PAEDIATRICS - Notes

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Absence seizures

Absence seizures (petit mal) are a form of generalised epilepsy that is mostly seen in
children. The typical age of onset of 3­10 years old and girls are affected twice as
commonly as boys

Features
absences last a few seconds and are associated with a quick recovery
seizures may be provoked by hyperventilation or stress
the child is usually unaware of the seizure
they may occur many times a day
EEG: bilateral, symmetrical 3Hz spike and wave pattern

Management
sodium valproate and ethosuximide are first­line treatment
good prognosis ­ 90­95% become seizure free in adolescence
Accidents and preventive healthcare

Around 15­20% of children attend Emergency Departments in the course of a year due to an
accident. Accidents account for a third of all childhood deaths and are the single most common
cause of death in children aged between 1 ­ 15 years of age.

Key points
road traffic accidents are the most common cause of fatal accidents
boys and children from lower social classes are more likely to have an accident

Preventive healthcare

Preventive healthcare can be divided up into primary (preventing the accident/disease from
happening), secondary (prevent injury from the accident/disease) and tertiary (limit the impact of
the injury) prevention strategies

The table below gives examples of preventive healthcare strategies

Primary Secondary Tertiary


prevention prevention prevention

Stopping Wearing seat Teaching


smoking belts parents first
Stair guards Cycling aid
Speed limits* helmets
Teaching Smoke
road safety alarms
Window Laminated
safety safety glass
catches

*some strategies such as reducing driving speed may have a role in both primary and secondary
accident prevention
Achondroplasia

Achondroplasia is an autosomal dominant disorder associated with short stature. It is


caused by a mutation in the fibroblast growth factor receptor 3 (FGFR­3) gene. This
results in abnormal cartilage giving rise to:
short limbs (rhizomelia) with shortened fingers (brachydactyly)
large head with frontal bossing
midface hypoplasia with a flattened nasal bridge
'trident' hands
lumbar lordosis
Acute epiglottitis

Acute epiglottitis is rare but serious infection caused by Haemophilus influenzae type
B. Prompt recognition and treatment is essential as airway obstruction may develop.
Epiglottitis was generally considered a disease of childhood but in the UK it is now
more common in adults due to the immunisation programme. The incidence of
epiglottitis has decreased since the introduction of the Hib vaccine

Features
rapid onset
high temperature, generally unwell
stridor
drooling of saliva
Adoption in the UK

Key points
the average age of a child at adoption is around 4 years old
single people, married couples, cohabiting couples and same­sex couples can
all adopt
people wanting to adopt must be aged at least 21 years old
the child must live with the adoptive parents for 3 months before the adoption is
finalised
after this time all rights and responsibilities pass to the adoptive parents
at the age of 18 years a child who has been adopted is entitled to their original
birth certificate
ADPKD

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited
cause of kidney disease, affecting 1 in 1,000 Caucasians. Two disease loci have been
identified, PKD1 and PKD2, which code for polycystin­1 and polycystin­2 respectively

ADPKD type
ADPKD type 1 2

85% of cases 15% of cases

Chromosome 16 Chromosome
4

Presents with renal


failure earlier

The screening investigation for relatives is abdominal ultrasound:

Ultrasound diagnostic criteria (in patients with positive family history)


two cysts, unilateral or bilateral, if aged < 30 years
two cysts in both kidneys if aged 30­59 years
four cysts in both kidneys if aged > 60 years

© Image used on license from PathoPic

Extensive cysts are seen in an enlarged kidney


Alpha­thalassaemia

Alpha­thalassaemia is due to a deficiency of alpha chains in haemoglobin

Overview
2 separate alpha­globulin genes are located on each chromosome 16

Clinical severity depends on the number of alpha chains present

If 1 or 2 alpha chains are absent then the blood picture would be hypochromic and
microcytic, but the Hb level would be typically normal

Loss of 3 alpha chains results in a hypochromic microcytic anaemia with


splenomegaly. This is known as Hb H disease

If all 4 alpha chains absent (i.e. homozygote) then death in utero (hydrops fetalis,
Bart's hydrops)
Asthma in children: assessment of acute attacks

The 2014 BTS/SIGN guidelines suggest the following criteria are used to assess the severity of asthma in
general practice:

Children between 2 and 5 years of age

Life­
threatening
Moderate attack Severe attack attack

SpO2 > 92% SpO2 < 92% SpO2 <92%


No clinical Too breathless Silent chest
features of to talk or feed Poor
severe asthma Heart rate > respiratory
140/min effort
Respiratory rate Agitation
> 40/min Altered
Use of consciousness
accessory neck Cyanosis
muscles

Children greater than 5 years of age

Attempt to measure PEF in all children aged > 5 years.

Life­
Moderate threatening
attack Severe attack attack

SpO2 > SpO2 < 92% SpO2 < 92%


92% PEF 33­50% best or PEF < 33%
PEF > predicted best or
50% best Can't complete predicted
or sentences in one Silent chest
predicted breath or too breathless Poor
No clinical to talk or feed respiratory
features Heart rate > 125/min effort
of Respiratory rate > Altered
severe 30/min consciousness
asthma Use of accessory neck Cyanosis
muscles
Asthma in children: management of acute attacks

Children with severe or life threatening asthma should be transferred immediately to hospital.

Children between 2 and 5 years of age

Life­
Moderate Severe threatening
attack attack attack

SpO2 > 92% SpO2 < 92% SpO2 <92%


No clinical Too Silent chest
features of breathless to Poor
severe talk or feed respiratory
asthma Heart rate > effort
140/min Agitation
Respiratory Altered
rate > 40/min consciousness
Use of Cyanosis
accessory
neck
muscles

Children greater than 5 years of age

Attempt to measure PEF in all children aged > 5 years.

Life­
Moderate threatening
attack Severe attack attack

SpO2 > SpO2 < 92% SpO2 < 92%


92% PEF 33­50% best PEF < 33%
PEF > or predicted best or
50% best Can't complete predicted
or sentences in one Silent chest
predicted breath or too Poor
No breathless to talk respiratory
clinical or feed effort
features Heart rate > Altered
of 125/min consciousness
severe Respiratory rate Cyanosis
asthma > 30/min
Use of accessory
neck muscles

For children with mild to moderate acute asthma:

Bronchodilator therapy
give a beta­2 agonist via a spacer (for a child < 3 years use a close­fitting mask)
give 1 puff every 15­30 seconds up to a maximum of 10 puffs; repeat dose after 10­20
minutes if necessary
if symptoms are not controlled repeat beta­2 agonist and refer to hospital

Steroid therapy
should be given to all children with an asthma exacerbation
treatment should be given for 3­5 days

Usual prednisolone dose

Dose as per
Age BTS Dose as per cBNF

2­5 20 mg od 1­2 mg/kg od (max


years 40mg)

>5 30 ­ 40 mg od 1­2 mg/kg od (max


years 40mg)
Asthma in children: stepwise management

The British Thoracic Society differentiate between children younger and older than 5 years in their
2014 guidelines:

Children aged under 5 years

Step Therapy

1 As­required reliever therapy: short­acting


beta2­agonist

2 Regular preventer therapy: inhaled


corticosteroids, 200­400mcg/day*
Or, if inhaled corticosteroids cannot be
used, a leukotriene receptor antagonist

3 Children aged 2­5 years: trial of a


leukotriene receptor antagonist. If already
taking leukotriene receptor antagonist
reconsider inhaled corticosteroids

Children aged under 2 years: refer to


respiratory paediatrician

4 Refer to a respiratory paediatrician

Children aged over 5 years (similar to adult guidance)

Step Therapy

1 As­required reliever therapy: short­acting


beta2­agonist

2 Regular preventer therapy: inhaled


corticosteroids, 200­400mcg/day*

3 1. Add inhaled long­acting B2 agonist


(LABA)

2. Assess control of asthma:


good response to LABA ­ continue
LABA
benefit from LABA but control still
inadequate: continue LABA and
increase inhaled steroid dose to
400 mcg/day* (if not already on this
dose)
no response to LABA: stop LABA
and increase inhaled steroid to 400
mcg/ day.* If control still
inadequate, institute trial of other
therapies, leukotriene receptor
antagonist or SR theophylline

4 Increase inhaled corticosteroids to high­


dose, up to 800mcg/day*

5 Use daily steroid tablet at lowest dose


providing control

Maintain inhaled corticosteroids at


800mcg/day

Refer to a paediatrician

*beclometasone dipropionate or equivalent


Autism

Epidemiology
75% of children are male
usually develops before 3 years of age

All 3 of the following features must be present for a diagnosis to be made


global impairment of language and communication
impairment of social relationships
ritualistic and compulsive phenomena

Other features
most children have a decreased IQ ­ the 'idiot savant' is rare

Associated conditions
Fragile X
Rett's syndrome
Autosomal dominant

In autosomal dominant diseases:


both homozygotes and heterozygotes manifest disease (there is no carrier
state)
both males and females affected
only affected individuals can pass on disease
disease is passed on to 50% of children
normally appears in every generation (although see below)
risk remains same for each successive pregnancy

Complicating factors:
non­penetrance: lack of clinical signs and symptoms (normal phenotype)
despite abnormal gene. E.g. 40% otosclerosis
spontaneous mutation: new mutation in one of gametes e.g. 80% of individuals
with achondroplasia have unaffected parents
Autosomal dominant conditions

Autosomal recessive conditions are often thought to be 'metabolic' as opposed to


autosomal dominant conditions being 'structural', notable exceptions:
some 'metabolic' conditions such as Hunter's and G6PD are X­linked
recessive whilst others such as hyperlipidaemia type II and hypokalaemic
periodic paralysis are autosomal dominant
some 'structural' conditions such as ataxia telangiectasia and Friedreich's
ataxia are autosomal recessive

The following conditions are autosomal dominant:


Achondroplasia
Acute intermittent porphyria
Adult polycystic disease
Antithrombin III deficiency
Ehlers­Danlos syndrome
Familial adenomatous polyposis
Hereditary haemorrhagic telangiectasia
Hereditary spherocytosis
Hereditary non­polyposis colorectal carcinoma
Huntington's disease
Hyperlipidaemia type II
Hypokalaemic periodic paralysis
Malignant hyperthermia
Marfan's syndromes
Myotonic dystrophy
Neurofibromatosis
Noonan syndrome
Osteogenesis imperfecta
Peutz­Jeghers syndrome
Retinoblastoma
Romano­Ward syndrome
Tuberose sclerosis
Von Hippel­Lindau syndrome
Von Willebrand's disease*

*type 3 von Willebrand's disease (most severe form) is inherited as an autosomal


recessive trait. Around 80% of patients have type 1 disease
Autosomal recessive

In autosomal recessive inheritance


only homozygotes are affected
males and females are equally likely to be affected
not manifest in every generation ­ may 'skip a generation'

If two heterozygote parents


25% chance of having an affected (homozygote) child
50% chance of having a carrier (heterozygote) child
25% chance of having an unaffected (i.e. genotypical) child

If one affected parent (i.e. homozygote for gene) and one unaffected (i.e. not a carrier
or affected)
all the children will be carriers

Autosomal recessive disorders are often metabolic in nature and are generally more
life­threatening compared to autosomal dominant conditions
Autosomal recessive conditions

Autosomal recessive conditions are often thought to be 'metabolic' as opposed to


autosomal dominant conditions being 'structural', notable exceptions:
some 'metabolic' conditions such as Hunter's and G6PD are X­linked
recessive whilst others such as hyperlipidemia type II and hypokalemic
periodic paralysis are autosomal dominant
some 'structural' conditions such as ataxia telangiectasia and Friedreich's
ataxia are autosomal recessive

The following conditions are autosomal recessive:


Albinism
Ataxia telangiectasia
Congenital adrenal hyperplasia
Cystic fibrosis
Cystinuria
Familial Mediterranean Fever
Fanconi anaemia
Friedreich's ataxia
Gilbert's syndrome*
Glycogen storage disease
Haemochromatosis
Homocystinuria
Lipid storage disease: Tay­Sach's, Gaucher, Niemann­Pick
Mucopolysaccharidoses: Hurler's
PKU
Sickle cell anaemia
Thalassaemias
Wilson's disease

*this is still a matter of debate and many textbooks will list Gilbert's as autosomal
dominant
BCG vaccine

The Bacille Calmette­Gu�rin (BCG) vaccine offers limited protection against


tuberculosis (TB). In the UK it is given to high­risk infants. Until 2005 it was also
routinely given to children at the age of 13 years.

The Greenbook currently advises that the vaccine is administered to the following
groups (below is summary, please see the link for more details):
all infants (aged 0 to 12 months) living in areas of the UK where the annual
incidence of TB is 40/100,000 or greater
all infants (aged 0 to 12 months) with a parent or grandparent who was born in
a country where the annual incidence of TB is 40/100,000 or greater. The same
applies to older children but if they are 6 years old or older they require a
tuberculin skin test first
previously unvaccinated tuberculin­negative contacts of cases of respiratory TB
previously unvaccinated, tuberculin­negative new entrants under 16 years of
age who were born in or who have lived for a prolonged period (at least three
months) in a country with an annual TB incidence of 40/100,000 or greater
healthcare workers
prison staff
staff of care home for the elderly
those who work with homeless people

The vaccine contains live attenuated Mycobacterium bovis. It also offers limited
protection against leprosy.

Administration
any person being considered for the BCG vaccine must first be given a
tuberculin skin test. The only exceptions are children < 6 years old who have
had no contact with tuberculosis
given intradermally, normally to the lateral aspect of the left upper arm
BCG can be given at the same time as other live vaccines, but if not
administered simultaneously there should be a 4 week interval

Contraindications
previous BCG vaccination
a past history of tuberculosis
HIV
pregnancy
positive tuberculin test (Heaf or Mantoux)
Benign rolandic epilepsy

Benign rolandic epilepsy is a form of childhood epilepsy which typically occurs


between the age of 4 and 12 years.

Features
seizures characteristically occur at night
seizures are typically partial (e.g. paraesthesia affecting face) but secondary
generalisation may occur (i.e. parents may only report tonic­clonic movements)
child is otherwise normal

EEG characteristically shows centro­temporal spikes

Prognosis is excellent, with seizures stopping by adolescence


Breast feeding

Advantages Disadvantages

Transmission of
Mother drugs
bonding
involution of uterus Transmission of
protection against breast infection (e.g.
and ovarian cancer HIV)
cheap, no need to sterilise
bottle Nutrient
contraceptive effect inadequacies
(unreliable) (prolonged breast
feeding may lead
to vitamin D
Immunological
deficiency)
IgA (protects mucosal
surfaces), lysozyme
Vitamin K
(bacteriolytic enzyme) and
deficiency
lactoferrin (ensures rapid
absorption of iron so not
Breast milk
available to bacteria)
jaundice
reduced incidence of ear,
chest and gastro­intestinal
infections
reduced incidence of
eczema and asthma
reduced incidence of type 1
diabetes mellitus

Reduced incidence of sudden


infant death syndrome

Baby is in control of how much


milk it takes
Breast feeding: contraindications

The major breastfeeding contraindications tested in exams relate to drugs (see


below). Other contraindications of note include:
galactosaemia
viral infections ­ this is controversial with respect to HIV in the developing world.
This is because there is such an increased infant mortality and morbidity
associated with bottle feeding that some doctors think the benefits outweigh the
risk of HIV transmission

Drug contraindications

The following drugs can be given to mothers who are breast feeding:
antibiotics: penicillins, cephalosporins, trimethoprim
endocrine: glucocorticoids (avoid high doses), levothyroxine*
epilepsy: sodium valproate, carbamazepine
asthma: salbutamol, theophyllines
psychiatric drugs: tricyclic antidepressants, antipsychotics**
hypertension: beta­blockers, hydralazine, methyldopa
anticoagulants: warfarin, heparin
digoxin

The following drugs should be avoided:


antibiotics: ciprofloxacin, tetracycline, chloramphenicol, sulphonamides
psychiatric drugs: lithium, benzodiazepines
aspirin
carbimazole
sulphonylureas
cytotoxic drugs
amiodarone

*the BNF advises that the amount is too small to affect neonatal hypothyroidism
screening

**clozapine should be avoided


Bronchiolitis

Bronchiolitis is a condition characterised by acute bronchiolar inflammation.


Respiratory syncytial virus (RSV) is the pathogen in 75­80% of cases. SIGN released
guidelines on bronchiolitis in 2006. Please see the link for more details.

Epidemiology
most common cause of a serious lower respiratory tract infection in < 1yr olds
(90% are 1­9 months, with a peak incidence of 3­6 months). Maternal IgG
provides protection to newborns against RSV
higher incidence in winter

Basics
respiratory syncytial virus (RSV) is the pathogen in 75­80% of cases
other causes: mycoplasma, adenoviruses
may be secondary bacterial infection
more serious if bronchopulmonary dysplasia (e.g. Premature), congenital heart
disease or cystic fibrosis

Features
coryzal symptoms (including mild fever) precede:
dry cough
increasing breathlessness
wheezing, fine inspiratory crackles (not always present)
feeding difficulties associated with increasing dyspnoea are often the reason for
hospital admission

SIGN suggested the following criteria for referral to hospital


poor feeding (< 50% normal)
lethargy
apnoea
respiratory rate > 70/min
nasal flaring or grunting
severe chest wall recession
cyanosis
oxygen saturation < 94%
uncertainty regarding diagnosis

Investigation
immunofluorescence of nasopharyngeal secretions may show RSV

Management is largely supportive


humidified oxygen is given via a head box
Carbamazepine

Carbamazepine is chemically similar to the tricyclic antidepressant drugs. It is most


commonly used in the treatment of epilepsy, particularly partial seizures, where
carbamazepine remains a first­line medication. Other uses include
neuropathic pain (e.g. trigeminal neuralgia, diabetic neuropathy)
bipolar disorder

Mechanism of action
binds to sodium channels increases their refractory period

Adverse effects
P450 enzyme inducer
dizziness and ataxia
drowsiness
headache
visual disturbances (especially diplopia)
Steven­Johnson syndrome
leucopenia and agranulocytosis
syndrome of inappropriate ADH secretion
Cerebral palsy

Cerebral palsy may be defined as a disorder of movement and posture due to a non­
progressive lesion of the motor pathways in the developing brain. It affects 2 in 1,000
live births and is the most common cause of major motor impairment

Possible manifestations include:


abnormal tone early infancy
delayed motor milestones
abnormal gait
feeding difficulties

Children with cerebral palsy often have associated non­motor problems such as:
learning difficulties (60%)
epilepsy (30%)
squints (30%)
hearing impairment (20%)

Causes
antenatal (80%): e.g. cerebral malformation and congenital infection (rubella,
toxoplasmosis, CMV)
intrapartum (10%): birth asphyxia/trauma
postnatal (10%): intraventricular haemorrhage, meningitis, head­trauma

Classification
spastic (70%): hemiplegia, diplegia or quadriplegia
dyskinetic
ataxic
mixed

Management
as with any child with a chronic condition a multidisciplinary approach is needed
treatments for spasticity include oral diazepam, oral and intrathecal baclofen,
botulinum toxin type A, orthopaedic surgery and selective dorsal rhizotomy
anticonvulsants, analgesia as required
Chickenpox

Chickenpox is caused by primary infection with varicella zoster virus. Shingles is


reactivation of dormant virus in dorsal root ganglion

Chickenpox is highly infectious


spread via the respiratory route
can be caught from someone with shingles
infectivity = 4 days before rash, until 5 days after the rash first appeared*
incubation period = 10­21 days

Clinical features (tend to be more severe in older children/adults)


fever initially
itchy, rash starting on head/trunk before spreading. Initially macular then
papular then vesicular
systemic upset is usually mild

Management is supportive
keep cool, trim nails
calamine lotion
school exclusion: current HPA advice is 5 days from start of skin eruption. They
also state 'Traditionally children have been excluded until all lesions are
crusted. However, transmission has never been reported beyond the fifth day of
the rash.'
immunocompromised patients and newborns with peripartum exposure should
receive varicella zoster immunoglobulin (VZIG). If chickenpox develops then IV
aciclovir should be considered

A common complication is secondary bacterial infection of the lesions. Rare


complications include
pneumonia
encephalitis (cerebellar involvement may be seen)
disseminated haemorrhagic chickenpox
arthritis, nephritis and pancreatitis may very rarely be seen
© Image used on license from Radiopaedia

Chest x­ray showing miliary opacities secondary to healed varicella


pneumonia. Multiple tiny calcific miliary opacities noted throughout both
lungs. These are of uniform size and dense suggesting calcification.
There is no focal lung parenchymal mass or cavitating lesion seen.The
appearances are characteristic for healed varicella pneumonia.

*it was traditionally taught that patients were infective until all lesions had scabbed
over
Chickenpox exposure in pregnancy

Chickenpox is caused by primary infection with varicella zoster virus. Shingles is


reactivation of dormant virus in dorsal root ganglion. In pregnancy there is a risk to
both the mother and also the fetus, a syndrome now termed fetal varicella syndrome

Risks to the mother


5 times greater risk of pneumonitis

Fetal varicella syndrome (FVS)


risk of FVS following maternal varicella exposure is around 1% if occurs before
20 weeks gestation
studies have shown a very small number of cases occurring between 20­28
weeks gestation and none following 28 weeks
features of FVS include skin scarring, eye defects (microphthalmia), limb
hypoplasia, microcephaly and learning disabilities

Other risks to the fetus


shingles in infancy: 1­2% risk if maternal exposure in the second or third
trimester
severe neonatal varicella: if mother develops rash between 5 days before and 2
days after birth there is a risk of neonatal varicella, which may be fatal to the
newborn child in around 20% of cases

Management of chickenpox exposure


if there is any doubt about the mother previously having chickenpox maternal
blood should be urgently checked for varicella antibodies
if the pregnant women is not immune to varicella she should be given varicella
zoster immunoglobulin (VZIG) as soon as possible. RCOG and Greenbook
guidelines suggest VZIG is effective up to 10 days post exposure
consensus guidelines suggest oral aciclovir should be given if pregnant women
with chickenpox present within 24 hours of onset of the rash
Child abuse: NICE guidelines

NICE published guidelines on when to suspect child maltreatment in 2009. Remember child abuse may
include physical, emotional and sexual abuse, neglect and fabricated or induced illness.

In the guidelines there are a large number of features listed which should raise the suspicion of abuse. The
full list has notbeen replicated here (please use the link provided) ­ we have only picked selected features.

Neglect

Features where you Features where you


should consider abuse should suspect abuse

Severe and persistent Failure to seek medical


infestations (e.g. Scabies advice which
or head lice) compromises the child's
Parents who do not health
administer essential Child who is persistently
prescribed treatment smelly and dirty
Parents who persistently Repeat observations that:
fail to obtain treatment poor standards of
for tooth decay hygiene that affects
Parents who repeatedly the child's health
fail to attend essential inadequate
follow­up appointments provision of food
Parents who persistently living environment
fail to engage with child that is unsafe for the
health promotion child's development
Failure to dress the child stage
in suitable clothing
Animal bite on an
inadequately supervised
child

Sexual abuse

Features where you


should consider Features where you should
abuse suspect abuse

Persistent dysuria or Persistent or recurrent genital


anogenital or anal symptoms associated
discomfort without a with a behavioural or
medical explanation emotional change
Gaping anus in a Anal fissure when
child during constipation and Crohn's
examination without disease have been excluded
a medical as the cause
explanation STI in a child younger than 12
Pregnancy in a years (where there is no
young women aged evidence of vertical or blood
13­15 years transmission
Hepatitis B or Sexualised behaviour in a
anogenital warts in a prepubertal child
child 13­15 years

Physical abuse

Features where
you should Features where you should
consider abuse suspect abuse

Any serious or Bruising, lacerations or burns in a


unusual injury child who is not independently
with an absent or mobile or where there is an
unsuitable absent or unsuitable explanation
explanation Human bite mark not by a young
Cold injuries in a child
child with no One or more fractures if there is
medical an unsuitable explanation,
explanation including:
Hypothermia in a fractures of different ages
child without a X­ray evidence of occult
suitable fractures
explanation
Retinal haemorrhages with no
Oral injury in a
adequate explanation
child with an
absent or suitable
explanation
Child abuse: presentation

Children may disclose abuse themselves. Other factors which point towards child
abuse include:
story inconsistent with injuries
repeated attendances at A&E departments
late presentation
child with a frightened, withdrawn appearance ­ 'frozen watchfulness'

Possible physical presentations of child abuse include:


bruising
fractures: particularly metaphyseal, posterior rib fractures or multiple fractures
at different stages of healing
torn frenulum: e.g. from forcing a bottle into a child's mouth
burns or scalds
failure to thrive
sexually transmitted infections e.g.Chlamydia, Gonorrhoea, Trichomonas
Child health surveillance

The following table gives a basic outline of child health surveillance in the UK

Ensure intrauterine growth


Check for maternal infections e.g. HIV
Ultrasound scan for fetal
abnormalities
Antenatal Blood tests for Neural Tube Defects

Newborn Clinical examination of newborn


Newborn Hearing Screening Programme
e.g. oto­acoustic emissions test
Give mother Personal Child Health
Record

First Heel­prick test day 5­9 ­ hypothyroidism,


month PKU, metabolic diseases, cystic fibrosis,
medium­chain acyl Co­A dehydrogenase
deficiency (MCADD)
Midwife visit up to 4 weeks*

Following Health visitor input


months GP examination at 6­8 weeks
Routine immunisations

Pre National orthoptist­led programme for


school pre­school vision screening to be
introduced

Ongoing Monitoring of growth, vision, hearing


Health professionals advice on
immunisations, diet, accident prevention

*this doesn't seem to happen in practice with health visitors usually taking over at 2 weeks
Child health surveillance: the 6 week check

The '6 week check' is usually carried out at 6­8 weeks of age

Baby's health

General physical examination


particular emphasis on eyes (cataracts), heart, hips and testes
measure weight and head circumference
developmental assessment

Health promotion
immunisation
feeding
sleeping position
passive smoking
car safety and injury prevention

Maternal health

Identification of postnatal depression


Childhood infections

The table below summarises the main characteristics of childhood infections

Infection Features

Chickenpox Fever initially


Itchy, rash starting on head/trunk
before spreading. Initially macular
then papular then vesicular
Systemic upset is usually mild

Measles Prodrome: irritable, conjunctivitis,


fever
Koplik spots: white spots ('grain of
salt') on buccal mucosa
Rash: starts behind ears then to whole
body, discrete maculopapular rash
becoming blotchy & confluent

Mumps Fever, malaise, muscular pain


Parotitis ('earache', 'pain on eating'):
unilateral initially then becomes
bilateral in 70%

Rubella Rash: pink maculopapular, initially on


face before spreading to whole body,
usually fades by the 3­5 day
Lymphadenopathy: suboccipital and
postauricular

Erythema Also known as fifth disease or


infectiosum 'slapped­cheek syndrome'
Caused by parvovirus B19
Lethargy, fever, headache
'Slapped­cheek' rash spreading to
proximal arms and extensor surfaces

Scarlet Reaction to erythrogenic toxins


fever produced by Group A haemolytic
streptococci
Fever, malaise, tonsillitis
'Strawberry' tongue
Rash ­ fine punctate erythema sparing
face
Hand, foot Caused by the coxsackie A16 virus
and mouth Mild systemic upset: sore throat, fever
disease Vesicles in the mouth and on the
palms and soles of the feet
Childhood syndromes

Below is a list of common features of selected childhood syndromes

Syndrome Key features

Patau Microcephalic, small eyes


syndrome Cleft lip/palate
(trisomy 13) Polydactyly
Scalp lesions

Edward's Micrognathia
syndrome Low­set ears
(trisomy 18) Rocker bottom feet
Overlapping of fingers

Fragile X Learning difficulties


Macrocephaly
Long face
Large ears
Macro­orchidism

Noonan Webbed neck


syndrome Pectus excavatum
Short stature
Pulmonary stenosis

Pierre­Robin Micrognathia
syndrome* Posterior displacement of the tongue
(may result in upper airway
obstruction)
Cleft palate

Prader­Willi Hypotonia
syndrome Hypogonadism
Obesity

William's Short stature


syndrome Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis

*this condition has many similarities with Treacher­Collins syndrome. One of the key differences is that
Treacher­Collins syndrome is autosomal dominant so there is usually a family history of similar problems
Cleft lip and palate

Cleft lip and palate affect around 1 in every 1,000 babies.

Pathophysiology
polygenic inheritance
maternal antiepileptic use increases risk
cleft lip results from failure of the fronto­nasal and maxillary processes to fuse
cleft palate results from failure of the palatine processes and the nasal septum
to fuse

Problems
feeding: orthodontic devices may be helpful
speech: with speech therapy 75% of children develop normal speech
increased risk of otitis media for cleft palate babies

Management
cleft lip is repaired earlier than cleft palate, with practices varying from repair in
the first week of life to three months
cleft palates are typically repaired between 6­12 months of age
Codeine

The July 2013 issue of the Drug Safety Update carried a warning on the use of
codeine in children due to reports of morphine toxicity.

You may have been aware for a while that adult patients can react very differently to
codeine, for example when given in the co­codamol formulation. One of the main
reasons for this is the CY62D6 component of the P450 enzyme system. Genetic
variations of CY62D6 affect the rate at which codeine is converted to morphine.
Therefore some patients are likely to be very 'sensitive' to the effects of codeine. A
review has found that a number of paediatric patients have had serious events linked
to the use of codeine. It seems patients from the southern European countries, the
Middle East and Africa have a higher incidence of rapid codeine metabolism than
northern Europeans.

Most of the paediatric adverse events have involved respiratory depression and
children with a history of obstructive sleep apnoea (e.g. secondary to enlarged
tonsils/adenoids) seem particularly at risk.

The MHRA now advise that codeine should only be used in children > 12 years of age
for pain that is not controlled by paracetamol or ibuprofen.

It also advises that codeine should not be used by breastfeeding mothers due to the
potential effects of morphine toxicity on the baby.
Congenital heart disease: types

Acyanotic ­ most common causes


ventricular septal defects (VSD) ­ most common, accounts for 30%
atrial septal defect (ASD)
patent ductus arteriosus (PDA)
coarctation of the aorta
aortic valve stenosis

VSDs are more common than ASDs. However, in adult patients ASDs are the more
common new diagnosis as they generally presents later

Cyanotic ­ most common causes


tetralogy of Fallot
transposition of the great arteries (TGA)
tricuspid atresia
pulmonary valve stenosis

Fallot's is more common than TGA. However, at birth TGA is the more common lesion
as patients with Fallot's generally presenting at around 1­2 months
Congenital infections

The major congenital infections encountered in examinations are rubella, toxoplasmosis and
cytomegalovirus

Cytomegalovirus is the most common congenital infection in the UK. Maternal infection is usually
asymptomatic

Rubella Toxoplasmosis Cytomegalovirus

Characteristic Sensorineural Cerebral calcification Growth retardation


features deafness Chorioretinitis Purpuric skin lesions
Congenital cataracts Hydrocephalus
Congenital heart
disease (e.g. patent
ductus arteriosus)
Glaucoma

Other Growth retardation Anaemia Sensorineural


features Hepatosplenomegaly Hepatosplenomegaly deafness
Purpuric skin lesions Cerebral palsy Encephalitis/seizures
'Salt and pepper' Pneumonitis
chorioretinitis Hepatosplenomegaly
Microphthalmia Anaemia
Cerebral palsy Jaundice
Cerebral palsy
Constipation in children

The frequency at which children open their bowels varies widely, but generally decreases with age from a
mean of 3 times per day for infants under 6 months old to once a day after 3 years of age.

NICE produced guidelines in 2010 on the diagnosis and management of constipation in children. A diagnosis
of constipation is suggested by 2 or more of the following:

Child > 1
Child < 1 year year

Stool Fewer than 3 complete Fewer than 3


pattern stools per week (type 3 complete
or 4 on Bristol Stool stools per
Form Scale) (this does week (type 3
not apply to exclusively or 4)
breastfed babies after 6 Overflow
weeks soiling
of age) (commonly
Hard large stool very loose,
'Rabbit droppings' (type very smelly,
1) stool passed
without
sensation)
'Rabbit
droppings'
(type 1)
Large,
infrequent
stools that
can block
the toilet

Symptoms Distress on passing Poor


associated stool appetite that
with Bleeding associated improves
defecation with hard stool with passage
Straining of large stool
Waxing and
waning of
abdominal
pain with
passage of
stool
Evidence of
retentive
posturing:
typical
straight
legged,
tiptoed, back
arching
posture
Straining
Anal pain

History Previous episode(s) of Previous


constipation episode(s) of
Previous or current anal constipation
fissure Previous or
current anal
fissure
Painful
bowel
movements
and bleeding
associated
with hard
stools

The vast majority of children have no identifiable cause ­ idiopathic constipation. Other causes of
constipation in children include:
dehydration
low­fibre diet
medications: e.g. Opiates
anal fissure
over­enthusiastic potty training
hypothyroidism
Hirschsprung's disease
hypercalcaemia
learning disabilities

After making a diagnosis of constipation NICE then suggesting excluding secondary causes. If no red or
amber flags are present then a diagnosis of idiopathic constipation can be made:

'Red flag'
Indicates suggesting
idiopathic underlying
constipation disorder

Timing Starts after a few Reported


weeks of life from birth or
Obvious first few
precipitating weeks of life
factors
coinciding with
the start of
symptoms:
fissure, change
of diet, timing of
potty/toilet
training or acute
events such as
infections,
moving house,
starting
nursery/school,
fears and
phobias, major
change in family,
taking medicines

Passage of < 48 hours > 48 hours


meconium

Stool pattern 'Ribbon'


stools

Growth Generally well, Faltering


weight and growth is
height within anamber flag
normal limits, fit
and active

Neuro/locomotor No neurological Previously


problems in legs, unknown or
normal undiagnosed
locomotor weakness in
development legs,
locomotor
delay

Abdomen Distension

Diet Changes in
infant formula,
weaning,
insufficient fluid
intake or poor
diet

Other Amber flag:


Disclosure or
evidence that
raises
concerns
over
possibility of
child
maltreatment

Prior to starting treatment the child needs to be assessed for faecal impaction. Factors which suggest faecal
impaction include:
symptoms of severe constipation
overflow soiling
faecal mass palpable in abdomen (digital rectal examination should only be carried out by a specialist)

NICE guidelines on management

If faecal impaction is present


polyethylene glycol 3350 + electrolytes (Movicol Paediatric Plain) using an escalating dose regimen as
the first­line treatment
add a stimulant laxative if Movicol Paediatric Plain does not lead to disimpaction after 2 weeks
substitute a stimulant laxative singly or in combination with an osmotic laxative such as lactulose if
Movicol Paediatric Plain is not tolerated
inform families that disimpaction treatment can initially increase symptoms of soiling and abdominal
pain

Maintenance therapy
very similar to the above regime, with obvious adjustments to the starting dose, i.e.
first­line: Movicol Paediatric Plain
add a stimulant laxative if no response
substitute a stimulant laxative if Movicol Paediatric Plain is not tolerated. Add another laxative such as
lactulose or docusate if stools are hard
continue medication at maintenance dose for several weeks after regular bowel habit is established,
then reduce dose gradually

General points
do not use dietary interventions alone as first­line treatment although ensure child is having adequate
fluid and fibre intake
consider regular toileting and non­punitive behavioural interventions
for all children consider asking the Health Visitor or Paediatric Continence Advisor to help support the
parents.

The NICE guidelines do not specifically discuss the management of very young child. The following
recommendations are largely based on the old Clinical Knowledge Summaries recommendations.

Infants not yet weaned (usually < 6 months)


bottle­fed infants: give extra water in between feeds. Try gentle abdominal massage and bicycling the
infant's legs
breast­fed infants: constipation is unusual and organic causes should be considered

Infants who have or are being weaned


offer extra water, diluted fruit juice and fruits
if not effective consider adding lactulose
Cow's milk protein intolerance/allergy

Cow's milk protein intolerance/allergy (CMPI/CMPA) occurs in around 3­6% of all


children and typically presents in the first 3 months of life in formula fed infants,
although rarely it is seen in exclusively breastfed infants.

Both immediate (IgE mediated) and delayed (non­IgE mediated) reactions are seen.
The term CMPA is usually used for immediate reactions and CMPI for mild­moderate
delayed reactions.

Features
regurgitation and vomiting
diarrhoea
urticaria, atopic eczema
'colic' symptoms: irritability, crying
wheeze, chronic cough
rarely angioedema and anaphylaxis may occur

Diagnosis is often clinical (e.g. improvement with cow's milk protein elimination).
Investigations include:
skin prick/patch testing
total IgE and specific IgE (RAST) for cow's milk protein

Management

If the symptoms are severe (e.g. failure to thrive) refer to a paediatrician.

Management if formula­fed
extensive hydrolysed formula (eHF) milk is the first­line replacement formula for
infants with mild­moderate symptoms
amino acid­based formula (AAF) in infants with severe CMPA or if no response
to eHF
around 10% of infants are also intolerant to soya milk

Management if breast­fed
continue breastfeeding
eliminate cow's milk protein from maternal diet
use eHF milk when breastfeeding stops, until 12 months of age and at least for
6 months

CMPI usually resolves by 1­2 years of age. A challenge is often performed in the
hospital setting as anaphylaxis can occur.
Croup

Croup is a form of upper respiratory tract infection seen in infants and toddlers. It is characterised by stridor
which is caused by a combination of laryngeal oedema and secretions. Parainfluenza viruses account for the
majority of cases.

Epidemiology
peak incidence at 6 months ­ 3 years
more common in autumn

Features
stridor
barking cough (worse at night)
fever
coryzal symptoms

Clinical Knowledge Summaries (CKS) suggest using the following criteria to grade the severity*:

Mild Moderate Severe

Occasional Frequent Frequent barking


barking barking cough cough
cough Easily audible Prominent
No audible stridor at rest inspiratory (and
stridor at rest Suprasternal occasionally,
No or mild and sternal expiratory) stridor at
suprasternal wall retraction rest
and/or at rest Marked sternal wall
intercostal No or little retractions
recession distress or Significant distress
The child is agitation and agitation, or
happy and is The child can lethargy or
prepared to be placated restlessness (a sign
eat, drink, and is of hypoxaemia)
and play interested in Tachycardia occurs
its with more severe
surroundings obstructive
symptoms and
hypoxaemia

CKS suggest admitting any child with moderate or severe croup. Other features which should prompt
admission include:
< 6 months of age
known upper airway abnormalities (e.g. Laryngomalacia, Down's syndrome)
uncertainty about diagnosis (important differentials include acute epiglottitis, bacterial tracheitis,
peritonsillar abscess and foreign body inhalation)

Management
CKS recommend giving a single dose of oral dexamethasone (0.15mg/kg) to all children regardless of
severity
prednisolone is an alternative if dexamethasone is not available

Emergency treatment
high­flow oxygen
nebulised adrenaline

*these in turn are based partly on the Alberta Medical Association (2008) Guideline for the diagnosis and
management of croup.
Cystic fibrosis

Cystic fibrosis (CF) is an autosomal recessive disorder causing increased viscosity of


secretions (e.g. lungs and pancreas). It is due to a defect in the cystic fibrosis
transmembrane conductance regulator gene (CFTR), which codes a cAMP­regulated
chloride channel

In the UK 80% of CF cases are due to delta F508 on the long arm of chromosome 7.
Cystic fibrosis affects 1 per 2500 births, and the carrier rate is c. 1 in 25

Organisms which may colonise CF patients


Staphylococcus aureus
Pseudomonas aeruginosa
Burkholderia cepacia*
Aspergillus

*previously known as Pseudomonas cepacia


Cystic fibrosis: features

Presenting features
neonatal period (around 20%): meconium ileus, less commonly prolonged
jaundice
recurrent chest infections (40%)
malabsorption (30%): steatorrhoea, failure to thrive
other features (10%): liver disease

Other features of cystic fibrosis


short stature
diabetes mellitus
delayed puberty
rectal prolapse (due to bulky stools)
nasal polyps
male infertility, female subfertility
Cystic fibrosis: management

Management of cystic fibrosis involves a multidisciplinary approach

Key points
regular (at least twice daily) chest physiotherapy and postural drainage. Parents
are usually taught to do this. Deep breathing exercises are also useful
high calorie diet, including high fat intake*
vitamin supplementation
pancreatic enzyme supplements taken with meals
heart and lung transplant

*this is now the standard recommendation ­ previously high calorie, low­fat diets have
been recommended to reduce the amount of steatorrhoea
Development problems

Referral points
doesn't smile at 10 weeks
cannot sit unsupported at 12 months
cannot walk at 18 months

Fine motor skill problems


hand preference before 12 months is abnormal and may indicate cerebral palsy

Gross motor problems


most common causes of problems: variant of normal, cerebral palsy and
neuromuscular disorders (e.g. Duchenne muscular dystrophy)

Speech and language problems


always check hearing
other causes include environmental deprivation and general development delay
Developmental milestones: fine motor and vision

The tables below summarises the major fine motor and vision developmental milestones

Age Milestone

3 Reaches for object


months Holds rattle briefly if given to hand
Visually alert, particularly human faces
Fixes and follows to 180 degrees

6 Holds in palmar grasp


months Pass objects from one hand to another
Visually insatiable, looking around in every
direction

9 Points with finger


months Early pincer

12 Good pincer grip


months Bangs toys together

Bricks

Age Milestone

15 months Tower of 2

18 months Tower of 3

2 years Tower of 6

3 years Tower of 9
Drawing

Age Milestone

18 months Circular scribble

2 years Copies vertical line

3 years Copies circle

4 years Copies cross

5 years Copies square and triangle

Book

Age Milestone

15 months Looks at book, pats page

18 months Turns pages, several at time

2 years Turns pages, one at time

Notes
hand preference before 12 months is abnormal and may indicate cerebral palsy
Developmental milestones: gross motor

The table below summarises the major gross motor developmental milestones

Age Milestone

3 months Little or no head lag on being pulled to


sit
Lying on abdomen, good head control
Held sitting, lumbar curve

6 months Lying on abdomen, arms extended


Lying on back, lifts and grasps feet
Pulls self to sitting
Held sitting, back straight
Rolls front to back

7­8 Sits without support (Refer at 12


months months)

9 months Pulls to standing


Crawls

12 months Cruises
Walks with one hand held

13­15 Walks unsupported (Refer at 18


months months)

18 months Squats to pick up a toy

2 years Runs
Walks upstairs and downstairs holding
on to rail

3 years Rides a tricycle using pedals


Walks up stairs without holding on to
rail

4 years Hops on one leg

Notes
the majority of children crawl on all fours before walking but some children 'bottom­shuffle'. This is a
normal variant and runs in families
Developmental milestones: social behaviour and play

The table below summarises the major social behaviour and play milestones

Age Milestone

6 weeks Smiles (Refer at 10 weeks)

3 months Laughs
Enjoys friendly handling

6 months Not shy

9 months Shy
Takes everything to mouth

Feeding

Age Milestone

May put hand on bottle when being fed 6 months

Drinks from cup + uses spoon, develops 12 ­15


over 3 month period months

Competent with spoon, doesn't spill with 2 years


cup

Uses spoon and fork 3 years

Uses knife and fork 5 years

Dressing

Age Milestone

Helps getting dressed/undressed 12­15


months

Takes off shoes, hat but unable to 18


replace months

Puts on hat and shoes 2 years

Can dress and undress independently 4 years


except for laces and buttons
Play

Age Milestone

Plays 'peek­a­boo' 9 months

Waves 'bye­bye' 12 months


Plays 'pat­a­cake'

Plays contentedly alone 18 months

Plays near others, not with them 2 years

Plays with other children 4 years


Developmental milestones: speech and hearing

The table below summarises the major speech and hearing developmental milestones

Age Milestone

3 months Quietens to parents voice


Turns towards sound
Squeals

6 months Double syllables 'adah', 'erleh'

9 months Says 'mama' and 'dada'


Understands 'no'

12 months Knows and responds to own name

12­15 Knows about 2­6 words (Refer at 18


months months)
Understands simple commands ­ 'give it
to mummy'

2 years Combine two words


Points to parts of the body

2� years Vocabulary of 200 words

3 years Talks in short sentences (e.g. 3­5 words)


Asks 'what' and 'who' questions
Identifies colours
Counts to 10 (little appreciation of
numbers though)

4 years Asks 'why', 'when' and 'how' questions


Diarrhoea and vomiting in children

Diarrhoea and vomiting is very common in younger children. The most common cause of gastroenteritis in
children in the UK is rotavirus. Much of the following is based around the 2009 NICE guidelines (please see
the link for more details).

Clinical features

NICE suggest that typically:


diarrhoea usually lasts for 5­7 days and stops within 2 weeks
vomiting usually lasts for 1­2 days and stops within 3 days

When assessing hydration status NICE advocate using normal, dehydrated or shocked categories rather
than the traditional normal, mild, moderate or severe categories.

Clinical dehydration Clinical shock

Appears to be unwell or Decreased level of


deteriorating consciousness
Decreased urine output
Skin colour unchanged Cold extremities
Warm extremities
Altered responsiveness (for Pale or mottled
example, irritable, lethargic) skin

Sunken eyes
Dry mucous membranes
Tachycardia
Tachypnoea Tachycardia
Normal peripheral pulses Tachypnoea
Normal capillary refill time Weak peripheral
Reduced skin turgor pulses
Normal blood pressure Prolonged capillary
refill time
Hypotension

The following children are at an increased risk of dehydration:


children younger than 1 year, especially those younger than 6 months
infants who were of low birth weight
children who have passed six or more diarrhoeal stools in the past 24 hours
children who have vomited three times or more in the past 24 hours
children who have not been offered or have not been able to tolerate supplementary fluids before
presentation
infants who have stopped breastfeeding during the illness
children with signs of malnutrition
Features suggestive of hypernatraemic dehydration:
jittery movements
increased muscle tone
hyperreflexia
convulsions
drowsiness or coma

Diagnosis

NICE suggest doing a stool culture in the following situations:


you suspect septicaemia or
there is blood and/or mucus in the stool or
the child is immunocompromised

You should consider doing a stool culture if:


the child has recently been abroad or
the diarrhoea has not improved by day 7 or
you are uncertain about the diagnosis of gastroenteritis

Management

If clinical shock is suspected children should be admitted for intravenous rehydration.

For children with no evidence of dehydration


continue breastfeeding and other milk feeds
encourage fluid intake
discourage fruit juices and carbonated drinks

If dehydration is suspected:
give 50 ml/kg low osmolarity oral rehydration solution (ORS) solution over 4 hours, plus ORS solution
for maintenance, often and in small amounts
continue breastfeeding
consider supplementing with usual fluids (including milk feeds or water, but not fruit juices or
carbonated drinks)
Diphtheria

Diphtheria is caused by the Gram positive bacterium Corynebacterium diphtheriae

Pathophysiology
releases an exotoxin encoded by a β­prophage
exotoxin inhibits protein synthesis by catalyzing ADP­ribosylation of elongation
factor EF­2

Diphtheria toxin commonly causes a 'diphtheric membrane' on tonsils caused by


necrotic mucosal cells. Systemic distribution may produce necrosis of myocardial,
neural and renal tissue

Possible presentations
recent visitors to Eastern Europe/Russia/Asia
sore throat with a 'diphtheric membrane' ­ see above
bulky cervical lymphadenopathy
neuritis e.g. cranial nerves
heart block
Down syndrome: features

Clinical features
face: upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris,
protruding tongue, small ears, round/flat face
flat occiput
single palmar crease, pronounced 'sandal gap' between big and first toe
hypotonia
congenital heart defects (40­50%, see below)
duodenal atresia
Hirschsprung's disease

Cardiac complications
multiple cardiac problems may be present
endocardial cushion defect (c. 40%, also known as atrioventricular septal canal
defects)
ventricular septal defect (c. 30%)
secundum atrial septal defect (c. 10%)
tetralogy of Fallot (c. 5%)
isolated patent ductus arteriosus (c. 5%)

Later complications
subfertility: males are almost always infertile due to impaired spermatogenesis.
Females are usually subfertile, and have an increased incidence of problems
with pregnancy and labour
learning difficulties
short stature
repeated respiratory infections (+hearing impairment from glue ear)
acute lymphoblastic leukaemia
hypothyroidism
Alzheimer's
atlantoaxial instability
Down's syndrome: epidemiology and genetics

Risk of Down's syndrome with increasing maternal age

Age (years) Risk

20 1 in 1,500

30 1 in 800

35 1 in 270

40 1 in 100

45 1 in 50 or greater

One way of remembering this is by starting at 1/1,000 at 30 years and then dividing the
denominator by 3 (i.e. 3 times more common) for every extra 5 years of age

Cytogenetics

% of
Mode cases Risk of recurrence

Non­ 94% 1 in 100 if under


disjunction mother < 35 years

Robertsonian 5% 10­15% if mother is


translocation translocation carrier
(usually onto 2.5% if father is
14) translocation carrier

Mosaicism 1%

The chance of a further child with Down's syndrome is approximately 1 in 100 if the mother is
less than 35 years old. If the trisomy 21 is a result of a translocation the risk is much higher
Down's syndrome: vision and hearing problems

Individuals with Down's syndrome are more likely to suffer from vision and hearing
problems, as detailed below:

Vision
refractive errors are more common
strabismus: seen in around 20­40%
cataracts: congenital and acquired are both more common
recurrent blepharitis
glaucoma

Hearing
otitis media and glue ear are very common resulting in hearing problems
Drug dose calculations

Questions requiring you to calculate drug doses are increasingly common due to
concerns about the frequency of prescription errors. There have been several high
profile cases where such calculations have been incorrect by a factor of 10 resulting in
serious patient harm.

Whilst the calculations themselves are relatively simple it easy to make a mistake.

Many calculations involve drugs given either as solutions or infusions. These require
you first to work out the correct dose for the patients weight, e.g.

Paracetamol for a child: 20mg/kg, every 6­8 hours

The child weighs 18kg therefore 18 * 20 = 360mg.

Paracetamol oral suspension is available as 120mg/5ml

Therefore we divide 360 by the 'top' figure ­ 120 = 3 and times this by the 'bottom'
figure ­ 5

i.e. 360mg / 120mg = 3 * 5ml = 15 ml of paracetamol oral suspension 120mg/5ml


should be given every 6­8 hours
Epstein's pearl

A congenital cyst found in the mouth. They are common on the hard palate, but may
also be seen on the gums where the parents may mistake it for an erupting tooth. No
treatment is generally required as they tend to spontaneously resolve over the course
of a few weeks.
Febrile convulsions

Febrile convulsions are seizures provoked by fever in otherwise normal children. They
typically occur between the ages of 6 months and 5 years and are seen in 3% of
children

Clinical features
usually occur early in a viral infection as the temperature rises rapidly
seizures are usually brief, lasting less than 5 minutes
may be generalised tonic or tonic­clonic

Prognosis
risk of further febrile convulsion = 1/3 (higher if family history)
if recurrences, try teaching mother how to use rectal diazepam
if no focal signs + lasts less than 30 minutes* + single seizure then 1% risk of
developing epilepsy
in the <1% who have all these features, risk of developing epilepsy is much
higher (e.g. 50%)

*minutes not seconds, although some authorities use a cut­off of 15 minutes


Feverish illness in children

The 2007 NICE Feverish illness in children guidelines introduced a 'traffic light' system
for risk stratification of children under the age of 5 years presenting with a fever. These
guidelines were later modified in a 2013 update.

It should be noted that these guidelines only apply 'until a clinical diagnosis of the
underlying condition has been made'. A link to the guidelines is provided but some key
points are listed below.

Assessment

The following should be recorded in all febrile children:


temperature
heart rate
respiratory rate
capillary refill time

Signs of dehydration (reduced skin turgor, cool extremities etc) should also be looked
for

Measuring temperature should be done with an electronic thermometer in the axilla if


the child is < 4 weeks or with an electronic/chemical dot thermometer in the axilla or an
infra­red tympanic thermometer.

Risk stratification

Please see the link for the complete table, below is a modified version

Green ­ low Amber ­


risk intermediate risk Red ­ high risk

Colour • Normal • Pallor reported by •


colour parent/carer Pale/mottled/ashen/blue

Activity • Responds • Not responding • No response to social


normally to normally to social cues
social cues cues • Appears ill to a
• • No smile healthcare professional
Content/smiles • Wakes only with • Does not wake or if
• Stays awake prolonged roused does not stay
or awakens stimulation awake
quickly • Decreased activity • Weak, high­pitched or
• Strong continuous cry
normal cry/not
crying

Respiratory • Nasal flaring • Grunting


• Tachypnoea: • Tachypnoea:
respiratory rate respiratory rate >60
>50 breaths/minute
breaths/minute, • Moderate or severe
age 6­12 chest indrawing
months;
>40
breaths/minute,
age >12
months
• Oxygen saturation
<=95% in air
• Crackles in the
chest

Circulation • Normal skin • Tachycardia: • Reduced skin turgor


and and eyes >160
hydration • Moist beats/minute,
mucous age <12
membranes months
>150
beats/minute,
age 12­24
months
>140
beats/minute,
age 2­5 years
• Capillary refill time
>=3 seconds
• Dry mucous
membranes
• Poor feeding in
infants
• Reduced urine
output

Other No amber or • Age 3­6 months, • Age <3 months,


red signs temperature temperature • >=38�C
>=39�C • Non­blanching rash
• Fever for >=5 days • Bulging fontanelle
• Rigors • Neck stiffness
• Swelling of a limb • Status epilepticus
or joint • Focal neurological
• Non­weight bearing signs
limb/not using an • Focal seizures
extremity
Management

If green:
Child can be managed at home with appropriate care advice, including when to
seek further help

If amber:
provide parents with a safety net or refer to a paediatric specialist for further
assessment
a safety net includes verbal or written information on warning symptoms and how
further healthcare can be accessed, a follow­up appointment, liaison with other
healthcare professionals, e.g. out­of­hours providers, for further follow­up

If red:
refer child urgently to a paediatric specialist

Other key points include


oral antibiotics should not be prescribed to children with fever without apparent
source
if a pneumonia is suspected but the child is not going to be referred to hospital
then a chest x­ray does not need to be routinely performed
Food allergy in children and young people

The 2011 NICE guidelines differentiate between IgE mediated and non­IgE mediated allergies. It should be
noted that the guidance does not govern food intolerance, which is not caused by immune system
dysfunction.

The first step is to identify possible food allergy and differentiate the possible causes:

IgE­mediated Non­IgE­mediated

Skin Skin
pruritus pruritus
erythema erythema
urticaria atopic eczema
angioedema

Gastrointestinal system
Gastrointestinal system gastro­
nausea ​ oesophageal reflux
colicky abdominal disease
pain ​ loose or frequent

vomiting ​ stools
diarrhoea blood and/or
mucus in stools
abdominal pain
infantile colic
Respiratory system
food refusal or
upper respiratory
aversion
tract symptoms ­
constipation
nasal
perianal redness
itching,sneezing,
pallor and
rhinorrhoea or
tiredness
congestion (with or
faltering growth
without
plus one or more
conjunctivitis)
gastrointestinal
lower respiratory
symptoms above
tract symptoms ­
(with or without
cough, chest
significant atopic
tightness, wheezing
eczema)
or shortness of
breath

Symptoms of anaphylaxis

If the history is suggestive of an IgE­mediated allergy


offer a skin prick test or blood tests for specific IgE antibodies to the suspected foods and likely co­
allergens
If the history is suggestive of an non­IgE­mediated allergy
eliminate the suspected allergen for 2­6 weeks, then reintroduce. NICE advise to 'consult a dietitian
with appropriate competencies about nutritional adequacies, timings and follow­up'
Fragile X

Fragile X is a trinucleotide repeat disorder

Features in males
learning difficulties
large low set ears, long thin face, high arched palate
macroorchidism
hypotonia
autism is more common
mitral valve prolapse

Features in females (who have one fragile chromosome and one normal X
chromosome) range from normal to mild

Diagnosis
can be made antenatally by chorionic villus sampling or amniocentesis
analysis of the number of CGG repeats using restriction endonuclease
digestion and Southern blot analysis
Fraser guidelines

The Fraser guidelines are used to assess if patient who has not yet reached 16 years
of age is competent to consent to treatment, for example with respect to contraception

The following points should be fulfilled:


the young person understands the professional's advice
the young person cannot be persuaded to inform their parents or allow the
professional to contact them on their behalf
the young person is likely to begin, or continue having, sexual intercourse with
or without contraceptive treatment
unless the young person receives contraceptive treatment, their physical or
mental health, or both, is likely to suffer
the young person's best interests require them to receive contraceptive advice
or treatment with or without parental consent
Glue ear

Glue ear describes otitis media with an effusion (other terms include serous otitis
media). It is common with the majority of children having at least one episode during
childhood

Risk factors
male sex
siblings with glue ear
higher incidence in Winter and Spring
bottle feeding
day care attendance
parental smoking

Features
peaks at 2 years of age
hearing loss is usually the presenting feature (glue ear is the commonest cause
of conductive hearing loss and elective surgery in childhood)
secondary problems such as speech and language delay, behavioural or
balance problems may also be seen

Treatment options include:


grommet insertion ­ to allow air to pass through into the middle ear and hence
do the job normally done by the Eustachian tube. The majority stop functioning
after about 10 months
adenoidectomy
Growing pains

A common presentation in General Practice is a child complaining of pain in the legs


with no obvious cause. Such presentations, in the absence of any worrying features,
are often attributed to 'growing pains'. This is a misnomer as the pains are often not
related to growth ­ the current term used in rheumatology is 'benign idiopathic
nocturnal limb pains of childhood'

Growing pains are equally common in boys and girls and occur in the age range of 3­
12 years.

Features of growing pains


never present at the start of the day after the child has woken
no limp
no limitation of physical activity
systemically well
normal physical examination
motor milestones normal
symptoms are often intermittent and worse after a day of vigorous activity
Growth charts

The UK has recently switched to the new growth charts based on the WHO growth
standard for children under the age of 5 years. The new UK­WHO charts have a
separate preterm section and a 0­1 year section.

Key points
based on data from breast fed infants and all ethnic groups
the data matches UK children well for height and length but after 6 months UK
children and slightly more heavy and more likely to be above the 98% centile
preterm infants born at 32­36 weeks have a separate chart until 2 weeks post­
term

Please see the comprehensive review by Wright CM et al. BMJ 2010; 340:c1140 for
more information.
Gynaecological problems in children

In general vaginal examinations and vaginal swabs should not be performed ­ referral
to a paediatric gynaecologist is appropriate for persistent problems

Most newborn girls have some mucoid white vaginal discharge. This usually
disappears by 3 months of age

Vulvovaginitis
commonest gynaecological disorder in girls
risk factors include poor hygiene, tight clothing, lack of labial fat pads protecting
vaginal orifice and lack of protective acid secretion found in the reproductive
years
bacterial (such as Gardnerella and Bacteroides) or fungal organisms may be
responsible
sexual abuse may occasionally present as vulvovaginitis
if bloody discharge consider foreign body

Management
advise about hygiene
soothing creams may be useful
topical antibiotics/antifungals
oestrogen cream in resistant cases
Hand, foot and mouth disease

Hand, foot and mouth disease is a self­limiting condition affecting children. It is caused by the intestinal
viruses of the Picornaviridae family (most commonly coxsackie A16 and enterovirus 71). It is very contagious
and typically occurs in outbreaks at nursery

Clinical features
mild systemic upset: sore throat, fever
oral ulcers
followed later by vesicles on the palms and soles of the feet

© Image used on license from DermNet NZ

© Image used on license from DermNet NZ

Management
general advice about hydration and analgesia
reassurance no link to disease in cattle
children do not need to be excluded from school*

*The HPA recommends that children who are unwell should be kept off school until they feel better. They
also advise that you contact them if you suspect that there may be a large outbreak.
Head lice

Head lice (also known as pediculosis capitis or 'nits') is a common condition in children
caused by the parasitic insect Pediculus capitis, which lives on and among the hair of
the scalp of humans

Diagnosis
fine­toothed combing of wet or dry hair

Management
treatment is only if living lice are found
a choice of treatments should be offered ­ malathion, wet combing, dimeticone,
isopropyl myristate and cyclomethicone

School exclusion is not advised for children with head lice


Headache in children

Some of the following is based on an excellent review article on the Great Ormond Street Hospital
website.

Epidemiology
up to 50 per cent of 7­year­olds and up to 80 per cent of 15­year­old have experienced at
least one headache
equally as common in boys/girls until puberty then strong (3:1) female preponderance

Migraine

Migraine without aura is the most common cause of primary headache in children. The
International Headache Society (IHS) have produced criteria for paediatric migraine without aura:

A >= 5 attacks fulfilling features B to D

B Headache attack lasting 4­72 hours

C Headache has at least two of the following


four features:
bilateral or unilateral
(frontal/temporal) location
pulsating quality
moderate to severe intensity
aggravated by routine physical
activity

D At least one of the following accompanies


headache:
nausea and/or vomiting
photophobia and phonophobia (may
be inferred from behaviour)

Acute management
ibuprofen is thought to be more effective than paracetamol for paediatric migraine
the use of triptans in children should only be initiated by a specialist
sumatriptan nasal spay (licensed) is the only triptan that has proven efficacy but it is poorly
tolerated by young people who don't like the taste in the back of the throat
orodispersible zolmitriptan (unlicensed) is widely used in children aged 8­years and older
side­effects of triptans include tingling, heat and heaviness/pressure sensations

Prophylaxis
the evidence base is limited and no clear consensus guidelines exist
the GOSH website states: 'in practice, pizotifen and propranolol should be used as first line
preventatives in children. Second line preventatives are valproate, topiramate and
amitryptiline'

Tension­type headache (TTH)

Tension­type headache is the second most common cause of headache in children. The IHS
diagnostic criteria for TTH in children is reproduced below:

At least 10 previous headache episodes


A fulfilling features B to D

B Headache lasting from 30 minutes to 7


days

C At least two of the following pain


characteristics:
pressing/tightening (non/pulsating)
quality
mild or moderate intensity (may
inhibit but does not prohibit activity)
bilateral location
no aggravation by routine physical
activity

D Both of the following:


no nausea or vomiting
photophobia and phonophobia, or
one, but not the other is present
Hearing problems in children

The most common causes of hearing problems in children are listed below

Conductive
secretory otitis media
Down's syndrome*

Sensorineural
hereditary ­ Usher syndrome, Pendred syndrome, Jervell­Lange­Nielson
syndrome, Wardenburg syndrome
congenital infection e.g. rubella
acquired ­ meningitis, head injury
cerebral palsy
perinatal insult

*may have elements of sensorineural loss as well


Hearing testing in children

The table below summarises the hearing tests which may be performed on children

Age Test Comments

Newborn Otoacoustic All newborns should be


emission test tested as part of
the Newborn Hearing
Screening Programme.
A computer generated
click is played through a
small earpiece. The
presence of a soft echo
indicates a healthy
cochlea

Newborn Auditory May be done if


& infants Brainstem otoacoustic emission test
Response is abnormal
test

6­9 Distraction Performed by health


months test visitor, requires two
trained staff

18 Recognition Uses familiar objects e.g.


months ­ of familiar teddy, cup. Ask child
2.5 objects simple questions ­ e.g.
years 'where is the teddy?'

> 2.5 Performance ­


years testing

> 2.5 Speech Uses similar sounding


years discrimination objects e.g. Kendall Toy
tests test, McCormick Toy Test

>3 Pure tone Done at school entry in


years audiometry most areas of the UK

As well as the above test there is a questionnaire for parents in the Personal Child Health Records ­ 'Can
your baby hear you?'
Henoch­Schonlein purpura

Henoch­Schonlein purpura (HSP) is an IgA mediated small vessel vasculitis. There is a degree of overlap
with IgA nephropathy (Berger's disease). HSP is usually seen in children following an infection.

Features
palpable purpuric rash (with localized oedema) over buttocks and extensor surfaces of arms and legs
abdominal pain
polyarthritis
features of IgA nephropathy may occur e.g. haematuria, renal failure

© Image used on license from DermNet NZ

Treatment
analgesia for arthralgia
treatment of nephropathy is generally supportive. There is inconsistent evidence for the use of
steroids and immunosuppressants

Prognosis
usually excellent, HSP is a self­limiting condition, especially in children without renal involvement
around 1/3rd of patients have a relapse
© Image used on license from DermNet NZ

© Image used on license from DermNet NZ


Hypertension in children

Measuring blood pressure in children


correct cuff size is approximately 2/3 the length of the upper arm
the 4th Korotkoff sound is used to measure the diastolic blood pressure until
adolescence, when the 5th Korotkoff sound can be used
results should be compared with a graph of normal values for age

In younger children secondary hypertension is the most common cause, with renal
parenchymal disease accounting for up to 80%

Causes of hypertension in children


renal parenchymal disease
renal vascular disease
coarctation of the aorta
phaeochromocytoma
congenital adrenal hyperplasia
essential or primary hypertension (becomes more common as children become
older)
Hypokalaemia and hypertension

For exams it is useful to be able to classify the causes of hypokalaemia in to those


associated with hypertension, and those which are not

Hypokalaemia with hypertension


Cushing's syndrome
Conn's syndrome (primary hyperaldosteronism)
Liddle's syndrome
11­beta hydroxylase deficiency*

Carbenoxolone, an anti­ulcer drug, and liquorice excess can potentially cause


hypokalaemia associated with hypertension

Hypokalaemia without hypertension


diuretics
GI loss (e.g. Diarrhoea, vomiting)
renal tubular acidosis (type 1 and 2**)
Bartter's syndrome
Gitelman syndrome

*21­hydroxylase deficiency, which accounts for 90% of congenital adrenal hyperplasia


cases, is not associated with hypertension

**type 4 renal tubular acidosis is associated with hyperkalaemia


Hypothyroidism in children

The most common cause of hypothyroidism in children (juvenile hypothyroidism) is


autoimmune thyroiditis.

Other causes include


post total­body irradiation (e.g. in a child previous treated for acute
lymphoblastic leukaemia)
iodine deficiency (the most common cause in the developing world)
Hypotonia

Hypotonia, or floppiness, may be central in origin or related to nerve and muscle


problems. An acutely ill child (e.g. septicaemic) may be hypotonic on examination.
Hypotonia associated with encephalopathy in the newborn period is most likely
caused by hypoxic ischaemic encephalopathy

Central causes
Down's syndrome
Prader­Willi syndrome
hypothyroidism
cerebral palsy (hypotonia may precede the development of spasticity)

Neurological and muscular problems


spinal muscular atrophy
spina bifida
Guillain­Barre syndrome
myasthenia gravis
muscular dystrophy
myotonic dystrophy
Immunisation

The Department of Health published guidance in 2006 on the safe administration of


vaccines in its publication 'Immunisation against infectious disease'

General contraindications to immunisation


confirmed anaphylactic reaction to a previous dose of a vaccine containing the
same antigens
confirmed anaphylactic reaction to another component contained in the relevant
vaccine (e.g. egg protein)

Situations where vaccines should be delayed


febrile illness/intercurrent infection

Contraindications to live vaccines


pregnancy
immunosuppression

Specific vaccines
DTP: vaccination should be deferred in children with an evolving or unstable
neurological condition

Not contraindications to immunisation


asthma or eczema
history of seizures (if associated with fever then advice should be given
regarding antipyretics)
breastfed child
previous history of natural pertussis, measles, mumps or rubella infection
history of neonatal jaundice
family history of autism
neurological conditions such as Down's or cerebral palsy
low birth weight or prematurity
patients on replacement steroids e.g. (CAH)
Immunisation schedule

The current UK immunisation schedule is as follows.

Age Recommended immunisations

At birth BCG / hepatitis B vaccine if risk


factors (see below)

2 DTaP/IPV/Hib
months PCV
Oral rotavirus vaccine
Men B

3 DTaP/IPV/Hib
months Men C
Oral rotavirus vaccine

4 DTaP/IPV/Hib
months PCV
Men B

12­13 Hib/Men C
months MMR
PCV
Men B

2­3 Flu vaccine (annual)


years

3­4 MMR + DTaP/IPV


years

12­13 HPV vaccination for girls


years

13­18 DT/IPV
years Men ACWY

At birth the BCG vaccine should be given if the baby is deemed at risk of tuberculosis (e.g.
Tuberculosis in the family in the past 6 months).

Hepatitis B vaccine should be given at birth if the mother is HBsAg +ve.

Meningitis ACWY vaccine


Note that the meningitis ACWY vaccine has replaced meningitis C for 13­18 year­olds. This is due
to an increased incidence of meningitis W disease in recent years. The ACWY vaccine will also be
offered to new students (up to the age of 25 years) at university. With respect to getting the
vaccine, the NHS give the following advice to patients:

'GP practices will automatically send letters inviting 17­and 18­year­olds


in school year 13 to have the Men ACWY vaccine.
Students going to university or college for the first time as freshers,
including overseas and mature students up to the age of 25, should
contact their GP to have the Men ACWY vaccine, ideally before the start
of the academic year'

Key
DTaP = Diphtheria, Tetanus, acellular Pertussis vaccine
IPV = Inactivated Polio Vaccine
Hib = Haemophilus influenzae B vaccine
PCV = Pneumococcal Conjugate Vaccine
Men B = Meningococcal B vaccine
Men C = Meningococcal C vaccine
Men ACWY = Meningococcal vaccine covering A, C, W and Y serotypes
MMR = Measles, Mumps, Rubella vaccine
DT = Diphtheria, Tetanus vaccine
HPV = Human Papilloma Vaccine
Infantile colic

Infantile colic describes a relatively common and benign set of symptoms seen in
young infants. It typically occurs in infants less than 3 months old and is characterised
by bouts of excessive crying and pulling­up of the legs, often worse in the evening

Infantile colic occurs in up to 20% of infants. The cause of infantile colic is unknown
Infantile spasms

Infantile spasms, or West syndrome, is a type of childhood epilepsy which typically


presents in the first 4 to 8 months of life and is more common in male infants. They
are often associated with a serious underlying condition and carry a poor prognosis

Features
characteristic 'salaam' attacks: flexion of the head, trunk and arms followed by
extension of the arms
this lasts only 1­2 seconds but may be repeated up to 50 times
progressive mental handicap

Investigation
the EEG shows hypsarrhythmia in two­thirds of infants
CT demonstrates diffuse or localised brain disease in 70% (e.g. tuberous
sclerosis)

Management
poor prognosis
vigabatrin is now considered first­line therapy
ACTH is also used
Inhaler technique

The following inhaler technique guideline is for metered dose inhalers (source:
Asthma.org.uk, a resource recommended to patients by the British Thoracic Society)

1. Remove cap and shake

2. Breathe out gently

3. Put mouthpiece in mouth and as you begin to breathe in, which should be slow and
deep, press canister down and continue to inhale steadily and deeply

4. Hold breath for 10 seconds, or as long as is comfortable

5. For a second dose wait for approximately 30 seconds before repeating steps 1­4.

Only use the device for the number of doses on the label, then start a new inhaler.
Innocent murmurs

Innocent murmurs heard in children include

Due to turbulent blood


Ejection flow at the outflow tract of
murmurs the heart

Venous Due to the turbulent blood


hums flow in the great veins
returning to the heart. Heard
as a continuous blowing
noise heard just below the
clavicles

Still's Low­pitched sound heard at


murmur the lower left sternal edge

Characteristics of an innocent ejection murmur include:


soft­blowing murmur in the pulmonary area or short buzzing murmur in the
aortic area
may vary with posture
localised with no radiation
no diastolic component
no thrill
no added sounds (e.g. clicks)
asymptomatic child
no other abnormality
Intussusception

Intussusception describes the invagination of one portion of bowel into the lumen of
the adjacent bowel, most commonly around the ileo­caecal region.

Intussusception usually affects infants between 6­18 months old. Boys are affected
twice as often as girls

Features
paroxysmal abdominal colic pain
during paroxysm the infant will characteristically draw their knees up and turn
pale
vomiting
blood stained stool ­ 'red­currant jelly'
sausage­shaped mass in the right lower quadrant

Investigation
ultrasound is now the investigation of choice and may show a target­like mass

Management
the majority of children can be treated with reduction by air insufflation under
radiological control, which is now widely used first­line compared to the
traditional barium enema
if this fails, or the child has signs of peritonitis, surgery is performed
Iron deficiency anaemia in children

Iron deficiency anaemia is the most common nutritional disorder of childhood,


affecting around 10% of children in the UK. The prevalence is higher in Asian, Afro­
Caribbean and Chinese children

Causes
socioeconomic ­ iron supplemented milk formulas may be more expensive
unmodified cow's milk ­ a poor source of iron due to it being in a form that is not
absorbed well, therefore should be introduced after 1 year of age*
ethnic origin ­ e.g. Asian mothers may introduce solids later

Prevention
supplementary iron in milk
dietary education
free formulas for at risk infants

*whilst breast milk is relatively low in iron it is present in a form that is easily absorbed
Jaundice in the newborn period

Jaundice in the first 24 hrs is always pathological

Causes of jaundice in the first 24 hrs


rhesus haemolytic disease
ABO haemolytic disease
hereditary spherocytosis
glucose­6­phosphodehydrogenase

Jaundice in the neonate from the c. 2­14 days is common (up to 40%) and usually
physiological. It is more commonly seen in breast fed babies

If there are still signs of jaundice after 14 days a prolonged jaundice screen is
performed, including:
conjugated and unconjugated bilirubin: the most important test as a raised
conjugated bilirubin could indicate biliary atresia which requires urgent surgical
intervention
direct antiglobulin test (Coombs' test)
TFTs
FBC and blood film
urine for MC&S and reducing sugars
U&Es and LFTs

Causes of prolonged jaundice


biliary atresia
hypothyroidism
galactosaemia
urinary tract infection
breast milk jaundice
congenital infections e.g. CMV, toxoplasmosis
Kawasaki disease

Kawasaki disease is a type of vasculitis which is predominately seen in children. Whilst


Kawasaki disease is uncommon it is important to recognise as it may cause potentially
serious complications, including coronary artery aneurysms

Features
high­grade fever which lasts for > 5 days. Fever is characteristically resistant to
antipyretics
conjunctival injection
bright red, cracked lips
strawberry tongue
cervical lymphadenopathy
red palms of the hands and the soles of the feet which later peel

Kawasaki disease is a clinical diagnosis as there is no specific diagnostic test

Management
high­dose aspirin*
intravenous immunoglobulin
echocardiogram (rather than angiography) is used as the initial screening test
for coronary artery aneurysms

Complications
coronary artery aneurysm

*Kawasaki disease is one of the few indications for the use of aspirin in children. Due
to the risk of Reye's syndrome aspirin is normally contraindicated in children.
Limping child

Causes of a limping child may vary according to age

Acute onset
Usually
accompanies viral
infections, but the
child is well or has
a mild fever
More common in
boys, aged 2­12
Transient synovitis years

Septic Unwell child, high


arthritis/osteomyelitis fever

Juvenile idiopathic Limp may be


arthritis painless

Trauma History is usually


diagnostic

Development Usually detected in


dysplasia of the hip neonates
6 times more
common in girls

Perthes disease More common at 4­8


years
Due to avascular
necrosis of the
femoral head

Slipped upper 10­15 years ­


femoral epiphysis Displacement of the
femoral head
epiphysis postero­
inferiorly
Macrocephaly

Causes of macrocephaly in children include:


normal variant
chronic hydrocephalus
chronic subdural effusion
neurofibromatosis
gigantism (e.g. Soto's syndrome)
metabolic storage diseases
bone problems e.g. thalassaemia
Malaria: prophylaxis

There are around 1,500­2,000 cases each year of malaria in patients returning from endemic
countries. The majority of these cases (around 75%) are caused by the potentially
fatal Plasmodium falciparum protozoa. The majority of patients who develop malaria did not take
prophylaxis. It should also be remembered that UK citizens who originate from malaria endemic
areas quickly lose their innate immunity.

Up­to­date charts with recommended regimes for malarial zones should be consulted prior to
prescribing

Time Time
to to
begin end
Side­effects + before after
Drug notes travel travel

Atovaquone GI upset 1­2 7


+ proguanil days days
(Malarone)

Chloroquine Headache 1 4
week weeks
Contraindicated
in epilepsy
Taken weekly

Doxycycline Photosensitivity 1­2 4


Oesophagitis days weeks

Mefloquine Dizziness 2­3 4


(Lariam) Neuropsychiatric weeks weeks
disturbance

Contraindicated
in epilepsy
Taken weekly

Proguanil 1 4
(Paludrine) week weeks

Proguanil + See above 1 4


chloroquine week weeks
Pregnant women should be advised to avoid travelling to regions where malaria is endemic.
Diagnosis can also be difficult as parasites may not be detectable in the blood film due to
placental sequestration. However, if travel cannot be avoided:
chloroquine can be taken
proguanil: folate supplementation (5mg od) should be given
Malarone (atovaquone + proguanil): the BNF advises to avoid these drugs unless
essential. If taken then folate supplementation should be given
mefloquine: caution advised
doxycycline is contraindicated

It is again advisable to avoid travel to malaria endemic regions with children if avoidable.
However, if travel is essential then children should take malarial prophylaxis as they are more at
risk of serious complications.
diethyltoluamide (DEET) 20­50% can be used in children over 2 months of age
doxycycline is only licensed in the UK for children over the age of 12 years
Measles

Overview
RNA paramyxovirus
spread by droplets
infective from prodrome until 4 days after rash starts
incubation period = 10­14 days

Features
prodrome: irritable, conjunctivitis, fever
Koplik spots (before rash): white spots ('grain of salt') on buccal mucosa
rash: starts behind ears then to whole body, discrete maculopapular rash becoming blotchy
& confluent

© Image used on license from DermNet NZ

Koplik spots

Complications
encephalitis: typically occurs 1­2 weeks following the onset of the illness)
subacute sclerosing panencephalitis: very rare, may present 5­10 years following the
illness
febrile convulsions
giant cell pneumonia
keratoconjunctivitis, corneal ulceration
diarrhoea
increased incidence of appendicitis
myocarditis
© Image used on license from DermNet NZ

The rash typically starts behind the ears and then spreads to the whole
body

Management of contacts
if a child not immunized against measles comes into contact with measles then MMR
should be offered (vaccine­induced measles antibody develops more rapidly than that
following natural infection)
this should be given within 72 hours
Meningitis B vaccine

Children in the UK have been routinely immunised against serotypes A & C of


meningococcus for many years. As a result meningococcal B became the most
common cause of bacterial meningitis in the UK. A vaccination against meningococcal
B (Bexsero) has recently been developed and introduced to the UK market.

The Joint Committee on Vaccination and Immunisation (JCVI) initially rejected the use
of Bexsero after doing a cost­benefit analysis. This descision was eventually reversed
and meningitis B has now been added to the routine NHS immunisation.

Three doses are now given at:


2 months
4 months
12­13 months

Bexsero will also be available on the NHS for patients at high risk of meningococcal
disease, such as people with asplenia, splenic dysfunction or complement disorder.
Meningococcal septicaemia

Meningococcal septicaemia is a frightening condition for patients, parents and


doctors. It is associated with a high morbidity and mortality unless treated early ­
meningococcal disease is the leading infectious cause of death in early childhood. A
high index of suspicion is therefore needed. Much of the following is based on the
2010 NICE guidelines (please see link).

Presentation of meningococcal disease:


15% ­ meningitis
25% ­ septicaemia
60% ­ a combination of meningitis and septicaemia

NICE divide the features of meningococcal septicaemia into:


common non­specific symptoms/signs e.g. fever, vomiting, lethargy
less common non­specific symptoms/signs e.g. Chills, shivering
more specific symptoms/signs e.g. Non­blanching rash, altered mental state,
capillary refill time more than 2 seconds, unusual skin colour, shock,
hypotension, leg pain, cold hands/feet

Management if suspected meningococcal septicaemia


give intramuscular or intravenous benzylpenicillin unless there is a history of
anaphylaxis (do not give if this will delay hospital transfer)
NICE recommend phoning 999
Microcephaly

Microcephaly may be defined as an occipital­frontal circumference < 2nd centile

Causes include
normal variation e.g. small child with small head
familial e.g. parents with small head
congenital infection
perinatal brain injury e.g. hypoxic ischaemic encephalopathy
fetal alcohol syndrome
syndromes: Patau
craniosynostosis
Minimal change disease

Minimal change disease nearly always presents as nephrotic syndrome, accounting


for 75% of cases in children and 25% in adults.

The majority of cases are idiopathic, but in around 10­20% a cause is found:
drugs: NSAIDs, rifampicin
Hodgkin's lymphoma, thymoma
infectious mononucleosis

Pathophysiology
T­cell and cytokine mediated damage to the glomerular basement membrane
→ polyanion loss
the resultant reduction of electrostatic charge → increased glomerular
permeability to serum albumin

Features
nephrotic syndrome
normotension ­ hypertension is rare
highly selective proteinuria*
renal biopsy: electron microscopy shows fusion of podocytes

Management
majority of cases (80%) are steroid responsive
cyclophosphamide is the next step for steroid resistant cases

Prognosis is overall good, although relapse is common. Roughly:


1/3 have just one episode
1/3 have infrequent relapses
1/3 have frequent relapses which stop before adulthood

*only intermediate­sized proteins such as albumin and transferrin leak through the
glomerulus
MMR vaccine

Children in the UK receive two doses of the Measles, Mumps and Rubella (MMR)
vaccine before entry to primary school. This currently occurs at 12­15 months and 3­4
years as part of the routine immunisation schedule

Contraindications to MMR
severe immunosuppression
allergy to neomycin
children who have received another live vaccine by injection within 4 weeks
pregnancy should be avoided for at least 1 month following vaccination
immunoglobulin therapy within the past 3 months (there may be no immune
response to the measles vaccine if antibodies are present)

Adverse effects
malaise, fever and rash may occur after the first dose of MMR. This typically
occurs after 5­10 days and lasts around 2­3 days
Napkin rashes

Causes of a napkin ('nappy') rash include the following:

The most common cause,


due to irritant effect of
urinary ammonia and faeces
Creases are
Irritant dermatitis characteristically spared

Candidadermatitis Typically an erythematous rash


which involve the flexures and
has characteristic satellite
lesions

Seborrhoeic Erythematous rash with flakes.


dermatitis May be coexistent scalp rash

Psoriasis A less common cause


characterised by an
erythematous scaly rash also
present elsewhere on the skin

Atopic eczema Other areas of the skin will also


be affected

General management points


disposable nappies are preferable to towel nappies
expose napkin area to air when possible
apply barrier cream (e.g. Zinc and castor oil)
mild steroid cream (e.g. 1% hydrocortisone) in severe cases
Neonatal blood spot screening

Neonatal blood spot screening (previously called the Guthrie test or 'heel­prick test') is
performed at 5­9 days of life

The following conditions are currently screened for:


congenital hypothyroidism
cystic fibrosis
phenylketonuria
sickle cell disease
medium chain acyl­CoA dehydrogenase deficiency (MCADD)
Nephrotic syndrome in children

Nephrotic syndrome is classically defined as a triad of


proteinuria (> 1 g/m^2 per 24 hours)
hypoalbuminaemia (< 25 g/l)
oedema

In children the peak incidence is between 2 and 5 years of age. Around 80% of cases
in children are due to a condition called minimal change glomerulonephritis. The
condition generally carries a good prognosis with around 90% of cases responding to
high­dose oral steroids.

Other features include hyperlipidaemia, a hypercoagulable state (due to loss of


antithrombin III) and a predisposition to infection (due to loss of immunoglobulins)
Nocturnal enuresis

The majority of children achieve day and night time continence by 3 or 4 years of age.
Enuresis may be defined as the 'involuntary discharge of urine by day or night or both,
in a child aged 5 years or older, in the absence of congenital or acquired defects of
the nervous system or urinary tract'

Nocturnal enuresis can be defined as either primary (the child has never achieved
continence) or secondary (the child has been dry for at least 6 months before)

NICE issued guidance in 2010. Management:


look for possible underlying causes/triggers (e.g. Constipation, diabetes
mellitus, UTI if recent onset)
advise on fluid intake, diet and toileting behaviour
reward systems (e.g. Star charts). NICE recommend these 'should be given for
agreed behaviour rather than dry nights' e.g. Using the toilet to pass urine
before sleep
NICE advise: 'Consider whether alarm or drug treatment is appropriate,
depending on the age, maturity and abilities of the child or young person, the
frequency of bedwetting and the motivation and needs of the family'. Generally:
an enuresis alarm is first­line for children under the age of 7 years
desmopressin may be used first­line for children over the ago 7 years,
particularly if short­term control is needed or an enuresis alarm has been
ineffective/is not acceptable to the family
please see the link for more details
Obesity in children

Defining obesity is more difficult in children than adults as body mass index (BMI)
varies with age. BMI percentile charts are therefore needed to make an accurate
assessment. Recent NICE guidelines suggest to use 'UK 1990 BMI charts to give age­
and gender­specific information'

NICE recommend
consider tailored clinical intervention if BMI at 91st centile or above.
consider assessing for comorbidities if BMI at 98th centile or above

By far the most common cause of obesity in childhood is lifestyle factors. Other
associations of obesity in children include:
Asian children: four times more likely to be obese than white children
female children
taller children: children with obesity are often above the 50th percentile in height

Cause of obesity in children


growth hormone deficiency
hypothyroidism
Down's syndrome
Cushing's syndrome
Prader­Willi syndrome

Consequences of obesity in children


orthopaedic problems: slipped upper femoral epiphyses, Blount's disease (a
development abnormality of the tibia resulting in bowing of the legs),
musculoskeletal pains
psychological consequences: poor self­esteem, bullying
sleep apnoea
benign intracranial hypertension
long­term consequences: increased incidence of type 2 diabetes mellitus,
hypertension and ischaemic heart disease
Over­the­counter treatments

Cough and cold remedies

In 2009 the Medicines and Healthcare products Regulatory Agency (MHRA) /


Commission on Human Medicines (CHM) announced a major change in the
regulation of over­the­counter (OTC) preparations aimed at children with
coughs/colds (e.g. Tixylix, Medised etc)

This affected medicines containing a wide range of ingredients:


cough suppressants: dextromethorphan and pholcodine
expectorants: guaifenesin and ipecacuanha
nasal decongestants: ephedrine, oxymetazoline, phenylephrine,
pseudoephedrine and xylometazoline
antihistamines: brompheniramine, chlorphenamine, diphenhydramine,
doxylamine, promethazine and triprolidine

Products with these ingredients should therefore be avoided in children under the age
of 6 years. Products aimed at children aged 6­12 years which contain these
ingredients will only be available after discussion with a pharmacist, i.e. Not on the
shelves.
Paediatric basic life support

The 2010 Resuscitation Council guidelines made the following changes to paediatric
basic life support
compression:ventilation ratio: lay rescuers should use a ratio of 30:2. If there
are two or more rescuers with a duty to respond then a ratio of 15:2 should be
used
age definitions: an infant is a child under 1 year, a child is between 1 year and
puberty

Key points of algorithm (please see link attached for more details)
unresponsive?
shout for help
open airway
look, listen, feel for breathing
give 5 rescue breaths
check for signs of circulation
15 chest compressions:2 rescue breaths (see above)
Paediatric drug doses: common

The current BNF should always be consulted prior to prescribing drugs you are
unfamiliar with, the following is just a guide

Paracetamol

15 mg/kg qds

Amoxicillin

1 month ­ 1 year 62.5 mg tds

1 ­ 5 years 125 mg tds

5 ­ 12 years 250 mg tds

500 mg tds
12 ­ 18 years

CKS recommend using a higher dose of amoxicillin (40 mg/kg/day) for otitis media.

Erythromycin

1 month ­ 2 years 125 mg qds

2 ­ 8 years 250 mg qds

8 ­ 18 years 250­500 mg qds


Paediatric drug doses: emergency

The current BNF should always be consulted prior to prescribing drugs you are
unfamiliar with, the following is just a guide

IM benzylpenicillin for suspected meningococcal septicaemia in the community

Age Dose

< 1 year 300 mg

1 ­ 10 years 600 mg

> 10 years 1200 mg


Paediatric vital signs

The table below indicate age­appropriate vital signs

Age Heart rate Respiratory rate

<1 110 ­ 160 30 ­ 40

1­2 100 ­ 150 25 ­ 35

2­5 90 ­ 140 25 ­ 30

5 ­ 12 80 ­ 120 20 ­ 25

> 12 60 ­ 100 15 ­ 20
Perthes disease

Perthes disease is a degenerative condition affecting the hip joints of children, typically between
the ages of 4­8 years. It is due to avascular necrosis of the femoral head

Perthes disease is 5 times more common in boys. Around 10% of cases are bilateral

Features
hip pain: develops progressively over a few weeks
limp
stiffness and reduced range of hip movement
x­ray: early changes include widening of joint space, later changes include decreased
femoral head size/flattening

Complications
osteoarthritis
premature fusion of the growth plates

© Image used on license from Radiopaedia

Perthes disease ­ both femoral epiphyses show extensive destruction,


the acetabula are deformed
© Image used on license from Radiopaedia

Perthes disease ­ bilateral disease


Pre­school wheeze in children

Wheeze is extremely common in pre­school children, with an estimated 25% of


children having an episode of wheeze before 18 months. Viral­induced wheeze is now
one of the most common diagnoses made on paediatric wards. There is however
ongoing debate regarding the classification of wheeze in this age group and the most
appropriate management.

Over recent years, led by the European Respiratory Society Task Force, the favoured
classification for pre­school wheeze is to divide children into one of two groups;
episodic viral wheeze: only wheezes when has a viral upper respiratory tract
infection (URTI) and is symptom free inbetween episodes
multiple trigger wheeze: as well as viral URTIs, other factors appear to trigger
the wheeze such as exercise, allergens and cigarette smoke

Episodic viral wheeze is not associated with an increased risk of asthma in later life
although a proportion of children with multiple trigger wheeze will develop asthma.

Management

Parents who are smokers should be strongly encouraged to stop.

Episodic viral wheeze


treatment is symptomatic only
first­line is treatment with short acting beta 2 agonists (e.g. salbutamol) or
anticholinergic via a spacer
next step is intermittent leukotriene receptor antagonist (montelukast),
intermittent inhaled corticosteroids, or both
there is now thought to be little role for oral prednisolone in children who do not
require hospital treatment

Multiple trigger wheeze


trial of either inhaled corticosteroids or a leukotriene receptor antagonist
(montelukast), typically for 4­8 weeks
Precocious puberty

Definition
'development of secondary sexual characteristics before 8 years in females and
9 years in males'
more common in females

Some other terms


thelarche (the first stage of breast development)
adrenarche (the first stage of pubic hair development)

May be classified into:

1. Gonadotrophin dependent ('central', 'true')


due to premature activation of the hypothalamic­pituitary­gonadal axis
FSH & LH raised

2. Gonadotrophin independent ('pseudo', 'false')


due to excess sex hormones
FSH & LH low

Males ­ uncommon and usually has an organic cause

Testes
bilateral enlargement = gonadotrophin release from intracranial lesion
unilateral enlargement = gonadal tumour
small testes = adrenal cause (tumour or adrenal hyperplasia)

Females ­ usually idiopathic or familial and follows normal sequence of puberty

Organic causes
are rare, associated with rapid onset, neurological symptoms and signs and
dissonance
e.g. McCune Albright syndrome
Puberty

Males
first sign is testicular growth at around 12 years of age (range = 10­15 years)
testicular volume > 4 ml indicates onset of puberty
maximum height spurt at 14

Females
first sign is breast development at around 11.5 years of age (range = 9­13
years)
height spurt reaches its maximum early in puberty (at 12) , before menarche
menarche at 13 (11­15)
there is an increase of only about 4% of height following menarche

Normal changes in puberty


gynaecomastia may develop in boys
asymmetrical breast growth may occur in girls
diffuse enlargement of the thyroid gland may be seen
Pyloric stenosis

Pyloric stenosis typically presents in the second to fourth weeks of life with vomiting,
although rarely may present later at up to four months. It is caused by hypertrophy of
the circular muscles of the pylorus

Epidemiology
incidence of 4 per 1,000 live births
4 times more common in males
10­15% of infants have a positive family history
first­borns are more commonly affected

Features
'projectile' vomiting, typically 30 minutes after a feed
constipation and dehydration may also be present
a palpable mass may be present in the upper abdomen
hypochloraemic, hypokalaemic alkalosis due to persistent vomiting

Diagnosis is most commonly made by ultrasound

Management is with Ramstedt pyloromyotomy


Retinoblastoma

Retinoblastoma is the most common ocular malignancy found in children. The


average age of diagnosis is 18 months.

Pathophysiology
caused by a loss of function of the retinoblastoma tumour suppressor gene on
chromosome 13
around 10% of cases are hereditary

Possible features
absence of red­reflex, repalced by a white pupil (leukocoria) ­ the most
common presenting symptom
strabismus
visual problems

Management
enucleation is not the only option
depending on how advanced the tumour is other options include external beam
radiation therapy, chemotherapy and photocoagulation

Prognosis
excellent, with > 90% surviving into adulthood
Rheumatic fever: criteria

Rheumatic fever develops following an immunological reaction to recent (2­6 weeks


ago)Streptococcus pyogenes infection. Diagnosis is based on evidence of recent
streptococcal infection accompanied by:
2 major criteria
1 major with 2 minor criteria

Evidence of recent streptococcal infection


ASOT > 200iu/mL
history of scarlet fever
positive throat swab
increase in DNase B titre

Major criteria
erythema marginatum
Sydenham's chorea
polyarthritis
carditis (endo­, myo­ or peri­)
subcutaneous nodules

Minor criteria
raised ESR or CRP
pyrexia
arthralgia (not if arthritis a major criteria)
prolonged PR interval

© Image used on license from DermNet NZ

Erythema marginatum is seen in around 10% of children with rheumatic


fever. It is rare in adults
Rickets

Rickets is a term which describes inadequately mineralised bone in developing and


growing bones. This results in soft and easily deformed bones. It is usually due to
vitamin D deficiency. In adults the equivalent condition is termed osteomalacia

Predisposing factors
dietary deficiency of calcium, for example in developing countries
prolonged breast feeding
unsupplemented cow's milk formula
lack of sunlight

Features
in toddlers ­ genu varum (bow legs), in older children ­ genu valgum (knock
knees)
'rickety rosary' ­ swelling at the costochondral junction
kyphoscoliosis
craniotabes ­ soft skull bones in early life
Harrison's sulcus
reduced serum calcium ­ symptoms may results from hypocalcaemia
raised alkaline phosphatase

Management
oral vitamin D
Roseola infantum

Roseola infantum (also known as exanthem subitum, occasionally sixth disease) is a


common disease of infancy caused by the human herpes virus 6 (HHV6). It has an
incubation period of 5­15 days and typically affects children aged 6 months to 2 years.

Features
high fever: lasting a few days, followed by a
maculopapular rash
febrile convulsions occur in around 10­15%
diarrhoea and cough are also commonly seen

Other possible consequences of HHV6 infection


aseptic meningitis
hepatitis
Rotavirus vaccine

Rotavirus is a major public health problem, accounting for significant morbidity and
hospital admissions in the developed world and childhood mortality in the developing
world.

A vaccine was introduced into the NHS immunisation programme in 2013. The key
points to remember as as follows:
it is an oral, live attenuated vaccine
2 doses are required, the first at 2 months, the second at 3 months
the first dose should not be given after 14 weeks + 6 days and the second dose
cannot be given after 23 weeks + 6 days due to a theoretical risk
ofintussusception

Other points
the vaccine is around 85­90% effective and is predicted to decrease
hospitalisation by 70%
offers long­term protection against rotavirus
Scarlet fever

Scarlet fever is a reaction to erythrogenic toxins produced by Group A haemolytic


streptococci (usually Streptococcus pyogenes). It is more common in children aged 2 ­ 6
years with the peak incidence being at 4 years.

Scarlet fever has an incubation period of 2­4 days and typically presents with:
fever
malaise
tonsillitis
'strawberry' tongue
rash ­ fine punctate erythema ('pinhead') which generally appears first on the torso
and spares the face although children often have a flushed appearance with perioral
pallor. The rash often has a rough 'sandpaper' texture. Desquamination occurs later
in the course of the illness, particularly around the fingers and toes

© Image used on license from DermNet NZ

Diagnosis
a throat swab is normally taken but antibiotic treatment should be commenced
immediately, rather than waiting for the results

Management
oral penicillin V
patients who have a penicillin allergy should be given azithromycin
children can return to school 24 hours after commencing antibiotics
scarlet fever is a notifiable disease

Complications
otitis media: the most common complication
rheumatic fever: typically occurs 20 days after infection
acute glomerulonephritis: typically occurs 10 days after infection
Image sourced from Wikipedia
School exclusion

The table below summarises Health Protection Agency guidance on school exclusion

Advice Condition(s)

No exclusion Conjunctivitis
Fifth disease
Roseola
Infectious
mononucleosis
Head lice
Threadworms

24 hours after commencing Scarlet fever


antibiotics

Four days from onset of rash Measles

Five days from onset of rash Chickenpox

Five days from onset of swollen Mumps


glands

Five days after commencing Whooping cough


antibiotics

Six days from onset of rash Rubella

Until symptoms have settled for Diarrhoea &


48 hours vomiting

Until lesions have crusted over Impetigo

Until treated Scabies

Until recovered Influenza


Seizures: acute management

Most seizures are self­limiting and stop spontaneously but prolonged seizures may be potentially life­
threatening.

Basics
check the airway and apply oxygen if appropriate
place the patient in the recovery position
if the seizure is prolonged give benzodiazepines

BNF recommend dose for rectal diazepam, repeated once after 10­15 minutes if necessary

Neonate 1.25 ­ 2.5 mg

Child 1 month ­ 2 years 5 mg

Child 2 years ­ 12 years 5 ­ 10 mg

Child 12 years ­ 18 years 10 mg

Adult 10 ­ 20 mg (max. 30 mg)

Elderly 10 mg (max. 15 mg)


Short stature

Short stature may be caused by:


normal variant (often familial)
constitutional delay of growth and puberty
chronic illness e.g. cystic fibrosis, inflammatory bowel disease
endocrine: growth hormone deficiency , hypothyroidism, steroid excess
syndromes: Turner's, Down's, Prader­Willi
skeletal dysplasias e.g. achondroplasia

The adult height potential may be calculated for a male child by (father's height in cm
+ mother's height in cm) / 2 then add 7 cm

For a female child by (father's height in cm + mother's height in cm) / 2 then minus 7
cm

This can then be plotted on a height centile chart to find the mid­parental centile
Sickle­cell crises: management

General management
analgesia e.g. opiates
rehydrate
oxygen
consider antibiotics if evidence of infection
blood transfusion
exchange transfusion: e.g. if neurological complications
Skull problems in children

Plagiocephaly
parallelogram shaped head
the incidence of plagiocephaly has increased over the past decade. This may
be due to the success of the 'Back to Sleep' campaign

Craniosynostosis
premature fusion of skull bones
Snoring in children

Causes
obesity
nasal problems: polyps, deviated septum, hypertrophic nasal turbinates
recurrent tonsillitis
Down's syndrome
hypothyroidism
Special educational needs

If a school and parents recognise that a child is struggling then a review is performed
to see what can be done ­ this is called 'School Action'. If help from outside agencies
is needed (e.g. educational psychologist, speech therapist) then the review is called
'School Action Plus'. These actions may not however be adequate and a formal
statement of educational needs may be needed

A child may be defined as having special educational needs (SEN) if he or she has a
significantly greater difficulty in learning than the majority of children the same age, or
has a disability which either prevents or hinders the child from making use of
educational facilities provided for children of the same age in schools within the local
area

A special educational needs coordinator (SENCO) is a teacher who specialises in the


assessment of children who may require help

A 'statement' of SEN should be made and reviewed annually

The Education Act 1993 set out the above and aimed to provide early intervention to
children with SEN.
Squint

Squint (strabismus) is characterised by misalignment of the visual axes. Squints may


be divided into concomitant (common) and paralytic (rare)

Concomitant Paralytic

Due to imbalance in Due to paralysis


extraocular muscles of extraocular
Convergent is more muscles
common than
divergent

Detection of a squint may be made by the corneal light reflection test ­ holding a light
source 30cm from the child's face to see if the light reflects symmetrically on the
pupils

The cover test is used to identify the nature of the squint


ask the child to focus on a object
cover one eye
observe movement of uncovered eye
cover other eye and repeat test

Management
eye patches may help prevent amblyopia
referral to secondary care is appropriate
Sudden infant death syndrome

Sudden infant death syndrome is the commonest cause of death in the first year of
life. It is most common at 3 months of age

Risk factors
prematurity
parental smoking
hyperthermia (e.g. over­wrapping)
putting the baby to sleep prone
male sex
multiple births
bottle feeding
social classes IV and V
maternal drug use
incidence increases in winter

Following a cot death siblings should be screened for potential sepsis and inborn
errors of metabolism
Tetanus: vaccination

The tetanus vaccine is a cell­free purified toxin that is normally given as part of a
combined vaccine.

Tetanus vaccine is currently given in the UK as part of the routine immunisation


schedule at:
2 months
3 months
4 months
3­5 years
13­18 years

This therefore provides 5 doses of tetanus­containing vaccine. Five doses is now


considered to provide adequate long­term protection against tetanus.

Intramuscular human tetanus immunoglobulin should be given to patients with high­


risk wounds (e.g. Compound fractures, delayed surgical intervention, significant
degree of devitalised tissue) irrespective of whether 5 doses of tetanus vaccine have
previously been given

If vaccination history is incomplete or unknown then a dose of tetanus vaccine should


be given combined with intramuscular human tetanus immunoglobulin for high­risk
wounds
Tetralogy of Fallot

Tetralogy of Fallot (TOF) is the most common cause of cyanotic congenital heart
disease*. It typically presents at around 1­2 months, although may not be picked up
until the baby is 6 months old

TOF is a result of anterior malalignment of the aorticopulmonary septum. The four


characteristic features are:
ventricular septal defect (VSD)
right ventricular hypertrophy
right ventricular outflow tract obstruction, pulmonary stenosis
overriding aorta

The severity of the right ventricular outflow tract obstruction determines the degree of
cyanosis and clinical severity

Other features
cyanosis
causes a right­to­left shunt
ejection systolic murmur due to pulmonary stenosis (the VSD doesn't usually
cause a murmur)
a right­sided aortic arch is seen in 25% of patients
chest x­ray shows a 'boot­shaped' heart, ECG shows right ventricular
hypertrophy

Management
surgical repair is often undertaken in two parts
cyanotic episodes may be helped by beta­blockers to reduce infundibular
spasm

*however, at birth transposition of the great arteries is the more common lesion as
patients with TOF generally present at around 1­2 months
Threadworms

Infestation with threadworms (Enterobius vermicularis, sometimes called pinworms) is


extremely common amongst children in the UK. Infestation occurs after swallowing
eggs that are present in the environment.

Threadworm infestation is asymptomatic in around 90% of cases, possible features


include:
perianal itching, particularly at night
girls may have vulval symptoms

Diagnosis may be made by the applying Sellotape to the perianal area and sending it
to the laboratory for microscopy to see the eggs. However, most patients are treated
empirically and this approach is supported in the CKS guidelines.

Management
CKS recommend a combination of anthelmintic with hygiene measures for all
members of the household
mebendazole is used first­line for children > 6 months old. A single dose is
given unless infestation persists
Tongue­tie

Tongue­tie is also known as ankyloglossia. It is a congenital anomaly characterised by


an abnormally short, thick, lingual frenulum which prevents the tip of the tongue
protruding beyond the lower incisor teeth. It varies in degree of severity from mild
cases where the tongue is bound only by a thin mucous membrane, to a more severe
form in which the tongue is tethered to the floor of the mouth.

Many tongue ties are asymptomatic and milder forms can be managed with
breastfeeding advice and counselling, massaging the frenulum, and exercising the
tongue. However, tongue­tie can cause significant problems with breastfeeding, along
with speech and oral hygiene problems in later life. A tethered tongue is prevented
from contacting the anterior palate, which hampers the progression to an adult­like
swallow leading to open bite deformity and mandibular prognathism.

Thus many clinicians advocate early surgical division, allowing mother to continue
breast feeding and prevent future speech, swallowing and feeding problems.

Frenotomy is carried out using sharp, blunt­ended scissors to divide the lingual
frenulum. If performed in early infancy is usually performed without anaesthesia
(although local anaesthetic is sometimes used). In an older infants and children,
general anaesthesia is usually required.
Transient tachypnoea of the newborn

Transient tachypnoea of the newborn (TTN) is the commonest cause of respiratory


distress in the newborn period. It is caused by delayed resorption of fluid in the lungs

It is more common following Caesarean sections, possibly due to the lung fluid not
being 'squeezed out' during the passage through the birth canal

Chest x­ray may show hyperinflation of the lungs and fluid in the horizontal fissure

Supplementary oxygen may be required to maintain oxygen saturations. Transient


tachypnoea of the newborn usually settles within 1­2 days
Turner's syndrome

Turner's syndrome is a chromosomal disorder affecting around 1 in 2,500 females. It


is caused by either the presence of only one sex chromosome (X) or a deletion of the
short arm of one of the X chromosomes. Turner's syndrome is denoted as 45,XO or
45,X

Features
short stature
shield chest, widely spaced nipples
webbed neck
bicuspid aortic valve (15%), coarctation of the aorta (5­10%)
primary amenorrhoea
cystic hygroma (often diagnosed prenatally)
high­arched palate
short fourth metacarpal
multiple pigmented naevi
lymphoedema in neonates (especially feet)

There is also an increased incidence of autoimmune disease (especially autoimmune


thyroiditis) and Crohn's disease
Umbilical hernia in children

Umbilical hernia are relatively common in children and may be found during the
newborn exam. Usually no treatment is required as they typically resolve by 3 years of
age

Associations
Afro­Caribbean infants
Down's syndrome
mucopolysaccharide storage diseases
Undescended testis

Undescended testis occurs in around 2­4% of term male infants., but is much more
common if the baby is preterm. Around 25% of cases are bilateral

Complications of undescended testis


infertility
torsion
testicular cancer
psychological

Management
orchidopexy: referral should be considered from around 6 months of age.
Surgical practices vary although the majority of procedures are performed at
around 1 year of age
Urinary tract infection in children: features,
diagnosis and management

Urinary tract infections (UTI) are more common in boys until 3 months of age (due to
more congenital abnormalities) after which the incidence is substantially higher in
girls. At least 8% of girls and 2% of boys will have a UTI in childhood

Presentation in childhood depends on age:


infants: poor feeding, vomiting, irritability
younger children: abdominal pain, fever, dysuria
older children: dysuria, frequency, haematuria
features which may suggest an upper UTI include: temperature > 38ºC, loin
pain/tenderness

NICE guidelines for checking urine sample in a child


if there are any symptoms or signs suggestive or a UTI
with unexplained fever of 38�C or higher (test urine after 24 hours at the
latest)
with an alternative site of infection but who remain unwell (consider urine test
after 24 hours at the latest)

Urine collection method


clean catch is preferable
if not possible then urine collection pads should be used
cotton wool balls, gauze and sanitary towels are not suitable
invasive methods such as suprapubic aspiration should only be used if non­
invasive methods are not possible

Management
infants less than 3 months old should be referred immediately to a paediatrician
children aged more than 3 months old with an upper UTI should be considered
for admission to hospital. If not admitted oral antibiotics such as cephalosporin
or co­amoxiclav should be given for 7­10 days
children aged more than 3 months old with a lower UTI should be treated with
oral antibiotics for 3 days according to local guidelines, usually trimethoprim,
nitrofurantoin, cephalosporin or amoxicillin. Parents should be asked to bring
the children back if they remain unwell after 24­48 hours
antibiotic prophylaxis is not given after the first UTI but should be considered
with recurrent UTIs
Urinary tract infection in children: investigation

In contrast to adults, the development of a urinary tract infection (UTI) in childhood


should prompt consideration of a possible underlying causes and damage to the
kidneys (renal scarring)

NICE guidelines for imaging the urinary tract


infants < 6 months who present with a first UTI which responds to treatment
should have an ultrasound within 6 weeks
children > 6 months who present with a first UTI which responds to treatment
do not require imaging unless there are features suggestive of an atypical
infection (see below) or recurrent infection

Features of suggestive of an atypical infection


seriously ill
poor urine flow
abdominal or bladder mass
raised creatinine
septicaemia
failure to respond to treatment with suitable antibiotics within 48 hours
infection with non­E. coli organisms

Possible further investigations


urine for microscopy and culture: urine should be sent for culture as only 50%
of children with a UTI have pyuria. Microscopy or dipstick of the urine is
therefore inadequate for diagnosis
static radioisotope scan (e.g. DMSA): identifies renal scars. Should be done 4­6
months after initial infection
micturating cystourethrography (MCUG): identifies vesicoureteric reflux. Only
recommended for infants younger than 6 months who present with atypical or
recurrent infections
Vaccinations

It is important to be aware of vaccines which are of the live­attenuated type as these


may pose a risk to immunocompromised patients. The main types of vaccine are as
follows:

Live attenuated
BCG
measles, mumps, rubella (MMR)
influenza (intranasal)
oral rotavirus
oral polio
yellow fever
oral typhoid*

Inactivated preparations
rabies
influenza (intramuscular)

Detoxified exotoxins
tetanus

Extracts of the organism/virus (sometimes termed fragment)**


diphtheria
pertussis ('acellular' vaccine)
hepatitis B
meningococcus, pneumococcus, haemophilus

Notes
influenza: different types are available, including whole inactivated virus, split
virion (virus particles disrupted by detergent treatment) and sub­unit (mainly
haemagglutinin and neuraminidase)
cholera: contains inactivated Inaba and Ogawa strains of Vibrio cholerae
together with recombinant B­subunit of the cholera toxin
hepatitis B: contains HBsAg adsorbed onto aluminium hydroxide adjuvant and is
prepared from yeast cells using recombinant DNA technology

*whole cell typhoid vaccine is no longer used in the UK

**may also be produced using recombinant DNA technology


Vesicoureteric reflux

Vesicoureteric reflux (VUR) is the abnormal backflow of urine from the bladder into the ureter and
kidney. It is relatively common abnormality of the urinary tract in children and predisposes to
urinary tract infection (UTI), being found in around 30% of children who present with a UTI. As
around 35% of children develop renal scarring it is important to investigate for VUR in children
following a UTI

Pathophysiology of VUR
ureters are displaced laterally, entering the bladder in a more perpendicular fashion than at
an angle
therefore shortened intramural course of ureter
vesicoureteric junction cannot therefore function adequately

The table below summarises the grading of VUR

Grade

I Reflux into the ureter only, no


dilatation

II Reflux into the renal pelvis on


micturition, no dilatation

III Mild/moderate dilatation of the ureter,


renal pelvis and calyces

IV Dilation of the renal pelvis and calyces


with moderate ureteral tortuosity

V Gross dilatation of the ureter, pelvis


and calyces with ureteral tortuosity

Investigation
VUR is normally diagnosed following a micturating cystourethrogram
a DMSA scan may also be performed to look for renal scarring
Vision testing in children

A newborn's visual acuity is only about 6/200. This improves to 6/60 at 3 months but does no
reach adult levels until about 2 years of age.

The table below summarises the vision tests which may be performed when assessing children:

Age Test

Birth Red reflex

6 Fix and follow to 90 degrees (e.g.


weeks Red ball 90cm away)

3 Fix and follow to 180 degrees


months No squint

12 Can pick up 'hundreds and


months thousands' with pincer grip

>3 Letter matching test


years

>4 Snellen charts


years Ishihara plates for colour vision
Vitamin D supplementation

Vitamin D supplementation has been a hot topic for a number of years now. The
muddied waters are now slightly clearer following the release of the following:
2012: letter by the Chief Medical Officer regarding vitamin D supplementation
2013: National Osteoporosis Society (NOS) release UK Vitamin D guideline

The following groups should be advised to take vitamin D supplementation:


all pregnant and breastfeeding women should take a daily supplement
containing 10�g of vitamin D
all children aged 6 months ­ 5 years. Babies fed with formula milk do not need
to take a supplement if they are taking more than 500ml of milk a day, as
formula milk is fortified with vitamin D
adults > 65 years
'people who are not exposed to much sun should also take a daily supplement'

Testing for vitamin D deficiency

The key message is that not many people warrant a vitamin D test. The NOS
guidelines specify that testing may be appropriate in the following situtations:
patients with bone diseases that may be improved with vitamin D treatment e.g.
known osteomalacia or Paget's disease
patients with bone diseases, prior to specific treatment where correcting vitamin
deficiency is appropriate e,g, prior to intravenous zolendronate or denosumab
patients with musculoskeletal symptoms that could be attributed to vitamin D
deficiency e.g. bone pain ?osteomalacia

Patients with osteoporosis should always be given calcium/vitamin D supplements to


testing is not considered necessary. People who are at higher risk of vitamin D
deficiency (see above) should be treated anyway so again testing is not necessary.
Vitamin supplementation in children

The Department of Health advises that all children should be given supplemental
vitamins A, C and D from age 6 months to 5 years (unless they are taking more than
500ml of infant formula per day, as this is fortified with vitamins). The supplements are
given as drops which can be bought over the counter; some children are eligible for
free drops under the Healthy Start scheme ­ the Health Visitor can advise.

Low birthweight babies may be advised to commence supplementation from a


younger age by the paediatric team.

Source: NHS choices


http://www.nhs.uk/conditions/pregnancy­and­baby/pages/vitamins­for­
children.aspx#close
Whooping cough (pertussis)

Overview
caused by the Gram negative bacteriumBordetella pertussis
incubation period = 10­14 days
infants are routinely immunised at 2, 3, 4 months and 3­5 years. Newborn
infants are particularly vulnerable, which is why the vaccincation campaign for
pregnant women was introduced
neither infection nor immunisation results in lifelong protection ­ hence
adolescents and adults may develop whooping cough despite having had their
routine immunisations
around 1,000 cases are reported each year in the UK

Features, 2­3 days of coryza precede onset of:


coughing bouts: usually worse at night and after feeding, may be ended by
vomiting & associated central cyanosis
inspiratory whoop: not always present (caused by forced inspiration against a
closed glottis)
persistent coughing may cause subconjunctival haemorrhages or even anoxia
leading to syncope & seizures
symptoms may last 10­14 weeks* and tend to be more severe in infants
marked lymphocytosis

Diagnosis
per nasal swab culture for Bordetella pertussis ­ may take several days or
weeks to come back
PCR and serology are now increasingly used as their availability becomes more
widespread

Management
oral erythromycin to eradicate the organism and reduce spread
has not been shown to alter the course of the illness

Complications
subconjunctival haemorrhage
pneumonia
bronchiectasis
seizures

Vaccination of pregnant women

In 2012 there was an outbreak of whooping cough (pertussis) which resulted in the
death of 14 newborn children. As a temporary measure a vaccination programme was
introduced in 2012 for pregnant women. This has successfully reduced the number of
cases of whooping cough (the vaccine is thought to be more than 90% effective in
preventing newborns developing whooping cough). It was however decided in 2014 to
extend the whooping cough vaccination programme for pregnant women. This
decision was taken as there was a 'great deal of uncertainty' about the timing of future
outbreaks.

Women who are between 28­38 weeks pregnant will be offered the vaccine.

*weeks, not days


Wilms' tumour

Wilms' nephroblastoma is one of the most common childhood malignancies. It typically


presents in children under 5 years of age, with a median age of 3 years old.

Features
abdominal mass (most common presenting feature)
painless haematuria
flank pain
other features: anorexia, fever
unilateral in 95% of cases
metastases are found in 20% of patients (most commonly lung)

Associations
Beckwith­Wiedemann syndrome
as part of WAGR syndrome with Aniridia, Genitourinary malformations, mental
Retardation
hemihypertrophy
around one­third of cases are associated with a loss­of­function mutation in the
WT1 gene on chromosome 11

Management
nephrectomy
chemotherapy
radiotherapy if advanced disease
prognosis: good, 80% cure rate

© Image used on license from PathoPic

Histological features include epithelial tubules, areas of necrosis,


immature glomerular structures, stroma with spindle cells and small cell
blastomatous tissues resembling the metanephric blastema
X­linked dominant

The following conditions are inherited in a X­linked dominant fashion*:

Alport's syndrome (in around 85% of cases ­ 10­15% of cases are inherited in an
autosomal recessive fashion with rare autosomal dominant variants existing)
Rett syndrome
Vitamin D resistant rickets

*pseudohypoparathyroidism was previously classified as an X­linked dominant


condition but has now been shown to be inherited in an autosomal dominant fashion
in the majority of cases
X­linked recessive

In X­linked recessive inheritance only males are affected. An exception to this seen in
examinations are patients with Turner's syndrome, who are affected due to only
having one X chromosome. X­linked recessive disorders are transmitted by
heterozygote females (carriers) and male­to­male transmission is not seen. Affected
males can only have unaffected sons and carrier daughters.

Each male child of a heterozygous female carrier has a 50% chance of being affected
whilst each female child of a heterozygous female carrier has a 50% chance of being
a carrier.

The possibility of an affected father having children with a heterozygous female carrier
is generally speaking extremely rare. However, in certain Afro­Caribbean communities
G6PD deficiency is relatively common and homozygous females with clinical
manifestations of the enzyme defect are seen.
X­linked recessive conditions

The following conditions are inherited in a X­linked recessive fashion:

Androgen insensitivity syndrome


Becker muscular dystrophy
Colour blindness
Duchenne muscular dystrophy
Fabry's disease
G6PD deficiency
Haemophilia A,B
Hunter's disease
Lesch­Nyhan syndrome
Nephrogenic diabetes insipidus
Ocular albinism
Retinitis pigmentosa
Wiskott­Aldrich syndrome

The following diseases have varying patterns of inheritance, with the majority being in
an X­linked recessive fashion:

Chronic granulomatous disease (in > 70%)

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