CELLULAR and CHROMOSOMAL ABERRATIONS
cellulitis, urinary tract infection, and cellulitis, which are common in leukemia and
CELLULAR ABERRATIONS - an alteration in the cellular structures and functions
Neoplasm – means new growth, it usually refers to a new abnormal growth that does
not respond to normal growth-control mechanisms. Assessing Children with Cancer -
Any suspicion of a malignancy requires a thorough physical examination. - Assessing
weight and height of children is an important component.
General Symptoms: Unexplained weight loss, Fever, Fatigue, Pain, Skin changes.
Biopsy – surgical removal of tissue or cells for laboratory evaluation and analysis and
Tumor staging – documents the extent and progress of malignant tumor.
Treatment includes: Radiation – changes the DNA component of a cell nucleus to a
point at which the cell cannot replicate DNA material and thereby inhibits further cell
division and growth and Chemotherapy – a chemotherapeutic agent is one that is
capable of destroying malignant cells; they have differing mechanisms used to
ensure maximal tumor cell death.
Cancers in children and adolescents
LEUKEMIA
Acute Lymphoblastic Leukemia - Type of cancer that affects the bone marrow and
the production of red blood cells and lymphocytes.
Symptoms include: Anemia, Low platelet count, Abdominal pain, vomiting, anorexia,
and Elevated leukocyte count.
Blood tests – may reveal too many or too few white blood cells, not enough red blood
cells, and not enough platelets; may also show the presence of blast cells. Bone
marrow test – a needle is used to remove a sample of bone marrow from the
hipbone or breastbone.
Induction therapy – to kill most of the leukemia cells in the blood and bone marrow
and to restore normal blood cell production, Consolidation therapy – aimed at
destroying any remaining leukemia in the body, Maintenance therapy – prevents
leukemia cells from regrowing; lower doses over a long period of time, often years.
Nsg Dx: Bleeding risk due to diminished platelet production
Frequently monitor the client for pneumonia, pharyngitis, esophagitis, perianal
which carry significant morbidity and mortality. ii. Monitor for fever, flushed
appearance, chills, tachycardia; appearance of white patches in the mouth; redness,
swelling, heat or pain in the eyes, ears, throat, skin, joints, abdomen, rectal and
perineal areas; cough, changes in sputum; skin rash. iii. Avoid invasive procedures
and trauma to skin or mucous membrane to prevent entry of microorganisms. iv.
Care for the patient in private room with strict handwashing practice.
LYMPHOMA
Hodgkin disease - Lymphocytes proliferate in the lymph glands and Reed-Sternberg
cells develop. The symptoms include i. Enlargement of only one painless, enlarged,
rubbery lymph node ii. Anorexia iii. Malaise.
Biopsy of lymph nodes – detects characteristic Reed Sternberg giant cell, helping to
confirm diagnosis ii. Chest and abdominal CT scan – will reveal enlarged mediastinal
nodes and lymph nodes of abdomen iii. Bone marrow analysis
Medical Management for this: i. Combination chemotherapy ii. Radiation therapy iii.
Immunotherapy.
Risk for powerlessness related to fear of disease recurrence the Nursing
management is: i. To protect the skin receiving radiation, avoid rubbing, powders,
deodorants, lotions, or ointments (unless prescribed) or application of heat or cold. ii.
Encourage patient to keep clean and dry, and to bathe the area affected by radiation
gently with tepid water and mild soap. iii. Encourage wearing loose fitting clothes and
to protect skin from exposure to sun, chlorine, and temperature extremes.
NEUROBLASTOMA - Tumors that arise from neuroectodermal cells of the
sympathetic nervous system. The Symptoms include: Weight loss, Constipation,
Anorexia, Excessive sweating, Flushed face, Hypertension and Abdominal pain.
Treatments are: Surgical removal of primary tumor and Chemotherapy
combinations.
Use extreme caution when handling or bathing the client to prevent trauma to the
tumor site; Assess the child’s and family’s coping and support; Assess for
developmental delays related to illness; Assess physical growth (height and weight).
Provide education.
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CHROMOSOMAL ABERRATIONS - chromosomal disorders that result from
mistakes during mitosis and meiosis cell division processes.
Trisomy 13 Syndrome - Also called as Patau syndrome. The Child has an extra
chromosome 13 and is severely cognitively challenged. Symptoms include: i. Cleft lip
and palate ii. Heart disorders (ventricular septal defects) iii. Abnormal genitalia (small
penis or enlarged clitoris) iv. Microcephaly with disorders of the forebrain and
forehead v. Microphthalmos.
Trisomy 18 Syndrome - Also called as Edwards syndrome. Child has 3 copies of
chromosome 18.
Cri-Du-Chat Syndrome - Also called as cat’s cry. Result of a missing portion of
chromosome 5.
Turner Syndrome - Also called as gonadal dysgenesis or congenital ovarian
hypoplasia syndrome. Child only has one functional X chromosome.
Klinefelter Syndrome a Child has two X chromosomes and a Y chromosome
Fragile X Syndrome - Also known as Martin-Bell syndrome. An X-linked disorder in
which one long arm of an X chromosome is defective, which results in inadequate
protein synaptic responses.
Trisomy 21 - Also called as down syndrome. Most frequently occurring chromosomal
disorder. A genetic disorder caused when abnormal cell division results in an extra
full or partial copy of chromosome 21.
SKELETAL DISORDERS
POLYDACTYLY
 Polydactyly is the presence of one or more additional fingers or toes. When an
entire extra finger or toe forms, the supernumerary digit is usually amputated in
infancy or early childhood. These extra fingers are often just cartilage or skin
tags, and removal is simple and cosmetically sound. The most common cause is
possibly due to the result of an intrauterine deformation. It is likely to occur in
scenarios that are associated with limited intrauterine.
Genetic factor was the leading cause on the development of polydactyly and
syndactyly. In addition, environmental factors, such as family economic condition,
nutritional status during early pregnancy and working condition before pregnancy
were associated with the development of polydactyly and syndactyly.
The main symptom of polydactyly is an extra finger or toe. The condition can
range from a small extra bump on the side of the hand to a finger that widens to
end in two fingertips, an extra finger that dangles by a thin cord from the hand or
a hand that has a thumb and five fingers.
To diagnose polydactyly, the physician will perform a physical examination and
discuss the symptoms with patients and their families. The physician will look for
symptoms of other conditions that may be causing the polydactyly. X-rays are
used to see the bone structure of the hand or foot in order to determine how the
extra digit is attached. Blood tests may also be performed to screen for genetic
conditions.
Patient evaluation requires in-depth history, physical examination, and
radiographs to assign classification and guide surgical planning. Imaging and
subsequent classification assignment, in particular, are crucial given the strong
association between Wassel-Flatt type and outcome prognosis. Three-
dimensional ultrasound has been proposed as a potential aid in the evaluation
process given its ability to observe possible underlying muscular and vascular
abnormalities but is not first-line imaging and more suited for supplemental
imaging.
Polydactyly is usually treated in early childhood with the removal of the extra
finger or toe. If the extra digit is not attached by any bones, a vascular clip may
be used to remove it. The vascular clip attaches to the extra digit and cuts off
blood flow to it. After a short time, the extra digit will fall off similar to how a
newborn baby's belly button stump comes off.
TORTICOLLIS (WRY NECK) - occurs as a congenital anomaly when the
sternocleidomastoid muscle is injured and bleeds during birth (Ryu, Kim, Kim, et al.,
2016). This tends to occur in newborns with wide shoulders when pressure is
exerted on the head to deliver the shoulder either with a vaginal or cesarean birth. •
The head tilts to one side, and the chin points to the opposite shoulder. In
75% of babies with torticollis, the muscle on the right side of the neck is affected. The
most common imaging modality is ultrasonography, especially in the neonatal period.
Magnetic resonance imaging (MRI) can be useful to rule out no muscular causes of
torticollis. To relieve torticollis, parents need to begin a program of passive stretching
exercises and therapy, laying the infant on a flat surface and rotating the head
through a full range of motion.
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TALIPES DISORDERS - are ankle–foot disorders, popularly called clubfoot. The
term “clubfoot” implies permanent crippling to many people, and because this is no
longer true with effective surgery, avoid using the term when discussing talipes
disorders with parents. Family history. If either of the parents or their other children
have had clubfoot, the baby is more likely to have it as well. Most commonly, a
doctor recognizes clubfoot soon after birth just from looking at the shape and
positioning of the newborn's foot.
DEVELOPMENTAL DYSPLASIA OF THE HIP - improper formation and function of
the hip socket and is considered a spectrum of abnormalities affecting the hip joint.
The following are the risk factors for DDH include female sex, first-born infant,
breech positioning in the third trimester, swaddling, postmaturity. Ideally, DDH is
detected by routine history and physical exam in the neonatal period. Questions to
the parents regarding risk factors can be important. Clinical screening is the gold
standard for diagnosis with dynamic hip examinations carried out at birth and at
subsequent pediatrician visits throughout childhood. All infants should be screened
for DDH from birth and up until 3 months of age by performing the Ortolani & Barlow
maneuver (Shaw & Segal, 2016). Current recommendations from American
Academy of Orthopaedic Surgeons and the AAP (2017) suggest close monitoring in
mild DDH cases because 60% to 80% of clinically identified abnormalities and 90%
of ultrasonographic abnormalities spontaneously resolve without treatment in early
infancy (Mulpuri et al., 2015). In contrast, severe DDH may adversely affect normal
hip growth and development and may cause issues into adulthood, such as
osteoarthritis of the hip (Shaw & Segal, 2016).
Alterations in Nutrition and Metabolism, Gastrointestinal
Tongue-tie - (ankyloglossia) is a congenital condition in which the lingual frenulum is
abnormally short and may restrict mobility of the tongue. Tongue cannot extend
beyond the baby’s lips.
Frenotomy - is the procedure in which the lingual frenulum is cut. It is done when the
frenulum seems unusually short or tight (anklyoglossia or "tongue-tie").
Cleft Lip & Cleft Palate
Cleft lip - happens when the tissues that make the lips don't join completely. As a
result, an opening or gap forms between the two sides of the upper lip.
Cleft palate - is a split or opening in the roof of your mouth that forms during fetal
development.
Cleft lip repair- To close the separation in the lip, the surgeon makes incisions on
both sides of the cleft and creates flaps of tissue and Ear tube surgery - For children
with cleft palate, ear tubes may be placed to reduce the risk of chronic ear fluid,
which can lead to hearing loss.
Umbilical Hernia - An umbilical hernia is an abnormal bulge that can be seen or felt
at the umbilicus (belly button). Medical Management: ● Most umbilical hernias will
resolve within 2 years, and treatment ● Suture repair and mesh
Omphalocele - also known as exomphalos, is a congenital (present at birth)
abnormality in which the organs of the abdomen stick out through an opening in
muscles in the area of the umbilical cord. Many omphaloceles are diagnosed by
prenatal sonogram. It may also be revealed by an elevated maternal serum
αfetoprotein (MSAFP) examination during pregnancy.
Kwashiorkor - a disease caused by protein deficiency, occurs most frequently in
children ages 1 to 3 years, because this age group requires a high protein intake.
Measuring the child’s weight-toheight ratio and height-to-age and score them
according to various charts.
Marasmus - a disease caused by protein deficiency, occurs most frequently in
children ages 1 to 3 years, because this age group requires a high protein intake.
Physical examination to observe its telltale physical features, the primary one being
the visible wasting of fat and muscle. A complete blood count can also help reveal
any infections or diseases that may have contributed to or resulted from marasmus.
Ideally, people with marasmus should be treated in a hospital setting, under close
medical supervision. Healthcare providers who are trained to anticipate and
recognize refeeding syndrome can help prevent or correct it by supplementing
missing electrolytes and micronutrients.
Indirect hernia - is a protrusion of a section of the bowel into the inguinal ring. - It
occurs usually in boys because, as the testes descend from the abdominal cavity
into the scrotum late in fetal life, a fold of parietal peritoneum also descends, forming
a tube from the abdomen to the scrotum. Through a physical examination. ○
Healthcare providers look for a bulge in the child’s groin or scrotum while they’re
crying or straining. They’ll determine if it goes away while the child is relaxed. Main
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symptom: a bulge you can see under the skin in their groin or scrotum. Treatment of
inguinal hernia is laparoscopy surgery.
CELIAC DISEASE - an immune-mediated abnormal response to gluten, the protein
in wheat, and related proteins in rye, barley and possibly oats, in a genetically
susceptible individual.
Serum analysis of antibodies against gluten (endomysial antibody, tissue
transglutaminase is obtained). Continue the gluten-free diet for life because there is
an associated slightly increased risk of malignancy in those who are diagnosed with
celiac disease as adults. Correction of any vitamin and mineral deficiencies may be
necessary.
APPENDICITIS - Inflammation of the appendix - Fecal material apparently enters the
appendix, hardens, and obstructs the appendiceal lumen. The point of sharpest pain
is often one third of the way between the anterior superior iliac crest and the
umbilicus (McBurney’s point). To assist in a diagnosis of a painful abdomen, always
palpate the anticipated tender area last. Administer fluids intravenously to prevent
dehydration and Position right-side lying or low to semi fowler position to promote
comfort.
NECROTIZING ENTEROCOLITIS - a common disease of the intestinal tract in
which the tissue lining in the intestine becomes inflamed, dies, and can slough off -
The wall of the intestine is invaded by bacteria, which cause local infection and
inflammation that can ultimately destroy the wall of the bowel (intestine). Signs of
blood loss because of intestinal bleeding, such as lowered blood pressure.
Alterations in Nervous System
Hydrocephalus - The term hydrocephalus is derived from the Greek words “hydro”
meaning water and “cephalus” meaning head. As the name implies, it is a condition
in which the primary characteristic is excessive accumulation of fluid in the brain.
Infants show symptoms of increased intracranial pressure, such as
decreased pulse and respirations, increased temperature and blood
pressure, hyperactive reflexes, strabismus, and optic atrophy. A shunt
drains excess cerebrospinal fluid from the brain to another part of the body,
such as the abdomen, where it can be more easily absorbed. Lumbar
Puncture - A procedure where a sample of cerebrospinal fluid is taken from
your lower spine.
Febrile Seizures -Seizures associated with high fever (102° to 104° F
[38.9° to 40.0° C]) are the most common type seen in preschool
children (5 months to 5 years), although these can occur as early as 3
months or as late as 7 years of age. A child having a febrile seizure
shakes all over and loses consciousness. Sometimes, the child may
get very stiff or twitch in just one area of the body. Monitor the child’s
temperature (tympanic or rectal temperature). Assess for hydration
status. The MEDICAL MANAGEMENT: Benzodiazepine.
Antipyretics. Giving your child infants' or children's acetaminophen
(Tylenol, others) or ibuprofen (Advil, Motrin, others) at the
beginning of a fever may make your child more comfortable, but it
won't prevent a seizure.
Neural Tube Disorders/ Defect
Spina bifida is part of a group of birth defects called neural tube defects. Caused by
a defect in the neural arch generally in the lumbosacral region, spina bifida is a
failure of the posterior laminae of the vertebrae to close; this leaves an opening
through which the spinal meninges and spinal cord may protrude. Traditional spina
bifida treatment takes the form of surgical repair 24 to 48 hours after birth. Your child
will undergo general anesthesia.
ANENCEPHALY
- Anencephaly is a serious birth defect in which a baby is born without parts of the
brain and skull. It is a type of neural tube defect (NTD). There is an Absence of bony
covering over the back of the head, Missing bones around the front and sides of the
head and there is Folding of the ears.
BACTERIAL MENINGITIS
- Meningitis is, as the name implies, infection of the cerebral meninges. It tends to
occur most frequently in children younger than 24 months of age and most often in
winter.
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Symptoms of meningitis develop suddenly and can include: a high temperature
(fever), being sick and a headache. MEDICAL MANAGEMENT : Crystalloid infusion,
Seizure precautions and IVT and oxygen administration.
ALTERATIONS IN PERCEPTION AND COORDINATION AND MENTAL HEALTH
COGNITIVE CHALLENGE - Is also known as Intellectual disability.
“significant subaverage” that is at least two or more standard deviations
below individual peers’ average level. Some causes that occur during birth
include hypoxia, and extreme prematurity.
Mild Intellectual Disability - Children exhibit difficulties in acquisition
of academic skills and are typically more concrete in their problem
solving.
o Moderate Intellectual Disability - Language and preacademic skills
develop slowly during preschool age, and continue to advance slowly
through school, typically peaking with academic skills at the
elementary level.
Severe Intellectual Disability - Develop a limited understanding of
language and academic skills, with minimal acquisition of
communicative speech, such as with single words and phrases, or
augmented means.
Profound Intellectual Disability - Demonstrate only minimal capacity
for sensorimotor functioning and are nonverbal and nonsymbolic in
communication.
Individualized Intellectual Quotient (IQ) testing, culturally sensitive standardized
measures, and careful clinical evaluation and judgement. IQ testing assesses
intellectual function and clinical evaluation assesses adaptive functioning. Encourage
parents to seek early intervention, education, and support in their community through
involvement in support groups, parent education, and agencies like The Arc.
PERVASIVE DEVELOPMENTAL DISORDERS - Is now known as AUTISM
SPECTRUM DISORDER. It was changed in 2013 when the American Psychiatric
Association updated the DSM (Diagnostic and Statistical Manual of Mental
Disorders) to its fifth edition. ASD is characterized by difficulties in three main areas:
social deficits, communication issues, and restricted behaviors, with onset in
the early developmental stages, that impair everyday functioning. Deficits in social
communication and interaction may include deficits in social-emotional reciprocity,
deficits in nonverbal communicative behaviors, and deficits in understanding
relationships. o Primary treatment includes educational, compensatory, and
behavior modalities, such as the evidence-based applied behavior analysis (ABA)
treatment based on the associations between behavior and learning.
ADHD (Attention Deficit Hyperactivity Disorder) Is one of the most common
neurobiologic conditions in childhood that can also persist into adulthood.
Symptoms: inattention, hyperactivity, and impulsivity that can create an
impairment in functioning.
They may not show the normal responses of graphesthesia (the ability to recognize
symbols when they're traced on the skin) or stereognosis. A stable learning
environment: a child with ADHD may benefit educational accommodations provided
under the federally mandated 504 plan which includes: preferential seating, extended
time for test taking, written lists of assignments and due dates, and note-taking
support.
PTSD (Posttraumatic Stress Disorder) - It occurs in children who have
experienced or witnessed a traumatic event (child abuse, neglect, domestic violence,
a natural disaster, a harrowing accident, or a near-fatal illness) - Diagnostic criterion:
symptoms that occur 1 month following the initial event. Symptoms: Children
continue to have recurring recollections or dreams of the event or demonstrate
intense psychological symptoms, if a reminder of the initiating event occurs
Structured Clinical Interview for DSM (SCID). The SCID can be used to assess a
range of mental health disorders including PTSD. Administer or assist in the
administration of primary PTSD therapies and treatments. PTSD symptoms can be
treated with any of multiple types of medications, including antidepressants and anti-
anxiety drugs.
OPPOSITIONAL DEFIANT DISORDERS - a condition in which a child displays an
ongoing pattern of uncooperative, defiant, hostile, and annoying behavior towards
people in authority. Familial Factor o Familial influences on child development may
be genetically linked, attributed to conflict in the family home or based on parent-
child interactions. Assessing physical or other mental health issue that may cause
problems with behaviors. Medication may be an additional component to
psychosocial treatment of the symptoms of aggressive behavior and to treat
comorbid conditions. The nurse identifies what is not appropriate, such as profanity
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and name calling, and also what is appropriate; positive feedback is essential to let
clients know they are meeting expectations.

CONDUCT DISORDER - Are persistent antisocial acts that may involve violations of
personal rights or societal rules. A number of etiologic factors are suggested as the
cause of the disorder, including genetic predisposition, neurologic deficit correlates,
and sociologic factors related to poverty and cultural disadvantage. A repetitive and
persistent pattern of behavior in which the basic rights of others or major age-
appropriate societal norms or rules are violated. Children's medical, developmental,
psychological, and social history will be reviewed. Connors Continuous Performance
Test (CPT) CCPT is used to assess children's ability to sustain attention (i.e., to
continuously focus on a single task) and also provides measurements of children's
tendency towards impulsiveness.
CHILDHOOD SCHIZOPHRENIA - Is characterized by illogical thoughts, abnormal
behavior and hallucinations. It is a devastating mental illness that most commonly
strikes in adolescence or young adulthood; onset prior to adolescence is rare.
Structured Clinical Interview (SCID), allows the clinician to delineate a diagnosis
through interview of the client and her parents. If left untreated, childhood
schizophrenia can result in severe emotional, behavioral and health problems.
Therapy with antipsychotic drugs is effective in reducing the children’s hallucinations
and abnormal thought process. Don’t touch client without telling him first what you
are going to do. Use an accepting, consistent approach; short, repeated contacts are
best until trust has been established.