervical spine and
the larger it is the higher the risk  measured at dating scan
• Amniocentesis and CVS are performed under USS guidance
• Structural abnormalities are usually diagnosed around 20 weeks at the anomaly scan  congenital
malformations of all organs and systems are detectable  25% can be identified at the time of nuchal
translucency  particularly heart remain undiagnosed even at 20 weeks
• Some abnormalities do not become evident until later because they are not visible or they develop with
gestation  development of polyhydramnios (increased liquor volume) can be the result of foetal
abnormality
FOETAL MRI
• MRI scanning of foetus in utero is used to aid diagnosis of intracranial lesions  better differentiate between
different types of soft tissue
• May also have a role as an alternative to post-mortem examination
3D/4D ULTRASOUND
• 3D or realtime 3D (4D) uses a computer reconstructed 3D ultrasound image  allows better evaluation of
certain abnormalities  being extensively used
AMNIOCENTESIS
• Diagnostic test involving the removal of amniotic fluid using a fine-guage needle under USS guidance
• Safest performed at 15 weeks  it may be done later
• Enable prenatal diagnosis of chromosomal abnormalities  some infections (CMV & toxoplasmosis) and
some inherited disorders (sickle cell, thalassaemia and CF)
• 1% of women miscarry after amniocentesis  most unrelated to the procedure
CHORIONIC VILLUS SAMPLING (CVS)
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• Diagnostic test involving biopsy of the trophoblast by passing a fine-gauge needle through abdominal wall (or
cervix) into the placenta  from 11 weeks
• Results can be obtained earlier than amniocentesis and allows abnormal foetus to be indentified at time when
abortion is usually performed under GA
• Miscarriage rate is slightly higher than amniocentesis  but performed earlier when spontaneous miscarriage
is more common
• For both CVS & amniocentesis  FISH, karyotyping and microarray-CGH is used to identify chromosomal
abnormalities
PREIMPLANTATION GENETIC DIAGNOSIS

• In IVF, cells can be removed from a developing embryo for genetic analysis before it is transferred into the
uterus  allows selection of only embryos that will not be affected by the disorder for which it is being tested
• Technique is expensive and presents ethical dilemmas  but has been used in prenatal diagnosis of sex-
linked disorder, trisomies, autosomal dominant & recessive condition
• It does require IVF  even in couples who are fertile
CHROMOSOMAL ABNORMALITIES
• These affect 6 per 1000 live births  much more common in early pregnancy, but cause miscarriage
• The combined test  integrates the risk from maternal age, with PAPP-A and β-hCG blood tests, with nuchal
translucency at dating scan  performance of test can be enhanced using other risk factors – eg. absence of
nasal bone and tricuspid regurgitation
• The quadruple test  booking is too late for nuchal scan or it is technically not possible (BMI)  comprises a
blood test (14-22 weeks), integrating the risk from maternal age with that calculated from AFP, total hCG,
inhibin and oestriol
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INFECTIONS IN PREGNANCY
• Infections assume a particular importance in pregnancy is several ways
o Maternal illness  may be worse, as with varicella
o Maternal complications  as with pre-eclampsia in HIV +ve women, may be more common
o Preterm labour  associated with infections
o Vertical transmission  innocuous infections can cause miscarriage, be teratogenic or damage
developing organs
o Neurological damage  more common in the presence of bacterial infection in both preterm and
term babies
o Antibiotics  usage in pregnancy is occasionally limited by adverse effects to the foetus
VIRUSES
CYTOMEGALOVIRUS
• Pathology  CMV is a herpesvirus and transmitted by personal contact  35% of women in UK are immune
 1% develop CMV infection in pregnancy (subclinical)  common cause of childhood handicap or deafness
• Foetal/neonatal effects  vertical transmission occurs in 40%  10% of infected neonates are symptomatic
at birth – with IUGR, pneumonia and thrombocytopenia  most develop severe neurological sequelae, such
as hearing, visual and mental impairment  asymptomatic neonates are at risk of deafness (15%)
• Diagnosis  USS abnormalities are evident in 20% (intracranial or hepatic calcification)  most infections are
diagnosed when being specifically tested for  CMV IgM remains +ve for a long time after infection and could
predate the pregnancy  titres will risk and IgG avidity will be low with recent infection  if maternal
infection is confirmed, then amniocentesis at least 6 weeks after maternal infection will confirm or refute
vertical transmission
• Management  most infected neonates are not seriously affects  USS can help determine those most at
risk  no prenatal treatment and termination may be offered  routine screening is not advised and no
vaccine is available
HERPES SIMPLEX
• Pathology  type 2 DNA virus causes genital herpes  <5% of pregnant women have history of prior
infection, but many have antibodies
• Foetal/neonatal effects  HSV is not teratogenic and neonatal infection is rare, but has a high mortality 
vertical transmission occurs at vaginal delivery, particularly in vesicles are present  most like to follow
recent primary maternal infection as the foetus will not have passive immunity from maternal antibodies
• Diagnosis  usually clear clinically and swabs are of little use in pregnancy
• Management  referral to GUM  C-section is recommended for those delivering within 6 weeks of primary
attack and those with genital lesions  risk is very low in recurrent herpes who have vesicles at the time of
labour, so C-section is not recommended  daily aciclovir in late pregnancy may reduce the frequency of
recurrences at term  exposed neonates are given aciclovir
HERPES ZOSTER
• Pathology  primary infection with DNA herpesvirus causes chickenpox and reactivation causes shingles 
women who are not immune to zoster can develop chickenpox after exposure to chickenpox or shingles 
rare in pregnancy (0.03%), but can cause severe maternal illness
• Foetal/neonatal effects  teratogenicity is rare (1-2%) in early pregnancy infection and is treated immediately
with oral aciclovir  maternal infection in 4 weeks preceding delivery can cause severe neonatal infection 
most common if delivery occurs within 5 days after or 2 days before maternal symptoms
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• Management  immunoglobulin is used to prevent and aciclovir to treat  pregnant women exposed to
zoster are tested for immunity and immunoglobulin given within 10 days if non-immune or aciclovir given if
infection occurs  in late pregnancy is delivery is 5 days after or 2 days before maternal symptoms then
neonate are given immunoglobulins and aciclovir if infection occurs  vaccination is possible
RUBELLA
• Pathology  rubella virus usually affects children and causes mild febrile illness with macular rash 
congenital rubella is very rare in UK as there is widespread immunity  <10 affected neonates are born every
year  immunity is life long
• Foetal/neonatal effects  maternal infection in early pregnancy causes multiple foetal abnormalities –
including deafness, cardiac disease, eye problems and mental retardation  probability and severity
decreases with gestation
• Management  if non-immune women develops rubella <16 weeks then termination is offered  screening
remains routine at booking  vaccine is live and contraindicated in pregnancy
PARVOVIRUS
• Pathology  B19 infects 0.25% of pregnant women, but 50% are immune  ‘slapped cheek’ appearance is
classical, but may have arthralgia or be asymptomatic  infection usually from children
• Foetal/neonatal effects  viruses suppresses foetal erythropoiesis causing anaemia  variable degress of
thrombocytopenia can also occur  foetal death in 10% of pregnancy, usually with infection <20 weeks
• Diagnosis  if maternal exposure or symptoms have occurred, +ve maternal IgM testing will prompt foetal
surveillance  anaemia is detectable on USS as increased blood flow velocity in foetal MCA and subsequent
oedema (hydrops) from cardiac failure  spontaneous resolution of anaemia and hydrops occurs in 50%
• Management  moths infected are scanned regularly to look for anaemia  if hydrops is detected in utero
transfusion can be given if this is severe  excellent prognosis in survivors
HEPATITIS B
• Pathology  caused by small DNA virus and transmitted by blood products or sexual activity  infection
resolves in 90% of adults, but persists in 10%  infectious state is present in 1% of women in the West  the
degree of infectivity depends on antibody status – HbsAB +ve indiviudals are immunologically cured and of
low infectivity to others and foetus  HBsAg +ve/HBeAG +ve are more infectious
• Foetal/neonatal effects  vertical transmission occurs in delivery  90% of infected neonates become
chronic carriers, compared to 10% of adults
• Management  maternal screening is routine in UK  neonatal immunisation reduces the risk of infection by
>90% and given to all +ve women  women with high viral loads and treated with antiviral agents from 32
weeks and passive immunisation given postnatally to neonate
HEPATITIS C
• 0.5% of pregnant women are infected in the UK  worldwide incidence of 3% and 30% in HIV +ve
• Main risk factors  drug abuse and sexual transmission
• Hep C leads to chronic hepatitis in 80%  but most pregnant women are asymptomatic
• Vertical transmission of HCV occurs in 3-5%, but higher if large viral load or co-existing HIV
• Elective C-section, avoidance of breast feeding and administration of immunoglobulin do not reduce vertical
transmission to neonate
• Screening is restricted to high risk groups
HUMAN IMMUNODEFICIENCY VIRUS
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• Epidemiology  approx. 1000 pregnancies a year are infected by the retrovirus  causes AIDS 
heterosexual transmission in now the most important route with a risk of <1% per episode of sexual
intercourse
• Maternal effects  pregnancy does not hasten progression to AIDS  incidence of pre-eclampsia is greater
and may be increased by anti-retroviral therapy  gestational diabetes may also be more common
• Neonatal/foetal effects  stillbirth, pre-eclampsia, growth restriction and prematurity are more common 
vertical transmission is mostly beyond 36 weeks, intrapartum or during breastfeeding  transmission is
greater with low CD4 counts and high viral load, coexistent infection, premature delivery and during labour –
particularly with ruptured membranes for >4hrs  25% of HIV infected neonates will develop AIDS in 1yr and
40% in 5 yrs
• Management  screening is universal  +ve women should have regular Cd4 and viral load tests 
prophylaxisa against PCP is given if the CD4 count is low  drug toxicity is monitored with liver and renal
function, haemoglobin and blood glucose testing  highly active anti-retroviral therapy (HAART) reduces
viraemia and maternal disease progression and should be continued throughout pregnancy and delivery, with
the neonate treated for first 6 weeks  if women is not receiving pre-pregnancy treatment then it is started
at 28 weeks  C-section is recommended if viral load is above 50 copies/ml and there is coexistent hepatitis
C infection  breastfeeding is avoided
INFLUENZA
• Maternal effects  the pandemic influenza A H1N1 (swine flu) particularly affects pregnancy women 
especially those with comorbidity include obesity
• Neonatal effects  no known adverse effects
• Management  if symptoms are present then oseltamivir should be prescribed and admission considered if
there is respiratory symptoms  seasonal, yearly vaccination with an inactivated vaccine is strongly
recommended for pregnant women at any gestation
ZIKA
• Declared a public health emergency in 2016 following outbreaks in multiple countries
• There is a likely link with foetal CNS abnormalities in maternal infection during 1st & 2nd trimester
o Intracranial calcification
o Ventriculomegaly
o Microcephaly
• Transmitted by the Aedes mosquito  maternal symptoms are mild and include rash and fever, but also
Guillian-Barre syndrome
• Virus can be detected by PCR, but antibody testing is currently unreliable due to cross-reactivity
• Pregnant women should be advised not to travel to countries affected by outbreaks
BACTERIA, PARASITES AND OTHERS

GROUP A STREPTOCOCCUS
• Bacterium traditionally responsible for puerperal sepsis  most common bacterium associated with maternal
death
• Group A streptococcus (Streptococcus pyogenes) is carried by 5-30% of people  most common symptom is
sore throat
• Infections during pregnancy is usually from children  from maternal hand to perineal contamination
• Chorioamnionitis with abdominal pain, diarrhoea and severe sepsis may occur  infected foetus often dies in
utero and labour will then usually ensue
• Early recognition, cultures and high dose antibiotics ± ICU is required
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GROUP B STREPTOCOCCUS
• Pathology  bacterium Streptococcus agalactiae is carried without symptoms by 25% of pregnant women
• Neonatal effects  foetus can be infected during labour after the membrane ruptures  most common with
preterm labour, if labour is prolonged or there is maternal fever  early onset neonatal GBS sepsis occurs in
0.35/1000 neonates in the UK  causes severe illness and has mortality rate of 6% in term infants and 18% in
preterm infants
• Management  vertical transmission can be mostly prevented by high-dose IV penicillin throughout labour 
in UK treatment is only used if risk factors for GBS vertical transmission are present or if found incidentally:
o Previous affected neonate
o Positive urinary culture for GBS
o Preterm labour
o Ruptured membrane for >18hrs
o Maternal fever in labour
SYPHILIS
• STI due to Treponema pallidum  rare in pregnant women in the UK (0.02%)
• Active disease in pregnancy causes miscarriage, severe congenital disease or stillbirth
• Prompt treatment with benzylpenicillin is safe and will prevent, but not reverse, foetal damage
• Screening tests (VDRL) are still in routine use
TOXOPLASMOSIS
• Pathology  due to the protozoan parasite Toxoplasma gondii  follows contact with cat faeces or soil or
eating infected meat  in UK, 20% of adult have antibodies  infection in pregnancy occurs in 0.2% of
women in the UK
• Foetal/neonatal effects  foetal infections follows in 30%  more common as the pregnancy progresses, but
earlier infection causes more severe sequelae
o Mental handicap
o Convulsions
o Spasticities
o Visual impairment
• Diagnosis  USS may show hydrocephalus, but maternal infection is usually diagnosed due to exposure or
anxiety  vertical transmission is diagnosed or excluded via amniocentesis after 20 weeks
• Management  health education reduces maternal risk  Spiramycin is started as soon as women is
diagnosed  additional combination therapy of pyrimethamine and sulfadiazine with folinic acid is given is
vertical transmission confirmed
LISTERIOSIS
• Caused by Listeria monocytogenes  Gram +ve bacillus  infection can follow consumption of pate, soft
chesses and prepacked meals
• Causes non-specific febrile illness  bacteraemia occurs in pregnancy  potentially fatal infection of the
foetus may follow
• Diagnosis is established from blood cultures  prevention is key
CHLAMYDIA & GONORRHOEA

• Chlamydia is caused by Chlamydia trachomatis  occurs in 5% of pregnant women
• Gonorrhoea is caused by Neisseria gonorrhoeae  occurs in 0.1% of pregnant women
• Most women are asymptomatic  best known as causes of PID and subfertility  both have association with
preterm labour and neonatal conjunctivitis
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• Chlamydia is treated with azithromycin or erythromycin  tetracyclines cause foetal tooth discolouration
• Gonorrhoea is treated with cephalosporins
BACTERIAL VAGINOSIS
• Common overgrowth of normal vaginal lactobacilli by anaerobes  such as Gardnerella vaginalis and
Mycoplasma hominis
• Can be asymptomatic or cause offensive vaginal discharge  preterm labour and late miscarriage is common
• Treatment with oral clindamycin  reduces the risk of preterm birth if used <20 weeks
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HYPERTENSIVE DISORDERS IN PREGNANCY

NORMAL BLOOD PRESSURE CHANGES IN PREGNANCY
• Blood pressure normally falls to a minimum level in the 2nd trimester  by about 30/15mmHg because of
reduced vascular resistance  occurs in both normotensive and chronically hypertensive women  by term,
the blood pressure rises again to pre-pregnant levels
• Hypertension due to pre-eclampsia is largely caused by an increase in systemic vascular resistance
• Protein excretion is increased in normal pregnancy  but in the absence of underlying renal disease is less
than 0.3g/24hrs
CLASSIFICATION OF HYPERTENSIVE DISORDERS IN PREGNANCY

PREGNANCY-INDUCED HYPERTENSION
• This is when the blood pressure rises above 140/90mmHg after 20 weeks  can be due to pre-eclampsia or
transient hypertension
• Pre-eclampsia is a disorder in which hypertension and proteinuria (>0.3g/24hrs) appear in the 2 nd half of
pregnancy, often with oedema  eclampsia/epileptiform seizures are just a complication
• Occasionally, proteinuria is absent in pre-eclampisa, particularly early in pregnancy  can be hard to
distinguish from gestational hypertension
• Gestational hypertension  new hypertension presenting after 20 weeks without proteinuria
PRE-EXISTING OR CHRONIC HYPERTENSION

• This is present when the blood pressure is >140/90mmHg before pregnancy or before 20 weeks gestation or
the women is already on hypertensive treatment
• This may be primary hypertension or secondary to renal or other disease  may also be pre-existing
proteinuria because of renal disease
• Patients with underlying hypertension are at an increased risk of ‘superimposed’ pre-eclampsia
PRE-ECLAMPSIA
• Pre-eclampsia is a multisystem syndrome that is usually manifest as new hypertension after 20 weeks with
significant proteinuria  it is specific to pregnancy, of placental origin and cured only by delivery
• Blood vessel endothelial cell damage leads to vasospasm, increased capillary permeability and clotting
dysfunction  both the foetus and mother are at risk
• Hypertension is just a sign rather than the disease itself  both hypertension and proteinuria can be absent
until late stages
• Two phenotypes exist
o Early-onset  that which causes complications before 34 weeks  typically the foetus is growth
restricted
o Late-onset  manifest at any later gestation  not usually associated with growth restriction,
although foetal death and damage may occur
PATHOPHYSIOLOGY
1st step (poor placenta perfusion)
• In normal pregnancy  trophoblastic invasion of spiral arterioles leads to vasodilation of vessel walls to allow
adequate placenta perfusion
• In early onset PE  this is incomplete causing oxidative stress  the effects can be detected as high-
resistance flow in uterine arteries
• In late onset PE  as growth of an apparently normal placenta reaches its limits  intervillous perfusion may
reduce because terminals become over-crowded  causing oxidative stress
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2nd step
• Both mechanisms cause the oxidative stressed placenta to oversecrete proteins that regulate angiogenic
balance  this can be detected as increased sFlt-1 and reduced PIGF levels in the maternal blood
• Widespread endothelial cell damage may follow  causing vasoconstriction, increased vascular permeability
and clotting dysfunction  these cause the clinical manifestations of the disease
CLASSIFICATION
• Pre-eclampsia is new hypertension presenting after 20 weeks with significant proteinuria
• Severe pre-eclampsia is pre-eclampsia with severe hypertension and/or with symptoms and/or biochemical
and/or haematological impairment
• Hypertension is classified as
o Mild  140/90 – 149/99mmHg
o Moderate  150-100 – 159/109mmHg
o Severe  >160/110mmHg
• Classifications of pre-eclampsia can vary  the ones below encompass the principles and diversity of the
disease
o Mild or moderate  pre-eclampsia without severe hypertension and no symptoms and no
biochemical or haematological impairment
o Severe  pre-eclampsia with severe hypertension and/or with symptoms, biochemical or
haematological impairment
o Early  <34 weeks
o Late  >34 weeks
EPIDEMIOLOGY
• Pre-eclampsia affects 6% of nulliparous women  it is less common in multiparous women unless additional
risk factors are present
• There is an approx. 15% recurrence risk  this is up to 50% if there has been severe pre-eclampsia before 28
weeks
AETIOLOGY
• Predisposing factors include
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o Nulliparity
o A previous or family history of pre-eclampsia
o Long interpregnancy interval
o Obesity
o Extremes of maternal age (>40yrs)
o Disorders characterised by microvascular disease (chronic hypertension, chronic renal disease, sickle
cell disease, diabetes, autoimmune disease, anti-phospholipid syndrome
o Pregnancies with a large placenta  twins, foetal hydrops or molar pregnancy
CLINICAL FEATURES
• Pre-eclampsia is usually asymptomatic  possible symptoms include
o Headache
o Drowsiness
o Visual disturbance
o Nausea/vomiting
o Epigastric pain  later stage
• Hypertension is usually the first sign  massive oedema is also found in pre-eclampsia, not postural or of
sudden onset
• The presence of epigastric tenderness is suggestive of impending complications
• Urine dipstick testing for protein should be considered part of the clinical examination
COMPLICATIONS
Maternal
• Early-onset disease is most severe  occurrence of any of the following complications, which may occur
together, is an indication for delivery whatever the gestation  they may also occur postpartum as it takes at
last 24hrs for delivery to cure the disease
• Eclampsia  grand mal seizure resulting from cerebrovascular vasospasm  mortality can result from
hypoxia and concomitant complications of severe disease  treatment is magnesium sulphate and intensive
surveillance for other complications
• Cerebrovascular haemorrhage  results from a failure of cerebral blood flow autoregulation at MABP
>140mmHg  treatment of hypertension should prevent this
• Liver and coagulation problems  HELLP syndrome  DIC, liver failure
and liver rupture may also occur  treatment is supportive and
includes magnesium sulphate prophylaxis against eclampsia  liver
infarction or subcapsular haemorrhage may occur
• Renal failure  identified by careful fluid balance monitoring and creatinine measurement  haemodialysis is
required in severe cases
• Pulmonary oedema  severe pre-eclampsia is particularly vulnerable to fluid overload  pulmonary oedema
is treated with oxygen & furosemide and assisted ventilation may be required  ARDS may develop
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Foetal
• Perinatal mortality and morbidity of the foetus are increased  pre-eclampsia accounts for about 5% of still-
births and up to 10% of preterm deliveries
• In early-onset pre-eclampsia  the principal problem is growth restriction  preterm delivery is often
required, although spontaneous preterm labour is also more common
• At term  pre-eclampsia affects foetal growth less, but is still associated with increased morbidity and
mortality  at all gestations there is an increased risk of placental abruption
INVESTIGATIONS
• If bedstick urinalysis is +ve, the protein is quantified  24hr urine or protein:creatinine ratio is used  a level
of 30mg/nmol is roughly equivalent to 0.3g/24hr protein excretion  proteinuria may be absent in early
disease and testing for proteinuria is repeated
• Blood tests are taken to show elevation of uric acid  the Hb is often high  a rapid fall in platelets due to
aggregation on damaged endothelium indicates impending HELLP
• A rise in LFTs (ALT) suggests impending liver damage or HELLP  LDH levels rise with liver disease and
haemolysis
• Renal function is often mildly impaired  a rapidly rising creatinine suggests severe complications and renal
failure
• To monitor foetal complications an USS helps estimate foetal weight at early gestations and is used to assess
foetal growth  umbilical artery Doppler and CTG are required to evaluate foetal well-being
SCREENING AND PREVENTION

• Early prediction  most common screening test is uterine artery Doppler at 20 weeks  the sensitivity for PE
at any stage in pregnancy is about 40% for a 5% screen-positive rate  for early-onset PE the figures are
much better
• Late prediction  the ratio of sFlt-1 to PIGF in maternal blood later in pregnancy  particularly in women
with mild hypertension  useful in determining who will actually develop pre-eclampsia
• Prevention  low-dose aspirin (75mg) before 16 weeks (evening) reduces the risk of pre-eclampsia and is
now NICE recommended  high-dose vitamin D with Ca2+ supplementation might also be effective
MANAGEMENT
Assessment
• Women with new hypertension >140/90mmHg are assessed in day assessment unity  sFlt-1:PIGF ratio
assays may determine who is at higher risk
• Patients without proteinuria and with mild or moderate hypertension are usually managed as outpatients 
BP and urinalysis repeated 2/week  USS 2-4 weeks unless suggestives of foetal compromise
Admission
• Necessary with severe hypertension and presence of proteinuria  if hypertension absent, but proteinuria
≥30 or >0.3g/hr they should be admitted
• Assessment using sFlt-1:PIGF assay may determine which women are most at risk and should be admitted
Drugs in Pre-eclampsia
• Anti-hypertensives  given in BP reaches 150/100mmHg  Labetalol maintenance is recommended  oral
nifedipine is used for initial control, with IV labetalol as 2nd line with severe hypertension  aim for BP is
140/90mmHg  do not change the course of PE, but increase maternal safety and can prolong pregnancy
affected preterm
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• Magnesium sulphate  used in both treatment and prevention  IV loading dose followed by IV infusion 
increased cerebral perfusion so treats underlying pathology of eclampsia  is required then delivery is
indicated  toxicity is severe resulting in respiratory depression, hypotension, loss of patellar reflex
• Steroids  used to promote foetal pulmonary maturity if the gestation is <34 weeks
Delivery
• Women with pre-eclampsia should be delivered by 36 weeks  diagnosis after this time should prompt
delivery
• Clinical deterioration or maternal complications or reduced SVT on CTG will prompt delivery  can therefore
be extremely preterm
• As a general rule  1 or more foetal/maternal complications are likely to occur within 2 weeks of the onset of
proteinuria
• Women with gestational hypertension should be delivered by 40 weeks as usual  as long as foetal
compromised is monitored
• C-section is usual delivery  epidural will help reduce blood pressure
o Before 34 weeks
o If severe growth restriction
o Abnormal CTG
o After 34 weeks  labour can be induced with prostaglandin
• Anti-hypertensives should be used in labour
• Maternal pushing should be avoided in 2nd stage is BP is 160/110mmHg
• Oxytocin instead of ergometrine should be used in 3rd stage and the latter can increase BP
Postnatal Care
• Highest BP is usually reached 4-5 days after birth  postnatal treatment is with a beta-blocker, with
nifedipine and ACE-i 2nd line
• Treatment may be needed for several weeks
PRE-EXISTING HYPERTENSION IN PREGNANCY

• Diagnosed when BP is already treated or exceeds 140/90mmHg before 20 weeks  underlying hypertension
is present in 5% of pregnancies  it is more common in
o Older women
o Obese women
o Positive family history
o Developed HTN on COCP
• Primary/idiopathic hypertension is the most common cause  secondary hypertension is commonly
associated with
o Obesity
o Diabetes
o Renal disease  ADPKD, renal artery stenosis or chronic pyelonephritis
o Phaechromocytoma
o Cushing’s syndrome
o Cardiac disease
• Symptoms are usually absent  hypertension occurs late in pregnancy
• Renal function is assessment and renal USS performed  phaechromocytomia is excluded  quantification
of any proteinuria and uric acid level allow comparison in later pregnancy
474
• Ideally, medication will be changes before pregnancy
o ACE-i  teratogenic and affect foetal urine production
o Labetalol  normally used
o Nifedipine  2nd line
• Medication may not be needed in the 2nd trimester because of the physiological fall in BP
• The pregnancy is treated as ‘high-risk’  low dose aspirin is advised  screening using uterine artery Doppler
and additional antenatal visits are usual
• Delivery is usually undertaken at 38-40 weeks  although the benefits of this are debated
475
OTHER MEDICAL DISORDERS IN PREGNANCY

DIABETES AND GESTATIONAL DIABETES
PHYSIOLOGY
• Glucose tolerance decreases in pregnancy due to altered carbohydrate metabolism and the antagonistic
effects of human placental lactogen, progesterone and cortisol
• Pregnancy is ‘daibetogenic’  women without diabetes, but with impaired or potentially impaired glucose
tolerance often ‘deteriorate’ enough to be classified as diabetic in pregnancy  gestational diabetes
• Even slightly increased glucose levels have adverse pregnancy effects  there are reduced by treatment 
so the definition and diagnosis are driven by the levels at which treatment is beneficial
• The kidneys of non-pregnant women start to excrete glucose at a threshold level of 11mmol/L  in
pregnancy, this varies more but often decreases, so glycosuria may occur at physiological blood glucose
concentrations  so urinalysis for glycosuria is not a useful diagnostic test
• Raised foetal blood glucose levels induce foetal hyperinsulinaemia  causing foetal fat deposition and
excessive growth (macrosomia)
DEFINITIONS
• Pre-exisiting diabetes  affects at least 1% of pregnany women  in those on insulin, increasing amounts will
be required in these pregnancies to maintain normoglycaemia
• Gestational diabetes  ‘carbohydrate intolerance’ which is diagnosed in pregnancy, which may or may not
resolves after pregnancy  becoming more common, largely because of the increasing prevalence of obesity
and varying diagnostic thresholds
• NICE stipulate a fasting glucose level ≥5.6mmol?l or >7.8mmol 2hrs after a 75g glucose load (GGT) to diagnose
gestational diabetes  depending on criteria used, up to 16% of pregnant women will develop gestational
diabetes
FOETAL COMPLICATIONS
• Congenital abnormalities (particularly NTD)  3-4 times more common in women with established diabetes
and are related to periconceptual glucose control
• Preterm labour  (natural or induced) occurs in >10% of women with established diabetes
• Foetal lung maturity  is less than with non-diabetic pregnancies
• Birthweight  increased as foetal pancreatic islet cell hyperplasia leads to hyperinsulinaemia and fat
deposition  this leads to increased urine and polyhydramnios
• Dystocia & birth trauma  baby tends to be larger  related particularly to poor 3rd trimester glucose control
MATERNAL COMPLICATIONS
• Insulin requirements  increase by up to 300% by the end of pregnancy
• Ketoacidosis  rare, but hypoglycaemia may result from attempts to achieve optimum glucose control
• Urinary tract infection
• Wound or endometrial infection  after delivery are more common
• Hypertension & pre-eclampsia  more common
• Pre-exisiting ischaemic heart disease  often worsens
• C-section or instrumental delivery  more likely because of foetal complications due to compromise and size
• Diabetic nephropathy (5-10%)  associated with poorer foetal outcomes  can leads to massive proteinuria
and deterioration of maternal renal function
• Diabetic retinopathy  often deteriorates in pregnancy  may need to be treated
MANAGEMENT OF DIABETES IN PREGNANCY
476
• Precise glucose control and foetal monitoring are key in diabetes in pregnancy
• Preconceptual care
o Glucose levels need to be optimum at conception to reduce risk of foetal complications  HbA1c
should be <6.5% and pregnancy not advised is >10%  fasting glucose levels should be 4-7mmol/L if
achievable without hypoglycaemia  metformin and insulin are appropriate, but other
hypoglycaemic agents needs to be stopped
o 5mg of folic acid will be given
o Statins stopped and anti-hypertensives (labetalol/methyldopa) given instead
o Renal function (creatinine <120µmol/L), BP and retinae are assessed
• During pregnancy the aim for a fasting level of <5.3mmol/L and 1hr level <7.8mmol/L
• The renal function should be checked and the retinae screening for retinopathy  if abnormal, this needs to
be repeated every trimester
• Aspirin (75mg) daily from 12 weeks is advised to reduce the risk of pre-eclampsia
• Foetal monitoring
o Foetal echocardiography is indicted
o USS to monitor growth and liquor volume at 32 & 36 weeks
• Delivery at 37-39 weeks is advised  birth trauma is more likely  C-section is used where estimated foetal
weight is >4kg  during labour, glucose levels are maintained with a ‘sliding scale’ of insulin and dextrose
infusion
• The neonate commonly develops hypoglycaemia as it has become accustom to hyperglycaemia and therefore
has high insulin levels  levels should be checked within 4hrs  breastfeeding is strongly advised
GESTATIONAL DIABETES
• Screening using pre-existing risk factors  these women are given a GTT at 24-28 weeks
o Previous large baby (>4.5kg)
o Unexplained stillbirth
o 1st degree relative with diabetes
o BMI >30kg/m2
o Minority ethnic family origin
o Previous gestational diabetes
• Screening is also done is women with pregnancy factors  eg. polyhydramnios or persistent glycosuria
• HbA1c levels are checked to identify pre-existing diabetes  target levels are the same as in pre-existing
diabetes
• Initially managed with diet and exercise advise  if not maintaining glucose control then metformin and/or
insulin is added  if fasting level is >7mmol/L then diet will not be adequate
• Women should be managed as for pre-existing diabetes  however, well controlled gestational diabetes do
not need to deliver before 41 weeks
• Treatment should be discontinued postnatally  but fasting glucose should be measured at 6 weeks
postnatal due to increased risk of T2DM  more than 50% will become diabetic within the next 10 years
CARDIAC DISEASE
• In pregnancy, there is a 40% increase in cardiac output  due to increase in stroke volume and heart rate and
a 40% increase in blood volume  there is also a 50% decrease in systemic vascular resistance, so BP often
drops in 2nd trimester but has returned to normal by term
• The increased blood flow produces a flow (ejection systolic) murmur in 90% of women  ECG is also altered
during pregnancy and shows left axis shift and inverted T waves
477
• Cardiac disease affects 0.3% of pregnant women  the maternal risk is dependent on cardiac status and most
encounter no problems  however, cardiac disease is the leading cause of maternal death in the UK and a
major cause of morbidity
• Increased CO acts as an ‘exercise test’ with which the heart may be unable to cope  this usually manifests
>28 weeks of soon after labour with decompensation in association with blood loss and fluid overload  fluid
overload can also occur in early puerperium as the uterine involution squeezes a large fluid load into the
circulation
• Patients should be assessed pre-pregnancy  cardiac assessment include echo are required  some drugs
are contraindicated including ACE-I and warfarin  hypertension is often managed by beta-blockers and
thromboprophylaxis by LMWH
• In labour fluid balance is important  elective epidural analgesia reduces afterloads  elective forceps
delivery helps avoid the additional stress of pushing in severe cases
• Foetal cardiac abnormalities are more common (3%)  best detected on USS at 20 weeks gestation
TYPES OF CARDIAC DISEASE

• Mild abnormalities  eg. mitral valve prolapse, PDA, uncomplicated VSD/ASD  do not usually cause
complications
• Pulmonary hypertension  eg. Eisemenger’s syndrome  because of high maternal mortality (20%),
pregnancy is contraindicated and a termination is offered
• Cyanotic heart disease without pulmonary hypertension  usually corrected but there is a particular risk of
paradoxical embolism  anti-coagulation is advised
• Aortic stenosis  severe disease causes an inability to increase CO when required and should be corrected
before pregnancy  beta-blockade is often used  epidural analgesia is contraindicated in the most severe
cases  anti-coagulation is required for mechanical aortic valves
• Mitral valve disease  should be treated before pregnancy  in severe cases (stenosis), heart failure may
develop late in pregnancy  beta-blockade is used  artificial metal valves are prone to thrombosis, so anti-
coagulation is indicated
• Myocardial infarction  unusual, but become more frequent  mortality is greater at later gestations
• Peripartum cardiomyopathy  rare (1 in 3000) cause of heart failure and specific to pregnancy  develops in
the last month or first 6 months after pregnancy  frequently diagnosed late  cause of maternal death (risk
15%) and in more than 50% leads to permanent LV dysfunction  treatment is supportive with diuretics and
ACE-I  there is a significant recurrence rate if subsequent pregnancies
RESPIRATORY DISEASE
• Tidal volume increased by 40% in pregnancy  although there is no change in respiratory rate
• Asthma is common in pregnancy  it has a variable effect on the disease  drugs should not be withheld
because they are safe and a severe asthma attack is life threatening  well controlled asthma will have little
detrimental effect
• Women on long-term steroids require an increased dose in labour because the chronically suppressed adrenal
cortex is unable to produce adequate steroids for the stress of labour
EPILEPSY
• Epilepsy affects 0.5% of pregnant women  seizure control can deteriorate in pregnancy  particularly in
labour
• Epilepsy is a significant cause of maternal death  anti-epileptic treatment should be continued  however,
the risk of congential abnormalities (NTD) is increased (4% overall) which is largely due to drug therapy  risk
as dose dependent, higher with multiple drug usage and certain drugs (eg. sodium valproate)
478
• The new born has a 3% risk of developing epilepsy
• Management involves seizure control with as few drugs as possible at the lowest dose  together with folic
acid (5mg/day)  sodium valproate should be avoided, carbamazepine and lamotrigine are safest  vitamin
K is given orally from 36 weeks for women on enzyme-inducing anti-epileptics
THYROID DISEASE
• Thyroid status does not alter in pregnancy  although iodine clearance is increased  goitre is more
common
• Foetal thyroxine production starts at 12 weeks  before it is dependent on maternal thyroxine  maternal
TSH is increased in early pregnancy
• Hypothyroidism  affect 1% of pregnant women and commonly due to Hashimoto’s thyroiditis or thyroid
surgery  untreated disease is rare as it leads to anovulation, but is associated with a high perinatal morality
 even subclinical hypothyroidism is associated with miscarriage, preterm delivery and intellectual
impairment in childhood  also associated with an increased risk of pre-eclampsia, particularly in anti-
thryozine antibodies are present  replacement with thyroxine is important and TSH levels are measured
every 6 weeks  in normal pregnancy the TSH levels are decreased
• Hyperthyroidism  affects 0.2% of pregnant women and commonly due to Graves’ disease  untreated
disease is rare as anovulation is usual, but inadequately treated disease increases perinatal mortality  anti-
thyroid antibodies can cross the placenta and cause neonatal thyrotoxicosis and goitre  for the mother,
thyrotoxicosis may improve in late pregnancy, but poorly controlled disease can lead to a ‘thyroid storm’ 
hyperthyroidism is treated with propylthiouracil (PTU) in the 1st trimester rather than carbimazole, but it can
cross the placenta and cause neonatal hypothyroidism  Graves’ disease often worsens postpartum
• Postpartum thyroiditis  this is common (5-10%) and cause postnatal depression  risk factors include anti-
thyroid antibodies and T1DM  there is usually a transient and subclinical hyperthyroidism at about 3
months postpartym followed by about 4 months by hypothyroidism  this is permanent in 20%
LIVER DISEASE
ACUTE FATTY LIVER
• Very rare (1 in 9000) but serious condition that is part of the spectrum of pre-eclampsia
• Acute hepatorenal failure, DIC and hypoglycaemia lead to a high maternal and foetal mortality
• There is extensive fatty changes in the liver  malaise, vomiting, jaundice and vague epigastric pain are early
features  while thirst may occur weeks earlier
• Early diagnosis and prompt delivery are essential  correction of clotting defects and hypoglycaemia are
needed first
• Treatment is then supportive  further dextrose, blood products, careful fluid balance and occasionally
dialysis  the recurrence rate is low
INTRAHEPATIC CHOLESTASIS OF PREGNANCY

• Multifactorial condition characterised by
o Unexplained pruritus
o Abnormal LFTs
o Raised bile acids
o Resolves after delivery
• Due to abnormal sensitivity to the cholestatic effects of oestrogen  occurs in 0.7% of women, is familial and
tends to reoccur (50%)
• Traditionally associated with increased risk of stillbirth, meconium passage and postpartum haemorrhage 
stillbirth is thought to be due to the toxic effects of bile salts
479
• Ursodeoxycholic acid (UDCA) helps relieve itching and may reduce the obstetric risks by reducing bile acid
levels
• Due to high risk of maternal and foetal haemorrhage  vitamin K 10mg/day is given form 36 weeks
• Induction of labour is often offered  no clear guidance exists on delivery, but induction at 40 weeks is
common or 38 weeks if bile acid levels are high
• Six week follow up is indicated to ensure liver function returns to normal
RENAL DISEASE
• In pregnancy, the GFR increases by 40% causing urea and creatinine levels to decrease
CHRONIC KIDNEY DISEASE

• Affects 0.2% of pregnant women  foetal and maternal complications are dependent on the degree of
hypertension and renal impairment  pregnancy is considered very high risk if the creatinine level is
>200mmol/L
• Renal function often deteriortates late in pregnancy  this is more common in severe disease  can lead to
permanent deterioration
• Proteinuria can cause diagnostic confusion with pre-eclampsia  but is normally present <20 weeks
• Foetal complications
o Preterm delivery
o Pre-eclampsia
o IUGR
o Polyhydramnios
• Management involves USS for foetal growth, measurement of renal function, screening for urinary infection
and control of hypertension  in severe cases, dialysis is necessary
URINARY INFECTION
• Urine infection is associated with
o Preterm labour
o Anaemia
o Increased perinatal morbidity & mortality
• Asymptomatic bacteriuria affects 5% of women  but in pregnancy it is more likely to leads to pyelonephritis
(20%)
• Urine should be cultured at booking visit (12 weeks) and asymptomatic bacteriuria treated
• Pyelonephritis affects 1-2% of women  causes loin pain, rigors, vomiting and a fever  requires treatment
with IV antibiotics  E.coli accounts for 75% of cases and is often amoxicillin resistant
THROMBOPHILIAS AND THE ANTI-PHOSPHOLIPID SYNDROME

ANTIPHOSPHOLIPID SYNDROME (APS)
• This is when the lupus anticoagulant and/or anticardiolipin antibodies (ACA) occur in association with adverse
pregnancy complications or thrombotic events  foetal loss is high
o Placental thrombosis o IUGR
o Recurrent miscarriage o Early pre-eclampsia
• Low levels of antibodies ae also present in nearly 2% of all pregnant women  but treatment should be
restricted to those with the syndrome
• The pregnancy is managed as ‘high risk’  with serial USS and elective induction of labour at least by term 
treatment with aspirin & LMWH  postnatal anti-coagulation is recommended to prevent venous
thromboembolism
480
OTHER PROTHOMBOTIC DISORDERS
• Other prothrombotic conditions also cause increased risk of pregnancy complications, as well as venous
• thromboembolism o Prothrombin gene mutation
o Antithrombin deficiency o Factor V Leiden heterozygosity
o Protein S or C deficiency
• Risk is greater where these conditions co-exist or if there have been previous complications
• Hyperhomocysteinaemia  also associated with increased pregnancy loss and pre-eclampsia  treatment is
usually high-dose folic acid  women with prothrombin tendencies and an adverse pregnancy history are
usually treated as for antiphospholipid syndrome  although the effectiveness of this is not proven 
postnatal anticoagulation is advised
SYSTEMIC LUPUS ERYTHEMATOSUS

• SLE affects 0.1-0.2% of pregnant women  in the absence of lupus anticoagulant or anticardiolipin
antibodies, the risks to pregnancy are largely confined to those with active disease or associated
hypertension, renal or cerebral disease
• Maternal symptoms often relapse after delivery
VENOUS THROMBOEMBOLIC DISEASE

• Pregnancy is prothrombotic  incidence of VTE is sixfold  blood clotting factors are increased, fibrinolytic
activity is reduced and blood flow is altered by mechanical obstruction and immobility
• Women with inherited prothrombotic conditions pr those with a family/personal history are particularly
prone to thromboses
• Pulmonary embolus  leading ‘direct’ cause of maternal death in the UK  embolism occurs in <0.3% with a
mortality of 3.5%  chest pain and dyspnoea are common, along with tachycardia, raised RR & JVP and chest
abnormalities  diagnosis using CXR, ABG and CT or with VQ scan  ECG changes of normal pregnancy can
mimic a PE
• Deep vein thrombosis  occurs in 0.1% of pregnant women  thromboses are more often iliofemoral and on
the left  doppler examination and venogram or pelvic MRI are used
• Cerebral venous thrombosis  occurs in 1 in 10,000 pregnancies  particularly during the puerperium 
presents as headache and or stroke  imaging with MRI is best
• A thrombophilia screen is performed before treatment with subcutaneous LMWH  dosing is weight based
and adjusted according to the anti-Factor Xa level  more is needed than in a non-pregnant women as
clearance is rapid  if possible treatment is stopped shortly before labour, but restarted and continued into
the puerperium
• Warfarin is teratogenic and may cause foetal bleeding, so seldom used antenatally  both LMWH and
warfarin can be used in breastfeeding women
• Every women requires an early antenatal risk assessment reviewed according to subsequent events
• General measures are required for all  eg. mobilisation and maintenance of hydration  compression
stockings are useful for those where LMWH is contraindicated
• Antenatal prophylaxis  restricted to women at very high risk, such a previous VTE
• Postpartum prophylaxis  more frequently used  if it has been used antenatally it is continued, or is there
is a major or intermediate risk factor, or two or more minor risk factors  then LMWH is prescribed for at
least 10 days and can usually be given 12hrs after delivery
481
OBESITY
• Up to 20% of pregnant women now have a BMI >30  most risks are linearly related to the BMI
• Obese women have a higher risk of
o Thromboembolism
o Pre-eclampsia
o Diabetes
o C-section
o Wound infection
o Difficult surgery
o Postpartum haemorrhage
o Maternal death
• There is a higher rate of congenital abnormalities (eg. NTDs)  diabetes and pre-eclampsia contributes to a 2-
3 fold increase in perinatal mortality  USS is less accurate
• High dose folic acid (5mg) is recommended, as is vitamin D  the pregnancy should be considered high risk,
particularly if the BMI is ≥35  screening for diabetes and closer BP surveillance are required
• A formal anaesthetic risk assessment and antenatal thromboprophylaxis are recommended if BMI ≥40
• There is an increasing trend towards elective C-section in very obese women
MENTAL ILLNESS
• Early postnatal period represents the highest risk period for women developing new-onset mental illness
• Mental illness and postnatal depression are major risk factors for maternal suicide  23% of women died
between 6 weeks and 1 yr from psychiatric causes
• Red flag signs that need referral for senior psychiatric assessment are
o Recent significant change in mental state
o Emergence of new symptoms
o New thought
o Acts of violent self-harm
o New & persistent expressions of incompetency as a mother
o Estrangement from the infant
482
BIPOLAR AFFECTVE DISORDER
• Lifetime risk is up 1 %  onset most commonly during child-bearing age  characterised by episodes of
depression or mania which persist for several weeks at a time  sometimes with psychotic symptoms
• Delivery can precipitate relapse in women with bipolar  and conidition is a major risk factor for postpartum
psychosis
• Treatment includes mood stabiliser, anti-pyschotics, anti-convulsants (teratogenic) and lithium (cardiac
defects)  treatment decisions must weight the risks to foetus against increased risk of relapse or
postpartum psychosis
POSTPARTUM PYSCHOSIS
• Severe mental illnesss that can affect 1-2 in 1000 women  psychiatric emergency  presents suddenly in
the early postnatal period with psychotic and severe mood symptoms
• There may be an acute risk of suicide, self-harm or neglect, neglect of the baby  intentional self-harm to the
baby is rare
DEPRESSION
• Depression affects 10-15% of pregnant and postnatal women  incidence of severe depression in women is
highest in the postnatal period affecting 3% of mothers  symptoms are similar to those in non-pregnant
women
• Treatment in pregnant and postnatal women generally follows guidelines of depression in non-pregnant
women
o CBT should be sought as first line in mild to moderate depression
o Anti-depressants are effective in severe depression  SSRIs & TCAs
• NB  withdrawal and short-term side effects of anti-depressants have been seen in the neonate
ANXIETY DISORDERS
• These include
o Generalised anxiety disorder
o Panic disorder
o Phobias
o Obsessive compulsive disorder
o Post-traumatic stress disorder
• Anxiety disorders are common in perinatal period  may also be prominent symptoms in depression 
prevalent rates are similar to general population
• Incidence of OCD may increase in the perinatal period  the content of obsessive thoughts may involve the
baby, but not usually associated with risk of intentional harm
• PTSD may be triggered by traumatic experience during delivery  particularly instrumental delivery
• Tokophobia  fear of childbirth  can cause great distress to pregnant women  in severe cases may
constitute an indication for elective C-section
• Treatment guidelines broadly follow general population  psychological therapies as first line  medications
should be reserved for severe cases (anti-depressants)  benzodiazepines are not recommended in
pregnancy dur to risk of dependency, neonatal withdrawal and oversedation
SCHIZOPHRENIA
• Affects up to 1% of women over the course of a lifetime  most common during child-bearing age
• Majority of people with schizophrenia require long-term treatment with anti-psychotics  these have not
been shown to be teratogenic  however, olanzapine & quetiapine are associated with weight gain and
therefore gestational diabetes
483
• Treatment is usually continued due to high risks of relapse if medication is stopped permanently  relapse of
schizophrenia in the perinatal period is associated with poor outcomes for the mother and child
‘RECREATIONAL’ DRUG USE

ILLEGAL DRUGS
• Women abusing drugs in pregnancy are often vulnerable personally and socially  at an increased risk of
other illnesses  eg. STI, HIV and Hep C
• Pregnancy care should be MDT  newborn may be subject to care order  the foetus may also be as risk of
congenital abnormalities  so the pregnancy should be considered high risk, particularly for IUGR and
preterm delivery
• Opiates  not teratogenic, but use is associated with preterm delivery, IUGR, stillbirth, developmental delay
and sudden infant death syndrome (SIDS)  methadone maintenance is advised  some neonates
experience severe withdrawal symptoms and convulsions
• Cocaine  probably teratogenic  can cause childhood intellectual impairment, but is particularly associated
with IUGR, placental abruption, preterm delivery, stillbirth and SIDS  pregnancy monitoring is required
• Ecstasy  teratogenic with an increased risk of cardiac defects and probably gastroschisis  pregnancy
complications are similar to cocaine
• Benzodiazepines  associated with foetal clefts  can cause neonatal hypotonia as well as withdrawal
symptoms
• Cannabis  abuse of other drugs makes attribution of risk difficult  but may cause IUGR and affect later
childhood development
LEGAL DRUGS
Alcohol
• 50% of women drink no alcohol at all in pregnancy  10% admit to drinking more than 3 units a week 
below this level there is no consistent evidence of harm  may cause miscarriage in the first 12 weeks  at
higher levels, the incidence of IUGR and birth defects increases
• Alcohol abuse in pregnancy greatly increases risks  associated with foetal alcohol syndrome  incidence is
0.6 per 1000  affected individuals have facial abnormalities, growth restriction, a small/abnormal brain and
developmental delay (>18 units per day)
• Alcohol spectrum disorder (9 in 1000) encompasses lesser variants of the syndrome  USS may not detect
the syndrome, but is used to monitor foetal growth
Tobacco
• Smoking in pregnancy is related to social class  approx. 1 in 3 women smoke during pregnancy  1 in 10 of
pregnancies are exposed to environmental smoke
• Smoking is probably not teratogenic  associated in a dose-response manner with an increased risk of
o Miscarriage o Stillbirth
o IUGR o SIDS
o Preterm birth o Associated with a variety of childhood
o Placental abruption illnesses
• Pre-eclampsia is less common, but more severe if it does occur
• Women should be encouraged to stop or least cut down smoking  nicotine replacement is effective and
preferable to smoking  pregnancy should be considered high risk
484
ANAEMIAS
• There is a 40% increase in blood volume in pregnancy  relatively greater than the increase in red cell mass
 so the result in a net fall in Hb concentration, such that the lower limit of normal is 11.0g/dL
• Iron and folic acid requirements increase  iron absorption increased threefold
• A high Hb level is associated with an increased risk of pregnancy complications (preterm and IUGR)  possibly
because it reflects low blood volume, as found in pre-eclampsia and because of its associated with smoking
IRON DEFICIENCY ANAEMIA

• Affects >10% of pregnant women  although 80% of women not receiving iron have depleted stores by term
 may coexist with folic acid deficiency
• Symptoms are usually absent unless the Hb is <9g/dL  the MCV reduces, but is often initially normal 
ferratin levels are reduced
• Treatment with oral iron, achieving an increase of up to 0.8g/dL/week, but can cause GI upset  in severe
cases, IV iron is quicker and may prevent the need for blood transfusion
FOLIC ACID AND VITAMIN B12 DEFICIENCY ANAEMIA

• Folic acid deficiency is more common than that of vitamin B12  the MCV is usually increased  red cell folic
acid and vitamin B12 levels are low
• Folic acid deficiency should always be considered if anaemia is present without mark microcytosis
• Treatment is with oral folic acid and vitamin B12
PROPHYLAXIS AGAINST ANAEMIA

• Routine iron supplements reduce the incidence of anaemia without affecting perinatal outcome  postnatal
blood transfusion is required less frequently
• Further foetal and neonatal anaemia have adverse outcomes although their relationship to maternal iron
stores is unknown
• Iron is often poorly tolerated and routine supplementation is not universal  all women are given dietary
advice and the Hb is checked at booking, 28 & 34 weeks
• Iron ± folic acid are given if the Hb is <11g/dL in the 1st and 3rd trimester and if <10.5g/dL in 2nd trimester
• In those with epilepsy, diabetes, obesity or previous history of NTD a higher dose of folic acid is given (5mg) 
normal dose in 0.4mg
INFLUENZA
• Influenza accounted for 10% of all maternal deaths in the UK and US during 2009-10 swine flu  in 2011-13
in UK it accounted for 4%
• Pregnancy, particularly with co-morbidity, increases susceptibility to severe disease  presentation is typical
and early use of Relenza (zanamivir) is recommended  with more severe or pre-existing chest disease, then
Tamiflu (oseltamivir) is recommended
• ICU and extracorporeal membrane oxygenation (ECMO) may be required in severe cases
• The best management is prevention  vaccination of pregnant women at any stage of pregnancy is strongly
advised during winter months  vaccine has not known adverse foetal effects and will reduce both maternal
and foetal mortality
HAEMOGLOBINOPATHIES
• The adult Hb molecule (HbA) is made of two alpha chains and two beta chains bound together to form a
tetramer  foetal Hb molecule (HbF) is normally replaced with HbA after birth and is made of two alpha
chains and two gamma chains
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SICKLE CELL DISEASE
• Recessive disorder due to abnormal beta-chain formation (S chain)  results in an abnormal Hb molecule
made of two alpha chains bound to two S chains  found in people with Afro-Caribbean ancestry
• In the UK, there are 100-200 pregnancies in homozygotic individuals every year, but 300,000 affected
individuals born worldwide every year
• Heterozygous have 35% HbS and usually have no problems  homozygous have only HbS (or HbSC)  Hb
electrophoresis now performed in the UK on all pregnant women
• Homozygous individuals are often affected with ‘crises’ of bone pain and pulmonary symptoms  pulmonary
hypertension and proliferative retinopathy may occur  will have chronic haemolytic anaemia for life
• Maternal complications in pregnancy include
o Acute painful crises (35%)
o Pre-eclampsia
o Thrombosis
• Foetal complications in pregnancy include
o Miscarriage o Preterm labour
o IUGR o Death
• Management should be in conjunction with a haemoglobinopathy specialist  advice on avoiding
dehydration and seeking help early is important
o Hydroxycarbamide is probably teratogenic and so stopped
o Penicillin V is continued
o High dose folic acid
o Aspirin & LMWH are often indicated
o Monthly urine culture
o Iron is avoided to prevent overload
• Crises are managed with hydration, analgesia and often antibiotics & anti-coagulation  USS every 4 weeks
and delivery normally indicated by 38 weeks
THALASSAEMIAS
• Alpha thalassaemia  results from impaired synthesis of the alpha chain in the Hb molecule  occurs in
largely South-East Asian origin  4 genes are responsible for a chain synthesis – individuals with all 4 gene
deletions die in utero, those with 3 gene deletions have lifelong requirement for transfusions and those with 1
or 2 deletions are carriers and usually will with mild anaemia
• Beta thalassaemia  results from impaired synthesis of the beta chain in the Hb molecule  occurs in largely
South-East Asian origin and Mediterranean ancestry  recessive disorder and the heterozygous state of on
defective chain causes little illness, although a chronic anaemia which can worsen during pregnancy 
homozygous beta thalassaemia in pregnancy is rare in the UK, but 70,000 individuals affected worldwide
every year
• A chronic haemolytic anaemia is present and multiple transfusions cause iron overload  therefore hepatic &
cardiac dysfunction, endocrine disease (thyroid & parathyroid) and diabetes  monitoring for effects of iron
overload and use of chelation therapy have been key to reducing mortality
• Maternal complications  fertility is reduced, liver disease, cardiac failure and diabetes are common
• Foetal complications  growth restriction and foetal demise are more common  prenatal diagnosis is
offered if the partner is heterozygous for either the beta or alpha form
• Preconceptual planning is crucial  primarily because chelation therapy is probably teratogenic and avoided
in 1st trimester  Desferrioxamine can be used after this time  USS is used 4 weekly
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FEMALE GENITAL MUTILATION (FGM)

• This practice involves partial or total removal of the external female genitalia or injury to the female genital
organs for non-medical reasons
• It is classified into four types
o Type 1  clitoridectomy – partial or total removal of the clitoris or of the prepuce
o Type 2  excision – parital or total removal of the clitoris and labia minora ± labia majora
o Type 3  infibulation – narrowing of the vaginal opening by cutting and repositioning the labia, with
out without removal of the clitoris
o Type 4  other – all other non-medical procedures to the female genitalia for non-medical purposes
• FGM is practiced in many countries in Africa, the Middle East, Malaysia and Indonesia  communities
practice it for different reasons
o Ideas of preservation of virginity
o Promoting hygiene
o Adherence to cultural norms
o Religion  not condoned in Bible or Koran
• FGM is performed from infancy to 15yrs depending on the country and culture  it is a violation of human
rights, child abuse and has no health benefits
o Pain o Urinary retention
o Bleeding o Damage to pelvic organs
o Infection o Death
• Longer term complications include
o Failure to heal o Pain during sex
o Urinary tract infections o Infertility
o Difficulty urinating or menstruating o Fistula
o Chronic pelvic infection o Severe perineal trauma during
o Vulval pain due to cysts or neuromas childbirth
• FGM is illegal to perform in the UK and reinstatement after vaginal birth or arrange to happen
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RED BLOOD CELL ISOIMMUNISATION

• Red cell isoimmunisation occurs when the mother mounts an immune response against antigens on foetal red
cells in her circulation  the resulting antibodies then cross the placenta and cause foetal red cell destruction
PATHOPHYSIOLOGY
BLOOD GROUPS
• Blood is classified according to its ABO and Rhesus genotype  Rhesus consists of three linked gene pairs –
one allele of each pair is dominant to the other
o C/c
o D/d
o E/e
• An individual inherits one allele of each pair from each parent in a Mendelian fashion  the most significant
in isoimmunisation is the D gene
• Only individuals who are DD or Dd express the D antigen and are ‘D Rhesus +ve’  people who have dd are ‘D
Rhesus –ve’ and their immune systems will recognise the D antigen as foreign if they are exposed to it
SENSITISATION
• Small amounts of foetal blood cross the placenta and enter the maternal circulation during uncomplicated
pregnancies and particularly at sensitising events, such as delivery
• If the foetus is D Rhesus +ve and the mother is D Rhesus –ve  the mother will mount an immune response
and therefore create anti-D antibodies
HAEMOLYSIS
• Immunity is permanent  if the mother’s immune system is again exposed to the antigen – eg. subsequent
pregnancy  large numbers of antibodies are created
• These antibodies can cross the placenta and bind to foetal RBCs  which are then destroyed in the foetal
reticuloendothelial system  this can cause haemolytic anaemia and ultimately death  called Rhesus
haemolytic disease
• A similar immune response can be mounted against other RBC antigens  the principal antibodies affecting
the foetus are anti-c, anti-E and anti-Kell (a non-Rhesus antibody)
PREVENTION
• Production of maternal anti-D can be prevented by the administration of exogenous anti-D to the mother 
this mops up the foetal RBCs that have crossed the placenta by binding to their antigens, thereby preventing
recognition by the mother’s immune system
• If both parents are known to be D Rhesus –ve  the foetus must also be Rhesus –ve and therefore will be
unaffected
• Routine NIPT for foetal Rhesus type, using maternal blood, is now recommended in the UK  anti-D is
pointless if maternal anti-D is already present, as sensitisation has already occurred
• Anti-D should be given to all women who are Rhesus –ve if foetal status is unknown or the baby is Rhesus +ve
at 28 weeks  this alone will reduce the rate of isoimmunisation in a first pregnancy by 1.5% to 0.2%
• Anti-D is also given to such women within 72hrs of a sensitising event including miscarriage or threatened
miscarriage after 12 weeks, if the uterus is instrumented (ERPC), termination of pregnancy or ectopic
pregnancy  it is also given after in utero procedure, such as amniocentesis and ECV, foetal death or
antepartum haemorrhage
• Postnatallay, the neonate’s blood group is checked  if Rhesus D +ve then anti-D is given to the mother
within 72hrs  a Kleihauer test to assess the number of foetal cells in the maternal circulation is also
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performed within 2hrs of birth to detect occasional larger fetomaternal haemorrhages that require larger
doses of anti-D to ‘mop up’
EPIDEMIOLOGY
• 15% of Caucasian women, but fewer African or Asian women are D Rhesus –ve
• The use of anti-D, smaller family size and good management of isoimmunisation has resulted in perinatal
death attributed to Rhesus disease becoming extremely rare
• About 1% of D Rhesus –ve women have been sensitised in the UK  mostly as a result of omitted or
inadequate anti-D
MANIFESTATIONS OF RHESUS DISEASE

• As antibody levels risk and cross the placenta  they cause haemolysis in the foetus
• In mild disease  may lead to neonatal jaundice only  or there may be sufficient haemolysis to cause
neonatal anaemia (haemolytic disease of the newborn)
• More severe disease causes in utero anaemia  as this worsen it causes cardiac failure, ascites and oedema
(hydrops)  foetal death follows
• Rhesus disease usually worsens with successive pregnancies as maternal antibody production increases
MANAGEMENT OF ISOIMMUNISATION
• The management of rhesus isoimmunisation varies widely but compromises
o Identification of women at risk of foetal haemolysis and anaemia
o Assessing if/how severely the foetus is anaemic
o Blood transfusion in utero or delivery for affected foetus
IDENTIFICATION
• Foetal rhesus status  unsensitised women are screened for antibodies at booking and at 28 weeks gestation
 if antibodies are found, the foetal genotype needs to be determined
• Maternal antibody level  if anti-D levels are <10IU/ml and there is no previous history of an affected baby, a
significant foetal problem is very unlikely and levels are subsequently checked every 2-4 weeks  when anti-
D levels are >4IU/ml the foetus is investigated for anaemia using USS  if there is previous history of foetal
effects, antibody levels are less predictive
ASSESSING SEVERITY OF FOETAL ANAEMIA

• Pregnancies at risk of foetal anaemia are assessed using USS  Doppler USS of the peak velocity in systole of
the foetal MCA has a high sensitivity for significant anaemia before 36 weeks  it is used at least fortnightly
in at-risk pregnancies
• Very severe anaemia (<5g/dL) is detectable as foetal hydrops or excessive foetal fluid  if anaemia is
suspected, foetal blood sampling is performed under USS using a needle in the umbilical vein at the cord
insertion in the placenta or in the intrahepatic vein
• The risk of foetal loss is 1% and after 28 weeks it should be performed with facilities for immediate delivery if
complications arise
TREATMENT OF FOETAL ANAEMIA

• Foetal blood sampling is performed with Rh –ve, high haematocrit, CMV –ve blood  which can be injected
into the umbilical vein if anaemia is confirmed
• The process of quantification of anaemia and transfusion will need to be repeated at longer intervals until
about 36 weeks  after which time delivery is undertaken
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• Blood can be administered to the neonate  both top-up (anaemia) or exchange (hyperbilirubinaemia)
transfusions may be required
• All neonates born to Rh -ve mothers should have the blood group checked  an FBC, blood film and bilirubin
may detect mild degrees of isoimmunisation
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PRETERM DELIVERY
• Preterm delivery  occurs between 24-37 weeks gestation  most important before 34 weeks as neonatal
risk is highest  <24 weeks is thought of as a miscarriage, although some babies have survived
• 5-8% of deliveries are preterm  6% present with contractions preterm, but deliver at term
• Preterm delivery can be spontaneous  but at later gestations is more likely to be iatrogenic – eg. when
delivery is expedited by doctors due to foetal or maternal risk  most common example is pre-eclampsia as
delivery is the only cure
• Late miscarriage  between 16-23+6 weeks  overlaps with preterm if the foetus is born alive
COMPLICATIONS
NEONATAL
• Prematurity accounts for 80% of neonatal ICU  20% of perinatal mortality  up to 50% of cerebral palsy
• Other long term morbidity is common
o Chronic lung disease
o Blindness
o Minor disability
• At 24 weeks, approx. ⅓ of babies will be handicapped and ⅓ will die  by 32 weeks these risks are <5%
• Even between 34-37 weeks there is increased respiratory distress, infant mortality and an increased risk of
subtle cognitive & behavioural problems
MATERNAL
• Infection is frequently associated with preterm labour  can occasionally cause severe maternal illness nad
death  C-section is more commonly used
SPONTANEOUS PRETERM LABOUR

RISK FACTORS
• Previous history • Sexually transmitted & vaginal infections 
• Lower socioeconomic class eg. BV
• Extremes of maternal age • Previous cervical surgery
• A short interpregnancy interval • Multiple pregnancy
• Maternal medical disease  eg. renal failure, • Uterine abnormalities
DM or thyroid • Fibroids
• Pregnancy complications  eg. pre-eclampsia, • Urinary infection
IUGR • Polyhydramnios
• Male foetal gender • Congenital foetal abnormalities
• High haemoglobin • Antepartum haemorrhage
MECHANISMS
• Explanation  the uterus is a castle, the cervix is the castle wall holding the ‘defenders in  three groups of
mechanisms affect the defenders, the castle wall or the enemy  leads to the wall being breached
• Too many defenders  multiple pregnancy is an increasing contributor due to assisted conception  delivery
before 34 weeks occurs in 20% of twins and is the mean time for twins  excess liquor (polyhydramnios) has
the same effect, probably largely mediated by increased stretch
• The defenders ‘give up’  the foetal survival response  more common where the foetus is at risk – eg. pre-
eclampsia, IUGR or infection  likewise placental abruption will often be followed by labour  iatrogenic
preterm delivery attempts to improve upon this mechanism
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• The castle design is poor  uterine abnormalities, such as fibroids or congenital (Mullerian duct)
abnormalities
• The wall is weak  cervical incompetence, when the cervix painlessly dilates and precedes some preterm
deliveries  some cervical surgery (for CIN or CA) or multiple dilations of the cervix may be a cause
• The enemy knock down the walls  infection is implicated in 60% of preterm deliveries and is often subclinical
 BV is a known risk factor, but GBC, Trichomonas, Chlamydia and commensals have also been implicated 
manifestations include
o Chorioamnionitis
o Offensive liquor
o Neonatal sepsis
o Endometritis
• The enemy get around the walls  urinary tract infection and poor dental hygiene are risk factors
PREDICTION AND PREVENTION OF PRETERM LABOUR

• Cervical length on transvaginal sonographgy is both a sensitive and specific indication of preterm labour risk
• Prevention strategies are limited to women at high risk  most frequently women who have previously
delivery between 16-34 weeks  strategies should begin at 12 weeks
The Cervix
• Cervical cerclage  insertion of one or more sutures in the cervix to strengthen it and keep it closed 
commonly used  vaginal route is usual, but can be placed abdominally if the cervix is very short or scarred
or if previous vaginal cerclage has failed  usually pre-pregnancy and can be laparoscopic
• Cerclage is used in 3 situations
o Elective at 12-14 weeks
o Cervix can be scanned and only sutured if significant shortening  usual policy
o Rescue suture  prevent delivery even when the cervix is widely dilated in up to 50% of suitable
women
Progesterone Supplementation
• Suppositories in early pregnancy reduce the risk of preterm labour in women at high risk
Infection
• Screening and treatment of STIs, UTIs and BV (before 16 weeks) is beneficially  although the role of
antibiotics for other bacteria is disputed
Foetal Reduction
• Reduction of higher order multiples is offered at 10-14 weeks
Treatment of Polyhydramnios
• Polyhydramnios can be treated by needle aspiration (amnioreduction) or NSAIDs (foetal surveillance)  these
reduce foetal urine output, but can occasionally cause (reversible) premature closure of the foetal ductus
arteriosus
Treatment of Medical Disease

• The prevention of placental disease associated with autoimmune disease reduces the risk of preterm delivery
• Women with thyroid antibodies may also benefit from thyroxine
CLINICAL FEATURES AND INVESTIGATIONS

• Women present with painful contractions  but >50% will spontaneously resolve and not result in delivery
until term
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• Cervical incompetence is painless cervical dilation  women may experience a dull suprapubic ache or
increased discharge
• Antepartum haemorrhage and fluid loss are common  latter suggest ruptured membranes
• Fever and severe sepsis may occur  vaginal exam is performed unless the membranes have ruptured 
dilated cervix confirms diagnosis
• A negative ‘point of care’ testing (foetal fibronectin assay) means preterm delivery within the next week is
unlikely  TVS of cervical length is also predictive with delivery unlikely is >15mm
• CTG and USS are used to assess the foetal state
• Vaginal swabs should be taken  maternal CRP usually rises with chorioamniotitis  WCC is useful, but
steroids also cause it to rise
MANAGEMENT
Steroids and Tocolysis
• Steroids are given between 23-34 weeks in women who are presenting with contractions  can be restricted
to those who are fibronectin +ve or have a short cervix
• Steroids reduce perinatal morbidity and mortality by promoting pulmonary maturity  do not increase risk of
infection, but additional insulin will need to be given to diabetic patients
• Take 24hrs to work, so delivery is artificially delayed using tocolysis  only 1 course is advised
• Tocolysis  nifedipine or oxytocin receptor antagonists (eg. atosiban) can be given to allow steroids time to
act or allow in utero transfer to a unit with NICU  it delays rather than stops preterm labour and should not
be used for more than 24hrs or in the presence of an infection
Detection and Prevention of Infection

• Sepsis requires full rapid evaluation and treatment  may occur even when the membranes have not
ruptures
• Chorioamniotitis warrants IV antibiotics and immediate delivery  antibiotics should not be administered to
non-infected women simply in threatened preterm labour as long-term cognitive impairment is increased
Magnesium Sulphate
• Magnesium sulphate is neuroprotective for the neonate if given <12hrs prior to anticipated or planned
preterm labour
• Single dose of 4g by slow IV infection is used prior to delivery between 23-34 weeks  care is required as it is
toxic in overdose
Transfer
• Extremely premature (<27 weeks) or small (<800g) neonates have a better survival rate if born in unit with
NICU  the effect is probably a result of both improved antenatal and postnatal care
• If delivery is not imminent or the mother unstable  urgent in utero transfer should be arranged
Delivery
• Vaginal delivery reduces incidence of neonatal respiratory distress syndrome  C-section is only undertaken
for the usual obstetric indications  but most preterm are in breech position, so C-section is common
• Paediatric facilities are mobilised  membranes may not rupture in labour, at least up to 32 weeks, so labour
may be slow allowing steroids to act
• Forceps rather than Ventouse are used only for the usual obstetric indications
• Unless immediate neonatal resuscitation is required  the cord should not be clamped for 45 seconds to
reduce neonatal morbidity
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• Antibiotics for delivery are recommended for women in actual preterm labour because of the increased risk
and morbidity of GBS
PRETERM PRELABOUR RUPTURE OF THE MEMBRANES

• This is when membranes rupture before labour at <37 weeks  often the cause is unknwwn, but all the
causes of preterm labour may be indicated  it occurs before ⅓ of preterm deliveries
COMPLICATIONS
• Preterm delivery is the principal complication  follow with 48hrs in >50% of cases
• Infection of foetus, placenta (chorioamnionitis) or cord (funisitis) is common  may occur before and be the
cause or after membrane rupture  the earlier the gestation at membrane rupture, the higher the risk of
pre-existing infection
• Prolapse of the umbilical cord may occur rarely  absence of liquor can result in pulmonary hypoplasia and
postural deformities
CLINICAL FEATURES
• Presents with a gush of clear fluid  followed by further leaking
• A pool of fluid in posterior fornix on examination is diagnostic  digital examination is avoided for fear of
infection
• Chorioamniotitis is characterised by contractions or abdominal pain, fever or hypothermia, tachycardia,
uterine tenderness and coloured or offensive liquor  although clinical signs often appear late
INVESTIGATIONS
• ‘Point of care’ tests are available in doubtful cases  but not entirely reliable
• USS may reveal reduced liquor, but the volume can also be normal as foetal urine production continues
• High vaginal swab, FBC and CRP are taken to look for infection  lactate assesses severity of sepsis
• Foetal well-being is assessed by CTG  a persistent foetal tachycardia is suggestive of infection
MANAGEMENT
• Risk of preterm delivery is balanced against risk of infection  the woman is admitted for at least 48hrs and
given steroids
• Close maternal and foetal surveillance is performed  if the gestation reaches 34-36 weeks, then normally
delivery is undertaken
Identification and Management of Infection

• If there is evidence of uterine infection  IV antibiotics are given immediately and the foetus is delivery 
chorioamniotitis will not be eliminated by antibiotics alone
Prevention of Infection
• Prophylactic use of erythromycin in women even without clinical evidence of infection is usual
• Co-amoxiclav is contraindicated  as the neonate is more prone to necrotising enterocolitis
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ANTEPARTUM HAEMORRHAGE
• Antepartum haemorrhage (APH) is bleeding from the genital tract after 24 weeks’ gestation
PLACENTA PRAEVIA
• Placenta praevia occurs when the placenta is implanted in the lower segment of the uterus  complicated
0.4% of pregnancies at term
• At 20 weeks the placenta is ‘low-lying’ in many pregnancies  but appears to move upwards as the
pregnancy continues  this is due to the formation of the lower segment of the uterus in the 3rd trimester 
the myometrium where the placenta is implanted moves away from the internal cervical os
• Placenta praevia is classified according to the promixity of the placenta to the internal os  it may be
predominantly on the anterior or posterior uterine wall
• Aetiology is unknown  but is slightly more common in

o Twins
o High parity
o Increased maternal age
o Scarred uterus
• The placenta in the lower segment obstructs the engagement of the head  this necessitates C-section and
may also cause transverse lie
• Haemorrhage can be severe  may continue during and after delivery as the lower segment is less able to
contract and constrict the maternal blood supply
• If a placenta implants in a previous C-section scar  it may be so deep as to prevent placental separation
(placenta accreta) or penetratre through the uterine wall into surrounding structures, such as the bladder
(placenta percreta)  placenta accreta occurs in 10% of women who have both a placenta praevia and a
single previous C-section  this may provoke massive haemorrhage at delivery and often requires a
hysterectomy
• Presents with intermittent painless bleeds, which increase in frequency and intensity over several weeks 
however, ⅓ of women have not experienced bleeding before delivery
• Breech position and transverse lie are common  the foetal head is not engaged and high  vaginal exam is
never performed unless placenta praevia has been excluded
• USS is used to make the diagnosis  if a low-lying placenta is detected at 2nd trimester scan, then it is
repeated at 32 weeks to exlude placenta praevia (vaginally if placenta posterior)
• Placenta <2cm from internal os is likely to be praevia at term  if it is anterior and under C-section scar the
3D power USS used to exclude placenta accreta
• Where presentation is with bleeding  CTG, FBC, clotting and cross-match are completed  foetal distress is
uncommon
• Women is admitted if bleeding from a placenta praevia  steroids administered in <34 weeks
• Delivery is by elective C-section at 39 weeks  intrapartum and postpartum haemorrhage are common 
emergency C-section is required if severe bleeding before this time
• Placenta accreta or percreta should have been anticipated and a clear plan made for elective delivery with
interventional radiology and expert surgical & anaesthetic support  uterine incision is made away from the
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placenta, which can be left in situ or removed with the entire uterus  partial separation or transection
during uterine incision may lead to massive haemorrhage  treatment involves compression of the inside of
the scar after removal of the placenta with an inflatable balloon, excision of the affected uterine segment or
frequently total hysterectomy
PLACENTA ABRUPTION
• Placenta abruption is when part (or all) of the placenta separates before delivery of the foetus  it occurs in
1% of pregnancies  however, it is likely that many antepartum haemorrhages of ‘undetermined origin’ are
small placenta abruptions
• When the placenta separates, considerable maternal bleeding may occur behind it  this can have several
consequences
o Further placental separation  acute foetal distress
o Antepartum haemorrhage  tracks down between membranes and myometrium
o Blood enter the liquor or myometrium
• Foetal death is common  30% of proven abruptions  haemorrhage often necessitates blood transfusion
 this DIC and renal failure may lead to maternal death
• Many affected women have no risk factors  however there are several associated factors
o IUGR o Multiple pregnancy
o Pre-eclampsia o High maternal parity
o Autoimmune disease o Trauma
o Maternal smoking o Sudden reduction in uterine volume
o Cocaine usage (membrane rupture)
o Previous history of placental abruption
 risk 6%
• Presents with painful bleeding  pain due to blood behind the placenta and in myometrium  blood is often
dark  degree of vaginal bleeding does not reflect severity of bleeding
• Tachycardia suggests profound blood loss  hypotension only occurs after massive blood loss  the uterus is
tender and often contracting, so labour ensues foetal tones are often abnormal or even absent
• Diagnosis is made on clinical judgement  foetus monitored using CTG and uterine activity  USS used to
exclude praevia and estimate foetal weight  ICU for mother may be necessary
• Admission is required, as resuscitation may be required  delivery depends of foetal state and gestation – if
foetal distress then emergency C-section, but if not then labour is induced with amniotomy
• If no foetal distress, the pregnancy is preterm and the degree of abruption is minor, then steroids can be
given  patient closely monitored and if all symptoms settle discharged  pregnancy is now ‘high risk’
• Whatever the mode of delivery  postpartum haemorrhage is a major risk
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OTHER CAUSES OF ANTEPARTUM HAEMORRHAGE

BLEEDING OF UNDETERMINED ORIGIN
• When APH is small and painless, but the placenta is not praevia  it may be impossible to find a cause
• Many episodes are likely to be minor degrees of placental abruption
RUPTURED VASA PRAEVIA

• Vasa praevia occurs when a foetal blood vessel runs in the membranes in front of the presenting part  these
vessels usually result from the umbilical cord being attached to the membranes rather than the placenta
(velamentous insertion) or where the placenta is in parts  occurs in 1% of pregnancies
• Rupture is more likely with vessels closer to the cervix  occurs in 1 in 5000 pregnancies  usually when the
membranes rupture  massive foetal bleeding follows
• Typical presentation is painless, moderate vaginal bleeding at rupture of the membranes, which is
accompanied by severe foetal distress  C-section is often not fast enough to save the foetus
UTERINE RUPTURE
• Significant antenatal rupture of a lower segment C-section scar is very rare  very occasionally rupture
occurs before labour in women with other uterine scars or a congenitally abnormal uterus
BLEEDING OF GYNAECOLOGICAL ORIGIN

• Cervical CA can present in pregnancy  if a cervical smear is overdue, the women with small recurrent or
postcoital haemorrhage should undergo speculum examination and colposcopy
• Cervical polyps, ectropions and vaginal lacerations may also be evident, but bleeding should not usually be
attributed to them
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FOETAL GROWTH, COMPROMISE AND SURVEILLANCE

FOETAL HEALTH AND GROWTH
SMALL FOR GESTATIONAL AGE (SGA)
• This means that the weight of the foetus is less than the 10th centile for it gestation  if at term – 2.7kg, but
other cut-off points can be used
• Traditionally, small size was felt to reflect chronic illness due to placental dysfunction  these babies are at
increased risk of complications because they are more likely than normal birthweight babies to be growth
restricted  but many are simply constitutionally small, have grown consistently and are not compromised
• Assessment of foetal weight is better at identifying IUGR if customised according to what would be expected
for the individual rather than the overall population
INTRAUTERINE/FOETAL GROWTH RESTRICTION (IUGR)

• Describes foetuses that have failed to reach their own growth potential  their growth in utero has slowed
and they may end up being SGA  but some do not and many stillbirths of foetuses distressed in labour are
of apparently normal weight
• If a foetus was genetically determined to be a 4kg term and delivers at term weighing 3kg  its growth has
been restricted and it may have placental dysfunction
FOETAL DISTRESS
• This refers to an acute situation that may result in foetal damage or death if it is not revered or if the foetus is
not delivered urgently  eg. hypoxia
• It is usually seen in labour  however, most babies that subsequently develop cerebral palsy were not born
hypoxic
FOETAL COMPROMISE
• Describes a chronic situation and should be defined as when conditions for the normal growth and
neurological development are not optimal
• Most identifiable causes involve poor nutrient transfer through the placenta (placental dysfunction) 
commonly there is IUGR, but this may also be absent  eg. maternal diabetes or prolonged pregnancy
FOETAL SURVEILLANCE
• Aims of foetal surveillance
o Identify the high risk pregnancy using history or events during pregnancy, or using specific
investigations
o Monitor the foetus for growth and well-being  the methods used will vary according to pregnancy
risk and events during the pregnancy
o Intervene (usually expedite delivery) at an appropriate time, balancing the risks of in utero
compromise against those of intervention and prematurity  the latter is itself a major cause of
mortality and morbidity
IDENTIFICATION OF PREGNANCY RISKS

Pre-pregnancy risks
• There are no specific risk factors that can be detected in pre-pregnancy
Early pregnancy risks

• Pregnancy-associated plasma protein A (PAPPA) is a placental hormone  the maternal level is reduced in the
1st trimester with chromosomal abnormalities  it is therefore used in screening for Down’s syndrome  it is
also known that a low level constitutes a high risk for IUGR, placental abruption and consequent stillbirth
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• Maternal uterine artery Doppler  uterine circulation normally develops a very low resistance in normal
pregnancy  abnormal wave forms suggest failure of development of a low resistance circulation identified
75% of pregnancies at risk of adverse neonatal outcomes in the early 3rd trimester  particularly early pre-
eclampsia, IUGR or placental abruption  the test is less predictive of later problems, so is most sensitive at
20-23 weeks, but can be used from 12 weeks to term
Later pregnancy risks

• With the occurrence of pre-elcampsia or vaginal bleeding  or if a routine abdominal palpation suggests a
SFD foetus  more close examination is required and the risk level will change
METHODS OF FOETAL SURVEILLANCE

• The tests outlined below are not routine for low-risk pregnancies  they are centred around identification of
the small or compromised foetus by taking serial measurements of the symphysis fundal height and other
aspects of antenatal visits
Ultrasound Assessment
• USS is used to measure foetal size after the 1st trimester  particularly the abdominal and head
circumference  these changes are recorded on centile charts
• Three factors help to differentiate between the healthly small foetus and the ‘growth restricted’ foetus
o The rate of growth can be determined by previous scansm or a later examination at least 2 weeks
apart
o The pattern of ‘smallness’ may help  the foetal abdomen will often stop enlarging before the head,
which is ‘spared’  this results in a ‘thin foetus’ or ‘asymmetrical’ growth restriction  a reduction in
the rate of growth of the abdominal circumference by >30% is suggestive of IUGR
o Allowance for constitutional non-pathological determinants of foetal growth enables ‘customisation’
of individual foetal growth  assessing actual growth according to expected growth
• Serial USS is safe and useful in confirming consistent growth in high risk and multiple pregnancies  one-off
USS in later pregnancy is of limited benefit in low-risk pregnancies
• Mothers with diabetes often have large babies  particularly with a large abdominal circumference 
although these babies are still more vulnerable
Doppler Waveforms of the Umbilical Artery

• Doppler is used to measure velocity waveforms in the umbilical arteries  evidence of high resistance
circulation suggests placental dysfunction  eg. reduced/absent flow in foetal diastole compared to systole
• Resistance is described according to end-diastolic flow (high or >95th centile), absent (AEDF) or reversed
(REDF)  the latter two findings indicate severe placental dysfunction
• Umbilical artery waveforms help identify which small foetuses are actually growth restricted and therefore
compromised  best performed before 34 weeks as not sensitive alone after, but when used in conjunction
with MCA or cerebroplacental ratio (CPR) it is better
• Its usage improves perinatal outcomes in high-risk pregnancy, whilst reducing intervention in those not
compromised  the absence or reversal of flow in diastole usually predated CTG abnormalities and correlates
well with severe compromise
• It is not a useful tool is low-risk pregnancies  less effective at identifying the normal-weight, but
compromised foetus
Doppler Waveforms of the Foetal Cerebral Circulation

• Doppler is used to assess the resistance or velocity of the MCA  with foetal compromise the MCA often
develops a low resistance pattern in comparison to the thoracic aorta or renal vessels  this reflect a head-
sparing effect  the velocity of MCA flow also increases with foetal anaemia
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• The ratio of the pulsatility index (PI) of this vessel compared to umbilical artery is currently the beth method
of assessing chronic placental dysfunction >34 weeks
Doppler Waveforms of the Foetal Venous Circulation

• All major foetal vessels can be seen, but the most commonly measured is the ductus venosus  this is
measure of cardiac function and used to assess extremely preterm foetuses (<28 weeks) as an alternative to
CTG
• It is useful in assessing disease severity in babies with heart failure and TTTS
Cardiotocography or Non-stress Test

• Foetal heart is recorded electronically for up to 1hr  accelerations and variability >5 beats/minue should be
present, decelerations absent and the rate in the range of 110-160 bpm
• CTG gives immediate information about foetal status at >26 weeks, but are of no use as an antenatal
screening tests
Kick Chart
• The mother records the number of individual movements that she experiences every day  most
compromised foetuses have reduced movements in the hours before demise  however, they only stop
moving shortly before death so should not be used routinely
SMALL FOR GESTATIONAL AGE & IUGR FOETUS

• SGA means small for the gestation (usually <10th centile)  by definition, 10% of babies will be below the 10th
centile
• Foetal size and health are determined by a combination of genetic and acquired factors
• Constitutional determinants  affect growth and birth weight without causing IUGR  factors associated
with small babies
o Low maternal height & weight
o Nulliparity
o Asian ethnic group
o Female foetal gender
• Pathological determinants  include
o Pre-existing maternal disease  eg. renal or autoimmune disease
o Maternal pregnancy complications  eg. pre-eclampsia
o Multiple pregnancy
o Smoking
o Drug usage
o Infections  eg. CMV
o Extreme exercise
o Malnutrition
o Congenital abnormalities
• Complications of SGA include stillbirth, foetal distress in labour, admission to NICU and long-term handicap 
up to 50% of ‘unclassified’ stillbirths are SGA or have IUGR  preterm delivery is more common (inc.
iatrogenic)  maternal risk is also higher as pre-eclampsia may coexist and C-section is often used
DIAGNOSIS
• Reduced foetal movements are not consistent with IUGR as this is a very late stage
• Serial measurements of the symphysis fundal height may be reduced or slow down  the BP and urine must
be checked as pre-eclampsia commonly coexists with IUGR, particularly <34 weeks
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• The diagnosis of SGA is made using USS  investigations are to determine both the cause and the severity of
the compromise  the anomaly scan is repeated to look for malformations, testing for CMV or for
chromosomal abnormalities with NIPT or amniocentesis should be considered
• To tell which SGA foetuses are actually IUGR and how severely  USS and umbilical artery Doppler which >34
weeks are combined with MCA as the CPR are used
• A reduction in growth velocity by >30% of the abdominal circumference also suggests IUGR  the amniotic
fluid volume is often reduced (oligohydramnios)  CTG is also used, but will become abnormal usually only
when severe compromise or ‘foetal distress’ is present
MANAGEMENT
Small for Gestational Age
• Growth is rechecked with USS at 2-3 weekly intervals  at gestation >37 weeks delivery should be arranged
 however, in some foetuses that are not very small (>3rd centile), with normal umbA and CPR Dopplers it
may be more appropriated to wait until 40-41 weeks to allow labour to be spontaneous
Intrauterine Growth Restriction

• Gestation <34 weeks  aim is to prevent in utero demise or neurological damage associated with ongoing
placental dysfunction, whilst maximising the gestation to avoid complications of prematurity  an estimated
foetal weight for intervention need to be >500g and the gestation >25-26 weeks for a foetus to be viable once
delivered
• An IUGR foetus with abnormal umbA Doppler values is review at least twice a week  if AEDF is seen the
mother is admitted and given steroids  if gestation is >32 weeks a C-section is usual, but if <32 weeks a daily
CTG is performed and delivery only arranged if this is abnormal
• The severely IUGR foetus is usually delivered by C-section  delivery <34 weeks should be immediately
preceded by maternal administration of magnesium sulphate
• Gestation 34-37 weeks  at this gestation, delivery can sometimes be deferred in the absence of severely
abnormal Doppler values  delivery can be by induction or C-section if the CTG is abnormal
• Gestation >37 weeks  delivery is indicated by induction or C-section if the CTG is abnormal
STILLBIRTH
• Stillbirth occurs when a foetus is delivered after 24 completed weeks of gestation showing no signs of life  1
in 200 pregnancies are only about 10% occur intrapartum  women who have had one stillbirth are x3-5
more likely to have another
• Possible causes
o IUGR (SGA)  the most common with smoking and multiple pregnancy as important risk factors
o Unexplained cases  often due to the pathology behind IUGR
o Foetal and chromosomal congenital abnormalities  vary in incidence according to the level of
prenatal diagnosis
o Pregnancy-related maternal disease  eg. pre-eclampsia, gestational diabetes  much of the risk is
via placental disease
o Infection  GBS, parovirus or CMV
o Placental abruption
o Intrapartum  usually hypoxia
o Rare  foetal exsanguination, as foeto-maternal haemorrhage or vasa praevia, fatty liver and
cholestasis
• The majority of antepartum stillbirths present as reduced or absent foetal movements  the diagnosis is
made using USS
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THE PROLONGED PREGNANCY

• A pregnancy is prolonged if >42 weeks  the risk of perinatal mortality and morbidity rapidly rise between
41-42 weeks  approx. 6% of pregnancies reach 42 weeks  it is more common if previous pregnancies have
been prolonged and in nulliparous women
• The rate of stillbirth per 1000 continuing pregnancies rises from 0.35 at 37 weeks to 2.12 at 43 weeks 
neonatal illness and encephalopathy, meconium passage and a clinical diagnosis of foetal distress are more
common
• The aim of management is to balance the risks of obstetric intervention against those of prolonged pregnancy
 by 41-42 weeks induction of labour is favoured and prevents 1 foetal death in every 500 women induced
• Sweeping of the cervix usually occurs at 40-41 weeks and helps to spontaneously start labour
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ABNORMAL LIE AND BREECH PRESENTATION

ABNORMAL (TRANSVERSE & OBLIQUE) LIE
• The lie of the foetus describes the relationship of the foetus to the long axis of the uterus  if lying
longitudinally, the lie is longitudinal and presentation is cephalic or breech  if neither is palpable at the
pelvic inlet, then the foetus must be lying across the uterus with the head in one iliac fossa (oblique lie) or in
the flank (transverse lie)
• Abnormal lie occurs at 1 in 200 births  more common earlier in pregnancy and before term it is normal
AETIOLOGY
• Preterm labour is more commonly complicated by an abnormal lie than labour at full term
• Circumstances that allow the foetus to turn are the most common cause, frequently resulting in an ‘unstable’
or continuing changing lie  eg. polyhydramnios or high parity
• Conditions that prevent turning may also cause persistent transverse lie  eg. foetal or uterine abnormalities
and twin pregnancies
• Conditions that prevent engagement  eg. placenta praevia, pelvic tumours and uterine deformities
COMPLICATIONS
• If the head or breech cannot enter the pelvis, the labour cannot deliver the foetus
• An arm or the umbilical cord may prolapse when the membranes rupture  if neglected the obstruction
eventually causes uterine rupture
• Both foetus and mother are at risk
MANAGEMENT
• No action is required for transverse or unstable lie <37 weeks unless the women is in labour
• >37 weeks, the women is often admitted to hospital in case the membranes rupture and USS is preformed to
exclude particular identifiable causes  notably polyhydramnios and placenta praevia
• External cephalic version (ECV) is unjustified because the foetus normally turns back
• If spontaneous version occurs and persists for >48hrs, then the mother is discharged
• In the absence of pelvic obstruction  an abnormal lie will usually stabilise before 41 weeks
• At 41 weeks or if the women is in labour  the persistently abnormal lie is delivered by C-section
BREECH PRESENTATION
• Presentation refers to the part of the foetus that occupies the lower segment of the uterus or the pelvis
• Breech presentation occurs in 3-4% of term pregnancies  but more common if the labour is preterm (25%)
• Types of breech
o Extended breech (70%) has both legs extended at the knee
o Flexed breech (15%) has both legs flexed at the knee
o Footling breech (15%) has one or both feet present below the buttocks
• Prematurity is commonly associated with breech presentation  conditions that prevent movement or that
prevent engagement of the head are more common
• Breech presentation is commonly missed (30%)  but diagnosis is only important from 37 weeks or if the
women is in labour  upper abdominal discomfort is common and USS confirms diagnosis  ensures the
prerequisites for ECV are met
• Perinatal and long-term morbidity and mortality are increased  foetal abnormalities are more common 
labour also has additional hazards of hypoxia and birth trauma
EXTERNAL CEPHALIC VERSION
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• From 37 weeks an attempt is made to turn the baby to a cephalic presentation  this reduces breech
presentation at term and therefore C-sections  success rate is 50%, but approximately 3% of those will turn
back  where ECV fails, only 3% will turn spontaneously before delivery
• ECV is done by administering a tocolytic (uterine relaxant) to the mother  performed under USS guidance
and in hospital to allow immediate delivery if complications occur  CTG is performed straight after and anti-
D given if required
• Lower success rates are seen in
o Nulliparous women
o Caucasians
o Engaged breech
o Head is not easily palpable
o High uterine tone
o Obese women
o Reduced liquor volume
• ECV is not performed if
o The foetus is compromised
o Vaginal delivery is contraindicated (praevia),
o There are twins
o The membrane has ruptured
o There has been a recent antepartum haemorrhage
MODE OF DELIVERY
• In the West most breech presentations will undergo elective C-section  however women can delivery
vaginally if they wish  this is particularly common if it is a late presentation or a 2nd twin
• Vaginal birth is probably more risky with a foetus >3.8kg  with evidence of foetal compromise, an extended
head or footling legs
• Pushing is discouraged until the buttocks are visible and CTG is advised  in 30% of cases there is a slow 1st
stage or 2nd stage, so C-section is advised
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MULTIPLE PREGNANCY
TYPES OF MULTIPLE PREGNANCY
• Twins occur in 1 in 80 pregnancies and triplets in 1 in 1000  there is considerable georgraphic variation
• The incidence of twins is increasing because of subfertility treatment and the increasing number of older
mothers  although in the UK, triplets and higher order pregnancies have become fewer again with better
fertility treatment regulation
• Dizygotic twins  ⅔ of all multiple pregnancies  result from fertilisation of different oocytes by different
sperm  such foetuses may be of different sex and are no more genetically similar than siblings from
different pregnancies
• Monozygotic twins  result from mitotic division of a single zygote into ‘identical twins’  whether they
share the same amnion or placenta depends on the time at which division into separate zygotes occurred
o Division before day 3  twins with separate placenta and amnions  dichorionic diamniotic
o Division between day 4-8  twins with a shared placenta, but different amnions  monochorionic
diamniotic
o Division between day 9-13  very rare and causes twins with shared placenta and amnion 
monochroionic monoamniotic
o Incomplete division  conjoined twins
AETIOLOGY AND DIAGNOSIS

• Most important factors  largely affecting DZ twins
o Assisted conception
o Genetic factors
o Increasing maternal age
o Parity
• About 20% of all IVF conceptions and 5-10% of clomiphene-assisted conceptions are multiple  embryo
transfer of more than two fertilised ova at IVF is now only performed in the UK in exceptional circumstances
• Vomiting may be more marked in early pregnancy  the uterus is also larger for expected from the dates and
palpable <12 weeks
• Later in pregnancy  there will be three or more foetal poles  but most are diagnosed only at USS
COMPLICATIONS
MATERNAL
• All obstetric risks are exaggerated in multiple pregnancies  gestational diabetes and pre-eclampsia are
particularly more frequent
• Anaemia is common  partly because of a greater increase in blood volume causing dilutional effect and
partly because more iron and folic acid are needed
FOETAL ANTENATAL
All multiples
• Twins have greater mortality (x6) and long-term handicap (x5)
• Triplets fare even worse  with an x18 increase in handicap
• The major risk factors
o Preterm delivery
o IUGR
o Monochrorionicity
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• Miscarriage  one of a twin pregnancy can ‘vanish’ where there is a 1st trimester death  late miscarriage is
also more common, particularly in MC twins are complication of twin-twin transfusion syndrome
• Preterm labour  main cause of perinatal mortality  40% of twins and 80% of triplet pregnancies deliver
before 36 weeks  10% of twins deliver before 32 weeks
• IUGR  much more common
• Congenital abnormalities  not more common per baby in dichorionic  but they are in monochorionic
pregnancies
Monochorionic pregnancies
• These largely result from the shared blood supply in the single placenta
• Twin-twin transfusion syndrome (TTTS)  occurs only in MCDA twins, the most common form of identical
twins and in about 15%  results from unequal blood distribution through vascular anastomoses of the
shared placenta  one twin (the donor) is volume depleted and develops anaemia, IUGR and
oligohydramnios  one twin (the recipient) becomes volume overloaded and may develop polycythaemia,
cardiac failure and massive polyhydramnios causing massive distension of the uterus (in extremis)  disease
is staged according to Quintero in stages 1-5  both twins are at very high risk of in utero death or severely
preterm delivery
• Twin anaemia polycythaemia sequence (TAPS)  occurs where there are marked Hb differences between MC
twins, but in the absence of the liquor volume changes characteristic of TTTS  occurring as a consequence
of small placental anastomoses  it can follow incomplete laser ablation for TTTS
• Twin reversed arterial perfusion (TRAP)  rare abnormality of MC twins  an abnormal, often acardiac foetus
is perfused by a normal ‘pump’ twin  therefore is at risk of cardiac failure
• Intrauterine growth restriction (IUGR)  more common in MC twins, in the absence of clear blood volume
discordancy  a particular problem is where the umbilical artery waveform of the smaller twin is very erratic
 this may be the result of the superficial artery-artery anastomoses  sudden in utero death occurs in up to
20% and handicap in 8%
• Co-twin death  if one of an MC twin pair dies due to TTTS or any other cause  the drop in its blood
pressure allows acute transfusion of blood from the other twin  this rapidly leads to hypovolaemia and in
30% of cases, death or neurological damage
• Monoamniotic twins  the cords are always entangled  in utero demise is common, probably because of
this and/or sudden acute shunting of blood between the two babies in anastomoses between the close cord
insertions
INTRAPARTUM
• Malpresentation  of the 1st twin occurs in 20%  this is an indication for C-section
• Foetal distress  common in labour  the 2nd twin delivered has an increased risk of death (x5) after the first
has been delivered because of hypoxia, cord prolapse, tetanic uterine contraction or placental abruption 
may present as breech
• Postpartum haemorrhage  more common (10%)
MANAGEMENT
ANTEPARTUM MANAGEMENT
All multiples
• The pregnancy should be considered high-risk  iron & folic acid supplements are prescribed and low-dose
aspirin is advised if there are other risk factors to prevent pre-eclampsia
• Multiple pregnancies increase maternal tiredness and anxiety
• NICE recommends a specialist and MDT supervise pregnancy care
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• Chronicity is most accurately ascertained in the 1st trimester
o DC twins  dividing membrane is thicker as it meets the placentas (lambda sign)
o MC twins  dividing membrane is thinner and perpendicular to the shared placenta (T sign)
• IUGR is harder to detect in multiple pregnancies  serial USS for growth are routinely performed at 28, 32
and 36 weeks  more often in MC twins
• Delivery at 37 weeks for DC and 36 weeks for uncomplicated MC twins
Monochorionic twins
• USS surveillance for MC twins starts by 12 weeks  USS is advised every 2 weeks until 24 weeks and every 2-
3 weeks after that
• TTTS is most commonly diagnosed between 16-24 weeks  growth and liquor volume discordancies with
polyhydramnios are evident  laser ablation of the entire placental interface in a foetal medicine centre,
using USS and fetoscopy, is preferred treatment  even with optimal treatment, survival of both twins in 50%
and one twin is 80%, but 10% of survivors have neurological disability  pregnancies complicated by TTTS
after 26 weeks are usually delivered
• IUGR is managed by careful surveillance and iatrogenic preterm delivery  occasionally laser ablation or
umbilical cord occlusion are appropriate if at ‘pre-viable’ gestations
High order multiple pregnancy

• Selective reduction  to a twin pregnancy at 12 weeks should be discussed with women with triplets or
higher order pregnancies  this is highly emotive  slightly increases early miscarriage rates, it reduces the
chances of preterm birth and therefore cerebral palsy  safest before 14 weeks
• Surveillance according to the chorionicity  delivery by 36 weeks is usually advised
Foetal Abnormality
• Before 14 weeks  intracardiac injection of KCL can be used in DC twins  it can be offered up to 32 weeks if
late termination of pregnancy is legal
• In MC twins  the cord must be occluded using bipolar diathermy or its insertion ablated as the circulation is
shared
INTRAPARTUM MANAGEMENT
Mode of Delivery
• If the presenting twin is cephalic  C-section does not improve perinatal outcome  it is only indicated if the
1st twin is breech or transverse lie, with high order multiples or if there have been antepartum complications
• Vaginal delivery when the 1st foetus is cephalic is commonplace, whatever the lie or presentation of the 2nd
Method of Delivery
• Induction is usually at 37 weeks (DC twins) or 36 weeks (MC twins)  after which time perinatal mortality is
increased
• CTG monitoring is advised  risk of intrapartum hypoxia is increased, particularly in 2nd twin
• Epidural analgesia is not mandatory, but helpful if difficulty is encountered with the 2 nd twin
• Contractions often diminish after the 1st twin  usually these return within a few minutes, if not oxytocin can
be started  the lie of the 2nd twin is checked and ECV performed if it is not longitudinal
• Excessive delay between twins is associated with increased mortality for 2nd twin  but excessive haste is
equally dangerous
• After delivery, a prophylactic oxytocin infusion is used to prevent postpartum haemorrhage
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LABOUR – MECHANISM
MECHANICAL FACTORS OF LABOUR

• Three mechanical factors determine progress during labour
o Power  the degree of force expelling the foetus
o Passage  the dimensions of the pelvis and the resistance of soft tissue
o Passenger  the diameters of the foetal head
POWER
• Once labour is established  the uterus contracts for 45-60secs every 2-4mins  this pulls the cervix up
(effacement) and causes dilation  aided by the pressure of the head as the uterus pushes the head down
into the pelvis
• Poor uterine activity is a common features of the nulliparous women and induced labour  rare in
multiparous women
PASSAGE
The bony pelvis
• This has 3 principal planes
o Inlet  13cm transverse diameter
o Mid-cavity
o Outlet  12.5cm AP diameter
• Ischial spines are landmarks by which to assess the descent of the head of vaginal examination  the level of
descent is called ‘station’  crudely measured in cms in relation to the spines  station 0 means the head is
at the level of the spines, while +2 is 2cm below and -2 is 2cm above
• A variety of pelvic shapes are described  but diagnosis and therefore description of these are seldom useful
in clinical practice
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Soft Tissues
• Cervical dilation is a prerequisite for delivery  it is dependent on contractions, the pressure of the foetal
head on the cervix and the ability of the cervix to soften and allow distension
• The soft tissues of the vagina and perineum need to be overcome in the 2nd stage  the perineum often tears
or is cut (episiotomy) to allow the head to deliver
PASSENGER
• The head is oblong in transverse section  its bones are not yet fused and spaces between them are palpable
as sutures and fontanelles
• The anterior fontanelle (bregma) lies above the forehead  the posterior fontanelle (occiput) lies on the back
of the top of the head  between these two is the vertex
• In front of the bregma is the brow  because the head is not round, several factors determine how easily it
fits through the pelvic diameters
Attitude – extended/flexed
• The attitude is the degree of flexion of the head on the neck  the ideal attitude is maximal flexion, keeping
the head bowed  this is called vertex presentation and the presenting diameter is 9.5cm running from the
anterior fontanelle to below the occiput at the back of the head
• A small degree of extension results in a larger diameter  extension of 90o causes a brow presentation and a
much larger diameter of 13cm  a further 30o extension is a face presentation
• Exetension of the head can mean that the foetal diameters are too large to delivery vaginall
Position – rotation
• The position is the degree of rotation of the head on the neck
• If the sagittal suture is transverse, the oblong head will fit the pelvic inlet best  but at the outlet the sagittal
suture must be vertical for the head to fit  the head must therefore rotate 90o during labour
• It is usually delivered with the occiput-anterior (OA)  in 5% of deliveries it may be OP and more difficulty
may be encountered  persistence of the OT position implies non-rotation and delivery without assistance is
impossible
Size of head
• The head can be compressed in the pelvis as the sutures allow the bones to come together and even overlap
 this slightly reduces the diameters of the head and is called moulding
• Pressure of the scalp on the cervix or pelvic inlet can cause localised swelling or caput  it is relatively
unusual for a normally formed head to be simply too big to pass through the normal bony pelvis  although a
larger head may cause a longer and more difficult labour
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CERVICAL DILATION – THE STAGES OF LABOUR

INITIATION AND DIAGNOSIS OF LABOUR
• Involuntary contractions of uterine smooth muscle occur
throughout the 3rd trimester  often felt as Braxon Hicks
contractions
• It is not full understood how the is achieved, but the foetus has a
role and prostaglandin production is important in both reduction of
cervical resistance and increasing release of oxytocin from the
posterior pituitary  this aids stimulation of contractions, which
arise in one of the pacemakers situated at each cornu of the uterus
• Labour is diagnosed when painful regular contractions lead to
effacement and dilation of the cervix  effacement is when the
normally tubular cervix is drawn up into the lower segment until it is
flat  this is commonly accompanied by a ‘show’ or pink/white
mucus plug from the cervix and/or rupture of the membranes
causing release of liquor
• Labour in multiparous women is often much faster than in
nulliparous ones
THE FIRST STAGE

• This lasts for the diagnosis of labour until the cervix is dilated to
10cm (fully dilated)
• The descent, flexion and internal rotation described occur to varying
degrees
• If the membranes have not already ruptured  they normally do
now
• The latent phase  where the cervix usually dilates slowly for the
first 4cm and may take several hours
• The active phase follows  average cervical dilation is at the rate of
1cm/h in nulliparous women and about 2cm/hr in multiparous
women  the active first stage should not normally last longer than
16hrs
THE SECOND STAGE

• This lasts from full dilation of the cervix to delivery  descent, flexion and rotation are completed and
followed by extension as the head delivers
• The passive stage  lasts from full dilation until the head reaches the pelvic floor and women experience the
desire to push  rotation and flexion are commonly completed  this stage may last a few minutres, but it
can be much longer
• The active stage  when the mother is pushing  the presence of the head on the pelvic floor produces an
irresistible desire to bear down, although spinal analgesia may prevent this
• The women gets in the most comfortable position for her, but not supine and pushes with contractions
• The foetus is delivered, on average, after 40 minutes (nulliparous) or 20 minutes (multiparous)  this stage
can be much quicker, but if it takes >1hr, spontaneous delivery becomes increasingly unlikely
DELIVERY
• As the head reach the perineum, it extends to come up out of the pelvis  the perineum begins to stretch
and often tears, but can be cut if progression is slow or foetal distress is present
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• The head then restitutes, rotating 90o to adopt the transverse position in which it entered the pelvis
• With the next contraction, the shoulder deliver  the anterior shoulder comes under the symphysis pubis
first, usually aided by lateral body flexion in a posterior direction  the posterior shoulder is aided by lateral
body flexion in an anterior direction  the rest of the body follows
THE THIRD STAGE

• This is the time from delivery of the foetus to delivery of the plaenta  it normally lasts about 15mins 
normal blood loss is <500ml
• Uterine muscle fibres contract to compress the blood vessels formerly supplying the placenta, which shears
away from the uterine wall
PERINEAL TRAUMA
• The perineum is intact in about ⅓ of nulliparous women and ½ of mutliparoud women
• Different tears
o 1st degree  minor damage to the fourchette
o 2nd degree & episiotomies  perineal muscle
o 3rd degree  anal sphincter (1%)
o 4th degree  anal mucosa
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LABOUR – MANAGEMENT
GENERAL CARE OF THE WOMAN IN LABOUR
• Temperature and BP should be monitored every 4hrs  pulse every hr (1st stage) and then every 15mins (2nd
stage)  contraction frequency every 30mins
• Position  most deliver in a semi-recumbent position – eg. squatting, kneeling or left-lateral position 
supine is avoided as can lead to compression of main blood vessels leading to reduced CO, hypotension and
foetal distress
• Eating is appropriate in labour  unless high risk, as may need a general anaesthetic
• Pyrexia in labour is >37.5oC  associated with an increased risk of neonatal illness  more common with
epidural and prolonged labour  paracetamol is administered, and IV antibiotics and CTG monitoring are
warranted if fever reaches 38oC
• Neglected retention of urine can cause irreversible damage to the detrusor muscle  frequent micturition is
encouraged in labour  catheterisation is required if an epidural is in situ
• Fear & anxiety can cause adrenaline secretion, which slows labour  the continued presence of a caregiver is
reassuring
PROGRESS IN LABOUR
• Progress in labour is dependent on power, passage and passenger  dilation of the cervix and progression of
the head are assessed on vaginal examination and recorded
• After the latent phase (<4cm dilated), the usual minimum rate of dilation is 1cm/hr
THE POWERS
• Inefficient uterine action is the most common cause of slow progression of labour  common in nulliparous
women and induced labour  persistently slow progress is treated with augmentatiom, initially with
amniotomy and then oxytocin
• Hyperactive uterine action occurs with excessively strong, frequent or prolonged contractions  foetal
distress occurs as placental blood flow is diminished and labour may be very rapid  associated with
placental abruption, too much oxytocin or a side effect of PG administered to induce labour  if no abruption
it can be treated with a tocolytic (eg. salbutamol IV), but C-section is often indicated because of foetal distress
Nulliparous Women
• Slow progress in the nulliparous women is usually due to inefficient uterine action  augmentation can
rectify this problem and involves artificial rupture of membranes (ARM/amniotomy) or IV oxytocin with a
gradually increasing dose  CTG is required
• Oxytocin usually increased cervical dilation within 4hrs if it is going to be effective  if full dilation not
imminent within 12-16hrs then C-section is performed
• If descent in poor, and oxytocin infusion should be started  pushing is not encouraged until the women
feels the urge  epidural diminishes this urge
• Pushing need not be directed unless ineffective or an epidural is present  if active 2nd stage lasts longer than
1-2hrs, then instrumental delivery is often required due to maternal exhaustion, foetal hypoxia and maternal
trauma
Multiparous Women
• Augmentation of labour in a multiparous women must be preceded by exclusion of malpresentation
THE PASSENGER
• The foetus can contribute to poor progress in labour
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• OP position  often combined with varying degrees of extensions causing a larger diameter  labour is often
longer and more painful with backache and an early desire to push  if labour is slow, augmentation is used
 is position is persistent (5%) then delivery will be ‘face to pubis’ and completed by flexion rather than
extension over the perineum  is associated with prolonged active 2nd stage, then instrumental delivery is
usually achievable with rotation to OA position using ventouse, manual rotation or Keilland’s forceps
• OT position  this occurs when normal rotation has been incomplete  occiput lies on the left or right 
only if vaginal delivery has not been achieved after 1hr of pushing in 2nd stage is the position significant, this is
common and usually associated with poor powers  rotation with traction is required for delivery to occur
and is achieved with the ventouse
• Brow presentation  rare, occurring in 1 in 1000 labours  extension of the foetal head on the neck results
in large presenting diameter that will not normally deliver vaginally  anterior fontanelle, supraorbital rides
and nose are palpable vaginally  C-section is required
• Face presentation  rare, occurring in 1 in 400 labours  complete extension of the head resulting in the
face being the presenting part  foetal compromise in labour is more common  presenting diameter is
9.5cm allowing vaginal delivery is most cases, as long as the chin is anterior  delivery is completed by flexion
over the perineum  if the chin is posterior then a C-section is indicated
THE PASSAGE
Cephalo-pelvic disproportion
• This is when the pelvis is too small to allow passage of the head, but can almost never be diagnosed with
certainty  depends on foetal and pelvic size  it is most commonly a retrospective diagnosis, defined as the
inability to deliver a particular foetus despite
o The presence of adequate uterine activity
o The absence of a malposition or presentation
• Cephalo-pelvic disproportion is more likely with a large baby, with very short women or where the head in a
nulliparous women remains high at term
Pelvic Variants and Deformities

• The gynaecoid pelvis is found in 50-80% of Caucasian women
• The anthropoid pelvis if found in 20% of women  it has a narrower inlet, with a transverse diameter often
less than the AP diameter
• The android pelvis is found in 5% of women  it has a heart-shaped inlet and a funnelling shape to the mid-
pelvis
• The platypelloid pelvis is found in 10% of women  the oval shape of the inlet persists within the mid-pelvis
• Abnormal pelvis architecture is usually confined to the developing world due to poor health and nutrition
• Rarely, a pelvic mass blocks engagement and descent of the head  eg. ovarian tumour or uterine fibroid 
palpable vaginally and C-section is indicated
THE CERVIX
• The role of the cervix is to prevent the foetus from literally dropping out before term  it is the strength of
contractions along with a complex mechanisms involving hydration of the cervical collagen
• Cervix may determine the course of labour  but the clinical relevance of this is poorly understood
CARE OF THE FOETUS

• Permanent foetal damage attributable to labour is uncommon  on 10% of cases of cerebral palsy are
attributed solely to intrapartum problems
• There are several causes of damage
o Foetal hypoxia  commonly described as ‘distress’
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o Infection/inflammation in labour  eg. GBS
o Meconium aspiration leading to chemical pneumonitis
o Trauma  commonly due to obstetric intervention (eg. forceps)
o Foetal blood loss
FOETAL DISTRESS AND HYPOXIA

• Foetal distress  hypoxia that might result in foetal damage or death if not reversed or the foetus delivered
urgently  foetal scalp blood with pH of <7.2 indicates significant hypoxia  however, it is only pH <7 that
neurological damage is considerably more common and even then most babies with neurological damage had
a normal pH at birth  this suggests other influences, such as IUGR or maternal fever on neonatal outcome
• Contractions temporarily reduce placental perfusion  may compress the umbilical cord  so longer labours
and those with excessive time spent pushing are more likely to produce hypoxia
• Acute hypoxia in labour can be due to
o Placental abruption
o Hypertonic uterine states
o Use of oxytocin
o Prolapse of the umbilical cord
o Maternal hypotension
• Intrapartum risk factors include
o Long labour
o Meconium
o Epidurals
o Oxytocin
• Antepartum risk factors include
o Pre-eclampsia
o IUGR
Diagnosing Foetal Distress

• Colour of the liquor  meconium is the bowel contents of the foetus that stains the amniotic fluid  rare in
preterm foetuses, but common after 41 weeks  meconium very diluted in amniotic fluid is not significant,
but undiluted it shows an fourfold increase in perinatal mortality, but not a reliable indicator of foetal well-
being  it is an indication for caution because
o Foetus may aspirate it causing meconium aspiration syndrome
o Hypoxia is more likely
• Foetal heart auscultation  the heart is ausculated every 15 minutes during the 1st stage and every 5 mins
during the 2nd stage using a Pinard’s stethoscope or handheld Doppler  distressed foetus normally exhibits
abnormal heart rate patterns  used in low-risk pregnancies, but if abnormalities are heard or risk factors
develop then a CTG is indicated
• CTG  this records the foetal heart rate on paper/electronically either from a transducer on the mother’s
abdomen or from a probe attached to the foetal scalp  another transducer records the uterine contractions
• Foetal blood sampling  blood is taken from the scalp, if the pH is <7.2 then delivery is expedited in the
fastest way possible
CTG Monitoring in Foetal Distress

• CTGs are classified as normal, non-reassuring or abnormal according to four key features
o Baseline rate  should be 110-160bpm  tachycardias are associated with fever, foetal infection
and potentially foetal hypoxia  a steep, sustained deterioration in rate suggests acute foetal distress
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o Baselin variability  the short-term variation in FHR should be >5bpm, except during episodes of
foetal sleep which usually last less than 45mins  prolonged reduced variability, particularly with
other abnormal features suggest hypoxia
o Accelerations  increases in the FHR with movements or contractions are reassuring
o Deceleration
▪ Early decelerations  synchronous with a contraction as a normal response to head
compression and therefore are usually benign
▪ Variable decelerations  vary in timing and classically reflect cord compression, which can
ultimately cause hypoxia
▪ Late decelerations  persist after the contraction is completed and are suggestive of foetal
hypoxia  the depth of the deceleration is usually unimportant
• Indications for using a CTG

o Pre-labour  pre-eclampsia, IUGR, previous C-section or induction
o In labour  presence of meconium, use of oxytocin, temperature >38oC, epidural anaethesia
OTHER CAUSES OF FOETAL DAMAGE

• Foetal infection and inflammation  GBS affects 1.7 per 1000 live births  fever is a strong risk factors for
seizures, foetal death and cerebral palsy even in the absence of evidence of infection  treated with
antibiotics and antipyretics
• Meconium aspiration  when aspirated into the lungs it causes severe pneumonitis  more common in the
presence of foetal hypoxia, but can occur without it  if meconium is thick It can be diluted in the uterus to
reduce the risk of aspiration, but maternal safety is unproven
• Foetal trauma  trauma may be iatrogenic (instrumental delivery) or from shoulder dystocia
• Foetal blood loss  this is rare and due to vasa praevia, foeto-maternal haemorrhage or occasionally
placental abruption
CARE OF THE MOTHER

PAIN RELIEF IN LABOUR
• Non-medical  preparation at antenatal classes, presence of birth attendant and maintenance of mobility all
help women cope with pain  immersion in water at body temperature helps  other possible unscientific
methods
o TENS
o Hypnotherapy
o Acupuncture
o Localised pressure on back
o Superficial heat or cold
o Massage
o Aromatherapy
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• Inhalation agents  Entonox is an equal mix of nitrous oxide and oxygen  rapid onset and mild analgesia 
insufficient for most mothers and can cause light-headedness, nausea and hyperventilation
• Systemic opiates  Pethidine and Meptid are widely used IM injections  analgesic effect is small and may
women become sedated, confused or feel out of control  anti-emetics are normally needed  can also
cause respiratory depression in the newborn
• Epidural anaesthesia  combination of an opiate (fentanyl) and local anaesthetic (bupivacaine or ropivacaine)
delivered to an indwelling catheter in the epidural space between L3-4 or L4-5  given as a loading dose with
intermittent ‘low dose’ top ups  should remove pain sensation but may also cause motor blockade  can
be used in the entire labour and in obstetric procedures if topped up
ANAESTHESIA FOR OBSTETRIC PROCEDURES

• Spinal anaesthesia  local anaesthetic is injected as a single shot through the dura mater into the CSF  this
rapidly produces a short-lasting, but effective local analgesia (& motor blockade) that is suitable for C-section
or mid-cavity instrumental vaginal delivery  complications include hypotension
• Epidural anaesthesia  higher dose epidural analgesia can be used for both instrumental delivery and C-
section  for the latter, a combination of spinal and epidural is best, allowing rapid onset due to spina; and
longer lasting anaesthesia with the opportunity for top ups due to the epidural
• Pudendal nerve block  local anaesthetic is injected bilaterally around the pudendal nerve where it passes
the ischial spin  this is suitable for low-cavity instrumental vaginal deliveries
CONDUCT OF LABOUR
INITIATION AND DIAGNOSIS OF LABOUR
• Women is advised to contact maternity services if contractions are regular, painful, lasting at least 30 seconds
and occurring every 3-4 minutes, or if the membranes rupture
• Presentation is checked and vaginal examination looks at cervical effacement and dilation to confirm
diagnosis of labour  the degree of descent is also assessed and the colour of leaking liquor is noted
• Every 15 minutes the foetal heart is listened to for 1 minutes following a contraction  if the pregnancy is
high risk or meconium is seen or there is maternal fever, a CTG is started
• At this stage, account must be taken of the women’s wishes for labour and the birth plan should be read
FIRST STAGE OF LABOUR

• The mother is made comfortable and encouraged to remain mobile  supine position is avoided
• If analgesia is requested, then Entonox can be used for short-term relief, but commonly an epidural is used 
catheterisation will be required if an epidural is given, but otherwise not routine
• The foetal heart is ausculated every 15 minutes or monitored on a CTG  if abnormal and delivery needs to
be expedited, the only option is a C-section
• Progress is assessed every 4hrs by vaginal examination  dilation and descent are estimated digitally in
centimetres
• Slow dilation after the latent phase can be treated with ARM  if progress continues to be slow, oxytocin is
used in a nulliparous women and a multiparous women (if malpresentation has been excluded)
• If the cervix is not fully dilated by 12-16hrs then a C-section is appropriate unless delivery can be anticipated
in the next hour or two
SECOND STAGE OF LABOUR

• If there is no epidural, pushing is encouraged when the mother has the desire to push or the head is visible 
if an epidural is in situ then at least an hour is waited before pushing and oxytocin is administered to a
nulliparous women and descent is poor
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• Directed pushing  if an epidural is in situ the women is instructed to push three time for about 10 seconds
during each contraction
• Foetal distress is normally diagnosed the same as in the 1st stage using FHR and scalp blood sampling
• If delivery is not imminent after 2hrs of pushing (1hr in multiparous) or there is foetal distress  expiedition
of delivery is usually recommended  with ventouse or forceps
• Episiotomy should be reserved for when there is foetal distress or where the head is not passing over the
perineum despite maternal effort, or if a large tear is likely  if it is performed, the perineum is infiltrated
with local anaesthetic and a 3-5cm cut is made from the centre of the fourchette at a 45o angle to the
(mother’s) right side of the perineum
• When the head starts to deliver, the mother is asked to stop pushing and to pant slowly  the attendant may
press on the perineum and the head (hands on) to prevent a rapid delivery and perineal damage  the head
then resitutes
• With the next contraction, maternal pushing and gentle downward traction on the head leads to delivery of
the anterior shoulder  traction is then directed upward to deliver the posterior shoulder
• Unless requiring resuscitation, the baby is delivered onto the mother’s chest and wrapped to keep warm 
the umbilical cord should not be clamped for at least a minute unless resuscitation is urgently required
THIRD STAGE OF LABOUR

• Oxytocin is administed IM to help the uterus contract once the shoulder are delivered  a combination of
ergometrine and oxytocin is often used, but frequently leads to maternal vomiting
• Active management of the 3rd stage can be unpopular, but reduces the incidence of PPH and need for blood
transfusion
• Once placental separation is evident from lengthening of the cord and the passage of blood  continuous
gentle traction on the cord allows delivery of the placenta  at the same time the left hand pushes down
suprapubically to prevent uterine inversion
• The placenta ia checked for missing cotyledons and the vagina and perineum for tears
• Once these are sutured, a check has been performed, blood loss recorded  the mother can be cleaned,
made comfortable and encourage to breast feed  maternal observation should be continued for at least
2hrs
• Retained placenta  a 3rd stage longer than 30mins and occurs at 2.5% of deliveries  partial separation may
provoke considerable blood loss into the uterus causing it to enlarge and leading to hypovolaemia  in the
absence of bleeding, 1hr is left for natural separation, after which the placenta is ‘manually’ removed 
blood is cross matched and IV antibiotics given
PERINEAL REPAIR
• First and second degree tears  along with uncomplicated episiotomies without anal sphincter damage are
sutured under local anaesthetic  failure to suture reduced haling may cause more pain  absorbable
synthetic material is used, continuous sutures for the muscle and subcuticular layer for the skin  a rectal
and vaginal examination excludes sutures that are too deep and retained swabs
• Third and fourth degree tears  occur in 1-3% of deliveries  the sphincter is repaired under epidural or
spinal anaesthetic with the visualisation and asepsis of an operating theatre  the torn ends of the external
sphincter are mobilised and sutured, with the internal sphincter sutured separately if damaged  antibiotics
and laxatives are given, as well as analgesia  physiotherapy assessment  long-term up to 30% of women
have sequelae – incontinence or urgency
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LABOUR – SPECIAL CIRCUMSTANCES

INDUCTION OF LABOUR
METHODS OF INDUCTION
• Successfulness of induction depends on the state or ‘favourability’ of the cervix  related to…  often
scored out of 10, as the ‘Bishop’s score’ – the lower the score, the more unfavourable the cervix
o ‘Consistency’
o Degree of effacement or early dilation
o How low the head is in the pelvis (station)
o Cervical position (anterior or posterior)
• Induction with prostaglandins (PGE2)  gel or slow-release preparation is inserted into the posterior vaginal
fornix  best method for nulliparous women and in multiparous women (unless the cervix is favourable)  it
either starts labour or the ‘ripeness’ of the cervix is improved to allow amniotomy
• Induction with amniotomy ± oxytocin  forewaters are ruptured with an amnihook  oxytocin infusion is
then started within 2hrs if labour has not ensued  oxytocin is often used alone if spontaneous rupture of
the membranes have already occurred, although PGs are as effective
• Natural induction  cervical sweeping involves passing a finger through the cervix and ‘stripping’ between
the membranes and the lower segment of the uterus  at 40 weeks, this reduces the chance of induction
and postdates prengnancy, but can be uncomfortable
INDICATIONS FOR INDUCTION

• Foetal indications  high-risk situations
o Prolonged pregnancy
o Suspected IUGR or compromise
o Antepartum haemorrhage
o Poor obstetric history
o Prelabour term rupture of membranes (PROM)
• Materno-foetal indications  pre-eclampsia and maternal disease (eg. diabetes)
• Maternal indications  social reasons and in utero death
• Routine indications  studies show lowest perinatal and infant mortality rate is achieved by delivery at 38
weeks
CONTRAINDICATIONS FOR INDUCTION

• Absolute contraindications
o Acute foetal compromise  eg. abnormal CTG
o Abnormal lie
o Placenta praevia
o Pelvic obstruction
o >1 C-section
• Relative contraindications  >1 C-section and prematurity
MANAGEMENT AND COMPLICATIONS OF INDUCTION

• Foetus as increased risk in labour due to indications and drugs used  CTG should be used for 1hr  oxytocin
is commonly required in labour and also warrants CTG monitoring
• Induction commonly increases the time spent in ‘early labour’ and the woman should be warned of this
• Labour may fail to start or be slow due to inefficient uterine activity  paradoxically, overactivity of the
uterus can occur  this hyperstimulation is rare, but causes foetal distress and even uterine rupture
• Other complications
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o PPH o Prematurity
o Intrapartum/postpartum infection o Instrumental delivery or C-section
LABOUR/VAGINAL BIRTH AFTER A PREVIOUS CAESAREAN SECTION

• Vaginal birth after caesarean (VBAC) can often be safely achieved  contraindications include
o All absolute indications for C-section
o Vertical uterine scar
o Previous uterine rupture
o Multiple previous C-sections (≥2)
• If a VBAC is attempted  72-75% of women will deliver vaginally  the others will require an emergency C-
section in labour
• Factors associated with increased success
o Spontaneous labour
o Interpregnancy interval <2yrs
o Low age and BMI
o Caucasian race
o Previous vaginal delivery
o Previous elective C-section or due to foetal distress (not dystocia)
• Risk of maternal death is approx. 13 in 100,000  double planned C-section
• Uterine rupture occurs in 0.5% of VBAC attempts after 1 C-section and 1.3% after 2 C-sections  these
amount to 0.04% risk of delivery related death with planned VBAC
• The overall risk of foetal mortality with VBAC is approx. the same risk as found in a 1 st labour
• Delivery in hospital and with CTG monitoring is advised because of risk of scar rupture  induction is usually
avoided as it is associated with a higher risk of rupture  augmentation also increased the risk of scar rupture
• Scar rupture usually presents a
o Foetal distress
o Scar pain
o Cessation of contractions
o Vaginal bleeding
o Maternal collapse
PRELABOUR TERM RUPTURE OF THE MEMBRANES

• In 10% of women after 37 weeks  the membranes rupture before the onset of labour  60% will start
labour within 24hrs
• Typically, there is a gush of clear fluid, which is followed by an uncontrollable intermittent trickle  is
occasionally initially confused with urinary incontinence  ‘point of care tests’ (Actim PROM) may help where
the diagnosis is not clear
• A few only have ‘hindwater’ rupture  liquor leaks, but membranes remain intake in front of the foetal head
• Risks of PROM
o Cord prolapse  rare and usually a complication of transverse lie or breech presentation
o Neonatal infection  small, but definite risk  increased by vaginal examination, presence of GBS
and increased duration of rupture
• Lie and presentation need checking  vaginal examine is usually avoided, but may be performed in a sterile
manner if there is risk of cord prolapse  foetal auscultation or CTG are performed
• Management options
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o Spontaneous labour  wait for <24hrs  presence of meconium or evidence of infection warrants
immediate induction  after 18-24hrs, prophylactic antibiotics given against GBS and to induce
labour
o Induced labour  does not increase risk of C-section and associated with lower chance of maternal
infection
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INSTRUMENTAL AND OPERATIVE DELIVERY

FORCEPS OR VENTOUSE DELIVERY
• Allows the use of traction if delivery needs to be expedited in the 2nd stage
• The shape of the pelvis will only delivery if the occiput is anterior (occasionally posterior)  rotation may be
required and in the absence of rotation, then instrumental delivery simply add power
• The aim is to prevent foetal and maternal morbidity associated with a prolonged 2nd stage or expedite where
the foetus is compromised
• In the UK, approx. 20% of nulliparous and 2% of multiparous women are delivered by forceps or ventouse
Ventouse
• Consists of a plastic, rubber or metal cap connected to a handle  the cap is fixed near the foetal occiput by
suction
• Traction during maternal pushing will deliver the OS positioned head  also often allows the shape of the
pelvis to simultaneously rotate a malpositioned head to the OA position
Obstetric Forceps
• Come in pairs that fit together for use  each has a ‘blade’, shank, lock and handle  when assembled the
blade fits around the foetal head and the handles fit together  the lock prevents them from slipping apart
• Non-rotational forceps (eg. Simpson’s)  grip the head in whatever position it is in and allows traction  only
suitable for OA position  have a cephalic curve for the head and a pelvic curve which follows the sacral
curve
• Rotational forceps (eg. Keilland’s)  have no pelvic curve and enable a malpositioned head to be rotated by
the operator to an OA position before traction is applied
SAFTEY OF VENTOUSE AND FORCEPS

• Failure  both methods of delivery can faile  this is more common with ventouse as the cup can be placed
inacurrately
• Maternal complications  need for analgesia is greater with forceps  use of either instrument can cause
vaginal lacerations, 3rd degree tears and PPH
• Foetal complications  slightly worse with ventouse  ‘chignon’ (swelling on scalp) is usual as it is drawn in
with suction of the cup  scalp lacerations, cephalhaematomate and neonatal jaundice are more common
with ventous  facial bruising, facial nerve damage and skull fractures can occasionally occur with injudicious
use of forceps and prolonged traction by either instrument is dangerous
• Changing instrument  this is associated with increased foetal trauma  usually only appropriate (only once)
if the ventouse has achieved decents to the pelvic outslef, but then comes off the head and is replaced by a
low cavity forceps delivery
INDICATIONS FOR INSTRUMENTAL VAGINAL DELIVERY

• Prolonged 2nd stage  most common indication  usual if 1-2hrs of pushing has failed to deliver the baby 
if mother is exhausted it may be performed earlier
• Foetal distress  more common in 2nd stage  delivery can be expedited
• Prophylactic use  indicated to prevent pushing in women with medical problems (e. severe cardiac disease
or hypertension)
• Breech delivery  forceps are occasionally applied to the after-coming head
• With either instrument  if moderate traction does not produce immediate and progressive descent, then C-
section is indicated
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LOW AND MID-CAVITY DELIVERY
Low-cavity Delivery
• Head is well below the ischial spines  bony prominences palpable vaginally on the lateral wall of the mid-
pelvis  usually OA position
• Forceps or ventouse are appropriate  latter better if maternal effort is poor  pudendal block with perineal
infiltration is usually sufficient analgesia
Mid-cavity Delivery
• Head is engaged, but at or just below the level of the ischial spines  epidural or spinal anaesthesia is usual
 if there is any doubt that delivery will be successful, it is attempted in the operating theatre, with full
preparations for a C-section
• Occipito-anterior (OA) position  forceps or ventouse can be used
• Occipito-transverse (OT) position  usually the result of insufficient descent of the head to make it rotate 
descent is achieved with ventouse  rotation in situ followed by descent can also be achieved by manual
rotation or Kielland’s rotational forceps
• Occipito-posterior (OP) position  often accompanied by extension of the foetal head, making the presenting
diameter too large for the pelvis  dragging out a baby in this position may fail or cause severe perineal
damage  rotation of 180O can be achieved manually or with the ventouse/Kielland’s forceps
PREREQUISITES FOR INSTRUMENTAL VAGINAL DELIVERY
• The head must not be palpable abdominally
• On vaginal examination the head must be at or below the level of the ischial spines
• The cervix must be fully dilated
• The position of the head must be known
• There must be adequate analgesia
• The bladder should be empty
CAESAREAN SECTION
• Delivery by C-section occurs for about 25% of births in the developed world  the usual operation is the
lower segment operation (LSCS)  the abdominal wall is opened with a suprapuvic transverse incision  the
lower segment of the uterus is also incised transversely to deliver the baby
INDICATIONS FOR C-SECTION

Emergency C-section
• Usually performed in labour  may also occur with acute antepartum problems – eg. placental abprution
• Prolonged 1st stage  diagnosed when full dilation is not imminent by 12-16hrs or earlier if labour was initially
rapid  occasionally full dilation is achieved, but not all the criteria for instrumental delivery are met  most
commonly, it is due to abnormalities of the ‘powers’ – eg. insufficient uterine action  the ‘passenger’ or
‘passage’ may also contribute
• Foetal distress  diagnosed from abnormalities of the foetal heart rate  normally in conjunction with blood
sampling  a C-section is performed if it is quickest route of delivery
Elective C-section
• Performed to avoid labour  normally at 39 weeks as this reduces the risk of transient tachypnoea of the
newborn from 6% (38 weeks) to 4%  if earlier, administration of steroids should be considered
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• Absolute indications
o Placenta praevia
o Severe antenatal foetal compromise
o Uncorrectable abnormal lie
o Previous vertical C-section
o Gross pelvic deformity
• Relative indications
o Breech presentation
o Severe IUGR
o Twin pregnancy
o Certain medical disorders
o Previous C-section
o Older nulliparous patients
• When delivery is needed before 34 weeks  it is usual to perform C-section rather than induce labour 
most common indications are severe pre-eclampsia and severe IUGR
SAFETY AND COMPLICATIONS OF C-SECTION

Maternal
• Complications are more common when the procedure is in labour, than when it is elective  may also be
related to the indication for the C-section
o Haemorrhage
o Need for blood transfusion
o Infection of the uterus or wound
o Rare visceral causes  eg. bladder or bowel damage
o Post-operative pain & immobility
o Venous thromboembolism
• Preoperative prophylactic antibiotics reduce the incidence of infection and thromboprophylactic measures
are routine  approx 1 in 5000 women will die after C-section
Foetal
• An elective procedure increases the risk of foetal respiratory morbidity at any given gestation  in
uncomplicated pregnancy it is not recommended before 39 weeks
• Foetal lacerations are rare and usually minor
• Bonding and breastfeeding are particularly affected by emergency procedures
Subsequent Pregnancies
• The incidence of placenta praevia is more common in prengnancies after a C-section
• The placenta may implant more deeply than normal in the myometrium (accreta) or through into
surrounding structures (percreta)
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OBSTETRIC EMERGENCY
SHOULDER DYSTOCIA
• When additional manoeuvres are required after normal downward traction has failed to deliver the shoulders
after the head has delivered  occurring in 1 in 200 deliveries  requires urgent and skilled help
• Delay in delivery combined with unskilled attempts at delivery may cause brain injury or death  excessive
traction on the neck damages the brachial plexus (Erb’s palsy), which is permanent in 10% of cases
• The principal risk is a large baby (>4kg)  maternal diabetes doubles the risk at any given birthweight 
other antenatal risk factors include previous shoulder dystocia and obesity
• Intrapartum risk factors are dystocia and instrumental delivery  antenatal prediction is difficult
• Mangement is gentle downward traction  legs are hyperextended into on the abdomen (McRobert’s
manoeuvre) and suprapubic pressure is applied
• If this fails, internal manoeuvres are required (episiotomy) to rotate the shoulders into an oblique position or
even 180O  alternatively the posterior arm is grasped and by flexion of the elbow, the hand is brought
down, narrowing the obstructed diameter by the width of the arm
• Last resort is symphysiotomy  lateral replacement of the urethra with a metal catheter and the Zavanelli
manoeuvre  involves replacement of the head and C-section, but by this time foetal damage is usually
irreversible
CORD PROLAPSE
• Occur when the membranes have ruptured and the umbilical cord descends below the presenting part of the
foetus  untreated, the cord will be compressed or go into spasm and the baby will rapidly become hypoxic
• Occurs in 1 in 500 deliveries  the diagnosis is usually made at vaginal examination after the identification of
foetal distress
• Risk factors
o Preterm labour
o Breech presentation
o Polyhydramnios
o Abnormal lie
o Twin pregnancy
• Management is initially pushing the cord up by the examining finger or tocolytics are given (terbutaline) to
prevent compression of the cord  if the cord is out of the introitus, it should be kept warm and moist but
not forced back inside – the patient is asked to go on all fours while preparations for delivery by the safest
route are undertaken  immediate C-section is normally used, but instrumental vaginal delivery can be used
in cervix is fully dilated and the head is low
AMNIOTIC FLUID EMBOLISM

• When liquor enters the maternal circulation causing anaphylaxis with sudden dyspnoea, hypoxia and
hypotension  often accompanied by seizures and cardiac arrest  acute heart failure is evident
• It is extremely rare, but an important cause of maternal mortality  accounted for 10 of 214 maternal deaths
in the UK between 2011-2013
• If the women survives for 30 mins  she will rapidly develop DIC and often pulmonary oedema and ARDS 
in a few, haemorrhage from DIC is the 1st appearance
• Traditionally occurs when the membranes rupture  but may occur during labour, at C-section and even at
termination  there are multiple predisposing factors and prevention is impossible
• Diagnosis is easily confused with other causes of collapse and eclampsia  often only made with post-
mortem
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• Resuscitation and supportive treatment as for any cause of collapse  blood for clotting, FBC, electrolytes
and cross match are undertaken  treatment of massive obstetric haemorrhage (MOH) will be required
UTERINE RUPTURE
• The uterus can tear de novo or an old scar can open  the foetus is extruded, the uterus contracts down and
bleeds from the rupture site  causing acute foetal hypoxia and massive internal maternal haemorrhage
• Rupture of a lower transverse C-section scar is usually less serious than a primary rupture or one from a
classic C-section (vertical cut)  the lower segment is not very vascular and heavy blood loss/extrusion of
foetus into the abdomen is less likely  nevertheless, the neonatal mortality from these is about 10%
• Rupture occurs in 1 in 1500 pregnancies  in 0.5% of women who attempt a vaginal delivery after a previous
LSCS
• The diagnosis is suspected from foetal heart rate abnormalities or a constant lower abdominal pain  vaginal
bleeding cessation of contractions and maternal collapse may also occur
• Risk factors include
o Labours with a scarred uterus  classic C-section or deep myometectomy carries higher risk than
previous LSCS
o Neglected obstructed labour  rare in the West, but common obstetric emergency in developing
countries
o Congenital uterine abnormalities  occasionally causes rupture before labour
• Prevention measures include avoiding induction and caution when using oxytocin in women with previous C-
section  elective C-section in women with a uterine scar not in the lower segment
• The foetus will very rapidly die if extruded from the uterus and blood loss may be faster than can be replaced
 the uterus is repaired or removed  it has a high recurrence rate in subsequent pregnancy and early C-
section is required
OTHER OBSTETRIC EMERGENCIES

UTERINE INVERSION
• When the fundus inverts into the uterine cavity  usually follows traction on the placenta  occurs in 1 in
20,000 deliveries
• Haemorrhage, pain and profound shock are normal  a brief attempt is immediately made to push the
fundus up via the vagina
• If impossible, a GA is given and replacement performed with hydrostatic pressure of several litres of warm
saline, which is run past a clenched fist at the introitus into the vagina
EPILEPTIFORM SEIZURE
• Most commonly the result of maternal epilepsy or eclampsia  can also be due to hypoxia from any cause
• In the absence of cardiopulmonary collapse  diazepam will normally stop the fit  but it is wise to assume
the cause is eclampsia until it is excluded
• Magnesium sulphate is not useful in non-eclamptic seizures  therefore inappropriate where the diagnosis is
uncertain
LOCAL ANAESTHETIC TOXICITY

• Excessive doses or inadvertent IV doses of local anaesthetic can cause transient cardiac, respiratory and
neurological consequences  occasionally resulting in cardiac arrest
• Prevention is more important  treatment involves resuscitation and even intubation until the effects have
worn off
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THE PUERPERIUM
• Puerperium  the 6 weeks period following delivery when the body returns to its pre-pregnant state
PHYSIOLOGICAL CHANGES IN THE PUERPERIUM

GENITAL TRACT
• As soon as the placenta has separated, the uterus contracts and the fibres of the myometrium occlude the
blood vessels that formly supplied the placenta
• Uterine size reduces over 6 weeks  within 10 days the uterus is no longer palpable in the abdomen
• Contractions or ‘after-pain’ may be felt for 4 days  the internal os of the cervix is closed by 3 days
• Lochia (uterine discharge) may be blood-stained for 4 weeks  but thereafter is yellow or white
• Menstruation is usually delayed by lactation, but occurs at about 6 weeks if there is no lactation
CARDIOVASCULAR SYSTEM
• Cardiac output and plasma volume decrease to pre-pregnant levels within a week
• Loss of oedema can take up to 6 weeks
• If transiently elevated  BP is usually normal within 6 weeks
URINARY TRACT
• Physiological dilation of pregnancy reduces over 3 months  GFR decreases
BLOOD
• U&Es return to normal because of the reduction in GFR
• In the absence of haemorrhage  Hb and haematocrit rise with haemoconcentration
• WCC falls  platelets and clotting factors rise predisposing to thrombosis
GENERAL POSTNATAL CARE

• Counselling and practical help with breastfeeding are often require
• Uterine involution, lochia, BP, temperature, pulse and any perineal wounds are checked daily
• Careful fluid balance check should prevent retention in women who have had an epidural
• Analgesics may be required for perineal pain  also helped by pelvic floor exercises
• Psychiatric referral is suggested in women with a psychiatric history  postnatal plan including the GP should
be drawn up
LACTATION
• Lactation is dependent on prolactin and oxytocin
o Prolactin from anterior pituitary stimulates milk secretion  levels are high at birth, but it is the rapid
decline in oestrogen & progesterone after birth that cause milk to be secreted as prolactin is
antagoinsed by them
o Oxytocin from the posterior pituitary stimulate ejection in response to nipple suckling  which also
stimulates prolactin release and therefore more milk secretion
• As much as +1L of milk per day can be produced  dependent on demand
• Since oxytocin release is controlled via the hypothalamus  lactation can be inhibited by emotional or
physical stress
• Colostrum  a yellow fluid containing fat-laden cells, proteins (IgA) and minerals is passed for the first 3 days
 then milk ‘comes in’
• Women should be gently encouraged to breastfeed when the baby is ready  early feeding should be on
demand
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• Correct positioning is vital  the baby’s lower lip should be planted below the nipple at the time that the
mouth opens in preparation for receiving milk, so that the entire nipple is drawn into the mouth
• This could largely prevent the main problems of
o Insufficient milk
o Engorgement
o Mastitis
o Nipple trauma
PRIMARY POSTPARTUM HAEMORRHAGE

• Primary postpartum haemorrhage (PPH) is the loss of >500ml blood <24hrs after delivery ( or >1000ml after
C-section)  occurs in 10% of women and remains a major cause of maternal mortality
• Massive obstetric haemorrhage (MOH) is best defined as blood loss of >1500ml which is continuing
AETIOLOGY
• Retained placenta  occurs in 2.5% of deliveries  partial separation can cause blood to accumulate in the
uterus, which will rise  collapse may occur in the absence of external loss
• Uterine causes  accounts for 80%  uterus fails to contract properly, either because it is atonic or because
there is retained placenta  atony is more common with prolonged labour, grand multiparity, fibroids and
with overdistension of the uterus (polyhydramnios or multiple pregnancy)
• Vaginal causes  accounts for 20%  bleeding from perineal tear or episiotomy is obvious  high vaginal
tears must be considered, particularly after an instrumental vaginal delivery
• Cervical tears  rare, but associated with precipitate labour and instrumental delivery
• Coagulopathy  rare, but congenital disorders, anticoagulant therapy and DIC all cause PPH  if prescribed,
antenatal thromboprophylaxis should be stopped at least 12hrs before labour or delivery, but seldom causes
haemorrhage
PREVENTION OF PPH
• The routine use of oxytocin in the 3rd stage of labour reduces the incidence of PPH by 60%  oxytocin is as
effective as Ergometrin, which often causes vomiting and is contraindicated in hypertensive women
CLINICAL FEATURES OF PPH

• Blood loss should be minimal after delivery of the placenta  an enlarged uterus suggests a uterine cause
(above the level of the umbilicus)
• The vaginal walls and cervix should be inspected for tears
• Very occasionally, blood loss may be abdominal  there is collapse without overt bleeding
MANAGEMENT
• The priorities are
o Support
o Restoration of blood volume
o Treatment of any developing coagulopathy
o Cessation of the blood loss
• Where blood loss is >1500ml and is ongoing  a MOH protocol should be activated  it has clear algorithms
including the use of uncross-matched blood and anaesthetic, haematological and senior obstetric help
• Resucitation  nursed flat, oxygen is given, IV access is obtained and blood is cross-matched  fluid ± blood
is given
• Prevent/treat coagulopathy  FFP and cryoprecipitate may be required  tranexamic acid also reduces
bleeding
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• Retained placenta  should be removed manually if there is bleeding or if it is not expelled by normal
methods within 60mins of delivery
• Identify and treat cause
o Vaginal examination is performed to exclude rare uterine inversion
o Vaginal lacerations are often palpable
o Uterine causes are common  oxytocin and/or ergometrine are given IV if trauma is not obvious
o If this fails  an examination under anaesthetic (EUA) is performed
o If uterine atony persists  PGF2a is injected into myometrium
• Persistent haemorrhage  continuation despite medical treatment requires surgery  bleeding from
placental bed may respond to placement of a Rusch balloon  if other methods fail then hysterectomy
should not be delayed
PSYCHIATRIC PROBLEMS OF THE PUEPERIUM

‘THIRD DAY BLUES’
• Consisting of temporary emotional lability  affects 50% of women
• Support and reassurance are required
POSTNATAL DEPRESSION
• Affects 10% of women  but most do not present and receive no help
• Edinburgh Postnatal Depression Scale (EPDS) are helpful in identifying the problem, but screening is difficult
• Depression is more common in women who
o Are socially or emotionally isolated
o Have a previous history
o Have after pregnancy complications
• Postpartum thyroiditis should always been considered
• The severity is variable  symptoms include tiredness, guilt and feelings of worthlessness
• Treatment involves social support and psychotherapy  anti-depressants are used in conjunction with these
• Postnatal depression frequently recurs in subsequent pregnancies  associated with depression later in life
(70% risk)
• Suicide a major cause of death postpartum  most women have a history of depressive or other psychiatric
illness  this must be recorded at the booking visit
• In general, psychiatric drugs should be continued in pregnancy  by this decision should be made after
assessment of the risk and benefits  for depressive illness, SSRIs (fluoxetine) are preferred
• Women with a history of mental illness should be seen by a psychiatrist before delivery  an MDT post-
discharge should be arranged
• Urgent referral is indicated if there is a recent significant change in mental state, emergence of new
symptoms/thoughts/acts, estrangement from infant or persistent expression of incompetency as a mother
PUERPERAL PSYCHOSIS
• Affects 0.2% of women  characterised by abrupt onset of psychotic symptoms, usually around the 4th day
• More common in primigravid women with a family history
• Treatment involves psychiatric admission and major tranquillisers, after exclusion of organic illness
• There is usually full recovery, but some develop mental illness in later life  10% relapse after a subsequent
pregnancy
OTHER PROBLEMS OF THE PUERPERIUM

SECONDARY PPH
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• This is excessive blood loss occurring between 24hrs and 6 weeks after delivery  due to endometritis, with
or without retained placental tissue, incidental gynaecological pathology of gestational trophoblastic disease
 the uterus is enlarged and tender with an open internal os
• Vaginal swabs and FBC are taken, with cross-match in severe cases  USS may help detect retained products
although differentiation from blood clots is difficult
• If bleeding is heavy, then ERPC is used  if bleeding is more chronic, then antibiotics are initially used alone
• Characteristically, endometritis due to retained tissue causes bleeding that slows, but does not stop with
antibiotics and gets worse again after the course is finished
POSTPARTUM PYREXIA
• This is a maternal fever of ≥38oC in the first 14 days  infection is the most common cause
• Genital tract sepsis is a major cause of maternal mortality  it is most common after C-section, but
prophylactic antibiotics have considerably reduced this  Group A streptococcus, staphylococcus and E.Coli
are the most important pathogens in severe cases  lochia may be offensive and the uterus enlarged and
tender
• Other common infections
o Urinary tract infection (10%)
o Chest infection
o Mastitis
o Perineal infection
o Wound infection after C-section
• Deep vein thrombosis can also cause low-grade pyrexia
THROMBOEMBOLIC DISEASE
• Deep vein thrombosis and pulmonary embolism is a leading cause of maternal mortality  although less than
0.5% of women are affected
• ½ the deaths are postnatal  usually after discharge from hospital
• Early mobility and hydration is important for all women
HYPERTENSIVE COMPLICATIONS
• Pre-eclampsia and it complications are a major cause of maternal mortality  most deaths occur postpartum
• Although delivery is the only cure for pre-eclampsia  it often takes at least 24hrs before the illness improves
 BP usually peaks 4-5 days after delivery  may need treatment for weeks
• In all pre-eclamptic patients  attention is paid to fluid balance, renal function and urine output, BP and the
possibility of hepatic & cardiac failure
• Blood pressure measurement continues for 5 days postnatally
THE URINARY TRACT

• Retention of urine  common after delivery and usually painful  may present with frequency, stress
incontinence or severe abdominal pain, but the women or staff may not notice a lack of voiding  infection,
overflow incontinence and permanent voiding difficulties may follow  post-micturition USS can be used to
assess the residual volume non-invasively  treatment is catheterisation for at least 24hrs
• Urinary infection  occurs in 10% of women  usually asymptomatic, but often leads to symptomatic
infection or pyelonephritis  routine urine culture is advised
• Incontinence  occurs in 20% of women  overflow and infection should be excluded using postmicturition
USS or catherisation and mid-stream urine sample respectively  obstetric fistulae are very rare in developed
countries  symptoms of stress incontinence usually improve, particularly with formal pelvic floor exercises,
but these have little preventive role
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PERINEAL TRAUMA
• Perineal trauma is repaired after delivery of the placenta  pain can persist for >8 weeks in 10% of women 
superficial dyspareunia is common
• NSAIDs are best  USS, salt baths and Megapulse are of no benefit
• Paravaginal haematoma  rarely, a women experiences excruciating pain in the perineum a few hours after
delivery  this is almost always due to paravaginal haematoma, which is usually identifiable only on vaginal
examination  drained under anaesthetic
BOWEL PROBLEMS
• Constipation and haemorrhoids both occur in 20% of women  laxatives are helpful
• Incontinence of faeces or flatus  underreported symptom affecting 4% of women, mostly transiently 
both pudendal nerve and anal sphincter damage can be responsible  forceps delivery, large babies,
shoulder dystocia and persistent OP positions are the main risk factors  affected women are evaluated
using anal manometry and USS, and managed according to symptoms  forma repair may be required, after
which all pregnancies should be by C-section
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ETHICS & LEGAL ISSUES

Be able to demonstrate an understanding of the relevance to clinical practice of confidentiality and consent in
under 16 year olds (Fraser competence) and vulnerable adults
• When we are trying to decide whether a child is mature enough to make decision, people often about
whether a child is ‘Gillick competent’ or whether they meet the ‘Fraser guidelines’  both help to balance
children’s rights and wishes with our responsibility to keep children safe from harm.
• Gillick competency and Fraser guidelines refer to legal cases which looked specifically at whether doctors
should be able to give contraceptive advice or treatment to under 16 y/o without parental consent  they
are now more widely used to help assess whether a child has maturity to make their own decisions and to
understand the implications of those decisions
• The Fraser guidelines refer to the guidelines set out by Lord Fraser in his judgement of the Gillick case in the
House of Lords (1985), which apply specifically to contraceptive advice  they state that a doctor could
proceed to give advice & treatment provided he is satisfied in the following criteria
o That the girl will understand his advice  although under 16 y/o
o That he cannot persuade her to inform her parents or to allow him to inform the parents that she is
seeking contraceptive advice
o That she is very likely to continue having sexual intercourse with or without contraceptive treatment
o That unless she receives contraceptive advice or treatment her physical or mental health or both are
likely to suffer
o That her best interests require him to give her contraceptive advice, treatment or both without the
parental consent
• Gillick competency refers to comments made by Lord Scarman on the case and states that “…it is not enough
that she should understand the nature of the advice which is being given: she must also have a sufficient
maturity to understand what is involved”  he further comments that “parental right yields to the child’s
right to make his own decisions when he reaches a sufficient understanding and intelligence to be capable of
making up his own mind on the matter requiring decision
Be able to demonstrate an understanding of the principles and legal issues surrounding informed consent
• For consent to be valid, it must be voluntary and informed, and the person consenting must have the
capacity to make the decision.
• Consent involves
o Voluntary  the decision to either consent or not to consent to treatment must be made by the
person themselves, and must not be influenced by pressure from medical staff, friends or family
o Informed  the person must be given all of the information in terms of what the treatment
involves, including the benefits and risks, whether there are reasonable alternative treatments and
what will happen if treatment doesn’t go ahead
o Capacity  the person must be capable of giving consent, which means they understand the
information given to them, and they can use it to make an informed decision
Be able to demonstrate an understanding of the Abortion Act 2003

• In England, Wales & Scotland the Abortion Act 1967 now reads  subject to the provisions of this section, a
person shall not be guilty of an offence under the law relating to abortion when a pregnancy is terminated
by a registered medical practitioner if two registered medical practitioners are of the option, formed in good
faith:
o That the pregnancy has not exceeded its twenty-fourth week and that the continuance of the
pregnancy would involve risk, greater tha if the pregnancy was terminated, of injury to the physical
or mental health of the pregnant woman or any existing children of her family; or
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o That the termination of the pregnancy is necessary to prevent grave permanent injury to the
physical or mental health of the pregnant woman; or
o That the continuance of the pregnancy would involve risk to the life of the pregnant woman, greater
than if the pregnancy were terminated; or
o That there is substantial risk that is the child were born it would suffer from such physical or mental
abnormalities as to be seriously handicapped
• Abortion is not legal in Northern Ireland
Be able to demonstrate an understanding of the relative legal status of the fetus and mother
• A foetus is generally taken to mean an embryo from 8 weeks post-fertilisation to birth
• The foetus is recognised to have interests in English law, but it is not equivalent to a person
• As such when a persons interests conflict with those of the foetus it is reasonable to assume the interests of
the person will be upheld
• As it is not a person, it does not have a direct right to life and is not directly protected by the European
Convention on Human Rights
• Even if it were a person, the interests of the mother could still reasonably be taken to have precedence
Be able to demonstrate an understanding of the issues surrounding child protection

• There is no legal requirement in England to report a child’s welfare, but there are specific guidelines and
procedures in place for people who work with children
• The Department for Education is responsible for children protection in England  it sets out policy,
legislation and statutory guidance on how the children protection system should work
• At a local level, Local Safeguading Children Boards (LSCBs) co-ordinate and ensure the effectiveness of , work
to protect and promote the welfare of children  each local board are responsible for local child protection
policy, procedure and guidance and include:
o Local authorities
o Health bodies
o The police
o Other  voluntary & independent sectors
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BASIC SURGICAL SKILLS, SURGICAL PROCEDURES AND POSTOPERATIVE CARE

Be able to describe in detail the regional anatomy and histology relevant to obstetrics and gynaecology
Demonstrate an awareness of the principles of infection control

• Standard precautions represent the minimum infection prevention measures that apply to all patient care,
regardless of suspected or confirmed infection status of the patient, in any setting where healthcare is
delivered.
• These evidence-based practices are designed to both protect healthcare personnel and prevent the spread
of infections among patients
• Standard precautions include:
o Hand hygiene
o Use of personal protective equipment  gloves, gowns & facemasks
o Respiratory hygiene and cough etiquette
o Safe injection practices
o Safe handling of potentially contaminated equipment or surfaces in the patient environment
Demonstrate an awareness of the appropriate use of blood and blood products

• The appropriate use of blood and blood products means the transfusion of safe blood products only to treat
a condition leading to significant morbidity or mortality that cannot be prevented or managed effectively by
other means
• Transfusion carries the risk of adverse reactions and transfusion-transmissible infections  plasma can
transmit most of the infections present in whole blood and there are very few indications for its transfusion
• Blood donated by family/replacement donors carries a higher risk of transfusion-transmissible infections
than blood donated by voluntary non-remunerated donors. Paid blood donors generally have the highest
incidence and prevalence of transfusion-transmissible infections
• Blood should not be transfused unless it has been obtained from appropriately selected donors, has been
screened for transfusion-transmissible infections and tested for compatibility between the donor’s red cells
and the antibodies in the patient’s plasma, in accordance with national requirements
• The need for transfusion can often be avoided by:
o The prevention or early diagnosis and treatment of anaemia and conditions that cause anaemia
o The correction of anaemia and the replacement of depleted iron stores before planned surgery
o The use of simple alternatives to transfusion, such as intravenous replacement fluids
o Good anaesthetic and surgical managmemetn
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Introduction CP2 Learning Objectives Psychiatry
PSYCHIATRIC LEARNING OBJECTIVES

INTRODUCTION TO PSYCHIATRY
Understand the basic structure and delivery of psychiatric services in the UK
• Psychiatric services in the UK have broadly similar structures  the names of various teams will differ from
area to area
• Mental Health service in the UK has moved on from hospital based to largely community based
• Local mental health service is usually provided by secondary care mental health NHS trust  it is
commissioned to provide services by a small number of Clinical Commissioning Groups (CCGs) that have
replaced Primary Care Trusts (PCT)  the CCGs are made up of consortia of GPs
• Primary care contains people who have special responsibility for mental health provision in primary care
o GPs  including GPs with a special interest in Mental Health or Substance Misuse
o Advanced Nurse Practitioners (ANPs)
o Primary Care counsellors and therapists  who might work for Improving Access to Psychological
Therapies (IAPT)
MENTAL HEALTH SERVICES PERSONNEL

• Psychiatrist  a medical doctor with special training in mental illnesses and emotional problems
• Social Worker  have a qualification by the Health and Care Professions Council (HCPC)  as well as being
able to give emotional support and practical help with accessing money, housing and other entitlements,
some may provide psychological treatments
• Approved Mental Health Professionals (AMHPs)  can be any member of the mental health team  they will
usually be a social worker although they can be other allied health professionals  they have had further
training in assessing if someone needs to be admitted to the hospital using the Mental Health Act
• Community Psychiatric Nurse (CPN)  registered mental health nurses who work outside hospitals and visit
patients in their own homes, outpatient departments or GP surgeries  NB – inpatient nurses are generally
called Staff Nurses
• Occupational Therapist (OT)  help patients get back to doing practical everyday things  to assess what the
patient can or can’t do, give advice on appropriate accommodation, find meaningful activities, rebuild
confidence and promote independence
• Clinical Psychologist  have a degree in psychology and undertake a further 3 years training in order to work
with clients, give psychological therapies and help other members of the team work psychologically
• Healthcare Assistant  they will work usually under the supervision of nurses, but also doctors and other
healthcare workers  closely related to Clinical Support Workers (CSWs)
• Independent Mental Capacity Advocate (IMCA)  someone with specialist training who helps someone
lacking capacity make decisions around serious medical treatment or a change of accommodation  a legal
right for people over 16 who lack mental capacity and do not have an appropriate family member or friend to
represent their views
• Independent Mental Health Advocate (IMHA)  someone specially trained to support people to understand
their rights under the Mental Health Act and to help them participate in their care and treatment  a legal
right for anyone detained under Sections 2 or 3 of the Mental Health ACT, as well as some other parts of the
Act
• Care Co-ordinator (CCO) or Keyworker  a member of the team (usually a Nurse, OT or social worker) who
will fully assess the patient’s needs, write a care plan which shows how the NHS and other organisations will
meet those needs and regularly review the plan to check on progress
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THE CARE PROGRAMME APPROACH (CPA)
• The CPA is a way of writing a care plan for patients who are under secondary mental health services
• Commonly implemented when the patient is under the care of one of the following teams
o Community Mental Health Teams (CMHTs)
o Assertive Outreach Teams
o Early Intervention Teams
o Occasionally Crisis & Home Treatment Teams
• CPA guidance states it is for people for whom the following things apply  local teams will differ slightly in
how they make their decisions about who needs CPA
o Severe Mental Illness
o Significant problems in looking after themselves  significant risk of harm to self or others, not
wanting help or being particularly vulnerable
o Significant Intellectual Disability
o Those receiving services from a number of agencies  housing, physical care, criminal justice or
voluntary agencies
o Recent detention under the Mental Health Act
• The patient will get:
o A CCO or Keyworker who will look at
▪ Medication
▪ Therapy
▪ Help with money problems, advice & support, employment & training
▪ Help with housing difficulties
▪ Any voluntary sector support that might be useful
▪ Physical health, especially with respect to side effects from psychiatric medication
▪ Risk to the patient or others
▪ Problems with drugs or alcohol
o A written copy of the care plan, to be shared with the GP and if the patient agrees with carers and
relatives
o Regular reviews
o The assessments should take into consideration age, disability, gender, sexual orientation, race,
ethnicity and religious beliefs
• The CPA will regularly be assessed and will not stop just because of ‘stability’, if the stability is brought about
by the extra support of the CPA  there will need to be an assessment of needs and a risk assessment, as
well as a handover to another professional (usually GP or psychiatrist)  there will need to be a plan for
follow up and, if needed, how to get in contact if the patient’s health deteriorates
GENERAL ADULT PSYCHIATRY

• General adult psychiatry covers people between 17-65 years and sometimes >65 years with a chronic mental
illness
• Within general psychiatry, a wide range of disorders is treated  these include
o Manifestations of “organic” brain disorders  Huntingdon’s disease
o Psychoses  Schizophrenia
o Severe or difficult to treat depressive illness
o Personality disorders
• The wide range of disorders and problems encountered necessitates close working with other agencies  eg.
social services and the police
• They are based in both inpatient, outpatient & community
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OLD AGE PSYCHIATRY
• Old age psychiatry is usually over 65 years  some services may take cases of suspected dementia under 65
years
• Functional  major mental disorders – depression, anxiety and psychosis  both new referral or “graduate”
from general adult psychiatric teams
• Organic  dementia syndrome
• Memory assessment services are specialist teams that assess memory problems or similar cognitive
impairments  they advise on the support patients and their carers may need from their GP or older people’s
mental health services
• The complexity of interaction between physical, psychiatric and social problems experienced in old age
requires close collaboration between a range of agencies including
o Social services
o Nursing/Residential homes
o Court of Protection
• They are based in CMHTs for older adults, outpatients and inpatients
CHILD AND ADOLESCENT MENTAL HEALTH SERVICES (CAMHS)

• CAMHS is for children and adolescents up to 18 years
• It covers all types of mental disroders  including depression, anxiety and psychosis
• CAMHS also provides specialist treatment for
o ADHD
o Tourettes syndrome and tic disorder
o Autistic spectrum disorders
o Behavioural and neuropsychiatric aspects of neurological disorders  epilepsy, post head injury,
brain tumours, encephalitis, meningitis & childhood-onset psychosis
o Eating disorders
• All professionals working in CAMHS specialise in working with children & young people  the emphasis is on
multidisciplinary teamwork and parents/carers almost always involved with interagency work with schools
and social services
• GPs can make a referral to CAMHS  sometimes teachers, health visitors, school nurses and social workers
can also make referrals
• They are based in specialist CAMHS community teams or in inpatient units
INTELLECTUAL DISABILITY
• Specialist mental health who work with people with intellectual disability offer treatment for severe mental
illness, but also for a wide range of other mental health conditions  such as autistic spectrum diorders and
anxiety disorders
• The clinical work is often made more complex by concurrent physical problems  eg. epilepsy,
communication problems and challenges in accessing services
• People often present non-specifically and finding out the cause is a fascinating diagnostic challenge
• These specialist work with
o Families
o Social services
o GP
o Residential & nursing care homes
o Other mental health teams
o Hospital specialists
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• Most specialist mental healthcare for people with intellectual disabilities is delivered in a community setting
 because of the social supports available, the need for inpatient admission can be less than in mainstream
services
• If people do need admission  people with mild intellectual disabilities and mental illness often use
mainstream general adult inpatient bed
• Specialist inpatient facilities are provided for people with foreskin needs and people with very severe
challenging behaviour
SUBSTANCE MISUSE
• Substance misuse or addiction psychiatry works with individuals who have a range of additctions, as well as,
commonly, mental illness  particular skills are required to work with people in order to stop or limit thie
drug or alcohol use  this requires a good knowledge of physical health issues along with both psychological
and physical treatment approaches
• Works with patients across all major specialities  CAMHS, general adult and forensic teams
• They treat the mental health problems and consequences of illicit drug and excessive alcohol use
• They normal work with
o GP
o Mental health teams
o Courts & probation services
o Social & children services
• The Drug & Alcohol services are mainly community based, but there are also special units for inpatient
detoxification if this cant be safely done in the community
PSYCHOTHERAPY
• Psychotherapy/talking therapies involves providing treatment by psychological mean  in some therapies
understanding the relationship with the patient is a crucial part of the work
• Psychotherapry is provided in all major specialities  CAMHS, general adult, old age, intellectual disabilities,
substance misuse and foreskin psychiatry by respective specialist psychotherapy teams
• They treat people suffering from a wide range of psychological and emotional problems can be helped
• Psychodynamic therapy  based on psychoanalytic ways of understanding personal and emotional
development
• The way we see and related to the world develops through relationships made in infancy, childhood and later
life  isturbances in these relationships can produce continuing vulnerabilities, symptoms and relationship
problems in later life  symptoms have a meaning in the context of our lives, and difficulties in relationships
often follow patterns laid down in our earlier life
• The psychodynamic therapies are used mostly with difficulties arising from problems of living with oneself, or
in relation to others  people vary in their susceptibility to emotional distress, often through a combination
of temperament, family relationships in childhood and possible experiences of trauma, loss, neglect and
abuse  circumstances may then trigger psychiatric symptoms, or disturbed behaviour – including self-harm
• Cognitive behaviour therapy  has been developed from learning theory and is less concerned with the
development of personality, or with the natures of the relationship with the therapist
• CBT is a less intense, but supportive relationship is encouraged instead  the focus is often on the practical
effects of a problem, rather than its meaning and the reasons behind it  the aim is to treat difficulties by
problem-solving, finding better strategies for coping, and overcoming irrational fears  treatment is usually
on a weekly one-to-one basis, lasting for up to a few months
• Cognitive therapies extend these approaches and pay particular attention to recurring, self-defeating patterns
of thought, in conditions such as depression and anxiety, phobias, obsessions, compulsions or panic attacks
often find much relief in behavioural approaches that target the specific symptoms
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• They work with
o Families
o GP
o Social services
o Specialist mental health team
• Psychotherapy is largely in outpatient setting and it can be individual or group therapy  there is also
something called therapeutic community, which is useful for individuals with personality disorder  the
therapeutic community can be operated as day unit or residential unit
REHABILITATION PSYCHIATRY
• Rehabilitation psychiatry is a service to help recover from the difficulties of longer-term mental health
problems  the difficulties with living with a longer-term mental health problems can mean that the patients
can’t be discharged home, but you may have to spend some time in a specialist rehabilitation services
• It is part of the specialiaty of general adult psychiatry (18-65yrs)  the conditions they usually treat and
manage are those enduring severe mental illness
• Rehabilitation service usually works with patients whose functioning has been severely impacted by their
enduring severe mental illness, or they have an illness which is resistant to treatment  they aim to maximise
their potential despite the challenge of the disability brought by the illness
• They are based in inpatient and community rehabilitation units/team
FORENSIC PSYCHIATRY
• Forensic mental health services are for people with mental health problems who have been arrested, who are
on remand or who have been to court and found guilty of a crime  an important goal of forensic mental
health is to treat any mental health problems that may have contributed to a pattern of criminal behaviour,
and discharge a person back into the community with the right level of support when it is thought safe to do
so
• Forensic Mental Health services manage patients with a mental illness (including personality disorder) and
their mental illness poses a significant risk to others due to offending behaviour  risk management with
focus of managing risk to others is the key in forensic psychiatry
• They work with
o Criminal justice system
o Probation
o GP
o Other mental health team
o People who support patients – social care, family, support staff
• Community forensic mental health services can also care for people out in the community following discharge
from a secure unit or prison  these community services may also be asked to review patients who are
known to other mental health services, where there is a concern that someone may be at high risk of
committing a criminal offence
• Forensic mental health services in hospitals are often classified by how secure they are  this refers to
factors such as level of staffing, or the control placed on how freely patients can move around the hospital 
there are 3 levels of security
o High  at national specialist hospitals – Ashworth, Broadmoor & Rampton
o Medium  these are located in each region of the country
o Low  these provide rehabilitation before transfer to local services
COMMUNITY PSYCHIATRIC SERVICES
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• Community Mental Health Teams (CMHTs)  multidisciplinary, multi-agency teams offering specialist
assessment, treatment and care to adults with mental health problems, both in their own homes and in the
community  they work with people with compelx needs and aim to provide day-to-day support needed to
allow a person to live in the community
• Crisis Resolution and Home Treatment Team (CRHT)  teams of mental health professionals who treat
people with mental illness when they are very unwell or in mental health crisis or have tried to take their own
life  aims to avoid admission to a psychiatric ward by offering people intensive, community-based support
at home 24/7 and provide ongoing care and support after the crisis has passed  they assess people who are
in crisis and decide whether they can offer appropriate support or whether that individual needs to be
admitted to hospital
• Early Intervention for Psychosis Team (EIP)  specialist teams of mental health professionals who work with
people who are experiencing symptoms of psychosis for the first time  usually offer service to people
between 14-35yrs  intensive medium-term follow up (3yrs), then referral to other services  work closely
with primary care/CAMHS/CMHT  focus on the reduction of Duration of Untreated Psychosis (DUP)
• Assertive Outreach Team (AOT)  aims to help people who have a history of serious mental health problems,
poor engagement with mental health services and increased risks  provide more intensive contact with
patients aimed to enhance engagement  will visit people at home, at flexible times or at a location of an
individual’s choice and encourage them to accept support and treatment from mental health services again
• Liaison Psychiatry team  deals with medical & surgical inpatients with psychiatric presentations in general
hospital  receive referrals for ED/AMU/SAU and their role is to provide advice and consultation to relevant
medical/surgical teams in general hospital
• Perinatal Psychiatry team  support women who experience mental health problems around the time of
pregnancy  they have mother & baby units staffed by specialist perinatal mental health professionals and
other team members who can help care for newborn babies
• Eating Disorders team  help adults & children who have moderate to severe eating disorders 
multidisciplinary team based in the community offering services, such as assessment, treatment and
counselling for individuals and their families/carers
• Personality Disorders team  provides assessment and psychological treatment to patients with personality
difficulties  they are largely community based and sometimes run day programmes
Have a basic understanding of the importance of therapeutic engagement, including factors which may affect
engagement
Have an overview of the classification of psychiatric disorders and how these may present clinically
Understand the impact of stigma in mental illness
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Assessment CP2 Learning Objectives Psychiatry
PSYCHIATRIC ASSESSMENT
Obtain a relevant history from a patient and/or carer and present it verbally to a colleague using appropriate
terminology
BEFORE STARTING A HISTORY:
• Some demographic  eg. sex, age, occupation and ethnicity of the patient
• Mode of referral and the reason of referral  where are you seeing the patient and who made the referral
with what concerns
• If the patient is an inpatient  are they detained under the Mental Health Act
PRESENTING COMPLIANT
• Record patient’s main problem briefly in their own words
• Remember – sometimes patients with metnal health problems may not have any “complaint” as they do not
think they are unwell  if this is the case, just mention they do not have any complaint
HISTORY OF PRESENT ILLNESS  FOR EACH PROBLEM CLARIFY:
• When did problem start
• Any precipitating events
• How did it develop
• Any associated symptoms
• How the problem affects day to day functioning
• Has any help or treatment been sought for it and the response of these interventions
• Temporal relationship between symptoms and any physical disorder, psychological or social problems
PAST PSYCHIATRIC HISTORY
• Details of past problems  including psychiatric admissions and any treatments
• Any history of the mental health service or psychiatric treatment in primary care
• Include any past self-harm and suicide attempts
• Consider
o What interventions were helpful and which were not  benefits, side effects, doses and concordance
o If diagnosis is in doubt  record symptoms of previous episodes and how they have changed over
time  what led to episodes of illness
o Predisposing, precipitating and perpetuating factors as well as protective factors and positive coping
strategies
FAMILY HISTORY
• Include parents, siblings & other significant relatives
• Ask about age, health, employment, psychiatric history and relationship with patient
• A family tree may be helpful if it is complicated
MEDICAL HISTORY
• Include any major illness and any current treatments  including current medications and concordance
• Any known allergy
SUBSTANCE MISUSE & ALCOHOL HISTORY
• Consider tobacco, alcohol & illicit drugs
o Patterns of use
o Past and current use
o Effects  including withdrawal symptoms, dependence
o How substance use related to mental health difficulties
PERSONAL HISTORY
• Childhood  birth, developmental milestones, family atmosphere
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• School & educaton  primary & secondary schooling, relationship with teachers & peers, problems at school
(academic & behavioural), age when left school and any further training or courses
• Occupations  job taken, how long, why left, and for how long being unemployed
• Psychosexual & relationship history  past and current relationshop, marital history, any children (age and
contact), sexual orientation and difficulties if relevant
• Past history of emotional, sexual and physical abuse if appropriate
FORENSIC HISTORY
• Consider all offences whether convicted or not  especially any violence, sexual offences and persistent
offending
o Arrest or caution by police
o Under probation
o Prison sentence
PREMORBID PERSONALITY
• Focus of patient’s personality before they became unwell  including
o Attitudes to others in relationships o Reaction pattern to stress
o Attitudes to oneself  self-esteem o Religious and cultural issues
o Any predominant mood and stability o Individual’s strengths and abilities
o Leisure activities and interests
• It may be necessary to get information from other  needs to state that information is from patient and what
is from other people
• Personal history may also give some indication of the patient’s personality and its development
SOCIAL CIRCUMSTANCES
• Where the person is living
• Whom they are living with
• Whether there are any children in the house
• The financial situations  consider any debt and what benefits the person is receiving
• Patient’s support network  personal & professional  any carer identified and support for that carer
Perform a mental state examination and present it verbally to a colleague using appropriate terminology
• The MSE is a snapshot of a patient’s behavior and mental experiences at or around that point in time 
usually carried out after a psychiatric history  focuses on patient’s current state of mind
• Looks out for both signs & symptoms of mental disorders  may want to do a “functional enquiry” and check
generally on patient’s different mental functions e g. mood, abnormal experience or beliefs and cognition
APPEARANCE & BEHAVIOUR
• Appearance & behavior is often one of the most helpful elements of the MSE  making a careful assessment
of the general appearance can aid in diagnosis and influence in risk assessment
• The rule of thumb  if your consultant can visualize the patient without seeing them, you have done a good
description of their appearance
Appearance
Clothes Colourful and loud clothes may suggest mania
Dirty and crumpled clothes may suggest self-neglect
Weight Evidence of rapid weight loss increases the possibility of self-
neglect
Low weight may be an indiciation of anorexia
Obesity could be a side effect of medication
Facial appearance Depression  turned down corners of mouth, furrowed brow
Anxiety  creases on forehead and dilated pupils
Anger & irritability  characteristics
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Posture Depression  hunched posture
Anxiety  siting on edge of seat, restless
Behaviour
Movements Mania  overactive, agitated or restless
Schizophrenia  catatonic features
Abnormal movements  dystonia, tremor or tick
Social behavior Mania  over familiar
Schizophrenia  withdrawn or preoccupied
Rapport Schizophrenia/psychosis  suspicious and uncooperative
Eye contact Depression  poor eye contact
SPEECH
• When starting out in assessing a mental state, it is advisable to concentrate on the basics of a topic  eg.
speech
o Rate  fast or slow
o Quality  poverty of speech
o Volume
o Flow of speech  pressure of speech, cannot interrupt
o Spontaneity
MOOD & AFFECT
• Mood is the pervasive and sustained emotional state of the individual  there are two elements of mood
o Subjective mood  how does the patient describe their mood
o Objective mood  what is your impression of mood  elated/irritable, depressed, anxious or labile
• Sometime, depressive or anxiety symptoms including suicidal or self-harm thoughts may be included here as
well
• Affect is the observable behaviour associated with changing emotions such as fear, sadness or joy  pay
attention to the following
o Is the affect appropriate and reactive?
o Common terms to describe affect:
▪ Blunted or flattened affect  dulling of normal emotional response
▪ Labile affect  sudden rapid and often marked shifts of affect
▪ Inappropriate or incongruent affect  can be inappropriate to the thought content (laughing
at death) or inappropriate to the magnitude of an event (emotional outburst at everyday
event)
• Mood is the pervasive and sustained emotional state (longer term) whereas affect is the observable
behaviour associated with changing emotions  sometimes people describe mood as the climate and affect
as the weather
THOUGHTS
• Thought form is the train of thought  this is assessed through patient’s speech  some patients
(schizophrenia) may have formal thought disorder
• NB – if you do not quite understand what the patient is saying even when you pay extra attention, think about
possible formal thought disorder  sometimes can be very subtle
• Example of psychopathologies you may put in this heading:
o Flight of ideas
o Loosening of association/derailment
o Thought block
o Poverty of though
o Overvalued ideas
o Phobia (irrational fear)
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o Obsessions/ruminations
o Delusions
PERCEPTIONS
• Sensory distortion  includes distortions of intensity, colour, form and proportions
o Depersonalisation  an alteration in the perception or experience of the self, leading to a sense of
detachment from one’s mental process or body
o Derealisation  an alteration in the perception or experience of the environment, leading to a sense
that it is strange or unreal
• Illusion  misinterpretations of a real stimulus  it can happen in individuals without mental illness – eg. in
heightened emotion
• Hallucinations  perceptions in the absence of a stimulus  can occur in any sensory modality
• For auditory hallucination  they can be described as
o 2nd person (directly to individual “you”) or 3rd person (voices talking among themselves “he/she”
o Command hallucaintions
• Other hallucinations can happen in normal individuals
o Hypnopompic hallucination  visual or auditory hallucination upon awaking
o Hypnagogic hallucination  visual or auditory hallucination upon falling asleep
o Psudeohallucination
COGNITIVE EXAMINATION
• If you suspect a patient may have cognitive impairment  need to include the following items as minimum
o Orientation in time, place and person
o Attention and concentration  serial-7 test or backwards spelling
o Memory  immediate recall, delayed recall, long-term memory/knowledge
• If cognitive impairment is discovered  a more detailed cognitive examination is necessary
• Mini-mental state examination (MMSE)
o By Folstein
o Maximum score is 30
o Does not test any frontal lobe abnormaility
o Takes about 5-10minutes depending on patient
• Montreal Cognitive Asssessment (MOCA)
o A full version and a basic version  for illiterate or low education or <5yrs
o Maximum score is 30
o Covers most cognitive domains including executive (frontal)
INSIGHT
• In order to assess insight, you must answer the following 5 questions:
o Is the patient aware that there is anything wrong?
o If there is anything wrong, does the patient think it is due to an illness?
o If an illnesss, is it physical or mental illness?
o If it is a mental illness, can it be helped?
o Is the patient willing to accept help or treatment?  will the patient agree to a hospital admission?
• You should present the insight as if you are answering these 5 questions rather than saying it is
‘present/absent/partial”
Carry out a clinical risk assessment on a patient with a common psychiatric disorder
• Risk is the probability or threat of damage, injury, liability, loss, or any other negative consequences that is
caused by internal or external vulnerabilities, that may be reduced through pre-emptive action.
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• Risk changes over time, and is affected by other factors  such as the current mental state (dynamic)
• Assessment of risk is based upon a number of different features, individually and in combination with each
other  multifactorial
• Carrying out an assessment of risk is vital as part of any psychiatric interview  lots of questions can be
deeply personal and can be uncomfortable for both the interviewer and interviewee
RISK OF SELF-HARM AND SUICIDE

• Thoughts of harm to self
• Thoughts of death/dying/ending own life
• Hope of plans for the future
• Previous deliberate self-harm or attempts to end own life
o How many times
o Methods  cutting, overdoses, ligature
o Intention  what did you think would happen? Sleep, injury, death?
o Precipitants  was there something that triggered this? Was it planned?
o Location  were attempts made to avoid discovery? Did you contact help?
o Final acts  was a note left, or a will made?
o Feeling afterwards  were you glad you loved? Did you regret what happened?
• Particular clinical pictures associated with increased risk of deliberate self-harm or suicide
o Depression, bipolar affective disorder
o Schizophrenia  particularly in early stages of recovery from acute episode
o Emotionally unstable personality disorder
o Obsessive-compulsive disorder
RISK OF HARM TO OTHERS

• Thoughts of harming others
• Thoughts that other may cause harm
• History of harm to others  previous police involvement/charges/convictions  age at time of 1st violent act
• Access to weapons
• Particular clinical pictures associated with increased risk to others:
o Command hallucinations, passivity phenomena
o Delusional jealousy
o Dissocial personality disorder
o Frontal lobe damage
o Substance misuse
RISK OF SELF-NEGLECT
• Interest in self-care
• Appetite, oral/fluid intake
• Social support
• Particular clinical pictures associated with increased risk of self-neglect
o Schizophrenia  particularly negative symptoms
o Severe depression with psychotic symptoms  related to nihilistic delusions
o Diogenes syndrome  picture of self-neglect, social isolation, hoarding
o Substance misuse
o Obsessive compulsive disorder  where rituals prevent self-care
RISK OF ABUSE, HARASSMENT OR EXPLOITATION BY OTHERS
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• Particular clinical pictures associated with increased risk of vulnerability to others
o Learning disability
o Dementia
o Substance misuse
OTHER AREAS
• Risk to children or other vulnerable people
• Risk to property and driving
• Risk of further deterioration in mental and/or physical health
Recognise the psychopathology of common psychiatric disorders
List possible differential diagnoses for patients with psychiatric symptoms
Justify the selection of appropriate investigations for common psychiatric presentations
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546
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Legislation CP2 Learning Objectives Psychiatry
MENTAL HEALTH LEGISLATIONS

Knowledge of the ethical and legal principles of mental health legislations in clinical practice, including the Mental
Health Act and the Mental Capacity Act
SECTION 2
Type of Order  Assessment
How long it lasts  Up to 28 days
Staff required  2 Doctors & an AMHP
• It is used when there is no clear psychiatric diagnosis at the given time  it allows a patient to be held and
treated against their will for up to 28 days
• After 28 days, a decision needs to be made as to whether a Section 3 order needs to be implemented or
whether the patient needs to be treated informally
• Two Section 2s cannot be ordered back-to-back
SECTION 3
Type of Order  Treatment
How long it lasts  Up to 6 months
Staff required  2 Doctors and an AMHP
• It is used when there is a definitive psychiatric diagnosis or prognosis  it allows a patient to be held and
treated against their will for up to 6 months
• If the section is renewed it lasts for a further 6 months, and any further renewal from then on lasts 1 year
SECTION 4
Type of Order  Emergency
How long it lasts  Up to 72 hours
Staff required  1 Doctor and an AMHP
SECTION 5(2)
Staff required  1 Doctor
• Section 5(2) is a doctor’s “Holding Power”  it can be used for patients who fall into the following categories
o If the patient is an inpatient with a mental illness
o If the patient is at risk
o If informal admission is no longer appropriate  eg. if the patient wants to leave
o If the patient needs an assessment for Section 2 or 3
• The patient can be held for a Mental Health Act assessment, but cannot be given treatment
• The patient cannot
o Do another 5(2) back-to-back
o Let it lapse
o Use in A&E or Outpatients
o Have leave
o Get into trouble for doing it in good faith
• In a General Hospital it is done by the physicians/surgeons  it is good practice to get the most senior
member of the team present in the hospital to sign the form  only a fully registered medical practitioner
can sign the form so a F1 or F2 cannot do it
• If the physician does not report the patient under Section 5(2), then the psychiatrist should see the patient as
soon as possible
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SECTION 5(4)
Staff required  1 Registered Mental Health Nurse
SECTION 135
Type of Order  Power of entry & removal to Place of Safety
Staff required  Magistrate
SECTION 136
Type of Order  Place of Safety
Staff required  Police Officer
• It is an order which gives the police power to remove a person who they consider to have a mental disorder
to a “Place of Safety”  this is a place which is locally agreed upon and is usually a special 136 suite, but can
include either a Police station or A&E
• Once the person has been taken to a “Place of Safety” under Section 136  they can be assessed and a
Section 2 or 3 order can be implemented
COMMUNITY TREATMENT ORDERS

• A person may be treated under the MHA and still live in the community on what is known as a CTO
• This particular order only relates to the patient’s psychiatric care, and if the said person was to seek
healthcare services, that person’s healthcare should be given as normal and their psychiatric condition does
not necessarily need discussion  all treatment should be consensually given according to the MCA
• However, if the circumstances to which a person is required to seek medical advice is in direct consequence
of their mental illness, then psychiatric care must be given
Knowledge of the ethical and legal principles of mental health legislations in clinical practice, including the Mental
Capacity Act
• The Mental Capacity Act 2005 was implemented in 2007 and is statute law  the Act assumes that all adults
have capacity unless proven otherwise, so it does not apply to those with capacity
• All practicable steps need to be taken to help the person to have capacity before a person is deemed to not
have capacity
• If a person makes an unwise decision, that does not necessarily mean he/she lack capacity
• An act done or decision made under the MCA needs to be in the person’s best interests and needs to be least
restrictive of the person’s rights
ASSESSING CAPACITY
• If you suspect a patient does not have capacity, you will need to assess him/her in order to ascertain if he/she
has capacity or not  there are two stages when assessing capacity – if both stages are not met, then the
person does not have capacity on that specific decision
• STAGE 1  a person lacks capacity if he/she is unable to make a specific decision due to a disturbance in the
functioning of the mind or brain  there needs to be evidence that the person has a disturbance of their
mind or brain, which is affecting the functioning of their mind or brain  this may be temporary or
permanent disturbance due to physical or psychological
• STAGE 2  there are 4 components to the process of capacity
o Understand  understand the information relevant to the decision
o Retain  retain that information for long enough to make the decision
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o Deliberate  deliberate that information as part of the process of making the decision
o Communicate  communicate the decision
• As capacity is time and decision specific  having a particular diagnosis does not immediately mean a person
lacks all capacity  therefore, the diagnosis or cognitive testing (including a MMSE) may well not be relevant
to decisions of capacity
• The MCA stipulates that we must consider
o Is the person likely to regain capacity & when?
o Maximise the person’s participation in process
o Past and present wishes of person
o Their beliefs, value and other factors
o View of carer and other nominated or appointed persons
• A patient who lacks capacity can be restrained using the MCA to protect the individual in question from harm
 restraint needs to be proportionate to the situation
LASTING POWER OF ATTORNEY

• LPA is a legal mechanism that allows someone to specify another adult to look after their affairs financial
and/or medical should they lack capacity in the future  this is done by going to a solicitor and making
certain declarations
• If someone is the done of an LPA they act and make decisions as if they were the person themselves, but only
if the person lacks capacity at the time
• As a doctor you are not speaking to relatives to get their consent, you are seeking to find out the views of the
patient so that you can decide how to act in the best interests of the patient unless someone has LPA for that
patient
ADVANCE DIRECTIVES/DECISIONS
• Advance decisions are made by a patient when he/she has capacity, come into effect when the patient no
longer has capacity and are able to state what treatment a patient wants to refuse in a specific situation
• If the treatment being refused would be life-saving the advance directive needs to be in written form, signed
by the patient and witnessed  it also needs to say that the person realises refusal of this treatment may
result in his/her death
• If in doubt keep the patient alive and seek legal advice immediately via NHS solicitors having first discussed
with senior colleagues
DEPRIVATION OF LIBERTY SAFEGUARDS (DOLS)

• DoLs created by the MCA and apply to people being deprived of their liberty in hospital or care homes when
the person lacks capacity in this matter
• When relevant, an application needs to be made to a supervisory body for authorisation
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Pyschopathology CP2 Learning Objectives Psychiatry
PSYCHOPATHOLOGY
Understand the process by which psychiatrists distinguish psychopathology from 'normal' experience
• Psychopathology  the systemic study of abnormal experiences, cognition & behaviour  thought of as
either being explanatory or descriptive
• Psychiatric disorders may be considered pathological for several reasons:
o Nature  its nature is so far removed from everyday experience that it is ‘surely’ pathological
o Degree  its degree is such that usual experiences; such as low mood, anxiety or bereavement, are
more keenly felt that the majority of the population would experience  the end of a bell-shaped
curve of ‘normality’
o Social pressure  society is unable to tolerate the degree of distress that some people cause to those
around them  many people given the label of dissocial personality disorder would not complain of
subjective distress, but their…might results in a diagnosis:
▪ Disregard for social norms
▪ Low threshold for discharging violence
▪ Resulting conflict with society
o Loss of function  for many psychiatric diagnoses it is required to demonstrate impairment in
performance in some way, whether that be occupational, social interaction or personal relationships
o Pervasiveness  all of us experience periods of low mood that, in terms of degree, would qualify for a
diagnosis of a depressive episode  if this low mood was only experienced fleetingly (for hrs or days),
such a diagnosis would not be made
• Phenomenology  observation and categorization of abnormal psychic events, the internal experience of the
patient and consequent behaviour
Recognise the tension between 'subjective' and 'objective' assessments of psychopathology

SUBJECTIVE & OBJECTIVE
• Subjective  a patient’s view of their own mood  eg. Awful, depressed, low, up&down  should generally
be recorded as a vertbatim quote of their subjective mood state as reported by them
• Objective  our assessment of a patient’s mood  eg. Euthymic (normal) or depressed
• Objective evidence of depression might be:
o Characteristic facial changes that we could all recognise as exhibiting ‘sadness’ or hopelessness
o Less animation in terms of speech or movement that we would expect  if significant it might be
called psychomotor retardation
o A lessened emotional response to a particular event or situation  might say that have ‘reduced
affect’
FORM VS CONTENT
• Form  the structure or type of the phenomenon  most important diagnostically
• Content  may have a meaning for the patient in the context of their past life  less important diagnostically
Appreciate how lay understandings of psychological distress may differ from a medical understanding and how these
might relate to the patient's socio-cultural background
NERVOUS BREAKDOWN
• In the family history  patients will often describe a family member as having had a ‘nervous breakdown’
• This could be any of a number of ICD-10 diagnoses and asking questions about the triggers to the
‘breakdown’, what their family member experienced, how they were treated and where they were cared for
is often helpful
STRESS
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• Used to describe a wide variety of experience  it may relate to a period of decreased functioning at work
• We would expect many significantly stressful events to cause some impairment to anyone and without the
context for the ‘stress’, we cannot say if it is pathological or not
SPIRITS – THE SUPERNATURAL

• Church groups in this country and around the world have spiritual explanation for their experiences
• There are clearly several psychiatric symptoms  passivity phenomena or command hallucinations, for
example - that, if they had particular religious content, would not be understood as a psychiatric symptom by
believers.
• There are many other beliefs in ghosts, fate and other superstitions that are seen in psychiatric practice.
Give definitions of key terms, such as 'delusion', 'hallucination' or 'obsession'

• Delusion  a fixed, (usually) false, unshakeable belief which is out of keeping with the patient’s educational,
cultural and social background and held despite all evidence to the contrary  it is how the belief is derived
from makes it “delusional”
o Persecutory delusion  a delusion belief that one’s life is being interfered with in a harmful way
o Delusion of reference  a delusional belief that external events or situations have been arranged so
that a message is conveyed to the individual or there is some other special significance
o Grandiose delusions  a delusion belief that the patient has special powers  this might occur in any
psychotic illness, but would be characteristic of mania, where the delusion could be described as
‘mood congruent’
▪ Extreme wealth
▪ Exceptional intelligence
▪ Powers  eg. superhero
• Hallucinations  an internal percept without a corresponding object, perceived in external space and outside
of conscious control
• Obsession  an idea, impulse or image, recognised by the patient as their own, but experienced as repetitive,
distressing or intrusive
• Grandiosity  an inflated sense of one’s own abilities or importance
• Compulsion  a behaviour or action that is purposeless or unnecessary, that the patient feels a subjective
urge to perform  the drive to perform the behaviour or action is recognised as originating in the patient
• Depersonalisation  an unpleasant subjective report that the patient feels they are ‘unreal’
• Derealisation  an unpleasant subjective report that the patient feels the world has become ‘unreal’
• Illusion  a false perception  the perception of a real object is combined with internal imagery to produce
a false internal percept
• Nihilistic delusion  a belief that the patient has died or no longer exists or that the world has ended
• Overvalued ideas  ideas that the understandable and reasonable in themselves come to dominate the
patient’s life
TYPES OF HALLUCINATIONS
• Auditory  characteristic of schizophrenia, but occur in many other conditions
o 3rd person  more than one voice is discussing the patient in the 3rd person
o 2nd person  address the patient direction
• The more simple the auditory hallucination the more life the cause is to be organic  some elementary
auditory hallucinations are just sounds like rattling, whistling or machinery
• round 4% of the population hear voices
• Visual  more common in organic states, such as drug withdrawal, dementia, encephalitis, occipital lobe
tumour  less common in schizophrenia
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• Visual hallucinations of delirium tremens are often Lilliputian  that is, of little animals or men
• Tactile  where hallucinations occur in schizophrenia there is often a delusional elaboration for the
phenomenon, relating to a delusion of control from an outside agent (eg. somatic passivity)
o Superficial  heat, light touch, tingling
o Kinaesthetic  joint or muscle position sense – the limbs feel they are being twisted or squeezed
o Visceral  false perception of inner organs
• Olfactory/Gustatory  very difficult to tell apart  appear in epilepsy and some other organic states, more
rare in schizophrenia  in epilepsy often has temporal lobe focus and may occur during the aura
• Pseudohallucinations  often auditory and experienced in EUPD  they tend to be pejorative, in 2nd person
(“you’re worthless”) and may be related to past abuse  sometimes explained as being an internalisation of a
past aggressor/abuser
RARE DELUSIONAL SYNDROMES

• De Clerambault’s syndrome  A delusion where the patient believes another individual is in love with them
and they are destined to be together; aka 'erotomania'
• Cotard syndrome  Psychotic depressive presentation with nihilistic delusions (the patient has died or no
longer exists or the world has ended and no longer exists) and hypochondriacal delusions (especially that their
organs do not work, they are 'hollow')
• Capgras syndrome  A delusional misidentification syndrome where a person well-known to the patient is
replaced by an identical 'double' who is not the 'real person'
• Fregoli syndrome  A delusional misidentification syndrome where the patient believes that strangers have
been replaced by (usually) one familiar person who changes appearance or takes on disguises
Have an overview of the classification of psychiatric disorders and how these may present clinically
SCHIZOPHRENIA SYNDROMES
• Negative symptoms • Positive symptoms
o Apathy o Hallucinations
o Anhedonia o Formal Thought Disorder
o Blunting of affect o Delusion
o Lack of volition
• Motor/catatonic symptoms
o Mutism
o Posturing  voluntary assumption and maintenance of inappropriate or bizarre posture
o Negativism  motiveless resistance to movement/movement in the opposite direction
o Waxy flexibility  patient’s limbs can be moved to any posture, which will then be held for a
prolonged period of time
• First rank symptoms
o Auditory hallucinations
▪ Voices heard arguing about or discussing the patient  3rd person
▪ Running commentary on patient’s actions
▪ Thought echo  voices repeat patient’s thought
o Delusions of thought ownership
▪ Thought broadcast  believe own thought can be transmitted to others
▪ Thought insertion  external thought not from patient being put into patient’s mind
▪ Thought withdrawal  patient’s thought being taken away by some external agency
o Passivity/delusions of control
▪ Somatic passivity  delusion of control with somatic hallucination
▪ Made ‘volition’  acts
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▪ Made ‘affect’  feelings
▪ Made ‘impulse’  drives
o Primary delusion  delusional perception
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Psychosis CP2 Learning Objectives Psychiatry
PSYCHOSIS
Knowledge of the epidemiology, aetiology and prognosis of psychosis & schizophrenia
EPIDEMIOLOGY
• Lifetime risk is roughly 1 in 100
• Male and female are equal
• Very rare below age 14  rare 16-18
• Peak incidence
o 23yrs male
o 26yrs female  2nd peak between 30-40
• Seen more commonly in urban environments compared to
rural settings
• More common in lower social class
AETIOLOGY
• The aetiology of schizophrenia is likely to be multifactorial 
bio-psycho-social
• Biological
o Genetic  family history with possible multiple genes
o Obstetric complication  increased risk
o Dopamine theory  how anti-psychotic medication works
o Neurodevelopmental theyr
o Some research suggests that the risk of schizophrenia increases:
Factor Risk of Schizophrenia (%)

Identical twin 46
Both parents 40
One sibling/fraternal twin 15
One parent 15
One grandparent 6
No relatives 1
• Psychological
o Cognitive errors  jumping to conclusions – especially in delusions and paranoia
o Premorbid personality  schizotypal disorder
• Social
o Urban living  x2-3 more likely
o Migration  x3
o Life events  including physical and sexual abuse
o Ethinicity  x4 in Afro-Caribbeans in the UK  higher incidence also in South Asians
PROGNOSIS
• Prodrome  refers to the period of time when the individual is gradually developing symptoms, but has not
yet met the criteria for diagnosis  the longer the duration of untreated psychosis (DUP) – the worst the
outcome, with average of >1yr
• Common developing symptoms
o Non-specific negative symptoms
o Emotion distress/agitation without reason
o Transient psychotic symptoms
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• Outcomes in schizophrenia
o 20% after first episode never have another episode
o 30% continuous illness, not free of symptoms
o 25% improved, but require extensive support network
o Increased risk of premature death due to suicide (10-15%), CVD and T2DM
Knowledge of clinical presentation, including an understanding of the ICD- 10 diagnostic criteria, of psychosis
• Psychosis is defined as a state in which there is a loss of contact with reality  includes:
o Delusions
o Hallucinations
o Formal thought disorder
• Hallucinations  a percept without object - eg. a sensory experience without an external stimulus  can be
any sensory modality (auditory, visual, tactile, olfactory or gustatory) and experienced in external space
• Delusion is a pathological belief:
o Absolute subjective certainty and cannot be rationalized away
o No external proof  held even with contradictory evidence
o Personal significance
o Cannot be understood as part of the subjects cultural or religious background
• Formal thought disorder  a pattern of disordered language use that reflects disordered thought form  can
sometimes be difficult to describe – eg. loosening of association (derailment), flight of ideas, circumstantial
thoughts, tangential thoughts, though block
• NB – if you struggle to understand what the patient is saying, consider formal thought disorder
AUDITORY HALLUCINATIONS
• Auditory hallucinations are the most common form of hallucinations within schizophrenia and psychosis
• Voices can be male or female  may or may not be recognisable to the individual  while most are often
negative and derogatory, some people experience positive voices
• Experience of voices can be disruptive & frightening and are often considered pathological
• Estimated that between 2-28% of the population experience hearing voices
NEGATIVE SYMPTOMS OF SCHIZOPHRENIA • Avolition

• Poverty of speech • Reduced attention
• Social withdrawal
POSITIVE SYMPTOMS OF SCHIZOPHRENIA
• Blunted affect
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• Thought disorder • Delusions
• Hallucinations • Disorganised behaviour
SCHNIEDER’S FIRST RANK SYMPTOMS

• Auditory hallucinations
• Broadcasting of thought
• Controlled thought  delusions of control
• Delusional perception
ICD-10 SCHIZOPHRENIA
• One or more of the following
o Thought echo, insertion, withdrawal or broadcast
o Delsions of control or passivity
o Hallucinatory voices giving a running commentary discussing the patient amongst themselves
o Bizarre delusions
• OR – Two or more of the following
o Hallucinations that either occur every day for weeks or that are associated with fleeting delusions or
sustained overvalued ideas
o Thought disorganisation  loosening of association, incoherence or neologism
o Catatonic symptoms
o Negative symptoms
o Change in personal behaviour  loss of interest, aimlessness or social withdrawal
Knowledge of physical conditions that present with psychiatric symptoms, including appropriate investigations for
psychosis
Knowledge of the common co-morbidity of psychosis
Knowledge of the physical, psychiatric and social consequences of psychosis, including stigma
Knowledge of the indications, mechanism of action and side effects of antipsychotics

INDICATIONS
• Anti-psychotics are effective treatment for a wide range of conditions  including
o Psychosis
o Mood disorders
o Anxiety disorders
o Insomnia
o Rapid tranquillisation
o Nausea & vomiting
o Hiccups
o Tics including in Tourette’s syndrome
MECHANISM OF ACTION
• The mode of action of anti-psychotics is through post-synaptic competitive receptor antagonism
• There are 3 dopaminergic pathway
o Tuberoinfundibular
o Mesocortical/mesolimbic
o Nigrostriatal pathways
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• The mode of action of anti-psychotics is through anatagonism of the mesocortical/mesolimbic pathwyas 
however, antagonism of the tuberoinfundibular and nigrostriatal pathways is responsible for some of the
more common side effects
• Blockade of the tuberoinfundibular pathway can result in hyperprolactinaemia and the nigrostriatal pathway
can result in extrapyramidal side effects
TREATMENT AIMS
• There are 3 main treatment aims for the use of anti-psychotics in psychosis
o Alleviate postivie symptoms of psychosis
o Alleviate negative symptoms of psychosis
o Minimise side effects  including metabolic disturbances
• One of the challenges in psychiatry is to achieve these aims with an individual patient  often made more
difficult as the individual may have limited insight into their condition
• Antipsychotics are effective (less so in alleviating negative symptoms)  however, the side-effects can be
troublesome and can lead to non-concordance with treatment and subsequent relapse
• In order to effectively monitor for side effects of anti-psychotics it is advisable to check the following
investigations prior to initiating treatment
o ECG o FBC o Prolactin
o Weight & height o U&E o Glucose/HbA1c
o BP o LFT o Fasting lipids
TYPICAL ANTI-PSYCHOTICS
• Typicals were initially developed in 1950s and were the 1st generation of anti-psychotics and first effective
treatment for schizophrenia
• Typical anti-psychotics include
o Chlorpromazine o Pipothiazine
o Fluphenazine o Sulpiride
o Flupentixol o Trifluoperazine
o Haloperidol o Zuclopenthixol
• Mode of anti-psychotic action  dopamine receptor 2 (D2) antagonism
• Side effects
o Neurological o Hypersensitivity reactions
▪ Neuroleptic malignant ▪ Liver
syndrome ▪ Bone marrow
▪ Seizure threshold lowered  ▪ Skin
fits o Psychiatric
▪ Sedation ▪ Apathy
▪ Extrapyramidal side effects ▪ Confusion
o Autonomic ▪ Depression
▪ Blood pressure o Peripheral autonomic nervous system
▪ Temperature ▪ Muscarinic receptor blockade
o Endocrine  raised prolactin ▪ Alpha-1-adrenoreceptor
o Cardiac  arrhythmia blockade
• Extrapyramidal side effects (EPSE)  the most widely reported side effects of typicals
o Akathisia  subjective feelings of restlessness, often associated with objective signs  pacing,
rocking, repeatedly crossing legs
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o Parkinsonism  anti-psychotic and idiopathic parkinsonism are clinically identical (tremor, rigidity
and bradykinesia)  usually develops after several days to weeks
o Acute dystonia  involuntary muscle spasms which produce briefly sustained abnormal postures 
usually occurs within 48hrs of initiation
o Tardive dyskinesia  abnormal involuntary hyperkinetic movements  TD is potentially irreversible
 abnormal movements include
▪ Abnormal tongue movements  fly catching sign, bon-bon sign
▪ Pouting/smacking of lips
▪ Chewing
▪ Head nodding
▪ Grimacing
▪ Rocking movements
• Most anti-psychotics increase the risk of developing a metabolic syndrome  the aetiology is not clearly
understood, but it is known that some anti-psychotics are more likely to increase risk  the features of a
metabolic syndrome are
o Central obesity
o Insulin resistance
o Impaired glucose regulation
o Hypertension
o Raised plasma triglycerides
o Raised LDL cholesterol level and/or low HDL cholesterol levels
• Neuroleptic Malignant Syndrome (NMS)  idiosyncractic reaction with an incidence of 0.07-0.2% per year
and a mortality of 5-20%  most frequently occurs when initiating treatment, but can occur at any time 
should be treated as a medical emergency, all anti-psychotics should be stopped immediately  the
symptoms of NMS are
o Hyperthermia
o Muscle rigidity
o Confusion
o Tachycardia
o Hyper/hypotension
o Tremor
o Raised CK
o Low pH  metabolic acidosis
ATYPICAL ANTI-PSYCHOTICS
• Atypicals are the 2nd generation of anti-psychotics to have been developed  they have a different side effect
profile, however are no more effective than the typical
• Atypical anti-psychotics are currently more frequently prescribed
• There are a number of atypicals to choose from
o Aripiprazole o Quetiapine
o Amisulpride o Risperidone
o Olanzapine o Clozapine
• Mode of action  D2 antagonism +/- 5HT receptor antagonism
• Aripiprazole  long half-life and dose 5-30mg  MoA is partial dopamine agonist  side effects
o Nausea o May initial exacerbate psychosis
o Restlessness o Least weight gain
o Insomnia o Minimal metabolic effect
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• Olanzapine  in addition to treating psychosis, it can also be used to rapid IM tranquilisation  usual oral
dose 5-20mg  side effects
o Sedation +++ o Proglycaemic
o Weight gain ++++ o Dizziness
o Raised triglycerides o Anti-cholinergic side effects
• Quetiapine  requires titration and in addition to psychosis it has also been shown to be effective in bipolar
depression  usual dose 300-600mg in two divided doses  side effects
o Sedation ++
o Weight gain ++
o Less metabolic disturbance than olanzapine
o Possible QT prolongation
• Risperidone  usual dose 4-6mg and depot preparation  side effects
o Sedation + o Sexual dysfunction ++
o Weight gain ++ o EPSE ++
• Clozapine  first introduced in 1966 and indicated in treatment of resistant schizophrenia  improved
efficacy over other anti-psychotics and positive effect on symptomatology and suicide risk  MoA – D4
blockade in addition to other sites  initiation requires careful dose titration, usually in hospital  side
effects
o Myocarditis/Cardiomyopathy o Raised triglycerides
o Orthostatic hypotension o Proglycaemic
o Agranulocytosis o Hypersalivation
o Sedation ++++ o Reduced seizure threshold
o Weight gain ++++
DEPOT ANTI-PSYCHOTICS
• There are situations when an intramuscular form of an anti-psychotic is preferred to oral preparations  this
is most frequently due to non-concordance with treatment, but may also be due to patient choice  they are
usually given between weekly to monthly
o Typicals o Atypicals
▪ Haloperidol ▪ Risperidone
▪ Flupentixol ▪ Olanzapine
▪ Zuclopenthixol ▪ Aripiprazole
▪ Fluphenazine
CONSIDERATIONS
• Factors to consider
o Personal or family history of T2DM
o Personal or family history of metabolic syndrome
o Current obesity
o Concerns about weight gain
o Potential impact of sedation
• General guidelines
o Use lowest effective dose
o Start low and go slow
o Prescribe one anti-psychotic at a time
o Monitor for side effects
o Assess concordance before making any changes
• Longer-term efficacy
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o
60-70% with chronic symptoms will relapse within 1yr of stopping medication vs 10-30% who
continue on treatment
o Continue medication for at least 1-2yrs following recovery from an acute episode
o Do not stop medication abruptly
• Woman of childbearing age
o Remember women will often not realise they are pregnant until several weeks after conception
o Advice should be given about contraception, preferably LARCs
o Evidence base continues to change, current evidence favours typicals in pregnancy
o If uncertain seek advice
Knowledge of the indications for psychological interventions in psychosis

• There are many psychological treatments that can be used in combination with drug therapy  until recently
psychotic disorders were thought to be unresponsive to psychological interventions
• Cognitive behavioural therapy  effective at reducing symptoms and helping patients with poor insight to
come to terms with their illness  this helps increase compliance with medication  
• Family psychological interventions  focus on alliance building, reduction of expressions of hostility and
criticism, setting of appropriate expectations and limits, and effecting change in relatives’ behaviour and
belief systems  this has been shown to reduce relapse and admission rates  
• Support, advice, reassurance and education to both patients and carers cannot be over emphasised  
• Social-skills training can help increase competence and help with adaptive functioning in the community
• Psychodynamic psychotherapy is not generally used with schizophrenia
Knowledge of the indications and practical implementation of social interventions in psychosis

• Other issues, besides drugs and psychological treatments, need to be addressed to enable rehabilitation into
the community  this includes finance, occupation, accommodation, daytime activities, social support and
support for carers
• All patients with schizophrenia should be assessed for the care- programme approach (CPA) to maximise the
coordination in delivery of services
• Community psychiatric nurses (CPNs), psychiatrists, OTs, psychologists or social workers can be appointed as
care coordinators and their primary role is to coordinate the multifaceted aspects of patients’ care and to
monitor mental state and compliance with medication
Recognise the common psychopathology of psychosis in a clinical interview

EXAMPLE OF MENTAL STATE EXAMINATION IN PSYCHOSIS
• Appearance and behaviour:
o Casually dressed Caucasian young man. Some eye contact and rapport. Observed responding to
unseen stimuli. Cooperative during the consultation. No psychomotor agitation or retardation.
• Speech:
o normal in rate, rhythm and volume
• Mood:
o Subjectively low because of the experience. Objectively looked slightly depressed with a flattened
affect
• Thoughts:
o Form: No formal thought disorder
o Content: Paranoid ideation to delusional intensity (being tracked, poison in his food). First rank
symptom - thought insertion ("Coronation Street"). Denied thought broadcasting or thought
withdrawal.
• Perceptions:
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o Third person auditory hallucinations - 3 voices of his housemates: talk about the patient with running
commentary ("left the house") also talk to each other (i.e. 3rd person)
o Possible somatic hallucination - feel a chip in my head, with secondary delusion of tracking device
from this chip
• Cognition:
o Reduced concentration but not objectively tested
• Insight:
o Insistent that he is not ill. No/limited insight.
Give a list of relevant differential diagnoses in patients with psychotic symptoms

ORGANIC CAUSES
• Delirium  another syndrome and there are many causes of delirium – eg sepsis
• Medication-induced  corticosteroids, stimulants, dopamine agonists
• Endocrine disorders  Cushings, hypothyroidism, hyperthyroidism
• Neurological disorder  temporal lobe epilepsy, multiple sclerosis, movement disorders, Wilson’s disease,
Huntingdon’s disease
• Other systemic diseases  porphyria or SLE
SCHIZOPHRENIA
• Symptoms present for longer than 28 days  some classification system needs longer duration
• No “organic” cause
• First rank symptoms present or persistent hallucinations and delusions
• May also have negative and cognitive symptoms
• NB – some mental health professionals are reluctant to give the label; of schizophrenia in view of the negative
labelling effect and stigma attached to the diagnosis of schizophrenia
OTHER DISORDERS
• Schizoaffective disorder  a mixture of first rank symptoms and mood symptoms
• Delusional disorder  the main symptom is non-first rank delusional belief with minimal hallucinations
• Schizotypal disorder
• Acute & transient psychotic disorder  symptoms less than 28 days
• Mood disorder  mania or severe depression
• Substance misuse  alcohol withdrawal, intoxication with stimulants or cannabis
Carry out a clinical risk assessment on a patient with psychosis

EXAMPLE OF RISK ASSESSMENT IN PYSCHOSIS
• Risks to self  inadequate nutritional intake. Some thoughts of taking overdose but there is no plan or
attempt.
• Risks to others  believes housemates are involved in the conspiracy. Has kept a baseball bat and a knife but
no plan to act on those thoughts. Protective factors - Chooses to withdraw rather than attack
• Risk to health  limited insight and likely to deteriorate if not willing to accept treatment; reduced intake may
also impact on his physical health
• Risk to property  not identified
• Risk to children  not identified
Develop a structured targeted management plan for an individual patient with psychosis
• If individual presents with psychotic symptoms  it is expected that you need to do the following to manage
the situation
o To establish a diagnosis
▪ History & MSE
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▪ Investigation  physical and psychosocial
o To manage the condition
▪ Where to manage?  likely to depend on level of risk
▪ Who to manage?  eg. Which service
▪ Bio-psycho-social management
▪ Support for carer
▪ Follow up
INVESTIGATIONS
• Aim of physical investigation
o To establish any organic cause
o To prepare for treatment with anti-psychotic medications
• Physical examination  neurological & BMI
• Blood tests  FBC, LFT, RFT, TFT, blood glucose, blood lipis & cholesterol  other blood tests to look for
organic causes if indicated
• Urine for drug screen  probably most important investigation
• ECF, brain scan & EEG  if indicated
• Collateral history from other informants
• If indicated
o Occupational therapy assessment of functioning
o Social assessment for housing, benefits, finances
o Carer assessment
LEVEL OF CARE
• One of the important intial steps in managing patietns with psychosis or schizophrenia is to decide the level of
care  involves answering two questions
o Where does this patient need to managed?  inpatient or community
o Which service is most appropriate to manage the patient?
Are there any urgent and immediate concerns regarding risks because of the patient’s psychotic symptoms?
NO YES
Is the patient aged between 18—35, and this is his/her first epi- Can these risks be adequately managed in the community
sode of suspected psychosis? with intensive input?
YES NO
NO YES
Refer to Early Intervention in Does this patient have an established psy- Is the patient willing to Consider referring to Crisis Resolution
Psychosis Team (EIP) — some- chotic illness (eg. Schizophrenia) and need a come to hospital and is able and Home Treatment (CRHT) Team or
times this is provided by Com- period of intensive
n psychiatric rehabilitatio to provide a valid consent inform/liaise with secondary mental
munity Mental Health Team to improve his/her functio ing (eg. Promi- for informal admission? health services (Community Mental
nent negative symptoms, treatment-resistant Health Team [CMHT] or other specialist
positive symptoms)? teams) if already a patient.
NO YES
YES
NO
Refer to Community Rehabilita- Does this patient have multiple previous psy- Arrange a Mental Health Act (MHA) The patient will need admission to a
tion Service—sometimes this is chiatric admissions, possibly under the Men- assessment to see if patient needs to psychiatric ward informally
provided by Community Mental tal Health Act and have a tendency to disen- be detained under the MHA for further
Health Team gage with services? assessment & treatment
YES NO
Refer to Assertive Outreach (AO) Refer to local Community Mental

team—sometimes this is provid- Health Team (CMHT) - may have
ed by Community Mental Health different names in each locality
Team
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TREATMENT PLAN
• All psychiatric conditions are treated using the bio-psycho-social model
• Biological treatment
o Anti-psychotics  1st generation (typical) and 2nd generation (atypicals)
o Physical health
o Treatement Resistent Schizophrenia (TRS)
• Psychological treatment
o Cognitive behavioural therapy
o Family intervention therapy
• Social treatment
o Daytime activities, occupation, o Benefits
employment, education, leisure, o Relationshops
hobbies o Cultural needs
o Family o Safeguarding
o Accomodation
• Follow up  depending on the illness, usually need secondary mental health service follow up (CMHT, AO or
EIP)  although some patients with more stable illness can be monitored and followed up GP
• It is important to remember that psychosis and schizophrenia impacts on those around the patient too and to
not forget about the carers needs
• Expressed Emotion  refers to the carers emotional reaction to the individual with schizophrenia  there
are 3 different domains
o Criticism
o Hostility
o Over-involvement
Explain the aetiology, bio-psycho-social management plan and prognosis for psychosis to a patient, carer or
colleague
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Depression CP2 Learning Objectives Psychiatry
DEPRESSION
Knowledge of the epidemiology, aetiology and prognosis of depressive disorders
EPIDEMIOLOGY
• More common in females than males  2:1
• Lifetime prevalence of depressive symptoms  10-20%
• Point prevalence of major depressive illness 5%  of these 10% are referred to a psychiatrist and 0.1%
admitted to hospital
AETIOLOGY
• Biological • Social
o Genetics o Life events
o Hormonal changes o Social isolation
o Substances misuse o Bereavement
o Serious illness o Loss
• Psychological o Childhood abuse
o Negative thoughts o Social adversity
o Learned helplessness
o Psychodynamic defence mechanisms
PROGNOSIS
• 50-60% will recover within a year
• Chronic depression (>2yrs) occurs in 10-25%
• 5-15% will die by suicide
• Following an episode of depression
o After 1yr  25% will have had a further episode
o After 10yrs  75% will have had a further episode
Knowledge of clinical presentation, including an understanding of the ICD- 10 diagnostic criteria, of depressive disorders
• For a depressive episode, a duration of at least 2 weeks is usually required for diagnosis  shorter periods
may be reasonable if symptoms are unusually at the severe end of rapid onset
• Symptoms
o Low mood o Ideas of guilt and unworthiness
o Loss of interest and enjoyment  o Pessimism about the future
anhedonia o Ideas/acts of self-harm/suicide
o Reduced energy  anergia o Disturbed sleep
o Reduced concentration o Changes in appetite
o Reduced confidence and self-esteem
• Some ‘biological’ symptoms of depression are regarded as having particular clinical significance  these are
referred to as the ‘somatic syndrome’
• Somatic syndrome
o Markedly reduced appetite
o Weight loss  >5% of normal body weight in 1 month
o Early morning wakening  at least 2hrs before usual time
o Diurnal variation in mood  worse in the morning and improving through the day
o Psychomtor retardation/agitation
o Loss of libido
o Marked anhedonia
o Lack of emotional reactivity
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SUICIDE & SELF-HARM IN DEPRESSION
• Whilst suicide and self-harm are associated with a number of psychiatric diagnoses, and are frequently
multifactorial  depression remains an important risk factor
• Studies suggest that between 36-90% of those who die by suicide have a diagnosis of depression
• Between 5-15% of those with a diagnosis of depression will die by suicide
• Those who do die by suicide and have a diagnosis of depression are more likely than other depressed patients
to have a history of self-harm, and to have experienced a sense of hopelessness  as such, hopelessness and
self-harm are important risk factors for suicide
SEVERITY OF DEPRESSION
Mild depressive episode Moderate depressive Severe depressive episode Severe depressive episode
episode with psychotic symptoms
At least two of the three At least two of the three All three core symptoms All three core symptoms
core symptoms core symptoms
Plus additional symptoms, Pluss additional Plus additional symptoms, Plus additional symptoms,
giving a totally of at least symptoms, giving a total of giving a total of at least giving a total of at least
four at least six eight eight
With or without the With or without the Plus delusions,
somatic syndrome somatic syndrome hallucinations or
depressive stupor
ICD-10 FOR DEPRESSIVE EPISODES
• At least two of the following core symptoms
o Depressed mood
o Loss of interest and enjoyment
o Reduced energy or increased fatigability
• AND – at least two of the following
o Reduced concentration and attention
o Reduced self-esteem and self-confidence
o Ideas of guilt and unworthiness
o Bleak and pessimistic view of the future
o Ideas or acts of self-harm or suicide
o Disturbed sleep
o Diminished appetite
depressive disorders
• Neurological  MS, Parkinson’s disease, Huntingdon’s disease, SCI, stroke, head injury or cerebral tumours
• Endocrine  Cushing’s disease, Addison’s disease, Thyroid disorders, Parathyroid disorders or menstrual
cycle-related
• Infections  Hepatitis, infectious mononucleosis, Herpes simplex, brucellosis, typhoid, HIV/AIDS or syphilis
• Other  malignancies, SLE, RA, renal failure, porphyria, vitamin deficiencies or chronic pain
Knowledge of the common co-morbidity of depressive disorders

DEPRESSION WITH PSYCHOSIS
• In severe cases of depression, people can also experience psychotic symptoms  delusions and hallucinations
• Delusions:
o Tend to be mood congruent  in line with mood
o Worthlessness, guilt, ill health, poverty & imminent disaster
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o Nihilistic delusions  belief that self, part of the self, part of the body, other persons, or the whole
world has ceased to exist
o Persecutory delusions can also occur
• Hallucinations
o 2nd person auditory  often accusatory or defamatory
o Olfactory  filth or rotting/decomposing flesh
Knowledge of the physical, psychiatric and social consequences of depressive disorders
Knowledge of the indications, theories and practical implementation of psychological interventions in depressive
disorders
Knowledge of the indications and practical implementation of social interventions in depressive disorders
Develop a structured targeted management plan for an individual patient with a depressive disorder
Biological Psychological Social
Augmentation of T3 in treatment- Psychoeducation Support with regard to education, training,
resistant depression employmeny
Augmentation with 2nd generation Interpersonal therapy Support with regard to housing, benefits
‘atypical’ anti-psychotic in treatment (IPT)
resistant depression
Anti-depressants (1st line SSRI) Cognitive behavioural Carer support
therapy (CBT)
Augmentation with lithium in Self-help materials Community Psychiatric Nurse (CPN) and
treatment-resistant depression outpatient appointments to monitor symptoms,
mood, mental state for more severe depression
Electroconclusive therapy (ECT) Work around social inclusion
NICE STEPPED CARE FOR DEPRESSION
• Step 1  All known and suspected presentations of depression
o Assessment
o Active monitoring
o Psychoeducation
o Computerised CBT
o Sleep hygiene
o Guided self-help
• Step 2  Mild/Moderate Depression
o Managed in primary care
o Low-intensity psychological interventions
o Medication
• Step 3  Moderate/Severe Depression & Depression that has failed to respond to treatment
o Managed in primary care
o Medication
o High-intensity psychological interventions
o Consider secondary care referral
• Step 4  Severe Complex Depression, Life-threatening presentations & Severe self-neglect
o Managed in secondary care
o Medication
o High-intensity psychological interventions
o ECT
o Crisis Resolution & Home Treatment (CRHT)
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o Multidisclipinary (MDT) approach
o Inpatient care
RELAPSE
• Following recovery from a single episode of depression  evidence would suggest continued
pharmacotherapy for 6 months to reduce risk of relapse
• Following recovery from recurrent depression  evidence would suggest continued pharmacotherapy for 2
years to reduce risk of relapse
• If a patient experiences a return of symptoms or there is evidence of chronic symptoms, the biopsychosocial
management plan should be recivisted
Recognise psychopathologies of depressive disorders in a clinical interview
Give a list of relevant differential diagnoses in patient with depressive symptoms

• Psychiatric differentials  depression can occur as a consequence of another illness
o Schizophrenia
o An anxiety disorder
o An eating disorder
o Dementia
• Organic differenetials
o Neurological  MS, Parkinson’s disease, Huntington’s disease, spinal cord injury, CVA, head injury,
cerebral tumours
o Endocrine  Thyroid & parathyroid disorders (hypothyroidism), Cushing’s/Addison’s disease
o Infections  HIV/AIDS, syphilis, typhoid, brucellosis, infectious mononucleosis, herpes simplex
o Iatrogenic  secondary to prescription of opiates, L-dopa, steroids
o Others  Malignancies (especially pancreatic), SLE, rheumatoid arthritis, renal failure, porphyria
LEVEL OF CARE
• Most people with depression are looked after within primary care
• When depression is severe and first-line treatments have been unsuccessful, or levels of risk are escalating 
secondary mental health services, such as a community mental health team or crisis team may be indiciated
• Inpatient admissions may also be indicated in the most severe cases
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Mania & Bipolar CP2 Learning Objectives Psychiatry
MANIA AND BIPOLAR AFFECTIVE DISORDER

Knowledge of the epidemiology, aetiology and prognosis of bipolar disorders
ASSESSMENT
• History  often requiring collateral
• Organic differentials  substance misuse, hyperthyroidism, space-occupying lesions, metabolic disorders and
epilepsy
• Use of the Mental Health Act as part of assessment
• Level of care  secondary mental health services, such as CMHT, crisis team, EIP – inpatient admission may
be indicated
EPIDEMIOLOGY
• Lifetime risk  1%
• Equal prevalence in men & women
• Onset generally late teenage to early twenties
AETIOLOGY
• Genetics  relatives of people with bipolar disorder have increased risk of bipolar, unipolar depression and
schizoaffective disorder
• Life events  prolonged stressful circumstances or vulnerability factors can predispose to or precipitate
episodes of affective disturbance
• Substance misuse  this is often thought to be a precipitating factor in episodes of illness
PROGNOSIS
• The average length of a manic episode, whether treated or untreated, is 6 months
• Following a manic episode  at least 90% will have a further episode of mood disturbance
• Patients with bipolar disorder experience, on average, 10 episodes of mood disturbance, over 25yr follow-up
period
• Recovery from acute episodes tends to be good, but the long term prognosis can be poor  less than 20%
achieve a period of 5 years of clinical stability, with good social/occupational performance
• People with bipolar disorder are round 20-30 times more likely to die by suicide than are the general
population
RELAPSE
• Relapse can be because of the following
o Non-concordance with medication
o Life events, social stressors
o Disruption of circadian rhythm
o Substance misuse
o Childbirth  puerperal psychosis
o Natural course of the illness
Knowledge of clinical presentation, including an understanding of the ICD- 10 diagnostic criteria, of bipolar disorders
• Hypomania  symptoms need to have been present for 4 days to justify a diagnosis
o Mild elevation or instability of mood
o Increased energy
o Mild overspending, risk-taking
o Increased sociability, overfamiliarity
o Distractibility
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o Increased sexual energy
o Decreased need for sleep
• Mania  symptoms need to have been present for a week or have to be severe enough to necessitate
inpatient admission
o Mood is elevated, expansive, irritable
o Increased acitivty
o Reckless behaviour
o Disinhibiition
o Marked distractibility
o Markedly increased sexual energy
o Sleep severly impaired or absent
o Grandiosity
o Flight of ideas
bipolar disorders
VARIATION IN MOOD
• Normal mood variation  mood shows up & downs, but none cross threshold for hypomania/mania or
depression
• Recurrent depressive disorder  there are two significant episodes of low mood, each justifying a diagnosis
of depression  as such, the depressive disorder is recurrent
• Cyclothymia  refers to a persistent instability of mood with a number of period of mild depressive
symptoms or mild elation, where no episode meets the threshold for a depressive or a manic episode
• Bipolar affective disorder  clear episodes of mania and depression
• Dysthymia  mood that is chronically low, where no episodes justifies a diagnosis of a depressive disorder
• ‘Double’ depression  the occurrence of an episode of depression in someone with a previous history of
dysthymia
Knowledge of the common co-morbidity of bipolar disorders

• Mania with psychotic symptoms  the diagnostic criteria are the same, but with the addition of delusions &
hallucinations  up to 10% of people experiencing mania with psychotic symptoms will describe ‘first rank’
symptoms
o Delusions  often mood congruent
o Hallucinations  less frequent, but where present they are likely to be mood congruent and often
take the form of 2nd person auditory hallucinations
Knowledge of the physical, psychiatric and social consequences of bipolar disorders
Knowledge of the indications, theories and practical implementation of psychological interventions in bipolar disorders
ACUTE MANIA
• Formal psychological approaches are unlikely to be appropriate in the acute phase
• Psychoeducation
BIPOLAR DEPRESSION
• CBT  especially if it is mild to moderate depressive episode
• Psychoeducation
RELAPSE IN BIPOLAR AFFECTIVE DISORDER

• Psychoeducation
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• Offer a family intervention  eg. family therapy
• Offer a structured psychological intervention to prevent relapse or manage residual symptoms  eg. CBT
Knowledge of the indications and practical implementation of social interventions in bipolar disorders
ACUTE MANIA
• Advise not to make serious decisions whilst unwell
• Consider use of the Mental Health Act
• Consider inpatient admission
• Consider a calming, low-stimulus environment
• Advise to maintain relationships with carers
BIPOLAR DEPRESSION
• Carer support
• Consider inpatient admission if risk indicates
• Support with regard to education, training & employment
• Work around social inclusion
• Consider intervention to reduce social stressors

• Support with regard to housing, benefits
• Work around social inclusion
• Support with regard to education, training & employment
• Carer support
• CPN and outpatient appointments to monitor symptoms, mood & mental state
Develop a structured targeted management plan for an individual patient with a bipolar disorder
ACUTE MANIA
• Stop any prescribed anti-depressants
• Consider lithium or valproate  or adjust dose if already on these medications
• Consider benzodiazepines for behavioural disturbance  eg. lorazepam & diazepam
• Offer an anti-psychotic  haloperidol, olanzapine, risperidone or quetiapine
BIPOLAR DEPRESSION
• Consider mood stabilisers or optimise the dose  lithium, valproate or lamotrigine
• Anti-depressants (SSRIs) can be used, but needs to be with an anti-manic agent
• Consider 2nd generation/atypical anti-psychotic  olanzapine, quetiapine

• Avoid use of anti-depressants  never prescribe an anti-depressant ‘unopposed’ – eg. without a mood
stabiliser
• Offer lithium, discussing benefits & risks  if intolerable, consider valproate or olanzapine instead
• Remember lithium & valproate are associated with foetal abnormalities, so consider anti-psychotics as 1st line
mood stabiliser in women of childbearing age
PHYSICAL HEALTH MONITORING

• People with bipolar affective disorder should be offered a healthy eating/physical activity programme 
weight and other CVS & metabolic indicators of morbidity should be monitored, at least annually
• Some medications have their own monitoring requirements  eg. lithium levels weekly whilst initiating and
after any dose change and every 3 months thereafter  also need to check U&E and TFT every 6 months
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• Provide advice with regard to contraception and folic acid if lithium, valproate, carbamazepine are prescribed
to women of childbearing age
Recognise psychopathologies of bipolar disorders in a clinical interview
Give a list of relevant differential diagnoses in patient with bipolar symptoms

DIAGNOSIS
• In order to diagnose bipolar affective disorder:
o Need to elicit current symptoms and past episodes
o Absolute numbers of symptoms are relatively unimportant
• Importance of correct diagnosis
o Alters management
o Predicts likely response to treatment
o Can determine level of care
o Changes prognosis
• Examples
o Acute mania  one episodes of mania
o Bipolar affective disorder  two episodes of mania
o Bipolar affective disorder  one episode of mania, one episode of depression
o Recurrent depressive disorder  two episodes of depression
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Mood Disorders CP2 Learning Objectives Psychiatry
MOOD DISORDERS, SUICIDE & SELF-HARM

An awareness of the risk factors and principles of acute management for suicide, self-harm, neglect and harm to others
• Self-harm  a deliberate, non-fatal act of injuring oneself, done in the knowledge that it is potentially harmful
• Suicide  the act of intentionally killing oneself with primary aim of dying
SELF HARM
• Epidemiology of self-harm
o M:F = 1:2
o Divorced > Single > Widowed > Married
o 2/3 of people who harm themselves are under 35yrs
o Overdoses and cutting are the most common methods
Biological Psychological Social Spiritual

Genetics Abuse Having friends who self-harm Crisis of faith
Predisposing Substance misuse Bullying Housing concerns
Age – young adults Bereavement Money worries
Substance misuse Relationship breakdown Having friends who self-harm Crisis of faith
Difficult feelings Housing concerns
Precipitating Endings/change Money worries
Work/school pressures
Endings/change
Substance misuse Have friends who self-harm Crisis of faither
Housing concerns
Perpetuating Work/school pressures
Money worries
Isolation, loneliness
• Assessment  people who have self-harmed should

o Be cared for with compassion and the same respect and dignity as any service user
o Have an initial assessment of physical health, mental state, safeguarding concerns, social
circumstances and risks of repetition or suicide
o Receive a comprehensive psychosocial assessment
• Appropriate environment  people who have self-harmed should
o Receive the monitoring that they need while in the healthcare setting, in order to reduce the risk of
further self-harm
o Be cared for in a safe physical environment while in the healthcare setting, in order to reduce the risk
of further self-harm
• Care and forward planning  people who have self-harmed should
o Receive appropriate physical treatment for their injuries
o Be referred for specialist psychosocial assessment of their needs  secondary mental health services
• People who have self-harmed, who are already involved with mental health services should
o Have a collaboratively developed risk management plan
o Have a discussion with their lead healthcare professional about the potential benefits of psychological
interventions specifically structured for people who self-harm
• Factors predicting repetition of self-harm
o Number of previous episodes
o A diagnosis of personality disorder
o History of violence
o Alcohol misuse/dependence
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o Being unmarried
SUICIDE
• Factors indicating suicidal intent
o Precautions to avoid intervention  o Anticipatory acts  leaving a will,
isolation, timing settling debts
o Planning o Use of violent methods
o Leaving a suicide note o Perceived lethality by the patient
• Epidemiology of suicide
o M:F = 3:1
o Second leading cause of death among 15-29yrs
o 1 death every 40secs
o Over 800,000 deaths per year worldwide
o Particularly vulnerable groups
▪ Prisoners
▪ Asylum seekers
▪ People with LGBTQ & background
▪ Veterans
Knowledge of the indications, mechanism of action and side effects of antidepressants

INDICATIONS
• Depressive illness  more effective in • Impulsivity
moderate and severe depression • Migraines
• Anxiety disorders • Chronic fatigue syndrome
• Neuropathic pain • Irritable bowel syndrome
• Insomnia • Narcolepsy
• Bulimia nervosa
MECHANISM OF ACTION
• Serotonin, noradrenaline and dopamine are all neurotransmitters that are implicated in depression and
anxiety disorder  anti-depressants assert their effect mainly through the serotonin (raphe nuclei) and
noradrenaline (locus coeruleus) systems
• Normally  serotonin is released from the presynaptic membrane, crosses the synaptic cleft and binds with
the postsynaptic receptors  the serotonin is then taken back up into the presynaptic synapse
• Most commonly prescribed anti-depressants (SSRIs, TCAs and SNRIs) inhibit the reuptake of serotonin,
noradrenaline or bother  which results in the enhancement of neurotransmission
• The time taken from initiation to response in depressive illness is between 1-6 weeks
SELECTIVE SEROTONIN REUPTAKE INHIBITOR (SSRI)

• SSRIs primarily assert their effect on the serotonin system  however, SSRIs also have a varying affinity for
noradrenaline and dopamine transporters
• Examples
o Fluoxetine o Sertraline
o Paroxetine o Fluvoxamine
o Citalopram o Escitalopram
• Though SSRIs are probably the best tolerated anti-depressant, they are not without side effects  transient
side effects of nausea and an exacerbation of anxiety are common on initiation  other side effects include
o Nausea o Apathy & fatigue
o Insomnia o Diarrhoea
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o Dizziness o Sexual dysfunction
o Sweating o Cardiac defects in 1st trimester
o Restlessness  akathesia exposure  Paroxetine
SEROTONIN-NORADRENALINE REUPTAKE INHIBITOR (SNRI)

• SNRIs are the 2nd most commonly prescribed class for the treatment of depressive illness  SNRIs are
generally reserved for 2nd or 3rd line treatment
• Examples
o Venlafaxine
o Duloxetine
• The side effects of SNRIs are comparable to SSRIs, but patients may notice more sedation and greater
discontinuation symptoms when stopped
TRICYCLIC ANTI-DEPRESSANTS (TCA)

• TCAs were discovered in the 1950s and were the most frequently prescribed anti-depressants  SSRIs and
SNRIs, due to their preferable side effects, have largely replaced TCAs in routine clinical practice
• TCAs are toxic in overdose, therefore you should take into consideration a person’s risk of suicide when
deciding on an appropriate anti-depressant  Lofepramine is less toxic
• TCAs have not been associated with teratogenic effects, therefore are not used 1st line in pregnancy
• Examples
o Amitriptyline o Dosulepin
o Imipramine o Lofepramine
o Clomipramine
• The majority of the side effects to TCAs are due to anti-muscarinic side effects  dry mouth, blurred vision,
constipation and urinary retention
• Other side effects include
o Sedation o Hypotension
o Weight gain o Delirium
o Dizziness
MONOAMINE OXIDASE INHIBITOR (MAOI)
• The use of MAOIs has been largely been superseded by other anti-depressants  MAOIs continue to be used
for treatment resistant depression and atypical depression
• The reason for the limited use of MAOIs is that they carry a significant risk of serious drug/food interactions,
this is commonly known as the “cheese reaction”
• Due to the limited use of MAOIs  it would not be expected that a Foundation Year doctor would know
about MAOIs in any details
• Examples
o Phenelzine o Isocarboxazid
o Tranylcypromine o Moclobemide  reversible MAOI
• The most common side effects of MAOIs include
o Dry mouth o Sleep disturbance
o Nausea, diarrhoea or constipation o Postural hypotension
o Headache
NORADRENERGIC AND SPECIFIC SEROTONERGIC ANTI-DEPRESSANT
• Mirtazapine is effective in a variety of psychiatric disorders  there is also evidence to suggest that
Mirtazapine may be superior to SSRIs in the treatment of depression
• Mirtazapine can be combined with other anti-depressants in treatment resistant depression  it is also a
useful medication to reduce anxiety
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• Mirtazapine is moderately well tolerated  however, patients may experience significant sedation and/or
weight gain on relatively low doses, which may not be acceptable to some patients
• Common side effects of mirtazapine
o Weight gain and increased appetite o Dizziness
o Drowsiness o Headache
ST JOHN’S WORT (HYPERICUM PERFORATUM)

• St John’s Wort is an unlicensed herbal remedy for the treatment of depression  RCTS have demonstrated
efficacy, but probably less effective than SSRIs  preparations are not standardised, so it is difficult to guide
on dosing
• St John’s Wort has several important drug intereactions  it induces cytochrome P450 leading to loss of
therapeutic effect of
o Oral contraceptive o HIV protease inhibitor
o Digoxin o Anti-consultants  eg. Phenytoin,
o Warfarin Carbamazepine
TREATMENT
• Initially commence an effective and tolerated dose  initial improvement can start within the 1st week of
treatment
• At least 3-4 weeks (up to 12 weeks in the elderly) at an effective dose is required before deciding whether a
treatment has failed
• If a partial improvement has occurred by 4 weeks it is advisable to continue treatment for another 2-4 weeks,
before considering alternative treatments  70% will respond to first medication
• It is advisable to continue the anti-depressant at the same dose for at least 6 months following resolution of
symptoms
• Withdrawal effects have been recognised with all anti-depressants  however are more frequently with
Paroxetine & Venlafaxine
• The symptoms of withdrawal are generally mild and transient, but more severe and disabling symptoms have
been reported  symptoms include
o Dizziness o Sweating
o Numbness o Anxiety
o Tingling o Sleep disturbance
o Nausea o Strange dreams
o Vomiting o Shaking
o Headache o Electric-shock like sensations
• Tapering the dose gradually over a period of at least 4 weeks can help reduce symptoms
NICE STEPPED CARE

• STEP 1 – Suspected presentation of depression  assessment, support, psychoeducation, active monitoring
and referral for further assessment & intervention
• STEP 2 – Persistent subthreshold depressive symptoms (mild to moderate depression)  low-intensity
psychosocial interventions, psychological interventions +/- medication if moderate depression
• STEP 3 – Persistent subthreshold depressive symptoms or mild to moderate depression with inadequate
response to initial interventions (moderate to severe depression)  medication, high-intensity psychological
interventions, combined medication and psychological interventions
• STEP 4 – Severe & complex depression, risk to life and severe self-neglect  medication, high-intensity
psychological interventions, ECT, crisis service, combined treatments, multi-professional and inpatient care 
usually involved secondary mental health services
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Knowledge of the indications, mechanism of action and side effects of mood stabilisers
INDICATIONS FOR MOOD STABILISERS
• Prophylaxis for bipolar disorder
o Single manic episode associated with significant risk
o Illness with significant impact on functioning
o Two or more acute episodes
• Treatment for an acute mania/hypomania  generally not 1st line
• Treatment for bipolar depression
• Augmentation for anti-depressants in treatment resistant depression
LITHIUM
• The mechanism of lithium remains unclear, but it is indicated
o Acute mania/hypomania o Bipolar depression
o Prophylaxis in bipolar disorder o Treatment resistant depression
• A meta-analysis has demonstrated that lithium treatment can reduce the risk of both attempted sucicide and
completed suicide by 80%
• Lithium has a narrow therapeutic range  too little it is ineffective and too much gives toxicity  it is
essential to titrate lithium dosing and monitor lithium levels after a minimum of 5 days – aiming for a range of
0.4-1.2mmol/L
• Due to the narrow therapeutic range it is important that common and toxic side effects can be distinguished
 common side effects
o GI upset o Metallic taste in mouth
o Fine tremor o Weight gain
o Polyuria o Oedema
o Polydypsia
• Lithium toxicity is associated with low sodium diets, dehydration, drug interactions (NSAIDS, ACE-I, thiazide
and loop diuretics) and some physical illnesses, such as Addison’s disease  lithium toxicity occurs with
plasma concentrations over 1.5mmol/L
• Symptoms of toxicity include
o Diarrhoea o Nystagmus
o Course tremor o Confusion
o Ataxia o Convulsions
o Dysarthria
• Plasma concentrations over 2.5mmol/L are usually associated with serious toxicity requiring emergency
treatment include haemodialysis
• Due to the narrow therapeutic range, there is a requirement for checking regular lithium levels  in addition,
lithium is known to be nephrotoxic and thyrotoxic  monitoring for patients on lithium should include
o Lithium levels  once every 3 months
o U&Es  once every 6 months
o TFTs  once every 6 months
• Lithium is a known teratogen, with an increased risk of major congenital malformations (6%)  it is therefore
recommended that where possible lithium should be withdrawn prior to conception  the majority of the
malformations are cardiac defects (ASD, VSD and Ebstein’s anomaly
VALPROATE
• Valproate is commonly used in two preparation – sodium valproate & valproate semi-sodium (Depakote)  it
is indicated in
o Acute mania/hypomania
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o Prophylaxis in bipolar disorder
• The literature suggests that valproate inhibits catabolism of GABA, alters synaptic plasticity, promotes BDNF
expression and reduces levels of protein kinase C
• Valproate is known to be teratogenic  therefore adequate contraception is essential when prescribing
valproate  ideally valproate should be withdrawn prior to conception  it is associated
o Congenital Malformation o Autism
o Neural tube defects o Valproate syndrome
o Low verbal IQ
LAMOTRIGINE
• Lamotrigine indications
o Bipolar depressions
o Augmentation of anti-depressants in treatment resistant depression
• Lamotrigine is generally well tolerated  however the dose needs to be titrated due to concerns with the
development of Stevens-Johnson syndrome
• Lamotrigine is probably the least teratogenic of the mood stabilisers  however there is a possibly an
increased risk of cleft lip/palate with 1st trimester exposure
CARBAMAZEPINE
• Carbamazepine blocks voltage-dependent sodium channels  it is indicated in
o Acute mania/hypomania
o Bipolar depression
Knowledge of the indications, mechanism of action and side effects of ECT

• Electroconvulsive therapy (ECT) was first introduced in 1938 and its use became widespread in the 40s & 50s
 it more recent years ECT has become controversial in some spheres
• Indications for ECT
o Treatment resistant depression
o Life-threatening severe depression
o Treatment resistant mania
o Catatonia
• A patient will typically receive between 4 and 12 sessions in a course of ECT  the sessions usually occur
twice per week
• ECT remains one of the most effective treatment we have, especially in the treatment of depression  meta-
analyses have demonstrated a large effect size for ECT in comparison to placebo and anti-depressants
• The exact mechanism of ECT remains elusive  it is unlike to be a single component  however many
mechanisms are implicated and the mechanism of action is like to be a combination of
o Modulation of neurotransmitter functioning
o Changes in regional blood/activity
o Modulation of neuronal connectivity
o Alterations of neuronal structures  including hippocampal neurogenesis
• Despite the demonstrated efficacy of ECT – the usage rate is falling  this is likely to be due to increasingly
available treatments, concerns over side-effects and public/clinicians’ perceptions
• Contraindications
o Cochlear implant o Intracranial aneurysm
o Raised intracranial pressure o History of cerebral haemorrhage
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o Recent myocardial infarction  less o Decompensated cardiac failure 
than 3 months ECHO may be helpful
o Aortic aneurysm o Acute respiratory infection
o Uncontrolled cardiac arrhythmias o Deep vein thrombosis
• There are a number of side-effects of ECT in addition to those associated with the anaesthetic  but most
resolve on completion of the course of ECT
o Common side effects
▪ Headache ▪ Temporary retrograde and
▪ Confusion anterograde amnesia
▪ Impaired cognitive function
o Longer-term side effects  a specific component of retrograde memories before ECT may be
effected longer term, this usually related to autobiographical memories  though the evidence for
this is somewhat inconsistent, patients should always be advised that their memory of some events in
the previous years could potentially be affected
Explain the aetiology, bio-psycho-social management plan and prognosis for mood disorders to a patient, carer or
colleague
Be able to describe to a patient or carer how ECT is administered
• There are two options for the placements of the electrodes  bilateral and unilateral
o Bilateral placement is probably more effective, but may well give rise to more cognitive side effects
o Unilateral does give less cognitive side effects, but is also probably less effective
• During the first session of ECT, a dose titration is carried out to establish the seizure threshold  the effective
dose can then be calculated  in order to determine whether an effective seizure has been achieved, an EEG
is utilised
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Health Anxiety CP2 Learning Objectives Psychiatry
HEALTH ANXIETY, SOMATISATION & MEDICALLY UNEXPLAINED SYMPTOMS

Knowledge of the normal and abnormal psychological and behavioural responses to physical illness health such as sick
role and illness behaviours
• Health anxiety  an umbrella term that encompasses a wide range of:
o Excessive health-related concerns  eg. ruminations on having an illness, suggestibility if one reads
or hears about a disease, unrealistic fear of infection
o Somatic perceptions  eg. preoccupation with bodily sensations or functioning
o Behaviours  eg. repeated reassurance seeking, avoidance of medications or medical personnel
• Somatisation/Medically Unexplained Symptoms (MUS)  is the process by which “pyschological distress is
expressed through physical symptoms and subsequent medical help-seeking”
HEALTH ANXIETY
• Health anxiety is not a term found in ICD-10  however, it is linked to various ICD-10 categories  such as
hypochondriasis
• Hypochondriasis or hypochondriacal disorder  concerns about having a serious illness persists for at least 6
months despite medical assurance and these concerns cause clinically significant impairment or distress
• Health anxiety can also be part of somatisation disorder, obsessive-compulsive disorder (OCD), body
dysmorphic disorder, panic disorder and delusional disorder
• It is difficult to ascertain the exact prevalence of health anxiety related disorders and its prevalence depends
on the setting  eg. in a specialist neurology clinic, some suggest that up to 1/3 patients have some form of
somatoform disorder
• In most somatic symptom disorder categories, a female preponderance exists  the F:M has been estimated
to be 10:1 for somatization disorder, from 2:1 to 5:1 for conversion disorder and from 2:1 for pain disorder
• Health anxiety can be conceptualized into 3 different subtypes
o Cognitive type  health anxiety with high cognitive awareness and more pronounced fear of disease
o Somatising type  health anxiety with high symptom awareness and more pronounced bodily
preoccupation
o Behavioural type  health anxiety with high disease conviction and avoidance
• Some patients of somatization or hypochondriasis respond well to medication, psychotherapy or both
o If the person has anxiety or depression that responds to treatment with medication, the prognosis
can be quite good
o In mild cases, the symptoms can be short-lived
o If the symptoms are severe and the person has other mental health disorders, the person may be
susceptible to chronic distress and problems functioning
Knowledge of epidemiology, aetiology, clinical presentation (including an understanding of the ICD-10 diagnostic
criteria) and prognosis of the following disorders: somatoform disorders and dissociative disorders
SOMATISATION DISORDER
• There must be a history of at least 2 years complaints of multiple and variable physical symptoms that cannot
be explained by any detectable physical disorder
• Preoccupation with symptoms causes persistent distress and leads the patient to seek repeated consultations
or sets of investigation with either primary care or specialist doctors  or persistent self-medication
• There is a persistent refusal to accept medical reassurance that there is no adequate physical cause for the
physical symptoms
• There must be a number of symptoms from at least two separate groups from the following list
o GI symptoms  abdominal pain, nausea, feeling bloated, bad taste in mouth, complaints of vomiting
or frequent loose bowel motions
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o Cardiovascular  breathlessness without exertion or chest pain
o GU symptoms  dysuria, unpleasant sensation around the genitals, complaints of unusual or copious
vaginal discharge
o Skin & pain complaints  blotchiness, discolouration, pain in limbs, unpleasant numbness or tingling
sensation
HYPOCHONDRIAL DISORDER
• Either of
o Persistent belief, of at least 6 months, of the presence of a maximum of two serious physical diseases
 of which at least one must be specifically named by the patient
o Persistent preoccupation with a presumed deformity or disfigurement  body dysmorphic disorder
• Preoccupation with the belief and the symptoms causes persistent distress or interference with personal
functioning in daily living, and leads the patient to seek medical treatment or investigation
• Persistent refusal to accept medical reassurance that there is no physical cause for the symptoms or physical
abnormality
FACTITIOUS DISORDER
• Commonly known as Munchausen’s
• Patient feigns or exaggerates symptoms for no obvious reason
• Patient may even inflict self-harm in order to produce symptoms or signs
• Internal motivation with aim of adopting the sick role
• Munchausen syndrome by proxy  the patient imposes symptoms to other individuals  eg. a child
MALINGERING
• Conscious manufacturing or exaggerating of symptoms for a secondary gain  eg. benefits, housing, other
than assuming the sick role
DISSOCIATIVE (CONVERSION) DISORDER

• Classically a traumatic event leads to a disruption of the usually integrated functions of consciousness,
memory, identity or perception
• Patient may deny the impact of the traumatic event  they may also lack a concern for the disability
• Sometimes it is called conversion disorder  convert anxiety into more tolerable symptoms (primary gain)
that attract benefits of the sick (secondary gain)
• A number of different presentations:
o Amnesia o Stupor
o Fugue  sudden, unexpected journey o Trance or possession disorders
that may last a few months, together o Motor disorders
with memory loss, confusion about o Anaesthesia/sensory loss
personal identity o Convulsions  “pseudo-seizures”
Knowledge of the common co-morbidity of somatoform disorders and dissociative disorders
Knowledge of the physical, psychiatric and social consequences of somatoform disorders and dissociative disorders
Knowledge of the principles of management of somatoform disorders and dissociative disorders

GENERAL PRINCIPLES
• Mostly managed in primary care
• Rapport
o Establish therapeutic rapport with patient suffering with health anxiety
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o Help patient to feel their suffering is appreciated and understoof  acknowledge patient’s symptoms
are real and they don’t make these up
o Patient should be approached with empathy and acceptance while refocusing treatment away from
‘cure’ and towards symptom management
• Interaction with patients
o Limit use of medical jargons for normal variation in functioning
o Scheduling of regular appointment independent from symptom status, preferably with the same
healthcare professional to avoid doctor shopping
• Make the link between physical symptoms and psychological factors  broaden the agenda from a purely
physical cause to include a psychological explanation
BIOLOGICAL
• Evidence of the long-term efficacy of medication is weak
• Sometimes anti-depressants (SSRI or SNRI) may be useful
• In the case of hypochondriacal delusion  anti-psychotic may also be indicated
• Avoid routine benzodiazepine use
PSYCHOLOGICAL
• Cognitive behaviour therapies
o Cognitive therapy focuses on modifying dysfunctional thoughts in response to symptoms
o Behaviour therapy deals with decreasing problematic behaviour  eg. reassurance seeking,
avoidance
• Psychoeducation
SOCIAL
• Encourage normal function  patient may avoid normal activities as they thin these activities may exacerbate
problems
• Involve social network to improve emotional support
Knowledge of the relationships between physical illness and psychiatric disorders
Knowledge of physical conditions that present with psychiatric symptoms, including appropriate investigations for these
conditions
• Investigations for health anxiety/somatization
o The main goal is to minimize unnecessary tests and treatment  sometimes boundary is important
o Over-investigations or over-medication can reinforce physical illness beliefs and further increase
anxiety
o Do make sure that you have done reasonable investigations and don’t assume everything is in the
patient’s mind
Recognise and able to explain the interaction between physical conditions and psychiatric symptoms
Recognise possible psychopathologies in patient with medically unexplained symptoms and somatisation
Produce differential diagnoses for patient with medically unexplained symptoms and somatization
• Hypochondriacal and somatization disorders and medically unexplained symptoms can be challenging to
diagnose and treat  it is important to consider possible differential diagnosis in your assessment
• Patients who somatically express psychological disturbances may have a wide variety of psychiatric disorders
and/or medical disease states, apart from somatization disorder or hypocondrial disorder
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o Depression & anxiety disorder  may be exhibited with multiple somatic complaints instead of the
more easily recognised psychological complaints of subjective sadness or panic  anxiety &
depressive disorders are very common in high utilisers of medical care
o Personality disorder  may also complicate the diagnostic evaluation of medically unexplained
symptoms
o Organic conditions  such as MS, SLE or porphyrias may initially present with vague somatic
symptoms which are similar to somatization
o Dissociative (Conversion) disorders  the presence of unconsciously produced symptoms that affect
voluntary sensory or motor functions, suggesting a medical or neurological disorder
o Psychosis or Schizophrenia  rarely patients with these conditions may also present with
hypochondriacal delusions
• NB – medical disorders may coexist with medically unexplained symptoms, but the somatic complaints are
either unexplained by the medical illness or out of proportion to the actual disease state  as a result, an
appropriate medical and psychiatric evaluation is imperative in patients who may exhibit characteristics of
somatisation
Recognise the role and limitations of investigations in medically unexplained symptoms
Develop a structured targeted management plan for an individual patient with medically unexplained symptoms
Explain bio-psycho-social management plan of somatoform disorders to a patient, carer or colleague
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Eating Disorders CP2 Learning Objectives Psychiatry
EATING DISORDERS
Knowledge of epidemiology, aetiology, clinical presentation (including an understanding of the ICD-10 diagnostic
criteria) and prognosis of eating disorders (anorexia nervosa and bulimia nervosa)
• Eating disorders are a severe mental illness that can potentially affect anyone  can often being as a coping
mechanism, offering focus, distraction and achievement
• Due to their escalating nature behaviour become problematic and potentially life threatening  they have
the highest mortality rate among other mental illness
• They affect both sexes, but at present are more common among females  F:M – 10:1
• Most common point of onset is during adolescence
AETIOLOGY
• Biological  research remains unclear and is being developed at present
o Monozygotic twin concordance significantly higher than dizygotic twin
o Neuro/endocrine changes  disturbance of hypothalamic function, increased serotonin level and
brain atrophy
o Changes in brain normalise when weight is restored through regular intake of balance diet
• Psychological
o Perfectionism
o Low self-esteem  weight loss is a sense of achievement
o Sexual development  early development
o History of abuse  sexual, physical, psychological or neglect
o Personality disorder
• Social  possible theories include parental overprotection and family enmeshment  the young person with
anorexia nervosa may be avoiding separation from family or becoming an independent sexual being
ASSESSMENT
• Eating behaviour
o Method of weight loss  diet, exercise, vomiting, medication
o Typical daily intake  fluid & solids
o Relationship with body image  past & present
o Any binge eating and/or compensatory behaviours
• Medical history
o Menstrual history or sexual dysfunction
o Complications of starvation
o Digestive complications
o Known physical illness
• Personal and social history
o Past abuse, physical, sexual, neglect  context to this
o Bullying  nature of this
o Loss of loved one
o Major change in situation  home, school, work, etc…
o Effect of eating behaviour and associated weight loss on elements of social life
▪ Education ▪ Home life
▪ Career ▪ Socialising
▪ Relationships ▪ Hobbies/interests
DSM-5 DIAGNOSTIC CRITERIA

• Anorexia nervosa
o BMI <17.5
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o Persistent restriction of energy intake leading to significantly low body weight
o Either an intense fear of gaining weight or becoming fat, or persistent behaviour that interferes with
weight gain
o Disturbance in the way one’s body weight or shape and weight on self-evaluation, or perisitent lack of
recognition of the seriousness of current low body weight
• Bulimia nervosa
o Recurrent episodes of binge eating  characterised by eating more than most would in a certain
amount of time
o Recurrent inappropriate compensatory behaviour in order to prevent weight gain  such as self-
induced vomiting, misuse of laxatives, diuretics or fasting/excessive exercise
o Binge eating and compensatory behaviours occur at least once a week for 3 months
o Self-evaluation is unduly influenced by body shape and weight
o The disturbance does not occur exclusively during episodes of anorexia nervosa
• Hyperthyroidism  weight loss
• Depression  reduced intake and lack of pleasure from food
• Obsessive Compulsive Disorder  routines, rituals, excessive cleaning and energy expenditure
• Body dysmorphic disorder  refusal to gain weight and extreme dissatisfaction with appearance
• Psychosis  food refusal due to belief that food is poisoned
PROGNOSIS
• Anorexia nervosa
o Slow recovery rates
▪ 1/3 up to 3 years
▪ 2/3 in 3-6yrs
o Recovery less likely >15yrs
o After 10 years
▪ 50% recover
▪ 10% mortality
▪ 40% ongoing eating disorder
o Poor prognosis indicators
▪ Very low eight
▪ Bulimic features
▪ Family difficulties
▪ Personality difficulties
▪ Longer illness duration
• Bulimia nervosa
o 70% recover in 10yrs
o 1% mortality rate
o Poor prognostic indicators
▪ Low body weight
▪ Comorbid depression
Knowledge of the common co-morbidity of eating disorders

• Can present with a previous psychiatric history
o Anxiety
o Depression
o Self-harm
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• Co-morbidity within bulimia nervosa requires careful consideration within management plan as a reduction in
binge/purge behaviour can lead to an increase in other coping mechanisms  eg. alcohol/substance misuse
or self-harm
Knowledge of the physical, psychiatric and social consequences of eating disorders

ANOREXIA NEVOSA
Area Symptom
Hair & skin Hair and skin can become dry & brittle
Hair can thin & drop out
Lanugo hair may grow over skin on face & body
Psychiatric Thinking becomes inflexible, difficult to make a decision
Poor concentration
Obsessions, difficulty being spontaneous
Interest becomes centered around food
Interest in other topics declines
Irritated mood
‘Flattened effect’ with little variance in mood
Cardiac BP drops
HR declines
Increased risk of arrhythmia
Increased risk of heart failure
Bone Osteopenia/Osteoporosis
GU Loss of libido
Reproductive system ceases to function
Amenorrhoea in females
Low testosterone in males
Function will return with weight restoration
Muscles Muscle wastage
Muscle cramp
Feet & ankles Swollen feet & ankles
Cold extremities
Broken skin
Other complications Hypothermia
Infections
Metabolic disturbance  hypoglycaemia/natraemia/kalaemia & vitamin deficiency
Haematological  iron deficiency anaemia, leucopenia
BULIMIA NERVOSA
Area Symptom
Head/CNS Poor concentration
Irritability
Seizure secondary to electrolytes imbalance
Mouth & teeth Tooth decary, erosion
Hoarse voice
Bleeding from mouth or throat
Swollen parotid gland  “chipmunk” face
Cardiac Hypokalaemia  arrhythmia
Abdomen Swollen stomach
Stomach pain
Constipation
Delayed gastric emptying
Oesophageal tears/Oesophagitis
Rectal prolapse
Renal failure/UTI
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Hand Russell sign  callosities, scarring & abrasion on the dorsal surface of index & long finger
Feet & ankles Swollen feet & ankles
Cold extremities
Other complications Dehydration
Electrolyte imbalance
Muscle paralysis
Knowledge of the principles of management of eating disorders

BIOLOGICAL
• Weight restoration is the key
• Input from Specialist Dietician to monitor increased intake and re-feeding syndrome
• Regular weight monitoring  frequency depends on severity
• Regular blood monitoring  frequency depends on severity
o BMI >16  FBC, U&E, LFT & glucose
o BMI <15  above and also phosphate, magnesium, CK, zinc, B12 & folate
• DEXA bone density scan if indicated
• ECG  looking for prolonged QTc, rate <50, heart block or other arrhythmia
• Admission to general medical ward may be required if results of blood tests are severely out of range
PSYCHOLOGICAL
• Specialist services providing psychological therapy, intergrative supportive individualised care plan, a range of
models  CBT, Mindfulness, Arts Pyschotherapy & Congitive Analytical Therapy
• Family therapy (systemic) is commonly used if the patient is under 18yrs
• Evidence suggests therapeutic relationship being the most important factor in recovery
• Formal psychological therapy unlikely to be effective if BMI <13  inpatient admission for specialist
treatment should be considered
SOCIAL
• Advise to inform a loved one for extra support
• Carer support
• Increased flexibility with and participation in social plans and lifestyle goals  such as hobbies or vocation
related goals
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Anxiety Disorders CP2 Learning Objectives Psychiatry
ANXIETY DISORDERS & REACTION TO STRESS AND TRAUMA

Knowledge of the normal psychological and behavioural responses to stress and life events, including grief
• Anxiety is part of the normal emotional range of humans  it is adaptive at lower levels and disabling at
higher levels
• There is a normal physiological response to stressful situations which is the adaptive response to the
experience of threat or danger  characteristic features include a behavioural response which can be escape
or avoidance, the search for safety/reassurance or preparatory vigilance
• There are characteristic physiological features commonly known as the ‘fight or flight’ response, which
amounts to the respiratory, cardiovascular and other changes that prepare for flight from or confrontation of
the danger
• Clinicians must be able to recognise the difference between pathological anxiety and anxiety as a normal
response  it is important to be able to distinguish the difference between what is a symptom versus a
disorder
• The following features distinguish pathological anxiety from more ‘normal’ anxiety:
o Autonomy  no or minimla environmental trigger
o Intensity  exceeds patient’s capacity to bear the discomfort
o Duration  symptoms are persistent
o Behaviour  anxiety impairs functioning and/or results in disabling behaviours  avoidance or safety
behaviours
Knowledge of the epidemiology, aetiology and prognosis of anxiety disorders (generalised anxiety disorder, panic
disorder, phobia, obsessive compulsive disorder, post-traumatic stress disorder) and adjustment disorder
CLASSIFICATION
• Anxiety disorders can be classified as constant or episodic
EPIDEMIOLOGY
• Anxiety disorder are the most prevalent psychiatric disorder  11% in primary care populations often have
more than one anxiety disorder present
Disorder Prevalence
Panic disorder 1.7%
Obsessive Compulsive Disorder (OCD) 2.3%
Post-traumatic Stress Disorder (PTSD) 3.6%
All phobias 8.0%
Generalised Anxiety Disorder (GAD) 2.8%
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Knowledge of clinical presentation, including an understanding of the ICD- 10 diagnostic criteria, of anxiety disorders
and adjustment disorder
• There are both physical and psychological symptoms of anxiety
• Psychological arousal
o Worrying thoughts
o Irritability
o Sensitivity to noise
o Restlessness
o Fearful anticipation
o Poor concentration
• Sleep disturbance  Insomnia or Night
terrors
• Muscle tension  tremors or aches
• Autonomic arousal
o Dry mouth
o Diarrhoea
o Difficulty breathing
o Palpitations
o Chest discomfort
o Frequent and urgent micturition
• Consequences of hyperventilation  dizziness and tingling numbness
GENERALISED ANXIETY DISORDER (GAD)

• Characterised by free-floating anxiety that may fluctuate, but neither situational nor episodic
• “Worrisome”  fear the feature to such an extent that they may behaver overly cautious or risk-averse
• Patients may be “paralysed with fear”
• ICD-10 Criteria
o Generalised and persistent somatic (physical) and psychological symptosm of anxiety on most days
for at least several weeks at a time and usually several months
o Anxiety symptom usually involve elements of
▪ Apprehension
▪ Motor tension
▪ Autonomic overactivity
PANIC DISORDER (EPISODIC PAROXYSMAL ANXIETY)

• Recurrent attacks of severe anxiety (panic) which are not restricted to any particular situation or set of
circumstances, and which are therefore unpredictable
• Symptoms are a sudden crescendo of severe anxiety, associated with intense awareness of threatening bodily
sensations eg. Palpitations, choking, chest pain or dizziness
• Feelings of loss of touch with reality are common and are associated with catastrophic cognitions  eg.
thoughts one might be dying, losing control or going mad
• Panic attacks are short-lived and most last less than 10 mins  they often result in a hurried exit from
wherever the attack took place and future avoidance of the same situation  frequent and unpredictable
panic attacked lead to fear of being alone or going out in public
• Panic attacks can be recucrent (panic disorder) and are often associated with other anxiety disorders
• ICD-10 Criteria
o Several attacks within on month
o In circumstances with no objective danger
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o Not confined to known or predictable situations
o With comparative freedom from anxiety symptoms between attacks
AGORAPHOBIA
• Marked fear or avoidance of crowds, public places, travelling along or travelling away from home  a
common key feature of agoraphobic situations is the lack of an immediate exit
• Symptoms restricted to fearful situations or contemplation of feared situation
• Avoidance is always present
• Can occur with or without panic disorder
• ICD-10 Criteria
o Psychological and autonomic symptoms primarily manifestations of anxiety and not secondary to
other symptoms  such as depression or delusions
o Anxiety must be restricted to at least two of the following  crowds, public places, travelling alone or
travelling away from home
o Avoidance of the phobic situation must be a prominent feature
SOCIAL PHOBIA
• Marked fear of being the focus of attention  embarrassment or humiliation
• Symptoms restricted to fearful situation or contemplation of feared situation
• Common anxiety symptoms
o Blushing or shaking
o Fear of vomiting
o Urgency or fear of micturition
• Avoidance present
• ICD-10 Criteria
o Psychological, behavioural or autonomic symptoms must be primarily manifestations of anxiety and
not secondary to other symptoms  such as delusions or obsessional thoughts
o The anxiety must be restricted to or predominate in particular social situations
o The phobic situation is avoided whenever possible
SPECIFIC (ISOLATED) PHOBIA

• Marked fear of a specific object or situation not included in agoraphobia or social phobia or marked avoidance
of such objects or situations
• Among the most common objects or situations are animals, birds, insects, heights, thunder, flying, small
enclosed spaces, sight of blood or injury, injections, dentists and hospitals
• Symptoms of anxiety or distress due to the symptoms or the avoidance and a recognition that this is excessive
or unreasonable
• Symptoms are restricted to the feared situation or when thinking about it  eg. no symptoms of generalised
anxiety
• ICD-10 Criteria
o Psychological or autonomic symptoms must be primarily manifestations of anxiety and not secondary
to other symptoms  such as delusions or obsessional thoughts
o The anxiety must be restricted to the presence of the particular phobic object or situation
o The phobic situation is avoided whenever possible
OBSESSIVE-COMPULSIVE DISORDER (OCD)

• OCD is a disorder characterised by obsessive symptoms (thoughts, impulses, images) and/or compulsive acts
or rituals  present on most days for at least two weeks  causing distress and interfering with activities
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• Symptoms are common in childhood  at this age it is considered normal
• Mean onset of symptoms to diagnosis is about 9 years  eg. long delay
• Frequently symptoms coexist with
o Schizophrenia o Depression
o Tourette’s Syndrome
• At the severe end of a spectrum of symptoms a patient meets the criteria for a diagnosis of OCD, but with
lesser symptoms may meet the criteria for Anakastic Personality Disorder, especially the symptoms are what
we called ego-syntonic  eg. symptoms do not usually distress the patient
• Obsessions  thoughts, ideas or images which are:
o Acknowledged as excessive or unreasonable
o Repetitive
o Intrusive and resisted by the patient  although the resistance may diminish in chronic OCD
o Unpleasant  eg. the thought gives no pleasure
o Originate in the mind of the patient and are not imposed by outside persons or influence  eg. not
thought insertion
o Cause distress and interfere with functioning
• Compulsions  physical act which is:
o Acknowledge as excessive or unreasonable
o Repetitive
o Intrusive and resisted by the patient  causing mounting anxiety
o Unpleasant  eg. the act itself gives no pleasure, but may relieve tension or anxiety
o The desire to carry out the act originates in the mind of the patient and are not imposed by outside
persons or influences  eg. not a made act arising from psychosis
o Causes distress and interferes with functioning, usually due to wasting time
o Magical thinking can occur  eg. “if I touch this door frame fives, no harm will come to my family”
Knowledge of the common co-morbidity of anxiety disorders

• Anxiety disorders are very common and often co-exist with other anxiety disorders, along with other mental &
physical health disorders  it is important to assess fully and treat any other difficulties
• Consider
o Presence of depressive symptoms  are these causing the anxiety or resulting from it?
o Drug/alcohol misuse  significantly complicates treatment
o Personality disorders
o Anxiety symptoms secondary to organic pathology
• It is also important to consider the impact on an individual’s functioning rather than just the diagnosis
anxiety disorders
Knowledge of the physical, psychiatric and social consequences of anxiety disorders

• Avoidance behaviours  those things you do or avoid doing to manage anxiety
• Safety behaviours  actions were taken to manage anxiety and limit or control the experience
Knowledge of the indications, mechanism of action and side effects of antidepressants and benzodiazepines
• There are a number of medications which are useful for anxiety  but remember first-line treatment of mild-
moderate anxiety should be psychological treatment
• Anti-depressants
o All are anxiolytics  including SSRIs, TCAs and SNRIs
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o Clinician should warn patient about possible brief increase in anxiety in the initial period
o Proven efficacy, particularly in the longer term and in conjunction with psychological treatment
• Benzodiazepines
o Short half-life  Lorazepam
o Longer half-life  Diazepam
o Can be addictive, therefore used mainly in the short-term for acute management of anxiety/panic
disorders  should not be use >4 weeks
o Can reduce the efficacy of psychological treatment
• Beta blockers  sometimes used to reduce HR and autonomic arousal of anxiety
• Anti-psychotics  not routinely used, but can be beneficial in severe cases
Knowledge of the indications, theories and practical implementation of psychological interventions in anxiety disorders
• Psychoeducation  possible component include:
o Definition and nature of illness
o Explaining cycle of anxiety for this diagnosis
o Precipitating and maintaining factors
o Treatment  medication and psychological
o CBT approach
o Social interventions
o Prognosis
• Psychoeducation is process whereby patients (and carers) knowledge and awareness of the illness is improved
 improves understanding and support patients have and receives  this is undertaken usually with support
of trained professionals
• Guided self-help  done by the patient through access to variable resources (eg. books, computers) 
usually this will be guided or facilitated with a trained person to maximize efficacy
• Cognitive behavioural therapy (CBT)  may include different approaches depending on the nature of the
anxiety
o Systematic desensitization or graded exposure  for phobia
o Exposure and response prevention  for OCD
• Graded exposure/systematic desensitiations  main approach/principle behind CBT treatment for anxiety 
it is particularly useful for the psychological treatment of phobias  it involves
o Identifying the fear
o Setting treatment aims in a series of manageable steps (hierarchy) ranging from triggers causing mild
anxiety to more severe anxiety
o Starting with situations causing milder anxiety
o Requires repeated exposure to anxiety causing stimuli
o With repeated and graduated exposure, the anxiety extinguishes with time
o Move up the hierarchy once feeling confident to tackle anxiety
• Exposure and responsive prevention (ERP)  a behavioural technique similar to graded exposure, but more
specific for OCD
• Eye Movement Desensitisation Reprocessing (EMDR)  evidence-based treatment for PTSD  during
therapy, the original trauma is deliberately re-experiences in as much detail as possible (by patient narrating
or imaging every step that happened), while doing this they fix their eyes on the therapist’s finger as it quickly
passes from side to side in front of them  eye movements can be replaced by any alternating left-right
stimulus (eg. tapping left then right hand)
• Other approaches
o Counselling
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o Anxiety management/relaxation techniques
o Social skills training  for social phobia
o Psychodynamic psychotherapy
Knowledge of the indications and practical implementation of social interventions in anxiety disorders
Develop a structured targeted management plan for an individual patient with an anxiety disorder and adjustment
disorder
• NICE suggests a step-care approach in management of anxiety disorder, depending on the severity of the
anxiety disorder
o Step 1  all known and suspected presentations of anxiety
▪ Psychoeducation
▪ Active monitoring
o Step 2  no improvement after education and monitoring
▪ Guided self-help
▪ Low-intensity psychological interventions  primary care psychological services (IAPT)
o Step 3  inadequate response to step 2 interventions or marked functional impairment
▪ High-intensity psychological intervention (CBT)
▪ Drug treatment  primary care
o Step 4  complex treatment-refractory – very marked functional impairment or risk
▪ Referral to secondary care  complex drug or psychological treatment regimes  input from
multi-agency teams
Recognise the psychopathology of anxiety disorders

DEVELOPMENT OF NORMAL FEARS
• Birth to 6 months  loud noises, loss of physical support, rapid position changes and rapidly approaching
other objects
• 7 to 12 years  strangers, looming objects, unexpected objects or unfamiliar people
• 1 to 5 years  strangers, storms, animals, dark, separation from parents, objects, machines, loud noises and
the toilet
• 6 to 12 years  supernatural, bodily inury, disease, burglars, failure, criticism and punishment
• 12 to 18 years  performance in school, peer scrutiny and appearance
ACUTE STRESS REACTION

• A brief response to severely stressful events  lasts for up to 1 month and can occur >3 days and less than 1
month after the event
• Recorded as being experiences by 13% of survivors of motor incidents and 19% of violent crime
• Almost everyone in the world will have experienced an acute stress reaction during their life  those who
seek help from medical professionals are more likely to have a poor pre-existing support network and are
more likely to have pre-existing mental health problems making coping more difficult  these are all risk
factors for the later development of PTSD
• Symptoms
o Include symptoms of anxiety & depression
o Numbness, detachment, poor concentration, derealisation, insomnia, restlessness, anger and
autonomic symptoms
o Patient may already be using coping strategies  avoidance of talking or thinking about the event,
denial of events/not being able to remember
o Unhelpful strategies, such as alcohol excess are also common
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• Management
o Reduce emotional response  talking to friends/family or professionals
o Encouraging, but not forcing recall  debriefing
o Learning effective coping skills
o Anxiolytic only if severe anxiety  beware of addictive potential of benzodiazepines
o Hypnotics if severe sleep disturbance
• The vast majority go on to get better with no intervention or formal diagnosis  of those who get formally
diagnosed, 78% go on to develop PTSD
ADJUSTMENT DISORDER
• Psychological reaction to adapting to a new set of circumstances  eg. new job/home, divorce, etc.
• Starts within 3 months and must be understandably related to and in proportion to the stressful event
• These criteria are often met when in response to bereavement, the onset of terminal illness or sexual assault
and medicalisation of these circumstances is avoided where possible
• Symptoms
o Symptoms of anxiety, worry, depression & irritability
o Physical symptoms caused by autonomic arousal  palpitations and tremor
o Occasional outburst of dramatic or aggressive behaviour
o Sometimes abuse of alcohol or drugs  threshold is often reached for a comorbid alcohol
dependence syndrome
o Social functioning impaired
o Onset more gradual than acute stress reaction  it takes a more prolonged course
• Management
o If possible, help resolve the change of circumstances  eg. support to make changes at work or put
in touch with support groups when dealing with personal difficulties/illness
o Help the natural process of adjustment, prevent avoidance & denial, encourage problem-solving to
seek solutions and assess +/- of various courses of action
o Relieve anxiety by encouraging to talk and express associated feelings
o Consider referring for talking therapy in primary care if the patient wishes for this
• Most last a few month, with some lasting a few years  adults generally do well, but adolescents with an
adjustment disorder have an increased risk of developing psychiatric illness is adult life
BEREAVEMENT
• The duration of a ‘normal’ grief reaction varies depending on the circumstances of loss, the individuals
involved and their pre-existing physical and emotional wellbeing  along with the culture the patient
identifies themselves with
• Bereavement is not usually diagnosed as a medical issue unless it has gone on for a significant period of time
(>6 months) and is significantly affecting the person’s relationships and ability to function
• Symptoms usually resolve gradually within 6 months
o Poor energy
o Low mood
o Lack of enjoyment
o Disturbed sleep & appetite
o Symptoms of anxiety
• However, abnormal grief can be indicated if the below symptoms are present:
o Guilt about things other than actions taken or not taken by the survivor at the time of the death
o Thoughts of death other than the survivor feeling that he or should would be better off dead or
should have died with the deceased person
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o Morbid preoccupation with worthlessness
o Significant psychomotor retardation  eg. its hard to get moving and movements there are slow
o Prolonged and serious functional impairment
o Hallucinatory experiences other than thinking that he or she hears the voice of, or transiently sees the
image of, the deceased person
POST-TRAUMATIC STRESS DISORDER (PTSD)

• PTSD is a delayed or protracted response to a stressful event or situation of an exceptionally threatening or
catastrophic nature  likely to cause pervasive distress in almost anyone
• Examples  natural disasters, combat, witnessing or being involved in a serious accident or being the victim
of torture or rape
• The onset of symptoms follows the trauma usually with a latency period of a few weeks to months, but rarely
exceeds 6 months  symptoms must persist beyond 6 months after the event
• PTSD symptoms sometimes arise much later in life  sometimes decades after the index trauma, often
because of a more minor secondary trauma that reactivates older memories
• Prevalence variable for events  usually stated as 5-10% lifetime prevalence  female victims of domestic
violence up to 45%
• More common if internal perceived controle  eg. if the traumatic event was causes by someone or could
have been prevented rather than an act of nature
• Symptoms
o Core triad
▪ Hyperarousal  persistent anxiety, irritability, insomnia, poor concentration
▪ Re-experiencing  ‘flashbacks’, recurrent distressing dreams, inability to recall stressful
events at will
▪ Avoidance  of reminders of event, detachment, numbness or loss of interest in activities
o Depressive & guilt symptoms common
o Substance use as a coping strategy common
o Symptoms may begin quickly after  rarely >6 months after
• Management
o Psychological treatment  psychoeducation, CBT or EMDR
o Biological  anti-depressants (SSRI)
o Social  educated family, support in reintegration to the environment & avoid alcohol
• Around 50% recover within the 1st year  poorer prognosis is co-morbid mental illness, long duration, hx of
psychiatric illness, FHx of mental illness, poor social support or pre-morbid functioning or outstanding
compensation claims  around 80% of soldier return to active service after treatment for PTSD
Produce differential diagnoses for patient with anxiety symptoms

• Endocrine • Neurological
o Thyroid dysfunction o Seizures
o Phaepchromocytoma o Vestibular dysfunction
• Metabolic • Cardiac  arrhythmias (SVT)
o Acidosis  eg. diabetic ketoacidosis • Drug withdrawal  alcohol or opiates
o Hyperthermia or hypothermia • Drug intoxication
• Hypoxia o Caffeine
o Congestive Heart Failure o Amphetamine
o Angina o Cocaine
o COPD o New psychoactive substances 
o Anaemia “legal high”
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Psychotherapy CP2 Learning Objectives Psychiatry
PSYCHOTHERAPY
Basic knowledge of the indications, theories and practical implementation of psychological interventions
• Psychotherapy is an umbrella term that includes a range of talking therapies  it is defined as “a treatment
by psychological means of problems of an emotional nature in which a trained person deliberately establishes
a professional relationship with the patient with the object of:
o Removing, modifying or retarding existing symptoms
o Mediating disturbed patterns of behaviour
o Promoting personal growth and development
• Talking therapies involve the employment of a range of techniques based on relationship building, dialogue,
communication and behaviour change designed to improve the mental health of an individual patient or
group  the focus of therapy may be on an individual or for a family or group
• Some therapies focus on the here & now and behavioural change (CBT), while other focus on past events and
their impact on current behaviour (psychodynamic therapy)
• All talking therapies share some common characteristics
o Non-judgmental, positive regard for the patient where they can feel safe and supported
o Building a therapeutic relationship between therapist and patient
o Confidentiality is integral to therapeutic relationship  except when safety concerns demand breach
of confidentiality
o Supervision of therapist  where they can discuss issues arising from the therapy
• A degree of motivation to change and the ability to see a link between psychological factors and behavioural
change (psychological mindness) is, therefore, a key element and a common factor across all forms of talking
therapies
PSYCHODYNAMIC PSYCHOTHERAPY
• Sigmund Freund is widely considered to be the founding father of the psychodynamic approach to therapy
• He introduced the idea that early childhood experiences (even as an infant) played a critical role in shaping
people’s experiences in later life
• Freud’s psychoanalysis was the original psychodynamic theory, but the psychodynamic approach as a whole
includes other theories based on his ideas  such as those of Jung, Erikson and Melanie Klein
• According to psychodynamic theory, our feelings and behaviours are influenced by unconscious motives that
are the result of early childhood experiences
• It is very different from CBT where feelings and behaviours are considered to derive from thoughts and core
beliefs
• Freud postulated that diving into the unconscious mind could offer a window into one’s early childhood,
which in turn could help explain current feelings & behaviours
• There were several ways to look into the unconscious mind:
o Dream analysis
o Free association  classic image of therapy  allows the unconscious to bypass the censorship
exercised by the superego (conscious)
o Slips of the tongue  unconscious mind trying to make itself heard
o Transference & Counter-transference
▪ In the process of establishing a therapeutic relationship, the therapist and the patient bring;
unconsciously, their own beliefs, values, previous experiences to the interaction
▪ Analysis of this interaction then can offer another window into the unconscious
▪ The unconscious redirection of one’s feelings from those towards significant others in one’s
childhood to the therapist is called transference
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▪ The process of the therapist transposing their feelings that may have been held for significant
others in their childhood to the patient is called counter-transference
▪ At a basic level, being aware of the feelings generated in oneself during therapy can be useful
clinical information
• The main task of psychodynamic therapy is to establish a therapeutic relationship (psychodynamic triad) with
the patient that helps draw links between
o Patient’s early childhood experiences  including early trauma
o Defence mechanisms
o Current symptoms
DEFENCE MECHANISMS
• These can be viewed as coping mechanisms that the individual develops to negotiate conflicts/traumas
encountered in early childhood
• Some defence mechanisms are mature  others are neurotic or less mature
• Mature defence mechanisms
o Altruism  deal with stress or conflict though devotion to charitable endeavours to help others
o Anticipation  anticipate possible adverse events and prepare for them
o Humour  deal with stress by seeing the lighter side
o Sublimation  channel potentially maladaptive impulses into socially acceptable behaviour  eg.
competitive sports channeling aggression
o Suppression  distracts oneself to avoid thinking about stressor
o Affiliation  seek support from others
• Neurotic defence mechanisms
o Displacement  transfer negative feelings about one person to another
o Externalisation  blame others
o Intellectualisation  avoid painful emotions, but getting stuck on details
o Repression  dispel disturbing thoughts/feelings from consciousness (unconsciously)
o Reaction formation  express the unconscious unacceptable impulse in the opposite  more
acceptable form
• Primitive defence mechanisms
o Denial  refuse to acknowledge some aspect of reality
o Autistic fantasy  day-dreaming to avoid reality
o Passive-aggressive  expressing hostility without being openly aggressive
o Acting out  engage in inappropriate behaviour without consideration of consequence
o Splitting  black or white thinking
o Projection  falsely attribute unacceptable feelings to others
Aware different settings and modalities of psychotherapy

PSYCHOANALYSIS
• Quite rigorous
• 3-5 times/week
• 50-60 mins/session
• Expensive and time-intensive
• Patients need to be able to tolerate intensive self-reflection and not become dependent or impulsive
• Focus is on developing insight through clarification and interpretation of unconscious conflict
• Indicated for long-term personality difficulties
PSYCHODYNAMIC THERAPY
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• Also called insight oriented psychotherapy
• 1-2 sessions/week
• 50-60 mins/session
• Can last 1-2 years but brief psychodynamic therapy only 14-20 sessions
• Less focus on unconscious conflicts – more focus on defence mechanisms and link with current symptoms
• Indicated in the treatment of personality disorders, certain cases of mood and anxiety disorders especially
when co-morbid personality difficulties present
DIALECTICAL BEHAVIOURAL THERAPY (BDT)

• Recommended by NICE guidance for the treatment of emotionally unstable personality disorder
• DBT aims to help people manage difficult emotions by letting them experience, recognise and accept them.
This model says that, with acceptance, people become more able to change damaging behaviours
• A course of DBT typically lasts for about a year and has 4 elements
o Individual therapy – weekly 1-1 therapy with a DBT therapist lasting about an hour
o Skills training in groups – focussing on developing practical skills (tolerating distress, managing
personal relationship issues, mindfulness)
o Telephone crisis coaching – gives service receivers telephone contact with their therapist outside of
therapy sessions
o Therapists’ consultation groups – members of the team of people providing DBT may meet together
weekly to discuss issues that have come up in treatment sessions
• Although DBT is based on CBT, it better meets the needs of people who experience particularly intense
emotional responses
• Like CBT, DBT focuses on changing unhelpful behaviours. However, while CBT enables the challenging of
unhelpful thoughts, DBT allows acceptance of the whole person – including those thoughts.
• In DBT, the relationship between the service user and the DBT therapist is key. This relationship is used to
actively motivate change
PROBLEM SOLVING THERAPY

• Provided mainly by primary-care based counsellors
• Involves step-wise approach
o Elicit practical problems
o Explain emotional symptoms
o Reassure
o Clarify the problem and collaboratively identify possible solutions
o Patient chooses most likely solution
o Review and repeat as necessary
INTERPERSONAL THERAPY (IPT)

• Based on the hypothesis that disorders (depression) can be explained as disorders arising from interpersonal
relationship difficulties
• Using principles of active listening, empathy, facilitation of emotional expression in the context of
interpersonal relationships  the patient is encouraged to reframe and rebuild their relationship
SUPPORTIVE THERAPY
• Based on Carl Rogers’ principles of person-centred therapy
o Empathy
o Unconditional positive regard
o Genuineness
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• The aim of supportive therapy is to:
o Actively listen to patient’s concerns o Identify and utilise patient’s strengths
o Develop therapeutic relationship o Promote self-management
o Allow ventilation of emotions o Involve and support carers
FAMILY THERAPY
• Focuses on the “system” rather than the individual hence the focus on the family
• Allows multiple perspectives to emerge
• Can have individual/family sessions
• Though used primarily in CAMHS  also effective in other settings
Able to explain basic Cognitive Behavioural Therapy (CBT)

• Cognitive  refers to mental processes like thinking  dreams, memories, images, thoughts and attention
are all cognitive processes
• Behaviour  refers to all the things we do (actions and inaction)
• The premise of CBT is that you feel the way you think  it is
about finding the cognitions that link the events and the
emotional reactions  the kind of thought had can influence
the way feel and hence behave
• CBT has been well-researched and there is evidence for its
effectiveness as standalone treatment for:
o Depression
o Anxiety disorders  GAD, OCG PTSD & phobias
o Adjunct for
▪ Schizophrenia
▪ Bipolar disorder
• It uses the ABC analysis
o Antecedent  you have an exam coming up
o Belief  I could fail. This could ruin my career. I have better get this right.
o Consequences  experience of anxiety, fear (emotion), diarrhea (increased autonomic activity),
decision to drink alcohol (maladaptive behaviour), decision to take a break and go for a swim
(adaptive behaviour)
• The ‘hot cross bun’ diagram is often used in CBT to
demonstrate the way in which changes in cognition can lead
to changes in emotions, bodily sensations and behaviour 
equally, changes to bodily sensations can also lead to changes
in our thoughts, emotions and behaviour, and so on
• Sources of CBT  CBT therapists are mainly based in primary
care  however, computersied CBT, self-help books and
phone apps are also available
• Initial sessions are spent building a therapeutic relationship
 the model and rationale is explained so the patient has a
good understanding  the therapist and patient may spend
time analyzing events using the ABC model together
• Ongoing sessions
o Session tend to take place weekly or fortnightly
o Sessions tend to last 50-60 minutes
o Patients are expected to complete homework between sessions
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o Patients need to be able to write or otherwise record their thoughts, feelings and behaviours
o The focus is on challenging and correcting cognitive errors and replacing maladaptive with more
adaptive coping mechanisms
Cognitive error Example
Arbitrary inference My girlfriend is out, she might be enjoying herself with someone else.
Overgeneralisation I missed the bus this morning. I am always late and I am so hopeless.
Selective Although Tom said he likes me, he did say once that he did not like the dress I was wearing
abstraction that day, which means Tom does not like me like how he says.
Magnification If I do not submit this assignment today then the lecturer will think I am completely useless.
Minimisation Lecturer said that “well done” only because she was in a good mood.
Personalisation My team did not get a prize in the quiz. It's all my fault – I am the one to blame.
Dichotomous If I do not get an “A” in class, that means I have failed.

thinking
• Typically, a CBT therapist will ask the patient to record a brief description of the following in a table
o The triggering event
o The automatic thought that follows  verbatim
o The feelings generated and the intensity of those feelings
o The behavioural responses
o The cognitive errors involved
o Any challenges to those cognitive errors
• The therapist and patient work as co-investigators choosing a belief to challenge, and brainstorm various ways in
which the belief can be challenged through an experiment  it helps to start with an easier experiment to ensure
its success, and it is important to record the patient’s thoughts/beliefs about what they think is likely to happen
EXPLAINING CBT
• Check prior knowledge/experience of CBT
• Explain why CBT is being considered (its effectiveness) to instil hope
• Explain the mechanism of action  relating specifically to the symptoms that your patient is experiencing 
the hot cross bun diagram may help, as will the chart of cognitive errors
• Explain the process  the number/time of sessions, location and need for homework
• Mention possible side effects  such as increased agitation, restlessness, etc…
• Explain whether medications need to continue concurrently
• Explain what might happen once therapy ends or if therapy is not successful
• Check understanding
• Signpost to self-help resources  eg. Royal College of Psychiatrists’ leaflets
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Personality Disorders CP2 Learning Objectives Psychiatry
PERSONALITY DISORDERS
Knowledge of the epidemiology, aetiology and prognosis of common personality disorders
• Personality may be thought of as a set of consistent thoughts, feelings and behaviours shown across time in a
variety of settings
• There is a very arbitrary distinction between a disordered personality or unhelpful personality traits and a
threshold personality disorder
• The hallmarks of a problem caused by dysfunctional personality are
o Pervasive  occurs in all/most areas of life
o Persistent  evidence from adolescence and continues into adulthood
o Pathological  causes distress to self or others  impairs function (occupation/social/relationships)
• These hallmarks recognise that personality is generally thought to develop during childhood and adolescence
and, if a problem is rooted in the personality  there should be evidence of its presence reahing back to
these developmental stages  also emphasise the importance of functional impairment and/or distress for
the subject
AETIOLOGY
• Genetics  studies suggest that there may be a genetic component  one review concluded that “all to 10
personality disorders (PDs) classifies on the DSM-5 are modestly to moderately heritable
• Childhood temperament  temperament can be defined as a person’s innate and biologically shaped basic
disposition to an emotional response and is thought to manifest from birth onwards
• Childhood experience  there would appear to be a link between experiencing neglect, trauma or abuse in
childhood and developing a personality disorder  this is particularly common in emotionally unstable PD
(EUPD)
• Neurochemical imbalance  links have been made between impulsive behaviour/aggression and serotonin
 this may explain some of the links between genetics and PD and why they are heritable to an extend
EPIDEMIOLOGY
Setting Prevalence of PD Predominant Cluster
Epidemiological community survery 10% -
Primary care 20% C
Psychiatric outpatients 30% B
Psychiatric inpatietns 40% B
Prison 50% B
PROGNOSIS
• Personality disorder (particular cluster B) appear to be linked with a higher rate of suicide  this is likely to be
a result of the impulsivity and emotional instability seen in those with PD
• It is also observed that cluster B disorders seem to be less common with increasing age  this may reflect the
fact that some of the characteristics (eg. impulsivity) naturally diminish with age  whether or not the
underlying PD has disappeared is more difficult to say, but the patient’s presentation may change so that they
no longer meet the diagnostic criteria
Knowledge of clinical presentation, including an understanding of the ICD- 10 diagnostic criteria, of personality disorders
• The clinical assessment of a patient with a personality disorder has much in common with the assessment of
any other psychiatric patient  however, there are some particular areas you may wish to pay more
attention to or explore further in their history  eg. ‘before this, what kind of person were you?’
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• There are 3 classifications of personality disorder
o Cluster A  odd & eccentric
▪ Schizoid
▪ Paranoid
▪ Schizotypal
o Cluster B  dramatic & emotional
▪ Antisocial  Dissocial
▪ Histrionic
▪ Borderline  EUPD
▪ Narcissistic
o Cluster C  anxious & fearful
▪ Obsessive compulsive  anankastic
▪ Anxious (avoidant)
▪ Dependent
PARANOID PERSONALITY DISORDER

• SUSPECT
o Sensitive
o Unforgiving
o Suspicious
o Possessive & jealous of partners
o Excessive self-importance
o Conspiracy theories
o Tenacious sense of rights
SCHIZOID PERSONALITY DISORDER

• ALL ALONE
o Anhedonic
o Limited emotional range
o Little sexual interest
o Apparent indifference to praise or criticism
o Lack of close relationships
o One-player activities
o Normal social conventions ignored
o Excessive fantasy world
DISSOCIAL PERSONALITY DISORDER

• FIGHTS
o Forms, but cannot maintain relationships
o Irresponsible
o Guiltless
o Heartless
o Temper easily lost
o Someone else’s fault
EMOTIONALLY UNSTABLE PERSONALITY DISORDER (EUPD)

• There are two types of EUPD
o Borderline  SCARS
▪ Self-image unclear
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▪ Chronic “empty” feelings
▪ Abandonment fears
▪ Relationships are intense and unstable
▪ Suicide attempts and self-harm
▪ Occasionally experience fleeting psychotic features  pseudohallucinations
o Impulsive  LOSE IT
▪ Lacks impulse control
▪ Outbursts or threats of violence
▪ Sensitivity to being criticised or let down
▪ Emotional instability
▪ Inability to plan ahead
▪ Thoughtless of consequences
• Common features of both types
o Affective instability
o Explosive behaviours
o Impulsive
o Outbursts of anger
o Unable to plan or consider consequence
HISTRIONIC PERSONALITY DISORDER

• ACTORS
o Attention seeking
o Concerned with own appearance
o Theatrical
o Open to suggestion
o Racy and seductive
o Shallow affect
ANAKASTIC PERSONALITY DISORDER

• DETAILED
o Doubtful
o Excessive detail
o Tasks not completed
o Adheres to rules
o Inflexible
o Likes own way
o Excludes pleasure & relationships
o Dominated by intrusive thoughts
ANXIOUS/AVOIDANT PERSONALITY DISORDER

• AFRAID
o Avoid social contact
o Fears rejection/criticism
o Restricted lifestyle
o Apprehensive
o Inferiority
o Doesn’t get involved unless sure of acceptance
DEPENDENT PERSONALITY DISORDER

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• SUFFER
o Subordinate
o Undemanding
o Feels helpless when alone
o Fears abandonment
o Encourages others to take decisions
o Reassurance needed
Knowledge of the common co-morbidity of personality disorders

• Anxiety disorder  especially cluster C personality disorder
• Depression  particularly difficult to spot in EUPD, where it can easily be mistaken for emotional lability or
ignored because mood problems are assumed to be a consequence of emotional lability
• PTSD
• Substance misuse & alcoholism
• Adjustment disorder/stress reaction
Knowledge of the physical, psychiatric and social consequences of personality disorders including stigma
Knowledge of the indications and limitations of psychiatric medications in personality disorders
Knowledge of the indications, theories and practical implementation of psychological interventions in personality
disorders
Knowledge of the indications and practical implementation of social interventions in personality disorders
Develop a structured targeted management plan for an individual patient with a personality disorder
• Patients with a personality disorder can be challenging to manage  they provoke strong, often negative
reactions in other people including healthcare professionals
• Short term management
o Consider ongoing risks  self-harm
o Consider comorbidities  eg. other mental health problems
o Carry out a risk assessment
• Long term management  main long term strategies are talking therapies in an outpatient setting
o Cognitive behavioural therapy
o Dialectical behavioural therapy
o Cognitive analytical therapy
o Therapeutic communities  distress-tolerance techniques – group therapy
• Overall, the long term management of PD is a specialist area  treatment is not expected to be initiated by a
junior doctor, but it is important to educate patients about their diagnosis and signpost to most appropriate
specialist
• The place of medication in the treatment of PD is controversial  NICE do not recommend pharmacological
treatment for EUPD or dissocial PD  however, medication can be used to address complicating comorbid
problems (mood disorders, psychosis or ADHD), but is often “off licence”
• Examples of drug treatment
o Anti-psychotics  for transient psychotic experiences, reduction of impulsivity and agitation
o Anti-depressants  for comorbid illness, such as anxiety and depression  be aware of increased
suicide risk
o Mood stabilisers  for mood instability
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Recognise psychopathologies in personality disorders in a clinical interview
Give a list of relevant differential diagnoses in patient symptoms of personality difficulties
Explain the aetiology, bio-psycho-social management plan and prognosis for personality disorders to a patient, carer or
colleague
Carry out a clinical risk assessment on a patient with a personality disorder
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Alcohol & Substance Misuse CP2 Learning Objectives Psychiatry
ALCOHOL & SUBSTANCE MISUSE

Knowledge of the recommended limit of alcohol consumption
Knowledge of the mechanisms of action and effects of commonly used illicit drugs
ILLICIT SUBSTANCES
• Opiates  have a potent analgesic property, but can also cause euphoria & sedation  examples – heroin,
morphine, opium, methadone, dipipanone and pethidine
• Depressants  substances that suppress CNS activity causing relief from anxiety  most common is alcohol,
but other examples are cannabis, barbiturates and benzodiazepines
• Stimulatns  act on the CNS and are associated with feelings of extreme well-being, increased mental and
motor activity  examples – cocaine, crack cocaine, amphetamines and MDMA
• Hallucinogens  heterogenous group of natural and synthetic substances, which produce altered sensory and
perceptual experiences  examples – cannabis, LSD, PCP, ketamine and magic mushrooms (psilocybin)
HEROIN
• Derived from morphine, which is extracted from the opium poppy
• It is a very strong painkiller and give the user a feeling of warmth, sedation and well-being
• It is sold as a brown or white powder in “wraps” costing £50-100/g
• A typical dependent user will use 0.25g-2.0g/24hrs
• It is a Class A illicit drug
• It is most commonly smoked, but may users progress to IV use  it can be orally or inhaled
• Mechanism of action
o Crosses the BBB and acts as a powerful agonist at the mu receptor
o Binding inhibits the release of GABA from the nerve terminal, reducing inhibitory effect of GABA on
dopaminergic neurones
o Results in the increased release of dopamine into synaptic cleft and continued activation of
dopaminergic reward pathway leading to feelings of euphoria
COCAINE
• The mild euphoriant effects of chewing the leaves of the coca shrub have been recognised in South America
for thousands of years
• However, in its refined form cocaine is a potent and highly addictive stimulant drug
• The user typically feels a greatly elevated sense of well-being, alertness, energy and confidence.
• Signs of cocaine use include pupil dilation
• It can be associated with aggression and risk taking behaviour
• Cocaine is a Class A drug
• Cocaine undergoes rapid first-pass hepatic metabolism, so it is not usually consumed orally
• Cocaine hydrochloride is a refined white powder, which is usually taken by inhalation, but may also be
dissolved or injected
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• Crack cocaine is a form of cocaine that can be smoked  it is usually sold in crystal forms (rocks)  the
rapidity of onset of action and peak blood levels are similar to those for IV use
• The stimulant effects of cocaine are relatively short-lived and last for only 20-30mins  typically when the
effects begin to diminish there is a strong craving to take more
• Acute harmful effects
o Cardiovascular effects  tachycardia, hypertension and generalised vasoconstriction
o These effects increase the risk of CVA, MI & cardiac arrhythmias
o It may also cause acute anxiety, panic attacks, impaired judgement and impulsivity
• Chronic harmful effects
o Necrosis of nasal septum and sinuses
o CKD secondary to hypertension
o Use in pregnancy  increased risk of miscarriage and placental abruption
o Psychiatric complications  panic disorder, generalised anxiety & psychosis
• When cocaine is used regularly for a prolonged period tolerance and dependence may occur  abrupt
cessation of cocaine use in dependent users leads to withdrawal symptoms (not medically serious)
• Typical withdrawal symptoms  usually resolve in less than a fortnight
o Dysphoria & anxiety
o Fatigue & difficulty concentrating
o Craving for cocaine
o Muscle aches & tremors
CANNABIS
• Cannabis is the most widely used illegal drug in the UK  it is produced from the dried leaves, seeds and
stems of the weed Cannabis Sativa  the active chemical in cannabis is tetrahydrocannabinol (THC)
• THC causes the user to feel very relaxed and happy  it can also cause the person to hallucinate  therefore,
cannabis is categorised as a depressant and a hallucinogen.
• Skunk is a slang term that is used to refer to stronger forms of cannabis that contain a higher concentration of
THC.
• Cannabis is a Class B drug
• Cannabis is distributed as a herbal material as a resin or as cannabis oil  the majority of users smoke
cannabis often after combining it with tobacco  it can also be eaten directly or incorporated into other
foodstuffs
• The effects of consumption are apparent within minutes if it is smoked, peaking at 30mins and lasting 2-5hrs
• The onset of action of orally consumed cannabis is slower and the effect is more prolonged
o THC binds and activates the cannabinoid CB1 receptors on pre-synaptic nerve terminals in the brain
o CB1 receptors are distributed in parts of the brain associated with memory, concentration, time
perception, coordination and executive functioning
• Physical effects
o Increased heart rate
o Dizziness
o Increased appetite
o Increased risk of respiratory disease and other smoking-related pathology
• Psychological effects  cannabis use may provoke acute anxiety and panic attacks some users may develop
acute psychotic symptoms
• Chronic harmful use may cause dysthymia, reduced motivation and anxiety disorders
• There is sufficient evidence to show that those who use cannabis particularly at a younger age around have a
a significantly higher than average risk of developing schizophrenia  studies show this effect is dose-related
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MDMA
• 3,4-methylenedioxy-methamphetamine (MDMA) is a synthetic drug that alters mood and
perception producing feelings of increased energy, pleasure, emotional warmth, and distortions in sensory
and time perception
• Users describe feeling euphoric and "in tune" with their surroundings and having increased feelings of
affection for others around them
• It has structural similarities to both amphetamine and mescaline  therefore categorised as both a stimulant
and a hallucinogen.
• MDMA is a Class A drug
• MDMA is almost always taken orally  it is usually sold in tablet form, although crystal and powder
preparation are increasingly being distributed  the half-life of MDMA is approx. 7hrs
o MDMA has effects on the serotonergic, noradrenergic and dopaminergic systems in the CNS
o It is thought that the physical and psychological effects of MDMA are primarily due to its action on
serotonin
o It causes serotonin release  also blocks its reuptake from the synaptic cleft
o Jaw clenching and teeth grinding
o Nausea
o Blurred vision
o Increased body temperature  potentially leading to dehydration
o “Come down” effects begin 12-48hrs after consumption  includes fatigue and depression
o Chronic users develop tolerance to MDMA, but dependence syndrome does not occur
o Depression and anxiety are associated with chronic use
LSD
• Lysergic acid diethylamide (LSD)  initially synthesised and "accidentally" ingested in 1944 by Albert Hofman
in Switzerland  it also occurs naturally in the seeds of the Morning Glory Plant
• Typically the user experiences a sense of euphoria, detachment and "a sense of novelty in the familiar and a
sense of wonder at the normal"
• Perceptual distortions may occur in all sensory modalities and synasthesia (a stimulus usually perceived in one
sensory modality is experienced in another e.g. "tasting colours", "seeing sounds"
• LSD is a Class A drug
• LSD is very soluble  it is sold either impregnated onto paper, as a powder or in tablet form
o LSD is an indolealkylamine and is structurally very similar to the serotonin molecule
o It acts as an agonist on most the serotonin receptor subtypes in the brain
o It also has indirect effects on the dopaminergic pathways
o Dilated pupils, tachycardia and hypertension
o Acute intoxication can be associated with perceptual distortion and high-risk behaviour  eg.
believing one can fly
o A “bad trip” may be associated with terrifying delusions and hallucinations
o LSD is not known to be associated with physiological dependence or withdrawal
608
o Regular use can cause long-term psychiatric complications  including chronic psychotic illnesses and
depressive and anxiety disorders
BENZODIAZEPINES
• Benzodiazepines may be legitimately prescribed and are used in clinical practice as anxiolytics and anti-
convulsants.
• The potential for individuals to abuse and become dependent on benzodiazepines was first noted in the
1980s.
• All benzodiazepines produce a feeling of euphoria and a marked reduction in anxiety.
• Specific benzodiazepines include: Diazepam, Lorazepam, Clonazepam, Midazolam, Temazepam and
Oxazepam.
• It is essential that benzodiazepines should only be prescribed if considered essential. Prescriptions should be
at the lowest therapeutic dose, short-term and the patient kept under regular review for signs of addiction or
dependence.
• Benzodiazepines may be taken orally as tablet  less commonly they are given via IM or IV injection
• Mechanism of action  potentiate the effects of GABA at the GABAa receptor
o Intoxication
o Drowsiness
o Dizziness & blurred vision
o Impaired concentration
o Impaired coordination  falls & driving risk
o Hypotension & respiratory depression may occur in OD or IV use
o Impaired memory and concentration
o Depression
o Tolerance & dependence occur within 3-6 weeks of regular use
o Dependence is associated with a very unpleasant withdrawal syndrome characterised by agitation,
anxiety & insomnia
o Withdrawal may be complicated by seizures, delirium & psychosis
o Withdrawal often requires medical management and may be fatal
NEW PSYCHOACTIVE SUBSTANCES

• New Psychoactive Substances (NPS)  often referred to as “legal highs” are heterogenous group of plant-
based and synthetic substances that mimic the effects of more established illicit substances, such as cocaine,
cannabis & MDMA
• The legislation relating to these substances under the Psychoactive Substances Act has been updated recently
 Spring 2016
Knowledge of the epidemiology, aetiology and prognosis of substance misuse (alcohol and illicit drugs)
EPIDEMIOLOGY
• Approximately 93% of men and 87% of women in the UK drink alcohol
• More than 9 million people in England regularly drink more than the recommended daily limits
• Younger people tend to drink more heavily  exceeding 8 units for men and 6 units for women  on a single
occasion than older people
• Older people tend to drink more frequently than younger people
Proportion of adults who drink alcohol every day
Age (yrs) % drinking daily
609
16-25 1%
25-44 4%
65+ 13%
• It is estimated that approximately 9% of UK adult men and 4% of UK adult women are dependent on alcohol
• 65% of hospital admissions due to alcohol related diseases, injuries and conditions are men
• In 2013 there were 6,592 alcohol-related deaths  this is a 10% increase compared to 2003 (5,984)
• The most common cause of alcohol-related death is alcoholic liver disease
• Alcoholic liver disease is one of the few major causes of premature mortality that is increasing
• In the UK, between 2012 and 2013, there were 1,008,850 hospital admissions related to alcohol consumption
where an alcohol-related disease, injury or condition was the primary reason for hospital admission or a
secondary diagnosis
• Alcohol is estimated to cost the NHS £3.5 billion per year. This is equal to £120 for every tax payer
• The estimated cost of alcohol harm to society is £21 billion per year
• One fifth of all violent incidents in 2013-2014 took place in or around a pub or club
• Alcohol was a particularly relevant factor in violent incidents between strangers, 64% of which were perceived
to be alcohol related
• Drink driving accounts for approximately 1 in 6 road accident deaths
• In 2013 39% of school sc (aged 11-15) said that they had drunk alcohol at least once
• The number of alcohol-related hospital admissions of 15 to 24 yea24-year-olde patients increased by 76%
from 15,233 in 2002 to 26,908 in 2012
• Approximately 1 in 10 boys and 1 in 8 girls aged 15-16 reported having unsafe sex after drinking alcohol
• Almost half the young people excluded from school drink alcohol regularly
AETIOLOGY
• Biological
o Epidemiological studies indicate that genes play a role in determining a person's risk of developing an
alcohol misuse disorder
o First degree relatives of alcohol-dependent persons have around seven times the risk of developing
alcohol problems themselves
o Children of alcohol-dependent parents have an increased risk of development of alcohol misuse
problems themselves even when adopted into families without alcohol problems
o No specific causative genes for alcohol misuse have been identified
o Genetic factors also determine a person's capacity to metabolise alcohol eg., many South-east
Asian people have a relatively inactive form of the aldehyde dehydrogenase enzyme leading to an
accumulation of acetaldehyde causing an unpleasant flushing reaction when they drink alcohol
• Psychological
o Mental illness increases an individual’s risk of developing an alcohol or substance misuse disorder
o Stress, high social anxiety levels and low self-esteem are particularly associated with alcohol misuse
o Psychological theories of negative and positive reinforcement can be applied to alcohol misuse
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• Social/Occupational
o Heavy drinking is more common in men, but has increased among women over the last two decades
o Alcohol-related mortality is considerably higher among the more deprived socio-economic classes
o The price of alcohol is one of the most influential factors affecting demand and consumption 
alcohol was 61% more affordable in 2013 as compared to 1980
o Other social risk factor include  social isolation and loss of spouse
o Certain professions are associated with an increased risk of alcohol misuse  these include
bartending and farming
o Medicine attracts a high proportion of high-achieving, perfectionistic and compulsive individuals who
derive a strong sense of their self-worth from their work
o Many jobs in the healthcare system can be highly stressful with unsociable working hours  this
combination of factors may increase the potential for healthcare professionals to develop alcohol and
illicit substance misuse disorders
Knowledge of clinical presentation, including an understanding of the ICD- 10 diagnostic criteria, of substance misuse
(intoxication, withdrawal state, harmful use and dependence syndrome)
611
Knowledge of the common psychiatric co-morbidity of substance misuse and the concept of dual diagnosis
Knowledge of appropriate investigations for substance misuse

SCREENING
• Diseases related to alcohol misuse are common, significant and amenable to improvement by early detection
and intervention  it is therefore appropriate that screening measures are used as part of the assessment
o CAGE & CAGE-AID screening
o Fast Alcoholic Screening Test (FAST)
• CAGE  “no” = 0 and “yes” = 1  >2 is clinically significant
o Have you ever felt you should cut down on your drinking?
o Have people annoyed you by criticising your drinking?
o Have you ever felt bad or guilty about your drinking?
o Eye opener  have you ever had a drink first thing in the morning to steady your nerves or to get rid
of a hangover?
• NB CAGE-AID is CAGE including drug use
• Fast Alcoholic Screening Test
HISTORY
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• Patients with primary alcohol problems or where it is thought that alcohol is a contributory factor to their
presentation a more detailed assessment of their alcohol use should be taken
• Lifetime pattern of alcohol consumption
o Age of first alcoholic drink
o Age when began to drink regularly
o When (if ever) did they begin to feel they had a problem with alcohol
o Period of abstinence and more heavy drinking and the reasons for these
• Current alcohol consumption
o Description of a typical day and a heavy day's drinking
o How often
o What type of drink and how much
o When is the first drink taken
o What setting
• Signs of dependence (remember features of alcohol dependence)
o Experience withdrawal symptoms in the morning or when unable to obtain alcohol
o Having to drink larger volumes to reach the same level of intoxication
o Episodes of memory loss ("blackouts")
• Social/Occupational Problems
o Have they missed days of work, had warnings or lost job as a result of alcohol
o Relationship difficulties/breakdown due to drinking
o Financial problems
o Criminal charges
• Previous Treatment Attempts
o Has the patient previously sought support
o Nature of previous treatments
o Describe subsequent return to drinking
• Physical and Mental Health
o Physical health problems as a consequence of drinking
o Any mental illness that is contributing or being exacerbated by drinking
EXAMINATION & INVESTIGATIONS
• In addition to routine examination of the major systems  there should be particular vigilance for the
following
o General condition
o Symptoms of withdrawal syndrome
o Facial capillarisation
o Stigmata of liver disease
o Cerebellar signs
o Peripheral neuropathy
• Investigations
o MCV  high specificity, but remains raised for 3-6 months after abstinence due to lifespan of RBC
o GGT  sensitivity 20-90%  more specific than other LFTS for alcohol related liver inflammation
o Liver ultrasound scan if indicated
Knowledge of the physical, psychiatric and social consequences of substance misuse including stigma
NEUROLOGICAL
• Central nervous system
o Cognitive & memory impairment
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o Reduction in brain weight and volume
o Wernicke-Korsakoff Syndrome
o Central pontine myelinolysis  pseudobulbar palsy & quadriplegia
o Cerebellar degeneration
• Peripheral nervouse system
o Alcoholic peripheral neuropathy & myopathy
o Optic atrophy and visual changes
RESPIRATORY & CARDIOVASCULAR

• Increased susceptibility to infections and aspiration pneumonia
• Alcoholic cardiomyopathy
• Arrhythmias  especially atrial fibrillation
• Hypertension
• Cerebrovascular events  especially haemorrhagic strokes
HEPATIC
• Alcoholic liver disease is the most common cause of liver disease in the developed world
• Fatty liver changes are seen in >90% of heavy drinkers and can emerge after a single heavy binge  this may
be asymptomatic or present with non-specific symptoms – such as lethargy & malaise  in the vast majority,
the changes are reversible with abstinence
• Alcohol hepatitis
• Cirrhosis may occur at the end-stage of either of the above processes  female drinkers are at an increased
risk of progressing to cirrhosis  co-morbid hepatitis B or C infection also increases the risk of progression
• Chronic alcohol misuse significantly increases the risk of hepatocellular carcinoma
RENAL, PANCREAS & SPLEEN

• Cirrhosis can predispose to the hepato-renal syndrome
• Chronic alcohol misuse and binge drinking may cause hypertension and contribute to chronic kidney disease
• Alcohol misuse is the commonest cause of chronic pancreatitis  if left untreated it can lead to
malabsorption and predisposes the individual to develop diabetes mellitus
• Acute pancreatitis can also occur
• Splenomegaly secondary to hepatic cirrhosis and portal hypertension
GI TRACT
• Oesophageal
o Mallory-Weiss tears secondary to vomiting
o Oesophageal varices +/- haemorrhage
o Barretts oesophagus and oesophageal carcinoma
• Gastric
o Gastritis and gastric erosion
o Peptic ulcer disease +/- haemorrhage
o Gastric carcinoma
• Small & large bowel
o Alcohol has a direct effect on the GI tract  can cause malabsorption & chronic diarrhoea
o It is a risk factor for lower GI carcinoma
REPRODUCTIVE SYSTEMS
• Male
o Erectile dysfunction
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o Hypogonadism in men
• Female
o Chronic alcohol misuse can cause sexual dysfunction in women
o It is thought to be a risk factor for fertility problems
o It is well established that heavy drinking during pregnancy is potentially doetus and increases the risk
of foetal alcohol syndromes
PSYCHIATRIC COMPLICATIONS
• Alcoholic hallucinosis  a substance-induced psychotic illness, which is a rare complication of prolonged
heavy alcohol use  individuals experiences hallucinations (usually auditory) in clear consciousness while
sober  begin as elemental hallucinations (banging or murmuring), but with ongoing alcohol use it can
progress to voices  differentials include acute psychotic episodes or delirium tremens  spontaneous
resolution in 95% of patients after cessation of alcohol
• Alcohol related brain damage (ARBD)  ARBD & dementia is recognised in ICD-10  60% of chronic heavy
drinkers will display some degree of cognitive impairment while sober – eg. impairment of short term
memory, long-term recall, new skill acquisition, executive functioning, but with relative preservation of IQ &
language  CT/MRI brain imaging shows cortical & subcortical atrophy  direct neurotoxic effects are
exacerbated further by thiamine deficiency which can lead to Wernicke-Korsakoff syndrome
• Pathological jealousy  this is a monosymptomatic delusional disorder seen secondary to current or previous
heavy alcohol misuse  the individual presents with primary delusion that their partner has been unfaithful
 significant association with violence and even homicide towards the supposedly unfaithful partner
• Other psychiatric comorbidity

o Anxiety & depressive disorders  low mood, generalised anxiety, social phobia and panic attacks 
chronic alcohol use has a direct depressogenic effect and the cycle of drinking and withdrawal can
provoke and exacerbate symptoms of anxiety
o Suicide  increased risk of suicide  psychiatric comorbidity , social isolation and repeated failed
attempts at abstinence are risk increasing
o Schizophrenia  rates of harmful use and dependence on alcohol are significantly higher among
people with schizophrenia compared to the general population  risk factor for psychotic relapse, re-
hospitlisation, non-concordance with treatment & violence
SOCIAL COMPLICATIONS
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Knowledge of the clinical features and management of emergency related to substance misuse including delirium
tremens and Wernicke encephalopathy
ALCOHOL WITHDRAWAL SYNDROME
• Alcohol withdrawal syndrome (AWS) can occur in any patient who is dependent on alcohol or abruptly stops
drinking  symptoms can be mild & short-lived or severe and life-threatening  severity of the symptoms
tends to correlated with the amount of alcohol consumed and the length of time of heavy drining
• Other risk factors for severe withdrawal
o Intercurrent medical illness  eg. infection
o Advanced liver disease
o Previous withdrawal episodes
• AWS has the potential to cause serious physical and psychiatric harm
• The syndrome should be anticipated and prophylactically treated in any patient who has
o Known alcohol dependence
o History of alcohol withdrawal
o Consumed >10 units alcohol for >10 days
o Current withdrawal symptoms
• Mild/uncomplicated alcohol withdrawal  occurs 4-12hrs after the last alcoholic drink and typically lasts 2-5
days  features include
o Coarse tremor o Psychomotor agitation
o Sweating o Anxiety
o Insomnia o Intense alcohol cravings
o Tachycardia o Occasionally transient hallucinations
o Nausea & vomiting
• Grand-mal seizures complicate 5-15% of alcohol withdrawal cases and can occurs 6-48hrs after last alcoholic
drink  if these seizures only occur during withdrawal they do not indicate primary epilepsy  risk factors –
heavy prolonged alcohol consumption, previous withdrawal seizures, idiopathic epilepsy and hx of head injury
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DELIRIUM TREMENS
• Delirium tremens is a medical emergency and occurs in 5% of patients with AWS
• Typically occurs 1-7days after the last drink
• Symptoms include  in addition to symptoms of uncomplicated withdrawal
o Clouding of consciousness and disorientation to time, place and person
o Amnesia for recent events
o Hallucinations & delusions  visual, tactile & auditory
o Severe psychomotor agitation and tremor
o Fever
o Autonomic disturbances and electrolyte imbalances
• Mortility is up to 40% if left untreated
• DDx  alternative cause of delirium, head injury or hepatic/Wernicke encephalopathy
WERNICKE-KORSAKOFF SYNDROME
• Wernicke-Korsakoff syndrome  Wernicke’s encephalopathy and Korsakodd psychosis respectively
represent the acute & chronic phases of a single disease process caused by neuronal degeneration secondary
to thiamine (vitamin B1)  most commonly seen in heavy drinkers
• Wernicke encephalopathy occurs secondary to thiamine deficiency  alcohol dependent individuals are
particularly susceptible due to
o Heavy drinkers tend to have poor dietary habits are their vitamin intake is poor
o Chronic alcohol intake reduces thiamine absorption from the GI tract
o Many heavy drinkers have liver disease and the capacity for hepatic storage of thiamine is reduced
• The classical symptom triad of Wernicke’s encephalopathy is  complete triad is only seen in 10% of cases
o Acute confusional state  most common
o Ocular-motor signs  ophthalmoplegia or nystagmus
o Ataxic gait
o Associated symptoms
▪ Peripheral neuropathy
▪ Resting tachycardia
▪ Stigmata of nutritional deficiency
• Brain imaging shows haemorrhages and secondary gliosis in periventricular and periaqueductal grey matter
 particularly involving the mammillary bodies, hypothalamus and tegmentum of the midbrain
• All patients who have symptoms or are at high risk of developing WE should be given parenteral vitamin
replacement  2 amps over 30 mins BD for 3-7 days  do not rehydrate with glucose as will exacerbate 
treat co-existing alcohol withdrawal syndrome
• In WE is left untreated  approx. 80% of cases would progress to Korsakoff syndrome leading to a mortality
of 15% if untreated
• Korsakoff syndrome is usually the result of thiamine defiency  however, rarer causes include head injury,
encephalitic process and CO poisoning  it does not necessarily follow Wernicke’s Encephalopathy and can
present in a “chronic” form
• Clinical features of Korsakoff syndrome
o Absence or significant impairment in the ability to lay down new memories  anterograde amnesia
o There may be some degree of retrograde amnesia  this is usually less marked
o Confabulation  the person may describe false memories for a period for which they have amnesia
o Apathy  the patients lose interest in things quickly and generally appear indifferent to change
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• Treatment for Korsakoff syndrome is to aggressively treat the Wernicke’s encephalopathy if present  then
continue oral thiamine and multivitamins for up to 2 years  appropriate psychosocial interventions for
cognitive impairment will need to be made
• 20% of cases show complete recovery and 25% show significant recovery over time with the remainder
largely showing no improvement
Knowledge of the role of different medications in treating substance misuse

ALCOHOL
• Detoxification  the pharmacological approaches for detoxification in alcohol withdrawal syndrome is
covered later on
• Maintenance treatment  pharmacological maintenance treatment for alcohol misuse includes medications
that aim to either deter the individual from drinking or reduce the individual’s craving for alcohol
• Disulfiram  a medication that is used to deter alcohol abuse  it causes irreversible inhibition of ALDH,
which converts alcohol to CO2 & H2O  if alcohol is consumed there is a build up acetaldehyde causing
flushing, headache, tachycardia, nausea and vomiting
• Acamprosate  can be prescribed to help to reduce cravings for alcohol for patients who are trying to
maintain abstinence  it is thought to act through enhancing GABA transmission in the brain
OPIATE DETOXIFICATION
• Symptomatic medication  some non-opiate oral medications that are effective in ameliorating symptoms of
opiate withdrawal  these are not liable to abuse or diversion on the black market
o Lofexidine  alpha-adrenergic agonist, which is effective in reducing many of the unpleasant
symptoms  effective detoxification can be achieved in as little as 3 days
o Loperamide or Metoclopramide  often prescribed to treat diarrhoea, nausea & vomiting commonly
seen in withdrawal
• Substitute prescribing  some opiate medications are used in detoxification and maintenance regimes
o Methadone  long-acting synthetic opiod – ½ life of 24hrs  therefore suitable for once daily dosing
 it is taken orally as a colour liquid
o Buprenorphine  partial opiate agonist  licensed treatment for opiate dependence and available in
once daily sublingual preparation
OPIATE MAINTENACE
• Opiate maintenance treatment involves medium & long-term prescribing of substitute opiate medication as
an alternative to the illicit opiate drug that the individual is dependent on
• Research has consistently shown that methadone is a cost-effective treatment for opioid dependence  it is
associated with a reduction in
o The use of other opioids
o Drug related mortality
o Injection drug-related risk behaviours & transmission of BBV
o Criminal activity
• After stabilisation and complete abstinence from street opiates  a decision should be made as to whether
the aim is dose reduction or maintenance
• Rapid reduction regimes reduce the dose over 14-21 days  although the reduction is usually more gradual
(weeks to months)
Knowledge of psychological interventions in substance misuse including motivational interviewing

MOTIVATIONAL INTERVIEWING
618
• Motivational interviewing  is a style of patient-centred counselling developed to facilitate change in health-
harming behaviours
• Principles of motivational interviewing
o Its purpose is to help patients explore and resolve their ambivalence towards stopping or reducing
health-harming behaviours
o It aims to enable patients to move through the stages of change model
o The therapist does not take a directive role, but supports the patient to evaluate the pros and cons of
their substance misuse behaviour
• Develop discrepancy  motivation for change is created when the person perceives a discrepancy between
their present behaviour and important personal goals  this often involves identifying the person’s own goals
 an important objective of MI is to help a person recognise the discrepancy between their behaviour and
their personal goals
• There are a number of techniques that can be used to help develop discrepancy  one technique is to ask
the person what is good or positive about a particular behaviour and what is not so good about it  reflecting
back and examining the positive and negative will help discrepancy emerge
• Roll with Resistance  resistance can take several forms - eg. negating, blaming, excusing, minimising,
arguing, challenging, interrupting and ignoring  in MI one does not directly oppose resistance, but rolls with
it and should not be viewed as a negative outcome  the patient is providing information about factors that
foster or reduce motivation to adhere to behaviour change  it also includes involving the person actively in
the process of problem-solving
• Express Empathy  MI relies on establishing and maintaining rapport with the patient and the ability to
express empathy is critical to this process  it requires skilful, reflective listening to understand a person’s
feelings and perspectives without judging, criticising or blaming  an attitude of acceptance and respect
contributes to the development of an effective, helping relationship and enhances the person’s self-esteem
• Support self-efficacy  self-efficacy is a person’s belief or confidence in their ability to carry out a target
behaviour successfully  MI aims to enhance the person’s confidence in their ability to overcome barriers
and succeed in change  this can be supported by recognising small positive steps that the person is taking
to change their behaviour, even when the person is simply contemplating a change  setting reasonable and
reachable goals that the person can actually accomplish will also help build confidence
ALCOHOL & SUBSTANCE PSYCHOSOCIAL
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Knowledge of the indications and practical implementation of social interventions in substance misuse
HARM REDUCTION
• Harm reduction refers to policies, programmes and practices that aim to reduce the harms associated with
the use of psychoactive drugs in people unwilling or unable to achieve abstinence
• It is based on the recognition that may people throughout the world continue to use illicit substances despite
strong efforts to discourage the initiation and continuation of use  harm reduction strategies focus on the
prevention of harmful consequences of drug use rather than of drug use itself
• The diagram below shows a “harm reduction” hierachcy  if an individual can be supported to move even
just one step up the pyramid there is a significant reduction in the morbidity and mortality associated with
substance misuse
• Examples of harm reduction

o Needle distribution/exchange programmes and advice regarding safer injecting practice
o “Take home naloxone” programmes to provide individuals with means to reverse opiate overdose
o Substitute prescribing  eg. methadone programmes
o Assessment and treatment of comorbid physical and mental illness
o Education about safe-sex practice
• In addition, to reduce harm at an individual level, some aspects of Harm Reduction programmes include
consideration of reduction of morbidity to the wider community  eg. prescription of methadone may
reduce criminality in an opiate-dependent individual with a consequent wider community benefit
STAGES OF CHANGE
• The treatment of patients presenting with alcohol and drug misuse disorders can be challenging  patients
often have a marked ambivalence towards achieving behaviour change, habit reduction and abstinence.
• Historically, change in alcohol and drug misuse was viewed as a "single event" rather than a "process" with
total cessation/abstinence being considered "success" and all other outcomes considered "failure" 
however in the early 1980s, Prochaska and DiClemente developed a model to explain the "process" of change
in patients with alcohol and substance misuse problems  the Stages-of-Change model forms part of a
broader conceptual framework known as the Transtheoretical Model.
• The Stages-of-Change model recognises that different people are at different stages of "readiness for change"
 by identifying a person's stage in the change process a healthcare worker may more appropriately match
interventions to the individual's needs
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• There are certain bio-psycho-social factors that are associated with better or worse prognosis in these
disorders
Positive Prognostic Factors Negative Prognostic Factors
• Motivated to change • Ambivalent about change
• Supportive family or relationship • Unstable accommodation or homelessness
• In employment • Absence of pro-social relationships
• Treatable co-morbid mental illness • Unemployment
• AA or Drug&Alcohol services involvement • Primacy  limited pursuits
• Repeated treatment failures
• Cognitive impairment
Carry out a clinical risk assessment on a patient with substance misuse
Develop a structured targeted management plan for an individual patient with substance misuse including managing
withdrawal
• Alcohol and other psychoactive substance misuse disorders are complex conditions and present numerous
management challenges
• Individuals who become addicted to substances often struggle to engage with treatment and display
irresponsible behaviours that are frustrating and difficult to comprehend for their families and healthcare
professionals
• Management of these disorders is multi-faceted  should aim to support the individual to:
o reduce harmful behaviours associated with substance misuse  e.g crime, the risk of Blood Borne
Viral infection
o stop or reduce their substance misuse safely
o maintain this change in the longer term
621
o address physical or mental ill health as required
o address social, occupational and financial problems
ALCOHOL WITHDRAWAL SYNDROME MANAGEMENT

• Key components of alcohol detoxification treatment include:
o Medication for symptomatic relief  benzodiazepines (Chlordiazepoxide reducing regime)
o Nutritional and vitamin supplementation  thiamine and multivitamins
o Close monitory for severe physical and psychiatric complications throughout the withdrawal period
• Outpatient treatment  preferred as relatively inexpensive  research indicated that outcomes are
comparable to inpatient detoxification treatment
• Inpatient treatment  should be considered if:
o Past hx of severe or complicated withdrawals  eg. seizures or delirium
o Current psychiatric symptoms  delirium, confusion, psychosis, suicidality
o Co-morbid physical illness, severe malnutrition or frailty
o Severe nausea & vomiting or biochemical abnormalities
Able to carry out a basic motivational interview
Aware risk of substance misuse among medical professionals

DEFINITIONS
• Acute intoxication  transient physical and mental abnormalities occurring shortly after administration and
caused by the direct effects of the psychoactive substance  may cause disturbances in the level of
consciousness, cognition, perception, affect, behaviour or other psychophysiological functions  the effects
are specific and characteristic for each substance
• Harmful use  the continuation of substance use despite evidence of damage to the user’s physical or
mental health or to their social, occupational or familial well-being  the damage may be denied or
minimised by the individual concerned
• Withdrawal  where there is a physical dependence on a drug, abrupt cessation or partial withdrawal of the
substance generally leads to withdrawal symptoms  the particular symptoms and their severity/persistence
are related to the type of substance and the quantity being used prior to cessation  withdrawal syndromes
can be complicated by the development of seizures, delirium or psychotic symptoms  clinically significant
withdrawal symptoms are recognised in
o Alcohol
o Opiates
o Benzodiazepines
o Cocaine
o Amphetamines
• Tolerance  over time the user finds that more of the drug must be taken to achieve the same intensity of
pleasurable effects  they may attempt to combat increasing tolerance by choosing a more rapidly acting
route of administration (eg. IV over smoking)  tolerant individuals are able to consume large quantities of
specific substance while showing no or few signs of intoxication
• Dependence syndrome  comprises of a cluster of physiological, behavioural and cognitive phenomena
relevant to a person’s relationship with a particular substance or class of substance  there are core features
of the dependence syndrome:
o Primacy  the drug and need to obtain it becomes the most important thing in the person’s life
taking priority over all other responsibilities, activities and interests  relationships, financial stability,
physical health and the individual’s sense of morality may all be diminished as a consequence
622
o Continued use despite negative consequences  the user continues with the substance use even
when threatened with significant losses as a direct consequence of continued use
o Loss of control of consumption  a subjective sense of inability to control or restrict further
consumption once the drug is taken
o Narrowing of the repertoire  the user moves from using a range of psychoactive substances to a
single drug taken in preference to all others  over time, the user tends to take the drug in the same
setting with the same individuals and uses the same route of administration
o Rapid reinstatement of dependent use after abstinence  characteristically, when the user relapses
to drug use after a period of abstinence they are at risk of rapidly returning to the pattern of
dependent use in a much shorter period of time
o Tolerance and withdrawal  both tolerance and physiological withdrawal symptoms are considered
features of the dependence syndrome
• Substance induced psychotic disorder  the individual presents with psychotic symptoms (hallucinations
and/or delusions) which occur as a direct result of substance-induced neurotoxicity  psychotic features may
develop either during intoxication or withdrawal states or on a background of chronic harmful or dependent
use  it can be difficult to differentiate diagnostically between these individuals and those presenting with a
primary psychotic illness
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Psychiatric Emergencies CP2 Learning Objectives Psychiatry
PSYCHIATRIC EMERGENCIES
Knowledge of common causes of psychiatric emergencies including agitation and acute confusion
• A psychiatric emergency is any disturbance in thought, feeling or actions for which immediate therapeutic
intervention is necessary  these can be classified into
o Major  suicidal patients & agitated/violent patients
o Minor  grief reaction, rape, disaster & panic attacks
o Medical emergencies  delirium, neuroleptic malignant syndrome, serotonin syndrome, overdose
and withdrawal
• Approximately 30% of psychiatric emergency patients are suicidal  10% are violent  40% require hospital
admission
• Pyschiatric emergencies peak between 6-10pm, when there is more tendency to have conflicts when family
members are home together  substance use increases and aggravates aggressive behaviour  during this
time it is difficult to access counsellors, GPs and other resources
• Suicidal ideation and behaviour are the most common psychiatric emergencies
DELIRIUM
• Delirium is a transient potentially reversible cerebral dysfunction that has an acute or subacute onset, which is
manifested clinically by a wide range of fluctuating mental status abnormalities  it is common and
potentially lethal
• It is a clinical syndrome of global cognitive impairment associated with behavioural abnormalities
• It is very common in all health care settings, but in hospital it has a prevalence of 10-30%  10-15% of the
elderly population have delirium on admission to acute hospital and a further 10-40% will develop it during
their stay  in up to 2/3 of cases it is superimposed on dementia
• Delirium has an abrupt onset and fluctuating course  it is characterised by significant disturbances in
attention along with associated deficits in memory & orientation, disorganised thinking and perceptual
disturbances
• ICD-10 criteria
o Clouding of consciousness  reduced clarity of awareness of environment with reduced ability to
focus, sustain or shift attention
o Disturbed cognition  with impaired immediate recall and recent memory, but relatively intact
remote recall and disorientation in TPP
o At least one of the following
▪ Variable activity levels
▪ Increased reaction time
▪ Altered flow of speech
▪ Enhanced startle reaction
o At least one of the following
▪ Insomnia
▪ Daytime drowsiness
▪ Reversal of sleep-wake cycle
▪ Nocturnal worsening of symptoms
▪ Disturbing dreams & nightmares
• There are several types of delirium
o Hyperactive delirium  characterised by people who have heightened arousal and can be restless,
agitated or aggressive
o Hypoactive delirium  characterised by people who become withdrawn, quiet and sleepy
o Mixed delirum
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o Delirium superimposed on dementia
o Persistent delirium
• A patient with suspected delirium would need a full history (may need informant), a consideration of the
physical causes, a risk assessment and complete baseline cognitive examination  using Abbreviated Mental
Test (AMT), Montreal-Cognitive Assessment (MoCA) or MMSE
• Investigations
o Infection  cultures, urinalysis, FBC, CRP, CXR
o Medications  review all medications
o Metabolic/endocrine  U&Es, LFTs, Ca2+, glucose & TFTs
o Others  ECG or O2 sats
o Neurological  CT/MRI Brain
• Causes of delirium  I WATCH DEATH
o Infection  HIV, sepsis, pneumonia
o Withdrawal  alcohol, barbiturate, sedative
o Acute metabolic  acidosis, alkalosis, electrolyte disturbance, hepatic failure, renal failure
o Trauma  closed-head injury, heat stroke, post-operative, severe burns
o CNS pathology  abscess, haemorrhage, hydrocephalus, subdural haemtoma, infection, seizures,
stroke, tumours, metastases, vasculitis, encephalitis, meningitis, syphilis
o Hypoxia  anaemia, CO poisoning, hypotension, pulmonary/cardiac failure
o Deficiencies  vitamin B12, folate, niacin, thiamine
o Endocrinopathies  hyper/hypoadrenocortism, hyper/hypoglycaemia, myxedema,
hyperparathyroidism
o Acute vascular  hypertensive encephalopathy, stroke, arrhythmia, shock
o Toxins or drugs  prescription drugs, illicit drugs, pesticides, solvents
o Heavy metals  lead, manganese, mercury
ACUTE BEHAVIOURAL DISTURBANCE

• Acute behavioural disturbances can develop in people suffering from mental health issues at any time during
the course of their mental illness or can be a manifestation of underlying systemic organic illness  eg.
infection
• Patients can become agitated or aggressive during an acute episode of illness, such as mania or schizophrenia
o Maybe directly due to psychotic symptoms  such as delusions or hallucinations
o Due to non-psychotic symptoms  such as high levels of anxiety or arousal
o Use of illicit substances  such as cannabis or amphetamines
NEUROLEPTIC MALIGNANT SYNDROME

• NMS is rare, but potentially serious and fatal adverse effect of all anti-psychotic medication  it is due to
dopamine blockade leading to sympathetic hyperactivity
• The incidence and mortality rate of NMS are difficult to establish  some studies have estimated that fewer
than 1% of all patients treated with typical anti-psychotic medications will experience NMS
• Risk factors of NMS
o History  previous NMS, known cerebral compromise or organic brain damage, alcoholism
o Mental state  agitation , over activity, catatonia
o Physical state  dehydration
o Treatment-related factors
▪ IM therapy
▪ Recent or rapid anti-psychotic medication dose increase
▪ Rapid dose recution/abrupt withdrawal of anti-cholinergic medication
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▪ High doses anti-psychotic medications
▪ High potency neuroleptic medication  haloperidol
• Presentation varies significantly  can present with fever, diaphoresis, rigidity, confusion and fluctuating
consciousness  autonomic instability can present as fluctuating BP, tachycardia, diaphoresis, salivation &
incontinence
• There are no blood tests, which are pathognomonic of NMS  CK is frequently raised and often exceeds 1000
units/L  the upper limit of CK is usually around 200 units/L  patients can also have leucocytosis and
deranged LFTs
ACUTE DYSTONIA
• Acute dystonic reactions are reversible extrapyramidal side effects that occur after administration of anti-
psychotic medications  it is a muscle spasm occurring anywhere in the body
• Symptoms can begin immediately or can be delayed for a few hrs to days  it is characterised by intermittent
spasmodic or sustained involuntary contractions of muscles face, neck, trunk, pelvis, extremities and even
larynx
• It can cause significant distress to patients and can be life threatening if it includes laryngeal muscles
• Although dystonic reactions are occasionally dose related  these reactions are more often idiosyncratic and
unpredictable
• Most medications cause dystonic reactions by dopamine D2 receptor blockade in nigrostriatal pathway, which
leads to an excess of striatal cholinergic output  high potency D2 receptor medications like haloperidol are
more likely to cause acute dystonia  atypical anti-psychotic medications are less likely to cause dystonia
• Approximately 10%, but more common
o In young men
o In those who are neuroleptic naïve
o With high potency D2 receptor  such as haloperidol
o NB – rare in the elderly
• Dystonia can affect any muscle group in the body  frequency of occurrence of dystonia
o Neck twisted to one side  torticollis – 30%
o Tongue  17%
o Jaw  15%
o Oculogyric crisis  neck arched and eye rolled back – 6%
LITHIUM TOXICITY
• Lithium is only taken PO and excreted almost entirely by the kidneys  therefore it is very important to check
for renal function tests before commencing lithium
• It has a very narrow therapeutic range (0.4-1.0mmol/L)  it is therefore very important to check blood levels
regularly  initially weekly thereafter once in every 3 months
• Blood levels are usually done about 12hrs after the last dose
o Upper therapeutic limit for 12hr post-dose is 1.2mmol/L
o With levels >1.5mmol/L most patients will experience some symptoms of toxicity
o With levels >2.0mmol/L life-threatening toxic effects occur
• Clearance of lithium is reduced in patienst with renal impairment  eg. older adults, dehydration and sodium
depletion  certain medications can also increase serum lithium levels – thiazides, NSAIDS & ACE-i
• Symptoms  untreated lithium toxicity is fatal
o Early symptoms
▪ Marked tremor
▪ Anorexia
▪ Nausea/vomiting
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▪ Diarrhoea
▪ Dehydration & lethargy
o Later symptoms  neurological complications
▪ Restlessness
▪ Muscle fasciculations
▪ Myoclonic jerks
▪ Choreo-athetoid movements
▪ Marked hypertonicity
▪ May progress to ataxia, dysarthria, lethargy, drowsiness, confusion, hypotension,
arrhythmias, emerging seizures, stupor and coma
SEROTONIN SYNDROME
• Serotonin syndrome is a rare, but potentially life-threatening condition occurring in the context of initiation or
dose increase of a serotonergic medication
• Potential mechanisms of serotonin syndrome include
o Increased serotonin synthesis or release
o Reduced serotonin uptake or metabolism
o Direct serotonin receptor activation
• One of the commonest causes of serotonin syndrome is clinical practice si when patients are being switched
over from one anti-depressant medication to another or when a combination of anti-depressants are being
used
• SS can also occur if patients are taking anti-depressants and other medications and supplements  eg.
Triptans, St John’s wort, LSD/Cocaine/Amphetamines
• The clinical manifestations of SS are highly variable  symptoms can present within a few hrs of taking a new
medication that can increase serotonin activity in CNS  there are no clinical investigations to diagnose SS, so
it is diagnosed mainly on history and clinical signs/symptoms
• Some symptoms of SS  untreated serotonin syndrome can be fatal
o Psychiatric  restlessness, confusion & agitation
o Autonomic
▪ Hyperthermia  could be related to prolonged seizure acitivty, rigidity or muscular
hyperactivity
▪ GI upset
▪ Tachycardia
▪ Hypo/hypertension
▪ Mydriasis
o Neuromuscular
▪ Myoclonus
▪ Rigidity
▪ Tremors
▪ Hyperreflexia
▪ Ataxia
▪ Convulsions
SEROTONIN SYNDROME VS. NEUROLEPTIC MALIGNANT SYNDROME

Serotonin Syndrome Neuroleptic Malignant Syndrome
Associated treatment Serotonergic medications  Anti-psychotics  idiosyncratic or
overdose or combinations normal dose
Onset Rapid Slow  days to weeks
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Progression Rapid Slow  24-72hrs
Muscle rigidity Less severe Severe  lead pipe
Activity Hyperkinesia Bradykinesia
Knowledge of the principles of management of psychiatric emergencies including agitation and acute confusion
DELIRIUM
• Identify and treat the precipitating cause
• Provide a calm environment and supportive measures
• Involve family & carer
• Consider referral to psychiatric team
• Avoid sedation unless severely agitated
• Review patient regularly
• Environmental & supportive measures
o Reality orientation techniques  improve communication by use of calender, clock
o Correct sensory impairments  eg. hearing aids or glasses
o Optimise patients condition  attention to hydration, nutrition, adequate pain control
o Create an environment that optimised stimulation  reduce necessary noise
o Make environment safe  remove objects with which patients could harm self or others
o Avoid moving people between wards or rooms
o Maintain hydration and oxygenation
o Avoid constipation
o Avoid unnecessary catheterisation
o Maintain good sleep pattern
o Assess and manage pain
ACUTE BEHAVIOURAL DISTURBANCE

• The three important basic principles of management of acute behavioural disturbance
o Predictions of risk of agitation
o Prevention of behaviour escalating once patients begins disturbed
o Use of interventions to ensure safety of the patients and staff
• Key issues to consider in management of acute behavioural disturbance
o The need for the need for admission, including the use of Mental Health Act or Mental Capacity Act
o The level of security needed - does police need to be involved? e.g. if threatened or actual violence
persists despite adequate attempts to manage the situation
o The level of observation required to manage patient effectively
o The need for medication
o The need for physical restraint
• Mental State Examination  look for the following
o Persecutory delusions
o Delusions of passivity
o Actual threats of violence
o Emotional states linked to violence  irritability, hostility, sense of grievance, shouting or talking
loudly
o Behaviour  pacing, refusing to sit down, invading personal space
o Limited insight
• De-escalation  the aim is to predict the possible violence and to de-escalate the situation as soon as
possible  most situations responds to such measures and it should be the first step to managing ABD 
physical restraint and medication should only be used when these measures fail or are inappropriate
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• Non-pharmacological techniques are the 1st line of management, but when these fail medication, restraint
and seclusion need to be considered
• Rapid tranquilisation (RT)  aim is to calm the agitated patient without sedating them and to reduce the risk
of violence and harm  medication should be given orally, but IM is sometimes necessary  always consult a
senior doctor and remember to use the minimum dose  when prescribing choose rapid onset, short acting,
minimal side effects and easily reversible
o Benzodiazepines
▪ Lorazepam  quick onset of action, shorter duration of action and relatively safe/tolerable
▪ Midazolam  onset of 15mins IM and 3-5mins IV
▪ Diazepam  longer half-life and has erratic effect if given IM
o Anti-psychotics  Haloperidol or Olanzapine  NB – ECG before Haloperidol
o Combination of above
o Promethazine
• Possible complications
NEUROLEPTIC MALIGNANT SYNDROME

• Withdraw antipsychotic medication
• Monitor temperature, blood pressure and pulse
• Consider benzodiazepine for sedation
• Rehydration
• Dopamine agonist like Bromocriptine or dantrolene may be used
• Always consult a psychiatrist before starting any antipsychotic medication in any patients who might have had
NMS
ACUTE DYSTONIA
• Dystonia usually responds to anticholinergic medication eg. Procyclidine – 5-10mg PO, IM or IV
• Remember that patient may be unable to swallow
• With IM administration, response is seen around 20mins and within 5mins with IV
• Check for cyanosis and administer O2 and transfer to medical unit as required
LITHIUM TOXICITY
• Prevention  education of patients to maintain adequate hydration and salt intake
• If you suspect lithium toxicity  immediately stop lithium
• Maintain adequate hydration
• In severe toxicity  patient may require forced diuresis or haemodialysis
SEROTONIN SYNDROME
• Stop the medication which might be the precipitating cause
• Symptomatic treatment with rehydration
• Benzodiazepines can be used agitation
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• If symptoms are severe transfer immediately to A&E
• If overdose  consider gastric lavage
Knowledge of the ethical and legal principles of mental health legislations in managing psychiatric emergency, including
the Mental Health Act and the Mental Capacity Act
Develop a structured targeted management plan for an individual patient who presents with psychiatric emergency
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CAAMHS CP2 Learning Objectives Psychiatry
CHILD & ADOLESCENT PSYCHIATRY

Basic knowledge of the epidemiology, clinical presentation, aetiology and prognosis of common psychiatric disorders in
children and adolescents, including neurodevelopmental disorders such as ADHD, autism and dyslexia
• Mental health difficulties affect 10% of children  50% present to GPs and 30% present to Paediatricians 
only 1 in 10 of these are in contact with specialist services
• Child’s mental health difficulties impact on development, education and relationships  it may be associated
with
o Parental mental illness  child as carer
o Sibling mental illness
o Family difficulties
o Adversity/poverty
o Domestic violence/abuse
• Attachment in infants is important as it can lead to an internal model of the self as unlovable and inadequate,
and of others as unresponsive and punitive  it may also predict a person’s reaction to loss or adversity, and
their pattern of relating to peers, engaging in relationships and parenting children
• Possible impacts of illness on development and family functioning
o May halt development as young person preoccupied with illness rather than growing up
o Child may show delay/regression in achieving normal social/emotional developmental milestones
o Separation out of “normal” adolescent development from illness
o Makes it difficult for parents to let go
• There are a number of neurodevelopment disorders
o Autistic Spectrum Disorder
o Attention Deficit Hyperactivity Disorder (ADHD)
o Dyslexia
AUTISTIC SPECTRUM DISORDER

• Prevalence  complete spectrum is 1 in 100  most severe (Kanner autism) is 1 in 1000
• Affect boys more than girls  4:1
• May present to services at any age
• Persistent triad of deficits
o Socialisation
o Communication
o Repetitive behaviour
• Aetiology
o Genetic
o Biological, neurotransmitters, brain injury
o Psychological/social factors  affects how problem present and how patient copes with it
ATTENTION DEFICIT HYPERACTIVITY DISORDER

• Prevalence  1-5% - variable depending on the diagnostic criteria
• Affects boys more than girls  3:1
• Onset <7yrs
• Needs to be persistent  eg. in more than one setting (home & school)
• Core symptoms
o Inattention
o Hyperactivity
o Impulsivity
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• Maladaptive & inconsistent with child’s developmental level
• Aetiology
o Genetic
o Biological, neurotransmitters, brain injury, ?certain foods
o Psychological/social
DYSLEXIA
• Prevalence  widest possible definition – 10%  most severe 4%
• Affects boyrs more than girls  4:1
• May present to services at any age  often presents to CAMHS with secondary behaviour problems
• Persistent difficulties in processing and producing written material  out of keeping with the persons other
abilities  a modern disorder as reading/writing has only recently become universally require skills
• Aetiology
o Genetic
o Biological, neurotransmitters, brain injury
o Psychological/social factors affect how problem presents and how patient copes with it
Basic knowledge of the treatment of common psychiatric disorders in children and adolescents, including
neurodevelopmental disorders such as ADHD, autism and dyslexia
• Biological
o Generally less common as 1st line
o Fewer treatments  limited evidence base
o NICE guidelines  depression in adolescents and ADHD in children
• Psychological  depending disorders, but more commonly used – CBT & family therapy
• Social  very important and links to wider network especially educational social services
• Recent concerns regarind suicidal behaviours in teens taking SSRI, so MHRA suggests specialist prescribing
only and use on fluoxetine
ATTENTION DEFICIT DISORDER

• Biological
o Stimulants  Methylphen (Ritalin, Concerta)
o Non-stimulants  Atomoxetin
• Psychological  parenting course
• Social  liaison with education – eg. special need
An awareness of the assessment and treatment strategies for common psychiatric disorders in children and adolescents,
including how these strategies may be different from those employed in working age populations
• Adolescence is a modern, culturally determined concept  special challenge in social development
• Indicies in full maturity
o Identity formation
o High priority for human relationships
o Comfortable alone or with others
o Empathy and appreciation for needs of others
o Formation of reciprocal, meaningful and mutually dependent relationships
• Adolescnets can develop mental illnesses  such as mood disorder, anxiety disorder, substance misuse,
eating disorder and psychosis – they share similar features as adult disorders
• Self-harm is also common among adolescents  stigma is also important
• The principles are similar to the adult assessment  history, MSE and risk assessment
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o Always include the family  especially for older children, you may want to speak to child before their
parent
o Remember to consider risk and any underlying mental illness
o Social context is even more vital than it is in adults  children can’t choose where they live or go to
school, they get what the adults around them supply
• Risk assessment
o Remember risk to self and others
o One particular concern is child protection/safeguarding children
▪ Physical
▪ Sexual
▪ Emotional
▪ Neglect
o You need to be aware that abuse may underlie presenting symptoms
o There is a duty of all professionals to protect children and the role of social/children services in
safeguaring
Recognise that psychiatric disorders may have different aetiology and present differently in different age groups
An awareness of the importance of relationships on children’s mental health, as well as the need to consider the views
of each family member when working with families
Aware the legal framework in child and adolescent psychiatry

• It is important to be aware of the legal issues  in particular regarding consent & confidentiality in working
with children & adolescents
• Definitions
o Children  according to GMC, they define it as those younger children who lack the maturity and
understanding to make important decisions for themselves
o Young people  older or more experienced children who can make important decisions themselves
o Adults  aged >18 years
• It is legally presumed that people after 16 yrs have the ability to make decisions about their own care
• There is no age restriction for the Mental Health Act, but this can only be used for the treatment of mental
disorders  MCA generally only applies to individuals above 16, however the principle of assessing capacity
as in the MCA can be used at any age  if consent is needed <16yrs, consider parental consent
• The same duties of confidentiality apply when using, sharing or disclosing information about children and
young people as about adults  it is largely dependent on whether the child or young person has capacity in
consenting for disclosure/confidentiality
• If a child or young person does not agree to disclosure there are still circumstances in which you should
disclose information
o When there is an overriding public interest in the disclosure
o When you judge that the disclosure is in the best interests of a child or young person who does not
have the maturity or understanding to make a decision about disclosure
o When disclosure is required by law
• Children will usually be accompanied by parents or other adults involved in their care, and you can usually tell
if a child agrees to information being shared by their behaviour
• Occasionally, children who lack the capacity to consent will share information with you on the understanding
that their parents are not informed  you should usually try to persuade the child to involve a parent in such
circumstances  if they refuse and you consider it is necessary in the child’s best interests for the
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information to be shared – eg. to enable a parent to make an important decision, or to provide proper care
for the child  you can disclose information to parents or appropriate authorities.
• You should record your discussions and reasons for sharing the information
Able to conduct a conduct a 3-way assessment interview, involving a parent and an adolescent
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Intellectual Disability CP2 Learning Objectives Psychiatry
INTELLECTUAL DISABILITIES
Knowledge of the definition of the concept of intellectual disability
• Basic definition
o Significantly sub-average intellectual functioning  an IQ below 70 on an individually administered IQ
test
o Deficits or impairments in adaptive behaviour, taking into account the person’s age
o Onset of intellectual impairment before the age of 18yrs
• There are different terms used in the past to describe this phenomenon – mental retardation, learning
disability  however, because of the stigma of these terms, it is now mostly called intellectual disability (ID) –
a term used by DSM-5
• In both DSM-5 and ICD-10, the severity of IF is classified as mild, moderate, severe or profound  in the past,
it was largely dependent on the IQ scores, but DSM-5 now grades the severity according to adaptive
functioning
Mild LD Moderate LD Severe LD Profound LD

• IQ score 50-69 • IQ score 35-49 • IQ score 20-34 • IQ score <20
• Prevalence: • Prevalence: • Prevalence: 0.5% • Prevalence:
1.5-3%  0.5% • Need help with 0.05%
account about • Often capable daily living, • Usually need
85% of all IDs of substantial though can be extensive or
• Often not autonomy in able to wash and total help with
recognised as daily living with usually continent; daily living
learning some often physically • Minimal ability
disabled only supervision disabled of
need help if • Normally able • Capable of only communication
problems arise to limited • Needs
• Often can communicate communication continuous care
sustain adequately, to often not by
relationships, do simple speech
and hold household jobs • Usually need
a routine job • May need a continuous care
supervised
environment
and work in a
sheltered
workshop
• Epidemiology
o Males more than females
o Higher in the lower social classes
o Association with overcrowding, poverty, irregular unskilled employment
• Aetiology  30% with no identifiable cause  polygenic inheritance of low intelligence  social and
educational deprivation  other factors
o Genetic/chromosomal
o Pre-natal
o Perinatal
o Post-natal
CHROMOSOMAL AETIOLOGY
• Down’s syndrome
o Trisomy 21
o Most common cause of ID
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o Associated with characteristic physical abnormalities
o Increased risk of deafness, cataracts, hypothyroidism and early onset Alzheimer’s disease
• Fragile X syndrome
o 2nd most common cause of ID
o Abnormality on long arm of chromosome X
o Most common in male
o Characteristic physical abnormalities  include elongated face and protruding ears
• Cri du chat syndrome  deletion of short arm of chromosome 5
• Tuberous sclerosis
o Mutation in tumour suppressor gene on chromosome 9 or 16
o Can result in autism and epilepsy with ID
o Characteristic skin changes and tumours of the brain and other organs
• Neurofibromatosis
o Mutation of gene on chromosome 17
o Usually with mild ID
o Café au lait spots and abnormalities of skin, soft tissues, nervous system and bone
• Phenylketonuria
o Incidence about 1 in 10,000 births
o Autosomal recessive
o High serum phenylalanine
o ID with short stature, hyperactivity, irritability, epilepsy, lack of pigment and eczema
PREGNANCY AETIOLOGY
Pre-natal Peri-natal Post-natal
Pre-eclampsia Intraventricular haemorrhage Malnutrition
Congenital hypothyroidism Birth trauma and hypoxia Chronic lead poisoning
Infections  rubella, CMV Hyperbilirubinaemia Head injury
Foetal alcohol syndrome Neglect & abuse
Placental insufficiency Brain infection
Childhood brain tumour
Aware some of the practical and ethical issues for people with an intellectual disability
RISK ASSESSMENT
• Risk assessment is important in ID  possible risks – depending on level of ID
o Suicide
o Self-harm
o Damage to property
o Harm towards others
o Unsupervised exit
o Harm from others
• Concept of Risk Assessment and Management Plan (RAAMP)
o Collecting evidence
o Identifying triggers and context
o Plan the consequences
o Develop strategies to minimise risky behaviour
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Aware appropriate services for people with an intellectual disability
• The management of moderate to severe ID usually involves the ID team in the community and sometimes in
the inpatient or residential setting
• Professionals involved include
o Psychiatrists & psychologists
o Community nurses
o Speech & language therapists
o Social workers
o Occupational therapist
o Physiotherapists
o Music therapists
o Support staff
• Day services
o Day centres
o Day hospitals
o Colleges
o Leisure and recreation
o Work
• Residential services
o Living along or with family
o Adult family placements
o Fostering
o Short-term care
o Lodgings
o Group homes
o Staffed homes
o Hospitals
o Security provision
Aware of possible family reactions to intellectual disability
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Recognise possible presentation of mental illness in patients with intellectual disability
AUTISM
• Over 66% individuals with autism have intellectual disabilities  three classical impairment in autism
o Social interaction
o Communication
o Imagination/repition/routines
• The followings are possible presenting features:
o Aloof
o Repetitive movements
o Little/no interaction with mother
o Do not bring toys to show to mother
o Do not run to greet parents
o Do not follow mother around the house
o Little eye contact
o No imaginative play
o Carry same object around
o Can be agile, but clumsy at copying movements
o Cannot understand the world  temper tantrums
o Speech
▪ 49% no speech
▪ Exact repetition
▪ Pronoun reversal
▪ Difficultly with abstraction
▪ Poor non-verbal communication
ASPERGER’S SYNDROME/AUTISTIC SPECTRUM DISORDER

• Classical features of Asperger’s syndrome include:
o Good speech, but long winded and literal
o Long monologues, regardless of response
o Monotonous
o Good memories, but not interested in wider applications
o Lack of common sense in social interactions
o Physically clumsy
o Intelligence  variable but usually at least average, but sometimes highly intelligent
• Sufficient personal space is important for individuals with autism
• Quiet location  they can engage in their respective behaviour
• Each day to be organised and explained
• Planned space for their rituals
• Content of activities must not be beyond their capabilities
• Organised physical activities can reduce challenging behaviour
• Treatment of epilepsy and other physical problems
• Obsessions  see behavioural approach
• Behavioural approach
o Graded changes
▪ To deal with obsessions
▪ Aim to reduce frequency gradually – eg. remove an item at a time in the case of obsessive
collection of items
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▪ Positive reinforcers  eg. reward
• Immediate
• Appropriate
• Consistent
• Paired with attention and praise
• Every time
o Setting limits
▪ Mainly for challenging behaviours  some behaviour might need to be interrupted
▪ First to fain attention of individual
▪ Warn before interruption
▪ Any destructive behaviour should be interrupted quickly
▪ Avoid ‘No’  use positive direction
▪ Use short and concrete explanation
▪ Allow tantrum to run itself out
• Education  can provide a framework for order, routines and structure  understanding is difficult – try
physical prompting and visual demonstration  teaching material has to be precise and specific  help to
develop any skills
• Other managements
o Counselling of parents is important
o Medication is not very useful  excitability may be reduced by anti-psychotics
o Aggressive outburst usually understood in terms of environmental factors
DEPRESSION
• Look for any family history of depression
o Observed behaviour
o Diurnal mood or activity variation
o Agitation may lead to wandering
o Loss of appetite
o Sleep disturbance
o Speech or motor retardation
• Observed anxiety
• Exaggeration of a need for sameness
• Depressive ideas and suicidal ideas rare and poorly planned
MANIA/BIPOLAR
• Family history of bipolar disorder  may help to distinguish from schizophrenia
• Challenging behaviour
• Giggling
• Overactivity and excitement
• Inappropriate masturbation or exposure  disinhibition
• Delusions are not as elaborate
SCHIZOPHRENIA
• Difficult to diagnose below IQ of 45
• Commoner with more severe intellectual disability
• Poverty of thought
• Delusions  less elaborated
• Hallucinations  simpler and repetitive, may respond to unseen stimuli
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• Distinguish negative symptoms from developmental history  deterioration from the previous level of
functioning
• Persecutory delusions and thought disorder less common
• Earlier age of onset
• Can present with
o Fear
o Withdrawal
o Challenging behaviour  in particular out of character
o Sleep disturbances
CHALLENGING BEHAVIOUR
• Challenging behaviour is a general term used in ID to describe undesirable behaviour in these patients
• Remember challenging behaviour can be caused by different reasons  such as
o Social/environmental factor  eg. new environment, new carer
o Mental illness
o Side effects of medication
o Physical illness
▪ Ear infections
▪ Dental problems
▪ Urinary tract infections
▪ Respiratory infections
▪ Thyroid problems
EPILEPSY
• More likely in severe intellectual disability
• Prevalence
o School children  0.6 %
o Mild ID  3-6 %
o At least moderate ID  44 % had epilepsy by age 22
• Males: Females = 4: 1
• Fit frequency and psychotropic medications  psychiatric medications may affect the seizure threshold
• Compliance can be an issue
• Inadequate control of fits - leading to polypharmacy
• Recording of fits may be difficult
• Need to assess side effects of medication
• Recognition of non-epileptic attacks
• Frequent attacks may cause over-protection by carers / parents
• Education of patient and carer is important  e.g. emergency treatment of prolonged fits
• Social implications
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PERINATAL PSYCHIATRY
Basic knowledge of the epidemiology, clinical presentation, aetiology and prognosis of common psychiatric disorders
during pregnancy and after childbirth
• The perinatal psychiatric service provides care for women with psychiatric disorders complication pregnancy,
childbirth and the postpartum period  this includes all women who develop illnesses during the perinatal
period, but also those women with pre-existing psychiatric illness
• The perinatal psychiatric service has specialist knowledge about perinatal psychiatric disorders and their
management, including concerning risks associated with these disorders  the service is also specifically
concerned with the effects of the illness and its treatment on the developing foetus and infant
• Psychiatric disorders are common in pregnancy  these disorders are slightly increased in the 1st trimester in
comparison to the general population and usually mild and likely to improve  milder psychiatric disorders
respond to psychosocial interventions
• The first onset of serious mental illness is rare in pregnancy  depression & anxiety in the 3rd trimester may
continue in the postpartum as postnatal depression
• Depending on how psychiatric disorders are defined  up to 1/3 of deliveries are complicated by psychiatric
morbidity
o Depression  15-30%
o Depressive episode  10%
o Moderate/severe depressive episode  3-5%
o Referred psychiatry  2%
o Psychosis  0.2%
THE PINKS & BLUES

• The Pinks  normal phenomena, which occur in the first 48hrs postpartum  characterised by excitement
and sense of euphoria  a woman may also present as mildly over talkative and overactive with some
insomnia  though there is a slight risk of exhaustion, this will resolve without any intervention
• The Blues  a common occurrence in the postpartum period – 50-80%  they most frequently present
about Day 5, but can present anywhere between Day 3-10  they are attributed to hormonal changes in
combination with physical and emotional exhaustion  generally last 48hrs and no specific treatment is
required  typical symptoms include – generally mild & not pervasive
o Emotional lability
o Tearfulness
o Mild anxiety
o Irritability
DEPRESSIVE ILLNESS
• Depressive illnesses occurring in the postpartum period are similar to illnesses occurring at other times 
with guilt and concerns about parental ability commonplace
• The peak onset of depressive illnesses is between 2-4 weeks postpartum  however there also exists a
secondary peak at around 3 months postpartum
• With prompt and appropriate treatment 2/3 of illnesses will resolve within 2-3 months  without treatment,
it can take 6 months or longer to recover
• If a women has suffered from a previous severe depressive illness or postnatal depressive illness  then risk
of developing a further illness following this delivery is around 50%
POSTPARTUM PSYCHOSIS
• In the general population  the risk of postpartum psychosis is 0.2%
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• Postpartum psychosis is characterised by sudden onset of behavioural disturbances, hallucinations, delusions,
fear and perplexity
• Onset
o 50% present by day 7
• Due to early and sudden onset of postpartum psychosis  it is essential that wherever possible at-risk
women are identified antenatally, so their risks can be effectively managed
• 99% of postpartum psychoses are either bipolar or schizoaffective disorder
• Risk of postpartum psychosis after delivery is 50% if the woman suffers from bipolar affective disorder or
previous postpartum psychosis
• Postpartum psychosis has a good short-term progress  however it is associated with significant morbidity
and mortality  generally requires admission to a Mother & Baby Unity for high intensity physical and
psychological care
TIMING OF PSYCHIATRIC ADMISSIONS
Basic knowledge of the treatment of common psychiatric disorders during pregnancy and after childbirth
SCREENING
• Who to refer
o All women with previous or current
▪ Schizophrenia or psychosis
▪ Bipolar disorder
▪ Postpartum psychosis
▪ Severe depression
o All women on mood stabilisers
o Any women with a FHx of bipolar affective disorder or schizoaffective disorder AND personal hx of any
psychiatric disorder
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• Due to the severity and the potential abrupt onset of serious mental illness in the peripartum period  the
management must be proactive
• A birth plan for each patient should be in place by 35 weeks gestation  this should include
o Monitoring her mental health immediately following delivery
o A requirement for liaison between all health professionals
o Use of prophylactic medication  where appropriate
o Consideration of child protection
o Emergency contact details
Aware the effects of mental illness and its treatment (e.g. medication) on the developing foetus and the infant including
possible risk
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Generic Skills CP2 Learning Objectives Health Care of Later Life
HEALTH CARE OF LATER LIFE LEARNING OBJECTIVES

GENERIC SKILLS
Understand the need and demonstrate the skills involved to communicate clearly, sensitively and effectively with older
patients, their relatives or other carers, regardless of their age or their disabilities
To respect all patients, colleagues and others regardless of their age
Recognise the rights and the equal value of all people and how opportunities for some older people may be restricted by
others' perceptions.
To communicate clearly, sensitively and effectively with older patients, their relatives or other carers, regardless of their
age or their disabilities and colleagues from the medical and other professions using spoken, written and electronic
methods.
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Population Ageing CP2 Learning Objectives Health Care of Later Life
POPULATION AGEING
eLearning: Population Ageing – Ageing Issues
Describe the epidemiology of ageing globally and nationally

• The UK has an ageing population  the proportion of adults over the age of 65 is growing whilst the
proportion of people under 16 is falling  the over 100s is the fastest growing age group
• By 2033, England and Wales is expected to have 64,200 people aged 100 or older compared with only 9600 in
2008
• An ageing population  one is which there is an increase in the proportion of older people with a
corresponding decline in the proportion of children and young adults
• There were many dramatic changes in the population of the UK and the rest if Europe during the 20th century
 these changes continue to have an impact today  health care services will continue to be affected by
population changes well into the 21st century
• Definitions
o Total fertility rate  the expected number of children born per women in her child-bearing years
o Replacement level  the number of children required to join the population to replace each couple
o Perinatal mortality rate  the number of stillbirths and deaths of children under one week of age per
1000 live and still births
o Birth rate  the number of live births per 1000 women in the age group 15-44 years
o Expectation of life birth  the average number of years which a new born baby can be expected to
survive if current mortality rates continue
EPIDEMIOLOGY
• In 2006, 11.3 million people in the UK were over the state pension age (65 for men & 60 for women)  this is
expected to rise to 12.2 million in 2011, to over 13.4 million in 2026 and increasing to 15.0 million in 2031
• 96% of people over state pension age live in their own homes in the community  so community health and
social care services are vital in helping people who wish to live in their own home to remain there even when
they are in poor health or have physical/mental health needs
• Many older people are cared for at home by their partners or other family members  this happens even in
the oldest age groups  around 4000 people aged 90 or over are providing 50 or more hours of unpaid care
per week to another family member or friend  although only 26% of people aged 90 or over who live in
private households are men, they make up just over half of carers in this age group
• Expectation of life at birth is used as an indicator of the state of a nation’s health  the average number of
years which a new born baby can be expected to survive if current mortality rates continues  dramatic
increases were observed in a number of countries during 20th century
Expectation of Life at Birth

Year Males Females
1901 45.0 48.7
1931 57.7 61.6
1961 67.8 73.6
1991 73.2 78.7
2001 75.7 80.4
• Individual ageing is an inevitable and universal process, but changes to the age structure of a population are a
response to social, economic and other conditions  populations can become younger or older depending on
the impact of these conditions
• In 2006, 20.5 million people in the UK were over 50  changes in the age structure of the UK population are
causing concern about how the working population of 2040 might support those in the older age group
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Discuss the principles underlying the development of health and health service policy related to old age
SURVIVAL IMPROVEMENTS
• There are increasing numbers of older people in the population because of improvements in survival over
many decades  two kinds of improvements have occurred
o Reduction in childhood & infant mortality  eg. perinatal mortality
o Reductions in mortality during adulthood
• Improvements in living standards and many other social and economic determinants of health, in addition to
improving health services, contributed to declining childhood mortality rates in the 20th century
DETERMINANTS OF HEALTH
• Dahlgren and Whitehead’s illustration summarizing the Main Determinants of Health (1991) reminds us how
the environment in which we live impacts on our health
• Agriculture & Food production  20th century saw considerable improvements in the nation’s diet  when
rationing was introduced towards the end of the WW1, the diet of the nation improved because rationing had
the effect of ensuring a fairer distribution of food and of keeping the price down
• Education  the Fisher Act of 1916 made education compulsory up to the age of 14, which was increased to
16 in 1960s  in addition to combating the health effects seen from intensive child labour, the spread of
education is accredited with allowing citizens to make lifestyle choices which would benefit their health
• Work environment  health & safety legislation has improved safety in the workplace
• Unemployment  the impact on health of poverty and low income as a result of unemployment are well
known  the depression in Britain between 1929-1932 followed the wall street crash in the US in 1929
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• Water sanitation  in the UK, closed sewers were first constructed in 19th century, but many citizens
remained dependent on dry toliets and pumped water well into 20th century  currently 100% of UK
households have access to clean water and 94% are connected to networked sewerage  the implications for
public health of this shift were considerable
• Health Care Services  the NHS, providing universally healthcare free at the point of access did not emerge
until 1948  the number of state-sponsored universal healthcare interventions proceeded it
FERTILITY RATES
• There has been an overall decline in birth rates during the 20th century
• Thousands of young men died during WW1  leading to a reduction in the number of marriage opportunities
for young women in Britain
• The Wall Street Crash of 1929 in the US led to a grave economic crisis in Britain  this was accompanied by
widespread unemployment  fertility rates are notoriously affected by economic circumstances  a steep
decline was observed in birth rates at this time
• Following demobilization at the end of WW2 the birth rate began to rise again leading to the “post-war baby
boom”  birth rates continued to rise to reach a peak in 1964  this has been attributed to women marrying
at a younger age during the so-call “permissive” years of the 1960s
• The steep decline in the 1970s can be attributed to
o Contraception  there were improvements in contraceptive technology and the pill became more
widely available  changes in society also meant that unmarried women were for the first time able
to receive contraception advice
o Oil crisis  an oil crisis in 1973 resulting from a war in the Middle East had a considerable impact on
the birth rate in Britain  women were using contraception to postpone child bearing during the
economic crisis and they continue to do so after the economy has recovered
o Abortion Act  the Abortion Act of 1969 came into force in the 1970s making termination of a
pregnancy legal and this also had an impact on birth rates
o Women working  the changing position of women in society mean that women’s position in the
workplace was changing  in the years up to 1950s, public service employees had to leave their jobs
when they go married – this changed in 1970s
• The lower birth rates at the end of the 20th century meant that fewer children were coming into the
population, leading to the older people becoming a larger proportion of the whole population  birth rates
have been below replacement level in the UK since 1970s
• This steep decline in the birth rate has been sustained  it is these low fertility rates combined with the post-
war baby boom that have led to recent concerns about the ability of the population of working age in the
future to support the older population  the funding of both pension provision and long stay care is being
reviewed by the Government
Country Total Fertility Rate

World Average 2.56
UK 1.84
Spain 1.43
Japan 1.27
Nigeria 7.15
Australia 1.83
Brazil 1.90
Discuss the consequences for health, social and economic policy
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Healthy Ageing CP2 Learning Objectives Health Care of Later Life
HEALTHY AGEING
eLearning: Promoting Physical Activity 1 & 2 – Ageing Issues
Explain the role and evidence base of physical activity in maintenance of health
• Physical activity has been defined as “any force exerted by skeletal muscle that results in energy expenditure
above resting level”  this includes “the full range of human movement, from competitive sport & exercise
to active hobbies, walking and cycling or ADLs”
• Sedentary  a person who takes less than 30 minutes of activity per week
• Globally, the prevalence of physical inactivity among adults is 17%  in England, the prevalence of physical
inactivity is twice that ok smoking or hypertension
• WHO estimates that around 3% of disease burden and 1.9 million deaths in developed countries are caused
by physical inactivity  it is estimated that around 35,000 people in Britain die every year due to physical
inactivity
• The global prevalence of physical inactivity is 17%  however this is one of the more conservative estimates
 when higher cut-offs for physical activity are applied, WHO estimate the prevalence in some developed
countries to be 51%
• The cost of physical inactivity in England has been estimated at £8.2 billion annually  this includes the direct
costs of treatment for the major lifestyle-related diseases and the indirect costs caused through sickness
absence  its does not include the contribution of inactivity to obesity which has been estimated at £2.5
billion each year  it also does not include the cost associated with frailty and loss of function amongst older
people, so could be an underestimate of the true economic burden of a sedentary lifestyle
• Physical inactivtyi is associated with
o Colorectal cancer
o Type 2 DM
o Hypertension
BENEFITS
• Exercise is a recognised treatment for:
o Obesity o Hypertension
o Dyslipidaemia o Sarcopenia
o Osteoarthritis o Ischaemic Heart Disease
o Insulin resistance o Intermittent Claudication
o Osteoporosis o Heart failure
• Exercise plays a part in the prevention of disease, disability, complications of immobility and isolation
• Walking has been shown to improve life expectancy
• Diet and exercise significantly reduce the incidence of development of diabetes
• Endurance predominant activity can prevent both the development of hypertension and reduce blood
pressure in hypertensive individuals
• Physical activity leads to reduced obesity and improved lipid profiles, insulin resistance and endothelial
function
• Physically active adults have a lower risk of cancer with the strongest evidence for a reduction in colon cancer
and also a reduced risk of breast cancer among females
• Physically active people have a lower incidence of stroke compared to inactive adults
• Considering secondary prevention, there is good evidence that supervised exercise programs can reduce
mortality rates following MI  also can be used in the treatment of heart failure and intermittent claudication
• For older people, keeping physically active can be important in disease prevention and also in promoting or
maintaining independence
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• Evidence in older people for physical activity reducing all cause mortality, cardiovascular disease and diabetes
is as convincing as that in younger adults
• Physical activity can improve strength, balance and coordination in older age helping to prevent falls, reducing
complications of immobility and helping to maintain independence for activities of daily living
• Active lifestyles provide opportunities for recreation and social activity  this can increase social
participation, improve quality of life and prevent depression
• Regular physical activity can also slow cognitive decline
• Those who are less active enter nursing homes earlier than those who maintain their fitness
ACTIVITY LEVELS
• Activity levels vary in older age and depend on both the age and fitness of the person
• Many older adults participate in little physical activity and may have already developed inactivity-related
diseases and conditions  other may participate in high levels of physical activity well into their later life,
beyond the age of 80
• NHS choices promotes increasing activity levels  tennis, badminton, dancing and walking, etc…
• Older people are generally less active than the general population
o 29% of men & 21% of women aged 55-74 years participate in the recommended levels of physical
activity  compared with 41% of men & 32% of women overall
o 33% of men & 38% of women aged 55-74 years are sedentary  compared with 23% of men and
24% of women overall
o Among the 80s  40% of men & 65% of women are sedentary
o Among the 75s  9% of men & 4% of women achieve the recommended physical activity guidelines
• Nearly 50% of women and a significant proportion of men do not have the aerobic capacity to walk
comfortably at 3mph  the functional decline seen in older adults is exacerbated by physical inactivity.
• Among adults older than 65, 12% cannot walk outside independently and 9% cannot manage stairs
• For those aged between 65 and 74, approximately 30% of men and 50% women have insufficient quadriceps
strength to stand from a low chair
• The majority of care home residents are classed as inactive  approximately 50% of local authority
residential homes residents rarely leave the home  inactivity levels are highest in care homes with nursing,
lower in care homes without nursing and lowest in private households.
• For older people, activity levels need to be carefully tailored to their ability and level of independence
FUNCTIONAL CAPACITY
• Even healthy older people lose functional capacity  these areas can be lost with age
o Kinesthetic awareness  is an individual’s conscious awareness of body and joint position in space
o Thermoregulation  regulation of body temperature
o Muscle strength  refers to the amount of force a muscle can produce with a single maximal effort
 sedentary individuals exhibit a decrease in strength of about 1% per year from their 50s and
approximately 3% per year after 70 years of age
o Aerobic capacity  VO2 max is the maximum amount of oxygen the body can use during a specified
period, usually during intense exercise  aerobic capacity has been shown to decrease at about 10%
per decade
o Flexibilty  is the absolute range of movement in a joint or series of joints  loss of flexibility can
lead to balance problems
o Muscle power  the efficiency of muscle contraction  muscle power is ‘lost’ at 3-4% per year
o Bone density  refers to the amount of matter per cubic centimeter of bone  bone density is ‘lost’
at 1% in men and 2-3% in women after menopause
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o Proprioception  the unconscious perception of movement and spatial orientation arising from
stimuli within the body itself
CATERGORISING PHYSICAL FUNCTION

• Frameworks exist to help classify older people into groups according to their physical activity needs  one
framework is the WHO ‘Heidelberg Guidelines’, which divides individuals into 3 groups
o Group 1  physically unfit, frail – unhealthy dependent
▪ These individuals are no longer able to function independently in society due to a variey of
physical and/or psychological reasons
▪ Appropriate physical activity can significantly enhance their quality of life and restore
independence in some areas of functioning
o Group 2  physically unfit – unhealthly independent
▪ These individuals are not engaged in adequate physical activity
▪ While they are still living independently, they are at high risk of developing chronic medical
coniditons which may threaten their independence
▪ Regulr physical activity can improve functional capacity and prevent loss of independence
o Group 3  physical fit – healthy
▪ These individuals regularly engage in appropriate physical activity
▪ They can be described as physically fit and can participate in all activities of daily living
• Hierarchy of physical function
o Elite  these people may participate in sports competitions for senior adults, high risk sports and
power exercises
o Fit  these people may participate in moderate intensity physical work, take part in endurance sport
or engage in most hobbies
o Independent  these people may engage in very light physical work, some hobbies (walking or
gardening), low physical demand activities (golf, social dance or handcrafts) and pass all instrumental
ADLs
o Frail  these people may engage in light housework, food preparation, grocery shopping and can
pass some instrumental ADLs and all basic ADLs, though they may be housebound
o Dependent  these people cannot pass some or all basic ADLS, such as walking, bathing, dressing,
eating or transferring  they may need home or institutional care
CAUTIONS
• Embarking on new forms of exercise, especially for sedentary individuals is not without its difficulties  the
most common risk of exercise is musculoskeletal injury or falls
• Suitability of type of exercise will depend on where a person fits in the hierarchy of physical function  there
are absolute and relative contraindications to physical activity in older people and these are often disease
specific.
• Older adults may need a pre-exercise medical assessment with adaptations made to the recommended
guidelines  for frailer adults, a graded stepwise approach should be taken.
• A priority is to develop patient specific exercise programmes.
RECOMMENDED GUIDELINES
• The current recommended adult guideline for physical activity is “30 minutes of at least moderate intensity
physical activity on at least 5 days a week”
• This guidelines was developed by The Physical Activity Task Force in 1994  reinforced in multiple policy
documents – 1999 Health Education Authority Guidelines and 2004 Chief Medical Officer Recommendations
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• There are no specific guidelines for older adults in the UK and the CMO guidance is that the guidelines for all
adults are appropriate  WHO has published guidelines for adults >60 y/o that recommend building up to at
least 30mins of aerobic exercise on most if not all days  UK guidelines are in line with other international
recommendations (Australia, Canada & US)
• Moderate intensity implies the HR and RR should increase so a person will feel and increased warmth, but
should still be able to maintain a conversation
• The recommended 30 minutes can be achieved in one session or in several shorter sessions of 10 minutes,
etc..  even the smallest amounts will bring some benefit and it is never too late to start exercising
• Higher success rates will be achieved in adults partaking in activities they enjoy and ones that can be
incorporated into daily routines
TYPES OF ACTIVITY
• Physical activity can be divided into the following components
o Endurance (aerobic) activities  CVRS exercise increase the HR and improve health of the health and
lungs and improve circulation  these activities may include cycling, swimming, brisk walking, heavy
housework or gardening  the recommendation is for adults to undertake moderate intensity aerobic
physical activity for a minimum of 30 mints on 5 days a week
o Muscular strength and power exercises  these activities can help to offset bone loss and assist older
people in performing activites of daily living, such as climbing stairs, rising from a chair and moving
household objects  the recommendation is that strengthening exercises should be performed on 2-3
days per week, with a day of rest between work-outs
o Bone building exercises  these exercises help to stimulate bone activity by working against gravity
and my be specific exercises targeted at the main fracture sites, such as the spine, hip and wrists
o Balance exercises  important as they can help to prevent falls  they can be incorporated into
strength exercises (Tai Chi or aqua-aerobics)  although no exact specification to the amount of
balance exercise has been proposed in guidelines, the general consensus is that older adults with
substantial risk of falls should perform exercises that maintain or improve balance and 3 occasions per
week would seem to be efficacious
o Flexibility exercises  stretching is important since it helps to keep the body supply and flexible 
this helps older people to keep a wider range of movement and maintain their ability to perform
everyday tasks  stretching of all the major muscle groups should always be done before and after
strengthening or aerobic exercise  the recommendation is that stretching should be carried out
before and after any endurance or strengthening activities or is such exercises are not possible an
individual should perform activities that maintain or increase flexibility on at least 2 days a week for at
least 10 minutes a day
• Physical activity can be achieved by people of all abilities although the methods employed may depend on
limitations and impairments  the various methods include
o Continued or renewed sports participation and active recreation including fitness, exercise and dance
activities
o ‘Active Living’  including walking, cycling, swimming and gardening
o Assisted corridor and ward walking, or activities in the hydropool
o Chair-based activities
POLICY
• Promoting physical activity with older people is an important factor, which is considered in the
implementation of a wide range of both local and national policies  these policies relate to a number of key
areas
o Physical activity  such as sport, leisure and recreation
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o Active ageing  such as non-governmental agencies and voluntary and independent sector
o Health promotion  such as health promotion services for older people, primary healthcare and
hospitals
o Local Government Services  such as health & social care services, environment and planning
• Together these policy frameworks have a number of common themes indicating how physical activity can
contribute towards better quality of life for older people
• These themes includes:
o Promoting independence and mobility
o The importance of engaging and consulting with older people
o Improving and integrating services for older people
o Social inclusion and addressing health inequalities
o Developing strategic partnerships
o Preventing ill health, disease and disability
o Preventing accidents among older people
• The National Service Framework for Older people encompasses ‘promoting an active and healthy life’ as one
of its key themes  whilst the promotion of physical activity may relate to may of the 8 standard of the NSF,
the four standards below can be directly related to promoting physical activity
BARRIERS TO KEEPING ACTIVE

• Many older people are capable of being more active but report barriers to increasing their activity levels 
these are often things that can be dealt with by providing information or simply encouragement and
reassurance
• Barriers are often described as intrinsic (internal) or extrinsic (external)
• Intrinsic barriers  may include negative previous experiences, concerns about the possibility of harm or
over-exertion, concerns about facilities or a lack of confidence  these barriers are best addressed by
individuals working directly with the older person to provide education, motivation or programme planning 
this might be a nurse, GP, health visitor, peer mentor or health champion
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• Extrinsic barriers  related to the environment, available opportunities and attitudes of other people 
these may include skills and attitudes of advisors, the facilities or opportunities available and access to them,
concerns over cost, transport or personal safety and sport or recreation policies  these concerns are more
likely to be addressed by those responsible for policy and strategic developments relating to older people
• Intrinsic barriers
o Enhance self-efficacy & confidence  provide opportunities to try things out
o Provide information around life events  timing of guidance can be important, eg. work pre-
retirement programmes, guidance at the onset of illness or disease
o Emphasise the non-health benefits  this involves the social aspects of physical activity  emphasise
personal goals
o Provide education, advice and information  provide information about how to get started, how to
find out what is available and how to exercise safely
o Change perceptions of what it means to be active  daily moderate activity can benefit health 
even small changes can make a difference
o Provide reassurance  about over-exertion & injury, specific advice after illness and personal
assurance that it is never too late to start
• Extrinsic barriers
o Physical environment  increase the number of exercise classes and groups for older people,
improve physical environment to encourage walking or cycling and improve transport options and
safety of neighbourhoods
o Social and cultural environment  community eventys promoting activity for older people, public
education to change perceptions of older people and establish walking groups and buddy systems
o Organisations and institutions  encourage GPs and nurses to assess physical activity levels ad
promote active lifestyles, give healthcare providers access to materials to assess and counsel patients
over 50 about activity and raise awareness amongst staff in older people’s services
o Media & communications  provide information on physical activity and local opportunities, in
languages and formats accessible to all older populations  identify the best channels for
communication to lower income & minority groups  create information cues for public places
o Create positive images of older people  promote positive non-stereotypical images of older people
and use activity ambassadors or physical activity role models from same population
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Care Givers CP2 Learning Objectives Health Care of Later Life
CARE GIVERS
Describe the epidemiology of care giving
• Carer  a person who looks after a relative or friend who needs support because of age, physical or learning
disability or illness, including mental illness  must be a lay person rather than a health or social care worker
• 1 in 8 adults are carers  approx. 6.5 million people  by 2037, this is expected to increase to 9 million
• Each day another 6000 people will take on a carer role  2 million per year
• 58% are women and 42% are men  peak age = 50-59y/o (20%), but rising number of carers over 65y/o
• 3 million carers are working age  but 1 in 5 of those will be forced to give up work
• 1.3 million people provide over 50hrs a week
• Families from Bangladeshi & Pakinstani communities are x3 more likely to provide care compared with their
white British counterpart  they are more likely to provide longer hours of care too
• Percentage of care givers
o Parents or in laws  40% o Other relative  7%
o Spouse/partner  26% o Grandparents  4%
o Friend/Neighbour  9%
You will be expected to explain the sociological factors that contribute to illness in old age
• Old age is accompanied by role change and often role loss  most people can expect transformation in
occupational, family & community roles  for many the number of different roles declines in later life
• Some of the major contributors to social & psychological problems for older age people are
o Loneliness from losing spouse and friends
o Inability to independently manage regular activities of living
o Difficulty coping and accepting physical changes of ageing
o Frustration with ongoing medical problems and increasing number of medications
o Social isolation as adult children are engaged in their own lives
o Feeling inadequate from inability to continue to work
o Boredom from retirement and lack of routine activities
o Financial stresses from the loss of regular income
• These factors can have a negative impact on overall health of an older individual  addressing these
psychological problems is an integral component of old ages’ complex medical care
You will be expected to discuss sociological concepts of health, illness and disease as they apply to the common
conditions of old age
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Discuss the experience of care giving
• Changing roles
"Throughout my life Mum's been there to look after me, even after I got married Mum was around to help me
and support us. Now the tables are turned and it's my turn to look after her. I don't begrudge it but sometimes
I miss my Mum as she was."
• Dealing with the rest of the family
"Dealing with my brothers is as much of a stress as dealing with Mum. One of them seems happy to let me get
on with it, he says it's "too painful" to see Mum like this and that's why he doesn't visit. My other brother is the
opposite, he lives 200 miles away but he phones me daily wanting updates and sticking his oar in with advice
on what I'm doing wrong. He means well but it drives me potty."
• Juggling care with work
"It's a full time job trying to help Mum organise her care - we've had umpteen meetings with doctors,
consultants, therapists, social workers - whilst I'm also trying to hold onto my own job. I just can't afford to
give up work - my eldest has just started Uni and we need the money. My boss has been understanding but I
hate feeling like I'm letting them down."
Recognise the clinical, organisational and legal management of care givers’ problems
IMPACT OF CARING
• People providing high levels of care are twice as likely to be permanently sick or disabled
• 625,000 people suffer mental and physical ill health as a direct consequence of the stress and physical
demands of caring
• A survey of carers showed
o 83% had negative physical health effects including manual handling injuries
o 87% had negative mental health effects including stress and depression
o 2 in 5 said they put of their own visit to GP or treatment due to absence of alternative care
o Longer you have been caring more likely the health deterioration
• A feeling of isolation is common
o 37% care without support from socila service or friends and family
o 29% cared withhelp from family but not social services
o 4 in 10 said they had not had a day off from caring in 18months or a holiday in last 5 years
• Most carers feel as if their role has a negative impact on relationships with friends and family  worries
about asking other family members to step in & help
• Financial impact
o Reduction in work hrs or needing to give up work
o Disability benefits do not cover costs
o Many pay for care needs themselves
o Losses can be up to £30,000 a year in earned income especially if carer is working age
o State of caring survey found
▪ 74% struggle to pay household bills
▪ 78% could not afford repairs to their house
▪ 52% were cutting back on food
▪ 32% ubable to pay rent/mortgage
▪ May also need to pay for specialist equipment
SUPPORT FOR CARERS

• Social services
o Assessment for patient
o Separate assessment for carers own needs
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o Assessment does not always mean on the ground support
o May help put carer in touch with respite homes etc
• Financial
o Carers allowance = £58.45 per week = £1.71 per hour – less than minimum wage
o Must care for at least 35 hours per week and earn no more than £100 a week
o Patient must be receiving the correct disability benefit
o Flat rate
• New Initiatives
o Elder care packages supplied by employers
o Up to 20 days of assistance a year from a carer to take elderly relatives of employees to clinic
appointments etc
o Sainsbury’s, British gas and NHS england are just some of 70 organisations have signed up
o Works similar to company child care schemes
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Long Term Care CP2 Learning Objectives Health Care of Later Life
LONG TERM CARE

Describe the epidemiology of long term care
• Long-term care presents some particular challenges, which demands particular solutions, knowledge & skills
• Informal care  unpaid help from family, friends and/or neighbours to the elderly who require long-term
assistance with ADLs (inc. instrumental activities) largest group of carers among informal carers
• Partners & children most common informal carers
• Women  predominant as carers both formal & informal  never below 70%
• Men  take care of partner above all other relative and usually take on caring tasks at a later stage
• Largest in 45-65 year old age group  but this group are remaining in the labour market longer (?care gap)
• Most commonly takes place in home of the recipient  often the difference for recipients between staying
at home and moving into care
• Care recipient living with family are more like to receive informal care than those living alone
• Growth in the number of older people living along might increase the demand for formal care services in the
future  living along becomes more frequent as people age, and women are living alone longer, especially
once they reach the age of 75
• More women survive to old age than men  so more women receive care than men, especially in
institutional care
• Living alone is positively related to instituionalisms, but not to receiving formal care at home
Discuss the social and economic policy of care homes

• About 400,000 elderly people are in residential care in UK
• About 4,000 residential homes are Nursing homes – hence 50,000 – 100, 000 elderly people
• Nursing homes are run by:
o local authority – 17%
o voluntary – 21%
o private – 63%
• Used to be run by local authorities, but have now been pushed out private chains of care homes.
• There is part funding still by local authorities or social services after assessment  for health reasons the NHS
may fully or partially fund the health care component of care.
DIFFERENT APPROACHES TO LONG-TERM CARE

• By country
o Cash benefits  Austria, Germany, Italy & Czech Republic
o Mean-tested  UK
o Public provision of care services  Sweden, Denmark
• More details
o Cash benefits: within the tax envelope  Austria, Czech Republic
o Cash benefits through social insurance  Germany
o Regulated  France
o Unregulated allowances  Italy)
o Universal public provision of care  Denmark
o Targeted “universalistic” provision of care  Sweden
o Provision of care (institutions):
▪ Public  Sweden
▪ Private “for profit”  Spain, UK
▪ Private “non‐profit”  Germany
• Funding models and regulation are subject to frequent and ongoing review
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• Public resources for long-term care is still low  EU15 spends 7.6% on health and 9.1% on old-age pensions
 excess money is mostly going to institutional care
• Long-term care, especially institutional care, places a financial burden on users
• Cash for care schemes are spreading, but pose policy questions  eg. Unregulated care markets &
employment
COMMON PROBLEMS WITH CARE HOMES

• Older people are very complicated
• Trajectories are difficult to predict
• HCP in care homes don’t have the training
• Resources are tight
• Regulation is always present
• Roles & responsibilities aren’t clear
• Communication is a problem
FUNDING FOR CARE HOMES

• 42% self-funding, 52% state social care funded & 7% NHS funded
• If total assets < £14,000 state pays all fees, but if total assets > £23,000 resident pays all fees  sliding scale
between these limits.
• Average UK house price: £168,202
• 25% require a third party top-up.
MONITORING STANDARDS
• Care Standards Act 2000
• Care Quality Commission - 2008
• Visits (some unannounced)  looking at
o Choice of home o Environment
o Health and personal care o Staffing
o Daily life and social activities o Management and administration
o Complaints and protection
List the characteristics of residents of care homes

DEFINITIONS
• NHS continuing care  a package of care that is arranged and funded solely by the NHS for individuals who
are not in hospital and have been assess as having a ‘primary health need’
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• Community matron  a nurse who provides advances clinical nursing care in addition to case management of
an identified group of very high-intensity users through case finding  usually with long term conditions
• Intermediate care  services provided to patients (generally older) to help them avoid hospital admission
unnecessarily, to help them to be as independent as possible after discharge from hospital and to prevent
them having to move into residential or nursing homes until they really need to
• Interim care  temporary care to aid the transition from hospital to home
INSTITUTIONALISM
• Institutionalisation  the committing by a society of an individual to a particular institution
• In hospitals and care homes they often run on schedules that are unchanging and that the residents or
patients do not have any control over
• Sociologists came up with the term Institutionalisation for this situation, where people are in environments
like this for an extended period of time  the same is said of prisons
• These people do not have complete autonomy  in same cases it may be a consensual decision  but often
in the case of elderly people other people/organisations make these decisions for them  due to falls, unable
to manage money, can’t cope with health, etc..
• Psychologists have actually said that inflexible systems of social and medical management by organisations
can lead to damage to the vulnerable human beings in these situations
• It is thought that there is a process of becoming accustomed to life in an institution so that it is then difficult
to resume normal life after leaving  especially with autonomy, privacy and dependence
Explain the delivery of health care in care homes

• GP deliver care as part of GMS  GP:care home ratios vary 1:1-1.5  reactive care models predominate
• MDT access is limited  roles & responsibilities aren’t clearly specified
• There are two types of care homes
o Residential care home  range in size from very small homes with few beds to large-scale facilities 
offer care and support throughout the day & night  staff help with washing, dressing, at meal times
and with using the toilet
o Nursing home  this type will normally offer the same type of care as a residential care home, but
with the addition of 24hr medical care from a qualified nurse
• Across the NHS there are numerous approaches to health care provision for this sector including:
o General medical services (GMS) provided by local GP practices
o Linked community services
o Outreach clinics
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o Care home specialist nurses or support teams
o Pharmacist-led services
o Designated NHS hospital beds
o Enhanced payment schemes for GPs
• Whilst there is a good understanding of many of the barriers and facilitators affecting how health care
services work with care homes  the recurrent issue is how to embed and sustain productive patterns of
working between health care services and providers of care for 376,250 over 65year olds living in 10,331 care
homes which vary in size, ownership, funding sources, focus, organisational culture and presence or absence
of on -site nursing
• The 2010 CQC survey of Primary Care Trusts found that current patterns of NHS service delivery are disparate,
lacking a coherent rationale or frameworks that could support review or audit of quality or of cost-
effectiveness
• At the time of this survey 40% of Primary Care Trusts in England were using Local Enhanced Service payment
to incentivise GP practices to provide services to care homes  however, the survey could not establish how
many care homes benefited from this extra investment or in what ways  for example, the same payments
could have been used to develop and expand work in care homes or address a gap in GP provision
• The survey found no evidence of governance or outcome targets that were care home specific.
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Legal & Ethical Issues CP2 Learning Objectives Health Care of Later Life
LEGAL & ETHICAL ISSUES

eLearning: Mental Capacity Act – Assessment of an Older Person
Use medical principlism as an ethical framework for medical decision making

• Beauchamp & Childress  the four principles of biomedical ethics
o Respect for autonomy  respecting the decision-making capacities of autonomous persons 
enabling individuals to make reasoned informed choices
o Beneficence  this considers the balancing of benefits of treatment against the risks & costs  the
healthcare professional should act in a way that benefits the patient
o Non-maleficence  avoiding the causation of harm  the healthcare professional should not harm
the patient  all treatment involves some harm, even if minimal, but the harm should not be
disproportionate to the benefits of treatment
o Justice  distributing benefits, risks and costs fairly  the notion that patients in similar positions
should be treated in a similar manner
Define mental capacity and discuss the implication of the mental capacity act
• Mental capacity  means a person’s ability to make their own choices and decisions  under UK law,
someone’s capacity is judged according to the specific decision to be made, so a person may have sufficient
capacity to make simples decision but not more complicated ones
• Consent  staff should make an assessment of whether a person does or does not have capacity to consent
to care or treatment  staff will now know whether they are acting with or without consent if they do not do
this assessment  therefore, assessments of capacity are an integral part of any assessment about
healthcare or treatment
• 5 main principles of MCA
o A presumption of capacity
o The right for individuals to be supported to make their own decisions
o It should not be assumed that someone lacks capacity simply because their decisions might seem
unwise or eccentric
o All decisions should be made in a patient’s best interest
o If someone lacks capacity, all options must be considered before a decision is made  the option
chosen should be the least restrictive of their basic rights & freedoms
• Important questions for determining capacity
o Does the person have impairment/disturbance of the mind or brain affecting how it works? 
Dementia, Learning disability, mental illness, delirium/unconscious, stroke, alcohol/drugs, head injury
or neurological disorder/long term brain damage
o If yes – does that mean that the person is unable to make the decision at the time it needs to be
made?
o If yes – in order to provide evidence that someone lacks mental capacity the following must be
considered  NB – if a patient cannot demonstrate 1 of these they are deemed to not have capacity
▪ Understand
▪ Retain
▪ Use
▪ Communicate
• Examples of when a patient’s capacity might be questioned
o Patient refuses intervention
o Patient want sot go home with no support but cannot cope
o Puts self at risk  seems unaware of own limitations
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o Patient is confused and does not answer questions appropriately
o Family members report concerns over patient’s cognitive state
• ICF  International Classification of Functioning, Disability and Health (ICF) of the World Health Organization
 the ICF Checklist is a practical tool to elicit and record information on the functioning and disability of an
individual  this information can be summarized for case records
Employ decision making in the absence of mental capacity (best interests)

• A patient’s best interest in established by considering:
o Is the person likely to regain capacity & when?
o Maximise participation in process
o Past and present wishes of person
o Their beliefs, values and other factors
o Views of carers’ and other nominated or appointed persons
• When determining ‘best interests’, you must not base the decision on the person’s age, appearance or make
unjustified assumptions based on their condition
• Provide clear and objective reasons as to why you are acting in the persons best interests  take account of
any views of IMCAs
List and describe the other provisions of the Mental Capacity Act 2005 (Independent Mental Capacity Advocates, the
Court of Protection, Advance Decisions to Refuse Treatment, Lasting Powers of Attorney)
• Advance directive to refuse treatment (ADRT)
o A refusal made by a person, aged >18yrs, with the necessary capacity, of any medical, surgical or
dental treatment or other procedure and intended to have effect at any subsequent time when he or
she may be without capacity to give or refuse consent
o Can only refuse, not demand treatment
o Must consider, but not legally binding
o Made whilst have capacity  only relevant when loses capacity
• Lasting power of attorney: financial welfare (LPA)
o Allows patient to transfer their decision making should they lose capacity
o Capable adults appoint person(s) ahead of time to make decision for them lest they be unable to do
so themselves
o Two varieties  Property/Financial affairs and Health/Welfare
o Must be registered with the Office of the Public Guardian to be used
o Health & welfare LPAs can only be used with people once they are unable to make their own
decisions
• Independent Mental Capacity Advocate service (IMCA)
o Needed when nobody willing to advocate for them, lack capacity and major medical decision
(including DNAR) or long term placement proposed
o Only has the right to speak up for the patient, not to make decisions
o Duty to seek advice in connection with serious medical treatment
o Duty of NHS bodies/local authorities to seek advice before placement
• Court of Protection  specialist court for those who lack capacity to make specific decisions  appoints
deputies to make decisions in best interest – property, financial and health & welfare
DEPRIVATION OF LIBERTY SAFEGUARDS (DOLS)

• Article 5 of the Human Rights Act states that ‘everyone has the right to liberty and security of person  no
one shall be deprived of his or her liberty [unless] in accordance with a procedure prescribed in law’
• Aim to protect people who lack capacity from being inappropriately deprived of their liberty
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• To ensure patient being managed in least restrictive manner possible  provides us with no additional
powers, but is to protect vulnerable patients from unchallenged institutions
• Needed when patient lacks capacity, under continuous supervision and control in an institution and not free
to leave for significant length of time
• Put in place to make sure that a place only restricts someone’s liberty safely and correctly  is only done
when there is no other way to take care of that person’s safety
• The MCA allows restriction and restraint to be used in a person’s support, but only if they are in the best
interests of a person who lacks capacity to make the decision themselves  restrictions and restraint must be
proportionate to the harm the care giver is seeking to preveny
• Examples  restraint in hospital, medication against will, restricted friend/family viewing
Justify diagnostic disclosure in patients with dementia

• Family often prefer the patient not to be told, as worry the patient will be distressed and not understand 
despite agreeing they would want to be told themselves  healthcare professionals have similar concerns
• Patients with early dementia generally wish to be informed  those who have been told feel this is
preferable, though they may find it upsetting
• Positives of disclosing diagnosis
o Helps ascertain treatment preferences
o Make a Will/LPA/Advance Directive
o Helps plan for disability
o Avoids danger of colluding with family
o “a right to know” their diagnosis
o Better support and access to help psychological adjustment
• Diagnosis disclosure suggested guidelines
o Use a multi-professional approach to answer questions and make recommendations
o Consider telling patient and carer together
o Allow each separate time to talk and ask questions
o Arrange follow-up meetings to continue discussions
o Discuss how the disease might progress
o Agree a care plan
o Provide written educational materials
o Provide a list of community resources and contacts
o Arrange for further support, e.g. supportive counselling
Discuss the rules for driving in people with dementia

• Driving is a complicated task and the skills required and not simply correlated with a simple test of cognitive
function  such as MMSE
• Certain aspects of cognitive functioning will be more likely to lead to problems with driving  eg. visual-
spatial deficits, impaired judgement and executive functioning
• Collateral history helps  eg. carer view or accident
• SAFE DRIVE checklist
o Safety record o Reaction time
o Attention skills o Intellectual impairment
o Family report o Vision and visuospatial function
o Ethanol use o Executive functions
o Drug use
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• The patient is:
o Legally obliged to tell DVLA and insurance company when given a diagnosis of dementia or a doctor
advices them of the likelihood
o DVLA will undertake investigations
▪ Ask for GP & psychiatric records
▪ May need driving assessment
▪ 2 possible outcomes  new licence valid for 1yr or licence revoked
• CONFIDENTIALITY CAN BE BROKEN
• In order to drive safely, a person must use a range of mental abilities including:
o attention and concentration – to focus on, and switch between, multiple different driving tasks while
‘reading’ the road
o visuospatial skills – to keep to an appropriate speed and distance, and the right road position
o problem-solving skills – to respond to incidents, diversions or obstacles in the road
o judgement and decision-making – for example to interpret and anticipate what other road users are
doing
o reaction and processing skills – perhaps to act quickly to avoid an accident
• A licence holder who is diagnosed with dementia must contact the relevant licensing agency promptly, or risk
a ne of up to £1,000  not informing DVLA/DVA puts the person at risk of a fine and prosecution, as well as
the danger of driving without insurance and possibly having an accident  in these circumstances, the doctor
should try to persuade the person to stop driving and to notify DVLA/DVA (or get their permission to let the
family do this)
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Assessment of an Older Patient CP2 Learning Objectives Health Care of Later Life
ASSESSMENT OF AN OLDER PATIENT

Recognise non-specific presentations as indicators of homeostatic or system failure due to multiple pathology and
differential challenge
Demonstrate the ability to overcome sensory impairments and establish rapport with older patients
• Hearing
o Environment
o Hearing aids
o Speak slowly & clearly
o Try writing
• Vision
o Environment
o Glasses
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Demonstrate the assessment of a patient with cognitive impairment
• Cognition  the act or process of knowledge  this is an intellectual function involving the dynamic
organisation of thoughts and sensations, so that what is perceived is given meaning  intellectual processes
are function of the cerebral cortex  action & behaviour may indicate our level of cognitive function
• Assessing cognitive function can form part of the general patient assessment and clerking conducted on
admission to hospital  there are many standardised tests of cognitive function
o The Abbreviated Mental Test (AMT)  10 questions that evaluate attention, memory and orientation
 this is recommended for use in the first instance when a patient appears muddled or confused
o The MMSE  formulated as a useful screening tool to determine the cognitive function aspect of a
mental state assessment in older adults specifically  the purpose was to provide a standardised
quantitative test of cognitive aspects of mental function
• Areas of cognitive function
o Orientation
o Attention
o Registration
o Immediate recall
o Short term recall
o Language
o Ability to follow simple & written commands
MINI-MENTAL STATE EXAMINATION (MMSE)
• Cognitive function assessment plays a role in managing older patients both in the hospital and community 
should be an integral part of assessing a patient
• The tool that is most commonly used in the clinical practice in the UK to assess the cognitive function of a
patient is called Mini-Mental State Examination (MMSE)
• It is not a diagnostic tool, and there not equivalent to a neurological examination or formal mental status
testing  it does not assess personality, mood, behaviour or function  information indicating cognitive
deficits discovered should be shared with other members of the multidisciplinary team
• It is scored out of 30 and tests the same aspects as the AMT, but adds a constructional skill test, language and
provides greater detail
• MMSE has two sections and 19 questions  the 1st section covers orientation, memory and attention and has
a maximum score of 21  the 2nd section covers the ability to name and follow written and verbal commands
requiring written responses with a score of 9
• A score of 23/30 is the cut off for presence of Dementia in persons with at least 8yrs of education  low
scores are 0-20/30
• It can measure the progression of cognitive decline in patients with Dementia
• Can predict episodic memory performance in older patients without Dementia
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ADDENBROOKE’S COGNITIVE EXAMINATION (ACE-R)

• The ACE-R is a brief cognitive test that assesses five cognitive domains
o Attention/orientation
o Memory
o Verbal fluency
o Language
o Visuospatial abilities
• Total score is 100  higher scores indicates better cognitive functioning
• Administration of the ACE-R takes approx 15 minutes  the instructions have been designed in order to make
the questions and their scoring clear for the tester
MONTREAL COGNITIVE ASSESSMENT (MOCA)

• The Montreal Cognitive Assessment (MoCA) was designed as a rapid screening instrument for mild cognitive
dysfunction  ime to administer the MoCA is approximately 10 mins
• It assesses different cognitive domains
o Attention and concentration
o Executive functions
o Memory
o Language
o Visuoconstructional skills
o Conceptual thinking
o Calculations
o Orientation
• The total possible score is 30 points  a score of 26 or above is considered normal
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Iatrogenic Disease CP2 Learning Objectives Health Care of Later Life
IATROGENIC DISEASE
eLearning: Prescribing in Older Adults – Ageing Issues
Describe the epidemiology of polypharmacy and iatrogenic disease

• Polypharmacy is >4 medications  increased risk of non-compliance, ADRs, drug cascade and decline in
health
• Causes of polypharmacy
o Ageing
o Multi-morbidity
o Prescribing cascade
o Different prescribers
o Poor co-ordination/communication
• Risk factors
o With increasing age
o Multiple physicians
o Multiple hospital visits
o Co-morbidities
• The prescribing cascade  when ADRs are inappropriately diagnosed as a new medical condition and treated
with further medication
EPIDEMIOLOGY
• Approx 90% of older people are receiving prescription medication  often receiving multiple drugs for
multiple disease  greatly increases the risk of drug interactions and ADRs
• Prescribed medicines may account for
o 10-12% of all acute hospital admissions
o 6-17% of older people in hospital will suffer an ADRs
• 30% ADRs reported to the MHRA occur in the eldery
Describe the principles of altered pharmacokinetics and pharmacodynamics in older people

IMPORTANCE OF PRESCRIBING TO THE ELDERLY
• Altered pharmacokinetics
• Muliple co-morbidities
• Polypharmacy
• Side effects
• Compliance
PHARMACODYNAMICS
• Pharmacodynamics  how the drug interacts with the body to produce a response  eg. morphine binds to
receptors on a cell surface lading to a G-protein cascade, which in turn changes the function of certain ion
channels & enzymes, causing an overall blunting/blocking of the signal that transmits pain
• Increased sensitivity as people age to:
o Benzodiazepines
o Opiods
o Neuroleptics
• Decreased sensitivity as people age to:
o Beta-blockers
o Beta-agonists
o Furosemide
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• Example  Propranolol – attaches to the receptor on the cell surface as normal, however as someone gets
older changes to the environment inside our cells leads to reduced production of certain enzymes (cAMP)
therefore impairing the function of the beta-receptor
PHARMACOKINETICS
• Pharmacokinetics  what the body does to the drug and includes ADAM (absorption, distribution,
metabolism & excretion)
• With ageing, metabolism and excretion of many drugs decrease, requiring doses of some drugs to be adjusted
 this is especially important for drugs with a narrow therapeutic index, as even a small increase in dose can
lead to toxic effects
• Absorption  age-related changes in GI tract are not clinically significant as they do not affect the absorption
of most drugs
• Distribution  with ageing, total body fat increases therefore increasing the volume of distribution for fat
soluble drugs  total body water however decreases, decreasing the volume of distribution of water soluble
drugs  serum albumin also decreases and this increases the effects of albumin-bound drugs as the levels of
unbound drug increase as a consequence
• Hepatic metabolism  the majority of drugs are metabolised via the hepatic route  reduced liver volume
and enzyme activity means that hepatic metabolism of many drugs decreases  to prevent toxic
accumulation doses must be reduced or dosing interval should be increased
• Renal elimination  reduced GFR is important for drugs that are excreted via the kidneys  changes in the
GFR decrease the excretion of these drugs  eg. Digoxin is renally excreted with a narrow therapeutic index
that often requires a dose reduction as a patient gets older to prevent drug toxicity  to prevent toxic
accumulation doses must be reduced or dosing intervals should be increased
Practice the principles of good prescribing and medicines management in older people
• NSF recommendations
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o Gain maximum benefit from medication to maintain or improve their quality and duration of life
o Do not suffer unnecessarily from illness caused by excessive, inappropriate or inadequate
consumption of medicines
• Inappropriate prescribing is defined as
o Prescribing drugs which are contraindicated
o Prescribing a drug with an inappropriate dose or duration
o Prescribing a drug which is likely to adversely affect prognosis
o Failure to use a drug which could improve patient outcomes
• Inappropriate prescribing is more common in older people  this is due to older people having a higher
prevalence of chronic disease and therefore polypharmacy leading to an increased risk of drug-drug and drug-
disease interactions  additionally, age related physiological changes, such as reduced renal and hepatic
function and altered body composition
• Consequences of inappropriate prescribing
o Length of stay  IP can prolong the length of hospital stays
o Mortality & morbidity  IP can increase mortality & morbidity
o Adverse drug reactions  IP can increase the risk of ADRs which may account for up to 30% of
hospital admissions in older people
o Compliance  patients with poorer compliance when on multiple medications
• Older people are at higher risk of ADRs due to
o Impaired cognition
o Four or more co-morbidities
o Dependent living situation
o Impaired renal function
o Non-adherence to medication regimen
o Polypharmacy
STOPP START CRITERIA

• Doctors at Cork University Hosptial have devised a screening tool to aid prescribing in older people
• It consists of criteria for potentially inappropriate drugs called STOPP (Screening Tool of Older Persons’
Prescriptions) and criteria for potentially indicated drugs called START (Screening Tool to Alert to Right
Treatment)
• Use of the Screening Tool of Older Persons' Prescriptions (STOPP) criteria should enable a clinician to consider
which medications may be innappropriate in older, frail adults
• Use of the Screening Tool to Alert for Right Treatment (START) can aid a clinician in deciding appropriate
medications that should be considered
• STOPP/START has been shown to be a valid, reliable and a comprehensive screening tool that enables
clinicians to optimise a patient’s drug treatment in the context of his/her current diagnoses
• STOPP Criteria  drugs to consider stopping
o Cardiovascular System
▪ Digoxin > 125μg/day with impaired renal function
▪ Loop diuretic for dependent ankle oedema only
▪ Loop diuretic as first-line monotherapy for hypertension
▪ Thiazide diuretic with a history of gout
▪ Non-cardioselective beta-blocker with COPD
▪ Beta-blocker in combination with verapamil
▪ Use of diltiazem or verapamil with NYHA Class III or IV heart failure
▪ Calcium channel blockers with chronic constipation
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▪ Use of aspirin + warfarin without stomach protection
▪ Dipyridamole as monotherapy for cardiovascular prevention
▪ Aspirin + PMH of ulcer disease without stomach protection
▪ Aspirin at dose > 150mg day
▪ Aspirin with no history of coronary, cerebral or peripheral arterial symptoms or occlusive
arterial event
▪ Aspirin to treat dizziness not clearly attributable to cerebrovascular disease
▪ Warfarin for first, uncomplicated deep venous thrombosis for longer than 6 months duration
▪ Warfarin for first uncomplicated pulmonary embolus for longer than 12 months duration
▪ Aspirin, clopidogrel, dipyridamole or warfarin with concurrent bleeding disorder
o Central Nervous System
▪ Tricyclic antidepressants (TCA’s) with dementia
▪ TCA’s with glaucoma
▪ TCA’s with cardiac conductive abnormalities
▪ TCA’s with constipation
▪ TCA’s with an opiate or calcium channel blocker
▪ TCA’s with prostatism or prior history of urinary retention
▪ Long-term long-acting benzodiazepines e.g. chlordiazepoxide, fluazepam, nitrazepam,
chlorazepate and benzodiazepines with long-acting metabolites e.g. diazepam
▪ Long-term neuroleptics as long-term hypnotics
▪ Long-term neuroleptics in those with parkinsonism
▪ Phenothiazines in patients with epilepsy
▪ Anticholinergics to treat extra-pyramidal side-effects of neuroleptic medications
▪ Selective serotonin re-uptake inhibitors (SSRI’s) with a history of clinically significant
hyponatraemia
▪ Prolonged use (> 1 week) of first generation antihistamines i.e. diphenydramine,
chlorpheniramine, cyclizine, promethazine
o Gastrointestinal System
▪ Diphenoxylate, loperamide or codeine phosphate for treatment of diarrhoea of unknown
cause
▪ Diphenoxylate, loperamide or codeine phosphate for treatment of severe infective
gastroenteritis i.e. bloody
▪ diarrhoea, high fever or severe systemic toxicity
▪ Prochlorperazine (Stemetil) or metoclopramide with Parkinsonism
▪ PPI for peptic ulcer disease at full therapeutic dosage for > 8 weeks
▪ Anticholinergic antispasmodic drugs with chronic constipation
o Respiratory System
▪ Theophylline as a monotherapy for COPD
▪ Systemic corticosteroids instead of inhaled corticosteroids for maintenance in moderate-
severe COPD
▪ Nebulised ipratropium with glaucoma
o Musculoskeletal System
▪ NSAID with history of peptic ulcer disease or gastrointestinal bleeding, unless with stomach
protection
▪ NSAID with moderate-severe hypertension
▪ NSAID with heart failure
▪ Long-term use of NSAID (>3 months) for relief of mild joint pain in osteoarthtitis
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▪ Warfarin and NSAID together
▪ NSAID with chronic renal failure
▪ Long-term corticosteroids (>3 months) as monotherapy for rheumatoid arthrtitis or
osterarthritis
▪ Long-term NSAID or colchicine for chronic treatment of gout where there is no
contraindication to allopurinol
o Urogenital System
▪ Bladder antimuscarinic drugs with dementia
▪ Bladder antimuscarinic drugs with chronic glaucoma
▪ Bladder antimuscarinic drugs with chronic constipation
▪ Bladder antimuscarinic drugs with chronic prostatism
▪ Alpha-blockers in males with frequent incontinence
▪ Alpha-blockers with long-term urinary catheter in situ
o Endocrine System
▪ Glibenclamide or chlorpropamide with type 2 diabetes mellitus
▪ Beta-blockers in those with diabetes mellitus and frequent hypoglycaemic episodes i.e. ≥ 1
episode per month
▪ Oestrogens with a history of breast cancer or venous thromboembolism
▪ Oestrogens without progestogen in patients with intact uterus
o Falls Risk
▪ Benzodiazepines (sedative, may cause reduced sensorium, impair balance)
▪ Neuroleptic drugs (may cause gait dyspraxia, Parkinsonism).
▪ First generation antihistamines (sedative, may impair sensorium).
▪ Vasodilator drugs known to cause hypotension in those with persistent postural hypotension
i.e. recurrent >20mmHg drop in systolic blood pressure (risk of syncope, falls).
▪ Long-term opiates in those with recurrent falls (risk of drowsiness, postural hypotension,
vertigo).
o Analgesics
▪ Use of long-term powerful opiates e.g. morphine or fentanyl as first line therapy for mild-
moderate pain
▪ Regular opiates for more than 2 weeks in those with chronic constipation without concurrent
use of laxatives
▪ Long-term opiates in those with dementia unless indicated for palliative care or management
of moderate/severe chronic pain syndrome
o Duplicate Drug Classes
▪ Any regular duplicate drug class prescription
▪ e.g. two concurrent opiates, NSAID’s, SSRI’s, loop diuretics, ACE inhibitors (optimisation of
monotherapy within a single drug class should be observed prior to considering a new class of
drug).
▪ This excludes duplicate prescribing of drugs that may be required on a prn basis e.g. inhaled
beta2 agonists (long and short acting) for asthma or COPD, and opiates for management of
breakthrough pain.
• START Criteria  possible indications for commencing medications
o Cardiovascular System
▪ Warfarin in the presence of chronic atrial fibrillation
▪ Aspirin in the presence of chronic atrial fibrillation, where warfarin is contraindicated.
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▪ Aspirin or clopidogrel with a documented history of atherosclerotic coronary, cerebral or
peripheral vascular disease in patients with sinus rhythm.
▪ Antihypertensive therapy where systolic blood pressure consistently >160 mmHg.
▪ Statin therapy with a documented history of coronary, cerebral or peripheral vascular
disease, where the patient’s functional status remains independent for activities of daily living
and life expectancy is > 5 years.
▪ Angiotensin Converting Enzyme (ACE) inhibitor with chronic heart failure.
▪ ACE inhibitor following acute myocardial infarction.
▪ Beta-blocker with chronic stable angina.
o Central Nervous System
▪ L-DOPA in idiopathic Parkinson’s disease with definite functional impairment and resultant
disability.
▪ Antidepressant drug in the presence of moderate-severe depressive symptoms lasting at least
three months.
o Gastrointestinal System
▪ Proton Pump Inhibitor with severe gastro-oesophageal acid reflux disease or peptic stricture
requiring dilatation.
▪ Fibre supplement for chronic, symptomatic diverticular disease with constipation.
o Respiratory System
▪ Regular inhaled beta 2 agonist or anticholinergic agent for mild to moderate asthma or COPD.
▪ Regular inhaled corticosteroid for moderate-severe asthma or COPD, where predicted FEV1
<50%.
▪ Home continuous oxygen with documented chronic type 1 respiratory failure (pO2 < 8.0kPa,
pCO2 <6.5kPa) or type 2 respiratory failure (pO2 < 8.0kPa, pCO2 > 6.5kPa).
o Musculoskeletal System
▪ Disease-modifying anti-rheumatic drug (DMARD) with active moderate-severe rheumatoid
disease lasting >12 weeks.
▪ Bisphosphonates in patients taking maintenance oral corticosteroid therapy.
▪ Calcium and Vitamin D supplement in patients with known osteoporosis (radiological
evidence or previous fragility fracture or acquired dorsal kyphosis).
o Endocrine System
▪ Metformin with type 2 diabetes +/- metabolic syndrome
▪ ACE inhibitor or Angiotensin Receptor Blocker in diabetes with nephropathy i.e. overt
urinalysis proteinuria or micoralbuminuria (>30mg/24 hours) +/- serum biochemical renal
impairment
▪ Antiplatelet therapy in diabetes mellitus if one or more co-existing major cardiovascular risk
factor present (hypertension, hypercholesterolaemia, smoking history).
▪ Statin therapy in diabetes mellitus if one or more co-existing major cardiovascular risk factor
present
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Rehabilitation CP2 Learning Objectives Health Care of Later Life
REHABILITATION
Describe the meaning and discuss the evidence base for comprehensive geriatric assessment (CGA)
COMPREHENSIVE GERIATRIC ASSESSMENT (CGA)
o Defintion  “a multi-dimensional, interdisciplinary, diagnostic process to determine the medical, psychological
and functional capabilities of a frail older person in order to develop a coordinated and integrated plan for
treatment and long term follow up”
o Assessment  process for frail/vulnerable/older people at hospital or home
o Diagnoses  medical & psychiatric and their treatment
o Functions  intrinsic body systems  eg. strength, balance & vision
o Activities  task people can or cannot do, self-care or higher level
o Participation  important roles to be protected or restored
o Social environment  eg. social network, care givers or poverty
o Physical environment  house, steps, etc…
Domains Items to be assessed

Medical Co-morbid conditions and disease severity
Medication Review
Nutritional status
Problem list
Mental Health Cognition
Mood and anxiety
Fears
Functional capacity Basic activities of daily living
Gait and balance
Activity/exercise status
Instrumental activities of daily living
Social circumstances Informal support available from family or friends
Social network such a visitors or daytime activities
Eligibility for being offered care resources
Environment Home comfort, facilities and safety
Use or potential use of telehealth technology etc
Transport facilities
Accessibility to local resources
• The gold standard for the management of frailty in older people is the process of care known as
Comprehensive Geriatric Assessment (CGA)  it involves an holistic, multidimensional, interdisciplinary
assessment of an individual by a number of specialists of many disciplines in older people’s health and has
been demonstrated to be associated with improved outcomes in a variety of settings
• Benefits of CGA
o Live longer o Reduces readmissions
o Live independently for longer o Reduces care home admissions
o Reduces morbidity o May reduce admissions to hospital
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ACTIVITIES OF DAILY LIVINGS
• CGA is used when faced with non-specific presentation or geriatric condition

o Instability
o Immobility
o Incontinence
o Intellectual impairment  delirium or dementia
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Define and utilise the International Classification of Functioning and Health as a framework for comprehensive
assessment
• International Classification of Functioning, Disability and Health (ICF)
o a classification of health and health-related domains
o classified from body, individual and societal perspectives by means of two lists:
▪ a list of body functions and structure
▪ a list of domains of activity and participation
• The ICF is WHO's framework for measuring health and disability at both individual and population levels
• The ICF acknowledges that every human being can experience a decrement in health and thereby experience
some degree of disability.
• Disability is not something that only happens to a minority of humanity  thus ‘mainstreams’ the experience
of disability and recognises it as a universal human experience
• ICF takes into account the social aspects of disability and does not see disability only as a 'medical' or
'biological' dysfunction.
• By including Contextual Factors, in which environmental factors are listed ICF allows to records the impact of
the environment on the person's functioning
Describe the role of other health and social disciplines in the CGA and the rehabilitation process, including team working
• Assessment is often multi-disciplinary, but any practitioner in elderly care should be able to enquire about all
domains
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• The team composition will depend upon the setting, team members tend to comprise
o A doctor  to ensure that medical treatments are given safely
o A nurse  covering all aspects of care
o OT  for activities, aids & appliances
o Physio  for functions
o Social worker  for social interventions
• The team should be designed to meet the needs of the patient group
• A care plan is made based upon that assessment  states who does what, when & why
• To produce a care plan requires a case manager or other systems  it requires communication between
team members, typically a MDT meeting  this is more difficult in interface or community settings than in
ward settings  IT issues often affect this
• There has to be review  this again requires evidence of team communication
o That interventions are being given
o That they are having the desired effect
o To establish the need for more or other interventions
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Stroke Rehabilitation CP2 Learning Objectives Health Care of Later Life
STROKE REHABILITATION
eLearning: Stroke – Rehabilitation & Stroke
Discuss the organisation and evidence base for stroke rehabilitation

• All suspected stroke should be admitted directly to specialist acute stroke unit  this allows
o Early recognition and treatment of complications
o MDT working
o Co-ordinated and organised in-patient care with weekly MDT meetings
o Programmes of education and training for staff, patients, carers
o Involvement of carers in rehabilitation
o Staff interest and expertise
• In stroke units, patients are more like to receive measures to reduce aspiration, early nutrition, shorter length
of stay, less like to die and more likely to discharge independent
Explain the distinction between and the natural history, assessment and management of dysarthria, dysphagia and
dysphasia
OVERVIEW
• Aphasia  inability to comprehend or formulate language  reading & writing affected
• Dysphasia
o Expressive  understands language, but cannot find the write words  recognises incorrect
language  reading and writing may be affected
o Receptive  inability to understand language  does not recognise error in speech  reading &
writing affected
• Dysarthria  know what they want to say, but cannot get the words out correctly  understanding, ready &
writing not affected
Hemianopia Loss of one half of the visual fields
Expressive Inability to express language despite intact comprehension.

Aphasia
Receptive Aphasia Inability to understand commands and the world around them. May have fluent speech but
meaningless
Apraxia Difficulty in performing tasks despite intact motor function
Asterognosis Inability to identify objects in both hands by touch alone despite intact sensation
Agnosia Inability to recognise objects. Persons, sounds, shapes or smells when the specific sense is
intact or these is no memory loss
Inattention Inability to attend to stimuli bilaterally despite intact sensation

(neglect)
APHASIA
• Aphasia  a problem with language  it affects comprehension and expression of the spoken and written
work, including gestures & drawings
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• Generally aphasia occurs when someone has a left hemisphere stroke  traditionally Broca’s or Wernicke’s
area are sited as the location of the problem, but some language processing occurs in the right hemisphere
and people can exhibit symptoms of aphasia without Broca’s or Wernicke’s being implicated on a scan
• The impact of aphasia is much wider than an inability to talk because it changes how someone can interact
with other  difficulties with communication affect how a person maintain and sustains their relationships,
how they control their live through making choices and how they see themselves
• Society makes judgements about how competent people are by the way that they communicate  aphasia is
said to mask a person’s competence because the language problems prevent them from revealing their
abilities  consequently, people with aphasia need to be supported to understand what is going on and to
enable them to express their views
• The emphasis should be on us to provide help rather than relying on the person with aphasia to produce
alternative ways of communicating  without this support someone with aphasia may not be able to
participate in discussion or consent to treatment, but with it they may be enabled to reveal more ability than
appears on the surface
EXPRESSIVE DYSPHASIA
• Dysphasia is an impairment of language due to brain damage and is divided into receptive & expressive
• In expressive dysphasia  understanding is preserved and the patient tries to convey meaningful responses
to the questions asked  reading & writing may be impaired, but understanding is intact
• Can understand questions, but the response is non-fluent  patient often recognises their speech is incorrect
RECEPTIVE DYSPHASIA
• Receptive dysphasia is due to a lesion in Wernicke’s area and results in the inability to understand language
correctly  there is often a combination of expressive and receptive dysphasia, as the two areas are closely
related anatomically
DYSARTHRIA
• Dysarthria is a motor disturbance of speech  individuals know what they want to say, but cannot get the
words out correctly, because of weakness to the tongue or facial muscles
• It can be complete, in which case it is difficult to distinguish from aphasia  however, in dysarthria,
comprehension, reading and writing should not be affected
• Dysarthria is a problem of weak muscles and reduced control affecting the ability to speak clearly
• The person may sound slurred, get easily out of breath and have a flat-sounding voice
• There are no comprehension problems, as this is a physical difficulty  but aphasia can exist with dysarthria
DYSPRAXIA
• Dyspraxia affects the person’s ability to respond voluntarily in conversation, but they may be able to do things
automatically
• For example  they may greet you normally and then be unable to answer any questions
• Typically, the person is unable to repeat things and seems to grope for words and sounds
• However, it can difficult to differentiate dyspraxia from aphasia
DYSPHAGIA
• Swallowing problems, or dysphagia, occur in 30-50% of stroke patients after a stroke
• It is important to diagnose and manage the problem to prevent aspiration and malnutrition
• Managing dysphagia requires
o Doctors & nurses  often the first member of the team to be aware that a problem may exist 
nurses may be trained to carry out initial screening assessments to diagnose the presence or absence
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of dysphagia  if they feel the situation is complex they may refer on without screening the patient
first
o Once dysphagia is highlight the Speech & Language Therapist (SALT) assess the patient further to
check the risks for oral intake  if the patient’s situation is very straight-forward nurses may continue
to manage without referring to SALT
o The physiotherapist will assess appropriate positioning for swallowing  eg sitting balance, head
control  they will also monitor the patient’s chest if necessary
o The Occupational Therapist (OT) will assess seating for eating and drinking to ensure optimum
positioning  they will also look at hand-mouth coordination and adaptations to aid eating and
drinking
o The Dietician will assess and monitor intake to ensure nutritional requirements are met
o The Health Care Assistants and Nurses may feed/ supervise the patients when eating and drinking
o The Support Team Assistant needs to be aware of whether the patient is on a modified diet or
thickened fluids and give appropriate meals/drinks
o The Kitchen provides meals in a modified format to enable patients to have different textured foods
according to their needs
• The ability to eat & drink involves four stages  a problem at any stage can cause difficulties in eating &
drinking
o Pre-oral stage  getting food or fluid to the mouth  not classed as dysphagia
o Oral stage  manipulation of food/fluid to create a bolus and tongue action to move the bolus to the
pharynx
o Pharyngeal stage  swallow occurs involving airway protection
o Oesophageal stage  food/fluid passes through the cricopharyngeal sphincter into the oesophagus
• Dysphagia can cause aspiration  eg. poor oral control can lead to difficulties managing certain consistencies
safely, a delayed swallow can affect adequate airway protection
• Usually there are obvious signs that someone is not coping with food or drink  eg. coughing, chocking,
becoming very short of breath  however, some people can aspirate silently and there are no obvious clinical
signs to indicate this
• Silent aspiration can only be detected using videofluroscopy  this is similar to a barium meal
• Patients may be recommended a modified diet and/or thickened fluids to minimise the risk of aspiration  in
some cases the team may consider that the risks of aspiration are too great and it is in the patient’s best
interest to be nil by mouth  if this is the case, non-oral feeding may need to be considered – eg. NG tube or
PEG
• If a patient is not receiving their nutritional requirements this will affect their rehabilitation potential 
considering the risk of malnutrition is as important as the risk of aspiration  it may be crucial for patients to
receive their drugs, and if this cannot be given orally other methods will need to be considered
• Management:
o Consistency
o Quantity
o Strategies eg. Chin tuck, extra swallows
o Positioning, alertness
o Therapy
o Advise re prognosis – Liaison re non-oral feeding
PARIETAL LOBE SIGNS

• Higher cortical dysfunction comprises a variety of disorders other than language problems, depening on the
location of the lesion
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o Sensory neglect  the patient has intact sensation when tested unilaterally, but when confronted by
bilateral stimuli, ignores the affected side
o Agnosia  the inability to recognise familiar objects
o Astereognosis  the inability to recognise numbers drawn on the hand
o Dyspraxia  the inability to perform tasks, despite having the necessary strength & sensation  it is
a problem with processing information
Describe the common neuropsychological and emotional features of stroke, their assessment and management
EPIDEMIOLOGY
• 110,00 strokes in the UK each year and 50,000 TIAs
• Single biggest cause of severe adult disability  3rd biggest cause of death
• 20-30% of patients die within a month of stroke
RISK FACTORS
• Hypertension • Atrial fibrillation
• Hypercholesterolaemia • Drugs  illicit, Warfarin
• Diabetes • Increasing age, but young people can have
• Smoking strokes too
• Alcohol • Male
• Dietary • Personal History  stroke/TIA or migraine
• Low exercise • FH  strokes or clotting disorders
• Increased weight
OXFORD CLASSIFICATION OF STROKE
• Stroke  neurological deficit of cerebrovascular cause that persists beyond 24hrs or is interrupted by death
within 24hrs
• TIA (Transient Ischaemic Attack)  neurological deficit of cerebrovascular cause that persists less than 24hrs
• Total Anterior Circulation Stroke (TACS)  20% of stroke
o Higher dysfunction  dysphasia, reduced consciousnesss, visuospatial neglect, asterognosis
o Homonimous hemianopia
o Motor/sensory deficit
• Partial Anterior Circulation Stroke (PACS)  35% of stroke
o 2 out of 3 of TACS
o Higher dysfunction alone
• Lacunar Stroke (LACS)  20% of stroke
o Pure motor
o Pure sensory
o Sensorymotor
o Ataxic hemiparesis
o NONE OF THESE
▪ New dysphasia
▪ New visuospatial problem
▪ Proprioceptive sensory loss only
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▪ No vertebrobasilar features
• Posterior Circulation Stroke (POCS)  25% of stroke
o Cranial nerve palsy AND contralateral motor/sensory
deficit
o Bilateral motor or sensory deficit
o Conjugate eye movement problems
o Cerebellar dysfunction
o Isolated homonymous hemianopia
INTRACEREBRAL HAEMORRHAGE
• Risk factors
o On anti-coagulation
o Bleeding tendency
o Depressed consciousness
o Severe headache
o Hypertension +++
o Vomiting
o BM >11
• Primary causes  BP or amyloid angiopathy
• Secondary  underlying lesion, coagulopathy
• Management
o Reverse anticoagulants
o Stop antiplatelet
o Potential rapid deterioration
o Roles of neurosurgery/ITU
ASSESSMENT
• Pre-hospital assessement = FAST  Face. Arms. Speech. Time.
• Important to:
o Confirm history
o Exclude mimics
▪ Migraine ▪ Peripheral neuropathy
▪ Space-occupying lesions ▪ Cervical spine pathologies
▪ Seizure ▪ Transient global amnesia
▪ Syncope ▪ Psychiatric conditions
▪ Metabolic disturbance
o Time of onset  important for thrombolysis
• Areas that can be affected  usually negative symptoms – eg. loss of something
o Motor o Coordination
o Speech o Conscious level
o Vision o Memory
o Sensation
• National Institute of Health Stroke Scale (NIHSS)  a tool that can be used to rapidly assess stroke patients 
provides insight into the location of the stroke and insight into the severity  indentifies those who will
benefit from thrombolysis
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INVESTIGATIONS
• Aim of investigations
o Define arterial territory
o Define pathology
o Exclude stroke mimics
o Guide further investigations
o Aids treatment strategies
o Aids prognostication
• RCP Guidelines  all strokes to be scanned with 24hrs  soon to be 12hrs
• Indications for urgent scan
o ?Thrombolysis
o On anti-coagulation
o Bleeding tendency
o Unexplained progressive/fluctuating symptoms
o Depressed conscious level
o Suspicion of SAH
• CT Brain is easily accesbile, fast and has a sensitivity for bleeding, but it does have a high radiation burden 
critical to exclude haemorrhage
• Early signs of infarct on CT head
o Hyperdense MCA
o Loss of grey-white differentiation
o Sulcal effacement
o Loss of insular ribbon
• MRI Brain
o Less accesbile
o Longer procedure
o Contraindications
o More detailed, better images
o Define pathologies and arterial supplies
• Blood investigations
o FBC, U&E, LFT, TFT
o Glucose
o Lipids
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o Coagulation
o ESR
o Thrombophilia screen
o Vasculitic screen
• Look at ECG for AF, LVH or ischaemic changes
• Look at Echo for valvular disease (SBE), mural thrombus, LVH & PFO
MANAGEMENT
• Indications for thrombolysis using Alteplase (0.9mk/kg)

o Up to 4.5 hours
o Clear time of onset
o Clinical symptoms & signs of acute stroke
o Haemorrhage excluded
o Age  no upper age limit
• Contraindications for thrombolysis
o Rapidly improving or minor stroke symptoms
o Stroke or serious head injury 3 months
o Major surgery, obstetrical delivery, external heart massage last 14 days,
o Seizure at onset of stroke
o Severe haemorrhage last 21 days
o Bleeding tendency
o History of central nervous damage  neoplasm, haemorrhage, aneurysm, spinal or intracranial
surgery or haemorrhagic retinopathy
• Carotid endarterectomy within 2 weeks  looked at via carotid Doppler
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• Hemicraniectomy  used for malignant MCA syndrome  usually <60yrs  NNT to avoid death is 2 and to
avoid dependency is 4
• Anti-platelets
o Acute  Aspirin 300mg PO/PR for 2 weeks
o Stroke  Clopidogrel 75mg
o TIA  Clopidogrel 75mg
• Anti-coagulation  secondary prevention
o Heparin (UF/LMWH)  increases risks of bleeding
o Warfarin for AF
o CHAD2VASC score
o Anti-platelets for 2wks (risk of HTI), then switch with Clopidogrel
• DVT Prophylaxis
o Bed bound or less active
o Enoxparin  started on day 3 in ischaemic stroke
o TED stockings increases risk of skin complications
o Mechanical compression stockings have evidence for use in stroke
COMPLICATIONS
• DVT
• Pulmonary embolism
• Aspiration & Hypostatic pneumonia
• Pressure sores
• Depression
• Seizure
• Incontinence
• Post stroke pain
Describe specific stroke pain syndromes

• Causes of pain post-stroke
o Headache  both haemorrhage or o Oedema
infarcts o Constipation/retention
o Dissection o Associated conditions  IHD, gout,
o Back pain  bedbound OA, VTE
o Low-tone  shoulder subluxation o Central post-stroke pain
o High-tone  myalgia
CENTRAL POST-STROKE PAIN
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• CPSP  also known as thalamic syndrome or thalamic pain syndrome  is a neurological disorder that
develops when the CNS  the brain and spinal cord is damaged  it can occur when a stroke injures the
thalamus or parietal lobe  the parts of the brain that process sensory stimuli like heat, cold and touch
• Spontaneous pain and painful overreaction to objective stimulation resulting from lesions confined to the
substance of the CNS including dysaesthesia of a disagreeable kind
• Occurs in 8% of stroke patients  most common <2 months after, but up to 6 years post-ictus
• It is central neuropathic disorder  lesion of ventrolateral thalamus, but can occur anywhere along the
spinothalamocortical tract
• Causes a variety of sensory disturbances
o Reduced pain or temp sensation
o Poor pain localisation on affected side
o Hyperaesthesia or allodynia
o Intermittent or persisting pain  cold & poorly localised
• High frequent in lateral medullary syndrome (25%) and ventroposterothalamic nucleus (17%)
• Lesion of spinothalamic tract or medial lemniscus with disinhibition of thalamus
• Treated with
o Opiated morphine or tramadol
o Anti-depressants  Amitriptyline 10-25mg and titrate to 50mg
o Anti-convulsants  Gabapentin 300-600mg TDS (sedation) or Pregabalin 75mg OD
o Deep brain stimulation
Demonstrate the ability to move and transfer a person with stroke
Explain the principles of physiotherapy as applied to stroke

• Role of the physiotherapist
o To assess the patients posture and balance and advise the MDT on appropriate support and
positioning in bed and in the chair.
o Joint responsibility with occupational therapy staff for the provision of appropriate seating for the
patient on the ward.
o To advise MDT on appropriate method of transferring patients from bed to chair and chair to toilet
etc. and progress these as necessary.
o Specific assessment and treatment of movement problems following stroke to help improve balance,
mobility and function.
o To work with the MDT to determine the most appropriate discharge plan for the patient i.e. do they
need further stroke specialist inpatient rehabilitation, or could their needs be met at home with the
Early Supported Stroke Discharge Team?
o Stroke Team Assistant facilitates 24-hour approach to moving, handling and positioning of patients
through reinforcement of good positioning on the ward.
o Updating ward staff on theory and practical of facilitating good movement patterns in patients to
further facilitate a 24-hour approach to patient care.
o Advice to family and carers on appropriate exercises to facilitate patients recovery.
o To ensure that an appropriate referral is made for physiotherapy follow up following discharge
• Physiotherapeutic rehabilitation of stroke patients is based on a background understanding of normal
movement  this is dependent upon a neuromuscular system that can receive, integrate and respond
appropriately to information from the environment  it is the coordinated response of the CNS to achieve a
sensory/motor goal
• Requirements of normal movement
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o Muscle tone  postural tone is adaptable and varies throughout different parts of the body in
response to a desired motor goal  there is a range of normal  it needs to be sufficient to
withstand gravity but adaptable to allow free movement  e.g. picking up a cup without using the
whole body
o Reciprocal innervation  this is the modulation of excitation and inhibition within the CNS allowing
smooth working of one muscle group with another  this produces selective movement i.e. the
movement of one body part whilst keeping another part still
o Sensory integration and proprioceptive control  sensory feedback is necessary to give information
to the brain about the success or failure of a movement or task
• The Bobath concept  uses facilitation to address disturbances of movement and balance  facilitation is
the use of specific handling skills to give the patient the experience of more normal movement through active
alignment of particular body parts  this improve the patient’s proprioceptive awareness and thus quality of
movement  in practice the aim is to re-educate more normal movement patterns as opposed to increasing
use of compensatory movements that in the longer term limit movement potential
• Neuroplasticity  the potential of the nervous system to adapt and change  it allows us to learn & re-learn
new skills and explains our potential for recovery after stroke  factors that influence it include the
environment, positioning and movement of patients  it is important to consider how someone moves, as
well as if they can
• It is essential it provide a consistent, 24hr approach to the care of stroke patients in order to maximise
function
• Outcome measures used in physiotherapy
o Trunk control test  brief test, which monitors rolling to either side, sitting up from lying and sitting
balance  scores are given for the ability to perform the task in a normal style  max score is 100
o 9 hole peg test  A brief standardised quantitative test of upper limb dexterity and function  timed
trial of placement and removal of 9 pegs into and out of a shallow container
o Berg Balance (BBS)  this is a 14 item scale which measures balance  balance is measured based
on an ability to maintain positions of increasing difficulty due to a diminishing base of support and
ability to change position  max score 5
o Timed Up & Go (TUAG)  multiphase task that times a patient rising from a chair, walking 3m,
turning, walking back to the chair and sitting back down  the score given is the time taken in
seconds to complete the test  also recorded is the number of steps taken to complete the test in an
attempt to record quality of movement
Explain the principles of occupational therapy as applied to patients with stroke
687
• Occupational Therapists work alongside the multi-disciplinary team to ensure all patients admitted following a
CVA have appropriate assessment and treatment intervention for a safe and effective discharge
• The OTs will liaise closely with patients and carers to discuss and feedback the outcome of assessments, set
joint goals and provide advice re. support groups. They will also ensure patients are referred to the
appropriate Outpatient OT service or Community OT on discharge if further rehabilitation or input is required.
ROLE
• Daily Living Skill
o Personal care  this task is graded dependent on the patients’ level of function and is a good way of
assessing a patient’s present elvel of physical ability, any perpetual or cognitive deficits, language
problems & mood  OT works with team to identify beneficial ways of handling the paitent following
normal movement principles and improving their personal care skills  eg. feeding, grooming,
washing or dressing
o Domestic activities of daily living  this includes starting at a basic level assessing the patients ability
to make a hot drink through the meal planning and preparation which involves going to the
supermarket, where social skills and money handling ability can also be assessed
• Cognition & Perception
o Following a CVA many patients may experience some cognitive or perceptual problems
▪ Spatial difficulties
▪ Neglect/inattention
▪ Agnosias
o Some patients may exhibit dyspraxia
▪ Ideomotor  difficulty imitating gestures or performing purposeful motor tasks on
command, although the concept is fully understood
▪ Ideational  difficulty carrying out an activity automatically or on command due to difficulty
in understanding the concept or sequencing the activity
o Similarly there are also many different aspects of cognitive function that can be affected  eg. slow
processing skills, poor memory, poor concentration, difficulty planning or difficulty sequencing tasks
o All patients will initially undergo perceptual and cognitive screens and if necessary standardised
assessments to determine a more detailed analysis of any problems  following assessment, the OT
will work closely with the rest of the team to implement a treatment programme aiming to help the
patients and carers either overcome or compensate for any problems
• Seating/Wheelchair Assessment  this is completed to ensure patients are provided with a wheelchair and
cushion that will meet their postural and pressure relieving needs  OT’s can also refer for specialist
wheelchairs and cushions eg. tilting chairs or electric powered chairs for indoor or outdoor use.
• Home Environment  access visits and home visits are completed with the majority of patients to ensure
their environment best meets their needs and to plan an effective discharge  this may include referrals to
Social Service OT’s for adaptations and the provision of equipment ie. profiling beds or hoists if required
• Consideration for Splinting  upper limb or lower limb splints may be indicated  this may be to reduce the
risk of contractures, to achieve better positioning, or post botox injection
• Assessment of Writing Skills  this can often be affected particularly if the CVA has affected the dominant
side  patients with speech and language problems may also have difficulty in this area so this should also be
taken into consideration  treatment programmes can be put into place, which may include joint sessions
with SALT, work sheets or the provision of writing aids to address these problems
• Assessment and Advice re. Leisure/Driving  OT assessment and intervention includes addressing a patients’
leisure activities and offering support and advice to enable them to return to any hobbies or leisure pursuits
where possible  the OT will discuss driving with a patient if appropriate and provide information regarding
what to do about notifying the DVLA and their insurance company  they will also discuss the Derby Mobility
688
Centre and the assessments that they can complete if a patient wishes to return to driving providing they are
medically fit to do so
689
Falls CP2 Learning Objectives Health Care of Later Life
FALLS
eLearning: Falls
Describe the balance system

• Important systems involved in balance
o Vision
o Proprioception
o Vestibular system
o Brain
o Effector mechanisms
• Vision  is required for spatial orientation
• Proprioception  or joint position sense helps with orientation when the eyes are shut or vision is impaired
• Vestibular system  helps with orientation in 3D, by use of the three semi-circular canals at 90 degrees to
each other  this system responds rapidly to head movements
• Brain  helps to integrate and coordinate the sensory inputs and tells the body what to do in order to
counteract any challenge to the upright posture  it is also involved in judgement and risk taking
• Effector mechanisms  in particular the quadriceps muscles are the main mechanisms which the body uses
to rebalance
You will be able to explain the normal mental and physical functions that are affected by common conditions in old age
You will be expected to explain the scientific bases of common conditions in old age.
Demonstrate measurement of the postural cardiovascular reflexes

• When considering CVS causes of falls it is important to look for postural hypotension  this is because in
someone who is vulnerable, a reduction in brain perfusion on standing can give rise to a disequilibrium and so
a fall  checking for postural hypotension is of limited use, it is sensitive, not specific test
• Baroreflex  homeostatic mechanism that helps to maintain blood pressures at a nearly constant levels 
provides a rapid negative feedback loop, which in an elevated BP reflexively causes the HR to decrease
therefore BP decrease  baroreceptors found in aortic arch and carotid sinus
• All patients presenting following a fall should have an ECG and postural BP checked as standard  some
patients may need more detailed assessment using a TILT table
• Carotid sinus massage is commenced for 5 seconds using a longitudinal massage over the point of maximal
carotid pulsation  this is followed by slowing of the pulse and a dramatic fall in BP
List the types and causes of disorders of the balance system and cardiovascular reflexes
• Fall Definitions
o An event which results in a person coming to rest inadvertently on the ground or floor or other lower
level
o Unintentionally coming to rest on the ground, floor or other lower level; excluding coming to rest
against furniture, wall or other structure
o A sudden, unintentional change in position causing an individual to land at a lower level, on an object,
the floor, or the ground, other than as a consequence of a sudden onset of paralysis, epileptic seizure,
or overwhelming external force
EPIDEMIOLOGY
• Every 5hrs in the UK an older person dies as a direct result of a fall
• Men in low & middle income countries of Europe have the highest fall related mortality worldwide
• Twice as many women aged 75+ die from falls as men of the same age
690
• Following a hip fracture, 1 in 3 become totally dependent and 1 in 2 become partly dependnet
• 50% of people aged 80+ fall at least once a year
• Up to the age of 64  twice as many men as women die in falls
• The 1 year mortality in people with fractured neck of femur is 20-35%
• 1% of falls result in hip fracture
• 50% of those who fall will fall again in the next 12 months
• After a fall an older person has a 50% probability of having serious mobility problems and 10% probability of
dying within a year
• Up to age 64, twice as many men as women die in falls and over 74 twice as many women die as men
• The economic cost was nearly £1.8 billion or approx. 1% of government spending on health & social care
services  the cost divides into
o 45% on acute care
o 5% on drugs
o 50% on social care
DISORDERS AFFECTING BALANCE

• Vision • Brain
o Cataracts o Cerebrovascular disease
o Age-related macular degeneration o Dementia  affects judgement
o Diabetic retinopathy o Low blood pressure  reduces
o Bifocal lenses cerebral blood flow
• Proprioception • Effector mechanisms
o Sensory neuropathy o Proximal myopathy  eg. steroid
o Joint replacements exposure, vitamin D deficiency
o Ageing o Any neurological disease
• Vestibular system o Disuse atrophy
o Previous middle ear infections
o Meniere’s disease
o Ototoxic drugs
MEDICATION AND FALLS
• Drugs are an important cause of falls which may be relatively easily modified  as a rule, older people taking
four or more drugs are at increased risk of falls
• Older people are often prescribed anti-hypertensives  over time the body’s response to anti-hypertensives
changes and/or other factors intervene  which means the treatment may no longer be needed and may
actually be causing frank hypotension  if hx suggests falls are due to low BP – stop anti-hypertensives
• Few drugs can actually be used to prevent falls  Fludrocortison is sometimes used in people with
unexplained, persistently low BP to increase the circulating volume and thus raise BP
• Calcium & vitamin D are used to improve muscle strength on people who are vitamin D deplete  there is
evidence to suggest that vitamin D improves the function of stretch receptors and so reduce falls
Effect of Drug Class of Drug Example Explanations

691
Benzodiazepine Nitrazepam, diazepam,
lorazepam, temazepam
(shorter acting),
zopiclone
Sedation is one of the most

Tricyclic anti- Amitriptyline, trazodone
common causes of drug- induced
depressants
falls. Elderly patients are more
Anti-psychotics Promazine,
susceptible to the Central
Drugs of sedation chlorpromazine,
Nervous System side effects of
haloperidol, risperidone,
drugs, leading to excessive
quetiapine
sedation, increased body sway
Barbiturates Phenobarbitone
and slowing of the reaction time.
Anti-convulsants Carbamazepine, sodium
valproate
Sedating anti- Chlorphenamine,
histamines hydroxyzine
Analgesic opiates Codeine, nefopam
morphine
Diuretics Furosemide,
bendroflumethiazide
Beta-blockers Atenolol, propranolol
ACE inhibitors Captopril, Lisinopril,
enalapril, Ramipril
Angiontensin II Valsartan irbesartan
blockers
Alpha blockers Doxazosin, prazosin, This is the other most common
alfuzosin, tamsulosin cause of drug induced falls.
Calcium channel Nifedipine, amlodipine, Orthostatic blood pressure
Drugs causing blockers diltiazem, verapamil control is already impaired in the
hypotension Vasodilators Hydralazine, nitrates elderly, and they are more likely
Urinary anti- Oxybutunin, tolterodine to suffer drug induced postural
muscarinics hypotension, which can lead to
Phenothiazine Promazine, light headedness and falls
chlorpromazine,
prochlorperazine
TCAs Amitriptyline, trazodone
Anti-parkinsonian Levodopa
drugs
Acetylocholinesterase Donepezil, rivastigmine
inhibitors
Eyedrops Pilocarpine
Drugs causing
reduced visual
acuity/blurred
vision
Anti-cholinergics Procyclidine,
trehexyphenidyl
Drugs causing Baclofen, dantrolene
muscle weakness
Drugs causing Carbamazepine, phenytoin
ataxia
Identify the risk factors for falls
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• The main risk factor for falling is a history of fall  particularly in the last 12 months
• Diseases that affect the cardiovascular, neurological or musculoskeletal systems can increase an older
person’s risk of falling
• Intrinsic risk factors • Extrinsic risk factors
o Diabetes o Highly polished wooden floors
o Parkinson’s Disease o Poorly fitting slippers
o Thyrotoxicosis o Walking stick
o Cataracts o Poor lighting conditions
o Osteoarthritis o Diazepam 10mg nocte
o Metastatic prostate cancer o Rugs
• Other risk factors
o Female gender  ratio 1.5 o Cognitive impairment  ratio 2.0-4.0
o Visual deficit  ratio 1.5-3.0 o Muscle weakness  ratio 3.0
o Medication  mainly o Osteoarthritis  relative risk 2.0
benzodiazepams, anti-depressants o Home hazards  relative risk 3.6
and anti-psychotics – ratio 1.5 o Testosterone deficiency  relative
o Assistive device  relative risk 2.6 risk 1.8
NICE RISK INCREASING CONDITIONS

• Dementia
• Delirium
• Lower urinary tract symptoms in men
• Stroke
• Urinary incontinence in neurological disease
• Urinary incontinence in women
Describe the consequences of falls

• Fear of fall  an ongoing concern about falling that ultimately limits the performance of daily activities  it is
more prevalent in older people who fall  it is associated with activity limitation, participation restriction, low
quality of life, anxiety and depression
• Social isolation  avoidance of activities, often associated with fear of falling, can lead to fallers becoming
socially isolated
• Injuries & fractures  almost three quarters of falls in over 65s result in injuries to the arm, shoulder or leg 
20% of falls in women over 55 result in one or more fracture requiring hospital treatment
• In England & Wales in 1996, 82% of all fatal falls occurred among people aged 65 and over
o 2993 people aged 65 and over died as a result of accidental fall
o 1820 of these were women aged 75 and over
o 991 fatal falls took place in the home
o 378 took place in communal establishments
• Carer strain  caring for a person who falls and worrying about their risk of falling has been shown to be a
cause of significant carer stress
• Institutionalisation  the likelihood of an older people requiring admission to a care home increases with
both the number and severity of falls recorded
• Depression & anxiety  falls are positively correlated with both depression & anxiety  It has been
suggested that fear of falling, social isolation and difficulties with activities of daily living contribute to this
OVERVIEW OF CONSEQUENCES
• Trauma
693
o Soft tissue injury
o Fragility fractures  mortality & morbidity
o Joint dislocations
o Subdural haemorrhage
• ‘Long lie’
o Hypothermia
o Pressure related injury  sores
o Dehydration & AKI
o Infection  pneumonia
• Psychological  loss of confidence & fear of falling
• Social  reduced mobility & increased dependence
• Costly to NHS, complaints, Coroner’s inquest
Demonstrate the assessment of a patient who falls

• When assessing a patient who has fallen remember
o A fall is not a diagnosis  it is a presenting compliant
o It is essential to diagnose the cause of the fall
o All falls are mechanical  eg. some form of mechanism is involved
o Most health professionals who talk about “mechanical falls” are actually referring to an
environmental cause for the fall
INTEGRATED APPROACH
• An integrated approach is essential in the assessment and management of falls
• Falls or high risk of falls  in all patients, consider calcium & vitamin D and bone health assessment
• Primary care  ask all older people if they have fallen in the last year – if they have, they will need a more
detailed assessment to identify reason and interventions to address modifiable risk factors  consider
referring to falls prevention programme
• Emergency Department  most people attending secondary care present to A&E or AMU and a standard ABC
approach should be used  once the patient has ben stabilised, it is necessary to look for evidence of a fall-
related injury
• Institutional care  nearly everyone in a care home or similar facility will be at high risk of falling, so it is
important that a global approach is adopted  this should reflect the approach used in other settings –
routine assessment of medical factors, regular exercise and attention to hazards
• Inpatient setting  whiles people might have been admitted for other reasons, but have fallen in hospital – it
is important to refer them to a falls prevention service which can start once they are back at home  for
those who have sustained a fracture, a fracture liason service should be available as well as bone health
assessment  some individuals are at especially high risk of an inpatient fall and should be carefully
supervised
NICE MULTIFACTORIAL ASSESSMENT

• Older people who present for medical attention because of a fall, or report recurrent falls in the past year, or
demonstrate abnormalities of gait and/or balance should be offered a multifactorial falls risk assessment
• This assessment should be performed by a healthcare professional with appropriate skills and experience,
normally in the setting of a specialist falls service. This assessment should be part of an individualised,
multifactorial intervention
• Multifactorial Assessment may include
o Identification of falls history
o Assessment of gait, balance and mobility, and muscle weakness
694
o Assessment of osteoporosis risk
o Assessment of the older person's perceived functional ability and fear relating to falling
o Assessment of visual impairment
o Assessment of cognitive impairment and neurological examination
o Assessment of urinary incontinence
o Assessment of home hazards
o Cardiovascular examination and medication review
FRAILTY
• Key characteristics of fraility
o There is a reduction in physiological reserve and systems
o There are reduced homeostatic mechanisms
o As a consequence there is an increased vulnerability to even minor external stressor events
o This results in adverse health outcomes
o It is associated with ageing but to a variable degree between individuals
• The British Geriatrics Society (BGS) has launched the first of a two-part guidance on the recognition and
management of older patients with frailty in community and outpatient settings  called Fit for Frailty
• It has been produced in association with the Royal College of General Practitioners (RCGP) and Age UK, and
aims to be an invaluable tool for social workers, ambulance crews, carers, GPs, nurses and others working
with older people in the community.
• The guidance will help them to recognise the condition of frailty and to increase understanding of the
strategies available for managing it
• Assessment of Frailty
o PRISMA 7 Questionnaire  which is a seven item questionnaire to identify disability that has been
used in earlier frailty studies and is also suitable for postal completion. A score of > 3 is considered to
identify frailty
o Walking speed (gait speed)  Gait speed is usually measured in m/s and has been recorded over
distances ranging from 2.4m to 6m in research studies. In this study, gait speed was recorded over a
4m distance
o Timed up and go test  The TUGT measures, in seconds, the time taken to stand up from a standard
chair, walk a distance of 3 metres, turn, walk back to the chair and sit down
o Self-Reported Health  which was assessed, in the study examined, with the question 'How would
you rate your health on a scale of 0-10'. A cut-off of < 6 was used to identify frailty
o GP assessment  whereby a GP assessed participants as frail or not frail on the basis of a clinical
assessment
o Multiple medications (polypharmacy)  where frailty is deemed present if the person takes five or
more medications
o The Groningen Frailty Indicator questionnaire  which is a 15 item frailty questionnaire that is
suitable for postal completion. A score of > 4 indicates the possible presence of moderate-severe
frailty
CAROTID SINUS MASSAGE
• CSS is an exaggerated response to carotid sinus baroreceptor stimulation  results in dizziness or syncope
with transient diminished cerebral perfusion  althought baroreceptor function usually diminishes with age,
some people experience hypersensitive carotid baroreflexes
• Indication  unexplained falls or presyncope
• Contraindications
o MI/TIA/stroke <3 months
o Previous adverse reaction to CSM
695
• Relative contraindications
o VF/VT
o Carotid bruits
696
Describe the interventions to prevent falls

• General approach to minimising risk of falls
o Strength and balance training
o Environmental assessment
o Medical review
• Strength & balance training involves a physiotherapist making an assessment of an individual and then
prescribing a tailored course of therapy aimed at improving strength & balance  therapy might involve a
variety of activities, such as CVS training, strength training and balance training  this usually lasts many
weeks – at least 50hrs is required
• The environmental assessment should always be led by an occupational therapist  OT will assess the
individual and the environment to identify any potential hazards but visiting the individual at their home and
suggest improvements to be made if necessary and may provide some assistive equipment
o Bath  aids can be obtained for making it easier to have a bath  these can range from bath boards
and seats to electronic bath lifts
o Toilet  a raised toilet seat could be necessary for a person with limited nobility  an alternative
could be a commode
o Dressing  various devices are available to help a person with activities of daily living, such as
dressing  many simple task that we take for granted cant be extremely challenging for older people
who have chronic illness  eg. RA or following a stroke
697
o Grab rails  can be placed in several locations to help with steps, stairs or even getting in & out of
the bath or shower
• Medical assessment  aimed at addressing 4 important aspects
o Diagnose medical reasons for falls  eg. CVS, neurological, psychiatric, infective or opthlamic
o Optimise the management of conditions contributing to falls  co-morbidities
o Bone health assessment  evidence of previous fracture, prescribe bone protection and DEXA
o Medication review  poly pharmacy increases the risk of fall
NICE ADVISED INTERVENTIONS

• All older people with recurrent falls or assessed as being at increased risk of falling should be considered for
an individualised multifactorial intervention
• In successful multifactorial intervention programmes the following specific components are common (against
a background of the general diagnosis and management of causes and recognised risk factors):
o Strength and balance training
o Home hazard assessment and intervention
o Vision assessment and referral
o Medication review with modification/withdrawal.
• Following treatment for an injurious fall, older people should be offered a multidisciplinary assessment to
identify and address future risk and individualised intervention aimed at promoting independence and
improving physical and psychological function
• Strength & balance training those most likely to benefit are older people living in the community with a
history of recurrent falls and/or balance and gait defici  a muscle-strengthening and balance programme
should be offered  his should be individually prescribed and monitored by an appropriately trained
professional.
• Exercise in extended care settings  with an exercise component for older people in extended care settings
who are at risk of falling
• Home hazard & safety intervention  older people who have received treatment in hospital following a fall
should be offered a home hazard assessment and safety intervention/modifications by a suitably trained
healthcare professional  normally this should be part of discharge planning and be carried out within a
timescale agreed by the patient or carer, and appropriate members of the health care team  shown to be
effective only in conjunction with follow-up and intervention, not in isolation
• Psychtropic medication  older people on psychotropic medications should have their medication reviewed,
with specialist input if appropriate, and discontinued if possible to reduce their risk of falling
• Cardiac pacing  should be considered for older people with cardioinhibitory carotid sinus hypersensitivity
who have experienced unexplained falls
698
699
Incontinence CP2 Learning Objectives Health Care of Later Life
INCONTINENCE
eLearning: Conitence - Epidemiology, Physiology & Anatomy - Incontinence
eLearning: Continence – Patient Assessment & Management - Incontinence
Describe the physiology of the maintenance of continence

DEFINITIONS
• Incontinence  the objective involuntary loss of urine or faeces
• Urinary incontinence
o ‘The complaint of any involuntary leakage of urine’
o ‘The involuntary loss of urine leading to social and hygienic problems’
• Faecal incontinence  the inability to control the passage of gas or stools through the anus
• Nocturia  the need to wake during the night to pass urine >2 times/night
• Nocturnal enuresis  urinary incontinence whilst sleeping
• Hesitancy  difficulty in starting or maintaining a flow of urine
• Urgency  sensation of imminently needs to pass urine
• Frequency  the need to pass urine more often than normal
ANATOMY
• Continence is maintained by the co-ordinated interaction of the bladder, urethra, pelvic floor muscles and the
nervous system
• The bladder is low pressure-high volume system  the pressure increases slowly as the bladder fills (rate 0.5-
5ml/hr)
• Bladder capacity is approx. 600ml  with a desire to void being felt at approx. 250ml
• Continence is maintained as long as the urethral pressure exceeds the bladder pressure
• The process of micturition requires
o The voluntary relaxation of the striated muscle around the urethra  this reduces urethral pressure
o This is followed by a corresponding increase in bladder pressure a a consequence of detrusor
contraction
PHYSIOLOGY
• The micturition cycle involves both the somatic (voluntary) and autonomic (sympathetic and
parasympathetic) nervous systems
• The frontal cortex provides voluntary control
• The pontine micturition centre (midbrain) co-ordinates detrusor contraction with urethral relaxation
• Bladder contraction is mediated by the parasympathetic system  these parasympathetic fibres, along with
those responsible for somatic control (pudendal nerve), originate from the sacral plexus (S2 to S4).
• Excitation of the parasympathetic nerves stimulates the release of acetylcholine, which acts on muscarinic
receptors (there are 5 subsets of muscarinic receptors with subset M3 being primarily responsible for bladder
contraction) to cause detrusor contraction
• Bladder filling is mediated by the sympathetic system  sympathetic nerves arise from T11 to L2 and
innervate the smooth muscle of the bladder neck and proximal urethra causing contraction, allowing the
bladder to fill
• Excitation of the pudendal nerve causes contraction of the external urethral sphincter, allowing voluntary
control  voiding therefore depends on parasympathetic activity, with opening of the bladder neck, which is
involuntary, followed by voluntary relaxation of the external urethral sphincter
700
List the types of incontinence and causes of them
TYPES OF INCONTINENCE
• Common forms • Less common forms
o Urge incontinence o Faecal
o Stress incontinence o Overflow
o Mixed incontinence o Reflex
o Functional incontinence o Noctural eneuresis
• Stress incontinence  the involuntary leakage of urine during increased abdominal pressure in the absence of
detrusor muscle contraction
o Urethral hypermobility  dependent on pelvic floor muscle, uretheral support
o Sphincter deficiency  dependent on pudendal innervation, urethral striated and smooth muscle
function
• Urge incontinence  also known as overactive bladder or detrusor overactivity  syndrome consisting of
urgency with or without incontinence, usually companied frequency and nocturia
o Reduced bladder capacity
o Patchy innervation
o Balance of excitatory neurotransmitter alter
o Increase in spontaneous bladder activity
o Detrusor overactivity  urodynamic observation  involuntary detrusor contractions during the
filling phase
• Overflow incontinence  urinary incontinence associated with chronic retention of urine  2 main causes
o Detrusor failure  neurological, medication induced, diabetes, spinal surgery
o Obstruction  enlarged prostate, bladder stones, tumour, urethral stricture
• Functional incontinence  when someone is not normally incontinent, but is incontinent due to external
factors  often develops in hospital
o Inability to communicate need to go to the toilet
o Immobility
o Sedation
o Unfamiliar surroundings
o Cognitive impairment
o Clothing
EFFECT OF AGEING
• Reduced balder capacity
• Reduced blood flow
• Reduced totally collagen
• Slowing of nerve conduction time
• Degenerative changes to urethral support structures
SYMPTOMS
• Detrusor overactivity  the bladder contracts spontaneously during filling as the patient attempts to prevent
micturition  this diagnosis can only be confirmed using urodynamics
• Urge incontinence  involuntary leakage of urine accompanied or preceded by urgency  this is usually
associated with detrusor instability
• Urinary incontinence  the involuntary loss of urine
• Hesitancy  involuntary delay or inability in starting the urinary stream
• Nocturia  the need to pass urine during the night which awakens one from sleep  as well as causing
problems with sleep disturbance, nocturia is also an independent risk factor for falls
701
• Overactive bladder  syndrome including urinary urgency +/- urge incontinence  usually accompanied by
urinary frequency (voiding >x8/24hr) and nocturia  can be associated with detrusor overactivity
• Noctural polyuria  passing >1/3 of your urine volume during the night  this diagnosis can be made quite
easily by viewing frequency volume charts
• Stress incontinence  involuntary leakage of urine caused by failure of the bladder outlet to remain closed
when intra-abdominal pressure rises  can happen during physical exertion, laughing, coughing or in severe
cases transferring from bed to chair
• Urgency  sudden, compelling desire to pass urine  this symptom can occur in the absence of urinary
incontinence
PATHOPHYSIOLOGY
• Incontinence can result from
o Weakness of the urinary outlet  stress incontinence
o Failure of the bladder to store urine because of higher bladder pressure  urge incontinence
o A combination of the first 2  mixed incontinence
o A bladder that is overfull and overflows  bladder outlet obstruction
o Abnormal communications of the urinary tract  fistulae
o Incontinence due to general impairment (cognitive, function or affective)  functional
AETIOLOGY OF FUNCTIONAL INCONTINENCE

• DIAPPERS
o Delirium
o Infection
o Atrophy  vaginal
o Pharmacology
o Psychological
o Excess urine output  polyuria
o Restricted mobility
o Stool impaction  constipation
RISK FACTORS
• Women are more likely to develop stress incontinence for several reasons
o The bladder outlet is weaker due to a shorter urethra and lack of prostate
o Childbirth increases a women’s risk of developing urinary incontinence  this risk increases
progressively with C-section, vaginal delivery and forceps delivery  damage can be a combination of
ligament and nerve damage
702
o Obesity may contribute to urinary incontinence by causing increased strain and weakening of the
pelvic floor
• Surgery  the risk of stress incontinence following transurethral resection of the prostate is approx. 1%
• Other risk factors include
o Age
o Neurological disease
o Urinary infection
o Post menopausal
o Post hysterectomy
o Bladder outlet obstruction
CAUSES OF OVERACTIVE BLADDER – URGE INCONTINENCE

• Idiopathic  most common
• Neurogenic  associated with neurological conditions  eg. MS, Parkinsonism, Stroke or SCI
• Infective  UTI
• Bladder outlet obstruction
CAUSES OF BLADDER OUTLET OBSTRUCTION

• Phimosis
• Stricture  male preponderance
• STDs  particular women
• Trauma
• Blood clot
• Calculi
• BPH
• Cancer of prostate or bladder
• Carcinoma of cervix or colon
MEDICATION CAUSES
• Cholinesterase inhibitors  increase bladder contraction
• ACE inhibitors  Chronic cough may worsen SUI
• Opioids  constipation leading to overflow incontinence
• Alpha-adrenoreceptor blockers  relax bladder outlet may worsen SUI
• Anti-psychotics – eg. Haloperidol  anticholinergic may cause retention
• Calcium channel blockers  decrease smooth muscle contractility
• Diuretics – alpha agonist  urinary retention may lead to overflow
• Hypnotics – eg. Lorazepam  reduced awareness of need to urinate
RED FLAGS
• Patients with the following problems should be referred to urology or urogynaecology
o Pain on micturition
o Haematuria
o Prolapse beyond the introitus
o Suspicious of prostate cancer
Describe and demonstrate the assessment of a patient with incontinence

• Any consultation between an older person and a health care professional should include a screening question
about continence issues  if the answer is positive, a full assessment should be offered
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• Validated screening questionnaires are available for selected patients  in 1998, the first International
Consultation on Incontinence (IC) was sponsored by WHO  a more recent questionnaire is the Bladder
Control Self Assessment Questionnaire (B-SAQ)
HISTORY
• Stress incontinence  leaking on coughing/sneezing/laughing
• Urge incontinence  small amounts,
• Overflow incontinence  small volumes passed day & night, nocturia/nocturnal enuresis, hesitancy, poor
flow, straining, terminal dribbling & high post-void residual volume
EXAMINATION
• Cognition  perform an Abbreviated Mental Test Score if there are concerns regarding cognitive impairment
• Neurological  assess gait and check dorsiflexion of toes (S3), perineal sensation (L1-2), sensation of sole (S1)
and posterior aspect of thigh (S3)  rule out cauda equina
• Abdomen  masses, enlarged kidneys, distended bladder  DRE should be performed in all patients to
assess anal tone, presence of constipation or rectal mass and to assess prostate size in males
• Pelvis  inspection may reveal vaginal atrophy or prolapse  the pelvic floor muscle strength can be
assessed during vaginal examination  ask the patient to cough or strain to enable demonstrate stress
incontinence and repeat standing
• Cardiorespiratroy  look for signs of chronic lung disease and congestive cardiac failure
• Bladder scan  post-void scan
INVESTIGATIONS
• Simple investigations
o Frequency/Volume Charts  help determine the cause of urinary incontinence  complete a diary
over a three day period that records fluid intake, volume of urine passed and episodes of
incontinence
▪ Frequent small volums of urine  overactive bladder
▪ >1/3 of the 24hr urine is produced at night  nocturnal polyuria
▪ >2500ml urine/24hr  polyuria
▪ Excessive intake of fluid or increased fluid intake in the evening  increased frequency
o Urinanalysis (MC&S) check for
▪ Glucose  diabetes
▪ Protein  primary kidney pathology
▪ Leucocytes & nitrites  UTI
▪ Blood  renal stones or UT malignancy
o Blood tests
▪ FBC  leucocytosis may indicate infection
▪ U&Es  determine renal function and electrolytes
▪ Glucose  rule out diabetes
▪ Calcium  useful to rule out hypercalcaemia, which can cause constipation & confusion
o Imaging
▪ Post-void bladder scan  1st line investigation to rule out chronic retention of urine
▪ USS Abdo  requested if renal failure to evaluate kidney size and look for signs of obstructive
uropathy
▪ CT urography  requested if considering renal stones
▪ CT abdo  to exclude abdominal or pelvic masses if these are suspected
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▪ Intravenous Urogram (IVU)  useful if renal stones are suscepted  this has largely been
superceded by CT urography in most centres
• Specialist investigations
o Uroflowmetry  measures urine flow rates and is non-invasive  useful to diagnose bladder outlet
obstruction  most commonly uses rotating disc
o Ultrasound cystodynamogram  combines pre & post-void bladder scanning and gives information
regarding functional bladder capacity, flow rate and post-void bladder volume
o Cystometry  measurement of bladder pressure, sensation, capacity and compliance during filling &
voiding  bladder filled with saline with catheter to a pressure transducer and one in the rectum
o Videourodynamics  combination of cystometry and radiographic screening, so that both pressure
and visual information is obtained
o Ambulatory urodynamics  measure physiological fillings and pressures during a patients daily
routine  uses same transducer catheters as conventional urodynmaics, but connects them to a
small device and uses electronic continence pads
• Uroflowmetry
o Normal values
▪ Total voided volume >200ml
▪ Flow time 15-20secs
▪ Qmax >20mls/sex  reduces with age
▪ Smooth parabolic curve
o Volume voided  >150ml need to be voided for accurate interpretation
o Maximum flow rate  Qmax
Discuss the management of the major types of continence disorder.

CONSEQUENCES OF INCONTINENCE
• Incontinence may be a consequence of • Incontinence may lead to
o Chronic Lung Disease o Pressure ulcers
o Diabetes Mellitus o Falls
o Congestive Heart Failure o Depression
o Stroke o Impaired quality of life
o Parkinson’s disease o Admission to care homes
o Musculoskeletal disease o Skin infection
o Dementia o Isolation
o Multiple sclerosis
MANAGEMENT OF STRESS INCONTINENCE
• Pelvic floor exercises
• Patient Education
o Smoking cessation
o Weight reduction
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o Managing constipation
o Reducing alcohol & caffeine
• Medical  Duloxetine (SNRI) has some limited evidence to improve stress incontinence, but no longer
recommended by NICE  still used off licence
• Surgical
o Minimally invasive day case procedures are most common  mid-urethral sling insertion (TVT)
supports under the urethra
o Colposuspension  more invasive operation, but useful in associated cystocele
o Injecting bulking agents (silicone) into the urethra can also be performed although success rates are
much lower
• Multidisciplinary team
o Community continence advisor or physiotherapist  may assess pateints in their own home and
given advice or equipment – eg. pelvic floor exercises
o Pudendal Nerve stimulation  if a women’s initial pelvic floor contraction is weak, this can be used 
strength of stimulation can be altered as the muscle strength improves
o Vaginal cones  designed to improve awareness of pelvic musculature  pelvic floor has to be
contracted to keep cone in place  as the muscle strength improves, cones of increasing weight can
be used
MANAGEMENT OF OVERACTIVE BLADDER

• Patient-directed techniques
o Bladder training
o Prompted voiding  need to be mobile
o Timed voiding  fixed interval toileting
• Patient education
o Reduce fluid intake, especially in the evening
o Reduce caffeine and alcohol intake
o Weight reduction
o Manage constipation
• Surgical
o Sacral nerve stimulation
o Augmentation cystoplasty  rarely used now
• Medical
o Anti-muscarinic  mainstay of treatment  act on M3 receptors on detrusor muscles to reduce
contraction  eg. Oxybutynin, Solifenacin, Tolteridone and Darifenacin  SE – dry mouth,
constipation, blurred vision, cognitive impairment, urinary retention
o Beta-3-adrenoreceptor agonists (Mirabegron)  used if contraindication or intolerable side effects to
anti-muscarinic  cause bladder relaxation, which helps to fill and also store urine  CI in severe
cardiovascular disease as causes hypertension
o Intravaginal oestrogens  recommended for vaginal atrophy and symptoms of overactive bladder
o Botulinum toxin  injected into detrusor muscles via cystoscopy  inhibits neurotransmitter release
thereby decreasing contractility
• Multidisciplinary team
o Community continence advisor  assess patients in their own homes and offer advice and
information
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o Behavioural therapy  involves bladder retraining  a patient increase the interval between first
desire to void and actual voiding  1st line therapy in combination with pelvic floor exercises for a
min of 6 weeks
o Pelvic Floor exercises
MANAGEMENT OF BLADDER OUTLET OBSTRUCTION

• Patient education  patients should be given similar advice to overactive bladder
• Surgical  management will depend on cause and will require referral to urology or urogynaecology  a
transurethral prostatectomy (TURP) can be considered in cases of BPH
• Medical  there are 2 medical option for treating BPH
o Alpha adrenoreceptor antagonists  eg. Doxazocin  these drugs reduce the smooth muscle tone
of the prostate
o 5 alpha reductase inhibitors  eg. Finasteride  these drugs reduce prostate volume by blocking the
conversion of testosterone to dihydrotestosterone
• Multidisciplinary team  similar to overactive bladder
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Pressure Sores CP2 Learning Objectives Health Care of Later Life
PRESSURE SORES
Describe the epidemiology of pressure sores
• Cost the UK £1.4-2 billion per year
• A comparative study of patients with pressure ulcer in the UK, US & Canada demonstrated prevalence in
hospitalised patients of 4.7% to 32.1%
• In patients in community care the prevalence ranged from 4.4% to 33.0% and was 4.6% to 20.7% in patients
in nursing homes
• Among elderly patients being seen by a GP in the UK, an overall incidence rate of 0.58 ulcers per 100 person
 rates were considerably higher in people >85yrs
Describe the classification of pressure sores

• Pressure sore  a localised injury to the skin and/or underling tissue over a bony prominence as a result of
pressure, or pressure in combination with shear  shear forces occur due to the constant pull of gravity
against the body, and results in the patients’ body gradually slipping down the bed, chair or trolley
• Stage 1  non-blanchable erythema
o Intact skin over a non-blanchable redness of a localised area usually over a bony prominence
o Darlky pigmented skin will appear purple or bluish rather than red  may not have visible blanching
o Area may be painful, firm, soft, warmer, bluish tinge
o Patients should be considered at risk regardless of the Braden score
o Must commence a skin bundle and avoid positioning the patient on the affected area whenever
possible
• Stage 2  partial thickness
o Partial thickness loss of dermis presenting as a shallow open ulcer with a red/pink wound bed,
without slough
o May also present as an intact or ruptured serum-filled blister
o Presents as a shiny or dry shallow ulcer without slough or bruising (indicates deep tissue injury)
o This stage should not be used to describe skin tears, tape burns, incontinence associated dermatitis or
excoriation
• Stage 3  full thickness skin loss
o Full thickness tissue loss  subcutaneous fat may be visible, but bone, tendon or muscle are not
exposed
o Slough may be present, but does not obscure the depth of tissue loss  may include undermining
and tunnelling
o The depth of a stage 3 pressure ulcer varies by anatomical location
o Bone/tendon is not visible or directly palpable
• Stage 4  full thickness tissue loss
o Full thickness tissue loss with exposed bone, tendon or muscle  slough or eschar may be present
o Ulcers can extend into muscle and/or supporting structures (eg. fascia, tendon or joint capsule)
making osteomyelitits likely
o Often includes undermining or tunnelling
o The depth of a stage 4 pressure ulcer varies with anatomical location
• Deep tissue injury where it is difficult to stage  full thickness tissue loss in which actual depth of the ulcer is
completely obscured by slough and/or eschar in the wound bed  until enough slough and/or eschar are
removed expose the base of the wound, the true depth cannot be determined, but it will be either a stage 3
or 4
• Suspected deep tissue injury
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o Purple or maroon localised area of discoloured intact skin or blood-filled blister due to damage of
underlying soft tissue from pressure and/or shear
o The area may be preceded by tissue that is painful, firm, mushy, boggy, warmer or cooler as
compared to adjacent tissue
o Deep tissue injury may be difficult to detect in individuals with dark skin tones  evolution may
include a thin blister over a dark wound bed  the wound may further evolve and become covered
by thin eschar
o Evolution may be rapid exposing additional layers of tissue even with optimal treatment
• Moisture lesion  caused by chronic exposure to urine/faecal matter leading to skin appearing macerated 
extremely painful for the patient
List the risk factors and risk screening

• Skin is tested using the blanch test  looking for reactive hyperaemia (normal response) or pressure damage
• It is also important to assess for
o Pain or oedema in the area o Hardened area
o Warmer or cooler temperature over a o Broken skin
bony prominence
• Intrinsic risk factors
o Reduced mobility or immobility
o Vascular disease (reduced blood flow)
o Sensory impairment (neurological disorders, spinal cord injury lead to lack of stimulus to relieve
pressure
o Severe chronic or terminal illness
o Reduced level of consciousness
o Either the very young or the old (poorer circulations)
o Previous history of pressure damage (weak skin)
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o Malnutrition
o Dehydration
o Older people undergoing hip replacement surgery
o Acute illness
• Extrinsic risk factors  all factors that are involved that can cause injury  pressure, shearing and friction will
eventually lead to tissue damage
• Exacerbating conditions  medication (hypnotics, sedatives, inotropes) or moisture to skin
RISK ASSESSMENT
• Braden Risk Assessment Tool  all adult services within 2hrs of admission  reassess at least weekly and
upon change of condition
o Score 16 or less  high risk – 2hrly repositioning (red skin bundle)
o Score 17-20  medium risk (amber skin bundle)
o Score 21-23  low risk
• Braden Subscales  sensory perception
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• Braden Subscales  moisture
• Braden Subscales  activity/mobility
• Braden Subscales  nutrition
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• Braden Subscales  friction & shear
• Glamorgan scale  all children’s services within 2hrs of admission  score 10 or over are at risk
• Cubbin & Jackson  all critical care services within 6hrs of admission  score 40 or less are at risk
• Pressure Ulcer Assessment
o Cause of ulcer
o Site/location
o Photography
o Dimensions of ulcer
o Pain and/or odour
o Exudate & signs of local infection
o Stage – fistulae/sinus
Discuss the prevention of pressure sores
SKIN BUNDLES
• SSKIN
o Support surface  provide a mattress & cushion
o Skin evaluation  assess on repositioning  record blanch test
o Keep moving  record repositioning frequency and code
o Incontinence  assess for moisture lesions
o Nutrition  complete MUST tool
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EQUIPMENT
METHODS
• Repositioning 30o tilt  when patients are positioned correctly the sacrum should be clear of the mattress 
if patients have a tendency to roll back, then keep them in position using pillows and check them more
frequently
• Heels  heels should be ‘off-loaded’ using the aid of pillows  other products are available such as specialist
orthotic boots, repose boots or dermal heel pads
• Repositioning regimes  all ‘at risk’ patients should commence a 2hrly repositioning regime regardless of
what they are on  evaluate the regime by assessing the skin, if the skin isn’t marking you could try 3hrly
repositioning  4hrly regimes are not recommended
• Seating  patients at high risk or with existing damage should not sit out of bed for longer than 2hrs 
pressure relieving cushions should always be used for these patients
• Incontinence  actively manage and if patient should require pad and pants ensure they are checked at
every repositioning  follow guidance on barrier creams
• Nutrition  ensure patient has been risk assess and nutritional intake is monitored & evaluated  poor
nutrition is directly linked to skin breakdown and will compromise wound healing  also consider blood
results that could impact on wound healing (albumin, anaemia)
Discuss the principles of management of pressure sores

• Healing may not be a fast process, but generally as long as the patient has adequate pressure redistribution,
good nutrition and appropriate wound management  the ulcer will heal in most instances
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Type of dressing Wound description
Alginates made from calcium alginate, highly absorbent e.g. Sorbsan, All wounds with moderate to heavy
Tegaderm exudate
Cadexomer iodine: Iodine acts as antiseptic and Cardomer absorbs Sloughy infected with heavy exudate
wound exudate e.g. Povidone Iodine dressing
Capillary - action: Absorbent core of hydrophilic fibres in between low Only for heaving exuding sloughy
adherent wound contact layers. wounds
Films Use on epithelializing wounds with low
exudate
Foams: Contains hydrophilic polyurethane foam Best used on granulating wounds
Honey has antimicrobial/anti-inflammatory properties and can be used Use in infected wounds
as a topical or in combination with Alginates. Do not use if allergic to
bee sting
Hydrocolloids: Hydrocolloid layer on a vapour-permeable film or foam Not suitable for infected wounds but
pad. Also promote granulation e.g. Comfeel Plus. most types with low to moderate
exudate.
Hydrocolloid-fibrous e.g. Aquacel Moderate to heavy exudates
Silver –Antimicrobial effect. Infected wounds
Soft polymers e.g. Mepitel. Do not in heavy bleeding Granulating wounds
Hydrogel wounds Not suitable for infected wounds
• Reporting all pressure or moisture sores is imperative

o Inherited  patients are admitted with pressure damage from home, care home or another trust 
stage 3&4 are also inherited in occur within 72hrs
o Acquired  skin damage has occurred since admission to Trust and must be reported  if occurred
on previous ward make sure it has been documented – if not an incident form needs to be completed
• Tissue viability  if need help or advice contact tissue viability
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Nutrition CP2 Learning Objectives Health Care of Later Life
NUTRITION
Describe the common nutritional issues facing older people (particularly those with stroke disease, parkinsons disease
and dementias)
List the risk factors risk screening
Discuss the prevention of nutritional deficiencies and promotion of healthy eating
Discuss the principles of management of nutritional problems
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Terminal Care CP2 Learning Objectives Health Care of Later Life
TERMINAL CARE
Recognise the features present as a patient is nearing the end of their life
• Profound weakness
• Drowsy and disorientated
• Diminished oral intake  difficulty taking medication
• Poor concentration
• Skin colour and temperature changes
• Altered breathing  Cheyne stoking – alternating periods of swallow and deeper/rapid breathing
• Terminal agitation
• Respiratory secretions
• Nausea & vomiting
• Pain
Describe the methods of symptom control in terminal care

ANTICIPATORY PRESCRIBING
Pain Morphine
Agitation Levomepromazine, Midazolam
Nausea and Vomiting Levomepromazine
Breathlessness Morphine, Midazolam
Respiratory Tract Secretions Hyoscine Butylbromide
Experience communication and discussion with families at the end of life

• A “Good” Death
o Being treated as an individual, with dignity and respect
o Having symptoms well controlled
o Being in familiar, or preferred surroundings
o Being in the company of close friends and family
o A clear plan that everyone understands and agrees with
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Depression in Old Age CP2 Learning Objectives Health Care of Later Life
DEPRESSION IN OLD AGE

Describe the epidemiology of depression in old age
• Commonest old age psychiatric disorder
o 10-15% in older people generally
o 25-30% in residential home settings
o 30-35% in nursing home
o 40-45% in post-stroke survivors
o 25% of suicides are of older people
• Men >75 y/o historically have had the highest rates of suicide in nearly all industrialised countries  however,
rates have declined
• M:F  3:1
• Cultural differences apply  rates in elderly 1st generation Indian immigrants are low  in deprived inner city
areas - rates in elderly men are relatively low compared to young white men
• Men hang themselves and women poison themselves  in USA 60% shoot themselves
• Mood disorders  71% of 75-92yrs and 64% of 55-74yrs old
• Major depression in 60% of the most elderly suicides
• Mental disorders strongly correlate with suicidal feelings  30% of mentally disorder expressed pessimistic
thoughts and death wishes
• Of 1000 >75 y/o  50% of those with frequent suicidal thoughts had major depression
• Primary substance abuse disorders account for fewer suicides than in younger population
• It is well established that dementia is likely to be protective
• Illness contributes to suicide in 60-70%  higher rates in elderly males than females  especially important
in the 3 months prior to death  particularly
o Epilepsy o Peptic ulcer
o Multiple sclerosis o Rheumatoid arthritis
o Huntington’s Chorea o Association with cancer is inconsistent
o Head injury
• Particularly associated with
o Older men
o Widwo/er status or bereavement
o Living alone, social isolation
o Chronic physical ill health or pain
o Alcohol abuse
o Depressive episode
o Seen GP in last month  <70%
o Risk with previous attempts, planning and sleep disorders
List the clinical features including suicide
• Patient typically suffers from
o Lowering of mood
o Reduction in energy
o Decrease in activity
• Capacity for enjoyment, interest and concentration are reduced
• Marked tiredness is common  sleep usually disturbed
• Appetite frequently diminished
• Self-esteem and self-confidence almost always reduced
• Ideas of guilt and worthlessness often present
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• Low mood varies little day to day, little response to circumstance
• Early morning wakening, psychomotor retardation, loss of libido
ICD-10 CRITERIA
• Set 1
o Abnormally depressed mood, present for most of the day and almost every day, mostly uninfluenced
by circumstances, and sustained for at least 2 weeks
o Loss of interest/pleasure in activities which are usually pleasurable
o Decreased energy or increased fatiguability
• Set 2
o Loss of confidence or self esteem
o Unreasonable feelings of self reproach or excessive and inappropriate guilt
o Recurrent thoughts of death or suicide or any suicidal behaviour
o Diminished ability to think or concentrate
o Subjective or objective psychomotor retardation or agitation
o Sleep disturbance of any type
o Change in appetite with corresponding weight change
CLASSIFICATION
• Mild  at least 2 symptoms from set 1 and additional symptom/symptoms from set 2 to give a total of least 4
• Moderate  at least 2 symptoms from set 1 and additional symptoms from set 2 to give a total of least 6
• Severe  all 3 symptoms from set 1 and additional symptoms from set 2 to give a total of least 8 
plus/Minus psychotic symptoms
Discuss the bio-psycho-social management of depression in old age

• Monitor the risk of self harm.
• Educate patient (& care givers) about depression and involve in partnership and treatment decisions.
• Treat whole person
o Co-existing physical disorder
o Attention to sensory deficits and other handicaps
o Sign-post patient to appropriate social care agencies
o Review medication to withdraw those unnecessary.
• Treat depressive symptoms aiming for complete remission (as residual symptoms a risk factor for chronic
depression); antidepressants (SSRI) for moderate/severe but use psychological therapy with mild (or both
with moderate).
• Prompt referral of patients requiring specialist mental health services .
• Antidepressants not recommended as 1st line in recent onset, mild depression
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o Active monitoring
o Individual guided self help
o CBT
o Exercise all preferred
• Antidepressants recommended for moderate to severe depression
• When antidepressants prescribed, generic SSRIs recommended  all patients should be informed about
withdrawal effects
• For treatment resistant depression recommended strategies include
o Augmentation with lithium/antipsychotics
o Addition of second antidepressant
• Patients with 2 prior episodes and functional impairment should be treated for at least 2 years
• ECT is supported in severe and treatment resistant depression
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Dementia CP2 Learning Objectives Health Care of Later Life
DEMENTIA
eLearning: Dementia – Psychiatric Problems
Describe the epidemiology of dementia

• The number of people living with dementia worldwide is estimated to be 47.5 million  this is projected to
increase to 75.6 million by 2030
• There are 850,000 people with dementia in the UK  equates to 1 in every 79 people
• The cost of dementia to the NHS is £26 billion per year
• The proportion of people with dementia doubles for every 5 year age group
• 1/3 of people aged >95yr have dementia
• 2/3 of people who have dementia are women
• There will be over a million people with dementia in 2025
• The prevalence is 5% over the age of 65 and 20% over 80
• 15,000 younger people have dementia in the UK
• 60,000 deaths a year are attributable to dementia and 64% of those living in care homes have some form of
dementia
• Family carers of patients with dementia are estimated to save the NHS over £6 billion a year
• Most common form of dementia is Alzheimer’s disease affecting 500,000 people in the UK  with vascular
dementia second affecting 150,000 people in the UK
List the major types of dementia

• Dementia  severe impairment or loss of intellectual capacity and personality integration, due to the loss of
or damage to neurones in the brain  loss of cognitive ability in a previously unimpaired person beyond what
might be expected from normal ageing
• The word dementia describes a set of symptoms that may include
o Memory loss
o Difficulties with thinking
o Problem-solving
o Language
• All types of dementia are progressive  this means that the structure and chemistry of the brain become
increasingly damaged over time  the person’s ability to remember, understand, communicate and reason
gradually declines
• DSM-5 Diagnostic Criteria
o Evidence of impairment of memory and a least one of
▪ Language impairment
▪ Apraxia
▪ Agnosia
▪ Impairment of executive function
o Impairment of functioning
o No other medical or psychiatric explanation
o Present for at least 6 months
• Mild Cognitive Impairment (MCI)  when there is evidence of early memory decline on formal memory
testing (eg. MMSE)  10-15% with MCI develop dementia within a year
• NB  mild memory problems can be an indication of the early stages of dementia or may be due to problems
with depression, anxiety, stress or a physical problem
CLASSIFICATION
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• Primary dementia  dementias that are not due to an alternative cause
• Secondary dementia  dementias that occur as a result of physical disease or injury
• Cortical dementia  dementias causing with memory, language, thinking & social skills
• Subcortical dementia  dementias causing problems with emotions, movements and memory problems
• Progressive dementia  dementias that deteriorate over time
TYPES OF DEMENTIA
• Alzheimer’s (62%)  most common type of dementia affecting 500,000 people in the UK  risk of developing
AD increases with age  approx. 95% of patients with AD are >65yrs  characterised by plaques and tangles
in the brain  cause is unknown
• Vascular dementia (17%)  2nd most common type of dementia  often progresses in a stepwise manner 
caused by reduced blood supply to the brain due to diseased blood vessels  symptoms may develop
suddenly – eg. after a stroke, or more gradually, such as with small vessel disease
o Post-stroke dementia o Multi-infarct dementia
o Single infarct dementia o Sub-cortical dementia
• Mixed dementia (10%)  a combination of Alzheimer’s and Vascular dementia
• Lewy body (4%)  this affects approx. 25,000 people in the UK  many of the symptoms are similar to those
of AD – eg. memory deterioration, poor attention and communication difficulties  often show symptoms of
Parkinsonism and hallucinations  due to spherical deposits of protein, but of unknown cause
• Other causes (3%)  rarer dementias include
o Creuztfeldt Jakob
o Huntington’s disease
o Dementias associated with high alcohol intake  Karsakoff’s
o Dementias related to reversible conditions, such as B12 deficiency or hypothyroidism
• Frontotemporal (2%)  rare form of dementia and actually describes a variety of conditions  it includes
Pick’s disease  it is more common in adults <65yrs  the early signs are personality & behaviour changes as
opposed to memory decline and difficulties in language
• Parkinson’s (2%)
AETIOLOGY
• Degenerative causes
o Alzheimer’s Disease
o Frontotemporal dementia
o Lewy Body Dementia
o Parkinson’s Disease
o Progressive supranuclear palsy
• Vascular causes
o Multi-infarct dementia
o Cerebral infarcts
o Binswanger’s disease
o Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
(CADASIL)
o Vasculitis  eg. lupus
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Describe and recognise the brain changes that occur in dementia, and genetic contributions
• The majority of dementias result from a combination of multiple genetic contributors  although lifestyle
and environmental factors are also important and probably influence both how genes are expressed and how
the patient presents clinically
• Areas of the brain
o Frontal lobe  affects personality and decision making ability
o Temporal lobe  amygdala, hippocampus, etc..  memory, emotion
o Parietal lobe  coordination, speech and language
o Occipital lobe  vision
EARLY ONSET ALZHEIMER’S DISEASE

• Rare compared to late onset Alzheimer’s
• Autosomal dominant
• The 3 genes are:
o Amyloid precursor protein (APP)  chromosome 21
o Presenilin gene 1 (PSEN-1)  chromosome 14
o Presenilin gene 2 (PSEN-2)  chromosome 1
• If one of these genes is present, then the disease is developed aged 30-40yrs
• If 2 or more close relative develop Alzheimer’s below the age of 60  a patient should be considered for
genetic screening
LATE ONSET ALZHEIMER’S DISEASE

• This is classified as Alzheimer’s disease developing in the over 65’s and is the most common form, responsible
for 99% of all Alzheimer’s disease
• Its development is linked to the apolipoprotein E gene (APO-E)
• There are 3 types: APO-E2, APO-E3 and APO-E4. Everyone has two copies of the gene and these may be of the
same type or different
• APO-E4 is associated with a higher risk of Alzheimer’s. About 25% of people inherit a single copy of this gene
and this will increase their risk of Alzheimer’s by up to 4 times. 2% of the population will inherit 2 APO-E4
genes, one from each parent, and this will increase the risk of Alzheimer’s by about 10 times
• The APO-E3 gene is inherited in a double form by 60% and approximately 50% of this group will develop
Alzheimer’s by their late 80’s
• APO-E2 is mildly protective against Alzheimer’s. 11% of the population have 1 copy and 0.5% have 2 copies of
it
• The gene is variably expressed and the presence of genotypes associated with Alzheimer’s disease, do not
mean that a patient will develop the condition for certain
• There is ongoing genetic research into this subject
VASCULAR DEMENTIA
• Single-gene defects are responsible for rare variants of the disease
• The Notch3 gene is linked with cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy (CADASIL)
• A variation in the APP gene causes heritable cerebral haemorrhage with amyloidosis (HCHWA)
• Hypercholesterolaemia, hypertension and diabetes contribute to the development of vascular dementia and
all of these have a genetic component
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OTHER CAUSES
• Down’s syndrome  patients with trisomy 21 have a 50% change of developing Alzheimer’s by their 6th
decade
• Huntingdon’s disease  autosomal dominant with a defect in Huntingtin gene  dementia can occur at any
stage, but often present quite young  offspring of affected patients have a 50% probability of developing
the condition
• Frontotemproal dementia  these are strongly heritable  a number of faults of the tau gene have been
implicated
Discuss the clinical features seen in dementia

SYMPTOMS
• Alzheimer’s disease
o Forgetting names, people & places o Confusion about time of day
o Reptitive o Getting lost
o Misplacing items in odd places o Problems with word finding
o Confusion about time of day o Mood or behaviour problems
• Vascular dementia
o Problems with planning or organising, making decision or solving problems
o Difficulties following a series of steps  eg. cooking a meal
o Problems concentrating  including short periods of sudden confusion
• Lewy body dementia
o Hallucinations
o Attention
o Mood swings
o Deterioration of physical abilities  similar to Parkinson’s disease
RISK FACTORS
• Smoking  increases the risk of mental decline  have a higher risk of atherosclerosis and hence vascular
dementia
• Alcohol  drinking large quantities of alcohol has been shown to increase the risk of dementia  in contrast,
moderate alcohol consumption has been shown to be protective
• Atherosclerosis  those with known artherosclerosis are at an increased risk of vascular dementia  there
are also some studies which suggest it may be linked to Alzheimer’s disease
• Hypercholesteroiaemia  raised LDL-cholesterol can increase the risk of vascular dementia  it is also a risk
factor for atherosclerosis and stroke, both of which contribute to vascular dementia & Alzheimer’s disease
• Age  the risk of several types of dementia increases with increasing age  this is particularly the case for
Alzheimer’s disease and vascular dementia
• Genetics
• Mild cognitive impairment  people with MCI are at increased risk of developing dementia
PHASES OF SYMPTOMS
• Early
o Difficulty embracing change
o Repetition of questions
o Short term memory loss
• Middle
o Failure to recognise people
o Difficulty with daily tasks
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o Needs prompting
• Late
o Weight loss
o Incontinence
o Aggression
o Decline in speech
Describe the mechanisms of action of drugs used in dementia

• Medicines can be used in AD to temporarily alleviate symptoms or slow down progression in some people
• 1st line  Cholinesterase inhibitors  eg. donepezil, rivastigmine & galantamine
• 2nd line  NMDA (N-methyl-D-aspartate) receptor antagonists  eg. memantine
List the differential diagnoses of a patient with possible dementia

• Delirium
• Infection
• Medication
• Hypernatraemia
• Intoxication
Discuss the behavioural and psychiatric symptoms of dementia and management approaches to them
• Causes of distressed behaviour
o Inability to communicate
o Difficulty with tasks
o Unfamiliar surrounding
o Loud noises, frantic environment
o Physical discomfort
• All patients aged 75yrs and over who are admitted to hospital (unplanned) are to be screened for dementia
 usually using AMT, then MOCA
• Patients who are admitted with a known dementia  gather as much information as possible, speak to
people who know the best
• Nursing staff use “This is Me” in order to gather vital information about the person in order to plan and
delivery person centered care
• Other management approaches include cognitive stimulating therapy (CST)
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Delirium CP2 Learning Objectives Health Care of Later Life
DELIRIUM
eLearning: Delirium – Psychiatric Problems
Describe the epidemiology of delirium

• Delirium is sometimes referred to as an acute confusional state  it is common and needs to be treated
seriously as it often reflects severe underlying illness and has a high mortality
• The prevalence of delirium in general hospitals is about 20%  this varies by patient group
• Patients with dementia are 5-10 times more likely to develop delirium
• Half of all delirium occurs in people with prior dementia, and two-thirds of people with dementia in general
hospitals have delirium
• Percentages of delirium in a variety of environments
o Acute Medical Admissions  10%
o Post-General Surgery  15%
o Acute Stroke  25%
o Acute Geriatric medical wards  30%
o Post-hip Fracture Surgery  50%
o Intensive Therapy Unit  60%
o Palliative Care Units  80%
• Delirium is associated with
o Increased mortality  1yr mortality following an admission with delirium is 40%
o Prolonged hospital admission
o Higher complication rates
o Institutionalisation
o x3 increased risk of developing dementia
• Delirium may be prevented in up to a third of patients
Describes the types of delirium

• Delirium can be subdivided into several types
o Hypoactive  40%
o Hyperactive  25%
o Mixed  35%
• Hypoactive delirium  characterised by apathy, withdrawal, lethargy & reduced motor activity  most
common type, but often goes unrecognised and can be mistaken for depression  patients have longer
hospitals stays and are at higher risk of complications associated with reduced mobility (eg. pressure sores)
• Hyperactive delirium  characterised by increased motor activity and associated agitation, hallucinations and
challenging behaviours  more likely to be recognised, but patients often get treated inappropriately with
sedating drugs
• Mixed delirium  patients have a mixed picture when suffering with delirium  this often will fluctuate
during the course of a day  sleep-wake disturbance
AETIOLOGY
• Infection • Deficiencies
• Withdrawal • Endocrine
• Acute metabolic • Acute vascular
• Trauma • Toxin
• CNS pathology • Heavy metal
• Hypoxia
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Describe the clinical features of delirium
• Delirium  a state of mental confusion that develops quickly and usually fluctuates in intensity  it is a
neuro-psychiatric syndrome
• Definitions
o Arousal  magnitude of response to perceived stimuli
o Cognition  the mental process of thinking and knowing, including aspects such as awareness,
perception, memory, language, reasoning and deciding
o Consciousness  alertness plus awareness
o Attention  ability to focus the mind and sustain focus, on an environmental stimulus, idea or series
of connected ideas
o Awareness  self perception or inward sensibility
o Alertness  ability to respond to external stimulus
• The diagnostic criteria for delirium are based on DSM-5  the key criteria for diagnosis are
o A disturbance of consciousness with reduced ability to focus, sustain or shift attention
o A change in cognition that develops over a short period of time that is not better accounted for by a
pre-existing, established or evolving dementia
o Tendency to fluctuate during the course of the day, with disturbance of the sleep wake cycle
o Evidence from the history, examinations or investigations that the delirium is a direct consequence of
a general medical condition, drug withdrawal or intoxication
• Disturbance of consciousness  the key is reduced attention, which is the ability to focus, sustain or shift
mental focus  patients demonstrate distractibility, drowsiness or reduced vigilance  attention is an
unfamiliar and difficult aspect to test – mostly observed during interview
• Worsening confusion  a change in cognitions (memory deficit, reasoning or language disturbance) OR the
development of a perceptual disturbance (hallucination not accounted for by dementia)
• Acute onset with fluctuating course  the disturbance develops over a short period of time (hrs-days) 
tends to fluctuate during the course of the day, in particular being worse at night
• There are several other associated features
o Delusions  often paranoid  tend to be fleeting and lack any system or logic
o Emotional changes  anxiety, fear or depression
o Motor changes  slowness, restlessness or agitation
o Hallucinations  often formed and animated
o Cognitive deficits
▪ Language difficulties  word finding difficult
▪ Speech disturbances  slurred, mumbling, incoherent or disorganised
▪ Memory dysfunction  marked short-term memory impairment, disorientation to PPT
▪ Perceptions  misinterpretations, illusions, delusions and/or visual or auditory hallucinations
▪ Constructional disability  cannot copy a cube
• Hypoactive or apathetic delirium is hard to spot  the patient is quiet, withdrawn, lacks initiative and
responds poorly to interaction
• Behaviours are a response to abnormal thought, perceptions or emotions  eg. aggression or restlessness
CLINICAL CHARACTERISTICS
• Develops acutely  hrs to days
• Characterised by fluctuating level of consciousness
• Reduced ability to maintain attention
• Agitation or hyper-somnolence
• Extreme emotional lability  crying/laughing
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• Cognitive deficits can occur
• AMT < 8 out of 10
EXAMINATION
• Conscious level  use GCS or AVPU
• Cognitive function  use Abbreviated Mental Test (AMT) or MMSE  a score of <8 is abnormal on AMT
o Age o Recognition of 2 people
o Time o Date of Birth
o Address for recall o Year of first world war
o Year o Name of current monarch
o Name of hospital o Count backwards 20-1
• Infection screen  examine for potential source of infection
• Nutrition & hydration  assess status
• Constipation  rule out urinary retention & constipation be performed an abdominal exam and DRE 
consider post-void bladder scan
• Neurology  perform a neurological examination including speech
CONFUSION ASSESSMENT METHOD (CAM)

• The CAM assessment involves assessing patients for 4 features
o Acute onset & fluctuating course
o Inattention
o Disorganised thinking  includes slurred speech
o Altered level of consciousness
• Acute onset & fluctuating course  ask a family member/nurse – “is there evidence of an acute change in
mental status from the patient’s baseline?”  does the abnormal behaviour fluctuate during the day,
decrease or increase in severity or come & go?
• Inattention  does the patient have difficulty focusing attention – eg. easily distractible or having difficulty
keeping track of what is being said
• Disorganised thinking  is the patient’s thinking disorganised or incoherent – such as rambling or irrelevant
conversation, unclear or illogical flow of ideas, or unpredictable switching from subject to subject
• Altered level of consciousness
o Alert  normal
o Vigilant  hyperalert
o Lethargic  drowsy, easily aroused
o Stupor  difficult to arouse
o Coma  unarousable
List the risk factors and precipitants for delirium

• Predisposing risk factors
o Dementia or Cognitive impairment o Current hip fracture
o Physical frailty o Severe illness
o Multiple co-morbidities o Polypharmacy
o Older age  >65yrs o Malnutrition
o Sensory impairment  eg. Vision o Alcohol excess
o Aged >65yrs
• Precipitating risk factors
o Drug initiation/withdrawal o Surgery
o Acute brain disease o Metabolic abnormalities
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o Systemic infection o Anaemia
o UTI o Pain
o Hyponatreamia o Orthopaedic or cardiac surgery
o Hypoxaemia o ICU admission
o Shock o High number of hospital procedures
Discuss the prevention of delirium

• Patients at high risk should be identified on admission and prevention strategies incorporated into their care
plans
• Keep orientated and promote the familiar
• Facilitate vision & hearing  glasses, light & hearing aid
• Keep hydrated and well fed
• Reduce medication, avoid anti-cholinergic drugs & opiates
• Keep mobile & active
• Promote night time sleep
• Minimise provocation  noise, tubes & restraints
Discuss approaches to management of a patient with delirium
INVESTIGATIONS
• 1st line investigations o Lumbar puncture
o FBC o CT head
o TFT o EEG
o LFT o MRI head
o U&E o Specific cultures
o Glucose o ABG
o CRP
o ECG
o Urinalysis
o CXR
• 2 line investigations
nd
MANAGEMENT
• The management approach to a patient with delirium involves 4 main elements
o Identify and treat the underlying cause
▪ Removal of offending medications
▪ Treatment of infection
▪ Correction of hypoxia and metabolic derangement
o Management of the symptoms of delirium
▪ Nurse in an optimal environment  quiet, light, appropriate numbers of staff, orientation
cues  open bays are not ideal but there needs to be a trade-off taking into consideration
the need for observation and patient safety
▪ Promote orientation  clocks, orientation boards, mealtimes
▪ Analgesia as required but avoid opiates if possible
▪ Maintain hydration and nutrition
▪ Good sleep hygiene  i.e. avoid sleep during the day, avoid stimulants and too much fluid
before bed
▪ Regular clinical updates with relatives and encourage them to be in attendance
▪ Consider 1 to 1 nursing care
▪ Use the least restrictive option with wandering patients
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▪ Avoid agreeing with rambling speech by tactfully disagreeing  changing the subject while
acknowledging feelings but ignoring content
▪ Keep the use of sedative drugs to a minimum
o Prevention of complications
o Patient and relative explanations
• The use of sedative medication should be kept to a minimum  agitated behaviour in a patient with delirium
often has an underlying cause  eg. pain, constipation, frustration at inability to communicate needs or being
frightened by delusions/hallucinations/misperceptions
• Sedative drugs can precipitate delirium  should only be used after attempts at other forms of management
have been tried  main reason for use is to treat distressing symptoms or distressing behaviour
• There are two different functions for the use of sedative drugs
o For rapid tranquilisation of an agitated patient when there is an immediate risk of harm or danger
o Short term control of distress  only use one drug and start at the lowest dose possible considering
increasing increments after 2hrs  Haloperidol IV or Lorazepam
• Pharmacological Management
o Haloperidol 0.5mg BD  unless patient has Parkinson’s Disease or Lewy Body Dementia
o Olanzepine may also be used
o Lorazepam may be used for rapid tranquilisation
RECOVERY
• Despite acute onset, delirium is often slower to resolve  it does improve in most cases although patients
with a prior dementia may not reach their pre-delirium functional state
• Recovery from delirium may be slow
o 40% persist at 2 weeks
o 33% at 1 month
o 25% at 3 months
o 20% never recover
DEMENTIA VS DELIRIUM
Delirium Dementia
mode of onset: acute or subacute chronic or subacute
poor attention: characteristic late event
conscious level: often affected - may be wild normal
fluctuations
hallucinations and misinterpretations: common late events
fear, agitation and aggression: common not common in the early stages
totally disorganised thought with palpably common - often flight of ideas late feature - usually poverty of
unreal ideas: thought
motor signs: postural tremor, myoclonus, none, or late feature
asterixis
speech: slurred normal
dysphasia: none often present
dysgraphia: often prominent if present, in keeping with degree
of dementia
short and long term memory: poor often normal until late
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Paranoid Disorder in Old Age CP2 Learning Objectives Health Care of Later Life
PARANOID DISORDER IN OLD AGE

Describe the epidemiology of paranoid disorders in old age
Discuss the clinical presentation of paranoid disorders in old age

• Risk factors
o Female
o Living alone
o Never marries
o Sensory impairment
o Paranoid or Schizoid personality
o Socially isolated
List the differential diagnosis of paranoid disorder in old age

• Causes of psychosis in older people
o Delirium
o Dementia
o Delusional disorder
o Organic
▪ Post CVA
▪ Subdural haemotoma
▪ Epilepsy
▪ Uraemia
▪ Hepatic encephalopathy
• For diagnosis it is important to
o Exclude delirium  bloods & physical examination
o Exclude dementia  MMSE
o Exclude psychotic depression/mania
Discuss and demonstrate the principles of management of paranoid disorder in old age
• Establish therapeutic relationship
• Treat sensory deprivation
• Treat physical problems  pain, mobility
• Consider risks  MHA
• Change environment
• Anti-psychotics  Risperidone
o Informed consent  acknowledge their feelings
o Consider falls, EPSEs, cardiac risks, sedation
o Avoid polypharmacy
o Monitoring
o Use low dose depot in non-compliance
o Risk CVA in dementia
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Elder Abuse CP2 Learning Objectives Health Care of Later Life
ELDER ABUSE
Describe the epidemiology and types of elder abuse
• Elder abuse  ‘any single or repeated act or lack of appropriate action, occurring within any relationship
where there is an expectation of trust, which causes harm or distress to an older person’
• Prevalence of abuse established at 4%  500,000 people abused each year  excluded care homes & NHS
institutions
• Happens to both men and women  women >70yrs are most at risk
• 2006 UK National Prevalence Study  this showed that of older people in the community
o Up to 5% were suffering from verbal abuse
o Up to 2% were the victims of physical abuse
o 2% were the victims of financial abuse
• There have been no prevalence studies undertaken in the UK on abuse in residential care settings 
American studies suggest a higher prevalence of between 5-10%
• Legal framework
o Human Rights Act (1998)  “All persons have the right to live their lives free from violence and
abuse”
o No Secretes (DoH, 2000)  now superceded by Care Act 2014
• Abuse  when someone we expect to trust causes us harm or distress  types of abuse:
o Sexual  forcing a person to take part in any sexual activity without his/her consent
o Neglect  deprivation of food, heat, clothing, comfort or essential medication
o Physical  hitting, slapping, burning, restraining, rough handling, giving too much or wrong
medication
o Financial  illegal or unauthorised use of a person property, money, pension book or other valuables
o Psychological/Emotional  shouting, swearing, frightening, blaming, ignoring or humiliating
o Modern slavery
o Domestic
o Self-neglect
o Organisational
• The Abusers  in decreasing order of likelihood
o Partner  35%
o Neighbour & Acquaintances  33%
o Other family  33%
o Home help  9%
o Friend  3%
• Women are more likely to be abused than men
Recognise the features and presentation of elder abuse

• Signs of abuse
o Recurrent or unexplained physical o Depression
injuries o Withdrawal
o Non-treatment of medical problems o Fearfulness
o Poor personal care o Imposed social or physical isolation
o Malnutrition o Oversedation or misuse of medication
o Dehydration
• Potential for Abuse to occur
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o Severe cognitive impairment
o Severe physical impairment
o Depression or longing for death
o Anxiety
o Mention of punishment by elder or caretaker
o Family history of violence
o Isolation of carer
o Refusal of outside services
o Control of finances by family or caretaker
o Conflicting stories
o Physician Shopping
o Hostility
o New Poverty
o Fear of Caregiver
o New Health Problems
• Recognising abuse
o Strained relationships
o Withdrawal from social activity
o Over emphasis of normality
o Struggling financially
o Being spoken to harshly
o Appearing fearful or nervous around individuals
Discuss the management principles of elder abuse

• People involved in management  team approach
o Medic
o Nurse
o Social worker
o Psychiatrist
o Safeguarding Teams
o Police
• What we can do
o Documentation  incident report form
o History  listening in appropriate circumstances  who is caring, what support and teams are
involved
o Examination  open mind and a “wide-angle lens”
o Making Safeguarding personal  Care Act 2014
o Multi-Agency Safeguarding Hub (MASH)  work for social care, and appoint an investigator to look
into concerns
o Mental Capacity Act Section 44  criminal offence to ill treat or neglect
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Dermatology CP2 Learning Objectives Specials
PARKINSON’S DISEASE & MOVEMENT DISORDERS

Discuss the clinical presentation of movement disorders
• Bradykinesia  slowness of movement
• Muscle rigidity
• Resting tremor
• Postural instability with no other cause
• Anosmia  loss of sense of smell
• Depression
• Constipation
• Mask-like face
• Quiet dysarthric voice  slurred or slow speech that can be difficult to understand
• Micrographia  abnormally small, cramped handwriting or the progression is continually smaller handwriting
• Gait problems/falls
• Dementia (advanced disease)
Discuss the diagnosis of movement disorders

• Primarily uses a clinical diagnosis  but confirmed by DAT Scan and exclusions of other diagnoses
• Diagnostic criteria for Parkinson’s
o Bradykinesia (upper body)  slowness of movement
AND
o Muscle rigidity
OR
o Resting tremor (4-6Hz)
OR
o Postural instability with no other cause
• Supportive features
o Unilateral onset
o Rest tremor present
o Progressive
o Persistent asymmetry affecting side of onset most
o Excellent response to levodopa
o Severe levodopa-induced chorea
o Levodopa response for 5 years or more
o Clinical course of ten years or more
• SPECT scanning  DAT (dopamine active transporter) is located on the pre-synaptic terminals on
dopaminergic neurones  [123I] beta-CIT is a radiolabelled cocaine derivative that binds to DAT 
degeneration of nigrostriatal neurones will be associated with reduced ligand binding
Normal Scan Abnormal Scan
Normal Idiopathic PD
Essential tremor Multiple system atrophy
Drug induced EPS PSP
Somatisation Lewy body Dementia
Describe the aetiology of movement disorders
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• Parkinson’s disease is caused by loss of the dopamine producing cells in the Substantia Nigra  it is unknown
what causes this
• Thought to be a combination of genetic predisposition and environmental factors
• Environmental factors
o Toxins
▪ MPTP
▪ Pesticides
▪ Rural living
▪ Drinking well water
▪ Manganese
o Infections  post-encephalitic parkinsonism
o Head injury
• Protective factors  cigarette smoking & caffeine
Discuss the prevalence of movement disorders
• 0.3% of over 40s suffer with Parkinson’s
• 2% of over 80s suffer with Parkinson’s
• 120,000 sufferers in the UK  1 in 500 people
• 1 in 20 are diagnosed under 40 y/o
• 1.35 men: 1 women
Discuss the risk factors of movement disorder

• Age
• Family History
• Non-smoker
• Others controversial
Describe the pathophysiology of movement disorders

• Reduction in dopamine secreting neurons via cell death  leading to lack of dopamine
• Involves lewy body formation (inclusion bodies) in basal ganglia.
Discuss the management of movement disorders

• There is no cure for Parkinson’s  all treatment is symptomatic
• Pharmacological  increase synaptic dopamine
o Levo-dopa  co-beneldopa & sinemet
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▪ Replace dopamine using peripheral decarboxylase inhibitor to prevent peripheral breakdown
▪ First line in elderly
▪ Can cause  transient nausea, dramatic improvement in stiffness and may improve tremor,
but less so
o Dopamine agonist  rotigotine & ropinorole
▪ Active post-synpatic receptors
▪ Neuropsychiatric side effects  impulse control disorder or hallucinations
o Others
▪ MAO-B inhibitors  selegiline & rasagaline
▪ Amantadine
▪ Entacapone
• Non-pharmacological
o Comprehensive Geriatric Assessment
o Social support & care
o Driving
o Education & advice (1:1/group)
o OT  equipment, environment
o Physio  especially once falling
o Non-motor symptom control
▪ Constipation
▪ Sleep
▪ Autonomic dysfunction
▪ Mood
▪ Dementia  rivastigmine
• Key rehabilitation strategies
o Use of external cues to help initiate & maintain movement or action
o Avoidance of multi-tasking during tasks
o Breaking complex activities in a series of simpler components
LEVODOPA
• L-dopa  usually max dose = 600-1000mg/day, with plasma half-life of 60-90mins  most effective
treatment and well tolerated by the elderly  its duration of action may be longer as it is taken up by
neurones and slowly released
• Side effects of L-dopa
o Nausea & vomiting
o Postural hypotension
o Hallucinations & confusion
o Motor side effects common in prolonged use
▪ Wearing off
▪ Dyskinesia
▪ Motor fluctuations  on/off effect
DOPAMINE AGONISTS
• Examples
o Ropinerole
o Pramipexole
o Rotigotine (patch)
o Apomorphine (subcut)
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• Side effects
o Nausea
o Postural dizziness
o Hallucinations
o Ankle swelling
o Somnolence
o Impulse control disorder (<13%, young men > older women)
▪ Gambling, hypersexuality, binge eating, compulsive shopping, punding
▪ Compulsion to perform repetitive mechanical tasks  collecting, assembling & taking apart
• Motor problems
o Inadequate treatment effect o Freezing
o Wearing off o Dyskinesia: peak dose, diphasic
o “on-off” o Early morning foot dystonia
o Dose failures
• Non-motor problems
o Constipation o Hallucinations
o Anxiety o Dementia
o Depression o Apathy
o Excessive daytime sleepiness o Delirium
o REM-sleep behaviour disorder o Vivid dreams
o Pain o Insomnia
o Dysphagia o Restless legs
o Drooling o Detrusor instability
o Dysphonia o Sexual dysfunction
o Postural hypotension o Anosmia
o Falls o Fatigue
o Seborrhoeic dermatitis o Diplopia
Discuss the prognosis of movement disorder

• Variable
• Only modest increase in mortality compared to controls, especially in older patients
• Disability (esp dementia) often bigger problem than mortality
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Discuss other movement disorders
ESSENTIAL TREMOR
• Prevalence  5%
• 50% have family history
• Postural not resting
• Affects arms/head not legs
• Better after alcohol  often leads to self-medication
• Will not progress to other symptoms  eg. no dementia and normal life expectancy
• Slight response to treatment  beta blockers
VASCULAR PARKINSONISM
• Due to small vessel ischaemia
• Associated with artherosclerotic risk factors
• Causes falls, voice changes and early cogntitive deficits
• Legs are more affected than arms  bilateral
• Stepwise rapid progression
• Poor response to levo-dopa  so control risk factors
DRUG-INDUCED PARKINSONISM
• Parkinson’s due to lack of dopamine  therefore, dopamine antagonists can induce parkinsonism  eg. anti-
psychotics & anti-emetics
• Most resolve when drugs stopped however, patient may still require anti-psychotics (quetiapine is lower
risk)
LEWY BODY DEMENTIA

• Dementia before parkinsonism
• Visual hallucinations, but anti-psychotics worsen the effects
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OSTEOPOROSIS
Discuss the clinical presentation of osteoporosis
• Osteoporosis  a condition of skeletal fragility characterised by reduced bone mass and micro-architectural
deterioration predisposing to an increased risk of fractures
• WHO defines osteoporosis by bone mineral density (BMD) measurement, which allows diagnosis and
treatment of osteoporosis prior to incident fracture
o Asymptomatic
o Pain or loss of height with development of kyphosis cause by fragility fractures
o Features of underlying disease  eg. Cushing’s syndrome
Discuss the diagnosis of osteoporosis

• Clinical significance lies in the fractures that occur  vertebrae, hip and wrist (colles fractures).
• BMD measured using dual-energy absorptiometry (DEXA) scanning
o Osteoporosis  T-score <-2.5 SD  SD below young adult standard
o Osteopenia  T-score of ≤ -2.5 but >-1
o Use Z score for patient less than 50 years old
• Investigations
o Renal function test
o Bone profile  calcium, Vitamin D, phosphate, alkaline phosphate & parathyroid
hormone
o Thyroid function test
o Bone turnover markers
o Multiple myeloma screen  ESR, Serum immunoglobulins and protein electrophoresis &
urinary Bence Jones protein
o Consider cortisol, testosterone, oestradiol, PSA, tTG
Discuss the prevalence of osteoporosis

• Increased incidence in women than man
• Increase incidence with age
• Men more likely to have secondary cause
Discuss the aetiology of osteoporosis

• Bone remodelling involves resorption by osteoclasts and replacements by osteoblast  develops in older
adults when normal process of bone formation and resorption become uncoupled or unbalanced resulting in
bone loss
• Drugs  steroid, sex hormone antagonist, lithium, anti-convulsant and heparin
• Endocrine  Cushing, Acromegaly, Hypopituitarism and Prolactinoma
• Inflammatory  Rheumatoid arthritis, Ank spondylitis and IBD
• Nutritional  Vit D, Ca and malabsorption syndrome
• Genetic  Marfan, Osteogenesis imperfecta and Turner syndrome
Discuss the risk factors of osteoporosis

• Previous fracture
• Family history
• Excess alcohol
• Smoking
• Corticosteroid treatment
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• Amenorrhoea for 6 months (excluding pregnancy)
• Late menarche
• Early menopause including surgical menopause
• Immobility/ physical inactivity
• Drugs  heparin, phenytoin
• Inflammatory arthritis-rheumatoid arthritis, ankylosing spondylitis
• Gastrectomy
Discuss the consequences of osteoporosis

• Diminshed quality of life due to pain and kyphosis
• Decreased independence  decreased ability to bathe, dress and ambulate independently
• Increased morbidity
• Increased mortality  related to hip fractures – 20% excess mortality in the year following hip fracture
• Approximately 50% not recover prior function
Discuss the management of osteoporosis

• Aim is to reduce fragility fractures
• Lifestyle modifications
o Improve calcium intake  1200-1500ml/day of milk
o Weight-bearing exercises
o Smoking cessation
o Reduction of alcohol consumption if excessive
• Exercises to promote bone density and reduce falls.
• Hip protectors although poor compliance
• Medication
o Vitamin D & calcium supplement
o Bisphosphonates  they incorporate into Ca2+ at the bone matrix, during resorption they enter the
clasts and induce apoptosis  they do not interfere with bone physicochemical properties
▪ Alendronic acid 70mg weekly
▪ Risedronate sodium
▪ Zolendronic acid IV
▪ Denosarmab S/C every 6months
o Selective oestrogen receptor modulators (SERMs)  Raloxefine
o Strontium
o HRT
o Testosterone treatment
o Parathyroid hormone
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SPECIALS LEARNING OBJECTIVES

DERMATOLOGY
GENERAL
To adopt a problem-orientated approach to understanding the diagnosis and management of skin diseases in the
hospital and community setting
To recognise the large social and economic burden of skin disease to the community
• Dermatology is important because
o Skin disease is common
o Huge psychological disability
o Occasionally life threatening
o The key to unlocking systemic disease
• Around 1 in 4 to 1 in 3 of the population suffer with a skin condition  top 4 conditions seen by GPs
To understand the concept of skin failure

• Acute skin failure is a state of total dysfunction of the skin resulting from different dermatological conditions
 it constitutes a dermatological emergency and requires a multi-disciplinary, intensive care approach
• Skin failure may occur when any inflammatory skin disease becomes so widespread that it prevents normal
functioning of the skin  its causes include
o Erythroderma
o Toxic epidermal necrolysis
o Severe erythema multiforme
o Pustular psoriasis
o Pemphigus
To comprehend the many links between dermatology and general medicine
To develop a framework for describing skin eruptions and lesions, and recording such clinical findings
• All will be covered in individual sections  but an overview
o Pigmented lesions  ABCDE
o Non-pigmented lesions  the 5 S’s
o Rashes  DCM
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EXAMINATION OF THE SKIN

Identify normal cutaneous changes
FUNCTIONS
• Protection from external damage  UV light, chemical, thermal and mechanical injury
• Resistant to sheer stress  thickened skin on the base of feet, etc
• Barrier  waterproof and barrier to bacteria  infection in the skin only if there is damage (eg. burns)
• Sensation  touch, pressure, pain and temperature  free nerve endings in the skin
• Metabolic  synthesizes vit D3  subcutaneous fat is a major energy store
STRUCTURE
• It has 3 layers  epidermis, dermis and
hypodermis/subcutis
• Epidermis  stratified squamous epithelium 
keratinized by keratinocytes  need it where you
need a protective layer (wear and tear)  bound by
desmosome cell junctions
• There is a basement membrane between epidermis
and dermis
• Dermis  dense irregular connective tissue 
fibroblasts, collagen I, elastin, blood, nerves and
receptors  divided into papillary (top) and
reticular (bottom) dermis  lose collagen and
elastin with age  most nerve endings are in the
papillary dermis
• Hypodermis  adipose tissue and main blood
supply
• Two types of downgrowths  hair follicle and sweat
gland  part of epithelium but rooted into dermis
• Erector pili muscle  stands hair on end
EPIDERMIS
• There are 5 layers in the epidermis:
o Stratum basale (bottom)  only layer to be dividing
o Stratum spinosum  there are lots of junctions between the cells  either by desmosomes or
hemidesmosomes
o Stratum granulosum  these cells contain lots of vesicles  produce keratin
o Stratum lucidum  quick clear  few cells with lots of keratin
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o Stratum corneum (top)  all the cells that slough off
• Barriers:
o Tight junctions  prevent paracellular diffusion
o Desmosomes and hemidesmosomes  mechicanical and sheer
o Keratin  microorganisms
o Phospholipid  waterproof
• The basal layers divide to give rise to the layers above  this is a continuous process  these become more
differentiated as they rise though the layers
• The intermediate layers produce keratin and eventually they lose their organelles (lucidum) and nucleus to
become flattened cells of the stratum corneum
• The basal layer is tethered to the dermis via hemidesmosomes
• The intermediate layers have many desmosomes
SKIN CELLS
• There are more than just keratinocytes in the epidermis  although keratinocytes make up 95% of cells
• Keratinocytes  stratified squamous keratinizing epithelial cells  produce keratin, which Is a structural
protein
• Melanocytes  pigment synthesizing cells responsible for skin and hair colour  they are neural crest
derived cells lying in the stratum basale  melanosomes in cytoplasm contain melanin and are passed to
keratinocytes, therefore scattering UV light
• Langerhans cell  all layer and upper dermis-prominent in spinosum  derived from the bone marrow 
dendritic, APC migrate to regional lymph nodes and communicate with the immune system
• Merkel cells  clear cells in stratum basale  plentiful in touch areas  connected to keratinocytes and
afferent nerves  neuroendocrine function
• Basement membrane  sheet of matrix (no cells) at interface of parenchyma and support tissue  it is
composed mainly of type IV collagen, glycoproteins (laminin and fibronection) and GAGs  it is involved in
adhesion, barriers and organisation of cells
Examine and describe a solitary skin lesion

• Remember to use the following scheme when describing a cutaneous eruption:
o Distribution where the lesions are located (e.g. extensor, flexor, symmetrical)?
o Configuration how the lesions are grouped together (e.g. herpetiform clusters)?
o Morphology what do the individual spots look like (e.g. macules, papules)?
GLOSSARY OF TERMS
• Abscess  a large collection of pus
• Blisters  can be bullae or vesicles
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o Unilocular  eg. friction blister
o Multilocular  eg. pompholytic eczema
• Bullae  a blister larger than 5mm
• Crust  a golden deposit on the skin surface due to dried plasma
• Cyst  a papule or nodule lined by epithelium containing fluid, pus or keratin  fluctuant
• Ecchymosis  large extravasation of blood into the skin (a bruise)
• Erosion  partial or complete loss of epidermis – heals without scarring
• Eruption  rash
• Erythematous  red
• Excoriations  an ulcer or erosion produced by scratching  term describes a process by which the break in
the skin has occurred
• Fissure  a thin crack or slit in the skin
• Lesion  any single small area of skin disease
• Lichenification  thickening of the skin due to chronic scratching/rubbing
• Macule  flat (non-palpable) area of colour change
• Nodule  a papule which has enlarged in length, width and depth to a diameter of greater than 0.5cm
• Papule  small palpable mass less than 0.5cm diameter  Macules are Marks, Papules are Pimples
o Sessile
o Flat-topped
o Warty
o Filiform
o Umbilicated
o Pedunculated
• Petechiae  pinhead sized macules of blood in the skin due to haemorrhage from small blood vessels (non-
blanching)
• Plaque  flat topped palpable lesion  any size and can be elevated
o Annular
o Polycyclic
• Pruritus  the sensation of itching
• Purpura  larger than petechiae: macules or papules of blood in the skin
• Pustule  a visible accumulation of pus  similar to a blister but filled with pus rather than clear fluid 
older pustules are green
• Scale  visible white loosening of the outermost skin layer
• Telangiectasia  visible dilatation of small cutaneous blood vessels  blanching
• Ulcer  term used to describe any skin break, but generally implies complete loss of epidermis with loss of at
least the upper part of the dermis  heals with scarring
o Erosion  skin break with epidermis only
o Ulcer  skin break with epidermis extending into the dermis
o Excoriations  erosion or ulcer caused by scratching
o Fissure  skin break and small slit
• Vesicle  a small (<5mm) papule filled with clear fluid  i.e. a small blister
• Wheal  smooth surfaced dermal swellings  dermal plaque or papule and due to dermal oedema so non-
scaly  puncturing will not cause leakage of fluid
Distinguish between dermal and epidermal changes
Examine and describe a cutaneous eruption using dermatological terms correctly
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Demonstrate the ability to take a history and to examine the skin of a patient in a sensitive and courteous manner
Recognise the psychological importance of skin disease to patients
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THE SKIN & SYSTEMIC DISEASE

Recognise and describe the cutaneous manifestations of diabetes, thyroid disease and systemic lupus erythematosus
DIABETES MELLITUS
• There are many cutaneous findings associated with diabetes including:
o necrobiosis lipoidica  usually affecting pretibial skin
o rubeosis  chronic flushed face)
o diabetic dermopathy  atrophic hyperpigmented lesions on lower legs  an under-diagnosed entity
probably present to some degree in 50% diabetics  male > female
o generalised granuloma annulare
o vitiligo
o acanthosis nigricans
o lipodystrophy
o vascular changes
o xanthomata  eruptive in uncontrolled diabetes
o yellow skin  increased serum carotene
o dry and wet gangrene
o candidiasis
o necrotising fasciitis
o foot ulcers
• Diabetes also increases susceptibility to infections, including tinea and bacterial infection 
e.g. Staphylococcus aureus
Granuloma annulare
• The cause of granuloma annulare is not known  dermatologists still debate whether or not there is a
genuine association with diabetes  if it exists at all, the association applies only to a few adults with
extensive lesions
• Children with standard lesions on the hands may need a single urine check for sugar  but no more elaborate
tests
• Common condition that mainly affects children & young adults and is often asymptomatic
• Clinically, the lesions of granuloma annulare often lie over the knuckles and are composed of dermal nodules
fused into a rough ring shape  small grouped papules assuming an annular configuration
• Mostly seen on hands and feet  on the hands the lesions are skin-coloured or slightly pink  elsewhere a
purple colour may be seen.
• Although a biopsy is seldom necessary, the histology shows a diagnostic palisading granuloma, like that of
necrobiosis lipoidica  lesions tend to go away over
Necrobiosis lipoidica
• Less than 1% of diabetics have necrobiosis  but most patients with necrobiosis will have diabetes  the
remaining few should have a glucose tolerance test followed by regular urine tests as some will become
diabetic later
• The lesions appear as one or more discoloured areas on the fronts of the shins  they are shiny, atrophic and
brown-red papules(initially) or slightly yellow plaques (later)
• The underlying blood vessels are easily seen through the atrophic skin (telangesctasia) and the margin may be
erythematous or violet
• Minor knocks can lead to slow-healing ulcers  biopsy can do the same
• The onset is usually in young adults and females are three times more commonly affected
• No treatment is reliably helpful
Diabetic Ulcer
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• Ulceration in diabetics is often multifactorial  as macrovascular disease can lead to arterial compromise and
microvascular disease to neuropathy  increased susceptibility to infection can further complicate the
picture
THYROID DISEASE
Pretibial myxedema
• Associated with hyperthyroidism  Graves’ disease
• Pink or flesh-coloured mucinous plaques are seen on the lower shins  together with marked exophthalmos,
in some patients with hyperthyroidism
• They may also occur after the thyroid abnormality has been treated
• Due to mucin deposition  leads to waxy indurated nodules or plaques on the lower legs
• Can be painful or pruritic
SYSTEMIC LUPUS ERYTHEMATOSUS

• There are several variants of cutaneous lupus  divided by location and depth of inflammatory infiltrate
o Acute  associated with systemic disease
o Sub-acute
o Chronic
• Acute cutaneous lupus  “butterfly” malar rash  transient and is often on sun exposure sites  it is non-
scarring and associated with non-ds DNA
Recognise and describe the cutaneous manifestations of internal cancers, e.g. acanthosis nigricans, acquired ichthyosis,
pyoderma gangrenosum and dermatomyositis
• Where the skin is linked to Where the skin is linked to internal problems there are four important
mechanisms:
1. The skin and internal organs are targets of the same disease process
2. The internal disease causes a recognised skin manifestation.
3. The skin condition prompts consideration of an underlying disease
4. The skin disease is of sufficient severity to cause systemic problems
ACANTHOSIS NIGRICANS
• Acanthosis nigricans is a velvety thickened hyperpigmented, papillomatous, "dirty"-looking skin  affecting
the major flexures  axilla, groin and neck often with multiple skin tags
• This is common and usually benign when it is associated with insulin resistance and the metabolic syndrome
 obesity, type II diabetes or other endocrinopathies, whether congenital or acquired
• An associated malignancy is suspected if the onset is abrupt and findings are severe  especially if mucous
membranes or palmar skin is involved (tripe palms)  usually GI especially gastric carcinoma
• A genuine association with internal malignancy can be difficult to prove but ideally, the following five criteria
should be met:
1. concurrent onset
2. parallel course
3. specific type or site of malignancy
4. statistical evidence of higher frequency in association with the malignancy than in age and sex-matched
controls in the general population
5. genetic link between a syndrome with skin manifestations and internal malignancy
ACQUIRED ICHTHYOSIS
• Acquired ichthyosis  may result from a number of underlying diseases  but it is always important to
exclude malignancy  especially lymphomas (Hodgkin’s)
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PYODERMA GANGRENOSUM
• This is an ulcerative skin disease of unknown aetiology considered to be a skin reaction pattern  the onset is
acute with a painful pustule or nodule arising after minor trauma  including surgery, or spontaneously
• The lesions are painful  may enlarge rapidly and typically have a violaceous, undermined, purple border
with a necrotic centre  it may run a chronic course and be severely debilitating  commonest sites are legs,
buttocks, abdomen and face
• There is an underlying systemic disease in up to 50% of patients  especially ulcerative colitis  other
associations include
o Inflammatory arthritis
o Crohn's disease
o Diverticulitis
o Chronic active hepatitis
o Behcet's disease
• A group of patients (>10%) have an underlying malignacy which is usually haematological in origin 
leukaemia, paraproteinaemia and myeloma
• Pyodermia gangrenosum is essentially a clinical diagnosis  the differential diagnosis includes infection and
other causes of ulceration particularly when located on the leg
• Laboratory markers are not very helpful for diagnosis though should be checked to screen for underlying
associations  histology is not always diagnostic, but is helpful in some cases
• Management involves investigation and treatment of underlying disease  topical and oral steroids may be
effective as may ciclosporin  but recurrence on stopping treatment is quite common especially if an
underlying systemic cause persists
DERMATOMYOSTITIS
• Dermatomyositis is a subset of polymyositis with distinctive skin changes  there are adult and juvenile types
• The cause is unknown but an autoimmune mechanism seems likely  autoantibodies to striated muscle are
often found
• When starting after the age of 40, dermatomyositis may signal an internal malignancy  presumably, the
epitopes of some tumour antigens are so similar to those of muscle antigens that antibodies directed against
the tumour cross-react with muscle cells and initiate the disease in a few adults with internal malignancy.
• The skin signs are characteristic  typical patients have a faint lilac discoloration around their eyes 
sometimes called ‘heliotrope’ because of the colour of the flower  this is associated with malar erythema
and oedema and, sometimes, less striking erythema of the neck and presternal area
• Most patients also develop lilac slightly atrophic papules over the knuckles of their fingers (Gottron’s papules),
streaks of erythema over the extensor tendons of the hand, periungual telangiectasia and ragged cuticles
• The skin signs usually appear at the same time as the muscle symptoms  but, occasionally, appear months
or even years earlier  sometimes, the skin signs appear in isolation
• Many, but not all, patients have weakness of proximal muscles  climbing stairs, getting up from chairs and
combing the hair become difficult
• In children the disorder is often self-limiting  but in adults it may be prolonged and progressive 
Raynaud’s phenomenon, arthralgia, dysphagia and calcinosis may follow
• The rash may become scaly and, rarely, itchy  eventually that on the light-exposed areas and overlying
involved muscles develops poikiloderma  features of mixed connective disease may develop  the
presence of calcinosis suggests a good prognosis
• Myositis may lead to permanent weakness and immobility  and inflammation to contractures or cutaneous
calcinosis  some die from progressive and severe myopathy.
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• Other connective tissue disorders may look similar  particularly mixed connective tissue diseaseand SLE 
in SLE, the finger lesions favour the skin between the knuckles whereas in dermatomyositis the knuckles are
preferred  toxoplasmosis may cause a dermatomyositis-like syndrome  myopathy can be a side-effect of
systemic steroids, so weakness is not always caused by the disease itself
• About 30% of adults with dermatomyositis also have an underlying malignancy  their dermatomyositis
coincides with the onset of the tumour and may improve if it is removed  adult dermatomyositis or
polymyositis therefore requires a search for such an underlying malignancy
• The levels of muscle enzymes such as aldolase and creatinine phosphokinase (CPK) are often elevated 
electromyography (EMG) detects muscle abnormalities, and biopsy of an affected muscle shows inflammation
and destruction  surprisingly, the ESR is often normal and antinuclear antibodies may not be detected 
toxoplasmosis should be excluded by serology.
• Systemic steroids, often in high doses are the cornerstone of treatment and protect the muscles from
destruction  a maintenance regimen may be needed for several years
• Immunosuppressive agents (azathioprine) also help to control the condition and to reduce the high steroid
dose  Cyclosporin and methotrexate have proved useful alternatives in stubborn cases
• Maintenance treatment is adjusted according to clinical response and CPK level.
• As in SLE, intravenous gamma globulin infusions seem promising
• Long-term and regular follow-up is necessary.
DERMATITIS HERPETIFORMIS
• Dermatitis herpetiformis is a chronic, recurrent, intensely pruritic eruption occuring symmetrically on the
extensor surfaces of the extremities and trunk
• Any age can be affected
• Typically groups of vesicles are seen but these are usually excoriated
• The diagnosis is confirmed with a skin biopsy with immunofluorescence  jejunal biopsy reveals abnormal
mucosa in the majority of patients
• There may be associated weight loss or anaemia due to gluten-sensitive enteropathy
• Dapsone is the treatment of choice andis highly effective  symptoms resolve in days  rare early adverse
reactions with dapsone are haemolysis and agranulocytosis
• The condition improves slowly with a gluten-free diet which is recommended to continue life-long.
GENERALISED PRURITIS
• Itch is the commonest symptom of skin disease but in some cases there is no evidence of a primary skin
disease  the skin may be normal, sometimes dry, or show other non-specific changes secondary to
scratching  such as excoriations or in severe chronic cases, erosions, crusts, nodules or scars
• In some cases, it is difficult to be sure whether skin changes are primary (i.e. a defined skin disease) or
secondary (from scratching)
• If the itch is widespread with no apparent cause it is known as generalised pruritus  however, this is a
diagnosis of exclusion and such patients need a general work-up.
• Differential diagnosis of systemic causes of pruritus:
o Metabolic/endocrine  hyper- and hypothyroidism, chronic renal failure, carcinoid
o Malignancy  lymphoma, leukaemia, myeloma, solid cancer (rare)
o Drugs  aspirin, alcohol, morphine, codeine
o Haematological disease  polycythaemia rubra vera, iron deficiency
o Hepatic disease  obstructive biliary disease, cholestasis of pregnancy
o Pregnancy  without cholestasis
o Xerosis  dry skin alone is sometimes responsible for pruritus
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• Approach to patients with widespread pruritus:
o Detailed history including systems review
o Examine all skin and mucosa
o General examination including lymph nodes
o Check for dermographism
o Consider rectal exam + FOB
• Lab tests (pruritus screen):
o Urinanalysis o TFTs
o FBC o Ferritin/serum iron
o ESR o Immunoglobulins/plasma
o U+Es electrophoresis
o LFTs o Hepatitis B+C serology
• In severe cases, or those that do not respond to symptomatic Rx with emollients/soap substitute, oral
antihistamines like cetirizine or hydroxyzine consider:
o CXR o Fasting blood glucose
o Stool culture (hookworm) o Referral for pelvic exam and smear
OTHER CONDITIONS
• Erythema gyratumrepens is a shifting pattern of waves of erythema covering the skin surface and looking like
the grain on wood
• Acquired hypertrichosis lanuginosa (‘malignant down’) is an excessive and widespread growth of fine lanugo
hair
• Necrolytic migratory erythema is a figurate erythema with a moving crusted edge  when present, usually
with anaemia, stomatitis, weight loss and diabetes, it signals the presence of a glucagon-secreting tumour of
the pancreas
• Bazex syndrome is a papulosquamous eruption of the fingers and toes, ears and nose, seen with some
tumours of the upper respiratory tract
• Superficial thrombophlebitis  the migratory type has traditionally been associated with carcinomas of the
pancreas
• Acute febrile neutrophilic dermatosis  the classic triad found in association with the red oedematous
plaques consists of fever, a raised erythrocyte sedimentation rate (ESR) and a raised blood neutrophil count
 the most important internal association is with myeloproliferative disorders
• Pachydermoperiostosis is a coarsening and thickening of the skin seen in association with severe clubbing 
it can be inherited as an autosomal dominant trait, or be a result of the standard causes of clubbing which
include conditions such as bronchial carcinoma
Be able to diagnose erythema nodosum and suggest a list of possible triggers

• Erythema nodosum is an immunological/ inflammatory reaction pattern of the subcutaneous fat 
characterised by the appearance of tender, erythematous, bruise-like nodules usually on the lower legs
• Associated symptoms
o Fever
o Malaise
o Arthralgia
• Younger adults aged 15-30 years tend to be affected  it occurs in females three times more often than
males
• The cause is often idiopathic  but underlying "triggers" to consider include:
o Infection  such as streptococcal, primary TB
o Drugs  such as sulphonamides, oral contraceptives
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o Systemic disease  such as sarcoid, Behcet's disease and inflammatory bowel disease
• Investigations
o Chest x-ray
o Throat swab
o ASO titre
o ESR & WCC may be raised
• Treatment
o Rest
o NSAIDs
o Prednisolone for refractory cases
• The condition usually resolves spontaneously over about 6 weeks  an underlying chronic trigger  such as
sarcoidosis makes this less likely
Recognise and describe cutaneous vasculitis, suggest a list of possible triggers and specify the appropriate investigations
• Whereas the reactive erythemas are associated with some inflammation around superficial or deep blood
vessels  the term vasculitis is reserved for those showing inflammation within the vessel wall, with
endothelial cell swelling, necrosis or fibrinoid change
• The clinical manifestations depend upon the size of the blood vessel affected
CUTANEOUS SMALL VESSEL VASCULITIS

• Most common type of vasculitis 
• Palpable purpura  <1cm
• Found mainly on ankles/lower leg or dependent area
• Leucocytoclastic vasculitis
• Systemic symptoms are uncommon  raise suspicion of systemic vasculitis
• Causes
o Infection o Connective tissue disease
o Recent drugs o Neoplasms
• Henoch Schonlein purpura type of small vessel vasculitis
o Associated with respiratory infections
o Forms purpuric lesions on limbs & buttocks
o Common in children
o Systemic symptoms  arthralgia, arthritis, haematuria & abdominal pain
o Diagnosis is via immunofluorescents, which isolates IgA immune deposits  leads to an increased risk
of renal failure & nephrotic syndrome
POLYARTERITIS NODOSA
• Necrotizing vasculitis of large arteries  causes skin nodules, infarctive ulcers and peripheral gangrene.
• Immune complexes may initiate this vasculitis  sometimes contain hepatitis B or C virus or antigen  other
known causes are adulterated drugs, B-cell lymphomas and immunotherapy
• Present with tender subcutaneous nodules appear along the line of arteries  ulcerations or stellate patches
of purpura/necrosis of covering skin  splinter haemorrhages and a peculiar net-like vascular pat-tern (livedo
reticularis) aid the clinical diagnosis
• The disorder may be of the skin only (cutaneous polyarteritis nodosa), or also affect the kidneys, heart
muscle, nerves and joints  patients may be febrile, lose weight and feel pain in the muscles, joints or
abdomen  some develop peripheral neuropathy, hypertension and ischaemic heart disease  renal
involvement, with or without hypertension, is common.
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• Untreated, systemic polyarteritis nodosa becomes chronic  death, often from renal disease, is common,
even in treated patients
• Affected vessels show aneurysmal dilatation or necrosis, fibrinoid changes in their walls, and an intense
neutrophilic infiltrate around and even in the vessel wall in histology
• Systemic steroids and cyclophosphamide improve chances of survival  low-dose systemic steroids alone are
usually sufficient for the purely cutaneous form
WEGENER’S GRANULOMATOSIS
• Granulomatous vasculitis of unknown cause  fever, weight loss and fatigue accompany nasorespirat-ory
symptoms  such as rhinitis, hearing loss or sinusitis
• Only half of the patients have skin lesions  usually symmetrical ulcers or papules on the extremities
• Other organs can be affected  including the eye, joints, heart, nerves, lung and kidney
• Anti-neutrophil antibodies are present in most cases and are a useful but non-specific diagnostic marker
• Cyclophosphamide is the treatment of choice  used alone or with systemic steroids.
Recognise and describe skin eruptions which may be caused by drugs such as urticaria, erythema multiforme, Stevens-
Johnson syndrome and toxic epidermal necrolysis
MECHANISM OF DRUG ERUPTIONS
• Non allergic
o Intrinsic action of drug on the skin due to pharmacological properties, therefore predictable, and dose
related  eg. stretch marks from systemic steroids, cracked lips from retinoids, photosensitivity from
tetracyclines, candidiasis from antibiotics, infections from immunosuppressants, discolouration from
amiodarone
o Exacerbation of pre existing skin disease  eg. lithium and psoriasis
o Idiosyncratic  eg. fixed drug eruption from phenolphthalein
• Allergic reactions
o These are unpredictable and occur in a minority of patients they occur after a latent period or on
2nd exposure to a drug. Internal organs may be involved and they can be life threatening  there are
no tests, other than readministering the drug, which can be dangerous
o Allergic reactions may be  IgE mediated, cytotoxic, immune complex mediated, or cell mediated
o The commonest form is a morbilliform rash with a central distribution affecting mainly the trunk and
thighs  antibiotics, sulphonamides
• Other non specific eruptions include:
o Urticaria and angioedema  salicylates, ACE inhibitors
o Vasculitis  sulphonamides, indomethacin
o Erythema multiforme  sulphonamides, barbiturates
• Most serious form is toxic epidermal necrolysis  barbiturates, anticonvulsants, antibiotics
• Drugs which commonly cause rashes
o Penicillins/ sulphonamides
o Anticonvulsants
o NSAIDS
o Thiazide diuretics
o Allopurinol
o Gold and penicillamine
• Treatment of drug rashes
o Stop drug
o Consider measures to reduce drug in system
o Symptomatic
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o Oral steroids controversial
o Avoid drug in future
o Label medical records
• Conclusion
o The skin can provide vital clues about general medical conditions
o Always consider the whole patient, not just the skin  always examine the skin of any sick patient
with an unexplained illness
o Remember drugs as a common cause of skin rashes
TOXIC ERYTHEMA
• Most common drug related rash  morbiliform (measles-like)
• It is composed of erythematous macules  which begins on the trunk and convalesces
• Most often occurs 7-14 days after introduction of the drug
• Symptoms are pruritus, malaise and fever are common
ERYTHEMA MULTIFORME
• Erythema multiforme is a reaction pattern of blood vessels in the skin with secondary epidermal changes 
which classically are red and like a bull's eye  hence the term 'target lesions'
• They can be macular  but are often elevated with vesicle or bulla formation centrally
• The extremities are typically affected and mucous membranes are also often involved
• The age of onset is under 20 years in 50% of patients  the commonest underlying cause is infection, usually
Herpes simplex
• Several drugs may also cause EM notably
o Penicillin
o Sulphonamides
o Phenytoin
o Allopurinol.
• Lesions evolve over about 10 days and are often symmetrical affecting extensor skin mostly  there may be
pruritus and discomfort  there may be fever, weakness and malaise
• The differential diagnosis includes
o Non-EM drug eruption
o Aecondary syphilis
o Urticarial
• True target lesions of EM have at least three colours within them  whereas annular weals in urticaria only
have two  individual urticarial weals usually resolve within 24 hours and this is not the case for EM
STEVENS-JOHNSON SYNDROME
• Severe drug eruptions  associated with prodrome of upper respiratory tract infection and fever
• Presents with symmetrical red macules with central blistering  characteristic feature is epidermal necrosis
• Oral mucosa is always involved  with involvement of at least 2 other mucosal sites  often eyes are
severely involved
• Can last for up to 3 weeks
• Causes
o Infection  mycoplasma & herpes simplex
o Idiopathic
o Drugs
▪ NSAIDs
▪ Sulphonamides
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▪ Penicillin
▪ Anti-convulsants
▪ Allopurinol
TOXIC EPIDERMAL NECROLYSIS

• Rare and potentially fatal adverse drug reactions  35% mortality  most commonly associated with
o NSAIDs
o Antibiotics
o Anti-epileptics
• Rash begins 7-21 days after starting a drug  presents with widespread dusky erythema with marked
tenderness
• Extensional mucosal involvement  with rapid progression of epidermal detachment
• Most important factor in reducing mortality is early identification of causative drugs  all drugs must be
stopped
MANAGEMENT
• Early diagnosis  withdrawal of offending drug
• Supportive care  burns unit or ICU
• Careful wound care  hydration & nutritional support
Know the appropriate supportive care for patients with skin failure
• Covered in an earlier learning objective
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BENIGN & MALIGNANT MELANOCYTIC LESIONS

Know the different types of benign melanocytic naevi
• Congenital naevi  lesions present at birth  uncommon and occurs in 1% of newborns
o Rare giant ‘bathing trunk’ naevi  high risk of malignant
o Mongolian blue spot  due to melanocytes in dermis  common in Asian & benign
• Acquired naevi  usually appears around adolescence  naevus changes with age  it usually starts as
junctional, turning into compound and eventually intradermal  these terms refer to the migration of
naevoid cells from the junction of the epidermis to entirely within the dermis
o Junctional naevi  macular and dark
o Intradermal naevi  raised and skin colour
o Compound  ‘warty’  melanocytes in epidermis and dermis
o Halo naevus  undergoing regression  benign
o Blue naevus  melanocytes in dermis  often on the extremities and usually benign
• Atypical naevi  can be asymmetrical and differently pigmented  thought to be familial or with significant
sun exposure in childhood  prevalence 2-5%  have a higher risk of melanoma especially is >50yrs or with
family history
List the risk factors for the development of malignant melanoma

• Melanoma is the malignant proliferation of pigment producing melanocytes of the skin  it can be found on
the skin and mucosa surfaces
• The incidence in the U.K. is estimated at 7.8 per 100000 per year for men and 12.3 per 100000 per year for
woman
RISK FACTORS
• Fair skin  especially skin type I and II on the Fitzpatrick system
• Excessivs sun exposure in childhood  especially if this is associated with multiple episodes of sun burns 
fair skin individuals living in sunny countries are most at risk
• Family history
• Patients who are immunosuppressed
• Patients with multiple atypical moles  especially when there is a family history of melanoma
• History of >3 blistering sunburns under 20yrs old
• Previous PUVA therapy, immunosuppression or dysplastic naevi
• Large number of atypical or dysplastic naevi or large congenital naevi
PROGNOSTIC FACTORS
• The most important prognostic factor to determine survival in patients who had melanoma is tumour
thickness  Breslow's thickness  histological distance from deepest melanoma cells to SG of epidermis 
risk of metastasis is low (<0.76mm) or high (>1.5mm)
• This is measured from the top of the granular cell layer of the epidermis to the deepest point of tumour
invasion
• Other important features associated with poor prognosis
o Lesions on head & neck,
o Being male
o Older age group
o Ulceration
Recognise and describe the features of a typical melanoma (using the ABCD rule)
• ABCDE Rule
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o Asymmetry  symmetrical or asymmetrical
o Borders  regular or irregular
o Colour  uniform or non-uniform
o Diameter
o Elevation or evolution
• Sinister features  50% of melanomas arise from naevi
o Changes in size
o Irregular shape
o Irregular colour
o Greater than 1cm diameter
o Itch
o Bleeding or ulceration
Be familiar with the different sub-types of melanoma

• Melanomas begin in the basal cell layer of the epidermis  the home of the normal pigment producing
melanocytes. In time, these cells may cross the basement membrane and invade the dermis as nests and
sheets
• In situ melanoma  all malignant cells are confined to the epidermis  eg. lentigo malignaN
SUPERFICIAL SPREADING MELANOMA (SSM)

• 70% of melanomas are SSM
• Superficial spreading melanoma  usually occurs on the legs of women and trunk of men
• These tumours tend to grow horizontally within the superficial layer of the skin  the horizontal growth
phase
• After a variable period, SSMs can start to grow vertically  the vertical growth phase
LENTIGO MALIGNA MELANOMA (LMM)

• These tumour usually occur in sun exposed sites of elderly patients who have other signs of sun damaged 
eg. face
• They usually arise from long standing lesions  called lentigo malignas
ACRAL LENTIGINOUS
• As the name implies, these occurs in the extremities  including palms or soles
• This is the most common type of melanoma in non-Caucasians  eg. Asian or Afro-Caribbean
• They do not appear to be related to sun exposure  but incidence greatly increases past 20 years
NODULAR MELANOMA
• The tumour cells are entirely in vertical growth phase
• They tend to be round, uniformly black, dome-shaped with a well demarcated border
• Ulceration sometimes occurs
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Know the differential diagnosis of benign and malignant pigmented lesions
• Seborrhoeic wart  warty, matte surface with a stuck on appearance

• Pigmented BCC  pearly edges
• Dermatofibroma  found on arms & legs  related to persistent insect bite reactions
• Pyogenic granuloma  fryable bleeding lesion  common in young people and pregnant lesions
• Atypical mole  look at rest of patients skin to determine if other moles present that look similar
• Blue naevus
Be able to discuss prognosis and management of pigmented lesions with patients

• 5 year survival using Breslow thickness
o in situ  100%
o <1mm  95%
o 1-3mm  70%
o >3mm  <40%
MANAGEMENT
• Wide local excision  using 1-2cm peripheral margin
• Lymph node clearance for regional metastasis
• No specific treatment for distant metastasis
Be able to give appropriate sun protection advice

• Use a high factor SPF suncream  SPF only protects against UV B
• Star rating determines protection against UV A  which causes skin to age
• SPF factor determines how long you can stay out in the sun multiplied by how much they burn  eg factor 10
– x10 the length it would take to burn
• Avoid sun at midday  wear hat and covering clothes  seek shade if you can
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NON-MELANOMA SKIN CANCERS & BENIGN SKIN TUMOURS

Recognise and describe the clinical features of the pre-malignant lesions, actinic (solar) keratosis and intra-epithelial
carcinoma (Bowen’s disease)
ACTINIC KERATOSES
• Actinic keratosis is also known as solar keratoses  dysplastic keratotic lesions that affect around 1 in 5
people over 60 in the UK at any one time  small risk of progression to SCC
• Although they may progress to SCC  this risk is actually very small  <1:1,000 per year in an individual
lesion
• Lesions may be single or multiple and present as macules or patches of scaling and erythema on
predominantly sun-exposed skin  usually in middle-aged and elderly individuals
• They are often easier to feel than see  are often asymptomatic but may occasionally be sore or itch
• It is not always necessary to treat actinic keratosis  as lesions may resolve spontaneously  but the most
commonly used treatment modalities are listed
o Cryotherapy
o 5-FU cream  Efudix
o Curettage & cautery
o Photodynamic therapy
o Diclofenac gel  Solaraze
o Imiquimod
• Cryotherapy is useful for discrete lesions  whereas 5-FU cream, a cytotoxic agent if often used when the
problem is more diffuse
• It is important to warn patients about the inflammatory reaction that is often associated with this treatment
INTRAEPIDERMAL CARCINOMA
• The term intraepidermal carcinoma is used to describe dysplasia that extends the full thickness of the
epidermis  other names for this include Bowen’s disease and intraepithelial carcinoma and squamous cell
carcinoma in-situ
• This classically presents on the lower legs of elderly women  although can occur elsewhere  and as with
superficial BCC can mimic a patch of eczema or psoriasis
• The risk of malignant transformation in intraepidermal carcinoma is higher than actinic keratosis at around 3-
5%
• Treatment options
o 5-FU cream  Efudix
o Cryotherapy
o Curettage & cautery
o Excision
o Imiquimod
• A consideration when treating lesions on the lower leg is risk of ulceration  for this reason cryotherapy is
generally avoided in this area
• In those with high risk of leg ulceration  for example people with obvious signs of venous insufficiency 
photodynamic therapy activation of a photosensitizer by visible light can be a useful alternative to 5-FU cream
and destructive methods
Recognise and describe the clinical features of the malignant lesions, basal cell carcinoma (including the different
subtypes) and squamous cell carcinoma
BASAL CELL CARCINOMA
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• BCC is the commonest type of skin cancer  80% of all skin cancers
• Slow growing, usually asymptomatic  risk of metastasis is very low, but it can be locally invasive and cause
destruction of underlying tissues
• At time of presentation, the tumour has often been present for months or even years
• A variety of different subtypes exist  it is possible for a single tumour to be of mixed type
o Nodular
o Superficial
o Morpheic/sclerosing  resemble scar tissue
o Pigmented  difficult to distinguish from malignant melanoma
• Superficial BCCs commonly arise on the trunk and face  but can affect any part of the body  they may
easily be mistaken for a patch of eczema or psoriasis  and are also often indistinguishable from
intraepidermal carcinoma
• When assessing a BCC, it is important to consider whether a tumour is at high or low risk of recurrence  so
that the best effort can be made to cure the tumour at first attempt  as recurrent tumours can be difficult
to control
• Factors affecting risk of recurrence include
o Increasing tumour size
o Tumour site  lesions on the central face, especially around the eyes, nose, lips & ears are at a high
risk of recurrence
o Poorly defined margins
o Histological subtype  morphoeic
o Histological features of aggression  perineural and/or perivascular invasion
o Previous treatment failure  recurrent lesions are at higher risk of further recurrence
• Usually the aim of treatment is to eradicate the tumour in a manner likely to result in a cosmetic outcome
that will be acceptable to the patient  as well as taking into account other factors such as comorbidities
• Surgical excision is the most commonly used method of treatment  the BCC is excised with lateral excision
margins of at least 4mm, and usually at least as deep as subcutaneous fat  the defect is repaired, and the
histological specimen is sent for testing
• With the usual methods, it is worth remembering that only sections of the tumour margin are examined  so
even when a tumour is reported to be completely excised  there is a small chance that this is not the case
 nevertheless, the overall 5 year recurrence rate following this type of surgery is less than 2% and it is
therefore a highly effective treatment for primary BCC
• Mohs Micrographic surgery is a technique used for some high risk tumours  The bulk of the tumour is
removed with a curette, and then the affected area of skin is removed and the entire deep surface of that
layer of tissue is examined histologically  if there is residual tumour at the margin, further layers of tissue
are taken until the margin is free from tumour  this usually takes place in one day, and depending on the
size of the defect is also repaired that day by the dermatologist or in certain cases referred on to another
specialist such a plastic surgeon for reconstruction  this method gives 5 year cure rates of around 99% for
primary and 95% for recurrent BCCs
• Treatment options
o Surgical  histological margins examins  simple excision & Mohs’ micrographic surgery
o Surgical  histological margins not examined  curettage, cautery and cryotherapy  low risk
tumours
o Non-surgical
▪ Radiotherapy
▪ Imiquimod  Aldara
▪ Photodynamic therapy
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• Radiotherapy is effective, and can be used as the sole treatment or as adjuvant treatment in certain tumours
 however, the risk of radionecrosis along with the possible late complication of SCC at the site of treatment
limit its use
• Imiqimod is a topical immune-response modulator and this, or photodynamic therapy may be used for low
risk tumours  for both of these treatments, the recurrence rates are higher than with surgical excision, but
the cosmetic results are good
• When considering any of the treatment modalities that do not involve histological examination  it is usual
to confirm the diagnosis of BCC with a biopsy before starting treatment
SQUAMOUS CELL CARCINOMA

• SCC accounts for 20% of all skin cancer and so is less common than BCC  but carries a higher risk of
metastasis, initially regional lymph nodes
• Overall 5 year survival is 75-90%  overall risk for metastatic disease is 25%
• Factors increasing metastatic potential
o Site  ear or lip
o Size  >2cm
o Depth  thicker > thinner
o Aetiology  non-sun exposed sites or areas of chronic inflammation
o Differentiation  poorly > moderately > well
o Immunosuppression
o Mucosal SCC > cutaneous SCC
o Perineural invasion
• Clinically, SCC may present as a  tend to grow more rapidly than BCCs  eg. weeks
o Firm skin coloured nodule  often with a keratinized surface or keratin plug
o A soft fleshy nodule  with an eroded surface
o As a non-healing wound
• Surgical excision is generally the treatment of choice, and Mohs’ Micrographic surgery is occasionally used 
radiotherapy is another treatment option, but the same limitations apply as with BCC
Recognise and describe the clinical features of the following benign lesions: dermatofibroma, neurofibroma, epidermoid
and pilar cysts, keratoacanthoma, haemangioma (strawberry naevus, cherry angioma, pyogenic granuloma), seborrhoeic
keratosis, viral wart
DERMATOFIBROMA
• These benign tumours are firm discrete usually solitary dermal nodules  often on the extremities of young
adults
• The lesions have an ‘iceberg’ effect in that they feel larger than they look  the overlying epidermis is often
lightly pigmented and dimples when the nodule is squeezed  some lesions seem to follow minor trauma or
an insect bite
• Histologically, the proliferating fibroblasts merge into the sparsely cellular dermis at the margins
• A straightforward lesion may be left alone  but if there is any diagnostic doubt, it should be excised
NEUROFIBROMA
• A neurofibroma is a benign nerve sheath tumor in the peripheral nervous system  in 90% of cases they are
found as stand-alone tumors  while the remainder are found in persons with neurofibromatosis type I (NF1)
• NF 1 is an autosomal dominant genetically inherited disease  they can result in a range of symptoms from
physical disfiguration and pain to cognitive disability.
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• Von Recklinghausen’s neurofibromatosis (NF1)  nearly all NF1 patients meet the criteria for diagnosis by the
age of 8 years  and all do so by 20 years  the usual order of appearance of the clinical features is café au
lait macules, axillary freckling, Lisch nodules and neurofibromas
EPIDERMOID & PILAR CYSTS

• Often incorrectly called ‘sebaceous cysts’  these are common and can occur on the scalp, face, behind the
ears and on the trunk
• They often have a central punctum  when they rupture, or are squeezed, foul- smelling cheesy material
comes out
• Histologically, the lining of a cyst resembles normal epidermis (an epidermoid cyst) or the outer root sheath of
the hair follicle (a pilar cyst)  occasionally an adjacent foreign body reaction is noted
• Treatment is by excision, or by incision followed by expression of the contents and removal of the cyst wall
KERATOACANTHOMA
• They occur mainly on the exposed skin of fair individuals  more than two-thirds are on the face and most of
the rest are on the arms
• The lesion starts as a pink papule that rapidly enlarges  it may reach a diameter of 1cm in a month or two
• After 5 or 6 weeks the centre of the nodule forms either a keratinous plug or a crater  if left, the lesion
often resolves spontaneously over 6–12 months but leaves an ugly depressed scar
• Squamous cell carcinoma is the main tumour to be distinguished from a keratoacanthoma  hwever,
carcinomas grow more slowly and usually lack symmetry
STRAWBERRY NAEVUS
• Haemangiomas (strawberry naevi) appear within a few weeks of birth  grow for a few months, forming a
raised compressible swelling with a bright red surface
• Spontaneous regression then follows  the surface whitens centrally and regression is complete by the age
of 5 years in 50% of children and in 90% by the age of 9  leaving only an area of slight atrophy
• Bleeding may follow trauma, and ulceration is common in the napkin (diaper) area
• Observation and encouragement is the management of choice for the great majority  serial photographs of
the way they clear up in other children help parents to accept this  firm pressure may be needed to stop
bleeding
• If lesions interfere with feeding, or with vision, or if giant lesions sequestrate platelets (the Kasabach–Merritt
syndrome)  high doses of systemic steroids should be considered  they are most successful in the
proliferative phase
• Rarely, plastic surgery is necessary for a few large and unsightly haemangiomas that fail to improve
spontaneously or to regress with the above measures
CHERRY ANGIOMA
• These benign angiomas are common on the trunks of the middle-aged and elderly  they are small bright red
papules and of no consequence
PYOGENIC GRANULOMA
• These badly named lesions are in fact common benign acquired haemangiomas  often seen in children and
young adults
• They develop at sites of trauma  over the course of a few weeks  as bright red raised, sometimes
pedunculated and raspberry-like lesions which bleed easily
• The important differential diagnosis is from an amelanotic malignant melanoma  for this reason, the
histology should always be checked  a pyogenic granuloma shows leashes of vessels of varying calibre
covered by a thin, often ulcerated, epidermis
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• Lesions should be removed by curettage under local anaesthetic with cautery to the base  rarely, this is
followed by recurrence or an eruption of satellite lesions around the original site
SEBORRHOEIC KERATOSIS
• This is a common benign epidermal tumour  unrelated to sebaceous glands
• Seborrhoeic keratoses usually arise after the age of 50 years  but flat inconspicuous lesions are often visible
earlier  they are often multiple, but may be single
• Lesions are most common on the face and trunk  and the sexes are equally affected  lesions may multiply
with age, but remain benign
• Physical signs
o A distinctive ‘stuck-on’ appearance
o May be flat, raised or pedunculated
o Colour varies from yellow to dark brown
o Surface may have greasy scaling and scattered keratin plugs
VIRAL WART
• Most people will have a wart at some time in their lives  their prevalence is highest in childhood, and they
affect an estimated 4 –5% of schoolchildren in the UK
• Warts are caused by the human papilloma virus (HPV)  more than 70 ‘types’ of the virus have been
recognized by DNA sequencing  each has its own range of clinical manifestations
o HPV-1, 2 & 4  found in common warts
o HPV-3  found in plane warts
o HPV-6, 11, 16 & 18  most common in genital warts
• Warts adopt a variety of patterns
o Common warts  the first sign is a smooth skin-coloured papule, often more easily felt than seen 
as the lesion enlarges, its irregular hyperkeratotic surface gives it the classic ‘warty’ appearance 
usually occur on the hands but are also often on the face and genitals  they are more often multiple
than single  pain is rare
o Plantar warts  hese have a rough surface, which protrudes only slightly from the skin and is
surrounded by a horny collar  bleeding capillary loops allows plantar warts to be distinguished from
corns  often multiple, plantar warts can be painful
o Mosaic warts  these rough marginated plaques are made up of many small tightly packed but
discrete individual warts  they are most common on the soles but are also seen on palms and
around fingernails  usually they are not painful.
o Plane warts  these smooth flat-topped papules are most common on the face and brow, and on the
backs of the hands  usually skin-coloured or light brown  they become inflamed as a result of an
immunological reaction, just before they resolve spontaneously  lesions are multiple, painless and,
like common warts, are sometimes arranged along a scratch line
o Facial warts  these are most common in the beard area of adult males and are spread by shaving 
a digitate appearance is common  lesions are often ugly but are painless.
o Anogenital warts (condyloma acuminata)  papillomatous cauliflower-like lesions, with a moist
macerated vascular surface, can appear anywhere in this area  they may coalesce to form huge
lesions causing discomfort and irritation  the vaginal and anorectal mucosae may be affected the
presence of anogenital warts in children raises the spectre of sexual abuse, but is usually caused by
autoinoculation from common warts elsewhere
KERATOACANTHOMA
• Keratoacanthoma  clinically indistinguishable from SCC, but is actually benign
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• Typically, it is an isolated dome shaped nodule with a central keratin plug  often on the face  that
undergoes a rapid growth phase over a period of a few weeks  the growth then halts and the lesion
resolves spontaneously
• As it is often impossible to distinguish from SCC  these lesions are usually excised  unless the patient
presents during the resolution phase  in these cases the lesion is monitored closely until it resolves.
CUTANEOUS HORN
• It is worth being aware of a lesion referred to as a cutaneous horn  which often arises on the face and is
comprised of compacted keratin
• This always warrants histological examination  may have AK/IEC/SCC at the base  or can be benign – eg.
seborrheic keratosis
• Lesion is mostly excised with histology examination
Demonstrate a knowledge of the risk factors for skin cancer

• A combination of genetic and environmental factors contribute to the development of NMSC  with
excessive UV light exposure being the most important environmental factor  and fair skinned individuals
being the most susceptible
• Immunosuppression  whether iatrogenic as in transplant patients, or caused by other factors such as HIV 
can increase the risk of NMSC, as well as leading to development of more aggressive tumours.
• Rare inherited syndromes can lead to development of skin cancer at a young age
• Skin cancers can develop in sites of chronic inflammation, scars or wounds  for example in a chronic leg
ulcer, and also at sites of HPV infection
• Overview of risk factors
o Long-term UV exposure  sun exposure or sunbeds/phototherapy
o Fair skin type
o Increasing age
o Immunosuppression
o Genetic  eg. Gorlin’s syndrome (BCCs) or xeroderma pigmentosum
o Sites of chronic inflammation, wounds, scars
o Human papillomacirus (SCC)
Discuss the different treatment modalities available for the management of pre-malignant and malignant skin cancers
• Different treatment modalities  all covered in other learning objectives
o 5-fluorouracil
o Cryotherapy
o Curettage and cautery
o Surgical excision
o Radiotherapy
Be able to plan appropriate treatment for patients with the above condition
ACTINIC KERATOSES
• Practically, it is impossible to treat all AK. Approx. 25% of AK may spontaneously disappear.
• Cryotherapy  liquid nitrogen destruction of AK is cheap, quick and easily performed  CR – 95-100%.
• 5-Fluorouracil (5-FU)  safe and highly effective treatment for AK. 5-FU spares normal skin but can “light-up”
clinically inapparent or early AK  however, treatment can be long and produce inflammation at the site of
the AK resulting in prolonged erythema and unsightly and sore erosions
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• Curettage and cautery  this technique is an excellent way to treat AK. It offers high cure rates with excellent
cosmesis
• Surgical Excision  generally unnecessary except for cutaneous horns, hyperkeratotic AK, where invasive
squamous cell carcinoma is suspected or where the diagnosis is in doubt
• Photodynamic therapy  topical PDT results in almost universal initial clearance  recurrence rates at 12
months vary between 28% and 0%  treatment of the scalp can be extremely painful  treatment of solar
keratoses with PDT appears to be as effective as 5-fluorouracil.
• 5-fluorouracil
• Cryotherapy
• Curettage and cautery
• Surgical excision
• Radiotherapy
• Photodynamic therapy

• Curettage and cautery  this technique is best reserved for small, well-defined primary BCC - 5-year cure
rates (CR) of 92-97% can be achieved  not recommended for recurrent BCC as the 5-year cure rate falls to
60%.
• Cryotherapy  this is a quick, easy, inexpensive and effective treatment which can result in excellent
cosmesis  5-year CR 94% to 100%
• Surgical Excision  this is highly effective for BCC  for well defined BCC <2cm excision margins of 5mm will
result in a 95% clearance rate  BCC >2 cm require wider margins to effect clearance  recurrent BCC
require wider excisional surgery
• Mohs micrographic surgery  MMS is a much more precise method of excising a tumour than excisional
surgery with a pre-determined margin  the tumour is excised, divided and stained  examination of
horizontal sections examines the entire excised tumour  however MMS is time consuming, costly and
requires specialist expertise  5-year CR - 99%.
• Radiotherapy  a useful treatment but does not provide a specimen for histologically identifying complete
removal  5 year CR - 90%.
• 5-Fluorouracil  this treatment is useful for low-risk BCC in non-critical sites  it can be particularly valuable
for multiple superficial BCC on the trunk  as a 5% cream, 5FU is applied to the lesion  an inflammatory
response takes place to destroy the lesion  considerable soreness can occur
• Photodynamic therapy (PDT)  topical PDT involves the application of a photosensitiser to a lesion followed
by an activating (visible) light source  this creates a phototoxic reaction, which destroys the tumour 
reliable 5-year follow-up data is not available and CR vary depending on methodology  currently PDT for
BCC should be performed within the context of clinical trials or reserved for BCC unsuitable for treatment by
other methods

• The majority of SCC are low risk and easily dealt with by surgical excision.
• Surgical Excision  for clinically well defined tumours, <2cm in diameter, surgical excision with at least 4mm
margin completely removes the tumour if 95% of cases  larger tumours, thicker tumours, those on high-risk
sites or those with poor differentiation should be excised with wider margins
• Curettage and cautery  small, primary, <1cm, well differentiated, slow growing on sun exposed sites can be
removed by curettage and cautery by physicians experienced in this procedure, usually 2 or 3 cycles of
curettage followed by cautery
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• Radiotherapy  this method may be appropriate for selected individuals and certain lesions as a satisfactory
alternative when extensive or mutilating surgery would be unacceptable or the surgical morbidity high
Be familiar with the various skin biopsy techniques

• Biopsy of skin lesions is useful to establish or confirm a clinical diagnosis
• A piece of tissue is removed surgically for histological examination and, sometimes, for other tests  e.g.
culture for organisms
• When used selectively, a skin biopsy can solve the most perplexing problem but, conversely, will be unhelpful
in conditions without a specific histology  e.g. most drug eruptions, pityriasis rosea, reactive erythemas
• Skin biopsies may be incisional  when just part of a lesion is removed for laboratory examination  or
excisional, when the whole lesion is cut out
• Excisional biopsy is preferable for most small lesions (up to 0.5 cm diameter)  but incisional biopsy is
chosen when the partial removal of a larger lesion is adequate for diagnosis, and complete removal might
leave an unnecessary and unsightly scar
• Ideally, an incisional biopsy should include a piece of the surrounding normal skin  although this may not be
possible if a small punch is used
• The main steps in skin biopsy are
o Administration of local anaesthesia
o Removal of all (excision) or part (incision) of the lesion
o Repair of the defect made by a scalpel or punch
SCALPEL BIOPSY
• This provides more tissue than a punch biopsy  it can be used routinely, but is especially useful for
o Biopsying disorders of the subcutaneous fat
o Obtaining specimens with both normal and abnormal skin
o Comparison
o Rmoving small lesions
• After selecting the lesion for biopsy, an elliptical piece of skin is excised  the specimen should include the
subcutaneous fat
• The wound is then sutured  firm compression for 5 min stops oozing  non-absorbable 3/0 sutures are
used for biopsies on the legs and back, 5/0 for the face, and 4/0 for elsewhere
• Stitches are usually removed from the face in 4 days, from the anterior trunk and arms in 7 days, and from the
back and legs in 10 days
PUNCH BIOPSY
• The skin is sampled with a small (3 – 4 mm diameter) tissue punch
• Lignocaine 1% is injected intradermally first, and a cylinder of skin is incised with the punch by rotating it back
and forth
• Skin is lifted up carefully with a needle or forceps and the base is cut off at the level of subcutaneous fat
• The defect is cauterized or repaired with a single suture
• The biopsy specimen must not be crushed with the forceps or critical histological patterns may be distorted.
• The tissue can be sent to the pathologist with a summary of the history, a differential diagnosis and the
patient’s age
• Close liaison with the pathologist is essential, because the diagnosis may only become apparent with
knowledge of both the clinical and histological features
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LEG ULCERATION
Interpret clinical signs to reach a likely diagnosis for a leg ulcer
• Leg ulcers are a common problem affecting 1% of the adult population and 3.6% of those over 65 years of age
 they cause considerable morbidity and represent a substantial burden on healthcare resources  venous
ulceration alone has been estimated to cost the NHS £400 million per year
• An ulcer is a break in the skin with loss of the entire epidermis and usually some or all of the dermis  ulcers
may arise as a result of both intrinsic and extrinsic processes  may be divided into acute or chronic
• Common causes of chronic ulceration are
o Venous disease
o Arterial disease
o Neuropathy
o Pressure
• Often, there is a combination of more than one of these factors  venous disease is responsible for
approximately 70% of leg ulcers, 22% have a mixed venous and arterial cause  but only 6% have a purely
arterial cause.
HISTORY
• Onset and course
• Symptoms including of vascular disease, diabetes, neuropathy
• Alleviating/exacerbating factors
• PMH (diabetes/cardiovascular disease/connective tissue disease etc.)
• Drugs (topical and systemic)
• Family history
• Social history (especially alcohol, smoking)
EXAMINATION
• Location
• Size, border, base, depth
• Surrounding skin (e.g. dermatitis, chronic venous changes, cellulitis)
• Peripheral pulses
• Capillary refill time
• Evidence of peripheral neuropathy (check sensation and ankle jerks)
INVESTIGATIONS
• FBC and CRP may help with diagnosis of infection
• Urinalysis and fasting glucose should be checked if diabetes is suspected
• Where a vasculitic cause is suspected  inflammatory markers, autoantibody screen, U&Es and LFTs are also
appropriate
• Skin biopsy from the ulcer margin may be helpful if an inflammatory or neoplastic aetiology is a possibility
• Allergic contact dermatitis is common around the site of an ulcer  due to application of multiple potential
sensitisers in topical medicaments and dressings  in this situation, patch testing should be undertaken
Be able to differentiate between venous and arterial leg ulcers

VENOUS
• Venous ulcers are often secondary to venous reflux and/or calf muscle pump dysfunction
• Competent valves are essential for blood to flow proximally towards the heart without reflux  where the
valves are incompetent, or there is failure of the pump, venous hypertension (or venous insufficiency) results.
• Causes include  there may be a combination of these factors
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o Neuromuscular dysfunction
o Damage following deep vein thrombosis
• The mechanisms by which venous insufficiency leads to ulceration are not fully elucidated  it is thought that
there may be a build up of toxic products, as well as an element of ischaemia, due to impaired local blood
flow  this may in turn promote release of inflammatory mediators.
• Chronic lymphedema  caused by inadequate clearance of lymph may also give rise to ulceration  this may
be due to stasis of protein-rich fluid causing inflammation and fibrosis, or to co-existing venous insufficiency
• Symptoms
o Limb heaviness
o Aching
o Ankle swelling
o Varicose veins may be present
o Haemosiderin deposition  causing red-brown discoloration
o Lipodermatosclerosis  characterised by induration of the skin and loss of underlying subcutaneous
tissue
o Atrophie blanche  an unusual finding associated with chronic venous insufficiency  appears as
smooth, white, sclerotic plaques
• Typically, venous ulcers are larger than those of other aetiology  they almost always occur in the gaiter area
and may be circumferential
• They are most often overlying the course of the long saphenous vein  as it travels up the medial leg from
just inferior to the medial malleolus
• They tend to be of an irregular shape, shallow in depth, with flat or sloping edges  there is usually healthy
granulation tissue in the base
ARTERIAL
• In arterial disease  progressive atheromatous changes compromise blood flow and therefore oxygen
delivery and removal of toxins  this leads to ischaemia, then necrosis and ulceration
• Other causes of ischaemic ulcers include
o Cholesterol emboli  from rupture of an atherosclerotic plaque
o Vasospastic disease  eg. Raynaud’s phenomenon
o Trauma
o Circulatory collapse  eg. cardiac arrest
• There may be symptoms of claudication  or in advanced arterial disease, ischaemic rest pain  peripheral
pulses may be weak or absent and capillary refill time increased
• Arterial ulcers characteristically are very painful  with ulcers usually occuring over a bony prominence, at
the tips of digits, or at other sites after minor trauma
• Arterial ulcers are typically round, with sharply demarcated borders  a “punched out” appearance  there
is little or no granulation tissue and the base is often dry
• Exposure of tendon or bone is more suggestive of arterial than venous aetiology  the surrounding skin may
be cool, hairless, dry and shiny
• In arterial ulcer disease, treatment of choice is surgical re-vascularisation and management of vascular risk
factors
NEUROPATHIC
• Neuropathy can lead to loss of protective pain sensation  foot deformities may also result, where the
intrinsic muscles of the foot are atrophied bringing about muscle imbalances  this leads to abnormal bony
prominences, which are particularly susceptible to ulceration
• Repetitive, unrecognised trauma occurs, due to pressure, friction and shearing.
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• Beneath the metatarsal heads is the most common site for this type of ulceration  though others include
the toes, heels and other areas of the plantar surface
• Most neuropathic ulcers occur in the context of peripheral neuropathy  this can lead to symptoms of
burning, altered sensation or paraesthesia  the ulcer will often, though not always, be painless
• Test for light touch, pinprick and vibration sensation, all of which may be reduced  deep tendon reflexes
may be depressed or absent
• The ulcer itself is likely to be in an area of pressure and there is often a thick rim of surrounding callus 
again, the ulcer may be deep, with a “punched out” appearance
• For neuropathic ulcers  the aims are to treat co-existing arterial disease and relieve pressure at the site 
various orthotic devices may be used  therapeutic footwear will be a lifelong necessity to prevent new
ulcers and callosities should be aggressively debrided, as they can increase local pressure by up to 30%
• In diabetics, the need for tight glycaemic control, management of other vascular risk factors and good foot
care cannot be overemphasised
OTHER TYPES OF ULCER

• Less common causes of ulcers include
o Vasculitic diseases
▪ Polyarteritis nodosa
▪ Inflammatory conditions  pyoderma gangrenosum
o Neoplasms  SCC may be the cause of an ulcer  but there is also an increased risk of a neoplasm
arising in an area of chronic inflammation
Discuss the pathophysiology of venous leg ulcers

Normal Abnormal
List three common complications of chronic venous ulceration

• Superficial infection  treated with topical antiseptic
• Cellutis  treated with systemic antibiotics
• Lymphoedema  treated with compression
Discuss the management of venous leg ulcers

• Non-specific treatment  includes dressings and topical applications  a moist environment promotes
healing and occlusive dressings are therefore often used
• Debridement may be achieved through certain types of dressings, surgery or by applying larvae
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• Infection should be treated with antibiotics  antiseptics should be avoided in the long-term, as there is
evidence that they may impair healing
• Dermatitis may be treated in the usual way with topical steroids and emollients
• Treatment for venous ulcers aims to reverse the effects of venous hypertension  this is achieved through
elevation and compression  having excluded co-existing arterial insufficiency
• When the ulcer is healed  the patient should be advised to wear lifelong graduated compression hosiery to
prevent recurrence
• Purely venous ulcers are sometimes treated with skin grafting  superficial venous surgery has been shown
to promote ulcer healing in patients with superficial venous incompetence only
Describe how a multidisciplinary team would manage leg ulcers optimally
Carry out and interpret Doppler assessment of ankle brachial pressure index
• The ankle-brachial pressure index (ABPI) should be calculated, by dividing systolic blood pressure at each
ankle by the higher of the two brachial systolic blood pressures
• In the absence of arterial disease, the ABPI should be 1 or greater  however, in diabetic patients, because of
vessel calcification, this may be misleading
• Treatment with full 4-layer compression bandaging is contra-indicated where the ABPI is less than 0.8  as it
will further compromise blood flow
• Duplex imaging may be helpful to exclude deep venous disease  if venous surgery being considered
• Ankle brachial pressure index  normally low in arterial ulcer
o ABPI >0.8  unlikely to be important
o ABPI 0.6 - 0.8  unlikely to be limb threatening but impaired healing: consider intervention – reduced
compression
o ABPI 0.4 - 0.6  severe ischaemia  healing unlikely without intervention – no compression
o ABPI <0.4  limb threatening ischaemia
Demonstrate a knowledge of the correct application of graduated external compression for venous ulcers
• Compression bandaging is vital for most venous ulcers  with the compression graduated so that it is
greatest at the ankle  reduces oedema and aids venous return
• The bandages are applied over the ulcer dressing  from the forefoot to just below the knee
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• Self-adhesive bandages are convenient and have largely replaced elasticated bandages
• Bandages stay on for 2–7 days at a time and are left on at night
• One four-layer compression bandaging system includes  it requires changing only once a week and is very
effective  the combined four layers give a 40-mmHg compression at the ankle
o Aayer of orthopaedic wool
o Astandard crepe
o An elasticated bandage
o An elasticated cohesive bandage
• Once an ulcer has healed, a graduated compression stocking should be prescribed  preferably at pressures
of at least 35 mmHg  a foam or felt pad may be worn under the stockings to protect vulnerable areas
against minor trauma  the stocking should be put on before rising from bed
• Care must be taken with all forms of compression to ensure that the arterial supply is satisfactory and not
compromised
OVERVIEW
Venous Arterial Neuropathic
History DM DM DM
Varicose veins Smoking Burning sensation
Aching IHD Reduced pain or no pain
Pain on long standing Atherosclerosis
Obesity Claudication
Prolonged bedrest Painful
Location Gaiter Bony prominence Bony/pressure areas
Ulcer Large Small Callous formation
Wet  venous eczema Punched out
Haemosiden deposition Deep
Atrophic blanche
Superficial
Lipodermatosclerosis
ABPI Normal <0.8 Normal
(0.8-1.2)
Management Compression Vascular consult Orthotic consult
Leg elevation
Betnovate-C
Emollient
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ECZEMA
Recognise the features of an eczematous rash
• Eczema is an itchy skin condition  characterised by
o Erythema
o Skin dryness
o Scaling
• There may be vesicles or blisters in the acute form  often associated with pain, bleeding or weeping
• In more chronic forms skin fissures and lichenification develop
• Other clinical features
o Fissures o Pain
o Vesicles/blisters o Bleeding
o Lichenification o Weeping
o Itch
Develop a rational method for classifying eczema
• Often divided into endogenous and exogenous forms  this is not ideal, as often more than one factor is
involved iIt is perhaps more useful to consider eczema as either acute or chronic
ACUTE ECZEMA
• Pathology
o Dermal vessels dilate
o Epidermal oedema  separation of keratinocyte ‘spongiosis’
o Inflammatory cells invade the dermis and epidermis
• Clinical manifestations  the appearance is rapidly modified by scratching
o Erythema
o Vesicles & exudate
o Oedema of skin
SUBACUTE ECZEMA
• Pathology
o Less spongosis
o Epidermal cells malfunction
▪ Thickening of epidermis ‘acanthosis’
▪ Increased keratin production
▪ Hyperkeratosis & parakeratosis
• Clinical manifestations
o Less vesicles
o Scaling
CHRONIC ECZEMA
• Pathology
o Marked acanthosis, hyperkeratosis & parakeratosis
o Persistent vessel dilation & inflammatory cells
• Clinical manifestations
o Thick, roughened skin
o Lichenification  dry, scaly & fissures
o Erythema
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Name the main types of endogenous and exogenous eczema

• Endogenous • Exogenous
o Atopic o Irritant
o Seborrhoeic o Infective
o Asteatotic o Allergic contact
o Gravitational/Varicose
o Discoid
Know how to distinguish irritant contact from allergic contact dermatitis
IRRITANT CONTACT DERMATITIS
• Irritant contact eczema typically involves the dorsum of hands and finger webs
• It is a direct result of irritant substances destroying the skin barrier
• Occupations as shown which have a high exposure to irritants, are most commonly affected
o Hairdressers
o Chefs
o Housewives
o Cleaners
o Nurses
ALLERGIC CONTACT DERMATITIS

• Allergic contact eczema/dermatitis  due to a type 4 delayed cell mediated allergic reaction following skin
contact with a substance
• Common sources
o Nickel in jewellery & buckles
o Hair dye
o Plants
o Topical medications
o Fragrance
o Occupational
• The diagnosis is confirmed by patch testing where a standard series of substances are placed under metal
discs on the back for 48 hours and the patient is examined for reactions at 48 and 72 hours
Describe the theory behind patch testing, its method and indications
• Patch tests are invaluable in detecting the allergens responsible for allergic contact dermatitis
• Either suspected individual antigens, or a battery of antigens which are common culprits, can be tested.
• The test materials are applied to the back under aluminium discs or patches  the occlusion encourages
penetration of the allergen
• The patches are left in place for 48 h  then, after careful marking, are removed  the sites are inspected 10
min later, again at 96 h and some-times even later if doubtful reactions require further assessment
• The test detects type IV delayed hypersensitivity reactions
• The readings are scored according to the reaction seen.
o NT Nottested
o 0 No reaction
o ± Doubtful reaction (minimal erythema)
o + Weak reaction (erythematous and maybe papular)
o ++ Strong reaction (erythematous and oedematous or vesicular; Fig. 3.9)
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o +++ Extreme reaction (erythematous and bullous)
o IR Irritant reaction  variable, but often sharply circumscribed, with a glazed appearance and
increased skin markings
• A positive patch test does not prove that the allergen in question has caused the current episode of contact
dermatitis  the results must be interpreted in the light of the history and possible previous exposure to the
allergen
• Patch testing requires attention to detail in applying the patches properly, and skill and experience in
interpreting the results
Recognise and describe the distribution and morphology of atopic, discoid, varicose, pompholytic and seborrhoeic
eczema
ATOPIC ECZEMA
• Atopy indicates a familial predisposition to eczema, asthma and hay fever
• Atopic eczema affects 10-20% of children at some point in their lives  onset is usually under 2 years of age,
 severity tends to decrease with age  50% of children will grow out of atopic eczema by 2 yrs of age, and
80% by adolescence
• The cause of atopic eczema is a complex combination of genetic and environmental factors  recent
discovery of mutations in the fillagrin gene which encodes a skin barrier protein  suggest that the primary
problem is a defect in skin barrier function which enables exposure and abnormal stimulation of the immune
system
DISCOID ECZEMA
• Discoid eczema can be seen at any age and in any site
• Presents in a disc-like shape with well demarcated nature  discrete plaques
• Infection is often a feature of discoid eczema
• The cause is poorly understood but it may be a manifestation of atopic eczema
VARICOSE ECZEMA
• The lower legs are a frequent site of eczema in the elderly  due to a combination of increased dryness of
the skin (termed asteototic eczema), and varicose veins
• Varicose eczema occurs around varicose veins  with patients often having chronic venous disease
• Compression is helpful during the phase of topical treatment, and afterwards, to prevent recurrence
ASTEATOTIC ECZEMA
• Common in elderly when the skin fat content decreases  when the skin surface dries out, a ‘crazy paving’
(eczema craquele) forms
• Treat with top steroids initially followed by long-term emollients (aqueous cream/diprobase)  avoid
excessive washing
POMPHOLYTIC ECZEMA
• Pompholytic eczema is sometimes provoked by heat or emotional upsets  and in people who are allergic to
nickel, small amounts of nickel in food may trigger pompholyx
• In this tiresome and sometimes very unpleasant form of eczema  recurrent bouts of vesicles or larger
blisters appear on the palms, fingers and/or the soles of adults
• Bouts lasting a few weeks recur at irregular intervals  secondary infection and lymphangitis are a recurrent
problem for some patients
• As for acute eczema of the hands and feet  appropriate antibiotics should be given for bacterial infections
 aluminium acetate or potassium permanganate soaks  followed by applications of a very potent
corticosteroid cream, are often helpful
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SEBORRHOEIC ECZEMA
• Seborrhoeic eczema is most common in middle aged adults  often exacerbated by alcohol
• The pathogenesis is not fully understood  it is associated with pityrosporum yeast species on the skin and
may represent an immune reaction to the yeast
• In addition to standard eczema treatments  topical antifungals are used to eradicate the yeast
List the common exacerbating factors for atopic eczema

• We know that many factors exacerbate atopic eczema  avoiding these things where possible can be
beneficial
• Exacerbating factors
o Irritants  eg. soap, nylon clothing
o Illness or teething
o Skin infection
o Stress
o Change in weather
o Allergy
o Family history
Develop a management plan for a patient with atopic eczema

• The principals of management are the same for all the different types
o Assessment and avoidance of exacerbating factors can be very beneficial
o An emollient should be applied as often as required to eliminate skin dryness
o Active areas of eczema should be treated with a topical steroid
o Other treatments should be considered if topical steroids are ineffective or giving rise to side effects
• Emollients come in many forms and degrees of greasiness  they should be used as a soap substitute and
applied directly to the skin  allowing patients to test and choose their own emollient improves compliance
• When we prescribe steroids in eczema  ointments should generally be used rather than creams because of
o Beneficial emollient effect
o Greater efficacy
o Less likelihood of developing medicament allergy with long term use
• The steroid should be applied once to twice daily in bursts of a few days to allow steroid free intervals  only
active areas should be treated to limit side effects
• Second line treatments
o Topical immunomodulators  steroid sparing agent (Tacrolimus)
o Bandaging or wet wraps
o Systemic treatments
▪ UV light
▪ Oral prednisolone, cyclosporine or azathioprine
List the main side effects of topical steroids and the measures needed to safeguard against these
• Topical steroids come in 4 strengths  the appropriate strength is the lowest one which will adequately treat
the eczema
o Mild  hydrocortisone 4%
o Moderate  eumovate
o Potent  elocon or betnovate
o Very potent  dermovate
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• Steroid side effects are rare these days, and fear of topical steroids is a common cause of under treatment 
however, caution is required in young children and in delicate sites, particularly on the face  where
telangectasia, perioral dermatitis and eye problems can occur with prolonged potent steroid use
• Possible side effects
o Striae o Glaucome
o Telangectasia o Catarracts
o Perioral dermatitis
Know how to apply topical treatments correctly and be familiar with the fingertip unit
BACTERIAL & VIRAL INFECTIONS

Understand what commensal bacteria are
• The term commensal is used to describe an organism that lives on or in another without causing disease
under usual circumstances  skin plays host to bacteria, yeasts and mites
• Bacteria are mostly  they exist in the stratum corneum and hair follicles
o Staphylococci  especially S epidermidis
o Micrococci
o Corynebacteria
o Proprionibacteria
• S aureus can sometimes be regarded as a commensal, but is of course a frequent pathogen  e.g. when living
harmlessly up the nose
• One of the functions of skin is as a barrier to infection  if that barrier becomes damaged or is penetrated,
organisms can enter and cause infection  if skin is compromised it may become more attractive to certain
organisms and overgrowth may occur  e.g. in eczema
• If infection does occur a swab should be taken to try and culture the responsible organism  the options for
treatment include topical, oral and iv antibiotics depending on the location, extent and whether systemic
symptoms are present
• If bacteria that normally live on the skin as commensals grow in excess  they too can cause disease
o Pitted keratolysis  caused by overgrowth of micrococci  occurs with occlusive footwear and
sweaty feet
o Overgrowth of corynebacteria  this is usually asymptomatic
Name and recognise the different types of skin conditions that can be caused by Staphylococcus aureus and
Streptococcus pyogenes
STAPHYLOCOCCUS
• Staphylococci can cause infection by three different mechanisms
o Primary infection occurs on previously seemingly normal skin.
o Secondary infection occurs in skin which has been damaged in some way already  e.g. wound
infection
o Staphylococci produce toxins which themselves can induce disease
• Available topical antibiotics include fusidic acid and mupirocin  oral treatments include flucloxacillin or
clindamycin
STREPTOCOCCAL
• Like Staphylococci  Streptococci can cause both primary and secondary infection, and toxin-induced
disease  but in addition can cause disease via hypersensitivity to Group A streptococci  also known as S.
pyogenes
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• Treatment is usually penicillin V  however, this does not cover S. aureus and thus flucloxacillin is often used
if there is doubt, as this has activity against both  Clindamycin is an alternative with excellent skin
penetration and efficacy
• Conditions that can follow a streptococcal infection
o Erythema nodosum
o Erythema multiforme
o Guttate psoriasis
o Vasculitis
o Glomerulonephritis
STAPHYLOCOCCUS & STREPTOCOCCUS INFECTIONS

Staphylococcus aureus
• This is often pathogenic  but can live up the nose where it doesn’t necessarily cause disease  however,
the nose can act as a reservoir for it, when it causes active infection elsewhere
• Disease is associated with direct invasion of the epidermis, hair follicle or production of toxin
Streptococcus pyogenes
• This is always pathogenic  it may not be possible to tell clinically whether lesions are due to this or
Staphylococcus aureus or both.
• S. pyogenes is a Group A Streptococcus  presents with an acute onset and rapid spread
Impetigo
• Impetigo is common in young children  it typically presents with a golden or honey-coloured crust
• It is usually due to a staphylococcal infection, but may be caused by streptococcal  sometimes both
organisms may be cultured from the same lesion
• It can present with blisters due to staphylococcal toxin  bullous impetigo  especially common in infants
• Unless the infection is very widespread it responds well to topical antibiotics or antiseptics  for more
extensive disease, systemic antibiotics are given – such as flucloxacillin
• The crust should be soaked off with soap & water  as it is full of bacteria
Infected eczema
• Eczema can become impetiginized (superficially infected) with Staphyloccous or Streptococcus
• For treatment to be effective, both the eczema and the infection must be tackled  concurrent topical
steroid of appropriate potency for site and oral antibiotics
Folliculitis
• This is another type of primary infection centred around the hair follicles  it presents with pustules which
may have surrounding inflammation
• It is usually due to S. aureus  may be difficult to treat
• Screen for nasal carriage  treat with mucpirocin nasal ointment if positive
• Topical antibiotics may be sufficient to treat folliculitis  occasionally a short course of oral flucloxacillin is
required  if recurrent or severe, a 3 month course of tetracycline may be required
Infected leg ulcer

• Infected leg ulcers should be swabbed and cultured  note that the diagnosis of infected leg ulcer is a clinical
one  as colonising bacteria such as Pseudomonas are often cultured from swabs
• Treatment may include soaks with potassium permanganate (antibacterial), opitimising other factors (diabetic
control) and oral antibiotics  compression bandaging may be appropriate if initial infection is under control
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Cellulitis
• Cellulitis is an infection of the subcutaneous tissue  it may be caused by staphylococcal or streptococcal
infection
• Often presents as unilateral redness and swelling  check for tinea pedis in patients with leg cellulitis  as
this is a common and treatable portal of entry for bacteria
• Systemic antibiotics are required to treat it
Erysipelas
• Erysipelas is a variant of cellulitis  usually caused by Group A streptococcus
• Often presents acutely  with unilateral, well demarcated beefy red plaques  very painful
• Treated with penicillin V
Ecthyma
• Ecthyma is a deeper infection caused by streptococcal infection  it is most common in patients with
diabetes or other immunosuppression
• It can present as indurated lesions with a thick crust  which may scar
• It tends to require a relatively prolonged course of oral antibiotics  2-4 weeks
Staphylococcal Scalded Skin Syndrome

• This is a rare condition which may follow even a minor infection such as impetigo  due to staphylococcal
toxins causing destruction of the skin barrier
• Sheets of skin are shed, leaving denuded erythematous areas  can be found on the face and body 
especially in the flexures
• Treatment is IV antibiotics to treat underlying infection (Flucloxacillin)  and intensive care support with
fluids, analgesia and liberal emollient
• The prognosis is usually good if the patient receives prompt treatment
Erythema nodosum
• Erythema nodosum presents with hot and tender lesions  usually a reaction and may be precipitated by
streptococcal infection  it can also be triggered by drugs or other conditions including sarcoidosis and IBD
• It usually responds to treatment of the underlying condition and NSAIDs
Erythema multiforme
• Erythema multiforme is another reactive condition  it presents as true target lesions with at least 3
different colours in them
• It may follow a streptococcal or Herpes simplex infection  can sometimes be due to drugs
• If the trigger is removed  it settles within a couple of weeks without specific treatment
Vasculitis
• The presence of non-blanching palpable purpura indicates vasculitis  it can be a post-streptococcal
phenomenon (Henoch-Schonlein) or may be due to meningococcal sepsis, viral infection, drugs or connective
tissue disease
• Management involves screening for extra-cutaneous disease and treatment of underlying problem 
although by the time vasculitis presents, this may have resolved
• NB – vasculitis may lead to organ involvement other than the skin  in particular, the kidneys must be
checked using BP, urinalysis and U&Es
Necrotising Fasciitis
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• Necrotising fasciitis is a destructive, often fatal disease  it is a deep infection caused by synergistic infection
with staphylococcus and streptococcus  it is a surgical emergency (debridement)
• It can be recognised by exquisite tenderness, signs of systemic sepsis and rapidly spreading erythema &
necrosis  the patient is usually very unwell, with features of sepsis
Mycobacerium
• Mycobacterium tuberculosis and M. leprae are the most important skin infections in humans though other
mycobacteria may cause cutaneous infection too
• Lupus vulgaris is a cutaneous M. tuberculosis infection  presents with reddish brown nodules, which slowly
enlarge to form a plaque  treatment is the same as for pulmonary TB
• Tuberculoud leprosy is caused by an infection with M. leprae  causes thickened nerves and hypopigmented
anaesthetic patches of skin  treatment is with rifampicin and dapsone for 6 months
• Lepromatous leprosy  presents with symmetrical nodules, papule and plaques  progression can lead to
the classic leonine facies  treatment is with rifampicin, dapsone and clofazimine for at least 2 years
Be familiar with the clinical presentation of skin conditions caused by human papilloma virus, pox virus, Herpes simplex
and Varicella zoster viruses
HERPES SIMPLEX
• Type I herpes simplex affects the lips  type II herpes simples affects the genitalia  however, there is
overlap
• It causes clusters of vesicles of the lips or genitalia, which can crust  the condition recurs in the same place
each time
• Topical or systemic acyclovir may help if given promptly viral infection can be confirmed by taking a viral
swab  which requires different medium from the usual bacterial swab
ECZEMA HERPETICUM
• Eczema herpeticum is when a patient’s eczema has become infected with herpes simplex virus  presents
with monomorphic vesicles initially, which eventually will crust over
• Take swab of infected area
• Requires treatment with systemic acyclovir  the eczema can be treated concomitantly with topical steroids
 antibacterial may also be used topically if infected – eg. impetigo
VARICELLA ZOSTER VIRUS

• Primary VZV is also known as chickenpox  is transmitted in respiratory droplet and can have a incubation of
14-17 days  the patient is contagious from 2 days prior to the onset of the eruption for a weak
• The disease is mild in children  but internal organ involvement may be a serious complication usually in
adults or immunosuppressed individuals
• The virus present with crops of vesicles leading to crusted papules all over the body  these are very itchy
SHINGLES
• Reactivation of VZV leads to shingles  presents with the eruption of vesicles in a dermatomal distribution
• NB – beware of vesicles on the nasal tip  involvement of the nasociliary nerve is likely to cause ocular
disease  which may be sight-threatening
• Vesicles around the external acoustic meatus may indicate Ramsay Hunt syndrome  with associated facial
palsy, deafness and vertigo
• Other complications include
o Post-herpetic neuralgia
o Secondary bacterial infection
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o Encephalitis
• Treatment is with acyclovir  but if new vesicles are no longer forming, it is too late for this to affect the
course of the cutaneous disease  associated pain may require simple analgesics and/or neurpathic agents
(eg. amitriptyline)
VIRAL WARTS
• Viral warts are caused by human papilloma virus (HPV)  there are varying types of warts
o Filiform wart
o Mosaic wart  treatment resistant
o Common warts
o Plane warts
• Lesions are commonly treated with cryotherapy or curettage  though most warts in healthy individuals will
eventually resolve spontaneously
MOLLUSCUM CONTAGIOSUM
• Molluscum contagiosum are asymptomatic lesions  they are self-limiting lesions caused by a pox virus
• It is common in children and may be worse in atopics  treatment is not usually required
Be able to discuss management of the above infections

• Covered under individual infections
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PSORIASIS
Be familiar with the different clinical presentations
GENERAL OVERVIEW
• Psoriasis is a chronic inflammatory skin condition characterised by well-demarcated erythematous plaques
topped by silvery scale with increased turnover of skin  most commonly extensor surfaces & scalp  it is a
chronic and relapsing disease
• The typical histological changes of psoriasis are thickening of the epidermis  there is no granular layer and
keratin builds up loosely at the horny layer  the rete ridges are elongated and polymorphs infiltrate up into
the stratum corneum where they form micro-abcesses  capillaries are dilated in the papillary dermis
• Lymphocytes are seen infiltrating the earliest psoriatic lesions and may initiate several of the changes
observed.
• Inherited polygenic factors predispose to the development of psoriasis  about 35% of patients show a
family history, and identical twin studies show a concordance of 80%  there is a 25% probability that a child
with one parent who has psoriasis will be similarly affected  this increases to 60% if both parents have
psoriasis  there are strong correlations with the HLA antigens CW6, B13 and B17
• Thought to affect 1-3% of the population in Europe and North America  but this maybe significantly under-
estimated, as those with mild disease may not seek medical advice  it is less common in Africa and Japan 
• It is equally common in males and females  it has two age groups of onset – late teens and 50s  the
younger patients usually have a clearer family history and are more severely clinically affected  it is unusal
in children
• Types of Psoriasis
o Chronic plaque psoriasis (90%)
o Palmoplantar psoriasis
o Flexural psoriasis
o Guttate psoriasis
o Erythrodermic psoriasis
o Pustular psoriasis
CHRONIC PLAQUE PSORIASIS

• This is the most common type  characterised by well-defined plaques typically involving the elbows, knees,
scalp margins or sacrum
• The plaques are usually red and covered by waxy white scale  vary in size and sometimes are itchy
• Removal of scale can leave bleeding points  this is known as Auspitz Sign, but it is not usually sought in
practice
• Scalp psoriasis  this may be the sole manifestation of the disease  it can be confused with dandruff or
seborrhoeic dermatitis  but is generally better demarcated, thicker and more scaly
o Salmon pink patches and plaques o Extensor surfaces
o Well demarcated o Symmetrical
o Silvery scales o Nail changes
• Psoriasis affects the matrix or nail bed in up to 50% of cases  this is frequently associated with psoriatic
arthropathy
o Pitting
o Onycholysis  Onycholysis is separation of the distal edge of the nail from the nail bed. An oily or
salmon pink discoloration of the nail bed can be seen often adjacent to onycholysis.
o Subungal hyperkeratosis  Subungal hyperkeratosis with a build-up of keratin beneath the distal nail
edge mainly affects the toenails.
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PALMOPLANTAR PSORAISIS
• Psoriasis affecting the soles of the feet  is often thick with hyperkeratosis and minimal erythema
• This is characterised by yellow to brown sterile pustules on the palms and/or soles  only a minority will have
psoriasis elsewhere
• It is often referred to as palmoplantar pustulosis  whether it is a separate condition from psoriasis is
debated.
• Chronic plaque psoriasis without pustules can also affect the palms and sole
• It is more common in female smokers
GUTTATE PSORIASIS
• Guttate psoriasis is an acute symmetrical eruption of ‘drop-like’ lesions usually on the trunk and limbs
• This form most commonly occurs in adolescents or young adults  may follow a streptococcal throat
infection
• It is self-resolving (months)  may precede chronic plaque psoriasis
FLEXUR PSORIASIS
• This variant of psoriasis affects the axillae, sub-mammary areas and natal cleft  plaques are smooth and
often glazed  due to friction and maceration  colonization by yeast & bacteria
• It is most commonly found in the elderly  may co-exist with chronic plaque psoriasis
• Napkin psoriasis  a well-defined psoriasis form eruption in the nappy area of infants  some of which
develop psoriasis
ERYTHODERMIC PSORIASIS
• Erythroderma defines any inflammatory condition, which involves all or nearly all (>90%), of the skin surface
 yhis is an important dermatological emergency since the systemic effects are potentially fatal
• It is uncommon  most likely preceding history of psoriasis  may not have other features psoriasis  may
be systemically ill
• Erythrodermic psoriasis may resemble conventional psoriasis but when the exfoliative stage is reached
specific features are lost
• Causes of erythrodermic psoriasis include
o The withdrawal of potent topical or systemic steroids
o An intercurrent drug eruption
• Needs admission to hospital for close monitoring  risk of systemic complications
o Hypothermia
o High output cardiac failure
o Sepsis
o Dehydration
o Significant protein loss
PUSTULAR PSORIASIS
• This is a rare but serious form of psoriasis that can be life threatening
• There are 2 subtypes
o Generalised  acute onset of sheets of sterile pustules on background of erythema  skin is painful
and may spread rapidly  onset is often acute  the patient is unwell with fever and malaise 
requires hospital admission
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o Localised  palmoplantar pustulosis  older age of onset, sore pustules, but no systemi symptoms
 strong association with smoking
• It can occur with ordinary psoriasis  may be precipitated by steroid withdrawal
• Acrodermatitis of Hallopeau  an uncommon form of pustular psoriasis affecting the digits and nails
List the systemic complications of severe psoriasis

• Up to 10% of psoriasis patients have arthritis  can occur without skin involvement, precede skin
involvement or succeed it  peak age of onset is psoriatic arthropathy is 40-60yrs
• Psoriatic arthritis  affects monoarticular or asymmetrical oligoarticular DIP joints  symmetrical like RA 
occurs in 5% of psoriasis patients  shows equal sex ratio
• Ankylosing spondylitis or sacrolitis  patients with this pattern are usually positive for HLA-B27
• Distal arthritis  this is most common pattern  it causes swelling of the terminal interphalangeal joints of
the hands and feets  sometimes with flexion deformity  sausage-like swelling of the digits may occur
• Rheumatoid-like arthritis  this mimics rheumatoid disease with a polyarthropathy, but is less symmetrical 
-ve for RhF
PSORIATIC ARTHROPATHY
• Oligoarticular  involvement of < 5 joints; asymmetric: knees, ankles, MCPs
• Polyarticular  wrist, distal interphalangeal joints
• Spondyloarthropathy  spondylitis and sacroiliitis
• Arthritis mutilans  this is often associated with severe psoriasis  erosion develops in the small bones of the
hands, feet and sometimes the spine  the bones may dissolve giving progressive deformities
List at least 5 possible aggravating factors

• Streptococcal throat infection  may precipitate Guttate psoriasis
• Medication  beta blockers, lithium, anti-malarials and steroid withdrawal can worsen or precipitate
• Stress & other psychogenic factors
• Alcohol & smoking
• Trauma or friction  Koebner phenomenon – new lesions appearing after local injury
• Sunlight  mostly benefical, but can aggrevate 10% of patients
Know the various topical treatment options (including coal tar, dithranol, vitamin D analogues, steroids, retinoids) and
be able to discuss the pros and cons of each
• Overview of management for Psorasis
o Education  expectations, chronic condition, impact, concerns & compliance
o Topical treatment  emollients, Vitamin D analogues & topical steroids
o Phototherapy  PUVA or UVB
o Systemic treatment  methotrexate, ciclosporin, acitretin or biologic agents
TOPICAL TREATMENT
• Possible options
o Emollients  E45
o Vitamin D3 analogues  Calcipotriol
o Topical corticosteroids  Eumovate
o Keratolytics  5% salicylic acid
o Coal tar
o Dithranol  short contact – dithrocream
• Particular areas
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o Scalp
▪ Cocoius  tar & salicylic acid
▪ Coal tar shampoo  eg. polytar, capasal
▪ Vitmain D3 analogue scalp application
OR
Topical corticosteroid scalp application
o Face  mild/moderate topical corticosteroids  eg. 1% HC or eumovate
o Flexures  mild/moderate topical corticosteroids or calcitriol ointment
o Guttate psoriasis  coal tar
o Thick plaques  salicylic acid or dithranol
• Coal tar  messy and limited outpatient used  side effects – folliculitis, irritation  cleaner tar now
available (outpatient treatment)
• Dithranol  messy and cause staining  inhibits keratinocyte proliferation  only for plaque psoriasis 
side effects – irritation  short contact regime now available (out patient treatment)
• Vitamin D analogues  stimulate differentiation, inhibit DNA synthesis and cell proliferation  Calcipotriol
binds with high affinity to skin receptors  clean and therefore good out patient treatment  rarely,
hypercalcaemia, restrict to not more than 100g per week
• Topical steroid  mild steroids  good for facial and flexural psoriasis
PHOTOTHERAPY
• Types of phototherapy
o PUVA  requires oral/topical photosensitive agent  8 methoxypsoralen
o UVB  can be combined with tar & dithranol
• PUVA  UVA & psoralens (topical & oral), which is an photosensitizing agent  side effects
o Erythema
o Pruritis
o Nausea
o Skin cancer
• UVB  narrow band (311nm) is though to have less side effects than PUVA and similar efficacy  can be
used in combination with topical tar, dithranol and calcipotriol
SYSTEMIC TREATMENTS
• Methotrexate  folic acid antagonist, binds to dihydrofolate reductase and inhibits amino acids synthesis 
selectively affects rapidly proliferating cells
o Used in psoriasis & psoriatic arthropathy
o Long term effects on the liver  causes fibrosis
o Not used if there is a high alcohol intake
o Teratogenic, nausea & GI upset
• Ciclosporin  suppression of T-lymphocytes and blocks production of lymphokines
o Short term control only
o Can cause hypertension, nephrotoxicity or carcinogenesis
o Care if hypertensive or if past phototherapy
• Acitretin  Vitamin A derivatives suppress DNA synthesis and cell differentiation
o Tetratogenic for 2yrs after finishing treatment
o Not used in young women who want to start a family
• Biological  recommended by NICE as possible treatment for severe psoriasis
Know how to write a prescription for topical treatments
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Understand the difficulties, physical and psychological, experienced by patients
• Symptoms  pain, itch, bleeding
• Appearance
o Type of clothes worn  colour/length
o Social & leisure  swimming
o Work  exposure to public
• Emotional  self-confidence, feelings of shame and uncleanliness
• Treatment  time to apply and often messy
ACNE
Understand the 3 processes involved in the pathophysiology of acne
• Acne  any disease that begins with a microcomedo  it is very common, with acne vulgaris being
the most common subtype
• Acne vulgaris  is a disease of the pilosebaceous unit or pilosebaceous follicle  variably affects the
face and torso  characterised by a greasy skin, comedones, papules and pustules  there may
also be nodules, cysts and scarring
• The disease can have a profound psychological and social morbidity, regardless of the severity  the
doctor’s role in treating acne is to decrease the psychological morbidity and prevent permanent
physical scarring
NORMAL PILOSEBACEOUS UNIT

• Sebaceous glands drain into hair follicles located all over the body  except the palms and soles
where there are no hair follicles or sebaceous glands
• The sebaceous gland secretes an oil (sebum)into the hair follicle canal or duct  propionibacterium
acnes and other bacteria also live within the hair follicles as commensal organisms
• The pilosebaceous units in acne have larger sebaceous glands in association with small residual hair
follicles  these are located mainly on the face, chest and upper back
PATHOGENESIS
• The pathogenesis of acne vulgaris is multifactorial  not completely clear but it seems to result from
the interplay of three main processes
o An increase in sebum excretion by the sebaceous glands
o Hypercornification of the follicular lining leading to obstruction of the pilosebaceous ducts
o Overgrowth of the bacterium propionibacterium acnes within the pilosebaceous ducts and
subsequent inflammation
SEBORRHOEA
• Sebaceous gland activity is regulated by a number of different hormones and mediators  androgen
hormones, in particular, promote sebum production and excretion
• Surges of these hormones occur in adrenarche and then at puberty  with a related increase in
sebum excretion  which often manifests as a greasy skin  which dermatologists call seborrhea 
this is frequently seen in adolescents and adults with acne
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• Most patients have normal androgen levels  it is much more likely that hypersensitivity of the
sebaceous gland to normal circulating androgens occurs  however a decreased level of sex
hormone-binding globulin may also play a role
• Less commonly, acne may be associated with hyperandrogenic states  such as polycystic ovaries
and other tumours
HYPERCORNIFICATION AND FORMATION OF MICROCOMEDO

• At the same time as the sebum excretion rate (SER) increases  possibly because of androgenic
effects or the irritant effects of the sebaceous lipids as they move through the ducts  the
keratinocyte cells lining these ducts show abnormal differentiation  so that there is hyperkeratosis,
and abnormal shedding
• This leads to retention of the cell lining and resultant occlusion of the ducts  forming a
microcomedo in affected ducts
• Essentially the microcomedo is a blocked pore which is the PRIMARY lesion of acne
P. ACNES AND INFLAMMATION

• In the sebum-rich environment of the pilosebaceous duct  the p. acnes bacterium proliferates and
produces chemotactic and pro-inflammatory mediators
• These substances are then thought to cause inflammation  through their diffusion through the
follicular duct into the surrounding dermis  causing an influx of neutrophils and complement
activation.
• This usually results in rupture of the follicle with leakage of the follicular contents into the dermis 
leading to a foreign body type reaction and further inflammation
NON-INFLAMMATORY LESIONS
• Microcomedo formation results in the obstruction of the pilosebaceous duct  the build up of lipid-
impregnated keratinous material produces the non-inflammatory lesions
o Acne
o Open comedones
o Cosed comedones
• The open comedo (blackhead) represents a distended pilosebaceous unit with a dilated orifice which
is impacted with keratin and lipid  the impacted material appears dark because of oxidation of
melanin  the lesions themselves are flat or slightly raised  blackheads can go on to become
inflamed
• Closed comedones (whiteheads) in contrast to open comedones may be difficult to visualise as there
is no clinically visible opening to the skin surface  they appear as pale, slightly elevated small
papules  stretching the skin helps to detect the lesions  they more likely to become inflamed
than open comedones as the follicles can burst more easily
INFLAMMATORY LESIONS
• The inflammatory lesions of acne vary from small erythematous papules (with surrounding
erythema) and pustules to large, tender fluctuant nodules and rarely cysts and abscesses
• When a closed comedo bursts  it releases irritant free fatty acids into the surrounding dermis and
causes papules and pustules  these are the more superficial inflammatory lesions of acne  they
may last from between 1and 2 weeks
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• Nodules are often painful  will last a few weeks to months  they occur when there is an
excessive inflammatory response in the surrounding dermis
• True cysts are rarely found in acne  abscess formation tends to be unique to acne conglobate  a
rare type of acne, which is a highly inflammatory disease that usually starts in adult life
• All these inflammatory lesions may result in permanent scarring or tethering of the skin
RESOLUTION & SCARRING

• A number of skin changes may occur when the inflammatory lesions of acne settle
• Erythematous macules, hyperpigmentation-seen mainly in dark-skinned patients or hypopigmented
macules  are all post inflammatory changes which commonly occur with the resolution of the
more superficial inflammatory lesions- papules and pustules  these are often transient and do not
cause scarring
• When the larger inflammatory lesions settle  there is often a degree of scarring
• The resultant scars include
o Those associated with loss of collagen
▪ Ice-pick scars
▪ Macular atrophic scars
▪ Deep atrophic scars
▪ Depressed fibrotic scars
o Those with increased collagen
▪ Hypertrophic scars
▪ Keloid scars  typically occur on the upper back, chest and shoulders
• There is often a spectrum of clinical features seen in acne  in some, the presence of comedones
predominate  whilst in others the acne may be particularly inflammatory with multiple
erythematous nodules, pustules and papules with very few comedones, and a variable degree of
scarring
• Generally the more severe the inflammatory component of acne  e.g. presence of multiple tender
nodules  the more likely it is to scar and the more severe the acne is
AGGRAVATING FACTORS
• Acne may worsen with the use of oily cosmetics and hair greases as they are comedogenic
• Facial treatments  such as facial saunas, heat and massage may precipitate the development of
inflamed lesions as can vigorous or excessive washing
• Squeezing lesions  such as closed comedones should definitely be discouraged as this may also
lead to the development of inflamed lesions
• Medicaments  such as the high progesterone containing oral contraceptive pills, and potent
topical or oral steroids can all worsen existing acne or precipitate lesions of acne  these lesions
may resolve when the medication is stopped
• Overview
o Occlusive cosmetics/hair products
o Heat/humidity
o Excessive/vigorous washing
o Manipulation of lesions
o Exogenous medications  eg OCP or steroids
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List 3 different types of acne and explain why differentiating between them are important
ACNE VULGARIS
• Acne vulgaris affects up to 85% of those aged between 12 and 24 years old
• It usually starts at puberty but can occur just prior to the onset of puberty, and will therefore occur
sooner in females than males  in adolescence it actually affects boys more commonly than females
• For the majority it tends to resolve by the late teens or early twenties 00> but it can persist for
longer, even into the forties, and this is much more likely in women
• Acne can also develop for the FIRST time in people in their late twenties or even in their thirties.
OTHER SUBTYPES
• Cystic acne or acne conglobate
• Acne fulminans
• Acne excoriee
• Neonatal acne
• Infantile acne  between 3-12 months  mainly males and facial  treated with erythromycin
• Endocrine acne  2o to PCOS, Cushing’s disease, etc
• Occupational acne  cutting oils, crude tars, atypical sites where soaked clothing in contact with skin
• Tropical acne  young Caucasians in hot humid climate, gross acne lesions on the trunk
• Cosmetic acne
• Medication acne (steroid)  monomorphic lesions mainly on the trunk, in patients on systemic steroid
Know the indication and potential side effects of the following topical treatments - benzoyl peroxide, antibiotics,
retinoids
• Essentially topical treatments are the first-line treatment in mild to moderate acne  when there
are mixed lesions present it is often useful to use a combination of topical agents
• They should be applied once to twice daily  but this is not always possible due to irritation
• In sensitive skin topical agents do have a limited role
RETINOIDS
• Retinoids are vitamin A derivatives  in topical form these agents are comedolytic  which means
they remove the surface keratin - essentially unblocking the pores and allowing drainage of
microcomedonal contents
• They secondarily prevent the formation of new acne lesions  which include the inflammatory
lesions as well as the comedones
• They are the first-line treatment for comedonal acne and need to be prescribed
• Various strengths and preparations (in the form of gels and creams) exist  even as topical agents
they are potentially teratogenic and should not be used in pregnant or breast-feeding women
• Photosensitivity can also occur  but the main limiting factors are erythema and irritation
BENZYL PEROXIDE
• Alternative treatments to topical retinoids for comedonal acne are
o Benzoyl peroxide-an antibacterial agent  which is widely used
o Azelaic acid cream  which is rarely used
• Whilst both of these agents have some comedolytic activity  their main effects are due to their
effect on reducing the number of p. acnes bacteria and inflammation  they are therefore indicated
for mild to moderately severe papulopustular acne
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• Benzoyl peroxide products are available over the counter and by prescription in a variety of topical
forms  including soaps, washes, lotions, creams, and gels
• Patients should be warned that all preparations can bleach clothes
Know the indication for and be able to discuss the risk and benefit of the following systemic therapies - tetracyclines and
other antibiotics, cyproterone acetate, isotretinoin
• Erythromycin and clindamycin appear to be both safe and effective for the topical treatment of mild
to moderate inflammatory acne  they cause less irritation than BPO and do not bleach clothes 
but because of the possibility of bacterial resistance, treatment should be limited to 6 months only
• Combination treatment with BPO is available and is more effective than the single agents alone
• Patients may find that these topical agents have been marginally effective or ineffective for treating
their acne  others may present for the first time with moderately severe to severe acne.
• In these instances, systemic antibiotics are indicated  the presence of acne scarring, marked post-
inflammatory skin changes, or the involvement of the chest and back are other reasons for
commencing oral antibiotics
• As emphasised previously these should always be commenced with one or more topical agents 
such as a retinoid and BPO as this will increase the likelihood of complete control
• The first line antibiotics used in acne are the cyclines  commonly lymecycline and doxycycline as
they are taken just once a day, are generally well tolerated and are usually more effective than
tetracycline
• However due to their effects on bone growth in the foetus and discolouration of growing teeth in
children all cyclines are contra-indicated in pregnancy and breast-feeding, as well as in children
under the age of 12
• Erythromycin is an alternative antibiotic which is safe in pregnancy  but is limited by its gastro-
intestinal side effects
• Even trimethroprim is occasionally used as a third-line agent, but it is not licensed for use in acne.
• To reiterate again, antibiotics should be used for at least 6 weeks to assess efficacy  and if there is
no clinical effect by then, an alternative antibiotic should be used
RESISTANCE
• The biggest problem with using antibiotic therapy is the emergence of bacterial resistance  this is
seen more commonly when using erythromycin, where staphylococcal resistance is also seen  no
routine testing is available and therefore clinical judgement is important
• As with topical antibiotics  resistance may be limited by combining therapy with topical non-
antibiotic agents and limiting the duration of treatment to 6 months or less
• If a topical and systemic antibiotic are used simultaneously you should preferably use the same type
of antibiotic as this will decrease the risk of multiple resistant bacterial strains developing
• If a good sustained response has previously been seen using one antibiotic  then that antibiotic
should be restarted if treatment is indicated  to limit the need for this, remission should be
maintained with a topical retinoid or BPO
HORMONAL TREATMENT
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• Hormonal treatments may be useful in FEMALE patients  the main treatment used in acne is
Dianette, an oral contraceptive pill that contains an oestrogen ethinyloestradiol and the anti-
androgen cyproterone acetate
• It is licensed for use in treating moderate to severe acne in patients who have failed to respond to
systemic antibiotics
• It may also be useful in patients with clinical signs of hyperandrogenism, those with acne flares at
their menstrual periods or those with seborrhoea and persistant inflammatory lesions on the lower
face
• It is as effective as an oral antibiotic  but it must be used with caution
• It is contraindicated in both pregnancy and breast-feeding and in those with a previous history or
close family history of idiopathic venous thromboembolism and in those with a known current
venous thrombotic or embolic disorder  caution should also be used in those at high risk of these
disorders
ISOTRETIONON
• This is a retinoid that is highly effective for the treatment of acne as it tackles the root of the
problem in acne development  the sebaceous gland and therefore affects all subsequent
pathogenic stages
• Other indications
o Severe acne
o Active acne with scarring
o Resistant disease
o Where rapid relapses on cessation of oral therapy
o Acne leading to psychological/psychiatric disease
• In particular prevention of further physical scarring from acne is highly important  as is treating a
patient who may have psychiatric disease such as depression because of their acne  however the
drug must be prescribed by a dermatologist and the patient kept under regular review during the
course of treatment as there are a variety of serious side effects
• The most serious side effect is that the drug is highly teratogenic  so female patients of child-
bearing age must be on effective methods of contraception  which usually includes the OCP for
the duration of treatment and one month prior and post treatment  patients opting not to do this
must sign a declaration and take adequate precautions not to get pregnant
• Other side effects
o Dry skin o Dry mucosa
o Cheilitis o Epistaxis
o Dermatitis o Hair loss
• Some patients do report mood changes  there have been a few cases of severe depression and
even suicide reported in patients on isotretinoin  even though the evidence for the drug being the
cause of the problem is lacking, patients are forewarned
• All patients tend to get a dry skin, particularly dry, cracked lips, and occasionally nose bleeds.
• Fasting lipids, LFTs, FBC, are performed in all patients before treatment  repeated one month into
treatment.
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• Female patients must have a negative urinary pregnancy test and have monthly pregnancy tests
performed
• Isotretinoin is used as a single agent on a daily basis  so all other acne treatments are stopped.
• The course of treatment is usually for 4-6 months  ts success rate at curing acne is high with only
22-30% relapsing, at some stage
Formulate a treatment plan for a patient with acne
Be able to describe 2 treatment options for scarring

• All treatments for acne scarring should be done once the active disease has completely settled
• Selected patients may be treated with microdermabrasion or dermabrasion for superficial scarring
 but this is not done routinely on the NHS
• Laser resurfacing may be used to improve the appearance of atrophic scars  but risks leaving
permanent pigmentory changes  including hypopigmentation that may only be visible some years
later on fair or pigmented skin  presently there is no NHS funding for this in most centres.
• Large ice-pick scars may be removed with punch biopsy  keloid scars may be treated with
intralesional steroids
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FUNGI & INFESTATIONS

Recognise and describe the cardinal physical signs of dermatophyte infection of the skin and nails
• Dermatophytes are a group of fungi that invade and multiply in stratified squamous epithelium  he modes
of transmission can be human to human, animal to human and soil to human  the three common genera
o Microsporum
o Trichophyton  most common
o Epidermophyton
TINEA
• The lay term for tinea is ring worm  is defined its body site involved
• Tinea corporis  presents with multiple annular scaly plaques on the body
• Tinea cruris  very common in the groin with an annular scaly edge  extending out from the creases
• Tinea manuum  presents as asymmetrical involvement with scaling  prominent on the hand and can spread
to the wrist
• Tinea pedis (athletes foot)  the most common variant presents with white maceration between the toe webs
 more severe involvement can show as scaling, pustules and erythema on the sole of the foot  with time
this can spread, similar to other body sites, with an advancing edge  with more widespread bilateral
involvement – this is sometimes referred to as moccasin feet.
• Tinea of the nails or onychomycosis  is extremely common, especially on the feet  there are various forms
with distal white discolouration, loss of nail plate, onycholysis with the nail lifting up from its bed and
hyperkeratosis  this may be mistaken for psoriasis which is the most common differential diagnosis
• Tinea capitis  tinea infection on the scalp  more common in the Afro-Caribbean population  believed that
there is an increased genetic risk in this particular population  it can present in different forms with scaling
and hair loss  persistence of the fungus and reaction to it can lead to a boggy swelling known as kerion
INVESTIGATIONS
• For any suspected fungal infections  the investigation of choice is skin scrapings  this is the procedure
where the scale from the advancing edge is scraped to remove keratinised tissue
• For nail infections, nail clippings, including the sub-ungual debris  is sent for microscopy and culture
• On the scalp for infections which enter the shaft of the hair  hair is sampled by plucking the hair and sent for
mycological examination
• Certain fungi fluoresce under UV light examination known as a Wood’s light.
DIFFERENTIALS
• Psoriasis  may present with scaly, annular eruption  as well as onycholysis and pitting , this is useful as this
is not seen fungal infections
• Discoid eczema or nummular dermatitis  presents as very itchy annular plaques, with scaling throughout the
plaque  without the central clearing that is seen in tinea
• Erythrasma  tinea in the groins or axillae may be mistaken for this  it is a bacterial infection which causes
erythema and very fine scaling  it fluoresces pink on Wood’s light examination and is treated with antibiotics
such as Erythromycin
• Candidiasis  is extremely common with erythema extending out of the folds  the important clinical features
are small satellite lesions and sometimes pustules at the edges of the eruption  unlike the clear, well defined
edge of tinea.
• Candidiasis can be commonly found affecting the genitalia, peri-ungual sites and around the mouth  the high
risk groups are the very young and old  immunosuppressed patients such as those who have had renal, liver
792
or heart transplants are also at risk  patients on long term steroids or antibiotics and diabetics are also prone
to candidiasis
• Candidiasis may be treated with polyenes such as Nystatin or Amphotericin B if it is a systemic infection  other
common treatments include topical Azoles such as Clotrimazole or oral Fluconazole
Know how to treat fungal infections of the skin and nails, and recognise when systemic therapy is required
• Most localised skin infections respond to topical anti-fungal agents  such as one of the Azoles (Miconazole)
or topical Terbinafine
• For nail, scalp and hair infection or widespread skin infection  it is much better to use a systemic agent such
as Terbinafine or Itraconazole  for widespread infection in immuno-compromised patients, systemic therapy
is essential
• Terbinafine is the major antifungal used in the UK  it is the most effective oral agent for dermatophyte
infection  it is fungicidal and has very few adverse effects  it is commonly given as a tablet 250 mg daily for
two to four weeks when affecting the skin, three months for finger nail involvement and three months or longer
for toe nail infections
• Systemic Azoles are also fungicidal and are metabolised by the liver  caution with pre-existing liver disease
and liver function
o Imidazoles  Ketoconazole can be used topically and as a shampoo  because of the inhibition of
androgen synthesis leading to gynaecomastia  rarely used systemically
o Triazoles  Fluconazole and Itraconazole are very effective  very few side effects and are the
systemic agents of choice
• Griseofulvin was the most popular agent for many years, but it is limited by its fungistatic nature  it is often
given to children as this is the only licensed treatment for tinea in under twelves  it is hampered by its long
duration of treatment courses  six to eight weeks for skin and scalp involvement with twelve months or
greater for nail involvement  it may induce a photosensitive rash and has to be used cautiously as it reacts
with many other drugs which are metabolised by the liver.
Know the 2 common skin conditions that have been attributed to Malassezia furfur and be able to suggest appropriate
treatments for these conditions
• Malassezia is not a fungi, but has similar skin involvement  malassezia or pityrosporum species are commensal
on everybody’s skin  the two most common cutaneous manifestations are
o Pityriasis vesicolor
o Seborrhoeic dermatitis
• Pityriasis vesicolor  is characterised by the development of finely scaling yellowish or brown macules 
most commonly seen on the trunk  the eruption may be hypopigmented or hyperpigmented depending on
the racial skin type
793
• If you gently scrape over the lesions, one can detect the mild scaling  it is often seen when people return
from a holiday abroad with hypopigmentation at the site of the lesions  even when the infection is treated,
relapse is common
• Treatment of pityriasis vesicolor is usually topical with an antifungal agent such as Miconazole  older
treatments include Selenium sulphide shampoo which is applied overnight and washed off on three
consecutive days  for more extensive disease Itraconazole daily for a week is the treatment of choice or for
those patients who are immunosuppressed
• Seborrhoeic dermatitis is relatively common  it is a mild form of dermatitis which commonly affects either
eye brows, para-nasal areas and around the mouth or sometimes all three areas
• In the scalp and very young children, this is known as cradle cap  milder involvement with age is commonly
known as dandruff  in the flexures, scaling may be lost with just erythema visible
• Treatment options include topical Azoles which may be given in a cream or shampoo base  low potency
steroids can be used for rapid treatment but cannot be used long term  even though topical immuno-
modulators, Tacrolimus and Pimecrolimus are not licensed, they are used in cases where long term topical
steroids have been difficult to withdraw  one has to remind the patient that recurrence is common
Identify scabies infection using information from history and examination

SCABIES
• Scabies is caused by the sarcoptes scabiei mite  it spreads from humans to humans and by close contact 
this may be young children who hold hands, elderly patients visited by their relatives or health workers who
deal with the elderly  it is not spread by clothing or dirty toilet seats
• The basic clinical features of scabies are itchy spots which become excoriated with time  one can
sometimes detect burrows which are small tracks
• Commonly sites involved are
o Finger webs o Breasts in women
o Flexures o Ankles
o Axillae o Insteps
• There is a severe form which used to be known as Norwegian scabies  this is now referred to as crusted
scabies  seen more in immuno-compromised or elderly patients with a high mite load
• Excoriation is due to the body reacting to the mite faeces  the longer the scabies infection is left untreated,
the more burrows are present  in children it may be associated with blistering of the palms and soles due to
the severe host response to the infestation
HEAD LICE
• Head lice are very common  they live on hair and feed on the blood within the scalp
• This infection is spread by close contact  such as children or family members who are in close contact when
playing
• The most common presenting symptom is persistent itching in the scalp  the signs include egg casings or
nits
• Occasionally you can see live lice on the hair  this is associated with redness and excoriated papules 
obviously more lesions are seen if the lice are left untreated
Know the treatments for scabies and head lice, and describe how to use them properly
SCABIES
• Important treatments for scabies are the careful use of Permethrin or Malathion  this should be left applied
to the skin for at least twelve hours (overnight)  in some cases it may need to be repeated one week after
the initial therapy
794
• However, the most important feature of treatment is to treat any close contacts at the same time  ie
members of the family or all members of a ward, including the health care workers
• It is advisable to wash clothes and bed linen  one should remind patients that following the treatment
itching may persist for several weeks  this may lead to eczema formation, which may be treated with a
potent steroid for a short period
HEAD LICE
• The treatment of head lice changes from time to time depending on local treatment policy guidelines
• The most important aspect of treatment is fine combing to remove the nit casings and using a suitable hair
conditioner
• Pediculocides such as Malathion, Permethrin and Carbaryl can be used  but are not terribly effective and
resistance has been reported
• One has to keep checking the hair on a regular basis to make sure all nits are removed
• It is difficult to eradicate in schools unless there is a high degree of vigilance and treatment continued with
regular combing
795
DERMATOLOGY PHOTOS
THE SKIN AND SYSTEMIC DISEASE
NECROBIOSIS LIPOIDICA
Dorsum of foot
Lower leg
DIABETIC ULCER
Over Achilles tendon
796
ACANTHOSIS NIGRICANS
Neck
Axilla
ACQUIRED ICHYTHOSIS
Lower leg
Lower leg
797
DERMATOMYOSITIS
Purple face with sternal erythema
Gottron’s papules
DERMATITIS HERPETIFORMIS
Neck
Arms
798
ERYTHEMA NODOSUM
Lower leg
HENOCH-SCHOLEIN PURPURA
TOXIC ERYTHEMA
799
ERYTHEMA MULTIFORME
Hand
Upper arm
STEVEN-JOHNSONS SYNDROME
800
TOXIC EPIDERMAL NECROLYSIS
BENIGN AND MALIGNANT MELANOCYTIC LESIONS

CONGENITAL NAEVUS
JUNCTIONAL NAEVUS
INTRADERMAL NAEVUS
801
ATYPICAL NAEVUS
HALO NAEVUS
BLUE NAEVUS
802
LENTIGO MALIGNA
LENTIGO MALIGNA MELANOMA
SUPERFICIAL SPREADING MELANOMA
NODULAR MELANOMA
ACRAL MELANOMA
803
SEBORRHOEIC WART
PIGMENTED BCC
DERMATOFIBROMA
804
PYOGENIC GRANULOMA
805
NON-MELANOMA SKIN CANCERS AND BENIGN SKIN TUMOURS

ACTINIC KERATOSES
806
MORPHOEIC BCC
PIGMENTED BCC
DERMATOFIBROMA
807
NEUROFIBROMA
KERATOACANTHOMA
STRAWBERRY NAEVUS
808
CHERRY ANGIOMA
PYOGENIC GRANULOMA
SEBORRHOEIC KERATOSIS
VIRAL WART
Hand
809
Heel
810
LEG ULCERATION
ARTERIAL ULCER
VENOUS ULCER
ALLERGIC CONTACT DERMATITIS ULCER
811
VASCULITIC ULCER
NEUROPATHIC ULCER
ATROPHIE BLANCHE
812
LIPERDERMATOSCLEROSIS
VENOUS ECZEMA
HAEMOSIDERIN DEPOSITION
813
ECZEMA
IRRITANT CONTACT ECZEMA
ALLERGIC CONTACT ECZEMA

Belt
Deodorant
814
Shoes
ATOPIC ECZEMA
DISCOID ECZEMA
815
VARICOSE ECZEMA
ASTEATOTIC ECZEMA
POMPHOLYTIC ECZEMA
816
SEBORRHOEIC ECZEMA
ECZEMA HERPETICUM
817
BACTERIAL AND VIRAL INFECTION

IMPERTIGO
BULLOUS IMPERTIGO
FOLLICULITIS
ECTHYMA
818
WOUND INFECTION
CELLULITIS
ERYSIPELAS
819
STAPHYLCOCCUS SCALDED SKIN SYNDROME
ERYTHEMA NODOSUM
ERYTHEMA MULTIFORME
NECROTISING FASCITIS
820
INFECTED ULCER
GROUP A STREPTOCOCCAL INFECTION VASCULITIS
KERATOLYSIS
821
ERYTHRASMA
MYCOBACTERIA
TUBERCULOID LEPROSY
822
LEPROMATOUS LEPROSY
HERPES SIMPLEX
ECZEMA HERPETICUM
823
VARICELLA ZOSTER INFECTION
SHINGLES
824
VIRAL WARTS
MOLLUSCUM CONTAGIOSUM
825
PSORIASIS
CHRONIC PLAQUE PSORIASIS
PALMOPLANTAR PSORIASIS
FLEXURE PSORIASIS
826
GUTTATE PSORIASIS
ERYTHODERMIC PSORIASIS
PUSTULAR PSORIASIS
827
ONYCHOLYSIS
SUBUNGAL HYPERKERATOSIS
NAIL PITTING
828
ACNE
ACNE VULGARIS
OPEN COMONADES
CLOSED COMONADES
ACNE PAPULES
829
ACNE PUSTULES
ACNE CYSTS
ACNE EXCORIEE
ACNE FULMINANS
830
FUNGI AND INFESTATIONS

TINEA CORPORIS
TINEA CRURIS
TINEA MANUUM
831
TINEA PEDIS
TINEA UNGUIUM (ONYCHOYCOSIS)
TINEA CAPITIS
832
PITYRIASIS VERSICOLOUR
SCABIES
HEAD LICE
833
834
Ophthalmology CP2 Learning Objectives Specials
OPHTHALMOLOGY
BASIC CLINICAL SKILLS
Apply knowledge of basic science to clinical practice
Demonstrate knowledge of underlying pathophysiology of the common and important ocular conditions
Recognise the common clinical conditions in Ophthalmology with adequate description and interpretation of the
associated clinical findings
Analyse the clinical signs and symptoms identified to make differential diagnosis
Examination of the anterior segment of the eye and retina with Ophthalmoscope and be able to recognise and interpret
clinical signs and pathological lesions in the retina and anterior segment including the front of the eye
Assess basic visual acuity of the patient on Snellen chart with and without pin hole
Demonstrate basic visual field examination and interpretation of visual field defects
Demonstrate pupil examination and interpret abnormal pupillary reflexes and localise the level of pathology in context
of pupillary pathway
Demonstrate eye movement (ocular motility) examination and interpret abnormal findings from ocular motility tests
Know the common and relevant investigations performed in Ophthalmology for diagnosis and treatment plan for
common and important Ophthalmological examinations
Understand importance and outcome of visual threatening conditions and prioritise referral for specialist opinion
accordingly
835
OPHTHALMOSCOPY
Describe the important retinal landmarks and their orientation and dimensions with ophthalmoscope
• Cornea  0.5mm thick and is the main refractive structure (40 dioptres)  It has 5 distinct layers and it is the
endothelial layer that maintains the hydration  its transparency is achieved by cell orientation and lack of
vessels
• Conjunctiva  translucent mucous membrane that starts at the limbus and covers the sclera and internal
surface of the lids  it contains mucin secreting goblet cells
• Sclera  irregular hydrated collagen fibres form a 1mm thick opaque layer which is covered by highly vascular
episclera  the posterior sclera foramen transmits the ON and central retinal vessels
• Iris  two layers, the stroma and pigment epithelium
o The stroma is a thin avascular layer which contains the sphincter pupillae muscle  determines the
iris colour
o The second layer is the pigment epithelium which contains the majority of the iris pigment and
contains the dilator pupillae muscle
• Lens  held by zonules  the epithelium produces lens fibres throughout life  it has a high protein content
and gets its nutrition and oxygen from the aqueous  cataracts can affect all its components
• Ciliary body  part of the uvea and functions include
o Aqueous secretion
o Accommodation
o Influences aqueous outflow
• Vitreous  a transparent gel which is firmly attached to the optic disc and pars plana  it contains thin
collagen fibres and is 99% water  its function is unknown and it has a higher rate of degeneration with age
• Retina  has macular and peripheral regions
o The macula provides the colour vision (cones) and the fovea lies at the centre of the macula
o The peripheral retina provides side/night vision (rods)
• The retina also has two basic structures  the neural retina and the retinal pigmented epithelium (RPE) 
the neural retina is responsible for generation, amplification and transport of electrical signals whilst the RPE
provides functional and metabolic support for the photoreceptors
• Fovea  a 1.5mm diameter depression  is the region with the highest concentration of cones
• Choroid  part of the uveal tract and is a vascular sheet between the retina and sclera  it is 0.25mm thick
and contains an extensive network of fenestrated vessels  it provides the blood supply to the outer retina
and it separated from the retina by Bruch’s membrane
• Optic nerve  formed by 1 million ganglion cell axons and has a central clearing (cup) which is an empty
space  it contains the central retinal vessels and the nerve is myelinated posterior to the sclera  it is
covered by an extension of the dural sheath from the brain
Practice the technique of Ophthalmoscopy on normal subject followed by examination of patients with common retinal
conditions
RED REFLEX
• Standing at arms length from the patient and looking through the ophthalmoscope at the pupil  ensuring
the iris is in focus
• Lens opacities (cataracts) are seen as dark areas in the reflex
• If no red reflex is visible  the patient may have a very dense cataract or a vitreous haemorrhage
FUNDOSCOPY
• Dilate the patients pupils with 1% tropicamide if possible
• Ask the patient to look straight ahead
836
• Use your right eye to look at the patients right eye and vice versa
• Rest your hand on the patients forehead  this helps give you an idea of how close you are to the patient
(assuming your proprioception is intact!)
• Looking through the ophthalmoscope, slowly approach the eye  the closer you get, the wider the field of
view  remember not to cross over the midline or the patient may start focusing at you
• Adjust the focusing on the ophthalmoscope until the retina is clearly in focus
• Try to find the optic disc first  this helps you orientate yourself  if the patient is looking straight ahead,
and you approach the patient from the side, you should soon find the disc
• Inspect it for evidence of glaucoma, pallor or swelling
• Then follow the vessels outwards  scanning the peripheral retina
• Examination of the periphery is helped by asking the patient to look in the direction you would like to examine
• Finally ask the patient to look straight towards you to examine the macula area
• If you want to examine the anterior segment  adjust the focusing to approximately + 10
Interpret and describe various retinal findings with appropriate differential diagnosis
• In this ophthalmoscopic view of the normal retina of the left eye  note the optic nerve head (optic disc) on
the left (yellow arrow)
• Coming from the optic nerve are the retinal arterioles (red arrow)
• Going to the optic nerve are the retinal venules (blue arrow)
• The area to the right of center without blood vessels is the macula with its central fovea (green arrow).
837
VISUAL FIELD EXAMINATION

Understand the anatomical basis of different field abnormalities
• Visual defects are always described and drawn from the patient’s
perspective
1. Unilateral blindness
2. Bitemporal hemianopia
3. Homonymous hemianopia
4. Quadrantic hemianopia  upper
5. Quadrantic hemianopia  lower
6. Homonymous hemianopia with macular sparing
• Homonymous hemianopia  due to lesions of optic tract or lateral
geniculate body (trauma or vascular)
o Superior quadrantiopia  temporal lobe lesion
o Inferior quadrantiopia  parietal lobe lesion
• Bitemporal hemianopia  due to lesion at optic chiasm
o Bitemporal superior quadrantinopia  pressure from below
chiasm  commonly pituitary tumours
o Bitemporal inferior quadrantinopia  pressure from above
chiasm  eg. Cranipharyngioma, meningioma, carotid
aneurysm
• Glaucomatous defects  due to arcuate scotoma
• Enlarged blind spot  eg. papilloedema or myopic periparllary atrophy
• Central scotoma  eg. macular degeneration, optic neuritis or toxic amblyopia
• Peripheral field constriction  eg. Glaucoma, retinitis pigmentosa, poisons, bilateral occipital lobe infarcts,
hysteria
• Altitudinal defect  eg. Ischaemic optic neuropathy, occlusion 1st order branch retinal artery or vein
• Defect crossing vertical/horizontal axes  retinal pathology – eg. detachment
Know how to examine the visual fields and practice the skill for examination of field and interpret the common visual
field defects
• Visual fields  ask patient about any vision problems (eg. bumping into things)  ensure you are roughly the
same height as examiner, approx. 1m apart  repeat with both eyes
o Screening  ask patient to look into both your eyes, ensuring your hands are midway between you
and the patient  make small wiggle movement with the tips of your fingers in each of the 4
quadrants  ask the patient to point to the moving fingers
o Confrontation  ask patient to cover one eye and look into your opposing eye (cover the same eye)
 bring your wiggling fingers slowly into the field of vision noting where the patient first detects it 
start peripherally in each quadrant
838
EYE MOVEMENTS
Outline the actions of different extraocular muscles and associated eye movements
• Binocular vision requires:
o Two eyes with co-ordinated function
o Each must have good vision
o Each eye must be directed toward the same target
• The mechanisms which enable the two eyes to move and work as a single
functional unit include:
o Extraocular muscles
o Control of eye movements
▪ Infranuclear pathways  eg. peripheral course of CN III,
IV & VI
▪ Cranial nerve nuclei and the supranuclear pathways 
eg. from the cortex
• Muscles:
o Superior oblique  CN IV (Trochlear – nucleus in midbrain)
o Inferior oblique  CN III (Oculomotor – nucleus in midbrain)
o Superior rectus CN III (Oculomotor – nucleus in midbrain)
o Inferior rectus  CN III (Oculomotor – nucleus in midbrain)
o Medial rectus  CN III (Oculomotor – nucleus in midbrain)
o Lateral rectus  CN VI (Abducens – nucleus in pons)
• Levator palpebrae superiosis  CN III  elevates the eyelid with
sympathetic assistance
• The recti originate from a common tendinous ring in the posterior part
of the orbit
• Movements brought about by each muscle as if it were acting alone
Demonstrate cover/uncover test and alternate cover test in normal subjects and patients with eye movement disorders
• To test extra-ocular muscles you need to isolate the
action of a given muscle from the other  this involves
moving the eye into a starting position and then
performing a specific movement
• NB – the starting position is different to the neutral
anatomical position
• Eye movements  patient’s head in neutral position 
observe for ptosis, squint or nystagmus  move finger in
a H shape in front of the patients face and ask them to
follow your finger with their eyes
LATERAL RECTUS
• Abducens nerves only supples lateral rectus  left lateral rectus paralysed – left eye deviates medially in
forward gaze due to unopposed action of medial rectus  convergent squint
• Left abducent nerve palsy  absence of ability to abduct on the affected side  horizontal diplopia
worsening on looking toward affected side
SUPERIOR OBLIQUE
• Trochlear nerve only supplies superior oblique  left superior oblique paralysed – left eye deviated laterally
in forward gaze  compensated for by adjustment of head position
839
EYELID
• The eyelid movements are controlled by 3 muscles:
o Orbicularis oculi  CN VII  closing
o Levator palpebrae superioris  CN III  opening
o Superior tarsal muscle  sympathetic  opening
840
EXAMINATION OF PUPILLARY REFLEXES

Elaborate the anatomy of the neuronal pathways for the pupils
PUPILLARY LIGHT REFLEX
• Tests the functioning of the retina, CN II, midbrain and CN III
• Shining a bright light in one causes constriction of the pupil in both eyes  consensual light reflex
• Process of post-ganglionic parasympathetic neurone passes to sphincter pupillae  distributed with
ophthalmic division of trigeminal nerve
• Ciliary ganglion  parasympathetic ganglion of the oculomotor nerve  in the orbit
• Edinger-Westphal nucleus  found in the midbrain  parasympathetic nucleus of oculomotor nerve (CN III)
• Consensual light reflex  bilateral distribution of process in the brainstem results in constriction of both
pupils
Understand the basis of the different pupil reflexes including the parasympathetic, sympathetic and accommodation
pathways
PARASYMPATHETIC PATHWAY
• Originates in Edinger-Westphal subnucleaus of CN III  passes with CN III (inferior branch) to synapse in
ciliary ganglion before supplying constrictor pupillae of the iris
SYMPATHETIC PATHWAY
• The sympathetic pathway begins in the hypothalamus  travels down the spinal cord to around the level of
T1
• These preganglionic sympathetic fibres arise from the upper segment of the thoracic spinal cord  enter the
sympathetic chain through white rami commincantes  ascend to the superior cervical ganglion  where
they synapse with postganglionic sympathetic fibres
841
• The postganglionic fibres are distributed along the internal carotid artery and its branches  the fibres
destined for the orbit travel with the ophthalmic artery
• Once in the orbit the fibres are distributed to the eye ball either by:
o Passing through the ciliary ganglion, without synapsing  joining the short ciliary nerves  which
pass from the ganglion to the eyeball
o Passing along the long ciliary nerve to reach the eye ball
• In the eyeball the postganglionic sympathetic fibres innervate the dilator pupillae muscle
ACCOMMODATION RESPONSE
• The accommodation reflex enables us to look at
and focus upon objects close to eye
• Pupillary constriction  adjust the amount of
incident light via constrictor pupillae controlled
by oculomotor nerve
• Constricted pupil  miosis
• Refracted light should focus on the retina  a
blurred image results if the focal point is in front
of or behind the retina
TECTOSPINAL TRACT
• Reflex motor adjustments in response to visual
stimuli
• Other pathways lead to regulation of pupillary
aperture regulated by state of arousal via the reticular formation dependent upon incident illumination
Practice the technique of pupil examination on a normal subject followed by patient with abnormal pupils and
interpretation of the findings
• Relevant afferent pupillary defect (RAPD)  demonstrated by the “swinging slight test”  patient’s pupil
constricts less (appears dilated) when the light is moved from unaffected eye to affected eye
o Optic nerve ischaemia, optic neuritis, compression, asymmetric glaucoma
o Central retinal artery or ischaemic central retinal vein occlusion
o Large retinal detachment
• Horner’s syndrome  presents with partial ptosis, apparent enophthalmos and small pupils  this is a
sympathetic related condition and can be caused by a
o first order neuron disease  CNS disease, cervical region, DM autonomic neuropathy
o second order neuron disease  cervical rib, Pancoast tumour, aortic/carotid aneurysm,
lymphadenopathy, apical TB and neck trauma
o third order neuron disease  ICA aneurysm, migraine and idiopathic
Diagnosed using cocaine 4% test, so the Horner’s pupil will not dilate  OR Apraclonidine 0.5% test, the
Horner’s pupil will dilate
• Third nerve palsy is another cause of pupil abnormalities  this causes ptosis, eyes ‘down and out’ and an
efferent pupil defect (dilated)  partial palsy is also possible, so a combination presents  causes include
o Brain stem  tumour, CVA or demyelination
o Skull base  posterior communicating artery, extra-dural haematoma
o Cavernous sinus  tumour, inflammation or cavernous-carotid fistula
o Orbit  tumour, inflammation or trauma
o Vascular palsy  diabetes/BP, pupils usually spared, self-limiting
o Surgical lesion  aneurysm, trauma & uncal herniation  involves the pupil by compression
842
o Medical lesion  HTN, DM  usually spare the pupil
• Adie’s pupil  enlarged pupils, absent light response and slow near response  can be unilateral or bilateral
 problem with ciliary ganglion  may be associated with reduced tendon reflexes  usually affects
younger women  uses Pilocarpine (cholinergic) to determine diagnosis, by constricted affected pupil
• Argyll-Robertson pupil  caused by neurosyphilis  causes small irregular pupils and light near dissociation
(respond to accommodation better than to light)
• Traumatic mydriasis  due to blunt trauma  causes damage to the sphincter iris muscle
• Posterior synechiae  follows intraocular inflammation (iritis)  leads to adhesion of the iris pigment
epithelium to the lens  it causes an irregularly shaped fixed pupil
843
REFRACTIVE ERRORS & VISUAL ACUITY ASSESSMENT

Interpret optometric reports, spectacle prescriptions and have a basic understanding of types of refractive error
OPTOMETRY
• Vision is the level of detail an eye can see without any aid  whereas visual acuity is the best an eye can see
with optical correction  it is measured in diotropes (D)
• The eyes cornea and crystalline lens are powerful optical lenses  with the cornea having 40D power and the
lens have 20D  if the eye has exactly 60D power and an axial length of exactly 22.22mm then the eye has
perfect vision (in theory)  this is said to be emmetropic
• Convergence is the bending of light inwards  this type of lens is a positive lens (convex)  used in far-
sightedness
• Divergence is the bending of light outwards  this type of lens is a negative lens (concave)  used in short-
sightedness
Myopia – short-sightedness Concave lens Hypermetropia – long-sightedness Convex lens
• Visual assessment  record distance vision unaided (and aided), retinoscopy (holding lenses in front of eye),
subjective refraction (patients opinion on lens power), near vision assessment and unit magnification
assessment
• Unit magnification  when holding a card at the focal length of the reading prescription in the lenses then
there is no magnification so a value of 1 is given  (magnification = power / 4)
o The patient is assessed for refraction/correction and prescription is increased by +4.00DS
o The patient views a chart at 25cm and the best visual acuity is determined at this range e.g. N10
o The patient is then asked when size is needed for desired tasks e.g. N5  hence a 2 times
magnification is needed
• With retinoscopy various lens are used to neutralise the reflection being shined in  this allows a prescription
to be calculated
• With children eye drops may be used to prevent accommodation so that child cannot change their focal
depth whilst the examination is done
• LogMAR and Snellen charts can measure visual acuity  the LogMAR test is fairer as there is an equal number
of letters per line which decrease in a logarithmic fashion  with the Snellen chart the test becomes harder
further down as there are more letters to read
REFRACTIVE ERRORS
• Ametropia means some form of refractive error  can be broken down into two main causes
o Axial Ametropia
▪ Myopia  the light comes into focus in front of the retina and the axial length is longer than
average  this can be corrected with a concave negative lens that diverges light
▪ Hypermetropia  the light comes into focus behind the retina and the axial length is shorter
than average  this can be corrected by a convex positive lens that converges light
o Refractive Ametropia
▪ Myopia  light comes into focus behind the retina and the refractive power is too high 
again concave negative lenses are used
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▪ Hypermetropia  the light comes into focus in front of the retina and the refractive power is
too low  again convex positive lenses are used
• Astigmatism  this is where an eye is not completely symmetrical  hence light rays are not evenly bent 
this creates two points of focus on the retina  a combination of cylindrical and toric lenses can be used to
correct this
• Presbyopia  the inability to focus on near objects without glasses (loss of accommodation)  this can be
corrected by positive lenses
Explain the differences between different types of contact lenses and their uses
INDICATIONS
• There are many patients for whom contact lenses are better, not just for cosmetic reasons but because they
provide the best means of visual correction:
o Visual:
▪ Anisometropia  eyes have unequal refractive powers (one sees a larger image)
▪ High myopia
▪ Aphakia  absence of lens during to surgical removal  seen in congenital cataracts
▪ Irregular cornea, scarring, keratoconus, corneal grafts
▪ Refractive surgery failure
o Occupational:
▪ Theatre
▪ Film
▪ Armed Forces
▪ Professional sports
o Cosmetic:
▪ To avoid spectacles
▪ Change eye colour
▪ Prosthetic lenses or shells
o Medical:
▪ Therapeutic
▪ Bandage
o Psychological  where the patient cannot accept wearing spectacles
o Other
▪ Sports
▪ Physical inability to wear spectacles  e.g. allergy to frame materials, physical shape of facial
features
REQUIREMENTS FOR CONTACT LENSES

• Stable accurate VA
• Good comfort throughout wear
• Easy to insert and remove
• Easy to clean / replace / reproduce
• Reasonable cost
• Maintain healthy corneal physiology
• Minimal lid interference and tear film disruption
CONTACT LENS ASSESSMENT

• First a discussion regarding the patient needs and motivation is required  then an initial refraction is carried
out to determine their spectacle prescription
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• Keratometry is used to measure the curvature of the patient’s cornea  therefore the amount of corneal
astigmatism present
• The patient is then examined on the slit lamp to check the health of the cornea, lids and tear film
• A trial lens is then chosen using all this information and inserted  the fit is assessed using various methods
 once a satisfactory fit is achieved an over refraction is performed to determine the power of lens required
CONTACT LENS AFTERCARE

• The patient is first taught how to insert and remove their lenses and advised on the correct cleaning regime
• They can then begin wear, building up their wearing time gradually
• The patient should have an aftercare appointment after 1/12 of wear to check the VA, over refraction, fit and
health of the eye
• This should be repeated at 3/12, then 6/12, then annual follow-ups if there are no problems
COMPLICATIONS
• Some problems associated with contact lens wear are:
o Giant papillary conjunctivitis (GPC)
o Corneal abrasion
o Infective keratitis
o Corneal ulcers
o Neovascularisation
o Corneal hypoxia
o Solution hypersensitivity
TYPES OF CONTACT LENSES

• Soft lenses
o Advantages  flexible, good comfort, good VA if large level of astigmatism, large diameter incurs
secure fit, safer for sport, easier to fit, suitable for extended wear
o Disadvantages  split, deposition of tears, more expensive, dehydrate if left out of solution
• Rigid gas permeable lenses
o Advantages  fixed shape and durable, fewer problems with deposits, easy to clean, good for all day
wear, smaller diameter incurs less risk of hypoxia, creates smoother ocular surface therefore better
visual result for irregular corneas and high astigmatism
o Disadvantages  poor initial comfort, small diameter so more prone to fall out
How to recognise visual acuity

• Visual acuity is dependent on optical and neural factors
o The sharpness of the retinal focus within the eye
o The health and functioning of the retina
o The sensitivity of the interpretative faculty of the brain
• Visual acuity is usually measured using a Snellen chart from 6m away  each line on the Snellen chart is given
a corresponding number  ideal vision is 6/6 – so 6m and 6 on Snellen chart  there are 4 methods of
measuring VA
o Colour vision  Ishihara chart
o Visual fields  Humphries or Hendersons charts important in Glaucoma
o Contrast sensitivity  Pelli Robson chart  useful in early cataracts
o Electrodiagnostic  electrical stimulus to observe brains response
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INTRODUCTION TO OPHTHALMOLOGY
Describe the ocular anatomy and identify different ocular regions and its supporting structures with aid of diagrams and
model of the eye
847
• The outer layer of the eye consists of the cornea anteriorly  which is continuous with the sclera
• The next deeper layer is the choroid  which is a vascular layer and joins the ciliary body anteriorly  forms
a 360 degree ring around the front of the eye
• The ciliary body holds the lens in place via the suspensory ligaments
• Anterior to the lens is the iris and pupil
• Deep to this layer is the retina that is continuous across the inner surface of the posterior of the eye and ends
at the beginning of the ciliary body
• The eye can be divided into anterior and posterior segments  with the division coming at the posterior
surface of the lens  the anterior segment can be divided into an anterior chamber (in front of the iris) and a
posterior chamber (between the iris and lens)
• The eyelids cover the outer surface of the eye and the upper eyelid is much longer than the lower lid  the
inner surface of the lids is covered by conjunctiva that is folded on to the sclera at its edges
• When the conjunctiva reflects around superiorly and inferiorly is called the fornix  the conjunctiva does not
attach to the cornea and the lacrimal glands drain into the superior fornix  deep to the conjunctiva is the
tarsal plate and superior to it is the levator palpebrae
• The anterior surface of the cornea is stratified, squamous, nonkeratinising epithelium and the posterior
surface is endothelial cells
• The bulk of the cornea is a collagen stroma with very few cells or water  this helps to maintain the clarity of
the cornea
SURFACE ANATOMY
• The lower lid should be at the junction between the sclera and iris (limbus)  whilst the upper lid should
cross the cornea by two or three mm
• Retinal blood vessels originate from the centre of the optic disc  the larger vessels (darker) are the veins
whilst the paler thinner vessels are the arteries  they branch superiorly and inferiorly and then again to give
nasal and temporal branch  the veins are generally 1.5-2 times bigger than the arteries of the same area
• Vessels tend to avoid the central area of the fovea and instead this area is nourished by diffusion from
choroidal and retinal blood vessels  this prevents interference to the light resolution
OPTIC DISC
• This should be described using the three C’s (colour, contour and cup)
• The cup is where optic nerve tissue is lost  hence the retinal blood vessels are unsupported so dip into it
• The normal cup disc ratio is less than 0.4  it should also be noted that, as in human skin colour, the fundus
too varies in colour and this is normal
Describe the physiology and function of the eye and its sensory and motor pathways
• The pathway begins in the eye where the nasal side of the eye sees the temporal field and the temporal side
of the eye sees the nasal field
• The information then passes back to the optic chiasm where 50% of fibres cross  from the inside of the eyes
– temporal fields
• The fibres then pass back towards the lateral geniculate ganglion  then through the optic radiation to the
occipital cortex
• Pupil light reflex  nerve fibres from retinal ganglion cells bypass the lateral geniculate ganglion and synapse
in the pretactile nucleus  the signal then goes to the Edinger-Westphal nucleus  some fibres cross to the
opposite side just before this to give a contralateral response  finally fibres reach the inferior division of the
3rd nerve that stimulates the pupils
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Perform assessments of vision including visual acuity and visual fields

• Observation  Inspect the eye for
o Ptosis
o Squint
o Pupil size and symmetry
• Pupillary reflex  ask the patient to look into the distance and bring the light in from the side  shine light
into R eye and look for R pupil constriction (direct)  repeat with R eye, but look for L pupil constriction
(consensual)
• Convergence & accommodation  ask patient to look into the distance and then focus on your finger held
close in front of them  the eyes should converge and both pupils should constrict
• Visual acuity  ask patient to wear their glasses or contact lenses  stand 6m from Snellen chart  cover
one eye  establish the smallest line of print that the patient can identify  if acuity reduced use a pinhole
 if eye pathology – patient can stand at 3m then 1m  if cannot read at 1m, test their ability to count
fingers, perceive hand movements or distinguish light and dark
• Visual fields  ask patient about any vision problems (eg. bumping into things)  ensure you are roughly the
same height as examiner, approx. 1m apart  repeat with both eyes
o Screening  ask patient to look into both your eyes, ensuring your hands are midway between you
and the patient  make small wiggle movement with the tips of your fingers in each of the 4
quadrants  ask the patient to point to the moving fingers
o Confrontation  ask patient to cover one eye and look into your opposing eye (cover the same eye)
 bring your wiggling fingers slowly into the field of vision noting where the patient first detects it 
start peripherally in each quadrant
• Eye movements  patient’s head in neutral position  observe for ptosis, squint or nystagmus  move
finger in a H shape in front of the patients face and ask them to follow your finger with their eyes
Understand the principles and various investigations for colour vision

• Perception of colour begins with specialized retinal cells containing pigments with different spectral
sensitivities  known as cone cells  there are three types of cones sensitive to three different spectra 
resulting in trichromatic colour vision
• The cones are conventionally labelled according to the ordering of the wavelengths of the peaks of
their spectral sensitivities
o Short (S)  blue
o Medium (M)  green
o Long (L)  red
• These three types do not correspond well to particular colours as we know them  rather, the perception of
colour is achieved by a complex process that starts with the differential output of these cells in the retina and
it will be finalized in the visual cortex and associative areas of the brain
• The RGB color model, therefore, is a convenient means for representing colour  but is not directly based on
the types of cones in the human eye
• The peak response of human cone cells varies, even among individuals with so-called normal color vision
INVESTIGATIONS
• Ishihara plates are generally used as a popular and effective way of screening for colour vision defects 
these are a series of plates which have numerous coloured dots printed on
• The normal sighted person will see numbers on the majority of plates whereas a colour blind person may
struggle to see many of them
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• Other tests are available for a more detailed analysis  such as the city university test and the Farnsworth
100 Hue test
Perform a competent clinical examination of an eye with a pen torch and a direct ophthalmoscope
PEN TORCH
• Stand to the side of the patient
• Ask them to look into the distance  not at you
• Direct and consensual pupillary reflex
o Stand on the right side of the patient
o Shine the light twice into each eye
o 1st time  check for pupillary constriction in right eye
o 2nd time  check for pupillary constriction in left eye
o Repeat the procedure starting with the left eye
• Swinging light test  shine light in one eye for 2 seconds each time  then move to other eye and hold for 2
seconds  move back to original eye and repeat  look for constriction of both pupils every time the light
shines in them
OPHTHALMOSCOPY
• Start 1/3m away from patient
• Check the largest light is being used and set the focus to green 10 (+ve)
• To view patient’s right eye use your right eye  vice versa
• To observe the outside of the eye use green 10 and move forward slower until the eye, lashes and
surrounding area comes into focus
• To observe the inside of the eye start of green 10 and move forward changing to focus until you can see the
whole of the optic disc  you should be VERY close to the patient
• Place your finger on their upper eyelid to steady yourself, give you a rough estimate for distance and to hold
the eyelid open
Interpret clinical symptoms and signs in order to make a differential diagnosis

• Conjunctivitis is not painful and there should not be corneal involvement  the borders of the sclera can be
very red and this usually originates from the edges of the eyes to centrally
• Herpes simplex keratitis actually affects the cornea and limbus  it is generally painful and very red,
especially around the cornea  there will be minimal discharge but substantial watering and blurring 
staining with Fluorescein dye will show dendrite deposits on the cornea
• Corneal opacity with vascularisation can occur if HSV is treated with steroids or not at all  this poses
problems as it increases the chance of a graft being rejected  corneal vascularisation can also occur if
contact lenses are worn for too long as oxygen is deprived to the cornea  hence blood vessels grow to
respond to the poor oxygen supply
• Iridocyclitis  marked redness that is uniform across the eye  the pupil is oval and the iris is ballooned
forward  this is because the pupil is stuck to the lens posteriorly due to inflammation  hence the aqueous
humour cannot pass through adequately and therefore the iris is pushed forward  on slit lamp examination
inflammation cells can be seen as well as a horizontal light beam
• Congenital cataracts generally only affect the centre of the lens so some red reflex can be seen around the
edges  however senile cataracts tend to obscure the entire lens
• A pale (lack of blood supply) and swollen optic disc with poorly defined margins may be a sign of giant cell
arteritis and needs treating instantly  the patient may only have perception of light and the other eye will
850
be affected within two weeks if the first eye is not treated  an ESR or CRP will confirm the diagnosis and
treatment is high dose steroids for several years
• Drusen are small focal thickenings of Bruch’s membrane  the layer that the RPE – retinal pigmented
epithelium lies  one of the earliest signs of dry macular degeneration  widespread yellow discolouration
deep to retinal blood vessels is more indicative of wet macular degeneration and there may be involvement of
the RPE producing pigmented areas
• Exudates appear as if salt/sugar has been sprinkled on the retina (well defined)  they represent lipoprotein
material that has been deposited on the retina due to fluid that has leaked from the vasculature
• Cotton wool spots are poorly defined and are micro infarcts of the nerve fibre layer of the retina
• Neovascularisation is when very fine, irregularly branching, blood vessels form on the optic disc or retina 
these develop due to retinal ischemia and are quite fragile, hence they may bleed  this is seen in
proliferative diabetic retinopathy
• Central retinal vein occlusion will appear like a yellow surface with red splashed across it  there will be a
very poorly defined, swollen optic disc as well as cotton wool spots, flame shaped haemorrhages and dilated
tortuous veins
• AV nipping is where arteries cross veins  when the arterial wall thickens this narrows the vein and causes
some degree of occlusion
Understand the importance of recognising common eye disorders and abnormalities of ocular function and describe
their management
Understand the role and relationship of the diverse team of healthcare professionals involved in ophthalmic care.
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GRADUAL VISUAL LOSS

Examine the patients with cataracts and understand its effect on a patient’s vision and lifestyle
• Cataracts  opacity of the lens  leading cause of blindness in the world
• Incidence increases with age  nears 100% at the age of 100
Identify different forms of cataract and make appropriate diagnosis by inspecting the images of cataracts given in the
lecture
• Cataract is a vision-impairing disease characterised by gradual, progressive loss of transparency of the less 
it is one of the leading causes of visual morbidity and blindness worldwide
• Timely surgical intervention makes cataract morbidity reversible  hence early detection and close
monitoring in selected cases must be observed in the management of cataract patients
ANATOMICAL CATERGORISATION
• Posterior subcapsular cataracts (PSC) lie in front of the posterior capsule  manifest as vacuolated or plaque-
like appearance  they are associated with steroid use and DM  patients have particular trouble with
bright sunlight/oncoming headlight  reading vision is affected more than distance vision
• Cortical cataracts are opacities which start as clefts and vacuoles on the cortex between lens fibres 
subsequent opacification leads to radial spoke like opacities  they are closesly related to environmental
stresses  eg. UV exposure, diabetes and drug ingestion
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• Nuclear cataracts are due to nuclear sclerosis characterised by a yellowish hue and in later stages a brownish
discolouration  they seem to have a correlation with smoking, with calcitonin and milk intake
AETIOLOGY CATERGORISATION
• Age-related cataract  constitute the majority of the various clinical types of cataracts known today  it
continues to be the main cause of visual impairment and blindness in the world at least 5-10 million new
visually disability cataracts occur yearly  incidence increases with age, so >75% of persons >75yrs have lens
opacitites and by the age of 100 the incidence is 100%  multifactorial disease, but can be exacerbated by
o Allergy o UV light
o Hyper/hypotension o Infrared radiation
o Mental retardation o Diabetes
Can be subcapsular (anterior or posterior)  these patients are particularly troubled by bright light with
reading vision affected more than distance vision (for posterior cataracts)
• Congenital cataracts  detected at birth, whereas juvenile cataracts develop during the first 12yrs of life 
both range from mild and benign to advanced and life-threatening  they are an important cause of
blindness in children  approx. 1/3 of congenital & juvenile cataracts are inherited  a wide degree of
variation is seen in the morphological characteristics of these cataracts  these can be total or partial 
partial can be
o Polar  anterior or posterior
o Zonular  lamellar, stellate, sutural or nuclear
o Membranaceous
• Traumatic cataracts  cataracts can occur secondary to trauma to the lens  where the iris is torn away
from its normal insertion causing shrinking and damage  needs to be sutured and allowed to repair before
reconstruction occurs
o Blunt trauma  often have a rosette-shape appearance or are of the PSC variety
o Penetrating trauma  the size of the opening when larges results in the whole lens may become
cataractour  when the opening is small, it may sometimes seal itself and leave behind an opacity
that is localised to the site of penetration
• Metabolic cataracts
o Diabetes  age related (appears earlier) or true diabetic cataract (snowflake opacities)
o Galactosaemia  due to GPUT deficiency  presents with oil droplet cataract
o Galactokinase deficiency  associated with lamellar opacities
If metabolic defect is detected and treated early (within 3 months) the lens changes are reversible 
Manosidosis, Fabry’s disease, Lowe’s, Wilson’s or hypocalcaemic syndromes
• Toxic
o Corticosteroids  PSC
853
o Chlorpromazine  fine yellow deposits anterior lens capsule
o Chemotherapy  eg. Buslphan
• Associated with primary ocular conditions
o Uveitis  anterior, cytomegalovirus, toxoplasmosis, rubella
o Hereditary retinal degenerations  retinitis pigmentosa, Gyrate atrophy, Stickler’s syndrome
o High myopia  Glaucomflecken – small grey whit anterior subcapsular cataract
o Post-surgical  glaucoma, parsplana vitrectomy
• Associated with systemic disease
o Cutaneous disease  congenital ectodermal dysplasia, Werner’s & Rothmund-Thomson’s syndrome
and atopic dermatitis (no eye lashes and swollen eyelids)
o Connective tissue/skeletal disorders  myotonic dystrophy (Christmas tree pattern), Conradi’s,
Stickler’s and Marfan’s syndromes
o Central nervous system  Marinesco-Sjorgren’s syndrome and neurofibromatosis type 2
o Down’s syndrome
• Cataracts can also be divided by their maturity
o Immature
o Mature  cortex completely opaque
o Hyper-mature  small and wrinkled lens material due to leaking out of material
CLINICAL FEATURES
• Decreased visual acuity  a patient with age related cataract often presents with a history of gradual
progressive deterioration and disturbance in vision  a mild degree of PSC can produce a severe reduction in
visual acuity with near acuity affected more than distance vision  however, nuclear sclerotic cataracts often
are associated with decreased distance acuity and good near vision
• Glare  this complaint may include a decrease in contrast sensitivity in brightly lit environments or disabling
glare during the day to glare with oncoming headlights at night
• Myopic shift  frequently increase the diopteric power of the lens resulting in a mild-to-moderate degree of
myopia  this so-called second sight in presbyopic patients is associated with nuclear sclerotic cataract
• Monocular diplopia  when nuclear changes are concentrated in the inner refractile area in the centre of the
lens may lead to monocular diplopia
INVESTIGATIONS
• A diagnosis of cataract is made from history and slit lamp examination  laboratory tests are requested to
detect and managed co-existing diseases before surgery
• Ocular B-scan ultrasonography is requested when a posterior pole pathology is suspected and an adequate
view of the back of the eye is obscured by the dense cataract  this is helpful in palnning out the surgical
management and providing a more guarded post-operative prognosis for the visual recovery of the patient
• Careful refraction must be performed on both eyes in planning the IOL to be implanted
• An accurate biometry (axial length and keratometry) should be performed to calculate for the IOL power to be
used  the power of the IOL on the operated eye must be compatible with the refractive error of the fellow
eye to avoid complications  eg. post-operative anisometropia
• Corneal integrity, specifically the endothelial layer, must be assessed very well through slit lamp examination
 if necessary pachymetry and specular microscopy to predict post-operative corneal morbidities to weigh
the risks vs. benefits of performing cataract extraction  eg. corneal oedema or corneal decompensation
Observe a cataract operation performed and be aware that implant surgery can also be used to correct for refractive
errors at the same time
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• Medical care  no proven medical treatment exists to delay, prevent or reverse the development of
cataracts  aldose reductase inhibitors, sorbitol-lowering agents, aspirin, glutathione-raising agents and anti-
oxidant vitamins C & E are all being investigated
• Surgical care  the definitive management for cataract is lens extraction  surgical techniques have evolved
from the ancient method of coughing to the present-day technique of phacoemulsification  almost parallel
to the surgical technique is the evolution of IOLs being used
o Intracapsular cataract extraction (ICCE)  technique was popular prior to the onset of more modern
microsurgical instruments and IOLs  the larger limbal incisions and subsequent risk of delay in
healing, visual rehabilitation, significant astigmatism, post-operative would leaks, post-operative
cystoid macular oedema (CME), retinal detachment and post-operative corneal oedema made it
unpopular  ICCE is now resereved in cases where zonular integrity is impared severely to allow
successful lens removal and IOL implantation in ECCE
o Extracapsular cataract extraction (ECCE)  involves the removal of the lens nucleus through an
opening in the anterior capsule with retention of the integrity of the posterior capsule  a smaller
incision leads to less trauma to the corneal endothelium, better anatomic placement of IOL (within an
intact posterior capsule), reduces the incidence of CME, retinal detachment, endophthalmitis
o Phacoemulsification (PE)  both ECCE and PE are similar in that extraction of the lens nucleus is
performed through an opening in the anterior capsule or by anterior capsulotomy followed by
irrigation and aspiration of cortical material and placement of the IOL in the posterior capsular bag 
PE uses smaller incisions, affording more rapid would healing and faster visual rehabilitation  a
relatively closed system allows a better control of IOP, safeguards against +ve vitreous pressure and
choroidal haemorrhage
• When considering surgery the following should be thought about
o Degree of disability o General health
o Patient’s opinion o Age  not a contraindication
o Best correct visual acuity o No need to wait until the cataract
o Coexisting ocular pathology ‘matures’
• It is also important to calculate the biometry of the lens needed for each patient  this is largely based on the
corneal diopteric power, axial length of the eye and IOL formula  most patients are made slightly myopic to
enable some reading vision
• Cataract operation is the most common operation done on the NHS and is mostly done by
phacoemulsification  intra/extra capsular extraction are becoming rarer  this involves a corneal incision,
capsular tear, trenching and removal of nucleus with ultrasound tip plus irrigation and finally insert lens and
visco-elastic substance
o Posterior capsule opacification (20%)
o Vitreous loss (4%)
o Retinal detachment (1%)
o Endophthalmitis (0.1%)
• Acute bacterial endophthalmitis presents as pain and marked visual loss with an absent or poor red reflex 
there is corneal haze, hypopyon and exudates and this is largely caused by Staph epidermidis, Staph aureus
and Pseudomonas sp  treated with intravitreal antibiotics
• Investigations  Ocular B scan is requested when a posterior pole pathology is suspected  but the view is
obscured by a dense cataract
Inspect the fundus images of macular degeneration and examine patients with different types of age related macular
degeneration
855
To assess a patient with macular degeneration and evaluate the effects of this disease on a patient’s life and know how
patients may be helped to cope with poor vision
• Macular degeneration typically affects patients over 70, but can occur at a younger age  there are 15
million sufferers in the USA and 2 million in the UK
• Dry type  gradual reduction in central vision with problems reading and recognising faces  the presence
of drusen and retinal pigmentary atrophy are common  there is no form of treatment to restore vision and
patients are required to make use of low visual aids to cope with their disability
• Wet type (10%)  rapid loss of central vision and may start with distortion of central vision
(metamorphopsia)  this progresses to a central scotoma and this can cause a profound handicap  it
occurs as a result of new vessels growing from the choroid into the macula region of the retina causing retinal
elevation which may be associated with retinal haemorrhage and oedema
• Treatment is largely unsatisfactory but laser photocoagulation may help  PDT therapy looks promising and
there are many other treatment under development
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GLAUCOMA
Describe the clinical features of different types of glaucoma including the changes in the optic disc
• The aqueous fluid is produced by the ciliary bodies  secreted into the posterior chamber (50% diffusion and
50% active secretion)  enters the anterior chamber and drains via the trabecular meshwork (a 360 degree
ring where blockage most often occurs) into the canals of Schlemm  then to the collecting channels and
finally into the venous system
• The average intraocular pressure (IOP) is 15.5  with a maximum of around 21 before damage becomes a
risk  however damage may occur from pressures within the normal range
PROGRESSIVE OPEN ANGLE GLAUCOMA

• Progressive open angle glaucoma is the commonest cause of treatable blindness after cataracts in the
developed world  1% of >40yrs and 5% of >75yrs are affected
• Risk factors include
o Raised IOP
o Family history  most important
o Myopia
o Black race
o Diabetes
• Pathology  raised IOP +/- vascular factors lead to a loss of retinal nerve fibres and optic disc excavation
(cupping)  this leads to visual field defects, tunnel vision and blindness
• This is an asymptomatic disease and doesn’t present until a patient is almost blind  screening is available to
detect early cases  usually the condition is asymmetrical with one eye leading the way
• Regular assessment should include IOP readings, visual fields analysis and optic disc examination (fundoscopy)
• Signs include a high level of cupping and optic disc atrophy (blurring of borders)  the cup to disc ratio should
be largest inferiorly then superiorly, nasal, temporal (ISNT)
ACUTE ANGLE CLOSURE GLAUCOMA

• Acute angle close glaucoma is an acute high pressure eye with pain, blurred vision and vomiting  signs
include
o Corneal oedema
o Red eye
o A fixed mid-dilated pupil
• The biggest risk factors are hypermetropia and a family history
• The lens gradually grows bigger with age and pushes the iris closer to trabecular meshwork  at a critical
point the iris will completely block off the trabecular meshwork so drainage will cease but production of
aqueous will continue
• Going to bed may help as the pupil constricts and the iris pulls away from the trabecular meshwork  hence
patients may have symptoms for several weeks before the full blown attack
857
• Treatment is pilocarpine & acetazolamide, laser iridotomy or trabeculectomy
RUBEOTIC GLAUCOMA
• Rubeotic glaucoma follows central retinal vein occlusion or diabetic retinopathy
 new vessels form and occlude the angle  although this is rarer now
• Symptoms include pain and reduced vision  whilst signs include
o Red eye
o Corneal oedema
o Rubeosis
o Pupil distortion
Diagnose glaucomatous changes in the optic disc on ophthalmoscopic examination

PROGRESSIVE OPEN ANGLE GLAUCOMA
ACUTE ANGLE CLOSURE GLAUCOMA
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Interpret the visual fields and make appropriate diagnosis

• The bottom of the retina corresponds to the superior visual field
• Early field loss values
o IOP >30  blind in 3 years
o IOP 25-30  blind in 6 years
o IOP 21-25  blind in 15 years
• Visual field testing can be mapped using Goldmann perimetry or automated perimetry
• The Goldmann perimeter is a hollow white spherical bowl positioned a set distance in front of the patient 
an examiner presents a test light of variable size and intensity  the light may move towards the centre from
the perimeter (kinetic perimetry), or it may remain in one location (static perimetry)  the Goldmann
method is able to test the entire range of peripheral vision, and has been used for years to follow vision
changes in glaucoma patients  however, now automated perimetry is more commonly used
¼ LOSS
NORMAL
• Automated perimetry uses a mobile stimulus moved by a perimetry machine  this method is commonly
used for early detection of blind spots  the patient sits in front of an (artificial) small concave dome in a
small machine with a target in the centre  the chin rests on the machine and the eye that is not being
tested is covered  a button is given to the patient to be used during the exam  the patient is set in front
of the dome and asked to focus on the target at the centre  a computer then shines lights on the inside
859
dome and the patient clicks the button whenever a light is seen  the computer then automatically maps
and calculates the patient's visual field
Describe the different therapies for glaucoma and their side effects, the importance of patient compliance and the
consequences of delayed diagnosis and treatment failure
POSSIBLE TREATMENTS FOR GLAUCOMA
• Aim of treatment is to lower IOP
• Medically  use eye drops to lower IOP
o Prostaglandin analogues (latanoprost)
o Beta blockers (timolol)  slows down aqueous production
o Carbonic anhydrase inhibitor (dorzolamide)  slows down aqueous production
o Alpha agonist (brimonidine)  slows down production and increases outflow
o Cholinergic (pilocarpine)  increases outflow
• Tablets can be used  carbonic anhydrase inhibitors
• Laser  argon/selective laser trabeculoplasty  where 50-100 shots are delivered around the trabecular
meshwork to try to increase drainage  this can be used in most age groups and even as a primary treatment
 this requires an open angle
• Surgery  trabeculectomy  creates a controlled fistula where aqueous leaks out under the conjunctiva 
leaves a bleb in the eye  the success rate is 50-90% with an IOP  risk factors for failure include
o Previous surgery
o Black race
o Long term topical medications  especially pilocarpine
o Co-existing uveitis  past or present
o Diabetes  especially with retinopathy
SIDE EFFECTS
• Side effects can lead to poor compliance  possible complications
o Beta blockers  cardiac and respiratory effects
o Alpha agonists  dizziness, syncope and allergy
o Prostaglandin analogues  lash growth, pigmentation
o Cholinergic  eye ache, dim vision
o Carbonic anhydrase inhibitors  taste problems, acidosis
ADVANCES IN TOPICAL MEDICATION

• Longer acting agents  Timolol LA, Nyogel
• Combination agents
o Prostagladin analogue & beta blockers
o Alpha agonist & beta blockers
o Carbonic anhydrase inhibitors & beta blockers
• Preservative free drops
o Beta blockers
o Carbonic anhydrase inhibitors
o Cholinergic
o Alpha agonist
ADVANCES IN GLAUCOMA SURGERY

• Anti-metabolites  5FU and mitomicin (chemotherapy)
• Laser suture lysis/releasable
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• Microtrabeculectomy
• Phacotrabeculectomy  deep sclerectomy/viscocanalostomy
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OCULAR TRAUMA
Conduct history taking and examination in patients with ocular trauma
• A thorough history is important  which includes the mechanism of trauma  possible mechanisms include
o Foreign body
o Chemical injury
o Blunt trauma
o Penetrating trauma
• Assessing visual acuity is key, as well as ophthalmoscopy  complete an appropriate systemic examination
and finish with investigations/imaging
To study the general mechanisms by which ocular trauma is sustained

FOREIGN BODY
• A foreign body should be obvious from the history  will give sudden onset irritation and photophobia
• It is important to check under the eyelid  always beware the penetrating injury
CHEMICAL INJURY
• Chemical injury of the ocular surface can be serious  may cloud the cornea
• Treatment is needed urgently which includes irrigation with saline (several litres)
• It is also important to determine what type of substance is involved and if acidic or alkaline (much worse than
acid)  both eyes should have their pH checked for comparison and finally antibiotics, vitamin C, steroids and
mydriatics (pupil dilation) may be used
BLUNT TRAUMA
• Blunt trauma is common and can lead to periorbital haematoma and associated sub-conjunctival
haemorrhages
• There may also be hyphaema (blood in the anterior chamber)  which should be taken seriously as it is an
indication of serious trauma  blood cells from the hyphaema can block the drainage angle and cause acute
glaucoma (severe pain and loss of visual acuity)  treatment for hyphaema is topical steroids (reduce
inflammation) and a mydriatic (dilate pupils)
• Other complications of blunt trauma are traumatic cataracts or even subluxation/dislocation of the lens due
to rupture of the zonules
• A retinal tear or detachment may also develop, if the trauma is severe  requires immediate surgical
intervention (especially a detachment)
• Extremely severe blunt trauma can cause extensive retinal haemorrhages and potentially cause acute retinal
necrosis  the haemorrhages may result in decreased visual acuity and permanent damage to the retina 
there may also be the risk of a vitreous haemorrhage which can need surgical intervention if the blood does
not clear
• Blow out fractures occur after blunt trauma  the globe is weakest at its orbital floor so increased force on
the orbit may force the eye through the floor and into the maxillary sinus  this can cause restriction of eye
movements, periorbital swelling and potentially ocular damage  the inferior rectus muscle can become
trapped and become ischemic if pressure is not released
• When an orbital floor fracture is suspected then an x-ray should be done to check for opacification of the
maxillary sinus  however, a negative finding does not exclude an orbital floor fracture so a CT scan may be
needed for conclusive evidence
PENETRATING INJURY
• Penetrating eye injuries may lead to an intraocular foreign body  so a detailed history is very important to
determine the exact mechanism of trauma
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• The patient may not have their vision affected if minor and foreign bodies are not always present  most of
the time patients present with irritation or foreign body sensation
• The risk of infection is generally small but can still predispose to a sight threatening infection
• An intraocular foreign body can usually be detected by an x-ray although a CT scan may be needed for
positioning or if the foreign body is particularly hard to spot
To know the relevant aspects of the ocular examination and relevant investigations required in a patient with ocular
trauma
• This is covered in the individual traumas above.
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LOW VISION & VISUAL REHABILITATION

Explain optometric reports, spectacle prescriptions and have a basic understanding of types of refractive errors and
diagnostic tests
CHILDREN
• 5% of patients are children  the main causes in children are
o Congenital cataracts
o Optic atrophy
o Albinism
o Buphthalmos
o Myopia
o Retinopathy of prematurity
• Congenital cataracts  these are harder to spot as the child cannot tell you they can’t see  however the
parents should notice over the next few weeks and photos may help with this  with children the lens cannot
be replaced so they lens is removed through a similar surgery to adults but nothing is replaced (aphakic) 
hence glasses or contact lenses are needed to help stimulate visual development and the prescription will be
fairly strong
• Buphthalmos is congenital glaucoma  which may be present due to a congenital abnormality that that
blocks the drainage of aqueous  the child’s eye is also more flexible so can expand slightly and this will
appear bigger to an observer  most infants are born slightly hyperopic but those born myopic tend to
become more myopic with age as the eye tends to elongate with development  this may need managing
with lenses or glasses but resolution will still be worse than others, even with correction
• Children have higher amplitudes of accommodation than adults  aphakic patients will require reading
prescriptions as well as possibly having special education needs  it is important to report LV to local council
education department, as well as having support teachers in school
ADULTS
• Adults make up the rest of the patients and 25% of these are in the employable age group  the main causes
of poor vision in this group are
o Diabetic retinopathy
o Myopia
o Uveitis
o Corneal dystrophies
o Macular degenerations
o Retinitis pigmentosa  causes poor vision in dull lighting and a reduction in visual fields but acuity
may be unaffected
• The retired/elderly make up 70% of LVA patients and the major causes here are
o Age related macular problems  dry and wet
o Glaucoma
o Inoperable cataracts
o Diabetic retinopathy/maculopathies
VISUAL ASSESSMENT
• Identify diagnosis and assess patient’s understanding of the condition and prognosis  also identify the
patient’s practical needs and expectations
• Several parameters need to be recorded
o Distance vision unaided (and aided)
o Retinoscopy  holding lenses in front of eye
864
o Subjective refraction  patients opinion on lens power
o Near vision assessment
o Unit magnification assessment
Explain the differences between soft and rigid gas permeable lenses and give reasons behind the specific use of these in
the Hospital Eye Service
• This is covered in refractive errors and visual acuity learning objectives
Explain the types and application of different types of LVAs as issued in the Hospital Eye Service
• For adults • For children
o Hand magnifiers o Bar magnifier
o Stand magnifiers o Dome ‘bright’ magnifier
o Illuminated HM/SM o Bifocals
o High reading aids  strong glasses o Distance binoculars/monoculars
o Binoculars/monoculars
o Spectacle mounted devices
• Non-optical devices: • Electronic devices
o Talking books/watches o CCTV
o Large print o Compact devices
o Typoscope  black card that masks o Software
background of page o Voice activated devices
o Bump-ons  sticky pad o Screen/scanner readers
o Illumination o Braille keyboard
o Tinted lenses
o Kitchen aids
o Teverse contrast text
• General referral GOS 18 form  used by optometrist to relay information to the GP and hospital eye service
 the form can be used for referral or information purposes  implies transfer of responsibility to GP
• The optometrist is legally meant to write to a GP, no matter what the findings, if an eye test has been
performed  section one is by the optometrist (sight test details, disc appearance/IOP/visual fields) and
section two by the GP (PMH & SH, BP/urinalysis/provisional diagnosis)
• Referrals can be for
o Sign of injury
o Disease or abnormality
o Treatment or further investigation
o Unsatifactory level of VA even with corrective lenses
• It will also contain information regarind screening and monitoring of diabetics and glaucoma
• Specific referrals
o LVI  letter of visual impairment  designed for optometrists & clinicians outside hospital
o RVI  referral of visual impairment  used by non-ophthalmic staff to allow access to social services
without being PSR/registered blind
o CVI  certificate of visual impairment
• Visual impairment  a person who is substantially or permanently handicapped by defective vision caused
through congenital defect, injury or illness
• General guidelines suggest VA 3/60 to 6/60 or up to 6/24 with moderate field contraction or VA 6/18 or
better if severe visual field loss
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• Severe visual impairment  so blind they are unable to perform work for which sight is essential  VA less
than 3/60 or VA 3/60 to 6/60 with constricted visual fields or VA 6/60 to 6/24 with very constricted fields
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ACUTE PAINLESS LOSS OF VISION

Perform examination, history taking and presentation of a patient with APLV
• Things to include in an ocular history of APVL
o Previous ocular history
o Cardiovascular disease
o Family history of eye disease, drugs and eye drops
o Symptoms  monocular or binocular
o Time of event, method of becoming aware of symptoms  eg. covering other eye
o Change in symptoms and associated symptoms  eg. flashes and floaters
o Duration/recovery
o Visual loss  general, central & associated field, peripheral only, global effect on function
• Examination should include testing acuity in both eyes and visual fields  central only, central & peripheral
loss, altitudinal, haemianopia
• Also check pupil reactions, anterior segment, red reflex and fundoscopy  investigations will vary but blood
tests and imaging are the main forms (CT & MRI)
Describe different types of APVL commonly found in clinical practice, their investigations and management (as indicated
on Moodle)
MONOCULAR CAUSES
• Acute corneal disease  is usually painful but can rarely be painless (HSV) and gives a cloudy cornea
• Anterior chamber haemorrhages  are rare and cause a hyphaema  these usually occurred previously with
more primitive intra ocular lenses
• Uveitis glaucoma haemorrhage  another cause due to surgery but is rare.
• Acute cataract  rare but can occur overnight  this can occur due to being struck by lightning  an acute
cataract can also occur over weeks if the lens becomes porous and takes in fluid
• Vitreous haemorrhage  more common and will cause acute disturbance of vision with substantial visual loss
if fairly dense  common causes are proliferative diabetic retinopathy, retinal tears and posterior vitreous
detachment
• Optic neuritis or ischaemic optic neuropathy (sectoral or global)  the importance is cranial arteritis 
presents with acute visual loss, aged over 60, has a headache, pain on chewing and combing hair, raised ESR
etc  can present with colour vision loss (red)
• In ischaemic neuropathy the visual defect never crosses the midline unless there are multiple pathologies  a
loss of lower vision will show pallor in the superior aspect of the optic disc
• Haemorrhage  affects retina (80%) and optic nerve (20%)  causes sudden loss
ACUTE CORNEAL DISEASE ANT CHAMBER HAEMORRHAGE OPTIC NEURITIS

RETINAL CAUSES
• Occlusion of the vein is the most common compared to arteries  veins present with haemorrhage, while
arteries does not
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• Vein occlusion does not affect vision that badly (mild to moderate vision loss)  will get better with time, but
may not completely back to normal
• Branch retinal vein occlusion  is a variable degree of central vision on waking in the morning
Examination will show nothing except retinal signs  variable degree of haemorrhage with cotton wool spots
that are limited to one sector of the retina
Commonest causes are high BP and irregular things in the blood  so test ESR, FBC and glucose
This is not an emergency so refer to outpatients  diagnosis is generally not good, if extensive, and there is
the risk of development of new blood vessels in the future (i.e. in diabetic retinopathy)  if it is mild then
there is a generally good prognosis resolution and development of collaterals
• Central retinal vein occlusion  again is present on waking but affects all of vision and not just the central part
 acuity will vary from 6/6 to CF and may have RAPD if severe  there are variable retinal signs from a few
haemorrhages to extensive haemorrhages
The opposite eye should be examined for the optic disc to check for raised IOP
Investigations include BP, bloods and IOP  referral should be to eye casualty as new treatments are
beneficial in the early stages
Complications  permanent severe visual loss and Rubeotic glaucoma  rubeosis occurs, which is the
development of new vessels on the iris, and block the drainage angle
Pan retinal photocoagulation is needed to stop the new blood vessels forming  an RAPD is a good sign of
this risk
• Central retinal artery occlusion  can lead to an absolute loss of vision down to no perception of light  it is
important to ask the patient if they have had previous events where the vision has temporarily gone  they
may describe it as a curtain going down over the eye
The acuity will be counting finger to NPL and there will be an APD or RAPD depending on visual perception
Signs include retinal oedema, cherry red spot in the macula, emboli in the retinal arterioles and carotid bruits
on neck  investigations include BP
Treatment in primary care includes rebreathe into paper (not plastic) bag to raise CO2 and dilate vessels to
move emboli  ocular massage may help remove the emboli
In secondary care an ESR (for arteritis), carotid ultrasound and cardiac echo should be done  treatment
here is similar and includes using acetazolamide and paracentesis (needle to lower IOP suddenly)  refer to
eye casualty as max 12 hours until retina dies.
• Branch retinal artery occlusion  occurs at any time and can be sectoral or central
Acuity is from 6/5 to CF and may have RAPD, carotid bruits, field defects and an embolus on fundoscopy 
may also be signs of hypertensive retinopathy (AV nipping and flame shaped haemorrhages)
Investigations include BP, carotid ultrasound, bloods and cardiac echo  referral should be to eye casualty for
confirmation and onward referral for investigations and treatment
• Retinal detachment/vitreous haemorrhage  provides a history of floaters and flashes followed by field loss
Acuity is normal if macula is attached but may have a field loss of variable pattern depending on amount of
retina detached  if sufficient retina is detached then there will be a RAPD  the red reflex will be abnormal
Nothing should be done in primary care and referred directly to eye casualty
This all occurs due to the aging process, particularly in short sighted eyes  the vitreous becomes degenerate
with age and breaks down into pockets of fluid (from gel) and these coalesce  at some point the vitreous
detaches from the posterior of the eye (it is very well attached anteriorly so will not come off here)  this
brings with it some tissue from the optic nerve head and may cause a vitreous haemorrhage
In most people this is a benign event and the floaters will settle  however, in some cases the retina may be
torn if there is an abnormal attachment  here fluid from the vitreous can get through the tear and peel off
the rest of the retinal epithelium  this occurs particularly quickly if they are superiorly (gravity) but may be
slow if inferiorly (weeks to years)  on the red reflex part of it will be disturbed by the retina
868
• Macular haemorrhage (AMD, diabetic retinopathy and macroanneurysm)  will present with a history acute
visual loss and distortion with a positive scotoma (black blob)
Acuity can vary from good to poor and there will be no RAPD in the absence of other eye disease as the
remaining retina can still fire
The peripheral field will be good and on fundoscopy there will be a variable amount (minor to massive) of
central haemorrhage
There may also be signs of primary disease  investigations should include BP and referral should be to eye
casualty
BINOCULAR CAUSES
• The optic chiasm can have pathology which includes pituitary tumours (pituitary apoplexy – a rapidly
expanding pituitary tumour)  these can be painless  on observation the eye may look fine but there
should be a bilateral afferent pupil defect
• The optic nerve can be affected by infiltrative diseases, severe papilloedema and optic neuritis (such as
sarcoid)
• Cortex  migraine which is more common with age (35+) (temporary – scintillating scotoma just off to left or
right of central vision) or CVA (occipital lobe – homonymous hemianopia)
869
ACUTE RED EYE

Recognise the different causes of ‘red eyes’ and their management
HAEMORRHAGE
• Haemorrhage can be subconjunctival or retrobulbar  it is usually subconjunctival and the posterior edge of
the blood patch is visible  occasionally it may be retrobulbar and the posterior edge is not visible
• Ptosis, restricted eye movements, raised pressure and pupil reaction are all complications of retrobulbar
haemorrhage  can lead to optic nerve compression and blindness (emergency)
• Subconjunctival haemorrhage  usually innocuous and happen in all patients  they occur after surgery,
during increased pressure (breathing disorders or URTI), patients on aspirin or warfarin and sometimes it is
due to trauma  they are asymptomatic when it happens but a sharp pain may be felt  they can then tract
down and shift with gravity
• Retrobulbar haemorrhage  very homogenous red discolouration and red vessels are not visible  the
posterior border is not visible  the main cause is iatrogenic (injection of anaesthetic) and the second main
cause is trauma (head injury or optic floor fracture)
SUBCONJUNCTIVAL HAEMORRHAGE RETROBULBAR HAEMORRHAGE
CONGESTION
• Haemorrhage due to congestion/vascular engorgement  this can be
o Localised  such as with episcleritis and phlyctenular conjunctivitis
o Generalised  as with conjunctivitis, keratitis, uveitis and acute glaucoma
• Episcleritis is a localised inflammation of the episcleral tissue which is usually autoimmune / immune based in
nature  common in collagen vascular disease and rheumatoid arthritis  the pain is mild and does not
affect sight  it can be treated with non-steroidal or steroidal eye drops or even NSAIDS  if pain is severe
then the infection is more likely to be scleritis which is more severe
• Generalised congestion can be split to two broad types:
o Conjunctival congestion
o Ciliary/circumcorneal congestion
• Conjunctival congestion  in the conjunctival fornices and are superficial vessels  the colour is bright red
and will blanch with topical vasoconstrictors  it will move with conjunctival folds and there is centripetal
blood flow (from periphery to cornea)
870
• Ciliary/circumcorneal congestion  is predominantly around the cornea  it originates from deeper anterior
ciliary vessels and hence is dusky red in colour  it will not blanch with vasoconstrictors or move with
conjunctival folds  the blood flow is centrifugal (from cornea outwards)
CILIARY CONGESTION
LOCALISED CONJUNCTIVAL GENERALISED CONJUNCTIVAL

CONGESTION CONGESTION
To distinguish the different causes of a red eye and know e.g. different features between a viral, chlamydial and
bacterial conjunctivitis
Viral (very contagious) Bacterial Allergic
Gritty eyes Gritty eyes Itchy eyes
Water discharge Purulent Stringy discharge
discharge
Follicles (lower fornix)– small, dome- Papillae (upper fornix) – cobblestone
shaped nodules without a prominent - arrangement of flattened nodules with central
central vessel vascular core
Lymph nodes Lymph node No lymph nodes
• Note that lymph drains to the pre auricular nodes from the lateral half of the eye and to the submandibular
glands from the medial half of the eye
• The commonest cause of neonatal conjunctivitis is gonococcal and is very serious  this can lead to blindness
if not treated  in the western world Chlamydia is the commonest cause of this
• Chlyamydial conjunctivitis  take swabs for bacteria & chlamydia  it is a systemic condition, and therefore
patients to be referred to GUM  consider in younger patients
PAPILLAE
FOLLICULE
Describe various common viral corneal infections such as herpes simplex keratitis and adenoviral conjunctivitis
• Any form of corneal involvement will give a triple response  blanching, dilation and exudation
871
• The cornea is avascular but extremely sensitive  so the vessels around the cornea will show dilation  this
may be a foreign body, trauma or keratitis (viral, bacterial or immune mediated)
• Causes of Trauma
o pH
o Lids  evert
o Conjunctiva  haemorrhage or laceration
o Cornea  abrasion, laceration, limbal ischaemia
o AC  cells, hyphaema
o Pupils  traumatic mydriasis
CORNEAL
o Vitreous  vitreous haemorrhage
ABRASION
o Function  optic disc trauma, retinal haemorrhages,
commotion, retinal break/detachment/dialysis
• Herpes Simplex Keratitis  a dendritic ulcer is squiggly and branching in appearance and is a sign of this 99%
of time  it is the most common cause of infectious corneal involvement in the western world  treatment
is with acyclovir ointment  the problem is the body mounts an immune response to the antigen so the
condition keeps coming back  this is usually unilateral and needs treating with steroids
• Chronic ulcers are associated with tissue necrosis in the epithelium or underlying stroma  they do not have
to be infective but can be very red with blood vessels growing into the centre  poor contact lens hygiene
can cause this
• Hypopyon is a level of sterile pus from the iris that is due to toxins released from the ulcer  this builds in the
anterior chamber and is visible to the naked eye
• Uveitis  inflammation of the iris and ciliary body  produces keratic precipitates (deposits of cells on back
of cornea), constricted pupil, synechiae (iris adhesion to lens or cornea) and is usually unknown aetiology 
treatment is to dilate the pupil here (opposite to what the disease does) along with a steroid (immune
mediated)  dilation of the pupil may reveal papillary adhesions
• Acute angle closure glaucoma  causes headache, nausea, vomiting, reduced vision, halos, red eye, corneal
haze (oedema) and a fixed mid-dilated pupil.
Sign Conjunctivitis Keratitis Uveitis Acute Glaucoma

Vision Normal Impaired Impaired Poor
Redness Conjunctiva Ciliary Ciliary Ciliary
Pupils Normal Constricted Constricted Dilated
Discharge Yes Yes No No
Pain Discomfort Moderate to severe Ache Severe
HERPES VIRUS KERTITUS
UVEITIS
Understand the adverse effects of topical steroid therapy on herpetic corneal infections
872
• Treating the immune manifestations of the virus with steroids will dampen the immune system and increases
the risk of herpes re-infection  hence use acyclovir with steroids
873
NEURO-OPHTHALMOLOGY
List and discuss important causes of optic disc swelling
• In optic disc swelling the disc margin is ill defined with haemorrhages at the edge  the disc itself remains
pink and the cup is not enlarged but can be hard to see
• Differentials of an optic disc swelling are
o Optic neuritis
o Papilloedema (has to be bilateral)
o Malignant hypertension
o Arteritic anterior ischaemic optic neuropathy
o Non-arteritic anterior ischaemic optic neuropathy
• Optic neuritis  produces a swollen disc and the margin is blurred with a pink colour and normal cup  the
patient (young to middle age) will complain of blurring of vision and a dull ache, especially on eye movement
On assessment visual will be reduced centrally along with para-central scotoma or an enlarged blind spot  if
the inflammation of the optic nerve is further back then the optic disc may not be swollen  retrobulbar
neuritis
There is a RAPD and a desaturation of red colour vision  there is the risk of other transient neurological
symptoms such as an increase in blurring with exercise, or a tingling sensation in the fingers or toes  there is
a risk of MS if this is a repeat episode so an MRI is needed
• Papilloedema  means swelling of the optic discs due to increased intracranial pressure (therefore must be
bilateral)  the only occasion that it may be unilateral is if the patient has developed optic atrophy in one eye
previously  the patient will complain of transient blurring of vision and may also have headaches  retinal
signs may include
o Splinter haemorrhages
o Exudates
o Cotton wool spots
o Retinal folds
There will be bilaterally enlarged blind spots (early) and a gradual progressive field loss (late) (generalised
constriction)  eventually there are irreversible atrophic changes
• Arteritic anterior ischaemic optic neuropathy (AION)  means there is inflammation of the arteries to the
optic disc which causes infarction  this is giant cell/temporal arteritis where inflammation of the temporal
arteries causes occlusion of the vascular supply to the optic nerve and it hence gets infracted  before this
happens there will be a temporal headache, jaw claudication (due to jaw ischemia) and scalp tenderness (on
affected side)
The patient may lose weight and will have aches all over the body  visual loss is caused by an inflammatory
infarction of the posterior ciliary artery  ESR and CRP are significantly raised
Urgent high dose steroid (1-1.5mg per kg but usually 80mg) treatment is needed or the other eye will go in 2-
3 weeks  a temporal artery biopsy is needed within one week of starting treatment to give a conclusive
diagnosis (giant cells)  treatment should continue for at least 2 years
On fundoscopy the disk is pale/white and the margins are blurred  the cup is obliterated and will not be
seen  the rest of the fundus may also have some pallor
• Non-arteritic anterior ischaemic optic neuropathy  caused by a swollen artery, usually due to atherosclerosis
 this causes obliteration of the lumen of the posterior ciliary arteries and the optic nerve gets infracted 
however the swelling is not as gross as with giant cell arteritis and the visual impairment is usually not as
extensive  usually only half the disc gets infracted (top or bottom)
• ESR is not raised as it is non inflammatory  50% of patients will be hypertensive and many other patients
will be diabetic  there are no systemic symptoms  treatment here is low dose aspirin
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• Optic atrophy  means the optic nerve is atrophic and pale  there is loss of the surface capillaries of the
optic disc and it is associated with a RAPD  anything that causes a disruption of the blood supply to the
optic nerve, or compression of it, will produce optic atrophy
Describe the actions of the extraocular muscles and their involvement in cranial nerve palsies
• There are six extraocular muscles  4 are controlled by the CN III (SR, MR, IR and IO), 1 is controlled by the
CN IV (SO) and 1 is controlled by the CN XI (LR)
• Third nerve palsy  affects the SR, MR, IR, IO, levator palpebrae superioris and intraocular pupil muscles 
the SO and LR are spared so the eye will look down and out  there will be ptosis, a dilated pupil (efferent
defect) but no APD
• Fourth nerve palsy  affects the SO  eye is unable to look down and in on the affected side  hence
vertical diplopia is most marked on looking down and in  bilateral cases may occur with head injury
• Sixth nerve palsy  affects the LR  this causes an inability to abduct the affected eye so it may drift to the
medial side
• Seventh nerve palsy  this supplies the muscles of facial expression including those that close the eye 
hence a palsy here means the affected eye cannot be closed and tear coverage will be reduced  this causes
a dry cornea and exposure keratitis  corneal sensation should be tested along with Bell’s phenomenon -
patient’s eyeballs roll up when eyes are closed to protect cornea (normal)
Outline the anatomy of the pupil reflex pathways and common abnormalities associated with the same
• Pupils can have various pathologies  this is covered in earlier learning objectives
o RAPD/APD
o Adies pupil
o Argyll Robertson pupil
o CN II palsy
o Horner’s syndrome
o Light-near dissociation
• The pupils normally act together  light stimulates the retinal ganglion cells after reaching the light receptors
 this goes to the pre tactile nucleus and then signals are sent to the Edinger-Westphal nucleus on the same
and contralateral side
• Similarly both pupils constrict when looking at something close  information is sent from area 19 bilaterally
to both EWN  hence vision is not necessary for this near reflex to occur
• APD  there is disruption of fibres travelling from the RGC to PTN and from the PTN to the same and
contralateral sided EWN  the afferent pathway is from the retina up to the EWN  however pathology
usually affects the retina or optic nerve
• RAPD  this is similar to APD but is not complete so a minimal response will be noticed  a swinging torch
test can be done here which will show maximal constriction in both eyes when shined on the good eye, and a
slight dilation in both eyes when shined on the bad eye
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• In summary
o APD  no consensual or direct response
o RAPD  reduced light and consensual response, pupil dilates on the swinging light test
• The efferent pathway starts from the EWN and includes the inferior division of the third nerve, pupil and
ciliary body  a 3rd nerve palsy here will mean the affected pupil is larger than normal, there will be an
efferent papillary defect, the pupil inequality is more obvious in bright light, complete ptosis and the eye will
look down and out
• Horner’s Syndrome  means there is a lesion affecting the sympathetic supply to the eyes  the affect pupil
is smaller than normal and there is some ptosis  the pupil inequality is more pronounced in the dark  the
patient may have a neck scar (pathology to sympathetic chain), partial ptosis and their eyes may appear to be
sunken in (apparent enophthalmos)  alternatively the patient may have had the sympathetic chain
disrupted by an apical lung tumour (Pancoast tumour)
• Argyll Robertson pupils  due to tertiary syphilis (neurosyphilis affecting the midbrain)  the pupils are often
small and irregular (both affected and maybe asymmetry between the two) and there is a sluggish response
to light  there will be light-near dissociation and the patient may be blind from optic atrophy  this was
usually seen in 60-70 year old patients but syphilis is now on the rise  syphilis can present with uveitis
• Light-near dissociation  a negative reaction to light but a positive reaction to accommodation  all
pathologies causing this will be of the brain stem  when the fibres leave the EWN and enter the inferior
division they enter the ciliary ganglion  this is responsible for pupil constriction and for the ciliaris muscle
which contracts, releasing the tension of the zonular fibres and making the lens more convex
(accommodation)  hence any pathology before here would affect both the accommodation and pupil
response  the long ciliary nerve controls the dilator papillary muscles
• Adies pupil  a unilateral dilated pupil in an otherwise health patient  it occurs in typically young women
and is associated with a poor pupil response to light and a slow response to accommodation  it is thought
to be due to a viral/bacterial infection of the ciliary ganglion and autonomic system
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COMMON MEDICAL RETINAL DISEASE

Inspect the fundus images of diabetic retinopathy and macular degeneration and diagnose different grades of the
disease
DIABETIC RETINOPATHY
• Diabetes affects about 4% of the UK population  the commonest cause of blindness in the working
population (20-65yrs)  most of this blindness is preventable but sadly diabetics are 25 times more likely to
go blind than someone who is not diabetic
• Diabetic retinopathy is essentially a retinal vasculopathy  affects the retinal precapillary arterioles,
capillaries and venules
• Resulting retinal disease may be vascular leakage and/or closure and sequelae  sequelae are related to
VEGF and other factors released into the retina
• The incidence of DR is most related to the duration of DM  risk factors include
o Duration of DM o Poor DM control
o Age o Hyperlipidemia
o Smoking o Nephropathy
o Hypertension o Pregnancy
• DR is graded depending on what is seen on examination  this can be seen below
Type of eye disease Grading Level Guidelines

Retinopathy (R) R0 None
R1 Background - Microaneurysm(s)
- Intraretinal haemorrhage(s) ± exudate
R2 Pre-proliferative - Venous beading
- Venous looping or reduplication
- Intraretinal microvascular abnormalilty (IRMA)
- Multiple flame, round or blot haemorrhages
Cotton wool spots
R3 Proliferative - Neovascularisation on disc (NVD)
- Neovascularisation elsewhere (NVE)
- Pre-retinal or vitreous haemorrhage
- Pre-retinal fibrosis ± tractional retinal detachment
Maculopathy (M) M1 - Exudate within 1 disc diameter (DD) of the centre of the fovea
- Circinate or group of exudates within the macula
- Retinal thickening within 1 DD of the centre of the fovea
- Any microaneurysm or haemorrhage within 1 DD of the centre of the fovea only if
associated with a best VA of ≤ (if no stereo) 6/12
Photocoagulation (P) P1 - Focal/ grid to macula
• Ophthalmologists have a slight different method of grading DR  uses the same guidelines as above
o Non-proliferative
▪ Mild
▪ Moderate
▪ Severe
o Proliferative
o Advanced  haemorrhage, tractional RD and neovascularisation of the iris
• Maculopathy is graded the same in both methods and can be seen above  can be present or absent with DR
• Non-proliferative DR  asymptomatic and occurs after 8-10 years of DM whether well controlled or not  it
can however be mild, moderate or severe depending on the other risk factors  it clinically manifests as
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o Microaneurysms  focal dilatations of retinal capillaries which may leak and are usually temporal to
the macula
o Haemorrhages can be dots (small) or blots (large) from the venous end of retinal capillaries, deep in
the retina  glame shaped haemorrhages (more from arterial side) located in the nerve fibre layer
can also occur
o Exudates are yellowish-white deposits with well defined edges and represent precipitation of leaking
lipoproteins from diseased retinal vasculature
o Cotton wool spots (CWS) are greyish white poorly defined fluffy edged lesions in the nerve fibre layer
 they represent microinfarcts in the retinal nerve fibres (axoplasmic accumulations)
• Severe NPDR consists of a large number of dark haemorrhages, irregular calibre variation (beading) and
dilatation of retinal veins and intraretinal microvascular abnormalities (IRMA)  most patients with severe
NPDR will progress to PDR within 12 months
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• Proliferative diabetic retinopathy occurs in about 5% of DM  it is more common in type 1 than type 2 DM 
characterised by the development of new blood vessels on the optic disc or surface of the retina  it occurs
as a response to significant retinal ischemia
NORMAL EXUDATE
MICROANEURYSMS HAEMORRHAGES
COTTON WOOL SPOTS NEOVASCULARISATION
• Initially the neovascularisations (NV) appear as small tuffs of irregular ramifying vasculature arising from veins
 they are initially flat but enlarge and move forward into the vitreous  they are fragile and likely to bleed
with slight traction resulting in pre-retinal and/or vitreous haemorrhage
• Late changes of PDR include retinal fibrosis and traction retinal detachment  this will lead to VEGF entering
the anterior segment of the eye and causing rubeosis iridis and neovascular glaucoma
DIABETIC MACULOPATHY
• Diabetic maculopathy is a specific type of DR and affects the macula  it can occur in proliferative or non-
proliferative DR
• It is more common in type 2 DM, but can occur in either  it leads to visual loss if untreated
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• Three types may occur in different combinations
o Focal leakage  retinal thickening & hard exudate
o Diffuse  diffuse retinal thickening, but usually no exudate
o Ischaemic  due to closure of the perifoveal capillary network  diffuse oedema with associated
dark haemorrhages  fluorescein angiography is important to confirm
o Mixed  ischaemia & exudate
• Finally diabetes can affect other parts of the eye
o Increased incidence of eyelid infections and cataracts
o Cranial nerve palsies of 3,4 and 6
o Delayed healing of corneal abrasions and corneal ulcers
o More severe post-operative intraocular inflammation
o Abnormal wound healing
MACULAR DEGENERATION
• Age related macular degeneration typically affects those over 50  leads to a progressive central visual loss
• It is usually bilaterally, even if one eye is involved initially  the commonest cause of visual loss of over 50
year olds
• There are two types of MD
o Dry (atrophic)  due to atrophy of the photoreceptors in the retinal pigment epithelium  it starts
with atrophy of the RPE and inner choroid  leads to death of photoreceptors  Drusens (soft
thickenings of Bruch’s membrane) occur and are responsible for the mentioned changes  this type
is responsible for 90% of cases of AMD but only 10-20% of severe visual loss in AMD
o Wet (neovascular)  due to abnormal vessels growing from the choroid (neovascularisation) and
underneath the retina  these vessels bleed and leak fluid which subsequently leaks and result in
scar formation  this subtype is responsible for around 10-20% of cases, but accounts for 80-90% of
severe visual loss in AMD
• Drusens  the RPE is located between the choroidal layer and the photoreceptors  between the RPE and
choroid is Bruch’s membrane  in drusens there is a focal thickening of Bruch’s membrane which separates
the photoreceptors from the choroid and hence their blood supply
• With wet AMD there is the development of abnormal vessels underneath the choroid that tend to bleed/leak
under the photographic film  this is very aggressive and leads to significant scar formation
• Blood vessels can be seen over the fibrous scar tissue  the vessels proliferate and penetrate the choroid,
drusen and into the tissue under the RPE and photoreceptors  these new vessels are fragile so tend to
bleed and it is this bleeding that causes the subsequent problems
• Visual perception in Drusens  there will be a blind spot in the central vision and a distortion of vision (clearly
shown when looking at a grid of lines)
• Risk factors for Drusens
o Age o CVD  HTN or hyperlipidemia
o Smoking o Low antioxidants in the blood
Perform examination of the patients with different grades of diabetic retinopathy for diagnosis and suggest
management
MANAGEMENT OF DIABETIC RETINOPATHY AND MACULOPATHY
• The main management consists of controlling the diabetes and its risk factors to slow down further
degeneration
• Proliferative DR  can be treated with peripheral laser photocoagulation (PRP) can be used for NV  as well
as vitrectomy for haemorrhage or tractional RD
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• Maculopathy  anti-VEGF may be used (intravitreal injections)  focal lasers are used to stop focal leaks
where as a grid laser is used in diffuse macular oedema but neither of these can be used for ischaemic
subtypes  intravitreal steroids can also be given
• Mixed maculopathies require combined strategies and pan-retinal photocoagulation (PRP) is the
recommended treatment for PDR
MANAGEMENT OF MACULAR DEGENERATION

• The location of the choroidal new vessels in relation to the centre of the fovea is important for laser
treatment
o Extrafoveal  > 200u from centre
o Juxtafoveal  > 1-199u from centre
o Subfoveal
• The leakage type can also be classified as
o Classical  normal pattern
o Occult  not obvious
o Mixed
• The original treatment was burning the new vessels with laser therapy  laser photocoagulation is a non-
selective thermal laser which destroys the choroidal neovascular lesions and can also damage the overlying
retina  eligibility is for Extrafoveal or Juxtafoveal lesions, presence of classical CVN and well demarcated
lesion boundaries  about 13-26% of patients of eligible for treatment but leakage persists/recurs in 50%
• Alternative treatments for wet AMD includes
o Surgery  submacular excision of CNV - didn’t work, and macular rotation – 80% recurrence with
high rejection rate
o Radiotherapy  less used
o Photodynamic Therapy  currently used
o Pharmacological agents
• Modern treatment aim to antagonise VEGF  drugs include Macugen (isoform 165) and Lucentis (all
isoforms)  however VEGF is neuroprotective so can’t be use permanently and whatever is injected into the
eye won’t last too long (4-6 weeks)
• Another treatment is Triamcinolone (long acting steroid) which causes anti-permeability and anti-
inflammatory but only mildly anti-angiogenic  side effects of the steroid include cataracts and increased IOP
 combination treatment can be used
Assess a patient with diabetic retinopathy and macular degeneration and evaluate the effects of this disease on a
patient’s life and know how patients may be helped to cope with poor vision
• Problems with AMD
o Increased risk of falling
o Difficulty shopping
o Managing money
o Preparing meals
o Using phone
o Doing housework
o Emotional distress & depression
• There is a high use of healthcare and community health services
• Many patients may feel suicidal and as a result there is a high use of anti-depressants
• More likely to be dependent, live alone and injure themselves
• If patients cannot be treated then they can be registered as blind and referred to the LVA (low visual aid) clinic
• Support groups and societies may be useful
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ORTHOPTICS
Understand basic terminology relating to squints, refractive errors, visual acuity, ocular movements and diplopia
• Binocular vision  the brains ability to perceive an image with each eye as a single image  the three
principles of this are
o Simultaneous perception
o Fusion
o Stereopsis  depth perception
• Squints are also termed strabismus and there are two main subtypes
o Manifest squint (tropia)  which is an obviously visible inward, outward, upward or downward
deviation of one eye
o Latent squint (phoria)  the tendency of one eye to deviate under certain circumstances
• With manifest squints the majority of adults will get diplopia (double vision) because they are looking at two
different things  children are very adaptable so can learn to suppress the troublesome eye
• Amblyopia is a reduction of vision in one eye due to a lack of stimulation during the critical period of visual
development  this can be for three reasons
o Stimulus deprivation
o Strabismic  squint
o Anisometropic  large different in refractive errors of over 1 dioptre – eye with highest refractive
error is affected
Amblyopia can be treated and reversed if treated within the critical period
Explain in basic terms the visual development period and why visual acuity is tested or screened in young children
• Visual acuity is important to test for in children  however they usually cannot be tested by the conventional
ways in which adults are due to a lack of speech or education  there are a variety of tests that can be used
o Preferential looks  this is where a card is held up with a pattern on one side and a blank space on
the other  this is useful for a very young child and shows they have some form of sight  the user
can look though the centre dot to see where the child looks  the stripes also get thinner and
thinner to give a form of grading
o Cardiff cards  cards with the same picture on at the top or bottom of the card  the child will then
look up or down  the picture will get smaller and less defined on a grading system
o Kays pictures  this is a picture form of the Snellen chart which can be used when a child can
verbalise what the picture are off  again these get smaller in a graded way
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o LogMAR crowded and uncrowded  useful when a child can read letters  the crowded test is
usually done as uncrowded tests can be easier  in the crowded test the letters are together in a
line, surrounded by a box
o Bailey Lovie  the proper LogMAR chart  this varies from Snellen as there is the same number of
letters per line to make it a fairer test  with Snellen’s it is an easier test if you have poor vision and a
harder test if you have good vision
• Snellens vision is recorded as a fraction with the numerator being the distance and the denominator being the
line of text read  with LogMAR with visual acuity is recorded as a decimal with 0 being normal and 1 being
6/60 so higher is worse vision  a negative number is better than normal
Understand the extraocular muscle anatomy and why the muscles have primary, secondary and tertiary actions
• Types of squints
o Concomitant strabismus  a strabismus that remains the same in all positions of gaze
o Incomitant strabismus  a strabismus that changes in different positions of gaze and is due to an
extraocular muscle imbalance
• Ocular movements  it is important to remember that the extraocular muscles do not work in isolation and
they have secondary and tertiary actions  but for simplicity it is only necessary to know the primary actions
but we can be tested on secondary and tertiary actions
• MR and LR insert horizontally onto the globe so their action is simple
• SR inserts at an angle of 23o to medial wall of orbit and does elevation, intorsion and adduction
• IR inserts at angle of 23o to medial wall of orbit and does depression, extorsion and adduction
• SO inserts at an angle of 51o to medial wall of orbit and does intorsion, depression and abduction
• IO inserts at an angle of 51o to medial wall of orbit and does extorsion, elevation and abduction
Muscle Primary Secondary Tertiary

Medial rectus Adduction - -
Lateral rectus Abduction - -
Superior rectus Elevation Intorsion Adduction
max in abduction max in adduction max in adduction
Inferior rectus Depression Extorsion Adduction
max in abduction max in adduction max in adduction
Superior oblique Intorsion Depression Abduction
max in abduction max in adduction max in abduction
Inferior oblique Extorsion Elevation Abduction
max in abduction max in adduction max in abduction
Explain the effect of having a squint in a child and in an adult
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Explain the features of 3rd, 4th and 6th cranial nerve palsies
• Features of these cranial nerve palsies have been discussed earlier
• Aetiology of nerve palsies
o Trauma
o Tumour
o Vascular
o Inflammatory
o Infection
• With children nerve palsies are never normal and they either have a tumour or traumatic aetiology
• Causes of mobility defects
o Mechanical conditions  such as blow out fractures or thyroid eye disease
o Myogenic conditions  such as tumour, inflammation, disease of EOM and myasthenia gravis
Understand the role of the Orthoptist

• The definition of orthoptics is straight eyes  they diagnose, treat and manage disorders of vision, eye
movements and binocular vision  they are able to assess any age or ability of patient
• Children are referred to orthoptist when
o Presence or suspicion of a squint
o Reduced visual acuity
o Family history of squint/reduced VA in childhood
• Adults are referred to orthoptist when
o Presence of diplopia
o Presence of squint  sudden onset or requiring cosmetic surgery
o Asthenopic symptoms  eye strain
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ORBITAL DISEASES
Describe the clinical features of orbital disease and investigations for the same
• The bony orbit is pyramidal in shape and can be separated into four zones:
o Roof (2 bones)  Frontal bone and less wing of sphenoid
o Lateral wall (2 bones)  Zygomatic bone and greater wing of sphenoid
o Floor (3 bones)  Zygomatic bone, maxillary and palatine
o Medial wall (4 bones)  Maxillary, lacrimal, ethmoid and sphenoid bones
• There are a huge number of signs and symptoms that can affect the orbit and they include:
o Signs  soft tissue involvement, proptosis, enophthalmos, ophthalmoplegia, visual dysfunction,
dynamic changes and fundus changes
o Symptoms  double vision, pain, discomfort and decreased vision
• Soft tissue involvement  includes lid and periorbital oedema, ptosis and conjunctival swelling due to
inflammation or vascular abnormalities
• Proptosis (exophthalmos)  the abnormal protrusion of the globe externally  the protrustion can be
intra/extraconal  Pseudoproptosis may occur with high myopia or contralateral enophthalmos  causes
include
o Thyroid eye disease
o Tumours
o Inflammation
o Infection
• Enophthalmos  a condition in which the globe is recessed within the orbit  causes include
o Small globe  nanopthalmos, micropthalmos or phthisis bulbi
o Structural abnormalities  e.g. blow out fracture
o Atrophy of the orbital contents  irradiation or scleroderma
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• Ophthalmoplegia  is restriction or disability of the ocular muscles  common causes include

o Tumour
o Restrictive myopathy  thyroid eye disease (TED) or myositis
o Ocular motor nerve lesions
o Trauma  longstanding blow out fracture
• Dynamic properties of the eye included
o Increased venous pressure  thyroid eye disease or vascular problems
o Pulsation  AV communication (+/- bruit) or defect in orbital floor (CSF pulsation & no bruit)
o Bruits may be heard with the bell of a stethoscope  it is a sign of carotid-cavernous fistula
• Fundus changes include
o Optic disc changes  disc swelling, atrophy, opticociliary shunts
o Choroidal folds
o Retinal vascular changes
THYROID EYE DISEASE

• Thyroid eye disease is an autoimmune disorder that exhibits a wide range of LID LAG
ocular manifestations  eye lid retraction and periorbital oedema are the
most common clinical signs
• Exophthalmos (proptosis) occurs in a third of patients  diplopia occurs in 5-
10%  compression of the optic nerve is rare  these conditions may lead
to an exposure keratopathy
• Soft tissue involvement includes  lid lag is also seen when following a target
from a superior to inferior position
o Eyelid erythema
o Conjunctival injection EYELID RETRACTION
o Chemosis
o Swelling of the caruncle PERIORBITAL SWELLING
o Eyelid oedema
• Exophthalmos is the most common cause of unilateral and bilateral proptosis
 it is permanent in 70% of cases
• Optic neuropathy affects about 5% of patients  can happen in the absence
of significant proptosis  the doctor should perform a CT scan and assess VA,
colour vision, papillary reactions, visual fields and fundoscopy
• Restictive myopathy  up to 50% of patients will have a permanent diplopia caused by a restrictive myopathy
 oedema is the causes in active stages and fibrosis in later stages  the muscles affected in order of
frequency are inferior rectus, media rectus, superior rectus and finally lateral rectus
INFECTIOUS AND INFLAMMATORY ORBITAL CONDITIONS

• Orbital cellulitis  an infection located behind the orbital septum, usually secondary to ethmoiditis 
patients present with severe malaise, fever and orbital signs  signs include
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o Severe orbital oedema
o Redness
o Ptosis
o Painful ophthalmoplegia
o Optic nerve dysfunction  if advanced
Complications include optic neuropathy and abscess formation  in severe cases this can lead to infection of
the cranial cavity (raised IOP, retinal vasculature occlusion)
• Idiopathic orbital inflammatory disease (IOID)  a non-neoplastic, non-infectious orbital lesion and can
involve any soft tissue component  presentation is typically between 20-50 years and with an abrupt painful
PERIORBITAL CELLULITIS IOID
onset  it is usually unilateral with proptosis, chemosis, periorbital swelling and ophthalmoplegia  this is a
diagnosis of exclusion
VASCULAR ORBITAL DISORDERS
• The possible vascular orbital disorders include
o Orbital venous anomalies (varices)
▪ Isolated orbital varices
▪ Combined orbital & external varices
o Carotid-cavernous fistula
▪ Direct Indirect
• Orbital venous varices are congenital  usually unilateral and may bleed or become thrombosed  these
patients will demonstrate intermittent proptosis accentuated by the Valsalva manoeuvre
• Direct carotid-cavernous fistula  abnormal communications between the carotid artery and cavernous sinus
 this is a high velocity flow shunt  causes include head trauma or spontaneous rupture  features are
o Ptosis
o Chemosis
o Conjunctival injection
o Ophthalmoplegia
o Raised IOP
These patients have a pulsatile proptosis with bruit and thrill  his can be abolished by ipsilateral carotid
compression  there is retinal venous congestion and haemorrhage
• Indirect carotid-cavernous fistula  abnormal indirect communications between meningeal branches of the
internal carotids and the cavernous sinus  these are mostly congenital malformationor spontaneous
rupture  patients present with
o Dilated episcleral vessels
o Raised IOP
o Occasional ophthalmoplegia
o Mild proptosis
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• Encephaloceles  a herniation of intracranial contents through the congenital skull defect  meningocele
contains only dura and a meningoencephalocele contains dura and brain tissue  transmission of CSF will
cause a pulsatile proptosis without a bruit
ENCEPHALOCELE
ORBITAL TUMOURS
• There are 4 main types of tumours that can affect the orbit
o Vascular tumours  capillary or cavernous haemangioma
o Lacrimal gland tumours  pleomorphic adenoma
o Neural tumours  optic nerve glioma or optic never sheath meningioma
o Miscellanous tumours  metastases or invasion from sinuses
• Capillary haemangiomas  the most common orbital tumour in children with 30% present a birth and 100%
present by 6 months of age  these tumours may enlarge on coughing or straining  these are associated
with systemic conditions (high output cardiac failure, Maffuci syndrome etc)  growth is during the 1st year
and 70% have resolved by age 7  treated with steroid injections, systemic steroids and local resection if
possible
• Cavernous haemangiomas  the most common adult orbital benign tumour  found just behind the globe
 they are most common in women 40-60  treatment is surgical excision
• Pleomorphic lacrimal gland adenomas  present in the 4th to 5th decades and are painless and slow growing
 these tumours are well encapsulated so can be surgically removed
• Lacrimal gland carcinomas  present in the 4th to 6th decades and have a very poor prognosis  they are
painful and grow rapidly  diagnosis is by biopsy and treatment is radical surgery and radiotherapy
• Optic nerve gliomas  typically affect young girls and are associated with NF-1  present at end of 1st
decade with gradual visual loss  slow growing lesions can be observed, but excision is necessary if affecting
vision or cosmesis
• Optic nerve sheath meningioma  typically affects middle aged women and causes gradual visual loss to due
optic nerve compression  treatment depends on the tumour, but excision and radiotherapy may be
necessary
• Metastatic tumours  can spread to the orbit and the common sites are from the
o Breast o Skin melanoma
o Bronchus o GI tract
o Prostate o Kidney
Evaluate the management of common orbital diseases: orbital tumours, dysthyroid disease, orbital cellulitis
• Orbital cellulitis  treatment is with systemic antibiotics and monitoring of optic nerve function 
indications for surgery are
o Resistance to antibiotics
o Orbital or subperiosteal abscess
o Optic neuropathy
• Idiopathic orbital inflammatory disease  has a varying outcome from mild to severe:
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o Early spontaneous remission without sequelae  no treatment
o Prolonged intermittent activity with eventual remissions  treatment options steroid therapy,
radiotherapy and cytotoxic usage
o Severe prolonged activity causing a ‘frozen orbit’
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ENT CP2 Learning Objectives Specials
ENT
GENERAL NOTES
• Acoustic neuroma  vestibuloschwannoma  tumour of the schwann cells surrounding CN VII
(vestibulocochlear)
• Otosclerosis  porous bone development around the stapes  prevents the stapes from moving
• ENT emergency  acute unilateral sensorineural hearing loss
• Tympanometry  testing function of the middle ear  if healthy, it should be filled with air and move freely
 if unhealthy, fluid may fill the middle ear and prevent movement
• Common sensironeural hearing loss causes
o Old age (?preburcussis)
o Loud noises
• Labyrinithitis  ‘acute vestibular failure’  inflammation of the labyrinth
• BPPV  crystals in semicircular canals move from one to another
• Anatomy
o External ear  pinna and EAM
o Middle  inner tympanic membrane to oval/round window
o Inner  cochlear, semi-circular canals or CN VIII
• Functions of facial nerve
o Muscles of facial expression
o Taste for anterior 2/3 of tongue  chordae tympani  nerve that comes off facial nerve and supplies
the tongue  come from back wall of middle ear forwards
o Stapedius (acoustic reflex)  innervates the stapedius muscle which controls stapes connection to
oval window
• Facial nerves goes through IAM, middle ear, stylomastoid foramen and parotid gland
• Branches of facial nerve  5 branches – two zebras buggered my cat
o Temporal
o Zygomatic
o Buccal
o Marginal mandible
o Cervical
• Parts of temporal bone
o Temporal
o Mastoid
o Petrous
o Zygomatic
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HEAD AND NECK TEACHING

PHARYNGEAL POUCH
• Presentation
o Bad breath
o Dysphagia
o Faucet
• Weakness in the pharyngeal muscles  between inferior and middle constrictors  at Killian’s dehiscence
• Treatment is surgical excision  daycase surgery using staples
B SYMPTOMS OF LYMPHOMA
• Weight loss
• Night sweats
• Malaise
• Rashes
• Anorexia  loss of appetite
SORE THROAT DIFFERENTIALS

• Pharyngitis
o Viral  rhinovirus or adenovirus
o Bacterial  Streptococcus (S.pyogenes or S.pneumoniae)
• Infectious mononucleosis  EPV
o Hepatosplenomegaly
o Dysphagia
o Pain
o High pyrexia
• Laryngitis  occlude the airway
o Viral
o Bacterial
• Epiglottitis  supraglottitis in adults
TONSILLITIS
• Bacterial finection  Group A beta haemolytic strep – st
• White pus on tonsil
• GP Mx  analgesia, PO Pencillin V
• Rarely need ENT referal
• Centor Criteria for Tonsillitis
o Fever
o Cervical lymphadenopathy
o Exudate on the tonsils
o Absence of cough
• Indication for tonsillectomy
o >7 per yr in 1 year
o >5 per yr in 2 years
o >3 per year in 3 years
o OSA
o Suspected malignancy
• Highest risk of surgery is post-operative bleeding
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o Primary  bleeding with 24hr  must return to theatre
o Secondary  bleeding 3-10 days  may be accompanied by fever, decreased oral intake and unwell
 made need IV antibiotics
INFECTIOUS MONONUCLEOSIS
• Presentation
o Hepatosplenomegaly
o Dysphagia
o Pain
o Lethargy
o High pyrexia
o Petechial rash on soft palate
• Caused by the Epstein-Barr virus (Herpes)  can infect nerve
endings causing lethargy and meningeal symptoms
• Diagnosis
o Monospot test
o Paul Bunnell test  this test uses sheep red blood cells that are specially prepared  these clump or
aggregate when they are put in blood samples of patients with heterophile antibodies
o FBCs & blood film
o LFTs
• Management
o Supportive
o Given antibiotics if presenting with ?tonsillitis  Penicillin V
o Steroids
o Rehydration
o No contact sports or heavy lifting for 6 weeks
PERITONSILAR ABSESS
• Presentation
o Trismus  reduced opening of the jaw due to spasms of the pyterigoid
▪ Give paracetamol
▪ Give local anaesthetic
▪ Allows mouth to open more
o Dysphagia  maybe absolute
o Odynophagia (painful swallowing)  unilateral
o Hot potato voice
o Referred otalgia
o Tonsil & uvula pushed to opposite side
• Abscess  pus filled epithelial lined cavity  in this case pus between tonsil capsule & lateral pharyngeal wall
• Causative organism  Streptococcus pyogenes, H.influnezae or Anaerobes
• Management
o IV infusion
o IV antibiotics
o Aspiration or Incision & drainage
DEEP NECK SPACE LESIONS

• Parapharyngeal neck abscess
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o Presentation
▪ Drooling
▪ Septic
▪ Poor head movement
▪ Neck mass
▪ Airway compromise
▪ Displace pharynx
▪ Tongue swelling
o Aetiology
▪ Odontogentic
▪ Tonsils
▪ Pharynx
▪ Nasopharynx
▪ Parotid gland
• Retropharyngeal abscess
o Affects children  50% aged 6-12 months  96% <6yrs
o Aetiology
▪ Adentitis suppuration  Rouviere’s node
▪ Trauma
▪ Foreign body
• Ludwig’s Angina  submandibular/sublinguial space infection
o Bilateral
o Cellulitis  not abscess
o Dental cause  80%
o “Woody” induration
o Swollen floor of mouth
o “Hot potato” voice
o Airway compromsie
NECK FASCIAL PLANES

• Investing fascia  muscular compartment  sternocleidomastoid and trapezius
• Pre-tracheal  visceral compartment
• Carotid fascia  carotid sheath  ICA, IJV and CN X
• Pre-vertebral  vertebral compartment
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HEAD & NECK
Demonstrate knowledge of benign and malignant salivary gland tumours

• Neoplastic disease of the salivary glands is uncommon  80–90% of salivary neoplasms arise in the parotid
gland  a similar proportion of these are benign in nature
• Tumours arising in the submandibular or the minor glands are uncommon  but are much more likely to be
malignant
• Investigations include
o Fine-needle aspiration (FNA) of the mass
o CT scanning
o Magnetic resonance imaging (MRI)
• Although FNA may be helpful  when the exact diagnosis is still in doubt, excision biopsy of the gland may be
needed  incisional biopsies should not be undertaken as there is a risk of seeding tumour and thus tumour
recurrence
BENIGN TUMOURS
• Benign neoplastic tumours classically present as slow-growing, painless masses  the patient may have
noticed a small mass for some time and only seeks help when it becomes more noticeable  facial or other
nerve palsy does not tend to occur
• Location
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o 80% salivary tumours occur in the parotid
o 80% of these are benign
o 80% are pleomorphic adenoma
o 60% Submandibular tumours are benign
o 30% Minor salivary gland tumours are benign  away from the mouth and oropharynx all minor
salivary gland tumours are all malignant
• Affects 1 per 100,000 with slight female preponderance  mainly affects adults, but children rarely have
salivary tumours and they tend to be malignant
• Mostly unknown  but previous radiation is a factor in some
• Pathologically most tumours are classified according to the resemblance of the tumour cell to normal non-
neoplastic cells  tumours result from abnormal proliferation of reserve (stem) cells that do not go on to
terminal differentiation  the reserve cells are present in the intercalated and excretory ducts.
• Examination usually reveals a smooth subcutaneous swelling with no attachment to skin
• There are two main types of benign salivary gland tumours
o Pleomorphic adenomas  80%
o Warthin’s tumour or ‘adenolymphoma’  2-6%
• Pleomorphic adenomas are the most common salivary gland tumours  usually arise in the parotid, but
originates from intercalated duct reserve cells (progenitor cells from ductal cells and myoepithelial cells 
they are benign, but if they are present for many years malignant change may occur
• They are investigated using fine need aspiration cytology  sometimes ultrasound or CT is required
• Treatment is by surgical excision (parotidectomy – partial or total)  with care being taken to remove it
completely and to include a cuff of normal parotid tissue around the palpable lump  care must be taken not
to spill tumour cells as these can cause recurrences
• Warthin’s tumour or adenolymphoma  which is not malignant  also tends to arise in the parotid,
particularly parotid lymph nodes  it is most commonly found in the tail of the parotid and usually occurs in
older men (8:1)  presents as soft, cystic masses in tail of the parotid and is occasionally bilaterally 
treatment is by excision
• There are 7 other types of adenoma that can be found in the salivary glands all of which are rare and can be
divided in further subtypes  mostly histological curiosities although some are considered by some to be
low-grade malignancies  they are mostly treated as above
MIXED BENIGN AND MALIGNANT TUMOURS

• Mucoepidermoid carcinoma  originates from epithelial cells of interlobar and intralobular ducts  90%
found in parotid gland
• Prevalence highest in 5th decade  ommonest salivary gland carcinoma in children  more common in
females (2-4:1)
• Well differentiated (low grade) tumours grow slowly and painlessly  while poorly differentiated (high grade)
tumours grow rapidly, painfully, invade local structures and metastasise to local lymph nodes (30%), lungs,
bones and brain  many are intermediate in differentiation
• Composed of 3 cell types:
o Mucin-secreting
o Epidermoid
o Intermediate.
• Low grade tumours should be managed by local resection and prolonged follow up  high grade tumours
require more radical resection and adjuvant radiotherapy
• There is up to 30% recurrence rate  cure rate at 15 years approximately 50% for low grade and 25% for
intermediate and high grade tumours
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• Acinic Cell  accounts for 2-4% of all parotid tumours  originates from reserve epithelial cells of terminal or
intercalated ducts  99% found in parotid gland
• Prevalence highest middle aged and elderly  can occur in children  more common in females  can occur
bilaterally (3%)  grow slowly
• Management is local resection with VII nerve preservation and prolonged follow up
• Behave as low grade tumours with a tendency to recur locally (35%)  can occasionally metastasise to lymph
nodes (10%)  cure rate 55% at 15 years
MALIGNANT TUMOURS
• Malignant salivary neoplasms are relatively uncommon
• Symptoms include a rapidly growing swelling  often with pain and the involvement of other structures 
facial nerve palsy with a parotid tumour is almost diagnostic of malignancy
• Local lymph node metastases may occur  so the neck must be included in the examination
• Malignant tumours are more common in the sublingual and minor salivary glands than in the parotid 
therefore, swellings in these areas must be treated with a higher index of suspicion
• Minor salivary glands are dispersed throughout the oral and nasal cavities  as a result, minor salivary gland
tumours may occur anywhere within these areas
• Adenoid Cystic Carcinoma  accounts for 14% of parotid gland cancers  originates from reserve epithelial
cells in the intercalated ducts  commonest malignant tumour
• Tumours are found in these sites:
o 2% parotid
o 16% submandibular
o 28% sublingual
o 13% minor salivary gland
• Majority of patients between 40-60 years of age  tumours in submandibular gland generally seen in
women, but minor salivary gland tumours are equal in both sexes
• Grows slowly and insidiously, but local spread may be extensive  propensity for perineural infiltration (skip
lesions) so presents with palsies and pain
• Management is using a wide local resection sometimes with sacrifice of VII nerve  radiotherapy is
controversial  prolonged follow up
• 15 year survival 10-26%  local recurrence 50%  can also spread to bone, liver and lung
• Carcinoma ex pleomorphic adenoma  3-12% of all cancers of salivary glands  can develop within a
pleomorphic adenoma  but present 10 - 15 years later than pleomorphic adenomas  pain or a palsy
usually heralds onset
• Adenocarcinoma  2.5-4% of all parotid neoplasms  highly malignant  several histological types  poor
prognosis with 10% 5 year survival
• Lymphoma  comprise 40% of non-epithelial tumours of salivary glands  Non-Hodgkin’s lymphoma is the
commonest  usually arise between the fifth and seventh decades  some associated with benign
lymphoepithelial lesion  presents as firm rapidly enlarging masses and occasionally lymph node metastases
 diagnosis made by open biopsy  treatment depends on clinical stage and histological type
• Metastases
o Local skin- Melanoma, Squamous cell carcinoma
o Distant – lung, breast, kidney or upper gastrointestinal tract
Demonstrate knowledge of salivary gland inflammatory disease

• Non-cancerous disease of the salivary glands can be divided into
o Viral infection
o Sialadenitis
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o Sialolithiasis
o Granulomatous disease
o Sjogren’s syndrome
• It is also important to remember that the two main symptoms of salivary gland disease are pain and swelling
 there may also be lacrimal involvement which needs to be assessed with systemic disease  
SYSTEMIC VIRAL INFECTIONS

• Mumps is caused by paramyxovirus  the most common cause of bilateral parotid gland enlargement
• The submandibular gland can also be affected  but this is rare
• It occurs mainly in children  presents with a systemic upset, swelling and pain  which are due to the
stretched parotid capsule
• Infection with HIV can also be associated with infection of the major salivary glands
PAROTITIS
• Parotitis is an inflammation of one or both parotid glands  the major salivary glands located on either side
of the face, in humans  the parotid gland is the salivary gland most commonly affected by inflammation
• Viral
o Aetiolgoy  mumps, echo and coxsackie
o Investigation  do mumps titres
o Management  analgesia and hydration
o HIV
▪ diffuse enlargement
▪ multiple cysts
• Bacterial
o Aetiology  often staphylococcal infection
o Presentation  debilitated, may be on anticholinergics, dehydrated
o Management  sialogogues, massage or drain pus if present
o Tuberculosis
▪ drug treatment, not surgery
▪ Actinomycosis
• Fungal  rare
o Aetiology  Candidiasis
o Presentation  immunosuppressed
• Other
o Aetiology
▪ Sarcoid
▪ Drugs e.g. dextroprophoxyphene
SIALADENITIS
• This is an acute infection of the parotid or submandibular gland  presents with pain and swelling of the
gland
• Acute parotitis commonly occurs in older debilitated patients who may be dehydrated and have poor oral
hygiene
• Local symptoms are pyrexia and systemic upset  with a swollen and tender gland with visible pus coming
from the opening of the parotid duct into the mouth  with the submandibular gland the tissues of the floor
of the mouth are swollen and oedematous
• Treatment is with high-dose antibiotics, rehydration and oral hygiene  citrus mouthwashes will also improve
saliva flow  if untreated a parotid abscess may occur and need surgical drainage
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• A chronic form of this can also occur  with recurring inflammation and pain that may follow an acute
infection or be more insidious in onset  pain and swelling are common symptoms that occur episodically or
transiently after meals
• With repeat infections there is scarring of the architecture of the gland and surgical excision may be necessary
SIALOLITHIASIS
• This describes the formation of stones (calculi) within the salivary glands  often occurs alongside chronic
sialadenitis
• Most stones occur in the submandibular gland, but they can occur in the parotids too  because the
secretions are thicker
• These calculi usually present with postprandial swelling (after eating) and pain in the affected gland or in
association with repeat infection
• On examination the gland may be tender and swollen  if the calculi has migrated into the submandibular
duct, then it may be palpated in the floor of the mouth  the calculi can be seen on x-ray (floor of the jaw) or
when injecting radio-opaque dye into the duct
• Initial treatment is with oral fluids and sialogogues  e.g. lemon drops which stimulate secretions  as
sometime stones pass by themselves  if the situation becomes worse the stone or the gland can be
surgically removed
SIALECTASIS
o Dilation, stenosis and necrosis of acini forming cysts  cause is unknown
o Initial event in sialolithiasis (calculus formation)  85% of which affect the submandibular gland duct
o Investigate with plain X-Ray and sialogram
o Management is by removal of calculus and marsupialise duct  occasionally gland needs to be excised
GRANULOMATOUS DISEASE
• Both tuberculosis and non-tuberculous disease can affect the submandibular and parotid glands  will be
seen as a cold abscess of the lymph nodes adjacent to the gland 
SJOGREN’S SYNDROME
• This syndrome affects many organ systems  thought to be autoimmune in cause
• Classified as follows:
o Primary Sjögren's Syndrome  sicca complex
▪ Dry eyes  xerophthalmia
▪ Dry mouth  xerostomia
o Secondary Sjögren's Syndrome
▪ Xerophthalmia
▪ Xerostomia
▪ Connective tissue disease  50% of time Rheumatoid arthritis  also systemic lupus
erythematosus, scleroderma, and polymyosits
o Benign lymphoepithelial lesion ?prelymphomatous condition
o Aggressive lymphocytic behaviour confined to parotid glands
• Xerostomia (dry mouth) and keratoconjunctivitis sicca (dry eyes) are characteristic
• Other symptoms:
o Glossitis
o Secondary candidiasis
o Stomatitis
o Dental caries
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o Dry vagina
• 40% feel parotid gland enlargement  only 20% show it  those with enlargement have higher chance of
developing lymphoma
• Many of these patients will also have diffuse parotid gland enlargement  minor and major salivary glands
can be affected leading to a reduced saliva flow
• Other associated conditions:
o Primary biliary cirrhosis
o Chronic hepatitis
o Vasculitis
o Cryoglobulinaemia
o Hypergammablobulinaemic purpura
o Polyarteritis
• 15% will have Thyroiditis and many of these will develop pancreatitis  also achlorhydria, disorders of
oesophageal motility, nasal and other upper aerodigestive tract crusting
• Immunological defect  loss of suppressor T-cell activity and an alteration in the T-suppressor-helper cell
relationship
• Investigations:
o HLA AI, B8, DR3  present especially in primary Sjögren’s
o Specific antigens  SSA and SSB
o Schirmer's Test for lacrimation
o Carlsson-Crittendon for salivary flow
o Labial biopsy  diagnostic test for Sjögren’s
• 1 in 6 with Sjögren’s will develop Non-Hodgkin's B-Cell Lymphoma  also higher risk of Waldenstrom's
Macroglobulinaemia and Lymphoblastic sarcoma
• Treatment:
o Steroids for bouts of parotid swelling
o Artificial tears, artificial saliva, lubricants
o Rapid growth  diagnostic parotidectomy
Be able to competently examine the salivary gland

SALIVARY GLANDS
• There are 600-1000 minor salivary glands  located beneath the mucosa of the upper aerodigestive tract 
named according to anatomical position  e.g. palatal, buccal, labial, lingual, tongue, tonsillar region, false
cords and aryepiglottic folds of larynx
• There are 3 pairs of major salivary glands  each situated outside the oral cavity but connected to it by a duct
or system of ducts
o Parotid
o Submandibular
o Sublingual
PAROTID GLAND
• PAROTID GLAND is a wedge-shaped organ invested by fascia  divided artificially by plane of VII nerve into
superficial lobe (80%) and deep lobes (20%)
• This is the largest of the salivary glands and is a serous gland which produces watery saliva  it is situated in
the cheek lying in the space between the mastoid process and the mandible
• Deep to this is the styloid process  its attached musculature and the carotid sheath  laterally the gland is
flat and enclosed in parotid fascia lying close to the skin
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• The secretions drain into the mouth via the parotid duct that opens at the level of the second upper molar
tooth
• The facial nerve emerges from the stylomastoid foramen that lies at the posterior/deep border of the gland
 as it passes through the gland it divides into its five branches  lying within the deep lobe is the external
carotid artery and several parotid lymph nodes
• Relationships
o Posteriorly  zygoma, tympanic bone, cartilaginous external ear canal, stylomastoid fossa, mastoid
process, upper ¼ of the sternocleidomastoid m.
o Anteriorly  overlies posterior ½ masseter m.
o Superiorly  zygomatic arch
• Structures within gland:
o Facial nerve trunk and 5 major branches  temporal, zygomatic, buccal, mandibular and cervical
o Retromandibular vein, external carotid artery dividing into terminal superficial temporal and maxillary
arteries  variable number of lymph nodes (<20) mostly in superficial lobe
o Parotid Duct (Stenson's Duct) leaves gland anteromedially passing through buccinator m.  then
medially to anterior border masseter  exits in mouth at level of upper 2nd molar
o Secretemotor fibres  from inferior salivary nucleus and otic ganglion
o Sympathetic fibres  from superior cervical ganglion via neural plexuses around arteries
SUBMANDIBULAR GLAND
• This is a mixed serous and mucous gland that lies in a triangular space bounded by the mylohyoid muscle, the
mandible and roofed by the deep cervical fascia that is attached to the mandible and hyoid bones
• The gland is composed of a superficial lobe that lies on the mylohyoid muscle and a deep gland lobe that
wraps around the free posterior edge of the muscle to lie in the floor of the mouth
• The submandibular duct runs from the deep lobe to open into the mouth as a papilla next to the frenulum of
the tongue
• Three important nerves are related to the gland
o The hypoglossal and lingual nerves that are associated with the deep lobe and duct
o The marginal mandibular branch of the facial nerve that runs in the skin overlying the gland
• Relationships:
o Larger superficial and smaller lobes in continuity around posterior aspect of mylohyoid m.  fills
submandibular triangle below mandible
o Marginal mandibular branch facial nerve superficial to capsule below mandible
o Lingual and Hypoglossal nerves close proximity to deep surface
o Facial artery enters submandibular triangle under posterior border of digastric m. creases the
posterosuperior aspect of the gland before passing over the mandible
• Structures within gland:
o Submandibular (Wharton’s Duct)  emerges from middle of deep surface where exits in a papilla to
the side of the lingual frenulum  he sublingual glands and lingual nerve are in close proximity to the
duct
o Secretemotor fibres  from superior salivary nucleus via the nervus intermedius, chorda tympani,
lingual nerve and submandibular ganglion
o Sympathetic  from superior cervical ganglion via neural plexuses around the facial artery
SUBLINGUAL GLAND
• This is the smallest of the paired glands and lies in the floor of the mouth  along the course of the
submandibular duct
o Floor of mouth, distal to deep lobe of submandibular gland
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o Same nerve supply as submandibular gland
o Many small ducts drain into floor of mouth and Wharton's Duct
• It is oblong in shape and is mucus secreting  it drains its secretions by 10-15 ducts either directly into the
mouth or into the submandibular duct  it has similar relations to those of the submandibular gland
• Glands are split into lobules by fibrous septa  the parotid glands are almost exclusively serous,
submandibular glands mixed and sublingual mucus  the minor salivary glands are variable depending on
their site
• Varying proportions of serous and mucous cells clumped together forming acini  the acini are surrounded
by myoepithelial cells, which are drained by short intercalated ducts  these in turn drain into striated ducts
then excretory ducts before exiting into the main ducts
• Reserve cells are found in the intercalated and excretory duct systems  have the capacity to differentiate
into different duct cell types  are thought to be the cells of origin of salivary gland neoplasms
• There is a basal secretion of fluid from the acini and active secretion and exchange of ions from the striated
and excretory parts of the duct system  water, Na+, K+, Cl- , HCO3- , proteins e.g. amylase, mucins and IgA
• 1-1.5 litres saliva are produced in 24hrs  there is a basal secretion of saliva and regulation under
neurotransmitter control via the autonomic nervous system
• Salivary stimuli:
o Smell
o Taste  especially acid, sugar, sweet, salt
o Psychic stimuli  e.g. the thought and sight of food and images of food
o Chewing and mastication
o Parasympathomimetic drugs  e.g. Pilocarpine
Demonstrate the surface anatomy of the trachea, thyroid gland, laryngeal cartilage, hyoid bon, carotid arteries, cricoid
cartilage, sternocleidomastoid muscle and cervical lymph nodes
TRACHEA
• From C6 to T4/5 where it bifurcates
• Surface anatomy is from the anterior inferior margin of the cricoids cartilage to the manubriosternal angle
THYROID GLAND
• This is located in the anterior triangle of the lower neck on either side of the airway and digestive tract inferior
to the position of the oblique line of the thyroid cartilage
• Find it by palpating the thyroid prominence and arch of the cricoids cartilage and then feeling posterolateral
to the larynx
• The isthmus crosses the anterior to upper end of the trachea and is palpable in the midline, inferior to the
arch of the cricoids
LARYNGEAL CARTILAGE
• The laryngeal cartilages include the
o Cricoids
o Thyroid
o Epiglottis
o Arytenoids
o Corniculate
o Cuneiforms
• The most relevant of which are the cricoids and thyroid cartilages.
• Thyroid cartilage is the largest laryngeal cartilage and is located in the midline of the neck at C3/4 (upper
margin)
• The thyroid notch is palpable and the thyroid prominence usually visible
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HYOID BONE
• The hyoid bone is located at C3 superiorly to the thyroid cartilage
CAROTID ARTERIES
• The right common carotid originates from posterior to the right sternoclavicular joint
• The left common carotid begins in the thorax and enters the next near the left sternoclavicular joint
• Both ascend lateral to the trachea and oesophagus within the carotid sheath
• Near the superior edge of the thyroid cartilage each divides into the internal and external carotid arteries (in
the carotid triangle)  here the carotid body and sinus are found along with cranial nerves 9, 10 and 12
• The internal carotid heads to the base of the skull and enters through the carotid canal  it gives off no
branches
• The external carotid gives off 8 different branches which are:
o Superior thyroid o Posterior auricular
o Ascending pharyngeal o Superficial temporal
o Lingual o Maxillary
o Facial
CRICOID CARTILAGE
• Located immediately below the thyroid cartilage at level C6 and marks the superior end of the trachea and
oesophagus
• This structure is important as it allows for the identification of the cricothyroid ligament through which a
surgical airway can be created
STERNOCLEIDOMASTOID MUSCLE
• This muscle consists of two parts  the sterna head and the clavicular head
• The sterna head originates from the upper part of the anterior surface of the manubrium of the sternum and
inserts along the lateral half of the superior nuchal line
• The clavicular head arises from the superior surface of the medial third of the clavicle and inserts along the
lateral surface of the mastoid process  this muscle is evident when the patient twists their head
CERVICAL LYMPH NODES
• There are two types of cervical lymph nodes  those which are superficial and those which are deep
• The superficial are collected along the course of the external jugular vein on the superficial surface of the
sternocleidomastoid  these primarily receive drainage from the posterior and posterolateral regions of the
scalp through the occipital and mastoid nodes and send lymphatic vessels in the direction of the deep cervical
nodes
• The deep cervical lymph nodes form a chain along the internal jugular vein (basically the same surface
anatomy as the superior nodes)  they are divided into upper and lower groups by the omohyoid muscle
when it crosses the common carotid artery and internal jugular vein  the most superior node in the upper
group is the jugulodigastric node that receives drainage from the tonsils and surrounding region  another
large node, this time of the lower group, is the jugulo-omohyoid node which drains the tongue
• The deep cervical lymph nodes eventually receive lymphatic drainage from the head and neck either directly
or through regional groups of nodes  from these nodes the vessels form a right and left jugular trunk which
empty into the right lymphatic duct on the right or the thoracic duct on the left
Demonstrate the anatomical site where brachial and thyroglossal duct cysts develop
BRACHIAL CYSTS
• Brachial cysts are congenital and tend to present before the age of 30  occurring in a characteristic position
 they present as a lump in the neck situated in the region of the middle third of the sternocleidomastoid
muscle and can be painful if infected
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• It is thought they result from epithelial inclusions within a lymph node which later undergoes a process of
cystic degeneration
• FNAC will result in a pus-like aspirate which is rich in cholesterol crystals
•Treatment is by surgical excision
THRYOGLOSSAL DUCT CYSTS
• These lesions are congenital  but tend to present in childhood or adulthood rather than at birth  they
result from a defect in the development of the thyroid gland
• The thyroid develops at the tongue base and in embryo it descends downwards around or through the hyoid
bone  through the tissues of the neck, to eventually overlie the trachea and thyroid cartilage  as a result
of this a tract is left which runs from the foramen caecum of the tongue to the thyroid gland  the tract
usually resorbs but it can remain and hence cyst or fistula formation of the tract can result
• The lesions are almost exclusively present in the midline and will move upwards when the patient sticks out
their tongue  due to the attachment with the hyoid and tongue base
• The patient may notice a swelling at the front of the neck  or a discharge if a fistula
• Treatment consists of surgical excision of the whole tract  including the body of the hyoid bone  excision
of small parts is usually ineffective as the condition can recur and this is why complete excision is
recommended
Demonstrate the anatomical site where thyroid masses develop

• Thyroid masses can develop over the thyroid, anywhere between the base of the tongue and thyroid gland, or
in surrounding lymph nodes  there are two broad categories of thyroid enlargement  benign and
malignant
• Goitre  can be separated into a diffuse enlargement and a nodular enlargement  a diffuse enlargement
can occur as a direct result of iodine deficiency or even in pregnancy  it is due to excess stimulation by TSH
and hence Grave’s disease is another major cause
• A nodular enlargement (with single or multiple nodules) must raise the question of malignancy  multiple
nodules may result from alternating episodes of deficiency of iodine or TSH hyper secretion  in such cases
thyroidectomy is only necessary from a cosmetic or compressive point of view
• Malignant conditions  tumours of the thyroid may arise from follicular cells (papillary, follicular and
anaplastic carcinomas) or parafollicular cells (medullary carcinoma)  50% are papillary, 25% of follicular,
20% are anaplastic and 5% are medullary
o Papillary  most common between 40 and 50 years old and tend to be multifocal with 60% of
patients have neck nodes involves at presentation  there is a 90% survival if the tumour is confined
to the gland and 60% if it is not  since it is multifocal a total thyroidectomy is the treatment of
choice with neck dissection (if necessary) and radioactive iodine given after to ablate any viable
thyroid left
o Follicular  more common between 50 and 60 years old and tend to have a well defined capsule 
these tumours tend to spread haematologically rather than by invasion  treatment is similar to
papillary carcinomas
o Anaplastic  this is a deadly tumour of which 92% of patients will die within one year despite
treatment  it tends to affect elderly women who has long term thyroid enlargement  patient
presents with a rapidly enlarging mass, pain, referred otalgia and symptoms due to invasion of the
larynx, trachea or oesophagus  radical radiotherapy offers the only cure but early recurrence is
common
o Medullary  this tumour arises from the parafollicular cells which secrete calcitonin  as a result the
plasma level of these hormones is raised but the level of calcium remains constant  regional lymph
nodes are affected in 30% of cases and total thyroidectomy plus radiotherapy is recommended
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• Benign adenoma  a benign tumour may or may not secrete thyroxine
o An actively secreting tumour will take up radioiodine or technetium and is known as a ‘hot’ nodule 
symptoms of thyrotoxicosis may develop and, if suppressant treatment fails, then surgery or
radioiodine may be required  hot nodules are rarely malignant
o Non-functioning adenomas also occur which do not take up iodine  these are referred to as ‘cold’
nodules and 10-20% will, in fact, represent malignant rather than benign tumours
Demonstrate the diagnostic features and presentation of head and neck malignancies
• Head and neck cancer is the term given to a variety of malignant tumours that develop in the
o Oral cavity
o Pharynx
o Paranasal sinuses
o Nasal cavity
o Larynx
o Salivary glands
• NB  many authorities also include thyroid carcinomas and skin tumours of the face and neck
• Head & neck cancers are 6th most common cancer world wide  with an increasing incidence in the
developing world  more common in men and older people
• In some cases the causes are unknown  for example, salivary gland cancers, sarcomas and lymphomas
• Squamous cell carcinomas are much more common in smokers and people who drink a lot of alcohol 
especially people who do both
• Other risk factors include the following:
o Pipe smokers and people who hold cigarettes between their lips for long periods have a higher risk of
cancers in the lip area
o People who have long periods of sun exposure in their daily life have an increased risk of cancer of the
lip and the skin of the head and neck, especially the ear
o People who chew tobacco or betel nuts and those who use pahn have a higher risk of cancers in the
oral cavity
o Breathing in certain chemicals and hardwood dusts increases the risk of cancers of the nose and
sinuses
RISK FACTORS
• Factors known to contribute to the risk of developing head and neck cancers include
o Smoking  both tobacco and marijuana
o Chewing tobacco
o Alcohol use
o Leukoplakia  may be considered a risk factor as this condition becomes cancerous in approximately
one-third of patients
PATHOLOGY
• Most head and neck cancers are squamous cell carcinomas  however, other tumour types also may be seen
and include
o Lymphoma  most often diffuse non-Hodgkins lymphoma
o Salivary gland tumours  including adenoid cystic, mucoepidermoid, acinic cell
o Thyroid  papillary, follicular, medullary and anaplastic carcinomas
o Sarcomas
o Undifferentiated carcinomas.
PRESENTATION
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• The common symptoms of cancer of the head and neck include
o persistent pain in the throat
o pain on swallowing  odynophagia
o difficulty swallowing  dysphagia
o persistent hoarseness or a change in voice
o referred pain to the ear
o bleeding in the mouth or throat
o enlarging neck node
o persistent ulceration, leukoplakia (white patch) or erythroplakia (red patch)
• Half of all head and neck cancers originate in the oral cavity  sores or lesions in the mouth can be warning
signs  any white or red lesion that does not heal or disappear in 2 weeks should be evaluated by a specialist
and considered for biopsy
• Weight loss is an unusual symptom of head and neck cancer  if present is secondary to dysphagia, or
odynophagia  if weight loss is a predominant symptom other diagnoses should be considered such as lung,
stomach or other systemic cancers
• Squamous cell head and neck cancers tend to be localised to the head and neck region unless very advanced
 however second synchronous tumours (particularly in the lungs) and may be present in up to 10% of cases
• Other possible signs/symptoms of head and neck cancer include:
o lump or thickening in oral soft tissues
o soreness or feeling that something is stuck in the throat
o difficulty chewing or opening of mouth
o difficulty moving the tongue
o numbness of the tongue or other parts of the mouth
o swelling of the jaw that causes dentures to fit poorly or become uncomfortable
• Anyone experiencing such symptoms for more than 2 weeks should see their GP or dentist as soon as possible
for a thorough examination  if a diagnosis cannot be obtained, the patient should be referred to a specialist
DIAGNOSIS
• Establishing a diagnosis for head and neck cancers typically begins with taking a detailed history and an
examination of the upper aerodigestive tract
• A fine needle aspiration for cytology (FNAC) may be performed in clinic on any neck nodes or other lumps 
in some centres FNA is performed under ultrasound or CT guidance
• The initial assessment is usually followed by investigations including:
o CT / MRI of neck from skull base to thoracic inlet
o CXR or CT chest
o Blood tests  U&E, FBC, LFT, Glucose, Albumin, TFT
o ECG
o Assessment of nutritional status
• The diagnosis must be confirmed with biopsy of any identified suspected cancerous lesions or tumours  this
involves usually detailed examination of the upper aerodigestive tract (panendoscopy) with biopsies of any
suspicious areas usually under general anaesthetic  in some cases the biopsy can be performed in the
outpatient department
• The results of the above investigations are presented to the head and neck oncology multidisciplinary team 
the team will discuss the treatment options and recommend a treatment plan to the patient
MOUTH CANCER
• Mouth cancer is the most common type of head and neck cancer  SCCs are common in the mouth  can
affect inner lip, tongue, floor of mouth, gingivae (gum) and hard palate
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• Most commonly associated with tobacco use and heavy alcohol intake
• Symptoms include persistent mouth ulcers and/or a lump in the mouth  both of which may be painful
• Cancers in the mouth are more frequently treated with surgery than any other area in the head & neck 
surgeries include  often repaired using skin grafts
o Maxillectomy
o Mandibulectomy
o Glossectomy
o Radical neck dissection
o Mohs procedure
NASOPHARYNX CANCER
• Nasopharynx is defined as the region in which the nasal cavitites and the Eustachian tube connects with the
upper part of the throat
• Some tumours have a similar histology to other cancers of the head and neck  eg. squamous cell carcinoma
 however, poorly differentiated nasopharyngeal carcinoma known as lymphoepithelioma is also possible 
this has a distinct clinical presentation and therefore treatment  may be treated as a separate disease by
experts
• Nasopharyngeal cancer is one of the rarest types of head and neck cancer in the UK
o A lump in the neck  due to the cancer spreading to the lymph nodes
o A blocked nose
o Epistaxis
o Hearing loss  usually only one ear
• Risk factors  nickel and hard wood occupations
OROPHARYNX CANCER
• Oropharyngeal squamous cell carcinoma begins in the oropharynx  the middle part of the throat that
include the soft palate, the base of the tongue and the tonsils
• Squamous cell cancers of the tonsils  strongly associated with HPV infections  have a more positive
prognosis than those that are HPV –ve
• People with oropharyngeal carcinomas are at high risk of developing secondary primary head and neck cancer
• Most common symptoms
o A lump in the neck
o A persistent sore throat
o Difficulty swallowing
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HYPOPHARYNX CANCER
• Hypopharynx is the part of the throat connecting the oropharynx with the oesophagus and trachea  include
the pyriform sinuses, the posterior pharyngeal wall and the post-cricoid area
• Tumours of the hypopharynx frequently have an advanced stage at diagnosis  have the most adverse
prognoses of pharyngeal tumours  tend to metastasise early due to extensive lymphatic network around
the larynx
LARYNX CANCER
• Laryngeal cancer develops in the larynx (voice box)  cancer may occur on the vocal cords or on tissues
above and below the cords  eg. supraglottic and subglottic respectively
• Symptoms of laryngeal cancer include
o A change in voice  such as persistent hoarseness
o Difficulting or pain when swallowing
o Noisy breathing
o Persistent cough
o Lump or swelling in the neck
• It is strongly associated with tobacco smoking
• Surgery can include
o Laser excision of small vocal cord lesion
o Partial laryngectomy
o Total laryngectomy  permanent tracheostomy
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SALIVARY GLAND CANCER

• There are three main pairs of salivary glands
o Parotid glands  located between cheeks and ears
o Sublingual glands  located under tongue
o Submandibular  located under each side of the mandible
• Salivary gland cancer most commonly affects the parotid glands  the main symptoms is a lump or swelling
on or near the jaw, or in the mouth or neck  although the vast majority of these lumps are non-cancerous
 other symptoms include unilateral numbness or facial drooping
NOSE AND SINUS CANCER

• The symptoms of nose and sinus cancer are similar to viral or bacterial infections
o A unilateral persistent blocked nose
o Epistaxis
o Decreased sense of smell
o Mucus running from the nose or down the throat
TREATMENT OF HEAD & NECK CANCER

• Head and neck cancer is a complex subject  with many different sites and staging systems  however,
current therapy offers several alternatives, including  either alone or in combination
o Surgery
o Radiation
o Chemotherapy
• NB  treatment can be divided into curative or palliative
• Combined modality therapy is becoming the principal method of treating patients with locally advanced head
and neck cancers  the most suitable treatment plan is discussed at a MDT meeting after reviewing all the
results of the investigations and the general performance status of the patient
STAGING
• The stage of a cancer is determined by its size, the location of the primary tumour in the body and whether it
has spread to other areas of the body  lymph nodes or other organs e.g. lungs, liver and bone and skin
• Staging involves using the letters T, N and M to assess tumours by:
o the size of the primary tumour (T)
o the degree to which regional lymph nodes (N) are involved
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o the absence or presence of distant metastases (M)
• Each of these is categories is further classified with a number 1 through 4 to give the total stage  thus a T1-
N1-M0 cancer would describe a T1 tumour, N1 lymph node involvement, and M0 no distant metastases
• Once the T, N and M are determined, a "stage" of I, II, III or IV is assigned:
o Stage I cancers are small, localized and usually curable.
o Stage II, III and IV cancers typically are locally advanced and/or have spread to local lymph nodes
and/or have distant metastasis.
• The staging system for head and neck cancers is a bit complicated  though the nodal and metastasis staging
systems are the same for all the different anatomical regions of the head and neck  the tumour staging
systems are different  the nodal and metastasis staging systems are outlined below.
• Below is a description of the common nodal and metastasis staging systems and a table that shows how
tumour stage and nodal/metastasis stages can be combined to approximate the overall stage of a patient,
wherever the primary tumour is located
Nodes Metastasis
Presence of distant metastasis cannot be
NX: Regional lymph nodes cannot be assessed. MX:
assessed
N0: No evidence of regional lymph node metastasis. M0: No evidence of distant metastasis
N1: Metastasis in a single ipsilateral lymph node, 3 cm or

M1: Distant metastasis present
less in size
N2a: Metastasis in a single ipsilateral lymph node more than

3 cm but not more than 6 cm in greatest dimension.
N2b: Metastasis in multiple ipsilateral lymph nodes, none

more than 6 cm in greatest dimension.
N2c: Metastasis in bilateral or contralateral lymph nodes,

none more than 6 cm in greatest dimension.
N3: Metastasis in a lymph node more than 6 cm in greatest

dimension.
General summary of staging system
NO N1 N2a N2b N2c N3

T1 Stage I Stage III Stage IVa Stage IVa Stage IVa Stage IVb
T2 Stage II Stage III Stage IVa Stage IVa Stage IVa Stage IVb
T3 Stage III Stage III Stage IVa Stage IVa Stage IVa Stage IVb
T4 Stage IVa Stage IVa Stage IVa Stage IVa Stage IVa Stage IVb
• Note that for all Stages I through IVb, the metastasis stage is MX or M0  regardless of tumour size or stage
of lymph node involvement, the presence of distant metastasis automatically indicates Stage IVc.
• Cancer that returns or develops again after all visible evidence of a tumour has been eradicated through
treatment is called recurrent disease  disease that recurs in the area of the original or primary tumour is
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called locally recurrent  that which recurs as metastases is referred to as a distant recurrence  distant
recurrence is usually treated as Stage IV disease
• The staging system of laryngeal squamous cell carcinomas is listed below.
Staging Supraglottic Tumours

TX Primary tumour cannot be assessed
Tis Carcinoma in situ
T1 Tumour confined to site of origin with normal mobility of vocal cords.
T2 Tumour involves adjacent supraglottic site(s) or glottis without fixation of vocal cords.
T3 Tumour limited to larynx with fixation of extension to involve postcricoid area, medial wall of pyriform sinus, or
preepiglottic space.
T4 Massive tumour extending beyond larynx to involve oropharynx, soft tissues of neck, or destruction of thyroid
cartilage.
Glottic Tumours
T1 Tumour confined to vocal cord(s) with normal mobility.
T2 Supraglottic or subglottic extension of Tumour with normal or impaired cord mobility.
T3 Tumour confined to the larynx with cord fixation.
T4 Massive Tumour with thyroid cartilage destruction or extension beyond the confines of the larynx.
Subglottic Tumours
T1 Tumour confined to the subglottal area.
T2 Tumour extension to vocal cords with normal or impaired cord mobility.
T3 Tumour confined to the larynx with cord fixation.
T4 Massive tumour with cartilage destruction or extension beyond confines of larynx, or both.
Demonstrate a knowledge of leukoplakia

• Leukoplakia are white patches adhering to the oral mucosa that cannot be removed by rubbing  they are
usually asymptomatic  represent a hyperkeratosis of the oral keratosis
• This is usually associated with local irritation  e.g. smoking, alcohol, dentures and strong spices  3% of
these lesions will undergo malignant change over 5 years
• The problem is found in less than 1% of people  most commonly between the ages of 50 to 70  it is more
common in men than women with a ratio of 2:1
• The patches are most commonly found on the tongue and are bright white with sharply defined edges  the
patches are slightly raised above the normal mucosa  erosions or ulceration can occur and are a sign of
malignant change
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• Management is first by general measures  such as stopping smoking and drinking  retinoids have been
shown to be effective in some cases  surgical excision is also an option
• Another form of this condition is hair leukoplakia  associated with HIV and EBV  it is often asymptomatic
but some symptoms may include mild pain, dysaesthesia, alteration of taste and cosmetic impacts 
treatment is via antiviral therapy, topical retinoids and surgery  vigorous brushing off the tongue can also
help remove these.
Demonstrate a knowledge of erythroplakia

• These are red patches in the mouth that cannot be attributed to any other pathology  it is often associated
with dysplasia  hence a precancerous lesion
• Most are found in the floor of the mouth, the tongue and the soft palate  it is red and macular/papular with
well defined borders and has a soft/velvety texture  n adjacent area of leukoplakia may be noticed
• Treatment involves biopsy and surgical excision
Be able to understand the stages of swallowing and how these will be affected by disease
• The act of swallowing is a complex co-ordinated reflex action  which is usually initiated voluntarily but is for
the most part completed as an orderly sequence of reflexes usually in seconds
• The primary function of deglutition is the transfer of solid and liquid food from the buccal cavity to the
stomach
• The swallowing mechanism is described in three stages:
o the oral or voluntary stage
o the pharyngeal stage  involuntary stage
o the oesophageal stage  involuntary stage
• These three stages correspond to the three anatomical regions which the bolus of food passes  but it must
be emphasised that swallowing is a continuous and integrated manoeuvre  the initiation of the first phase
inevitably leading to the automatic completion of the whole process
• There are two terms used to describe the symptoms to which patients ascribe to their swallowing.
o Dysphagia  is difficulty with the swallowing mechanism  it is defined as “difficulty with the act of
swallowing, precipitated by pharyngeal movement, which occurs within 5 seconds of having initiated
that movement”  this symptom is active and associated with swallowing
o Globus Pharyngeus  is the sensation of pressure or tightness of or in the throat  nothing present
in throat, so is a diagnosis of exclusion  is not associated with the act of swallowing and frequently
is relieved by swallowing
• Touch sensation is present in the pharynx as far as the level of the cricoid
• Thermal sensation is present in the pharynx and throughout the whole length of the oesophagus
• Pain receptors in the form of free naked nerve terminals are present in the pharynx and oesophagus  the
usual noxious, traumatic stimuli, cutting, crushing, burning and inflammation produce pharygeal pain, which
cause cutaneous pain  inflammation of the pharynx lowers the pain threshold locally and light contact or
swallowing movements will cause pain from the inflamed mucosa
• A good history is generally all that is required to make a working diagnosis of swallowing problems 
radiology is helpful and needs to be tailored to the investigation of the symptoms, rather than the x-ray
providing an explanation for the symptoms
• Remember that there are structural abnormalities that require and can be diagnosed by contrast swallow
(Barium Swallow) and physiological abnormalities that require a cine swallow (Dynamic Contrast Swallow or
videofluroscopy)
Be able to take a relevant history and complete an examination for the head and neck
HEAD & NECK HISTORY
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• History
o Dsyphagia  difficulty in swallowing
▪ Local spread of malignancy to digestive tract
o Odynophasia  painful swallowing
o Voice changes (dysphonia)  hoarseness
o Lumps
▪ Lymph  primary or secondary]
▪ Thyroid  hypo or hyper
▪ Branchial cyst  congenital is 20-30y/o
▪ Dermoid cysts
▪ Haemangiomas/lymphangiomas
o Ulcers  leukoplakia
o Otoalgia  referred
o Duration, perisistence, progressions
• Lumps
o Location  central, anterior or posterior triangle
EXAM
• Oral cavity & oropharynx
• Salivary glands
o Antiseptic  IgG
o Aids in digestion
o pH  neutral
o Aids swallowing and formation of food bolus
• Inspection  from outside in
o Lift lips  look in sulcus
o Teeth  buccal gingiae cavity
o Hard & soft palate
o Tongue
▪ Phenulum
▪ Submandibular and sublingual gland openings
o Cheeks
▪ Parotid glands opens next to 2nd molar (excluding wisdom teeth)
▪ Retromolar trigone
o Arches  palatine tonsils sits inbetween
▪ Anterior arch  palatoglossal arch
▪ Posterior arch  palaopharyngeal arch
• Palpation
o Parotid  finger inside and outside on gland  feel for stones
o Submandibular  find on outside  feeling for smooth and tender
• Neck examination  use triangles  important due to lymph drainage
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OTOLOGY
915
Be able to ask specific questions and examine the ears in a rhinology patient
OTOLOGY HISTORY
• History of presenting complaint
o H  changes in hearings
▪ Bilateral or unilateral
▪ Acute or chronic
▪ Progression
o O  otoalgia – ‘ear pain’
▪ SOCRATES
▪ Onset
▪ Referred  specifically from throat  eg. tonsillectomy or MALIGNANCY (laryngeal or
pharyngeal)
▪ Associated symptoms
o O  otorhoea  serous, blood, pus or CSF
▪ Otitis media  pain until discharge
▪ Otitis externa  constant pain and discharge
▪ Bilateral or unilateral
o T  tinnitus  perceived sound stimulus in the absence of a sound stimulus  ringing or ticking
▪ Noise induced hearing loss
▪ Wax impaction  not common
▪ Infection
▪ Trauma
▪ Ototoxic drugs  gentamicin and vancomycin
▪ Menieieres  hearing loss, tinnitus and vertigo
▪ ***Vascular (pulsatile – wooshing)  in tandem with heart beat  eg carotid stenosis or
aneurysm
o Vertigo  sense of spinning
▪ Duration
▪ Associated symptoms
▪ What do they mean
• Family history  Menieres or Otosclerosis
• Drug history  Gentamicin, vancomycin, furosemide
• Social history  noise exposure, work, hobbies
• Past surgical history  previous otolaryngeal surgery
• ICE  vertigo, pain, tinnitus
• Systems review
o Neurological  vision, migraine, speech
o Respiratory  infection
• *** Objective  exemption to rule
EAR EXAM
• Always ask about pain  start on normal ear
• Inspection  outer ear
o Pinna
o Pre-pinna
o Behind pinna  including mastoid
• Palpation
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o Tragus for tenderness (otitis externa)
o Mastoid  for mastoiditis
o Lymph nodes
• Otoscopy
o Turn on and check light
o Hold otoscope like a pen
o Little finger rests on face (cheek)
o Hold left for left and right for right hand
o Back and up (adult) or down (children)
o Go in as far as speculum past hair cells
o Look at acoustic meatus
o Move up, down, left and right to view entire tympanic membrane
▪ Hand of malleus
▪ Flaccid (attic) and tense part
▪ Hand of Malleus always points forwards
• Tuning fork  256Hz or 512Hz
o Rinne’s test  bone conduction < air conduction
▪ Only checks for conductive
▪ Normal is +ve test
▪ Abnormal is –ve test
• False –ve  dead ear  use masking to identify
o Weber’s test  centre of the head  does it localise
▪ Conductive  localises to injured ear
▪ Sensorineural  localises to opposite ear
• Facial nerve  check using muscles of facial expression
Demonstrate an understanding of Rinne’s and Weber tuning fork tests, the common autiometric patterns on pure tone
audiometry and typanometry
RINNE’S AND WEBER’S TEST
• When using tuning forks it is important to use the correct frequency for hearing (512Hz)
• Rinnes and Weber tests help us to determine whether a hear loss is unilateral or bilateral and whether it is
conductive, sensorineural or mixed
• Weber’s test  here the tuning fork is placed on the patient’s forehead, nasal bridge or upper teeth (not
dentures!) and the patient is asked where sound is heard best  results can be as follows:
o Unilateral or asymmetrical hearing loss
▪ Conductive type = localizes to the affected (worse hearing) ear
▪ Sensorineural type = localizes to non-affected (better hearing) ear
o Bilateral or symmetrical loss of either type where the sound is heard equally in both ears  this can
also show hearing is normal
• Rinne’s test  this is to determine if sound is heard best through air conduction or bone conduction  the
tuning fork is held next to the mastoid process for a few second and then placed in front of the ear  the
patient is then asked which they can hear better  the results can be summarised as follows:
o Rinne positive (AC>BC) = normal response or the response for sensorineural hearing loss
o Rinne negative (BC>AC) = a conductive hearing loss in the test ear
o Rinne false negative = if the test ear has profound sensorineural hearing loss then the opposite ear
may pick up some of the sound and give a false picture of conductive loss  here a masking noise
should be used
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PURE TONE AUDIOGRAMS
• Pure tone audiograms are the most commonly performed hearing test and help determine a patients hearing
threshold
• Tones are played through a set of headphones at varying volumes and the patient is asked to respond when
they hear a noise  one ear is done at a time and sometimes masking can be used on the other ear
• Sound can also be delivered by a bone vibrating device to assess bone conduction
• In the left ear air conduction is labelled X and bone conduction ] whilst in the right ear air conduction is O and
bone conduction [
• A normal picture is all frequencies between 0 and 20 dB in both air and bone conduction
CONDUCTIVE
Air/bone gap >15dB SENSORINEURAL
Air/bone gap <15dB
MIXED
Both <20dB
OSSICULAR LOSS PRESBYCUSSIS FAMILIAL

Carharts notch Loss of higher Hz
Cookie bite
DEAD EAR
NOISE INDUCED
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TYMPANOMETRY
• Tympanometry measures the compliance/stiffness of the eardrum, as well as ear canal volume and the
pressure within the middle ear
• The probe is inserted into the ear and has three channels
o A speaker
o A microphone
o A device to vary pressure
• Maximal sound energy passes through the ear drum when the pressure in the ear canal is the same as the
middle ear  hence a peak should be seen on the graph at 0  but normal ranges between -100 and +100
• A negative middle ear pressure forces the graph to the left and fluid in the middle ear gives a flat trace  an
excessively tall peak can indicated a hyper mobile drum such as in ossicular discontinuity
• Overview
o Canal volume  give in ml  >2ml suggests perforation
o Height  compliance of eardrum/resistance behind eardrum
o Location  amount of pressure in the middle ear
NORMAL TUBE DYSFUNCTION GLUE EAR
OSSICULAR DISARTICULATION
PERFORATION OTOSCLEROSIS
Understand the basic pathophysiology, diagnosis and management of Presbyacusis

• Presbyacusis is a term applied to hearing loss due to ageing  most common cause of sensorineural deafness
 it is a degenerative disorder  atrophy of the labyrinthand cochlear nerve fibres cause this condition
• It is usually bilateral and symmetrical  the age of onset is variable, but fifty years of age is considered the
lower limit of on-set  characterised by a gradual hearing loss in both ears with or without tinnitus
• Audiometry often reveals a high frequency loss  the high frequencies are crucial for speech intelligibility 
consonants ('d', 'n', 't', '1','s'), which act as the 'stop gaps' in speech are generally in the high frequency range
 vowels tend to be low frequency and are less important for understanding speech
919
• By removing consonants (high frequency) from the sentence, no intelligible message remains  removing
vowels (low frequency) has much less effect  thus, many of these patients complain that while they know
people are speaking they cannot understand what is being said  they often say that words merge one into
the other or that the speech is 'muffled'  they function well on a 'one to one' basis but have great difficulty
with group conversation and when there is background noise
• Many patients are concerned that they may lose their hearing completely and reassurance on this front is
important  emphasising their good low and mid frequency hearing is good for morale
• It is also very useful to explain to patients and their relatives the special problems caused by high frequency
hearing loss as this makes all parties more tolerant
• There is no cure but a hearing aid can help by amplifying sound and masking the tinnitus
Understand the basic pathophysiology, complications, diagnosis and management of Cholesteatoma

• This is a cyst or sac of keratinizing squamous epithelium (skin)  most commonly occurs in the attic or
epitympanic part of the middle ear
• This will frequently cause chronic foul smell discharge  as a result, it is classified as a subtype of CSOM
(chronic suppurative otitis media)
• Signs and symptoms include
o Foul smelling discharge  due to anaerobic bacteria
o A conductive hearing loss
o An attic retraction filled with squamous debris
o A discharging attic perforation
o Attic aural polyps
• Patients may also present solely with a complication of Cholesteatoma  such as facial palsy, vertigo and
intracranial sepsis
• Aetiology is unknown  but it is not thought to be congenital  the most common theory is that a negative
pressure in the middle ear has its maximal effect on the pars flaccida of the tympanic membrane  this
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causes it to balloon backwards forming a retraction pocket and trapping the outer layer of epithelium  this
ball of squamous debris slowly enlarges and invariably becomes infected with pseudomonas
• It tends to grow upwards into the attic region and backwards into the mastoid  this condition is able to
erode bone  so all important structures in or around the middle ear and mastoid are at risk  these include
o Ossicles  causing a conductive deafness of 50dB or more
o Lateral semicircular canal  causing vertigo
o Facial nerve  causing facial palsy
o Labyrinth/cochlear  causing a sensorineural hearing loss (total or partial)
o Roof of the middle ear  causing intracranial sepsis
o Sigmoid sinus  causing it to thrombose
• Treatment is surgical removal  but the operation required depends upon the extent of the disease 
usually involving the mastoid
Understand the basic pathophysiology, diagnosis and management of Glue ear (otitis media with effusion)
ACUTE OTITIS MEDIA
• Otitis media  is an inflammation of the middle ear characterised by the formation of an effusion which can
be sterile (as in glue ear) or suppurative (as in acute otitis media)
• Repeated attacks can lead to weaking of the ear drum and eventually a perforation which is non-healing 
this is now chronic suppurative otitis media (CSOM)
• Acute otitis media is common in children  usually associated with an infection of the upper respiratory tract
 which spreads to the middle ear via the eustachian tube  an accumulation of pus in the middle ear leads
to pressure on the tympanic membrane and hence pain  rupture of the membrane leads to otorrhoea and a
rapid reduction in otalgia
• Other symptoms include
o Hearing loss (conductive)
o Otoalgia
o Otorrhoea
o Pyrexia
o Systemic upset
• Treatment is with antibiotics and simple analgesia  if a perforation occurs then the ear must be kept dry
until it has healed  in a discharging ear the use of antibiotic and steroid ear drops can help  nasal
decongestants may help speed up recovery
OTITIS MEDIA WITH EFFUSION (GLUE EAR)

• A secretory otitis media  the underlying basis is poor ventilation of the middle ear cavity  which leads to
sterile (non-purulent) and often thick and sticky effusion  viscous properties are due to mucus glycoproteins
(mucins)
• Possible causes include
o A sequelae of acute otitis media
o Infection or allergy of the middle ear mucosa
o Eustachian tube dysfunction
• Glue ear affects 70-80% of children at some point in their lives and most resolve spontaneously  in a small
but significant number it may last months or years  most common in children who have large adenoids,
previous acute suppurative otitis media or a cleft palate
• It usually leads to a mild hearing loss of between 10-40dB  in the long term this can disrupt the child’s
behaviour, development and schooling  a chronic effusion also predisposes to repeat attacks of acute otitis
media as a result of infection spreading from the Eustachian tube
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• There is a high spontaneous resolution rate  if glue ear is confirmed at the first attendance at the ENT Clinic
the child is re-evaluated at 3/12  if it does not resolve over 3 months and if it is symptomatic then
treatment may be required  currently the treatment consists of the insertion of grommets although hearing
aids are an alternative
• The function of the grommet (tympanotomy tube) is to aerate the middle ear not to drain it  there is no
evidence that swimming in treated water is harmful to children with grommets in situ
• Grommets will extrude spontaneously, on average in 9 months  but retention for 2 years is not unusual.
• Persistent OME may result in thinning of the tympanic membrane give rise to retraction pockets and collapse
of the tympanic membrane  20% of children will need a second grommet insertion for recurrent OME
• In an adult it may be unilateral when carcinoma of the postnasal space obstructing the Eustachian tube orifice
needs to be excluded
• Decongestants and antihistamines have no beneficial effect  meta-analysis showed antibiotics to have a
marginal effect  this would probably disappear is there are negative trials that have not been reported.
• Decision to treat is primarily based on the adverse affects of the hearing loss, social, educational or speech
deficits (mispronouncing words), repeated attacks of acute otitis media or development of eardrum sequela
• Adenoidectomy appears to reduce the risk of recurrence but is not usually performed at the first grommet
insertion  tonsillectomy has been shown to be of no benefit in treating glue ear
CHRONIC SUPPURATIVE OTITIS MEDIA (CSOM)

• Prolonged and repeated bouts of otitis media in childhood can cause damage to the tympanic membrane and
a non-healing perforation may occur
• Symptoms can include hearing loss and otorrhoea  the hearing loss is usually 10-20dB if the tympanic
membrane is involved  but this can be up to 50-70dB if the ossicles are disrupted
• Treatment is regular aural toileting and a combination of antibiotic and steroid ear drops  surgical repair of
the ear drum may also be necessary
ACUTE MASTOIDITIS
• Acute mastoiditis is a fairly uncommon complication of AOM these days  however it is a serious condition
which can cause significant long-term morbidity and even mortality
• Infection spreads from the middle ear cavity and pus forms in the mastoid air cells causing bony erosion 
the pus may spread out through the bone either subperiosteally or into the subcuticular region in the
postauricular region
• A typical history is of an AOM that fails to settle associated with persistent otalgia, otorrhoea and hearing loss
 aunilateral headache should ring alarm bells as it may be a sign of the development of an intracranial
complication
• The patient is frequently systemically unwell  the canal may be full of pus and a polyp may be seen through
a perforated tympanic membrane
• Other classic signs
o Sagging of the postero-superior canal wall
o Tenderness over the bone immediately above the ear canal (McEwen’s triangle)
• If the pus breaks through posteriorly the skin becomes oedematous and erythematosus and the pinna may
become pushed forward
• In the early stages the patient may be treated with high does IV antibiotics in hospital  but if it does not
settle within 48hours or complications arise e.g. subperiosteal abscess, facial nerve palsy, labyrinthitis,
petrositis (spread medially into the petrous bone causing Vth and VIth cranial nerve palsies) or spread outside
the temporal bone, the patient should have a cortical mastoidectomy
Understand the basic pathophysiology, diagnosis and management of Otosclerosis

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• This is a disease of the otic capsule or bony labyrinth  causes hearing loss
• The hard, compact bone of the labyrinth is replaced by patches of spongy bone  this abnormal bone is
thought to produce toxins which can affect the cochlear and cause sensorineural hearing loss  however,
more commonly the bony overgrowth affects the footplate of the stapes which results in its fixation and leads
to conductive hearing loss
• Aetiology is unknown  but is thought to be a familial condition which is Mendelian dominant with
incomplete penetration  it is thought that up to 1/100 people have this condition but only a minor
proportion of people are symptomatic
• The hearing loss is bilateral and begins at around the age of 30  with symptoms being worse during
pregnancy for women
• An unusual symptom called paracusis willsii (hearing better with background noise) can occur in these
patients  tinnitus and positional vertigo can also be additional problems
• This diagnosis should be considered in patients who present with a conductive hearing loss and a normal ear
drum  the only way to conclusively diagnose this is by surgical examination of the stapes footplate with the
most common problem being adhesion/fixation
• Treatment can be simply observation if mild or a hearing aid if symptomatic  a large conductive loss can be
treated by replacing the stapes with a Teflon piston (stapedectomy) and this can give dramatic results 
small risk of developing a sensorineural deafness after surgery
• Otosclerosis. It is characterised by spongy bone formation around the oval window and as it grows it fuses
with the stapes causing a conductive deafness.
Understand the basic pathophysiology, diagnosis and management of Noise induced hearing loss
• A loud auditory stimulus can cause a mild hearing loss and tinnitus that quickly resolves  repeated traumas
of this type can cause permanent symptoms  a similar acoustic trauma can also arise from a very loud noise
such as an explosion
• Sensorineural hearing loss is most common due to but conductive loss should also be considered due to
tympanic membrane rupture or middle ear damage
• Temporary hearing loss is due to cochlear fatigue and is called a temporary threshold shift  this usually
occurs within 2 hours of exposure  with further exposure, a permanent threshold shift occurs
• In noise induced hearing loss tinnitus is often a prominent feature and the audiogram has a classical
appearance with the dip at 4kHz with gradual involvement of the lower frequencies with continued exposure
• The treatment is essentially supportive with tinnitus counselling and provision of a hearing aid where possible
 so prevention is most important
Understand the basic pathophysiology, diagnosis and management of Tinnitus

• Tinnitus can exist with a hearing loss due to any cause but may occur even with normal hearing  however it
is most often a feature of sensorineural loss  most people will experience tinnitus at some point in their life
and it is mostly transient and a minor problem
• Subjective (intrinsic) tinnitus is a hallucination of noises in the head or ears  it is a description of a symptom
and not a diagnosis  it may occur on its own or be associated with hearing loss and vertigo  in certain
unfortunate patients it can prove to be almost unbearable and drive them to distraction  some such
patients have committed suicide  short bursts of tinnitus <15 minutes are physiological as a result of outer
hair cell activation
• Intrinsic causes include
o Drugs o Presbyacusis
o Labyrinthitis o Meniere’s disease
o Trauma o Noise induced
o Vascular o Otosclerosis
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o Idiopathic o Vestibular schwannoma
o Temporal love epilepsy
• Objective (extrinsic) tinnitus is a noise in the head or ears that can be heard by another individual  examples
include the regular clicking of the soft palate in palatal myoclonus and vascular bruits
• Bilateral tinnitus  patients need reassurance and advice on coping strategies  the most important is
masking the tinnitus with environmental noise  e.g. radio, i-pod etc.
• Unilateral tinnitus  needs investigating as may be an early sign of vestibular schwannoma tinnitus often
starts in one ear then occurs in the other  no evidence but tinnitus that has been unilateral for one year or
more should be investigated
• Counselling patients is perhaps the most important aspect of management  for those with hearing
impairment, a hearing aid may be invaluable (by hearing better, the patient 'ignores' the tinnitus)  if getting
off to sleep is a problem, using the 'snooze' facility on a clock radio may be helpful  in others, night time
sedation may be required
• Tinnitus maskers are also an important adjunct to therapy  self help and support groups are useful and help
to maintain morale
Understand the basic pathophysiology, diagnosis and management of Ménière’s

• The characteristic quartet of symptoms in this condition are episodic
o Hearing loss
o Tinnitus
o Vertigo
o Aural fullness
• Ménière’s attacks can occur at any time  usually give rise to acute spinning vertigo for 30 minutes to 4
hours  the vertigo is often disabling and very acute in onset  nausea and vomiting may occur and
nystagmus is present during attacks
• The patient often has to remain in bed until the episode has passed and will often feel a little off balance for
the next few days
• The hearing loss is sensorineural in type  in the early stages of the disease, affects the lower frequencies
and returns to normal after the attack
• Tinnitus and a feeling of fullness or pressure in the affected ear may precede the attacks
• The disease is usually unilateral initially  but can become bilateral  these attacks can occur in sporadic
bursts or may occur only very occasionally
• Over the course of the condition  the hearing loss and tinnitus become permanent
• The unreliability of the attacks and their ability to render patients prostrate often leads to some anxiety 
may seriously curtail the patient’s daily activities
• Distension of the membranous labyrinth or endolymphatic hydrop  postulated as the underlying cause of
this condition  however, the exact aetiology remains unknown
• It is thought that attacks occur due to small ruptures in Reissner’s membrane leading to mixing of the endo-
and perilymph  or as a result of a sudden release to an obstruction in endolymphatic circulation, thus
causing vertigo  which settles as the inner ear fluids stabilize once more
• Endolymphatic hydrops can also occur in other conditions of the inner ear  such as syphilis, labyrinthitis,
head injury and vascular occlusions  however, this tends to be non-progressive, unlike in Ménière’s disease,
which often follows an unremitting course, until the labyrinth is non-functional
• The diagnosis is strongly suggested by the clinical history  but it is important to exclude other causes of
vertigo  such as epilepsy, multiple sclerosis, tumours, vascular disease, labyrinthitis and BPPV
• In the acute phase  the treatment of Ménière’s disease consists of vestibular sedatives
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• In the long term  betahistine (a vasodilator), diuretics, avoidance of caffeine and salt, and reassurance can
reduce the number of attacks and increase the patient’s ability to cope with attacks
• If the disease becomes debilitating  ablation may be considered  this brings an end to the fluctuations in
vestibular function by destroying the affected labyrinth chemically with gentamicin injection, or surgically by
drilling out the inner ear or cutting the VIII nerve  however, one has to hope that the condition does not
affect the other ear in the future
Understand the basic pathophysiology, diagnosis and management of Acoustic Neuroma/Vestibular Schwannoma
• These are benign tumours that arise from the auditory nerve  the earliest symptom they produce is
unilateral hearing loss or tinnitus
• Early diagnosis is crucial as the mortality and morbidity from surgery is directly related to tumour size  for
instance, small tumours can he removed with preservation of the facial nerve (and sometimes hearing)  the
removal of large tumours can compromise the blood supply to the brain stem and preservation of the facial
nerve is only rarely possible  all complications are thus formidable
• Most patients with acoustic neuromas in the U.K. present with neurological symptoms (i.e. large tumours)
rather than with hearing loss  a major factor is 'doctor delay' in referring these patients for assessment
• Investigations:
o Pure tone audiometry
o MRI imaging or CT scanning
• Treatment  gamma–knife a sophisticated x-ray gun requiring one treatment surgery is now reserved for
patients with tumours greater than 3.5cm and patient preference  watch and wait on smaller tumours
Understand the basic pathophysiology, diagnosis and management of Otitis externa, furuncle and blunt trauma
• There are three types of otitis externa
o Diffuse
o Malignant
o Furuncle
DIFFUSE OTITIS EXTERNA

• This can be acute or chronic and is a common generalised inflammation of the external acoustic meatus
(EAM)
• The causes are often multifactorial and general skin conditions such as eczema can predispose to infection 
local factors such as trauma can also initiate this condition  the end result is a swollen and narrowed EAM
which is itchy and often acutely tender
• Typical symptoms include
o Ache or pain
o Otorrhoea
▪ Bacterial  pus and debris in EAM
▪ Fungal  dry or wet debris (looking like blotting paper) or yellow or black spores (Aspergillus
flavum or niger respectively)
▪ Viral  vesicles around introitus of EAM (Herpes zoster), soft palate or haemorrhagic vesicles
on tympanic membrane (‘bullous myringitis’) associated with thin, watery blood-stained
discharge
o Hearing loss  due to narrowing of the EAM
• The inflammation can spread to the auricle or surrounding facial tissue  causing facial oedema
• On examination the tragus is tender on movement  there may be some tenderness behind the ear  the
skin may crack and crust which increases the likelihood of a fungal infection occurring  chronically the skin
may become thickened or fissured and permanently moist
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• Treatment consists of an aural toilet and local medication  such as antibiotics or steroid ear drops 
antifungal agents and glycerine (to withdraw moisture) can be used  systemic antibiotics can be used if the
condition is severe
• When the problems begin to clear it is important to check for a middle ear infection as this is a common cause
of otitis externa
MALIGNANT OTITIS EXTERNA

• Malignant otitis externa is a more aggressive form of otitis externa  usually seen in the elderly and diabetics
• The causative organism is pseudomonas  which spreads to the bone and causes osteomyelitis of the skull
base  this can damage the facial nerve and those exiting through the jugular foramen (9, 10 and 11)
• This condition can be fatal  treatment needs to be prompt with high dose IV antibiotics and sometimes
surgical debridement
FURUNCLE OTITIS MEDIA

• A furuncle is a painful infection of one of the hair follicles of the outer 1/3 of the EAM usually due to
Staphylococcus  it usually arises after one of the hairs has been plucked or the EAM scratched
• The main sign is of a red swelling arise from one aspect of the outer wall of the EAM bulging into the meatus
• Treatment is with analgesia, astringents (such as glycerin and ichthammol)  antibiotics may help in more
severe infections when there is a lymphadenitis
BLUNT TRAUMA
• Blunt trauma is important to consider as this can lead to a haematoma  this blood clot, if not drained, can
cause dense scarring and thickening of the ear
• If infection occurs then necrosis of the cartilage and gross deformity may follow
Understand the basic pathophysiology, diagnosis and management of Pinna including haematoma, infections and
Chondrodermatitis Nodularis Helicis
TRAUMA
• A cauliflower ear is classically caused through a boxing or rugby injury or during other contact sports  it
results from bleeding which strips the vascularizing perichondrium from the underlying cartilage of the
external ear
• If it is not drained as a matter of urgency it can become infected or the cartilage can become ischaemic  this
can result in perichondritis, necrosis and later atrophy, distortion of the pinna and a cosmetic deformity which
is extremely difficult to reverse
• A perichondrial haematoma can simply be drained under local anaesthetic  after an incision, a wick or
corrugated drain should be inserted and pressure dressing applied to the ear as the haematoma has a
tendency to reform
• Prophylactic antibiotics should be given  if a pressure dressing cannot be applied or tolerated or in cases of
recurrence the perichondrium can be held in place by sutures placed through the full thickness of the ear and
tied over dental rolls
CHONDRODERMATITIS NODULARIS HELICIS

• Chondrodermatitis nodularis is inflammation of the skin and cartilage of the ear  causing a nodule  it is
common and harmless  but can be tender when touched
• The most important factor is pressure on the skin of the ear  usually from sleeping mainly on one side, but
can be idiopathic  other factors may include
o Damage from cold and the sun
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o Poor blood supply to the ear
• It affects middle-aged or elderly people  more common in men than in women
• The pain can be intense but is usually short-lived  typically, the discomfort occurs if the affected ear is lay
on in bed, when it can disturb sleep
• There is usually a single lump  often quite small (5-10 mm)  typically on the outer side of the upper part
of the rim of the ear  it may look red and its surface can be scaly or crusty  a small raw area or core is
often seen in the centre when the crust is removed
• The diagnosis is usually straightforward, based on the history, site and appearance of a tender lump on the
ear  if there is doubt, the nodule can be removed under a local anaesthetic (a biopsy) and checked in the
laboratory
• Try to avoid direct and prolonged pressure on the lesion  try to sleep on the other side  make sure your
pillow is soft, and consider modifying it by making a hole where the tender area presses into it
o Self-adhesive ‘blister’ style dressings can be used at night to relieve the pressure over the affected
site
o Avoid too much exposure to the cold and the sun.
o A corticosteroid may be applied as a cream, or injected into the nodule to try and reduce pain and
redness
o The lesion can be frozen off with liquid nitrogen
o Surgery  the chondrodermatitis may be removed by cutting it out, having first numbed the skin with
a local anaesthetic injection  occasionally, it can come back after surgery and so it is important to
avoid pressure on the ear afterwards
Demonstrate an understanding of sensorineural and conductive deafness

• A conductive hearing loss affects the passage of sound between the ear drum and the inner ear  sound
passes down the ear canal to the ear drum and through the middle ear, where the sound is transmitted across
the middle ear by the three bones called the ossicles to the inner ear
• A sensorineural hearing loss is defined as damage to the hair cells in the cochlea or damage to the neural
pathways of hearing  with this type of hearing loss it is not always possible to tell which part is damaged
and is therefore often listed together as sensorineural hearing loss
Demonstrate the specific methods of diagnosing conductive deafness in children

• Several methods can be used to test hearing, depending on a child's age, development, and health status
• During behavioral tests  an audiologist carefully watches a child respond to sounds like calibrated speech
(speech that is played with a particular volume and intensity) and pure tones  a pure tone is a sound with a
very specific pitch (frequency), like a note on a keyboard
• An audiologist may know an infant or toddler is responding by his or her eye movements or head turns  a
pre-schooler may move a game piece in response to a sound, and a junior school child may raise a hand 
children can respond to speech with activities like identifying a picture of a word or repeating words softly
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VERTIGO
Demonstrate an understanding and management of Vertigo
• Vertigo is an abnormal sensation of movement  when due to acute vestibular disease, this sensation is
often rotary in nature
• It is important to distinguish true vertigo from unsteadiness, faintness and other types of imbalance from the
history  cardiac and neurological disorders may give symptoms that patients describe as ‘dizziness’, but are
not actually vertiginous in nature
• Peripheral vertigo includes the ear and labyrinth  central vertigo – includes the cranial nerves and the brain
• In many cases labyrinthine causes for imbalance can be complicated by anxiety and the global deterioration in
sight, muscle tone and joint proprioception  which all form part of the ageing process  in such cases, a
carefully taken history starting with the very first time the patient remembers experiencing the sensation is
important
• The most important questions to ask are  ‘Do you/ did you experience a spinning sensation, similar to
getting off a roundabout as a child?’ and ‘How long did this spinning last?’
• Peripheral causes include the following: o Tumours, e.g. acoustic neuroma
o Labyrinthitis Multiple sclerosis
o BPPV o Head injury
o Ménière’s disease o Vascular occlusion
o Endolymphatic hydrops from other o Drug-induced
causes • Other causes of balance disturbance include
o Middle-ear diseases the following:
o Post-ear surgery o Cardiac insufficiency
o Post-trauma o Cervical spine disease
o Vascular insufficiency o Neurological disorders
o Drugs o Metabolic disorders  e.g. diabetes
o Dead labyrinth from any cause o Anaemia
• Central causes include the following: o Epilepsy
o Vestibular neuritis o Migraine
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Demonstrate an understanding and management of Vestibular Neuritis

• The VIII nerve leaves the inner ear via the internal auditory meatus to enter the brainstem at the
cerebellopontine angle (CPA)  in the brainstem, connections are made with the auditory and vestibular
nuclei
• Disease processes may affect the VIII nerve during its pathway from the cochlea  hence the term
retrocochlear pathology  leading to hearing loss, vertigo and tinnitus
• Inflammation of the vestibular portion of the VIII nerve leads to vertigo with similar symptoms to
labyrinthitis  the major cause of this is thought to be a viral infection (herpes)  the hearing is usually
unaffected
• Resolution occurs gradually over a period of weeks  with slow compensation
• Treatment  as with labyrinthitis, consists of vestibular sedatives and rest
Demonstrate an understanding and management of Labyrinthitis

• Labyrinthitis is an acute inflammation of the inner ear that usually follows a simple upper respiratory tract
infection  however, infection may spread to involve the labyrinth either from
o Middle ear infection
o Intracranial sepsis
o The bloodstream
• Vertigo is the most pronounced symptom and may be disabling  it can last for some days or even weeks
before beginning to settle
• Treatment of the acute event is with vestibular sedatives  such as prochlorperazine and rest
• Generally there is gradual labyrinthine recovery or compensation  and this process of rehabilitation may be
accelerated with special Cooksey–Cawthorne exercises
• There may be some residual imbalance occurring with rapid movements for some months after the initial
episode
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• In some cases the labyrinth may never regain full function  in such patients short episodes of
decompensation may occur years after the original injury  hese episodes occur most frequently in
challenging environments  such as on boat trips, on soft/ slippery/uneven ground, and in poorly lit areas 
where the remaining vestibular function fails to cope
• If the condition is severe  hearing loss may occur  it can even lead to total vestibular destruction  a so-
called ‘dead labyrinth’
Demonstrate an understanding and management of Benign Paroxysmal Positional Vertigo

• This is a condition characterized by episodic vertigo that occurs when the head is moved in certain position 
classically, it is brought on by turning in bed or looking up at an object  usually lasts only for minutes, but it
can remain for hours
• The episodes of BPPV may occur regularly for weeks or months before settling slowly  it can occur at any
age  probably one of the most common causes of vertigo
• Diagnosis is clinical  the diagnostic bedside test is the Dix–Hallpike manoeuvre  in this test the patient sits
on a couch facing the examiner  the patient then quickly lies flat and the examiner, supporting the patient’s
head, turns the head through 30 degrees and inclines it downwards  in a positive test, the symptoms are
reproduced and nystagmus is observed  the patient sits up, and after a short while the test is repeated 
turning the patient’s head towards the opposite side
• The nystagmus of BPPV has specific characteristics
o It is rotatory towards the underlying affected ear
o It has a latent period before starting
o The nystagmus fatigues  slowly settles and shows adaptation  lessens with consecutive tests
• BPPV is thought to be caused by dislodged otoliths settling in the posterior semicircular canal  with certain
movements causing irritation of the sensory epithelium and therefore vertigo
• Treatment is with reassurance that the disorder invariably settles spontaneously
• A complex series of head manoeuvres that may be performed in the clinic have been described  they
attempt to tip the displaced otoliths out of the semicircular canal (Epley’s manoeuvre)  in addition,
labyrinthine exercises (Cooksey–Cawthorne) can be used to speed up vestibular compensation in this and any
other cause of vestibular dysfunction
• Vestibular sedatives should be avoided as they will retard the compensation process  very rarely, surgery on
the posterior semicircular canal may be needed
Demonstrate an understanding and management of Presbycusis

• Presbycusis  a degenerative disorder  is the term used to describe the hearing loss of old age  it is due
to the gradual loss of outer hair cells of the cochlea
• The condition is characterized by a gradual hearing loss in both ears  with or without tinnitus
• The loss of the diversity of hair cell sound receptors leads not only to hearing loss but also ‘confusion in
sound’  typically, elderly patients complain that they struggle to hear clearly in background noise such a
hearing loss can be socially isolating
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• On pure-tone hearing tests  the hearing loss will affect the higher frequencies, leading to a typical
audiogram
• Poor hearing can make communication difficult and tinnitus can be distressing to some patients  there is no
cure, but a hearing aid can be of great help by amplifying sound and masking the tinnitus
• Presbystasis  aka disequilibrium
o A momentary feeling of unsteadiness, particularly in elderly people  these symptoms are thought to
be due to small vessel disease in the brain
o It is usually self limiting and may improve  but there are no satisfactory medical treatments for this
 there is no associated nausea or vomiting 
Demonstrate an understanding and management of Vestibular migraine

• This is basically a migraine with vestibular symptoms  dizziness may occur before, during or after the
migraine  this will vary depending if there is an aura or not  these symptoms usually last for 5-20 minutes
• This is a diagnosis of exclusion  other problems such as BPPV should first be excluded
• In basilar migraines there may also be ataxia, hearing loss and tinnitus  however auditory symptoms are
generally rare.
• Diagnostic criteria include
o Episodic vestibular symptoms
o Current or previous migraines
o Exclusion of all other causes
o Migraine symptoms during an attack of vertigo on at least two separate occasions
• Treatment is the same as for treatment of migraines in general
Demonstrate an understanding of an differentiate between vertigo originating within the inner ear and vestibular nerve,
or originating in the central nervous system, and presyncopal symptoms originating in the cardiovascular symptoms
• Dizziness is a non-specific term encompassing many sensations  e.g. vertigo, disequilibrium, light-
headedness, ataxia, diplopia or even a psychological dissociative feeling
• It is a symptom of many disorders and diseases and requires an especially thorough history in order to make a
differential diagnosis  the first task is to determine which of the three types of dizziness the patient has
CENTRAL
• That is from vestibular nuclei, brainstem and upwards  can be of a central nervous system or cardiovascular
origin  probably small vessel disease
• A feeling of momentary disequilibrium or tending to veer when walking is a common symptom in the over 60s
 this is thought to be ischaemic in origin and due to small vessel disease in the brain  it has been equated
with presbyacusis and called presbystasis.  
• Examples of central disease include
o Space occupying lesions
o Degenerative diseases
o Post-trauma
o Intoxication
o Vascular processes  
• Presentation is extremely varied but usually includes

o Ataxia
o Unsteadiness
o A gradual feeling of being off balance
o Rarely  nausea, vomiting, hearing loss or tinnitus
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• There should be other symptoms and signs of cerebella or brainstem lesions or other signs and symptoms of a
central lesion
CARDIOVASCULAR
• Feelings of faintness  ‘weak at the knees’
• General syncopal symptoms and are not uncommon in the over 60s  they may be associated with
hypertension (or its therapy), cardiac arrhythmia's, vasovagal attacks 
• Common causes include
o Postural hypotension
o Hypertension
o Arrhythmias
o Vasovagal
o Drugs
o Hyperventilation.  
• Presentation includes syncope, light-headedness, faints, unsteadiness, etc  
PERIPHERAL
• That is the labyrinth (semicircular canals, the saccule and utricle) and the vestibular nerve 
• These are characterised by sudden episodes of vertigo  almost always associated with nausea and vomiting
• Hearing loss and tinnitus may be present  hence point towards a cochlear problem
• Duration and presence or absence of hearing loss are clues towards diagnosis
• Causes include
o BPPV
o Meniere’s disease  triad of vertigo, tinnitus and hearing loss
o Vestibular neuronitis
o Drugs etc. 
Understand the clinical significance of nystagmus and how to test for it

• Nystagmus is an involuntary conjugated rhythmic to and fro movement of the eyes  is a clinical sign of
vestibular abnormality  peripheral vestibular nystagmus can be rotary or horizontal whilst vertical
nystagmus or nystagmus that changes direction is always a sign of a central lesion
• If the lesion destroys the labyrinth then the nystagmus is always away from the damaged ear  if it is an
irritative lesion then towards the affected ear  a cerebellar lesion results in a nystagmus to the ipsilateral
side and therefore the direction cannot be used to localise a lesion
• There are three degrees of nystagmus  the example is a sudden total vestibular failure in the right ear
o 3rd: nystagmus when looking left, right and straight ahead
o 2nd: when looking left and straight ahead
o 1st: when looking left
• Chronic nystagmus will gradually resolve due to compensation  but can still be elicited if optic inputs are
abolished  using Frenzel’s glasses
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FACIAL NERVE
Demonstrate a knowledge of anatomy of the facial nerve and how to test its function
• The facial nerve attaches to the lateral surface of the brainstem between the pons and medulla oblongata.
• The roots cross the posterior cranial fossa and leave the cranial cavity through the internal acoustic meatus.
• The roots enter the facial canal in the petrous part of the facial temporal bone where the geniculate ganglion
is formed  at this ganglion the greater petrosal nerve is given off which stimulates the secretormotor
activity in the lacrimal, submandibular and salivary glands
• The facial nerve continues along the canal and gives off the nerve to stapedius as well as the chorda tympani -
 provides taste to the anterior 2/3 of tongue
• The facial nerve then emerges on the medial surface of the middle ear before turning posteriorly to exit the
skull through the stylomastoid foramen
• It gives of the posterior auricular nerve (skin behind ear) and then passes into the deep substance of the
parotid gland where it usually divides into its upper and lower trunks
• Five groups of branches are created which are (from superior to inferior)
o Temporal,
o Zygomatic
o Buccal
o Marginal mandibular
o Cervical
• The facial nerve provides motor innervation for most of the facial muscles so it is important to test these
groups  such tests may include:
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o Getting the patient to close their eyes tight  
o Raise their eyebrows  
o Whistle/pout out their lips  
o Clench their teeth  
Be able to describe the course and function of the facial nerve

▪ Function
o Motor to the muscles of facial expression
o To convey taste fibres from the tongue
o To convey taste from the palate
o To convey cutaneous sensation from a small area of the external auditory meatus mediated in fibres
carried by way of the vagus  these fibres are carried in a separate trunk (nervus intermedius) in the
subarachnoid space and run with the CN VIII
▪ Important Branches
o Greater petrosal nerve
▪ Arises from geniculate ganglion
▪ Conveys taste fibres from palate
▪ Conveys preganglionic parasympathetic fibres to lacrimal gland
o Branch from ganglion
▪ which joins lesser petrosal nerve and auriculotemporal nerve
▪ conveys secretomotor fibres to parotid gland
o Branch to Stapedius muscle
▪ motor part of Stapedius reflex
▪ restricts excessive movement of the stapes due to loud noise
o Chorda tympani
▪ conveys taste fibres from the tongue (via the lingual nerve)
▪ Twigs joining the vagus and glossopharyngeal nerve
o Post-auricular nerve
▪ Motor to muscles of ear and occipital belly of occipitofrontalis
o Main trunk supplying muscles of facial expression
▪ Temporal  raises eyebrows
▪ Zygomatic  closes eyes
▪ Buccal  puffs out cheeks
▪ Marginal mandibular  bears teeth
▪ Cervical  neck drawing in
o Cutaneous branches
▪ Distributed with the auricular branch of the vagus
▪ Supplies both sides of pinna
▪ Part of external auditory meatus and tympanic membrane
▪ These fibres are carried in a separate trunk (nervus intermedius) in the subarachnoid space
and run with the VIIIth nerve
▪ Mechanism whereby pharyngeal pathology may be associated with otalgia e.g. tonsillitis and
tumours.
▪ In addition palatal vesicles may be present with Herpes zoster of the ear canal (Herpes oticus)
Understand the symptoms and signs of Bells Palsy

• Bell’s palsy is idiopathic lower motor palsy of VII Nerve  diagnosis of exclusion  viral infections that involve
CN VII are possibly one of the most common (80%) causes of facial weakness
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• It presents with a facial palsy  usually of sudden onset  is often preceded by an upper respiratory tract
infection  increased pressure on the nerve due to swelling in its tight bony canal is thought to be the cause
of the dysfunction  affects 2 in 10,000
• Tavener's criteria is used for diagnosis of Bell’s palsy
o acute onset
o hemi-facial
o no CNS pathology
o no ear pathology
• If the patient presents within the first 48hrs  treatment with high-dose oral steroids should be considered
• The majority of cases resolve completely  but some patients are left with a residual facial weakness
• Poorer prognosis associated with
o increasing age
o associated pain
o complete palsy
o increased latency to onset of recovery
Understand the symptoms and signs of facial paralysis due to parotid disease
• Cancers and disease of the parotid are uncommon  the most common tumours are usually benign
pleomorphic adenomas  other more concerning tumours such as squamous cell carcinomas and
adenocarcinomas may also occur
• Since the facial nerve enters the parotid as one fibre, and splits into five branches within  there are many
places where the nerve may be affected
• A large tumour or mass may compress on the entire nerve and cause a complete LMN facial palsy of that side
 however, smaller masses may only cause paralysis of certain muscle groups depending on which branches
are taken out
• Similar problems may occur if the nerve, or its branches, are damaged during treatment or surgical removal
• Weakness may also occur firstly and progress to a complete palsy
Understand the symptoms and signs of skull base pathology

• General signs
o Battle's sign  bruising of the mastoid process of the temporal bone.
o Raccoon eyes  bruising around the eyes  i.e. "black eyes"
o Cerebrospinal fluid rhinorrhoea
o Cranial nerve palsy
o Bleeding (sometimes profuse) from the nose and ears
o Hemotympanum
o Conductive or perceptive deafness, nystagmus, vomitus
o In 1-10% of patients, optic nerve entrapment occurs  the optic nerve is compressed by the broken
skull bones, causing irregularities in vision
o Serious cases usually result in death
• Skull base pathology can affect the facial nerve around the cerebellopontine angle (CPA)  cause a complete
LMN facial palsy  CN IX, X, XI and XII may be affected
• Depending on the pathology this also has the potential to affect the taste fibres to the anterior 2/3 of the
tongue, and the posterior auricular nerve
• The 8th nerve (vestibulocochlear) also emerges at the CPA  hence may be associated unilateral hearing loss
and tinnitus
• Transverse skull fractures (10-20% of fractures) have the potential to affect the facial nerve as well as hearing
 so may present in a similar way
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• A fracture of the petrous temporal bone of the skull base often passes through the middle ear producing a
conductive loss and a haemotympanum  the drum appears purple in colour and occasionally the external
auditory canal is stenosed due to a fracture of the tympanic ring
• CSF leakage is usually short-lived in a longditudinal fracture 80%  i.e. fracture along the long axis of the
petrous temporal bone  and damage to the facial nerve is rare  antibiotic cover is indicated
• Transverse fractures 20%  i.e. perpendicular to the long axis of the petrous temporal bone  result from
frontal or occipital blows  they are more troublesome as they often pass through the labyrinth or internal
auditory meatus producing a sensorineural hearing loss, vestibular damage with vertigo and facial nerve palsy
• Partial or delayed facial nerve palsies are likely to recover spontaneously while complete immediate palsies
may require surgical decompression when the patient is fit for surgery
• Nystagmus can be demonstrated and the Weber’s tuning fork test is heard in the better hearing ear if there is
cochlear damage  the otological symptoms are often overlooked initially because of other more life-
threatening or deforming injuries or reduced level of consciousness
• An urgent CT scan is required to define the site of injury.
• A palsy which develops after the initial injury is more common  due to oedema and bruising around the
nerve  this can be managed with high dose systemic steroids
• Another complication is a CSF leak that may present as rhinorrhoea  as the fluid drains down the eustachian
tube
• While damage to the vestibular system causes marked vertigo, this settles as the brainstem accommodates to
the sensory information from the contralateral side  in the elderly this process takes longer and patients
can remain unsteady for weeks
• Less severe head trauma can result in 'labyrinthine concussion'  which can produce a spectrum of
symptoms including tinnitus, vertigo, permanent hearing loss and benign positional paroxysmal vertigo  the
latter typically causes a sensation of rotation induced by placing the affected ear down and there is usually no
hearing loss  the majority of cases are said to resolve within two years but about a quarter of patients have
more persistent trouble
Understand the management of facial nerve paralysis

• Any process that disrupts the nerve fibres of the facial nerve will lead to a partial or total weakness of the
facial muscles  this is usually immediately apparent and leads to the patient rapidly seeking medical help
because of the obvious cosmetic deformity
• It is important to differentiate between an upper motor neuron (UMN) and lower motor neuron (LMN) palsy
 an UMN palsy is caused by damage to the nerve fibres above the level of the facial nucleus, i.e. the motor
cortex or pons  this is distinguished from an LMN palsy by the sparing of movement in the forehead
muscles, which receive innervation from the contralateral motor cortex as well  an LMN palsy causes total
facial weakness
• A thorough ENT, neck and neurological examination is mandatory for any patient presenting with a facial palsy
• Paralysis of the facial nerve can also be due to an UMN lesion in the motor cortex or pons  this will result in
contralateral facial weakness with sparing of the muscles of the forehead  such pathologies include vascular
(TIA), iatrogenic, tumour or neurological
• Other pathologies include (LMN):
o Ramsay Hunt syndrome which is a herpes zoster infection  this causes facial palsy and pain with the
appearance of vesicles on the ear drum, canal and pinna  vertigo and deafness may occur here and
acyclovir treatment is needed  this facial weakness is usually severe and often does not recover
o Middle ear damage as the facial nerve runs across the medial surface and can be compromised during
surgery, trauma or infection
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• Treatment  this is always of the underlying cause of the paralysis  the actually paralysis also needed
managing  if it is complete then the conjunctiva may be permanently exposed and ulcerate leading to
blindness  hence artificial tear eye drops are needed along with potential surgery  there are also several
operations to sling the joints in patients with a limited degree of movement
• Most importantly, with anyone presenting with facial paralysis, a full otoneurological examination is required
without delay
SPECIFIC HISTORY
• Upper or lower motor neurone lesion
o LMN  forehead (eyebrow raise) also affected
o UMN  lower face involved with preservation of bilateral eyebrow raise  forehead muscles receive
innervations from both motor cortices
• Onset  congenital, rapid or slowly progressive
• Severity  complete or incomplete
• Symptoms related to VII palsy  eye closure, drooling, hyperacusis
• Otological symptoms?  deafness, otorrohea, otalgia, vertigo, tinnitus
• Other neurological symptoms?  CVA, multiple sclerosis, Guillain-Barré etc
• Parotid disease?  masses, pain
• Systemic illnesses?  symptoms of infection, sarcoid
• Head, facial trauma?  #skull base, stab injuries
EXAMINATION
• VII Nerve  the main facial movements to test for are  facial nerve function can be graded using the
House-Brackman scale
o Raising the eyebrow
o Closure of the eye
o Smile
• CNS  Vth VIIIth and lower cranial nerves, cerebellar function
• Ear  signs of infection or tumour
• Parotid  if mass present  malignant until proven otherwise
• Oral cavity  ook in the mouth for vesicles, palatal weakness, oropharynx  displaced tonsil
• NB  a deep lobe of parotid tumour can present as an oropharyngeal mass displacing the tonsil medially  it
is not associated with other signs of infection distinguishing it from a peritonsillar abscess
HOUSE BRACKMANN SCALE (GRADING SCALE OF SEVERITY OF VII PALSY)

• I Normal
• II Slight weakness noticeable only on close inspection
• III Obvious weakness but not disfiguring
• IV Severe reduction in movement - incomplete eye closure
• V Asymmetry at rest  motion barely perceptible
• VI Asymmetry at rest  no facial movement
INVESTIGATIONS
• Pure tone audiogram
• Stapedial reflexes
• Electroneuronography  guide to progress and prognosis
• MRI/ CT in selected cases
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CONDITIONS TO EXCLUDE
• IN CHILDREN:-
o Congenital
▪ Moebius Syndrome (bilat VI, bilat VII with uni or bilat XII N palsies)
▪ Hemifacial microsomia (unilat VII with microtia, hemifacial hypoplasia)
o Acquired
▪ Forceps delivery
▪ Chicken pox (Herpes zoster)
▪ Acute OM
• IN ADULTS (and children):-
o Peripheral
▪ Trauma
• In early life the facial nerve is more superficial and more prone to injury eg forceps
delivery
• Any penetrating injury may sever the nerve. A repair can be performed to attempt to
recover some function
▪ Iatrogenic
• damage from parotid surgery
• damage from submandibular gland surgery (to the marginal mandibular nerve)
▪ Tumours
• Malignant parotid tumours including lymphoma
▪ Inflammatory conditions of the parotid
• e.g. sarcoidosis
o Middle Ear
▪ Iatrogenic
• mastoid surgery of any kind.
• All patients undergoing ear surgery must be warned of the risk to the nerve!
▪ Infection
• Discharging ear and a facial palsy is a medical emergency
• A cholesteatoma must be excluded. Treatment includes antibiotics and a surgical
exploration of the mastoid to remove the cholesteatoma
• Acute otitis media. Treatment includes antibiotics and often a myringotomy incision
in the eardrum to drain pus
• Mastoiditis
• Herpes zoster
▪ Tumours
• Squamous cell, rhabdomyosarcoma (children)
• Glomus jugulare or glomud tympanicum
o Petrous temporal bone
▪ Trauma
• Transverse fractures of the skull (see Other ENT emergencies chapter)
▪ Tumour
• Squamous cell, metastases
• Petrous apex cysts/cholesteatoma
o Intracranial
▪ Tumour
• Acoustic neuromas
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• Facial nerve neuromas
• Meningioma
• Carcinomatous meningitis
▪ Iatrogenic
• Skull base surgery
▪ Vascular
• Stroke
▪ Neurological
• e.g. multiple sclerosis
RAMSAY-HUNT SYNDROME
• Facial palsy caused by Herpes Zoster Virus
• Clinical features:
o Facial palsy (often severe and irreversible)
o Facial pain
o Vesicles ear canal, pinna (and soft palate)
o +/- sensorineural deafness
o +/- vertigo
• Treatment
o Eye care  with reduced eye closure, particularly in complete palsies, the eye is more prone to drying
and corneal abrasions which can result in blindness  artificial tears such as hypromellose drops and
Lacrilube ointment can be prescribed and an eye patch used at night  an ophthalmology opinion
may be useful and sometimes a temporary lateral tarsorrhaphy (lateral eyelid sutures) or gold weight
in the eye are used to help eye closure
o In Bell’s palsy and Ramsay Hunt Syndrome oral steroids are usually given if there are no
contraindications (typical does in an adult – 80mg daily, reduced gradually to 0 over 2 weeks)  as
well as acyclovir (if started within the first few days of the onset) if the facial weakness is severe  if
permanent weakness facial symmetry can be restored using facial slings -> this involves using strips of
fascia lata from the thigh to suspend the corner of the mouth from the zygomatic arch
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RHINOLOGY
Demonstrate knowledge of nasal anatomy

• The nose can be divided into several sections to make up this individual unit  these include
o External nose
o Nasal vestibule and valve
o Septum
o Lateral nasal walls
o Nasopharynx  or post nasal space – PNS)
• The nose not only serves to help with respiration  but also acts to warm and humidify the air we breathe
• Stiff hairs on the vestibule help block large particles enter the nose  whilst smaller particles are degraded by
enzymatic destruction by the epithelium
• It is also important to recognise that olfaction gives 85% of what we call taste so someone reporting a poor
sense of taste may actually have a poor sense of smell
THE EXTERNAL NOSE

• The upper third is made of bone attached to the frontal bone  the lower two thirds are cartilaginous
• The cartilage is then divided into the upper and lower lateral cartilages as well as the alar cartilage that sits
behind the lower
• This skeleton is covered in skin which is thin at the nasal bridge and thicker over the tip
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VESTIBULE AND VALVE

• The vestibule is basically the nasal entrance  it is enclosed by the alar cartilages
• The skin bears stiff hairs called vibrissae  the mucous membrane lies just behind these
• BCC’s, SCC’s and benign papillomas can be found in the vestibule
• The middle bit of skin connecting the lip to the nasal tip is called the columella
• The narrowest part of the nasal cavity is the nasal valve which is at the upper border of the alar cartilage
NASAL SEPTUM
• This is the midline division between each nasal cavity and is made of thin, flat bony sheets posteriorly
(ethmoid and vomer bones) and cartilage anteriorly  the maxilla makes up the majority of the floor of the
nasal cavities
• The covering of the cartilage is mucoperichondrium and the covering of the bone is mucoperiostium
• The septum has a particularly good blood supply  particularly anteriorly where four arteries anastomoses
(Little’s area)  this is the most common site for nose bleeds
LATERAL NASAL WALL

• On the lateral walls are cigar-shaped ridges or swellings called the superior, middle and inferior turbinates 
aach is made of a bone covered in vascular mucoperiostium
• The space under each of these is called a meatus (inferior meatus below the inferior turbinate etc)
• The nasolacrimal duct and sinuses drain into these spaces  hence the middle meatus is clinically most
important
• The inferior turbinate can swell under autonomic control  blocking off each nostril (to some degree) for
around 4 hours each to help prevent drying and allow regeneration
NASOPHARYNX OR POST NASAL SPACE (PNS)

• The nasal cavities end as two oval spaces called the choanae  rarely a congenital abnormality called choanal
atresia can occur which is where a thin membrane blocks these two choanae  as children are born obligate
nasal breathes then death will quickly follow if an oral airway is not given
• The eustachian tube enters the PNS on each side  so a tumour or infected enlarged adenoids can cause ear
problems  in fact this can be the sole presenting feature of a nasopharynx carcinoma
• The dividing line between the nasopharynx and oropharynx is the soft palate
Be able to differentiate between infective, allergic and non-allergic rhinosinusitis

• Rhinosinusitis is an inflammatory process involving the mucosa of the nose and sinuses  it is replacing the
term sinusitis because inflammation of the mucosa is rarely confined to the sinuses and frequently there is
inflammation of the whole upper respiratory tract
• Rhinosinusitis can be classified into acute (symptoms for < 4 weeks), sub acute (4-12 weeks) and chronic (>12
weeks)  it can be further subdivided into
o Infective
o Allergic
o Non-allergic
o Occupation
o Hormonal  eg. pregnancy
ACUTE RHINOSINUSITIS
• Acute inflammation of one, some or all of the sinuses may occur  the maxillary sinus is the most commonly
affected, followed by the ethmoid, frontal and sphenoid sinuses
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• The majority of cases follow a viral upper respiratory tract infection (URTI)  which involves all of the
respiratory epithelium including the paranasal sinuses  such infections cause hyperaemia and oedema of
the mucosa, which can block sinus drainage
• Stasis of secretions predisposes to secondary bacterial infection  it is estimated that up to 2% of viral URTIs
are complicated by a bacterial rhinosinusitis  the most common causal organisms are Streptococcus
pneumoniae and Haemophilus influenzae
• Acute rhinosinusitis (ARS) is usually readily diagnosed clinically  it commonly follows an acute viral URTI,
with a severe, unilateral pain over the infected sinus, malaise, and pyrexia
• Other symptoms include
o Nasal obstruction
o Mucopurulent rhinorrhoea
o Poor smell
o NB  acute facial pain without nasal symptoms is highly unlikely to be due to ARS
• Sinus involvement
o Maxillary sinus  pain developing in the cheek or upper teeth  it tends to be unilateral
o Frontal sinus  produces pain above the eye and tenderness of the supraorbital margin
o Sphenoid sinus  may produce retro-orbital pain or pain at the vertex of the head  but pain can be
referred to the temporal region or to the whole head
o Dental origin  tenderness on percussion of the upper first or second molar
• Anterior rhinoscopy using an auriscope (ask the patient to mouthbreathe to stop the lens from misting up)
may show inflamed or oedematous nasal mucosa and mucopurulent secretions in the nasal cavity  throat
examination may reveal mucopurulent secretions in the posterior oropharynx
• Investigations are rarely necessary in uncomplicated cases  there is no clear evidence that the culturing of
purulent secretions contributes to the management of acute rhinosinusitis  plain sinus x-rays often show
sinus opacification or a fluid level in the sinus but are rarely necessary
• Patients can try simple analgesics, steam inhalations, and a decongestant  the decongestant may reduce
nasal oedema and improve the natural drainage of the sinuses  it can be given topically (xylometazoline
spray), but not for more than 5 days in order to avoid rhinitis medicamentosa
• Patients often expect to be prescribed an antibiotic  but there is only a 3% difference in the cure rate even
after just one week, in patients with ARS whether they use antibiotics or not  clinicians must weigh the
benefits of antibiotic treatment against the potential for adverse effects and antibiotic resistance  in severe
cases, or where symptoms are persisting or progressing, antibiotics are recommended
• In acute maxillary sinusitis there is limited evidence  but this supports the use of Penicillin or Amoxicillin for
7 to 14 days  of there is no improvement after 3 to 5 days or in areas where penicillin resistance is high,
alternatives such as amoxycillin-clavulanate, cefuroxime, or doxycycline may be considered
• ARS usually responds to medical treatment  however, if there is progressive pain the sinuses may need
draining with either a maxillary sinus washout or trephining of the frontal sinus and an urgent referral to an
ENT surgeon is needed
• Symptoms and signs of potential complications requiring immediate referral include
o Periorbital cellulitis
o Severe headaches
o Focal neurological
o Signs and symptoms of meningitis
INFECTIVE RHINOSINUSITIS
• Infective rhinosinusitis is the most common cause of acute rhinosinusitis, so has been covered above
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• Occasionally secondary effects of colds can persist after the infection has past, such as a middle ear infection
or long running sinusitis. Other specific infections include syphilis, TB, and scleroma.
• It can be acute (systemic upset, pyrexia, rhinorrhoea with pus etc) or chronic (otherwise well, postnasal drip,
muzzy head and poor concentration)  presents with
o Facial pain
o Headache
o Nasal obstruction
o Anosmia/cachosmia
o Halitosis
• Patients with an allergic rhinitis have nasal obstruction and may have hyposmia, nasal irritation, and sneezing
 they often have a slightly yellow nasal mucus due to staining with eosinophils but this is not indicative of
active infection
• On examination they classically have pale and swollen turbinates though the mucosa can be red
ALLERGIC RHINOSINUSITIS
• Allergic rhinitis is the second most common type after infective rhinitis  the nasal lining becomes sensitised
to particular tiny particles known as allergens  these allergens cause a hypersensitivity reaction which is IgE
mediated and leads to mast cell degranulation and release of histamine
• Nasal effects include
o Vascular congestion
o Oedema
o Rhinorrhoea
o Irritation
• Some patients are allergic to allergens which are only present for a particular season (seasonal)  whilst
others are affected all year around (perennial)
• Examination of the nose in patients affected will show a damp, pale nasal lining with swollen oedematous
turbinates  in long-standing allergy these turbinates become hypertrophied and permanently enlarged and
lose much of the erectile ability
• Management include avoidance of allergens, drug therapy and occasionally turbinate surgery
• The main drugs used should include
o Steroid preparations  as topical sprays or drops (long term)
o Antihistamines  either orally or topically
o Sodium cromoglycate nasal spray  which helps stabilised mast cells for 4-6 hours and is used
topically
NON-ALLERGIC RHINOSINUSITIS
• Non-allergic rhinitis is unspecific but includes
o Vasomotor rhinitis
o Rhinitis medicamentosa
o Atrophic rhinitis
• Patients with an idiopathic rhinitis (non-infective, non-allergic) complain of nasal obstruction and clear
rhinorrhoea or post-nasal discharge  but itching and sneezing are less common than in allergic rhinitis
• CRS, allergic rhinitis and idiopathic rhinitis can occur concurrently
• Vasomotor rhinitis is where patients fail to test positive for any allergens and is a diagnosis of exclusion 
treatment is much the same as with allergic rhinitis
• Rhinitis medicamentosa is where there is an acquired sensitivity of the nasal lining in response to the
prolonged use of topical nasal decongestant substances  the problem is that as the decongestant wears off
there is a rebound vasodilation so further decongestant is taken  this causes a cycle and leads to turbinate
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hypertrophy with chronic unresponsive nasal obstruction  treatment involves the cessation of the
decongestant with instigation of topical nasal steroid, and possible turbinate surgery
• Atrophic rhinitis is less common now and is more often seen in developing countries  it is associated with
abnormal patency of the nostril, usually as a result of surgery, and a loss of ciliated epithelium  thickened
secretions form which then dry and leads to a large crust with an unpleasant odour  bleeding is frequent
and a nasal toilet is required regularly to clear debris  steam inhalation as well as glycerine should be used
to soften the crusts  the most effective treatment is to surgically close off the affected nostril but this is
poorly tolerated by patients  with the cessation of airflow the normal nasal lining returns but this is lost
when the airways is reopened
• Rhinitis can also occur in pregnancy, with sexual arousal, in hot conditions and with old age
CHRONIC RHINOSINUSITIS
• Chronic rhinosinusitis is a multifactorial disease  factors contributing can be
o Bacterial infection
o Allergy
o Mucociliary impairment
o Swelling of the mucosa for other reasons
o NB - anatomical variations appear to play a minimal role
• It has a significant impact on quality of life even when compared with chronically debilitating diseases such as
diabetes and congestive heart failure  the disease causes significant physical symptoms, as well as
substantial functional and emotional impairment
• Chronic inflammation of the sinuses may follow an episode of acute rhinosinusitis or have a more insidious
onset
• The condition is over diagnosed as facial pain and is often incorrectly thought to be sinogenic  the sinuses
can only be examined using a nasendoscope, and sinus x-rays are not specific
• The incidence of chronic infective rhinosinusitis in the U.K. has decreased because of the improvements in the
general health of the population, diet, hygiene and the introduction of antibiotics  however the incidence of
chronic non-infective rhinosinusitis due to eosinophilic inflammation has increased
• CRS can be debilitating for patients and has been shown to significantly impair quality of life but this can be
rectified with treatment  the disease imposes a major economic cost on society in terms of direct cost as
well as decreased productivity
• The microbial pathogens present in chronic infective rhinosinusitis are significantly different to those in ARS.
o Staphylococcus aureus
o Coagulase-negative staphylococcus
o Aanaerobic and gram-negative bacteria predominate
• In the majority of patients with CRS frank purulent infection cannot be found although mucosal hyper-
reactivity to staphylococcal superantigens has been proposed as the cause in the subgroup who develop nasal
polyps  many patients have hypertrophic mucosa with tenacious secretions and at histology the lining is
replete with eosinophils yet there is no evidence of allergy as we understand it (Type I IgE mediated
hypersensitivity)
• Very occasionally, sinusitis can be secondary to dental disease and the organisms are anaerobic producing a
foul smelling discharge
• Patients with chronic rhinosinusitis have nasal obstruction and commonly a discoloured discharge (nasal or
post-nasal) for longer than 12 weeks  they may also experience a smell disturbance (anosmia or cacosmia =
unpleasant smell) or intermittent frontal pain
• Patients should have a history of purulent secretions around the clock  some discoloured nasal or post-
nasal discharge in the mornings can occur with snorers whose clear nasal secretions (we all produce about
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half a cup a day) collect in the nasopharynx and become discoloured with the commensals that collect there
 this is common and not indicative of a CRS
• The diagnosis of CRS is largely based on the history  but physical signs such as mucosal swelling,
inflammation and discharge are needed to make the diagnosis
• Anterior rhinoscopy using an auriscope can be performed  but viewing the middle meatus is difficult
• Nasendoscopy achieves much better visualization  but is not readily available in general practice
• Signs such as inflammation, mucopus, or the presence of nasal polyps help confirm the diagnosis
• Inferior turbinates are often mistaken as a nasal polyp  but are red and sensitive rather than the pale,
pendulous, opalescent painless swellings characteristic of a polyp
• Patients can also be asked to blow their nose to look for evidence of mucopurulent secretions in their tissue
• The principle aims of treatment are to ventilate the sinuses and restore mucociliary clearance  if a diagnosis
of CRS is made, a trial of medical therapy should be tried  it is unusual for patients’ symptoms not to
respond to medical treatment
o A course of broad-spectrum oral antibiotics  such as co-amoxiclav, clindamycin or a combination of
metronidazole and a penicillin is given for at least 3 weeks
o Topical nasal steroids  such as betamethasone drops (2 drops, left+right tds) should be given for 2
months followed by a steroid nasal spray
o Nasal douching
• Other co-existing pathologies such as allergic rhinitis or nasal polyps should be treated accordingly  e.g.
allergen avoidance, antihistamines, and oral steroids  topical steroid therapy can be continued beyond
eight weeks if there is an improvement.
• If there is no improvement after eight weeks medical therapy, referral to ENT should to made  where the
patient will undergo nasendoscopy to confirm the diagnosis
• In persistent cases that have not responded to maximum medical treatment  a CT scan of the paranasal
sinuses with a view to surgery may be considered
• In Functional Endoscopic Sinus Surgery (FESS)  the natural drainage pathways of the sinuses are cleared, to
allow adequate drainage and resolution of the CRS
• Chronic infective rhinosinusitis tends to be over diagnosed  many patients do not have an active infection
but have developed a persistent allergic rhinitis due to perennial allergens
• Other common causes of CRS are patients with mucosal hypertrophy or polyps associated with late onset
asthma  who often have hyposmia and yellow stained secretions due to eosinophils
• Chronic infection is associated with green secretions throughout the day along with nasal obstruction and this
usually responds to the correct anti-bacterial treatment
• Patients with facial pain or pressure without any nasal symptoms rarely have CRS  their pain is usually
neurological in origin  the commonest cause of facial pain is midfacial segment pain, a symmetrical
sensation of pressure, sometimes described as ‘blockage’ but without any airway impairment that affects the
face and/or forehead  it is like tension type headache except that it affects the midface  it responds to
low dose amitriptyline, taking 6 weeks to work and needs 6 months of treatment
Be able to recognise the complications of rhinosinusitis

• Complications of acute sinusitis include
o Chronic sinusitis
o Facial cellulitis
o Peri-orbital cellulitis
o Mucocoele formation
o Osteomyelitis
o Meningitis
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o Brain abscess
CHRONIC SINUISITIS
• Frontal sinusitis is important to recognise as it can be life and sight threatening
• It presents with tenderness over the forehead  especially on percussion and can give a severe frontal
headache  becoming worse on bending
• The infection can easily spread to the orbits and cause blindness without warning
• Another danger is the spread to the cranial cavity with the formation of an extradural or intracranial abscess
 these patients should be treated aggressively with broad spectrum antibiotics and decongestants 
surgical intervention, with drainage, may be necessary if there are complications or a slow recovery.
• Brain abscesses secondary to frontal sinusitis occur most commonly in the frontal lobe  may cause subtle
changes in personality, headaches a grand mal convulsion or may be found incidentally on a CT scan 
treatment requires neurosurgical drainage or aspiration
• Extradural abscess secondary to frontal sinusitis may be found on CT scan and is usually due to a dehiscence
of the posterior wall of the frontal sinus  are usually drained into the frontal sinus and hence externally
• Subdural abscess secondary to frontal sinusitis are difficult to diagnose in early stages  patients have
general malaise, headache and some neck stiffness and signs of raised intracranial pressure  the diagnosis is
generally made on the examination and CT scan  the prognosis of this rare complication is poor
FACIAL CELLULITIS
• Facial cellulitis may be an extension of
o Orbital cellulitis
o Frontal sinusitis  or where the pus spreads into the soft tissues of the forehead ‘Pott’s puffy
tumour’
o maxillary sinusitis or osteomyelitis
• It is treated with high dose antibiotics and sinus drainage as necessary
PERIORBITAL CELLULITIS
• Periorbital cellulitis may be the presenting feature of an ethmoidal sinus infection  as the infection almost
always spreads from the ethmoid sinus via the thin plate of bone (lamina papyracea)
• These patients should be managed by ENT and not ophthalmologists
• This is the most common complication and spread may be direct or blood-borne
• Treatment is high dose antibiotics and observation  this is sight threatening due to pressure on the optic
nerve.
MUCOCOELES
• Mucocoeles are a late complication of acute sinusitis  they are a collection of sterile mucous occupying an
obstructed sinus (usually frontal or ethmoid)
• Over years the sinus expands due to mucous that is trapped under pressure within it  this is usually
asymptomatic unless infection occurs or the patient complains of facial swelling
• Treatment is by surgical drainage.
INTRACRANIAL COMPLICATIONS
• Intracranial complications can occur by direct spread, by venous thrombophlebitis or along the perineural
tissue of the olfactory nerve  meningitis is the most common complication
• Others include
o Cavernous sinus thrombosis  decreased venous return from the eye causes the orbit to swell and
symptoms include fever, rigors, severe headache and reduced consciousness  signs include 3rd, 4th
and 6th nerve palsies  treatment is with high dose antibiotics
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o Brain abscess  occurs most commonly in the frontal lobe and can cause headaches, convulsions and
changes in personality  reatment is neurological drainage or aspiration
o Extradural abscess  secondary to frontal sinusitis and are usually drained into the frontal sinus
o Subdural abscess  again secondary to frontal sinusitis and is difficult to diagnose  early symptoms
include general malaise, headache and some neck stiffness and signs of raised ICP  the prognosis is
poor.
Understand the medical and surgical treatments for rhinosinusisits and structural nasal defects
RHINOSINUSITIS
• Acute rhinosinusitis  simple analgesia, nasal decongestants (max of 5 days) and steam inhalation 
antibiotics are rarely needed but patients may expect them  if there are signs of complication or no
improvement then surgical drainage of the sinus may be indicated
• Chronic rhinosinusitis  principles are to ventilate the sinuses and restore mucociliary clearance  a broad
course of antibiotics is given for 3 weeks and topical nasal steroid drops for 2 months followed by a nasal
steroid spray  any allergic element should also be treated as usual  surgery can help those who do not
improve with this treatment and involves opening the sinuses to encourage drainage
NASAL DOUCHING
• Mix ½ teaspoon of salt, ½ teaspoon of sugar and ½ teaspoon of bicarbonate of soda in 2 pints of boiled water
 which has been left to cool
• Place some of the mixture into a saucer, or draw some mixture up with a syringe
• Block off one nostril with one finger and then sniff or squeeze up the solution into the other nostril  letting
it run out afterwards
• Topical sprays and drops should be taken after douching
PERFORATED NASAL SEPTUM

• Commonly caused by trauma (septal haematoma) or complication of septoplasty  may be as sign Wegner’s
granulomatosis
o Whistling
o Crusting
o Bleeding
• Management is douching and Vaseline as first line and sufficient for most  septal button insertion may help
some, but can cause more crusting  surgery only suitable for small perforations
DEVIATED NASAL SEPTUM

• This may be the result of trauma at birth or later in life  it can lead to nasal obstruction of airflow in a
particular nostril
• The treatment is surgery to straighten the septm  this is done by either removing the deviated
cartilage/bone or by mobilising and repositioning the deviated cartilaginous septum (septoplasty)
• It is important not to excise the anterior or dorsal septum  since this provides support for the nose and ugly
cosmetic deformities may occur
EXTERNAL NASAL SKELETON

• Trauma to the external nose is common  a fractured nose is a common reason for referral to ENT
• It is important to take a holistic approach  consider if the patient is suffering for cervical spine injury, any
head injuries and/or any other facial injury or fracture
• Important symptoms
o Epistaxis
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o CSF leakage  basal skull fracture
o Obstruction
o Septal haematoma
• It should also be considered if any legal action may occur  in which case an X-ray may be relevant
• Acute management  may need epistaxis intervention or treatment of a septal haematoma
• Septal haematoma  a possible complication of a broken nose  it is a bilateral fluctuant swelling of septum
 needs to be distinguished from septal deviation which is unilateral and hard  requires drainage under GA
and antibiotic cover
• 5-7 days post-injury will need to be seen in clinic  allows soft tissue swelling to settle, so the bony nose can
be assessed  manipulation of bony deformity can then be done under local anaesthetic
Demonstrate knowledge of treatment of epistaxis
• There may be many causes for epistaxis including

o Spontaneous
o Trauma/foreign body
o UTRIs
o Clotting disorders or HHT
o Drugs  anti-coagulants and NSAIDs
• Initial first aid should include getting the patient to sit forward and pinch the fleshy part of the nose (not the
bridge) for 10 minutes  the patient should avoid swallowing the blood and an ice pack on the nasal bridge
may be helpful
• Resuscitation may be needed in severe epistaxis  such as assessing blood loss, pulse, BP, getting IV access,
setting up an infusion, FBC, coagulation and group and save
• Further management includes examining the nose and looking for a point of bleeding  if visible then spray
the area with 5% lidocaine or another topical local anaesthetic and attempt nasal cautery  if severe then
the nose may need packing
• Advice on discharge
o No heavy lifting or bending
o No hot showers or drinks
o No picking
o Gentle nose blowing
o Vaseline
o Vestibulitis  common S.aureus infection of vestibule  treated with mupirocin ointment or
Naseptin cream
BLOOD SUPPLY
• Blood supply comes from the carotid artery  the main branch is the external carotid artery  from this the
maxillary branch supplies the septum and palate
• The internal carotid artery also gives off the ophthalmic artery  anterior & posterior ethmoid  this
supplies the ethmoid and part of the septum
• This means there is a collateral supply to the nose  called Little’s area or ‘Klesselbach plexus’
CAUTERISATION
• Apply cotton buns soaked in 1:200,000 adrenaline or 5% lidocaine solution to the area  apply pressure for
at least 2 minutes
• Take a silver nitrate cautery stick which should be applied for 1-2 seconds at a time  provides AgOH and
nitric acid
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• Start a few mm away from the bleeding point and work in a circle to cauterise the feeder vessels before
attempting to cauterise the main point  if unsuccessful then reapply pressure and pack the nose
• Never cauterise heavily active bleeding vessels  can cause chemical burns to other parts of the face or
throat
NASAL PACKING
• When cautery cannot be done (i.e. a posterior bleed) then the nose needs to be packed  the idea is to put
pressure on the blood vessels to prevent active haemorrhage and allow thrombotic mechanisms to act
• These packs are usually left in for 24-48 hours and are secured anteriorly to prevent them prolapsing
backwards into the airway
• Most doctors will give prophylactic antibiotics whilst the packing is in place
• The packing can be uncomfortable so the patient may be admitted and lightly sedated  should usually only
be used unilaterally at first  but bilateral may help by applying pressure to the other side
Demonstrate knowledge of treatment of obstructive sleep apnoea and snoring

• Snoring is common and caused by vibration of one or more areas of the upper airway  sleep apnoea is an
increased upper airway resistance resulting in cessation of breathing, sleep disruption and resultant daytime
sleepiness
• Aetiology of snoring and sleep apnoea
o Age  increased chance with older age up to 7th decade  
o Sex  males are 2-5 times more likely to suffer. Oestrogen has been shown to be protective as there
is a rise in women after the menopause but not if on HRT
o Obesity  the most important risk factor with 70% of people with a BMI over 40 suffering. However
neck and hip measurements are better
o Obstructed upper airway  obvious
o Social habits  smoking and alcohol don’t help
o Other risk factors  a family history, sedating drugs, neuromuscular disease, chronic lung disease
OBSTRUCTIVE SLEEP APNOEA

• Obstructive sleep apnoea (OSA) is a particular subtype of sleep apnoea  where there is repeated collapse of
the upper airway  usually associated with desaturation
• Chest movements continue but to no avail and blood oxygen saturations fall  when hypoxia occurs a central
impulse causes a slight lightening of consciousness and an increased respiratory effort to overcome the
obstruction
• Not all people who snore have sleep apnoea  but all people who have sleep apnoea will snore
• Sleep apnoea is broadly defined as 30 or more episodes of cessation of breathing, each lasting at least 10
seconds, occurring over a 7 hour period of sleep
• Symptoms associated with OSAS:
o Excessive daytime sleepiness   o Witnessed apnoea  
o Impaired consciousness   o Restless sleep  
o Snoring   o Irritability/personality change  
o Unrefreshing sleep   o Nocturia  
o Choking episodes during sleep   o Decreased libido
• There are many different ways to assess a patient with OSA  but the main reasons are to assess where the
cause is and what the actual diagnosis is  methods include sleep studies with various monitoring, or invasive
endoscopies with probes to detect vibrations
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• Sleep studies should be conducted in patients with COPD or respiratory problems, people who work as drivers
or with dangerous machinery and patients who are being considered for surgery
• Unlike adults the incidence in children is similar in both sexes and does not increase with age  peak
occurrence is between the age of 2 and 5 when the adenoid and tonsils are largest (almost exclusively the
cause)  children often show signs of failure to thrive rather than obesity and may be over active rather than
sedated
• Over the long term this may lead to pulmonary hypertension and right ventricular strain and finally cor
pulmonale
• Management can be through lifestyle changes, medical intervention and surgery
o Lifestyle changes include losing weight and reducing alcohol consumption as well as any other
sedative taken
o Medically the patient may use drugs that reduce the amount of REM sleep  where these episodes
are more common, or respiratory stimulants to maintain an increased effort
o Continuous positive airway pressure (CPAP) involves wearing a mask that gives a higher end pressure
than normal and this acts as a splint to keep the airway open  this is often poorly tolerated
o The surgical option for children is adenotonsillectomy
o In adults surgery has to be focussed on the area that is actually responsible for the collapse  this
can vary from nasal polyps and a deviated nasal septum to the soft palate or lateral pharyngeal bands
Know the specific questions to ask in a rhinology history and be able to examine the nose
RHINOLOGY HISTORY
• Possible problems
o Epistaxixs
o Allergic rhinitis
o Rhinosinusitis
o Foreign body
o Anosmia
o Noisy breathing
o Malignancy  sinona sal
o Blocked nose
• Nasal symptoms
o Blockage
o Discharge
o Change smell & taste
o Post-nasal drip (PND)
o Facial pain
o Red flags  unilateral, bleeding, numb face, neck lump
• Eye symptoms  important because of sinusitis
o Itching
o Red flags  unilateral, proptosis, double vision, eye displacement
• Respiratory  asthma, aspirin sensitivity
• Past medical history  atopy, autoimmune conditions (SLE, sarcoidosis)
• Drug history  treatment tried, decongestants (only use 5-7 days)
• Social history  smoking, occupation
• Many patients, with facial pain or headaches incorrectly believe they have sinus trouble. This is often
reinforced by the medical profession. However, CRS is usually painless. Key points in the history of sinogenic
pain are: an exacerbation of pain during an URTI, an association with rhinological symptoms, pain that is
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worse when flying and a response to medical treatment.9 Facial pain or pressure on its own without nasal
symptoms or signs is highly unlikely to be due to rhinosinusitis and an alternative diagnosis such as midfacial
segment pain, migraine, cluster headaches and atypical facial pain should be considered. Vascular pain, such
as in cluster headaches, can be associated with autonomic rhinological symptoms such as nasal congestion
and clear rhinorrhoea due to vasodilatation of the lining of the nose, and this can lead to an incorrect
diagnosis. Traditionally, an increase in the severity of pain on bending forward has been considered diagnostic
of sinusitis, but this finding is non-specific and can occur with many other types of facial pain.9
NOSE EXAM
• Inspection
o Look from front on, bottom, back and side  assess aesthetically
o Looking for
▪ Deviation
▪ Asymmetry
▪ Landmarks  diagram
▪ Systemic conditions  Mallar rash, skin cancers
• NB  turbinate is a concha covered in mucosa  on outer side of nose (inferior)  septum is smooth
• Little’s area  vascular area on the inside of the nose  commonly bleeds in epistaxis
• Palpations  bony going into cartilaginous
o Pain
o Fractures
o Lumps
• Air flow
o Screening test  breathe on metal and look for bilateral misting
o Individual nostril  thumb covers nostril and ask to breathe in
• Rhinoscopy  looking for inflammation, polpys , septal perforations or other pathologies
• Others
o Eyes
o Oral cavity and palate
o Respiratory
o Cranial nerves
o Neck examination
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UPPER AIRWAY
Demonstrate knowledge of diagnostic features, causes, signs & symptoms and management upper airway obstruction
• Causes
o Allergic reactions  in which the trachea or throat swell closed  including allergic reactions to
a bee sting, peanuts, antibiotics (such as penicillin), and blood pressure medicines (such as ACE
inhibitors)
o Chemical burns and reactions
o Epiglottitis  infection of the structure separating the trachea from the oesophagus
o Fire or burns from breathing in smoke
o Foreign bodies  such as peanuts and other breathed-in foods, pieces of a balloon, buttons, coins,
and small toys
o Infections of the upper airway area
o Injury to the upper airway area
o Peritonsillar abscess  collection of infected material near the tonsils
o Retropharyngeal abscess  collection of infected material in the back of the airway
o Throat cancer
o Tracheomalacia  weakness of the cartilage that supports the trachea
o Vocal cord problems
• Symptoms of upper airway obstruction
o Noisy breathing
o Increased shortness of breath
o Change in voice  hoarse
o Potentially local pain
o Maybe even dysphagia
• Signs of upper airway obstruction
o Stridor
o Breathlessness
▪ Increased RR
▪ Suprasternal retraction
▪ Use of accessory muscles for inspiration
▪ Restlessness
o Voice change
o Drooling
o Subcutaneous emphysema
• First aid measured should firstly be applied  if in respiratory arrest, then clear mouth and oropharynx of
vomit, dentures or foreign bodies by suction of sweeping the airway with a gloved finger
• If cyanosed and still breathing give heliox (80% helium and 20% oxygen which is easier to breathe)  then
consider which management option is most suited to the situation
• Airway options are
o Adjunct  nasopharyngeal, oral or laryngeal mask
o Intubation
o Cricothyroid puncture
o Tracheostomy under local anaesthetic
• Endotracheal intubation vs tracheostomy  the choice should depend on the nature of the obstruction, the
severity, the expertise available, the equipment available and the anxiety of the patient
• Treatment mostly consists of fixed the upper airway obstruction once the patient has been stabilised and an
airway secured
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Demonstrate knowledge of the diagnostic features and differentiate between stridor and stertor
STERTOR
• Stertor is a low pitched noise produced at the level of the oro/nasopharynx i.e. snoring
• It can manifest as heavy snoring when in a coma or deep sleep and is sometimes due to obstruction of the
upper airways such as enlarged tonsils or choanal stenosis
STRIDOR
• It is defined as noisy breathing which can be on inspiration, expiration or both
• The Inspiratory phase is most likely to be at the laryngeal level  whilst expiratory is the wheeze of asthma in
the bronchi or bronchioles  a mixed type can also occur which involves the trachea or laryngeal and lower
airways
• Stridor is typically high in pitch and is a sign of respiratory obstruction  such as croup, a foreign body,
abscess or allergic reaction
• Stridor can have many different causes, the more common of which are:
o Congenital  laryngomalacia, vocal cord palsy, vocal cord web and subglottic stenosis  
o Acquired  trauma, foreign body, angioedema, Epiglottitis, croup, vocal cord palsy, laryngeal
carcinoma, subglottic stenosis, laryngeal papillomata, large laryngeal polyps/cysts and external
compressed (i.e. a thyroid mass)
• Management consists of taking a basic history and giving first aid as required  the severity of the stridor
should be assessed and the airway should be improved or secured as necessary
• The severity of stridor can be assessed by the patient’s general appearance and the following categories can
be used:
o Only present on exertion  
o Only present on deep inspiration  
o Audible all the time but able to hold a conversation  
o Has to talk in short phases  
o Only able to get odd words out as concentrating on breathing  
o Unable to talk, using accessory muscles  
o Cyanosed  
o Respiratory arrest  
• Finally the underlying causes should be investigated and treated
Be able to describe the indications, management and complications of a tracheostomy

• A tracheostomy is an operation where a small hole is made through the skin over the lower part of the neck
and into the trachea  a breathing tube is then inserted to bypass any obstruction above and allow
ventilation
• However, by doing this, the humidifying and warming function of the nose and upper airway is removed 
these functions can be replaced artificially and are very important
• This tube also bypasses the vocal cords and hence prevents speech  various valves can be fitted to allow
expired air to pass through these
• Indications for a tracheostomy:  
o Obstruction  to bypass an obstruction in the throat or voice  eg. infections, cancers, anaphylaxis,
foreign bodies and OSA
o Oedema  to prevent breathing problems due to tissue swelling after an operation  the air
passage through the larynx is relatively narrow so a small amount of swelling can cause a substantial
obstruction
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o Secretions  to allow easier removal of secretions from the air passages and prevent scarring of the
larynx from long-term artificial respiration  initially patients may be intubated but this means the
patient is unable to cough up mucus and hence this may cause a chest infection  although mucus
can be removed by suction, it is much easier with a tracheostomy and these also protect the delicate
lining of the larynx
o Prevent overspill  to prevent overspill of secretions into the lungs  certain neurological conditions
affect the ability to cough and swallow meaning aspiration is a risk  a cuffed tracheostomy prevents
this
o Laryngectomy  to provide an alternative means of air entry into the lungs after a laryngectomy
(removal of larynx)  this is a special type of tracheostomy where the trachea is cut across and the
lower end is brought into a permanent stoma  the swallowing passage is then recreated
o Ventilation  to reduced airway pressures in someone who requires airway support  it reduces
airway pressures as it allows oxygen to enter the airway lower down in the respiratory tract  used in
patients who are on long term ventilation (eg. ICU)
• There are two main types of tracheostomy
o End tracheostomy  performed as part of a laryngectomy
o Side tracheostomy  the larynx is left in place and an airway is put through the skin over the trachea
• A patient may only need to spend 5-10 day in hospital depending on why the tube was inserted  the inner
tube will need to be changed at 5 days and the patient should be confident on how to look after the tube
whilst at home
• Risks and complications:
o Early  tube displacement, blocked tube from dry secretions, pneumothorax, local infection,
dysphagia and surgical emphysema  
o Late  tracheocutaneous fistula on removing the tube, trachea-oesophageal fistula and tracheal
stenosis
• Outcome  often the tracheostomy can be removed at a later date (depending on the reason for it)  ot is
important to check the patient is able to breathe for themselves normally and the tube is often blocked off for
24-48 hours to check this  later a large occlusive dressing is applied over the hole (it has to be air tight to
heal)
• Element of a tracheostomy tube:
o Cuff  allows seal for ventilation and prevent aspiration
o Fenestration  allows air to pass from lungs up through larynx for speech  
o Reservoir  allows cuff pressure to be estimate  
o Inner tube  can be removed regularly for cleaning  
o Speaking valve  flap valves which open and allow air flow to lungs  on inspiration and close on
expiration, directing air through the larynx for speaking
o Temporary tubes are often plastic but long term tubes are made of an inert silver  
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VOICE DISORDERS
Demonstrate knowledge of the anatomy and function of the larynx

LARYNX
• The main function of the larynx is to act as a sphincter  to protect the lower airways from contamination by
food, liquid and secretions  it also allows for an effective cough and provides the ability to produce speech
• The larynx is essentially a tube made up of a series of cartilage and bone which are held together by
interconnecting membranes, ligaments and muscles  superiorly it connects to the pharynx and inferiorly to
the trachea
• The larynx consists of the
o Cricoid cartilage o Arytenoids cartilages (x2)
o Thyroid cartilage o Cuneiform cartilage (x2)
o Epiglottis o Corniculate cartilate (x2)
• The cricoid cartilage is the most inferior cartilage of the larynx and is signet ring in shape. It provides an
attachment for the arytenoids cartilages and the thyroid cartilage.  
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• The thyroid cartilage is the largest of the laryngeal cartilages  connects with the cricoid cartilage and hyoid
bone  it also provides a site of attachment for the epiglottis and the vocal ligament
• The epiglottis is attached to the posterior aspect of the thyroid cartilage at the angle and projects
posterosuperiorly from its attachment  its main function is to protect the airway when swallowing
• The arytenoids cartilages are pyramidal shaped cartilages and attach to the vocal cords  these are
responsible for adduction and abduction of the ligaments  these also attach the vestibular ligament
superiorly which is the false cord and this attached anteriorly to the thyroid cartilage  there are many
muscles that control these ligaments
• During swallowing the food bolus is propelled backwards by the tongue  from here it enters two channels
called the pyriform fossa  these are groves that run downwards and backwards around the laryngeal inlet
(epiglottis) and lead into the oesophagus  during this process the larynx is drawn upwards and this has the
function of tilting the laryngeal inlet and bringing it closer to the tongue base and epiglottis, which act a bit
like a lid
VOCAL CORDS
• The vocal folds are sometimes called the glottis and lie suspended in the airway by the arytenoids and thyroid
cartilages
• The vocal cords themselves have a complex structure consisting of many layers  which allows the superficial
coverings to be relatively mobile while the body remains stiffer
• The glottis divides the larynx into two
o The supraglottis
o The subglottis
• The supraglottis has sensation supplied by the internal branch of the superior laryngeal nerve  whilst the
external branch carries motor fibres to the cricothyroid muscles  these help adjust the tension of the vocal
cords and is the only laryngeal muscles on the outside of the larynx
• The recurrent laryngeal nerve carries sensation to the subglottis and supplies all other laryngeal muscles 
this is a branch of the vagus nerve and has a relatively long course, especially on the left side  because of
this it is prone to injury in the neck or chest.
• There are several laryngeal muscles and they are all involved with adjustment of the vocal cord position and
tension  the posterior cricoarytenoid muscle is the only muscle to move the cords apart (abduct) and is
hence often described as the most important muscle in the body as without it you can’t get air in
• The glottis acts as a sort of watershed in the larynx  supraglottis drains to nodes in the neck  whilst
subglottis drains into paratracheal nodes  the vocal cords themselves have very limited drainage
Supraglottis (epiglottis to hyoid) Glottis Subglottis

Epiglottis True vocal cords Between the vocal cords and trachea
False cords
Ventricles
Aryepiglottic folds
Arytenoids
Demonstrate knowledge of the diagnostic features and causes of laryngeal malignancy

• The most common malignant tumour of the larynx is a squamous cell carcinoma the most important
aetiological factor is smoking  the greater the number smoked and the longer the time period equate to a
higher risk  heavy alcohol intake can increase this risk even further, as well as a genetic predisposition
• The primary symptom of carcinoma of the vocal cords is hoarseness  so it is important to always consider
laryngeal carcinoma in patients with persistent hoarseness lasting >6 weeks
• Since a small lesion in the larynx will cause symptoms early, and because of this areas poor lymphatic
drainage, the prognosis is good  5 years = 95%
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• Cancers in the supraglottis and subglottis unfortunately do not have such definite and early symptoms  they
may cause irritation in the throat, a cough, referred otalgia or may present with a node in the neck  it is
usually not until late when the airway or voice is compromised
• Other symptoms include difficulty swallowing and cervical lymphadenopathy
• The larynx may present with a raised, thickened, irregular mass with leukoplakia and redness  there will also
be narrowing of the airway and potentially fixation of the vocal cord on visual examination
• The primary options are endoscopic removal, radiotherapy and radical surgical excision (laryngectomy) 
however it must be noted that surgery can have a significant impact on the voice and may result in a
tracheostomy being needed after the laryngectomy
Demonstrate knowledge of the diagnostic features and causes of recurrent laryngeal nerve palsy
• The recurrent laryngeal nerve is a branch of the vagus nerve (CN X)  it has an unusually long course,
especially on its left side  on the left it runs around the arch of the aorta before passing upwards over the
pleura and into the neck  where it runs in a groove between the trachea and oesophagus before finally
entering the larynx  because of this long route it is commonly damaged by disease of, or surgery to, any
structures close to it (lungs, oesophagus, thyroid)
• There is generally a rule of thirds for vocal cord palsy  1/3 idiopathic, 1/3 surgery and 1/3 neoplasia
• Possible causes of recurrent laryngeal nerve palsy
o Surgical trauma (23%)  thyroidectomy
o Malignant disease (22%)
▪ Bronchus
▪ Thyroid
▪ Oesophagus
o Idiopathic (16%)
o Neurological disorders (4%)  brain tumour
o Miscellaneous (35%)  other trauma or CVA
• In more central pathologies phonation is less important than protection of the airway  many of the patients
with extensive brain injury die of pneumonia as a result of aspiration
• Symptoms
o Weak voice o Higher pitched voice
o Tires on prolonged talking o Diplophonia  ‘two tone’ voice
o Perilaryngeal discomfort o Weak ‘bovine’ cough
o Choking with fluids
• Vocal cord palsies affect the left side 75%, the right side 15% or both 10%  of the malignant disease the
most common is cancer of the bronchus
• When investigations of a vocal nerve palsy are done the cause should be assumed to be malignant unless
proven otherwise
• A CXR is mandatory  also a CT scan (skull base to midthorax) if the x-ray shows nothing abnormal  other
investigations may include an ultrasound of the thyroid gland and rigid endoscopy if the aerodigestive tract
under GA
• It is also important to consider that the vocal cords may be paralysed for other reasons  for example the
cricoarytenoid joint may become fixed due to severe RA or reflux  here direct laryngoscopy is
recommended under GA
• Most management is awaiting recovery (up to 1yr) as the disease is self limiting  however, voice therapy
and vocal cord medialisation may also help recovery
Demonstrate knowledge of the diagnostic features and causes of muscular tension dysphonia
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• Muscle tension dysphonia is the commonest cause of voice disorders seen is secondary care  it is caused by
an imbalance of ‘pull’ in the cords which results in excessive tension of the paired laryngeal muscles
• There are many multifactorial aetiologies including
o Stress
o Anxiety
o Depression
o Conversion disorders
o Neck/back problems
o Poor vocal hygiene
o Lifestyle  vocal abuse, not enough fluids, too much tea/coffee/fizzy drinks, eating late/fatty food
o A secondary mechanism  such as excessive tension required to overcome a deficiency in the voice
producing mechanism  e.g. structural defect of cords or poor respiratory function
• It presents as a variable hoarseness and can range from normal to no voice  voice usually worsens with use
and may be a little deeper or higher for the expected age and sex  the voice is unstable and there is a
dryness/uncomfortable sensation in the throat
• Signs include a croaky/hoarse, breathy, bizarre or aphonic voice  the voice quality can vary and may
sometimes be normal
• The cough is often normal, even with aphonia  vocal folds appear normal in appearance and movement but
either constriction of false cords, antero-posterior constriction or extreme sphincter closure when the vocal
folds disappear from view beneath the false cords.
• Treatment involves
o Vocal hygiene
o Lifestyle advice
o Voice therapy
o Addressing the underlying causative factors
Demonstrate knowledge of the diagnostic features and causes of benign vocal cord lesions
NODULES
• Most common cause is voice abuse, shouting, talking above background noise and reflux
• Mostly seen in young adults (<40)  much commoner in women
• Symptoms
o Husky voice worsens with use
o Loss of higher range of voice
o Peri-laryngeal discomfort
• Bilateral swellings in mid-membranous portion of vocal fold giving hourglass appearance
• Treatment  voice therapy or surgical excision if unresponsive
POLYPS
• Most common cause is shouting when suffering with a cold or extra-oesophageal reflux
• More common in men than women  affects people in 30s-50s
• Symptoms
o Husky voice worsens with use  may be deeper
o Voice cuts out during speaking  choking episodes if very large
• Usually unilateral grey or haemorrhagic swelling arising from mid-membranous portion of the vocal fold 
smooth edge
• Treatment
o Surgical excision
o Medical treatment
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o Voice therapy
REINKE’S OEDEMA
• Most common cause is smoking  however, talking a lot and extra-oesophageal reflux can contribute
• Equally common in men and women  but more noticeable in women
• Present with deep pitched gravelly voice  women often mistaken for men on phone  if severe may cause
choking episodes
• Usually bilateral grey or erythematous swellings along whole length of membranous portion of the vocal fold
• Treatment
o Smoking cessation
o Surgical reduction of polypoid swelling
o Medical treatment of reflux
o Voice therapy
CYSTS
• Cause is unknown  some may develop after laryngeal inflammation and some may be congenital
• Not known, some may develop after laryngeal inflammation, some may be congenital
• There are 2 types of cysts
o Mucus retention cysts
o Epidermoid cysts
• Symptoms
o Husky voice
o Pitch breaks
o Loss of range of voice
o Increased effort to produce voice
• Sign  unilateral nodular swelling or localised bulge or stiffness of vocal fold
• Treatment
o Voice therapy can help reduce secondary muscle tension
o Surgical excision
Demonstrate knowledge of the diagnostic features and causes of reduced and absent vocal cord mobility
• Reduced or absent vocal cord mobility can result in the cords coming to rest laterally or medically  if lateral
the voice will be poor, but the airway good  if medial the voice will be good, but the airway will be poor
• The major causes are
o Viral infection o Damage from intubatio
o Cancers of the cord/joint  benign or o Laryngeal reflux
malignant o Functional dysphonia
o Tumour of the nerve o Laryngitis
FUNCTIONAL DYSPHONIA
• This is a diagnosis that includes a wide variety of non-organic voice problems
• The patient may present with a weak of hoarse voice that tires easily and is abnormally pitched  these
problems can be attributed to laryngeal dysfunction resulting from vocal strain, stress and psychological or
psychiatric problems
• The patient may have experience some form of stress or life event at the time of onset and it is not infrequent
that a family member/friend has recently developed a serious throat condition
• Firm reassurance is necessary and speech therapy can relieve laryngeal tension  on rare occasions the help
of a psychiatric may be needed
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ACUTE LARYNGITIS
• The larynx can become inflamed in isolation or as part of a general infective process  when only the larynx is
affected it may be due to vocal abuse or voice strain  as well as due to irritant substances such as cigarette
smoke or alcohol fume
• A hoarse voice is the most common compliant  but occasionally complete aphonia may occur  the
patient may also complain of pain on speaking and swallowing
• If there is an infective element  then general malaise and slight pyrexia may be present
• The vocal cords appear red and oedematous  often the whole larynx is inflamed with swelling of the
arytenoids and false cords  movement of the cords is restricted here but symmetrically and without
paralysis
• Treatment is largely supportive with
o Steam inhalation
o Voice rest
o Simple analgesia
o Gentle warmth applied to the anterior neck
o Cough suppressants may help if this is a prominent feature
• Forced vocalisation of an already inflamed larynx can lead to haemorrhage into the vocal fold and the
resulting fibrous reaction can lead to permanent vocal disorder.
EPIGLOTTITIS
• This is an acute and life threatening condition  must always be considered in pyrexia children with a sore
throat  caused by H.influenzae
• It can start with features of an URTI and rapidly progress to total airway obstruction within hours  usually
occurs in children but can also affect adults where the whole supraglottis is usually involved
• Features include
o Difficulty in swallowing o A change in child’s cry
o Drooling o High grade pyre is
o A change in voice o Inspiratory stridor
• Avoid lying the patient down as this can lead to a collapse of the airways  the patient will usually be sitting
up and using their accessory muscles for respiration
• No intra-oral investigations should be performed without the equipment for intubation or emergency
tracheostomy
• Treatment is rapid IV antibiotics  Cetfriaxone
CROUP
• This is usually viral in origin  parainfluenza mainly, but RSV and adenovirus can also cause it
• It causes diffuse inflammation of the airways  not just the supraglottis
• It tends to have a longer course then Epiglottitis and can be serious or even fatal
• A low grade URTI is common followed by a rise in temperature and presence of inspiratory stridor  a
generalised deterioration ensues and the child quickly becomes toxic
• Treatment is with IV antibiotics (if bacterial) and nebulised adrenaline  a period of ventilation may be
necessary is serious cases
LARYNGEAL DIPHTHERIA
• Extremely rare in the UK  but early treatment with antibiotics and antitoxin is needed
• The symptoms are a hoarse voice, cough and later stridor  which can progress to total airway obstruction
 it can also affect the oral cavity and pharynx causing erythema and swelling
• Damage to the myocardium and peripheral nerve from the toxin can occur
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CHRONIC LARYNGITIS
• This is often multifactorial  but the most important aetiological factor is smoking  but patients can often
trace things back to a nasty URTI and since this they have been hoarse
• Once inflammation has occurred it is sustained due to a combination of factors such as
o Vocal abuse o Environmental pollutants
o Chronic bronchitis o Acid reflux
o Sinusitis  leading to post nasal drip o Alcohol fumes
• Rarely TB, syphilis and fungal infections can be a cause
• The patient complains of a hoarse voice  examination will show erythematous cords which may be
thickened and oedematous  even a small amount of oedema in Reinke’s space will be slow to resolve due to
the poor lymphatic drainage of the area
• Chronic inflammation can lead to dysplasia and carcinoma in situ so this must be watched
• Management consists of intensive speech therapy and the removal of causative factors  surgery is more
diagnostic now so has been largely abandoned
Demonstrate knowledge of the diagnostic features and causes of common voice disorders
• Voice problems include
o Laryngitis o Cysts
o Muscle tension dysphonia o Papillomatosis
o Nodules o Carcinoma
o Polyps o Cord palsy
o Reinke’s oedema
• Dysphonia  any impairment in the voice or difficulty speaking
• Dysarthria  imperfect articulation of speech due to disturbances of muscular control incoordination
• Dysphasia  impairment of speech and verbal comprehension (sensory dysphasia) or speech and verbal
production (expressive dysphasia) especially when associated with brain injury
• Hoarseness  a perceived rough, harsh or breathy quality to the voice
• Voice problems can be categorised into one of the following causes  one of the may lead to another and
more than one may be present at once
o Inflammation
o Muscle tension imbalance
o Structural/Neoplastic
o Neuromuscular
• Assessing a voice problem should include
o A history
o Listening to the voice
▪ If rough  then implies a problem with the way the vocal folds are vibrating or false cords
being used
▪ If breathy  then implies problem bringing vocal folds together  e.g. vocal cord palsy
o Visualise the larynx
o Palpate the neck
o Identify any contributing factors
• Treatment depends on the condition causing the dysfunction  however, injecting materials to change the
position of the cords and laryngeal framework surgery (thyroplasty) are used to medialise a lateralised cord
• Firstly it must be mentioned that surgeons usually like to wait 6 months before operating (unless urgent) as
sometimes vocal cord function can return.
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• Thyroplasty  performed under local anaesthetic so voice can be assessed during operation  this involves a
small neck incision and exposure of the thyroid cartilage  an oblong window is cut into the cartilage below
the level of the vocal cord and then a silastic shim is inserted to manually reposition the cords
• Alternatively a thick fluid can be injected lateral to the cord and hence push it closer to the midline
• If the cords are medialised and need lateralising then the cords can either be manually repositioned as above
or a section of cord can be removed to improve breathing
LARYNGITITIS
Infectious
• Most common cause is viral  either part of an URTICARIA or recurrent respiratory papillmatosis (RRP) due to
HPV  bacterial causes is rare  if fungal causes most like to be Candida secondary to steroid inhalers or
immunosuppression
• Symptoms
o Acute viral or bacterial laryngitis
o Hoarse or croaky voice
o Complete loss of voice (aphonia) in severe cases
o Pain on voice use, coughing or swallowing
o Irritant paroxysmal coughing
o Generally other symptoms of an URTI
• Fungal laryngitis is similar to viral laryngitis, but without symptoms of URTI
• RRP laryngitis  can affect infants and children when can be quite aggressive and cause severe dysphonia
and airway problems  in adults usually less aggressive but can cause severe dysphonia
• Signs
o Acute viral or bacterial cases  erythematous or sloughy vocal folds
o Papillomas are usually multiple, raised erythematous lesions on the vocal folds and anywhere in the
larynx
o Candida appears as white dots of leukoplakia
• Treatment for acute viral or bacterial laryngitis is minimal as the condition usually self-limiting and settles
with:
o Voice rest
o Analgesia
o Fluid hydration
o Steam inhalations
o Cough suppressants as necessary
o Occasionally antibiotics required
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• RRP laryngitis usually needs surgical excision with a laser or microdebrider
Non-infectious
• Most common cause is extra-oesophageal (or "silent") reflux, which causes damages from acid and pepsin
 but only 40% will have heartburn, hence term “silent reflux”
• Symptoms
o Variable huskiness
o Voice may worsen with use
o Loss of higher range of voice
o Associated throat symptoms
▪ Chronic throat clearing
▪ Cough
▪ Excessive mucus in throat
▪ Choking episodes
▪ Globus sensation
▪ Difficulty swallowing food or pills  no true dysphagia
• General sign is erythema and oedema of vocal folds and larynx
• Treatment
o Vocal hygiene and dietary advice
o Proton pump inhibitor twice daily before breakfast and evening meal for a minimum of 2 months
o +/- alginates and H2 antagonists
Know the key features and common symptoms that help distinguish benign from malignant causes of hoarseness i.e.
the significance of smoking, age, change in voice quality, and associated stridor, otalgia and dysphagia
QUESTIONS TO ASK IN GENERAL PRACTICE
• Could the patient have cancer?  are they at risk:
o smoker, ex-smoker or are exposed to smoke occupationally/socially
o difficulty breathing or swallowing
o family history of throat/laryngeal cancer
o complaining of pain or referred otalgia
o have a lump in the neck
• If Yes  refer on the '2 week wait cancer referral'
• Could the patient have infective laryngitis?
• Are there other symptoms and signs of an upper respiratory tract infection?
• Is the voice problem related to voice use/’abuse’ &/or poor vocal hygiene?
• What does the patient do for a living, socially or domestically with their voice?
• What is their lifestyle and diet like?
o How much tea, coffee, cola do they drink?
o Do they drink any water?
o Do they eat irregularly or late at night, have large meals before going to bed?
o Eat a lot of spicy, fatty food?
o Suffer from heartburn, indigestion, acid regurgitation, throat clearing, coughing or choking
episodes?
• Has the voice problem persisted for > 6/52?
• They need referring for a laryngeal examination  if at risk of cancer, via the 2 week wait
ASSESSMENT OF A VOICE PROBLEM

• History
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o Listen to voice:
▪ Rough or breathy?
▪ Constant/variable?
▪ Pitch too low or too high?
▪ Voice too loud or difficulty hearing it?
o Visualize the larynx
• Fibreoptic or rigid telescopes or laryngeal mirror
• Stroboscopy  allows wave motion of mucosa to be observed
• Identify contributing factors
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Respiratory CP2 Learning Objectives Community
COMMUNITY LEARNING OBJECTIVES

RESPIRATORY
ASTHMA
DEFINITION
• Characterised by recurrent episodes of dyspnoea, cough & wheeze caused by reversible airway obstruction
AETIOLOGY
• Most childhood asthmatics either grow out of asthma in adolescence or suffer much less as adults
• A significant number of people develop chronic asthma late in life  occupational, HRT or drug related
SIGNS & SYMPTOMS

Symptoms
• Common symptoms
o Intermittent dyspnea
o Wheeze
o Cough  often nocturnal
o Sputum
• Precipitants  cold air, exercise, emotion, allergence, infection, smoking & drugs (NSAIDS)
• Diurnal variation  in symptoms or peak flow  marked morning dipping of peak flow is common
• Exercise  quantify the exercise tolerance
• Disturbed sleep  quantify as nights per week
• Acid reflux 40-60% of those with asthma have reflux  treating it improves spirometry, but not
necessarily symptoms
• Other atopic disease  eczema, hay fever, allergy or FHx
• Job  paint sprayers, food processors, welders and animal handlers
Signs
• Tachypnoea
• Audible wheeze
• Hyperinflated chest
• Hyperresonant percussion note
• Decreased air entry
• Widespread, polyphonic wheeze
PATHOPHYSIOLOGY
• Three factors
o Bronchial muscle contraction  triggered by a variety of stimuli
o Mucosal swelling/inflammation  caused by mast cell & basophil degranulation resulting in
release of inflammatory mediators
o Increased mucus production
RISKS
• Associated diseases
o Acid reflux o ABPA
o Polyarteritis nodosa
o Churg-Strauss syndrome
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INVESTIGATIONS
• Peak expiratory flow monitoring  diurnal variation of >20% on >3/7 for 2wks
• Spirometry  obstructive defect  reduced FEV1/FVC ^& increased RV  usually >15% improvement in
FEV1 following B2 agonist or steroid trial
• CXR  hyperinflation
• Skin-prick test  may help to identify allergens
• Histamine or methacholine challenge
• Aspergillus serology
TREATMENT
EPIDEMIOLOGY
• Affects 5-8% of the population
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• Approx 1000 asthma deaths in the UK in 2009  50% were >65y/o
DIFFERENTIALS
• Pulmonary oedema  ‘cardiac asthma’
• COPD  mo co-exist
• Large airway obstruction  foreign body or tumour
• SVC obstruction  wheeze/dyspnea, not episodic
• Pneumothorax
• PE
• Bronchiectasis
• Obliterative bronchiolitis  suspect in elderly
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COPD
DEFINITION
• Progressive disorder characterised by airway obstruction (FEV1 <80%, FEV1/FVC <0.7), with little or no
reversibility  includes chronic bronchitis and emphysema
• Disease state characterised by airflow limitation  which is usually both progressive and associated with
an abnormal inflammatory response to the lungs to noxious particles or gases
SIGNS & SYMPTOMS

History
• Cough  productive white/clear sputum/haemoptysis  has it changed to normal volumes if infective?
• Appearance?  respiratory distress, hunched over, pursed lip breathing
• Shortness of breath on exertion
• Wheeze, breathlessness  following years of “smokers cough”
• Frequent infection
• Fatigue
• Obesity and sleep apnoea related
• Systemic effects include
o Hypertension
o Osteoporosis
o Depression
o Weight loss
o Loss of muscle mass with weakness
o Cor Pulmonale
o Peripheral oedema
o Low mood
o Anxiety  closely affected with ability to breath
• Could be associated with cardiovascular disease, peripheral vascular disease,
• Exercise tolerance  ability to function will decrease
Signs
• Mild disease may give quiet wheeze
• Tachypnoeic with prolonged expiration
• Crepitations if infection
• Accessory muscles may be recruited and intercostal muscles may be indrawn during inspiration with lips
pursed
• Chest expansion poor, lungs hyperinflated, loss of cardiac and liver dullness
• Hypercapnia may produce a bounding pulse, peripheral vasodilation and flapping tremor
• Elderly men may develop barrel chest due to weakening of spine and loss of height
• Pink puffers  higher alveolar ventilation, nearly normal PaO2 and a normal or low PaCO2. Breathless but
not cyanosed, may go on to develop type 1 resp failure
• Blue bloaters  lower alveolar ventilation, lower PaO2 and a high PaCO2. Cyanosed but not breathless, may
go on to develop cor pulmonale.
PATHOPHYSIOLOGY
COPD
• Main pathological finding is the increased number of mucus secreting goblet cells in the bronchial mucosa,
particularly larger bronchi  in more overt disease, inflammation and pus may be seen
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• Microscopically the walls of the bronchi and bronchioles will be infiltrated with inflammatory cells 
predominantly CD8
• Epithelial layer may become ulcerated and when replaced, develop a squamous instead of usual columnar
• Scarring and thickening lead to narrowing of airway
• Small airways are affected in the disease at earlier stages  further progression of airway disease leads to
progressive squamous cell metaplasia and fibrosis  airway becomes heavily limited
• Failure of respiratory effort will often result in increased CO2 levels but this is not always the case  short
term leads to an increased RR, but long term leads loss of sensitivity to CO2  patients will rely on the
hypoxic drive to stimulate breathing
Emphysema
• Emphysema is defined as dilation and destruction of lung tissue distal to the terminal bronchiole
• Normally inflammatory proteases are inactivated  eg alpha-1-antitrypsin  if they are not inactivated,
lung tissue is destroyed
• Increased inflammation (smoking) or decreased and-protease activity (a1a deficiency) will results in net
destruction of lung tissue
• Emphysema leads to expiratory airflow limitation and air trapping
• Loss of elasticity increased TLC  loss of alveoli leads to decreased gas exchange and V/Q mismatch
• Leads to a fall in PaO2 and increased respiratory work demand.
• Patients become hyperexpanded and find it difficult to “blow off” their CO2 and begin to retain it
• On examination, patients will have a prolonged expiratory period  they find it difficult to breath out
because their lungs are less elastic
RISK FACTORS
• Smoking and inhalation of smoke  development proportional to number of cigarettes smoked
• Air pollution
• Individual susceptibility
• Alpha-1-antitrypsin deficiency
• Occupation
INVESTIGATIONS
• Lung function test will show evidence of airflow limitation  decrease FEC and FVC1 and reduction in
ration <70%
• CXR often normal  CT may outline bulla
• Hb and CRP may be raised
• ABG may be normal at rest
o In an acute exacerbation applying too much oxygen may cause worse inspiratory failure  masking
hypoxia when given air
o 88-92% aim for O2 says
o Rely on hypoxic drive  avoid excess O2 in CO2 retainers
• Shunt  lung will optimise the parts of the lung that are still able to do their job (eg. not the emphysema
alveoli)  oxygen will make the damaged alveoli smaller and the working alveoli bigger  when giving too
much O2,”awakens” the damaged alveoli to get bigger, and get blood  BF distributed which then means
not enough blood to alveoli which can do gas exchange properly  this increase CO2 retention  Haldane
effect
• ECG and echo useful if heart involvement suspected
• Alpha-1-antitrysin investigation may be required in younger patients or non-smokers
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MANAGEMENT
Smoking Cessation
• Nicotine replacement therapy (NRT)
o Provides a low level of nicotine without the chemicals present in tobacco
o Helps reduces withdrawal effects
o Available as skin patches, chewing gum, inhalers, tablets, nasal or mouth spray
o Often people use multiple sources at a time  eg skin patch + gum combo
o Usually lasts between 8-12 weeks before you start to reduce the dose
• Varenicline (Champix)
o Reduces cravings and blocks the rewarding and reinforcing effects of smoking  nicotinic receptor
partial agonist
o Available only on prescription  course usually lasts around 12 weeks
• Bupropion (Zyban)
o Originally used to treat depression but found to also be a nicotine agonist
o Prescription only  course usually lasts around 7-9 weeks
• E-cigarettes
o Electronic device that delivers nicotine in a vapour thus inhaling nicotine without most of the
harmful effects from smoking as the vapour doesn’t contain tar or carbon monoxide
o Research shows that they can help you give up smoking  but more successful when used in
conjunction with NHS stop smoking services.
o Not yet available on prescription
Inhalers and steroids

• Regular bronchodilators (β2-agonist + short acting antimuscarinic - ipratropium) are the mainstay of
therapy
Exacerbation
• Oxygen 24-28% MAX  COPD patients rely on hypoxic drive
• Salbutamol  2-5mg
• +/- Ipratropium w/ salbutamol  500 micrograms
• Prednisolone (7- 14 days)  30mg
Long Term Oxygen Therapy

• Strong evidence of survival benefit of long term oxygen therapy in patients with COPD when used for at
least 15 hours daily
• Consider this therapy when FEV1 <30% predicted, cyanosis, polycyhaemia, peripheral oedema, raised JVP,
O2 Sats <92% on air
• Oxygen therapy must be used with care in the acute setting  eg. aiming for O2 sats 88-92%
Assisted Ventilation – Non Invasive Ventilation (NIV)

• Management for acute type II respiratory failure in COPD  administration of ventilator support without
using an invasive artificial airway
• Used in the ICU and ward environment in patients with decompensated respiratory acidosis (pH<7.35 and
PaCO2 >6kPa) when medical help has not helped after 1 hour  eg. Oxygen, Salbutamol and Ipratropium
NEBS, Prednisalone
• Positive pressure ventilation delivered through a mask has become the predominant method of providing
NIV
Other management that should be considered

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• Vaccinations  eg. flu to keep people well and out of hospital
• Pulmonary rehabilitation
• Surgery  bullectomy, Lung Volume Reduction Surgery or transplant
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Cardiovascular CP2 Learning Objectives Community
CARDIOVASCULAR
HYPERTENSION
DEFINITION
• Persistently elevated blood pressure (>140/90)
AETIOLOGY
• Essential hypertension (90%)  cause unknown
• Secondary hypertension (10%)  hypertension is caused by another condition, such as:
o Renal disorders
o Cushing’s syndrome and pituitary/adrenal tumours
o Vascular disorders
o Thyroid disorders
o Pheochromocytoma
o Alcoholism
o Pregnancy
SIGNS & SYMPTOMS

• Hypertension is commonly asymptomatic until late stages
• Common symptoms
o Headaches  particularly at back of head
o Light headedness
o Vertigo
o Tinnitus
o Altered vision
o Syncope
• On examination, there may by signs of changes to the optic disc caused by hypertensive retinopathy
• Hypertensive emergency (>180/110)  evidence of direct damage to one or more end organs producing
symptoms  such as chest pain, breathlessness, confusion and drowsiness
• In infants  hypertension may present as failure to thrive, breathlessness, seizures or irritability
• In children  it may present as headaches, irritability, nosebleeds, facial paralysis, fatigue, failure to thrive
or blurred vision.
PATHOPHYSIOLOGY
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RISK FACTORS
• Age • Excessive alcohol consumption
• Family history • Obesity
• Stress • Little or no exercise
• Sleep apnoea • High salt (sodium) diet
• Afro-Caribbean or South Asian ethnicity • Low potassium diet
• Smoking
INVESTIGATIONS
• Measure blood pressure in clinic  re-check 2/3 times over next few weeks if <140/90
• Offer ambulatory blood pressure monitoring to confirm the diagnosis
TREATMENT
• Arrange a same day admission if there are signs of malignant hypertension  >180/110 with papilloedema
and/or retinal haemorrhage
• Reinforce lifestyle advice
EPIDEMIOLOGY
• WHO estimates that between 30-40% of the global population are hypertensive
• 7 million deaths attributed to hypertension every year
• Most common diagnosis in primary care in the US
• Prevalence increasing rapidly in the developed world due to diet and lifestyle factors
973
ATRIAL FIBRILLATION
DEFINITION
• An abnormal heart rhythm characterised by rapid and irregular heart beating
• Most common arrhythmia
• Occurs in 5-10% of patients over 65 years of age
• Also occurs in a paroxysmal form in younger patients
AETIOLOGY
• Cardiac causes include
o Ischaemic heart disease
o Rheumatic heart disease
o Cardiomyopathy
o Wolff-Parkinson-White syndrome
o Atrial septal defect
o Pericarditis
o Cardiac surgery
• Pulmonary causes include
o Pneumonia
o Carcinoma of the bronchus
o Pulmonary embolus.
• Thyroid causes include  hyperthyroidism and thyrotoxicosis.
• Lone atrial fibrillation (no causes found)
SIGNS & SYMPTOMS

• Most classical sign is an irregularly irregular pulse
• Other S&S include
o Palpitations
o Dyspnoea
o Fatigue
o Dizziness
o Syncope
o Angina
PATHOPHYSIOLOGY
• Primary change seen in the AF is progressive fibrosis of the atria  this is brought about by atrial dilation
 however, genetic causes and inflammation could cause fibrosis
• Atrial dilation is typically caused by structural abnormalities in the heart that cause a rise in pressure within
the heart  once dilation has occurred, RAAS is activated and there is a subsequent increase in matrix
metalloproteases and disintegrins  this leads to atrial remodelling and fibrosis, with loss of atrial muscle
mass
• With loss of atrial muscle mass  the electrical impulse generated by the SA node do not propagate
smoothly through the myocardium
• Although the electrical impulses of AF are generated at a high rate  most of them do not result in a
heartbeat  a heartbeat only results when the electrical impulses travel through the AV node into the
ventricles, allowing them to contract
INVESTIGATIONS
• History taking and examination is important as it elicits the classical signs and symptoms of AF
974
• U&Es and TFTs are done to assess kidney function and to find out any thyroid causes of AF  additionally,
troponin can also be done if an acute cardiac cause of AF is suspected
• ECG is the diagnostic tool in AF  in AF, the ECG findings show no P wave with a typical fibrillatory
waveform
• In atrial flutter  atrial rate is typically 300 beats/min and a typical sawtooth flutter wave can be seen
• Echocardiography is done to find any presence of valvular heart disease  which may increase the risk of
stroke
• The classification of AF is as follows
o First detected
o Paroxysmal  recurrent episodes that stop on their own in less than 7 days
o Persistent  more than 7 days
o Permanent.
MANAGEMENT
• In haemodynamically unstable patients  immediate heparinisation and attempted cardioversion with
synchronized DC shock is given  if cardioversion fails or AF recurs, intravenous amiodarone is given
before a further attempt at cardioversion  a second dose of amiodarone can be given
• There are two strategies for long term management of AF  rate vs rhythm control
o Rate control aims to reduce heart rate at rest and during exercise but the patient remains in AF 
β-blockers or calcium antagonists are preferred except in sedentary people where digoxin is used
o Rhythm control is used in
▪ Younger patients  <65 years of age
▪ Patients who are highly symptomatic
▪ Patients who also have congestive heart failure
▪ Individuals with recent onset AF
• Conversion to sinus rhythm is achieved by electrical DC cardioversion and then administration of β-blockers
to control rate  other agents used depend on the presence (amiodarone) or absence (sotalol, flecainide,
propafenone) of underlying heart disease  in unresponsive patients, cathether ablation techniques are
used.
• Patients with infrequent paroxysmal AF who has no underlying heart disease are treated on an as-needed
basis with oral flecainide or propafenone
Anti-coagulants
• Anticoagulants are indicated for all patients with AF except for those with low risk of stroke or high risk of
bleeding  this is because AF is associated with a five-fold increase risk of stroke
• The risk of an embolism causing a stroke is assessed using the CHA2DS2-VASc score
Condition Score
C Congestive heart failure (or left ventricular systolic dysfunction) 1
H Hypertension (consistently above 140/90mmHg or treated) 1
A2 Age 75 years or above 2
D Diabetes Mellitus 1
S2 Prior stroke/TIA/Thromboembolism 2
V Vascular disease 1
A Age 65-74 years 1
Sc Sex category (ie female sex) 1
• The 1-year risk of major bleeding is assessed using the HASBLED score.
975
• HASBLED stands for
o Hypertension
o Abnormal kidney/liver function (each score 1 mark)
o Stroke
o Bleeding
o Labile (unstable/high) INR
o Elderly (age>65 years)
o Drug and alcohol use/medication predisposing to bleeding (each score 1 mark)
• The anticoagulants most commonly used is the vitamin K antagonist warfarin  novel anticoagulants
(dabigatran, rivaroxaban, apixaban) are also commonly used
976
Gastroenterology CP2 Learning Objectives Community
GASTROENTEROLOGY
REFLUX/DYSPEPSIA
DEFINITION
• Dyspepsia is painful, difficult or disturbed digestion  AKA indigestion
• Gastrooesophageal reflux is the return of stomach contents back up the oesophagus
AETIOLOGY & PATHOPHYSIOLOGY

• Dyspepsia has multiple causes
o GORD (55%)
o Functional dyspepsia (30%)  e.g. due to hypersensitive mucosa, gastric stretch pain, stress
o Peptic ulcer (10%)  e.g. H Pylori bacteria and NSAIDs damage the mucosa, smoking increases acid
in the stomach
o Others  including cancer and gastritis
• GORD has multiple causes:
o Relaxation of the gastrooesophageal sphincter  e.g. due to smoking, oestrogen
o Deformity of the gastrooesophageal sphincter  e.g. due to hiatus hernia
o Mechanical pressure on the stomach  e.g. due to obesity, pregnancy, cough
o Lack of salivary flushing of the oesophagus  e.g. due to anticholinergic use
o Lack of gastric motility  e.g. due to diabetes
SIGNS & SYMPTOMS

• Major common symptoms
o Regurgitation (30%)
o Retrosternal pain  AKA heartburn (30%)
o Epigastric pain (30%)
• Less important signs and symptoms
o Bloating
o Nausea
o Vomiting
o Sleep disturbance  particularly night-time awakening due to ulcers
o Cough on lying down
o Irritability
• Severe symptoms of peptic ulceration
o Dark or black stool  due to bleeding
o Vomiting blood  that can look like "coffee-grounds"
o Severe pain in the mid to upper abdomen
o Weight loss
• Duodenal vs gastric ulcer symptoms:
o Duodenal  pain 2/3 hours after meals  eating relieves pain
o Gastric  pain 0.5-1 hour after meals  eating aggravates pain
RISK FACTORS
• Obesity • Asthma
• Smoking • Hiatus hernia
• Pregnancy • Excessive alcohol consumption
• Diabetes • Stress
977
INVESTIGATIONS
• H Pylori Test  H Pylori tests (carbon-13/14 breath test, or stool antigen are both OK)
• Upper GI endoscopy if
o Significant upper GI bleeding  same day referral
o Consider it if people have persistent symptoms
TREATMENT
GORD
• Suspend harmful drugs use  e.g. NSAIDs, bisphosphonates, corticosteroids, CCBs, theophyllines
• Community pharmacist should offer antacid/alginate
• Full dose PPI (omeprazole) for 4 weeks  step down if it works  it’s used to heal the oesophagitis
• H2 antagonist (ranitidine) if inadequate response to PPI
• THEN SPECIALIST REFERRAL IF UNRESPONSIVE
o Fundoplication  if people don’t want to continue therapy, or if cannot tolerate acid suppression
Peptic ulcer
• If H Pylori positive  antibiotic triple therapy vs H Pylori  7 day course PPI + amox + metronidazole or
clarithromycin
• Then retest after 6-8 weeks
Functional dyspepsia
• Long term PPI or H2 antagonist
Barrett’s oesophagus
• Endoscopic surveillance to check for progression to cancer  annual review of symptoms
EPIDEMIOLOGY
• Affects 40% of people once a month
• Affects 5% of people every day
978
IRRITABLE BOWEL SYNDROME

DEFINITION
• A widespread condition commonly involving recurrent abdominal pain and diarrhoea or constipation, with
no identifiable underlying organic pathology
• Generally associated with stress, anxiety, depression or previous intestinal infections
AETIOLOGY
• Causes of IBS remain poorly defined
• Theories include
o Abnormal GI transit profiles
o Colonic muscle hyper/hypo-activity
o Psychological illness resulting in the production of pro-inflammatory cytokines
SIGNS & SYMPTOMS

• Altered bowel habits
• Abdominal pain and/or distention
• Postprandial urgency
• Dyspepsia
• Urinary symptoms
• Nausea and vomiting
• Stressor-related symptoms
PATHOPHYSIOLOGY
• Generally considered to be a triad of
o Altered GI motility
o Visceral hyperalgesia
o Psychopathology
• Underlying mechanism is still unproven
• Microscopic inflammation has been documented in some patients
RISK FACTORS
• Female >> Male
• Age  teenager – 50’s
• Family history
• Emotional disturbances and/or mental illness
• Food sensitivities
• Some medications  antibiotics, antidepressants, drugs made with sorbitol
• Other digestive problems
INVESTIGATIONS
• FBC, ESR, CRP
• Coeliac screen
• CA125 for women with symptoms that could be ovarian cancer
• Faecal calprotectin for those with symptoms that could be IBD
MANAGEMENT
• Reassurance and explanation are vital
• Discuss the likely long-term implications and course of the condition with the patient
979
• Provide information about self-help, including diet and exercise, as well as symptom-targeted medications
available OTC
• Loperamide to manage diarrhoea and laxatives to manage constipation
• Antispasmodics for abdominal pain and spasms  Peppermint oil as a natural alternative
• Antidepressants
• Antibiotics to alter the GI tract bacterial composition  short course rifaximin or neomycin
• Psychological therapies
EPIDEMIOLOGY
• IBS is thought to affect 10-20% of the UK’s population
• Wide geographical variation, with prevalence ranging from 1% in some countries to 45% in others
• More common in women than men
• Peak prevalence is between age 20 - 30
980
Pyschiatry CP2 Learning Objectives Community
PSYCHIATRY
DEMENTIA
DEFINITION
• Dementia is a neurodegenerative disorder resulting in a loss of mental ability severe enough to interfere
with normal activities of daily living, lasting more than six months, not present since birth, and not
associated with a loss or alteration of consciousness.
AETIOLOGY
• 60-70% of dementia is caused by Alzheimer’s Disease (AD)
• 20% is caused by vascular dementia (VD)  typically a series of minor strokes
• Reversible causes of dementia:
o Hypothyroidism
o Vitamin B12 deficiency
o Lyme Disease
o Neurosyphilis
• Dementia with Lewy-bodies (DLB) is closely related to Parkinson’s disease
• Frontotemporal dementia (FTD) has a genetic link in 20% of cases
• Rarer causes include
o Progressive supranuclear palsy
o Corticobasal degeneration
o Alcohol related dementia
o AIDS
• It is possible to have two types of dementia at the same time  mixed dementia
SIGNS & SYMPTOMS

• Slow and progressive onset
• Syndrome of signs and symptoms most commonly demonstrated by memory, visual-spatial, language,
attention and problem solving impairment
o Early stage  memory difficulty, problems finding words (anomia), getting lost and problems with
planning and organisational skills  MMSE = 20-25
o Middle stage  worsening of early symptoms  MMSE = 6-19
o Late stages  decreased appetite, inability to recognise hazards, incontinence, insomnia, reduced
mobility and increased fragility  MMSE = 0-6
• Behavioural and psychological symptoms of dementia (BPSD)
o Agitation
o Depression
o Anxiety
o Psychosis (including hallucinations and delusions)
o Physical aggression
o Apathy
o Disinhibition and impulsivity
o Abnormal motor behaviour
981
PATHOPHYSIOLOGY
• AD  progressive atrophy and deposits of plaques and tangles (plaque burden does not correlate well with
cognitive status during life  instead, neurofibrillary tangle distribution is more strongly associated with
cognitive status)
• VD  Ischaemia, infarct and arteriolosclerosis are thought to cause ischemia-induced demyelination
and/or axonal loss, can result in breakdown of the blood brain barrier, and/or breakdown of the blood CSF
barrier
• DLB  Development of abnormal collections of alpha-synuclein protein within the cytoplasm of neurones
(Lewy bodies). Loss of dopamine-producing neurones in the substantia nigra. Cerebral atrophy occurs as
the cortex degenerates.
RISK FACTORS
• Age • Diabetes
• Excessive alcohol consumption • Hypertension
• Down’s syndrome • Mental illness
• Atherosclerosis • Smoking
• Family history (particularly for FTD)
INVESTIGATIONS
• Mini Mental State Examination (MMSE) to assess level of mental impairment
• Rule out reversible causes (TFT’s and vitamin B12)
• Routine haematology
• Biochemistry (electrolytes, calcium, glucose, renal and liver function)
• CT/MRI of head
MANAGEMENT
• If cause is reversible, immediately commence appropriate treatment
• Surgical management for brain tumours, hydrocephalus or severe head trauma
• Manage dementia risk factors  hypertension, diabetes, cholesterol, smoking
• Acetylcholinesterase inhibitors for mild to moderate AD or DLB to slow progression of the disease
• Antidepressants or antipsychotics if appropriate
• Psychological treatments
o Cognitive stimulation
o Validation therapy
o Behavioural therapy
EPIDEMIOLOGY
• Affects 47.5 million people worldwide (850,000 in the UK in 2015)
• Higher prevalence in women than in men (2:1)
• Affects 3% aged 65-74, 19% aged 75-84 and 29% aged over 85
• Early onset dementia (<65 years) affects approx. 18,000 people in the UK
• 60,000 deaths a year in the UK are directly attributable to dementia
• Two thirds of dementia patients live in the community
• Only 48% of people with dementia get a definitive diagnosis of dementia
982
DEPRESSION & ANXIETY

AETIOLOGY
• Relatives of depressed people are at increased risk of depression. Confirmed by adoption studies too
• Childhood experiences (e.g. abuse)
• Cushing's Syndrome
• Hypothyroidism
• Stroke
• Parkinson's disease
• MS
• Monoamine hypothesis (deficiency in NA, 5-HT, dopamine)
SIGNS & SYMPTOMS
RISK FACTORS
• Family History of Mental Illness  people with a family history of depressive disorders tend to be at
increased risk of developing depression
• Chronic Physical or Mental Disorders  in recent years, researchers have found that physical changes in the
body can be accompanied by mental changes  medical illnesses such as
o Stroke o Parkinson’s disease
o Myocardial infarction o Hormonal disorders
o Cancer o Chronic pain
• Previous history  a history of one or more previous episodes of depression significantly increases the risk
of a subsequent episode
• Major life changes and stress  a stressful change in life patterns can trigger a depressive episode  auch
stressful events may include a serious loss, a difficult relationship, trauma, or financial problems
• Little or No Social Support  having few or no supportive relationships can increase the risk of depression
in both men and women  however, rates of depression have been found to be higher in women who are
at home with young children, and those who describe themselves as isolated, compared to women who
are working or have a supportive social network  in many cases, restricted social networks have been
found to precede the onset of depression
• Psychological Factors  certain psychological factors put people at risk for depression  people with low
self-esteem, who consistently view themselves and the world with pessimism, or who are readily
overwhelmed by stress, may be prone to depression  other psychological factors, such as perfectionism
and sensitivity to loss and rejection, may increase a person’s risk for depression  depression is also more
common in people with chronic anxiety disorders and borderline and avoidant personality disorders
983
• Low Socioeconomic Status  being in a low socioeconomic group is a risk factor for depression  this may
be due to factors such as perceived low social status, cultural factors, financial problems, stressful
environments, social isolation, and greater daily stress
• Female Gender  women experience depression about twice as often as men  hormonal factors may
contribute to the increased rate of depression in women, particularly such factors as premenstrual
changes, pregnancy, miscarriage, postpartum period, pre-menopause, and menopause  many women
face additional stresses, such as responsibilities at work and home, single parenthood, and caring for
children and aging parents
• Age  the elderly are at a particularly high risk for depression  furthermore, they are notoriously
undertreated for depression  depression is a disorder at any age, and deserves serious treatment
• Insomnia & sleep disorders  chronic sleep problems are strongly associated with depression, and should
be treated to avoid complications
• Medications  certain medications have been implicated in depression, including:
o Pain relievers o Seizure drugs
o Sedatives o Certain medications for heart
o Sleeping pills problems, high blood pressure, high
o Cortisone drugs cholesterol, and asthma
INVESTIGATIONS
984
MANAGEMENT
PROGNOSIS
• 50-60% will recover within a year
• Chronic depression (>2yrs) occurs in 10-25%
• 5-15% will die by suicide
• Following an episode of depression
o After 1 year  25% will have had a further episode
o After 10 years  75% will have had a further episode
EPIDEMIOLOGY
• M:F = 1:2
• Lifetime prevalence of depressive symptoms 10-20%
• Point prevalence of major depressive illness 5%  of these
o 10% are referred to a psychiatrist
o 0.1% admitted to hospital
985
Endocrine CP2 Learning Objectives Community
ENDOCRINE
TYPE 2 DIABETES
DEFINITION
• Diabetes mellitus (DM) results from lack or reduced effectiveness of endogenous insulin  hyperglycaemia
is one aspect of a far-reaching metabolic derangement, which causes serious microvascular or
macrovascular problems
AETIOLOGY
• Reduced insulin secretion ± increased insulin resistance
• Other possible causes
o Drugs  steroids, anti-HIV drugs, newer anti-pyschotics and thiazides
o Pancreatic  pancreatitis, surgery, trauma, pancreatic destruction, pancreatic CA
o Hormonal  Cushing’s syndrome, acromegaly, phaeochromocytoma, hyperthyroidism, pregnancy
o Others  congenital lipodystrophy and glycogen storage disease
SIGNS & SYMPTOMS

• Symptoms of hyperglycaemia
o Polyuria o Visual blurring
o Polydipsia o Genital thrush
o Unexplained weight loss o Lethargy
PATHOPHYSIOLOGY
RISK FACTORS
• Associated with
o Obesity o Calorie & alcohol excess
o Lack of exercise o Genetics
INVESTIGATIONS
• Raised venous glucose  fasting ≥7mmol/L or random ≥11mmol/L
• HbA1c ≥48mmol/L (6.5%)
986
MANAGEMENT
987
THYROID DISORDERS
AETIOLOGY
Hyperthyroidism
• Grave’s disease (80%)
o Classic cause of diffuse goitre
o Prevalence 0.5%
o Female to male 9:1
o Typical age 40-60y (younger if maternal FH)
o Cause  circulating IgG autoantibodies (Thyroid stimulating immunoglobulins TSI) bind to and
activate G-protein-coupled thyrotropin (TSH) receptors, which cause smooth thyroid enlargement
and increased hormone production (esp T3) and react with orbital autoantigens
o Triggers: stress, infection, childbirth
o Often associated with other autoimmune diseases
o Signs  eye disease (exophthalmos, opthalmoplegia), pretibial myxoedema, thyroid acropachy
(clubbing, painful finger and toe swelling and periosteal reaction), goitre
• Toxic adenoma
o A solitary nodule producing T3 and T4
o On isotope scan the nodule is ‘hot’ and the rest of the gland is suppressed
o Goitre present
• Toxic multi-nodular goitre
o Seen in the elderly and in iodine-deficient areas
o There are nodules that secrete thyroid hormones
o Surgery indicated for compressive symptoms from enlarged thyroid (dysphagia or dyspnoea)
o Goitre present (nodular)
• Other:
o Thyroiditis  thyrotoxicosis without hyperthyroid (ie. Excess circulating hormone but no increase in
synthesis of thyroid hormone)
o Excess exogenous thyroid hormone
o Drug induced (amiodarone, lithium)
o TSH-secreting pituitary tumour
Hypothyroidism
• Primary atrophic hypothyroidism
o Autoimmune thyroid disease
o Common 6:1 female
o Diffuse lymphocytic infiltration of the thyroid leading to atrophy, therefore no goitre
• Post-thyroidectomy
• Post-radioactive iodine
o Can occur 20y post treatment
• Hashimoto’s thyroiditis
o Primary autoimmune hypothyroidism
o One of the leading causes of hypothyroidism (90%)
o Goitre due to lymphocytic and plasma cell infiltration
o Commoner in women aged 60-70y
o May be hypothyroid or euthyroid
o Rarely initial period of hyperthyroidism
988
o Autoantibody titres are very high (against TPO – enzyme that oxidises iodine to be incorporated into
thyroid hormones)
SIGNS & SYMPTOMS

Hyperthyroidism
• Diarrhoea • Rarely: psychosis, chorea, panic, itch, alopecia,
• Weight loss urticarial
• Increased appetite • Pulse fast/irregular (AF or SVT, VT rare) – pulse
• Over-active almost always abnormal
• Sweats • Warm, moist skin
• Heat intolerance • Palmar erythema
• Palpitations • Thin hair
• Tremor • Lid lag (any thyroid problem)
• Irritability • Lid retraction/ exophthalmos – Grave’s
• Labile emotions • May be goitre, thyroid nodules or bruit
• Oligomenorrhoea +/- infertility depending on the cause
Hypothyroidism
• Symptoms
o Tired and lethargic o Hoarse/deep voice
o Decreased mood o Decreased memory/cognition
o Cold intolerant o Dementia
o Weight gain o Myalgia
o Constipation o Cramps
o Menorrhagia o Weakness
• Examination findings  BRADYCARDIC
o Bradycardic
o Reflexes relax slowly
o Ataxia (cerebellar)
o Dry, thin hair/skin
o Yawning/drowsy/coma
o Cold hands/ decreased temperature
o Ascites +/- non-pitting oedema (lids, hands, feet) +/- pericardial/pleural effusion
o Round puffy face/ double chin/ obese
o Defeated demeanor
o Immobile +/- ileus
o CCF
o Also neuropathy, myopathy, goitre
989
Osteoporosis CP2 Learning Objectives Health Care of Later Life
INVESTIGATIONS
Hyperthyroidism
• TFTs
o <0.01mIU/L TSH in hyperthyroid – undetectable
o If TSH normal, diagnosis excluded
o Free T3/T4 will be raised in almost all cases = clinical hyperthyroidism
o If TSH low but free T3/T4 normal = subclinical hyperthyroidism
Hypothyroidism
• Increased TSH >5mIU/L, Decreased T4  clinical hypothyroidism
• Increased TSH, normal T4  subclinical hypothyroidism
• Cholesterol and triglyceride increased, macrocytosis
MANAGEMENT
Hyperthyroidism
Treatment Indications Advantages Disadvantages
Antithyroid drugs eg. 1st presentation Grave’s Non-invasive Low cure rate (30-50%)
Carbimazole, Short-term whilst awaiting Community based Adverse effects (1-5%)
propylthiouracil definitive treatment Low risk of permanent Frequent blood tests
Pregnancy hypothyroid Concordance needed
Low initial cost Nodular goitre/ solitary toxic
goitre will not go into remission
with drugs
0.2-0.5% risk of agranulocytosis
Radioactive iodine 1st presentation Grave’s or Effective cure Permanent hypothyroid in >60%
relapse Outpatient therapy Can worsen eye disease
Toxic nodular goitre Reduces goitre Avoid pregnancy for 6m
Adherance to radiation
protection guidelines
Surgery Large goitre Rapid control of symptoms Invasive and expensive
Suspicion of co-existing thyroid 100% cure Permanent hypothyroidism
cancer Surgical complications
Pregnancy (if serious drug (recurrent laryngeal nerve palsy,
side-effects) hypoparathyroidism)
Severe eye disease Scar
Severe adverse drug reactions
• Thyroid function monitoring after treatment
o Antithyroid drugs  once in remission and stopped drugs, retest if become symptomatic
o Radioiodine  4-6weekly until euthyroid, then annual TSH (risk of hypothyroid)
o After surgery  Annual TSH once stabilised on levothyroxine
• Beta-blockers
o Improve symptoms
o In absence of contraindications should be started and continued until euthyroid state
• Subclinical disease
o Treatment should be considered for those aged >65y and those with heart conditions (due to
increased risk of AF)
o Offer annual monitoring for progression to clinical disease (1%per year) for everyone else
990
Osteoporosis CP2 Learning Objectives Health Care of Later Life
Hypothyroidism
• Levothyroxine
o If >60y or have ischaemic heart disease start at 25-50micrograms daily and titrate up ever 3-6w as
tolerated
o ALL other patients start at full replacement dose (1.6micrograms/kg/day)
• Subclinical disease
o Treat if TSH >10mIU/L
o OR treat if 5-10mIU/L and symptomatic as a trial
NODULAR GOITRE
• Any decrease in thyroid hormones will cause an increase in TSH production
• This has trophic effects on the thyroid gland
o Gland enlarges to maximise hormone production
• Multi-nodular goitres
o Most common, especially in older patients
o Patient may be euthyroid, or hyperthyroid
o Can cause tracheal/ oesophageal compression or recurrent laryngeal nerve palsy (all in pre-tracheal
fascial compartment)
o Nodules of hyperplasia are interspersed with inactive tissue
• Solitary nodular goitre
o Consider malignancy, majority are cystic or benign
o May be associated with T3 toxicosis
o Most actually have MNG with one nodule much bigger
• Diffuse goitre
o Produced by Hashimoto’s, Grave’s, thyroiditis, iodine deficiency
991

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Respiratory System CP2 Learning Objectives Child Health

CP2 LEARNING OBJECTIVES

UNIVERSITY OF NOTTINGHAM 2017

Cardiovascular System .......................................................................................................... 30

Community Paediatrics and Psychiatry ................................................................................. 73

Surgery ................................................................................................................................ 100

Genetics & Syndromes ........................................................................................................ 130

Nephrology & Genitourinary ............................................................................................... 178

Oncology & Haematology.................................................................................................... 224

Endocrinology & Growth ..................................................................................................... 251

Emergency .......................................................................................................................... 272

Infection & Immunology...................................................................................................... 288

Musculoskeletal .................................................................................................................. 311

Specials - ENT/Dermatology/Ophthalmology ...................................................................... 329

Clinical Skills ........................................................................................................................ 378

Obstetrics & Gynaecology Learning Objectives ..................................... 381

Obstetrics ............................................................................................................................ 457

Ethics & Legal Issues............................................................................................................ 531

Psychiatric Learning Objectives ............................................................. 534

Health Care of Later Life Learning Objectives........................................ 644

Specials Learning Objectives ................................................................. 741

Dermatology Photos............................................................................................................ 796

Community Learning Objectives............................................................ 965

CVS ...................................................................................................................................... 972

Gastroenterology ................................................................................................................ 977

Psychiatry ............................................................................................................................ 981

Endocrine ............................................................................................................................ 986

CHILD HEALTH LEARNING OBJECTIVES

Be able to manage an acute exacerbation of asthma

Be able to assess asthma control during childhood

Know how to treat acute bronchiolitis.

Know the aetiology and natural history of pertussis

Understand the effect of immunisation on presentation of clinical features.

Be able to advise parents of a child with a suspected case of pertussis.

Be able to recognise the clinical features of tuberculosis in children.

Be able to distinguish epiglottitis from other causes of upper airway obstruction

THE COMMON COLD (CORYZA)

SORE THROAT (PHARYNGITIS)

Be able to recognise the clinical features of bacterial tracheitis

Be able to provide immediate care for a choking child

Condition Pathology Prevalence Aetiology Clinical features

Take a history and examination from a child with cardiac symptoms

Be able to consider the differential diagnosis of cardiac failure

CAUSES OF HEART FAILURE

Outline the initial management of a child with cardiac failure

INNOCENT HEART MURMUR

Following CVS examination, be able to diagnose common murmurs

LEFT TO RIGHT SHUNTS

ATRIAL SEPTAL DEFECT

VENTRICULAR SEPTAL DEFECT

PERSISTENT DUCTUS ARTERIOSUS

Be aware of the association of Trisomy 21 with AVSD

Outline the presenting features clinically, on ECG and CXR of AVSD

List the key presenting features clinically, on ECG, CXR

VENTRICULAR SEPTAL DEFECT

Outline the basic medical and surgical management of VSD/ASD

VENTRICULAR SEPTAL DEFECT

PATENT DUCTUS ARTERIOSUS

COARCTATION OF THE AORTA