GENETIC
PEDIATRIC
DISORDER
By :Mr. Abhijit P. Bhoyar
M. Sc. Nursing
GENERAL OBJECTIVES: At the end of the class student acquire in depth
knowledge regarding pediatric genetic disorder and
develop positive attitude and apply the knowledge
in the clinical area .
SPECIFIC OBJECTIVES
At the end of class student will be able to Define the genetic disorder
 Classify genetic disorder
 Discuss about the chromosomal abnormalities
 Describe the x- linked disorder
 Explain the autosomal Recessive disorder
 Describe the autosomal Dominant disorder
 Explain the multifactorial disorders congenital malformation
 Write the mitochondrial diseases
 Enlist role of nurse in genetic pediatric disorder
 Explain the role of the nurse in genetic counseling
INTRODUCTION: Genetics is the study of
heredity and its variation.
Many disorders of
childhood have a genetic
cause.
 According to the centers
for Disease Control and
Prevention , birth defects
and genetic disorders are a
significant cause of
morbidity and mortality in
infancy and childhood.
TERMINOLOGY Genetics:- The study of heredity and its variation
 Chromosomes :- The structure containing DNA that store
genetic information . There are 22 pairs of autosomes & one pair
of sex chromosome in every cell.
 Gene carry information for making all the protein required by all
organism
 Genome – the genome is the entire DNA in an organism
including its gene. The human genome has 3 billion pairs of bases
 DNA- The language of nature universal molecules. DNA is made
up of four similar chemicals called bases that is
A,T,C,G
A=Adenine ,T=Thymine , C=Cytosine ,
G=Guanine
DEFINITION OF GENETIC DISORDER
 Variation within the DNA sequence of a particular
gene affect its function & may cause or predispose an
individual a particular disease.
CLASSIFICATION OF GENETICS DISORDERS
• Down syndrome
• Klinfelter syndrome
• Patau’s syndrome
(Trisomy 13)
• Edwards syndrome
(Trisomy 18)
• Turner syndrome
• Cri du chat syndrome
SINGLE
CHROMOSOMAL
ABNORMALITIES
• A) X-LINKED
• Fragile X syndrome
• B) AUTOSOMAL
RECESSIVE
• Congenital adrenal
hyperplasia
• C) AUTOSOMAL
DOMINANT
• Retinoblastoma
GENE
DISORDER
MULTIFACTORIAL
DISORDERS
MITOCHONDRIAL
CONGENITAL
DISEASES
MALFORMATION
• Cleft lip with or cleft
palate
• Congenital heart defects
• Neural tube defect
• Mental Retardation
• Kaerns-Sayre syndrome
• Leber hereditary optic
neuropathy
• Mitochondrial
encephalopathy
• Myoclonic epilepsy
Down’s Syndrome (Mongolism)
Down’s syndrome is the commonest chromosomal disorder
and most identifiable cause of mental retardation.
A congenital condition characterized by a distinctive pattern of physical
characteristics including a flattened skull, pronounced folds of skin in the inner
corners of the eyes, large tongue, and short stature, and by some degree of
limitation of intellectual ability and social and practical skills. It usually arises
from a defect involving chromosome 21, usually an extra copy (trisomy-21)
Types
Trisomy-21
Translocation of
chromosome
• 95% of all cases
• 4% of all cases.
• There is total 47
• In this type total
chromosomes
number of
instead of 46
chromosome remains
normal(46) though
one is large and
atypical
Mosaicism (1%)
• It may occur rarely
• The affected child has
two numbers of
chromosome and other
cell line trisomic for the
number 21 chromosome
• It occurs due to post
conception error in
chromosomal division
during mitosis.
Clinical Manifestation
 Fattened occiput
 Brush field spots
 Small head
 Low set ears
 Flat facial profile
 Abnormally shaped ears
 Depressed nasal bridge
 Small mouth
and small nose
 Oblique palpebral fissure
 Protrusion of tongue,
tongue is larged compaired
to mouth size.
Contiii.
 Hands with broad , short
fingers
 A
single
 Hyper
flexibility
and
looseness of joints
deep
transverse
crease on the palm of the
hand
 Congenital heart defect
 Short neck, with excessive
skin at the nape.
 Dysplastic middle phalanx of
fifth finger
 Epicanthal folds
 Excessive space between large
and second toe.
 Hypotonia
SIGNS AND SYMPTOMS
Diagnosis test
 Amniocentesis
 Chorionic villus sampling(cvs),
 Percutaneous umbilical cord blood sampling(pubs)
Management
 There is no specific





management
Early childhood
intervention,
Screening for common
problems,
Medical treatment where
indicated,
Training for self care
speech therapy
 Vocational training
 Special Education .
 Plastic surgery has
sometimes been advocated
and performed on children
with Down syndrome, based
on the assumption that
surgery can reduce the facial
features associated with
Down syndrome,
Nursing management Prenatal counseling
 Teach the parent about routine care, long term care
 Prevention of accidental injury.
 Preventing infections by frequent hand washing,
 Maintaining general cleanliness giving eye care and mouth care.
 Providing adequate nutrition by offering small frequent feeing
and placing child in semi sitting position with elevation of head
during feeding.
 Promoting socialization, instructing the parent to allow the child
to perform normal life as possible with some restricted activities.
KLINEFELTER’S SYNDROME
 It
is a condition in which a human has an extra X
chromosome.
 While females have an XX chromosomal makeup, and
males an XY, affected individuals have at least two X
chromosomes and at least one Y chromosome.
 Because of the extra chromosome, individuals with the
condition are usually referred to as "XXY Males", or "47,
XXY Males".
Clinical Manifestation
 Weaker




muscles
and
reduced strength
Taller, have longer arms
and legs
Less muscle control and
coordination
Less muscular body
During
puberty,
the
physical traits of the
syndrome become more
evident
 Broader hips
 Larger breasts,
 Weaker bones
 A lower energy level than




other boys.
Sterile,
Shy and quiet
Higher incidence of speech
delay and dyslexia
Less facial and body hair
Diagnostic evaluation
 History and physical examonation
 The main tests used to diagnose Klinefelter syndrome are:
 Hormone testing. Blood or urine samples can reveal
abnormal hormone levels that are a sign of Klinefelter
syndrome.
 Chromosome analysis. Also called karyotype analysis,
this test is used to confirm a diagnosis of Klinefelter
syndrome. A blood sample is sent to the lab to check the
shape and number of chromosomes.
Management
Treatment for Klinefelter syndrome is based on signs and symptoms and may
include:
 Testosterone replacement therapy. Starting at the time of the usual onset
of puberty, testosterone replacement therapy can be given to help stimulate
changes that normally occur at puberty, such as developing a deeper voice,
growing facial and body hair, and increasing muscle mass and sexual desire
(libido). Testosterone replacement therapy can also improve bone density
and reduce the risk of fractures, and it may improve mood and behavior. It
will not improve infertility.
 Breast tissue removal. In males who develop enlarged breasts, excess breast
tissue can be removed by a plastic surgeon, leaving a more typical-looking
chest.
 Speech and physical therapy. These treatments can help
boys with Klinefelter syndrome who have problems with
speech, language and muscle weakness.
 Educational evaluation and support. Some boys with
Klinefelter syndrome have trouble learning and socializing
and can benefit from extra assistance. Talk to your child's
teacher, school counselor or school nurse about what kind
of support might help.
 Fertility treatment. Most men with Klinefelter syndrome are typically
unable to father children because few or no sperm are produced in the
testicles. For some men with minimal sperm production, a procedure
called intracytoplasmic sperm injection (ICSI) may help. During ICSI,
sperm is removed from the testicle with a biopsy needle and injected
directly into the egg.
 Psychological counseling. Having Klinefelter syndrome can be a
challenge, especially during puberty and young adulthood. For men
with the condition, coping with infertility can be difficult. A family
therapist, counselor or psychologist can help work through the
emotional issues.
Complication
 Klinefelter syndrome may increase the risk of:
 Anxiety and depression
 Social, emotional and behavioral problems, such as low
self-esteem, emotional immaturity and impulsiveness
 Infertility and problems with sexual function
 Weak bones (osteoporosis)
 Heart and blood vessel disease
Conti.
 Breast cancer and certain other cancers
 Lung disease
 Metabolic syndrome, which includes type 2 diabetes, high
blood pressure (hypertension), and high cholesterol and
triglycerides (hyperlipidemia)
 Autoimmune disorders such as lupus and rheumatoid
arthritis
 Tooth and oral problems that make dental cavities more
likely
 Autism spectrum disorder
PATAU SYNDROME
 Patau Syndrome, also called D-Syndrome or trisomy-13.
 Patau syndrome is a syndrome caused by a chromosomal
abnormality, in which some or all of the cells of the body
contain extra genetic material from chromosome 13.
The extra genetic material disrupts normal development,
causing multiple and complex organ defects.
Manifestations and physical findings
 Nervous system
 Mental and motor challenged
 Microcephaly
 Holoprosencephaly (failure of the forebrain to divide
properly).
 Structural eye defects, including microphthalmia, Peters
anomaly (a type of eye abnormality), cataract, iris
and/or funds (coloboma), retinal dysplasia or retinal
detachment, sensory nystagmus, cortical visual loss, and
optic nerve hypoplasia
 Meningomyelocele (a spinal defect)
Conti Musculoskeletal and
cutaneous
 Polydactyly (extra digits)
 Low-set ears
 Prominent heel
 Deformed feet known as 
rocker-bottom feet
 Omphalocele (abdominal
defect)
 Abnormal palm pattern
 Overlapping of fingers
over thumb
 Cutis aplasia (missing
portion of the skin/hair)
 Cleft palate
Urogenital
 Abnormal genitalia
 Kidney defects
PATUu SYNDROME
Treatment
 Treatment of Patau syndrome focuses on the particular physical
problems with which each child is born.
 Many infants have difficulty surviving the first few days or weeks
due to severe neurological problems or complex heart defects.
 Surgery may be necessary to repair heart defects or cleft lip and cleft
palate.
 Physical, occupational, and speech therapy will help individuals
with Patau syndrome reach their full developmental potential.
Nursing management
 Preventive aspect is most important.
 Parental counseling
 Teach the parent long term care
 prevention of accidental injury.
 Preventing infections by frequent hand washing,
 Intensive care- children with Patau syndrome die
within the first year of life
EDWARDS’S SYNDROME
 Edwards syndrome (also known as Trisomy 18 (T18) or
Trisomy E) is a genetic disorder caused by the presence of
all or part of an extra 18 chromosomes.
 It is named after John Edwards, who first described the
syndrome in 1960.
 It is the second most common autosomal triosmy , after
Down syndrome, that carries to term.
Signs and symptoms
 Small head








(microcephaly),
Prominent back portion of
the head ,
Low-set malformed ears;
Abnormally small jaw,
Cleft lip cleft palate.
Upturned nose;
Narrow eyelid folds);
Widely spaced eyes;
Drooping of the upper
eyelids (ptosis)
 A short breast bone;
 Clenched hands and
overlapping fingers.
 Choroid plexus cysts;
 Underdeveloped thumbs
or nails,
 Webbing of the second
and third toes;
Webbing
Conti.
 Club foot,
 Undescended testies
 kidney malformations




horse shoe kidney,
Structural heart defects at
birth
Intestines protruding
outside the body
(omphalocele),
Esophageal atresia,
Mental retardation,
Developmental delays,
 Feeding difficulties ,
 Breathing difficulties
 Arthrogryposis (a muscle
disorder that causes
multiple joint contractures
at birth).
 Symptoms include motor
retardation,
developmental disability
and. Ninety percent of
those affected die in
infancy.
 Growth deficiency
EDWARDs SYNDROME
Turners Syndrome: It is a chromosomal abnormality in which all or part of
one of the sex chromosomes is absent (unaffected
humans have 46 chromosomes, of which two are sex
chromosomes).
 Normal females have two X chromosomes, but in turner
syndrome, one of those sex chromosomes is missing or has
other abnormalities.
TURNER SYNDROME- CLINICAL
FEATURE
Treatment
 Growth hormone, either alone or with a low dose of
androgen, will increase growth and probably final adult
height.
 Estrogen replacement therapy has been used since the
condition was described in 1938 to promote development of
secondary sexual characteristics. Estrogens are crucial for
maintaining good bone integrity and tissue health.
 Women with Turner Syndrome who do not have spontaneous
puberty and who are not treated with estrogen are at high risk
for osteoporosis.
CRI DU CHAT
 It is caused by the deletion of part of the short arm of
chromosome 5.
 "Cri du chat" means "cry of the cat" in french; the condition
was so-named because affected babies make high-pitched
cries that sound like those of a cat.
 Affected individuals have wide-set eyes, a small head and
jaw, moderate to severe mental health issues, and are very
short.
Fragile X Syndrome
 The Fragile X Syndrome is thought to be the most
common inherited cause of MR after down syndrome.
 The syndrome is caused by an abnormal gene on the lower
end of the long arm of the x chromosome.
 Chromosomal analysis demonstrates a fragile site in some
cells of all affected males & in most carrier females.
HEMOPHILIA
 Hemophilia is inherited abnormality of blood coagulation
characterized by a tendency of hemorrhage from a trauma.
 It is due to deficiency of plasma factor (anti hemophilic
globulin)VIII, of Factor IX (Christmas disease) and of
factor XI.
PSEUDO HYPOPARATHYROIDISM
 In pseudohypoparathyroidism , production of PTH(Para
hormone) is increased .
 It may occur due to failure of end organ response in which
hormones secretion is good but the patients are found
mentally retarded with poor bony development & short
fingers & toes.
PSEUDOHYPERTROPHIC MUSCULAR DYSTROPHY
(Duchene & Becker Type) It is most common type of muscular dystrophy in children.
Commonly found in 3-5 years of age. It is genetic disorders with
X- linked recessive inheritance & primarily affects the males.
 The pelvic girdle is affected first & gradually weakness spreads to
shoulder girdle.
ALBINISSM
 Albinism is an inborn error of metabolism, characterized by
poor or nil pigmentation of the skin & hair .
 In total albinism , iris is pink or bluish & pupils are red.
Photophobia , nystagmus & refractive errors are common
 No specific treatment is available for this condition .
CRETINISM (Congenital Hypothyroidism)
 The most common type of hypothyroid state seen in
pediatric practice throughout the world is due to
absence of thyroid gland.
A condition characterized by physical
deformity and learning difficulties that is
caused by congenital thyroid deficiency
CYSTIC FIBROSIS
 Cystic fibrosis is inherited as an autosomal recessive
trait, the affected child inherits the defective gene
from both parents.
 The mutated gene for CF is located on the long arm of
chromosome 7.
GALACTOSEMIA
 Galactosemia is a rare autosomal –recessive disorders ,
 It
involves an inborn error
of carbohydrate
metabolism in which the hepatic enzyme galactose Iphosphate uridyltransferse is absent
CONGENITAL ADRENAL HPERPLASIA
 Congenital adrenal hyperplasia is a group of inherited
disorders marked by congenital deficiency or absence
of one or more enzymes essential for the production of
adrenal cortical hormones.
 It is inherited as an autosomal recessive disorder.
OSTEOGENESIS IMPERFECTA (Fragilities’
osmium) :




It is a hereditary osteoporotic syndromes ,
characterized by multiple fractures due to osteoporosis
& excessive bone fragility.
Feature :Skeletal deformities
Blue sclera
Congenital deafness
Lax ligaments
RETINOBLASTOMA
 Retinoblastoma is a malignant glioma of the retina. It may be
unilateral (70%).
 About 90% cases are found in less than 5 years of age. It is rare
tumor, though the commonest ocular neoplasm of childhood.
 It usually develops in the posterior portion of retina.
SICKLE CELL DISEASE
 Sickle cell disease is an autosomal recessive disorder in which
an abnormal hemoglobin causes chronic hemolytic anemia ,
with a variety of severe clinical consequences.
Tay-Sachs disease
 Tay-Sachs disease is a rare inherited disorder that
progressively destroys nerve cells (neurons) in the brain
and spinal cord.
 The most common form of Tay-Sachs disease becomes
apparent in infancy.
THALASSEMIA (COLLEY’S ANAEMIA)
 Thalassemia is chronic congenital hemolytic anemia in
which red blood cells have abnormal hemoglobin .
Niemann –Pick disease
 This is another rare disease , a lipidosis inherited as an
autosomal recessive character , in which an enzyme
sphingomyelinase , is absent.
 This results in accumulation of sphingomyelin in various
tissues & organs.
Achondroplasia (dwarfism
 Achondroplasia , an autosomal dominant
disorder, is characterized by severe short
stature ,short trunk & extremities with
dominant shortening of the proximal
segment .
Huntington’s Disease
 HD is passed from one generation to the next because
of an alteration in one of the many genes each of us
inherits from our parents.
 The gene that causes HD is called an autosomal
dominant gene.
Marfan syndrome
 It is characterized by arachnodactyly ( abnormally
long limbs , fingers , & toes) subluxation of the lens ,
hypotonia & hyperextensible patient to close his fist &
try to enclose the thumb within it .
Neurofibromatosis
 Another
autosomal
dominant
neurocutaneous
disorder , is characterized by café-au-lait
spots
(irregular hyperpigmented areas more than 6 spots
each measuring at least 1.5cm.) & speckled hyper
pigmentation & later in childhood , neurofibromas
involving skin, subcutaneous tissue , oral mucosa ,
musculoskeletal system ,GIT, eyes ,CNS leading to a
variety of manifestation.
SPHEROCYTOSIS: It is inherited chronic hemolytic disease with
autosomal dominant inheritance .
 The basic defect is the deficiency of spectrin & ankyrin
, red cell stromal proteins which maintain stability of
the erythrocyte membrane shape.
Pituitary Diabetes Insipidus
 Diabetes Insipidus , is the disorders of the posterior
pituitary gland due to a deficiency of antidiuretic
hormone (ADH) .
 It is characterized by failure of the body to conserve
water due to deficiency of ADH, decreased renal
sensitivity to ADH or suppression of ADH secondary
to excessive ingestion of fluid ,i.e. primary polydepsia.
CLEFT LIP & CLEFT PALATE
 Cleft
Lip:-It
results
from
failure of the maxillary process
to fuse with the maxillary
processes to fuse with the nasal
elevations
on
the
frontal
prominence.
 This defect varies from a notch
in
the
lip
to
complete
separation of the lip may be
unilateral or bilateral.
 Cleft palate:- This results from failure of the
fusion of secondary palate with each other & with
primary palate. It can be unilateral or Bilateral.
 Cleft lip & cleft palate :- The condition results
from a combined defect.
Causes : Genetic or unfavorable maternal factors ( viral
infection during 5th to 12th week of gestation)
 Ingestion of drugs
 Exposure to X-ray
 Anaemia
 Hypoprotenemia
Risk factors
Several factors may increase the likelihood of a baby
developing a cleft lip and cleft palate, including:
 Family history. Parents with a family history of cleft lip or
cleft palate face a higher risk of having a baby with a cleft.
 Exposure
to
certain
substances
during
pregnancy. Cleft lip and cleft palate may be more likely to
occur in pregnant women who smoke cigarettes, drink
alcohol or take certain medications.
 Having diabetes. There is some evidence that women
diagnosed with diabetes before pregnancy may have an
increased risk of having a baby with a cleft lip with or
without a cleft palate.
 Being obese during pregnancy. There is some evidence
that babies born to obese women may have increased risk
of cleft lip and palate.
 Males are more likely to have a cleft lip with or without cleft
palate.
 Cleft palate without cleft lip is more common in females.
Symptoms
 Usually, a split (cleft) in the lip or palate is immediately
identifiable at birth. Cleft lip and cleft palate may appear as:
 A split in the lip and roof of the mouth (palate) that affects one
or both sides of the face
 A split in the lip that appears as only a small notch in the lip or
extends from the lip through the upper gum and palate into the
bottom of the nose
 A split in the roof of the mouth that doesn't affect the
appearance of the face
 Signs and symptoms of submucous cleft palate may
include:
 Difficulty with feedings
 Difficulty swallowing, with potential for liquids or
foods to come out the nose
 Nasal speaking voice
 Chronic ear infections
Investigation
 History and physical examination
 USG-A prenatal ultrasound is a test that uses sound
waves to create pictures of the developing fetus. When
analyzing the pictures, a doctor may detect a difference
in the facial structures.
Complication: Immediate problem: Feeding problem due to ineffective sucking resulting
in under nutrition.
 Aspiration of feeds resulting respiratory function.
 Parental anxiety due to defective appearance of the
infant.
Long term Problems
 Recurrent infections especially otitis media
 Disturbed parent-child relationship & maladjustment with
nonacceptance to the infant.
 Impaired of speech
 Misplacement of teeth
 Hearing problem due to oral malformation especially in cleft
palate
 Impaired body image due to altered shape of face & oral cavity
Surgical Management : In cleft lip:- Surgical repair of the defect of the lip is done,
preferably at 2to3 months of age, when the infant is having
good health. The operation is termed of as cheiloplasty.
 In cleft palate :- Palotoplasty , the surgical reconstruction
of the palate is done with repair of the cleft, at about age of
1to 2 years of age. It should be done before the child
develops defective speech.
Cleft lip repair — within the first 3 to 6 months of age
Cleft palate repair — by the age of 12 months, or earlier if possible
Follow-up surgeries — between age 2 and late teen years
Nursing Management: At Birth:- Soon after birth, the baby may look unattractive but the
nurse should be show her reactions.
 The disfiguring defect may cause negative reaction & shock in the
parents .
 The nurse should explain the positive aspects about the correction
of defects.
 Feeding:- The main immediate nursing problem is
feeding .
 This defect reduces the ability of the infant to suck.
While feeding, the infant should be in upright
position. A special ‘cleft palate nipple’
 When the infant has problem to take feed with the
nipple , syringe with rubber tube may be used.
 Pre-Operative Care: Explain about the proper breast milk feeding or preparation
of formula to help in weight gain.
 Encourage the infant to lie on his back to practice for
postoperative essential positioning especially with arm
restraints.
 Provide love & affection
 Instruction to give last pre-operative feeding 6 hours before
surgery.
Post operative care: Check vital signs & provide general postoperative care.
 Position on back or side for repaired cleft lip.
 Prevention of infection to the suture line is done by cleaning the
sutured area after feeding , gently with asepsis, & avoiding
contamination.
 Prevention of injury should be done by preventing any object
placing in the mouth.
 Love, affection & security can be provided by holding &
cradling the baby by the mother.
 Health teaching to the parents:-
Explain general care of the baby.
Demonstrate the technique of feeding
Refer the genetic counseling if they need help.
Explain about follow up.
 DIABETES
commonest
MELLITUS-Diabetes
endocrine
metabolic
Mellitus
disorder
is
of
childhood & adolescence with long term effects on
child’s physical & psychological growth & development
.
 Congenital heart defects- Congenital heart disease is
the structural malformation of the heart or great
vessels, present at birth. It is the most common
congenital malformation.
NEURAL TUBE DEFECT (MYELODYSPLASIA ,
DYSRAPHISM)
 Neural tube defects are the congenital malformation of
the CNS resulting from a defective closure of the
neural tube during early embryogenesis between 3rd
&4th week of intrauterine life.
 It involves the defects in the skull , vertebral column ,
the spinal cord & other portion of CNS.
Types Of Neural Tube Defect:-
Spina bifida
Spina bifida
occulta
Meningomyelo
cele
Meningocele
Anencephaly
Encephalocele
1.Spina Bifida
 Spina Bifida:- It is the congenital
defect of the spinal column due to
failure of the fusion of the
vertebral arches with or without
protrusion of the meninges &
dysplasia of the spinal cord.
 It is the malformation of the spine
in which the posterior portion of
the lamina of the vertebra fails to
close.
A.Spina Bifida Occulta
 Spina Bifida Occulta :- It
is most frequent & most
benign neural tube defect.
 There is defective closure of
the
posterior
arch
&
laminae of the vertebrae ,
usually L5 &S1.
 There is no protrusion of
the
meninges.
But
the
dysplasia of the spinal cord
is a prominent feature.
Clinical feature
 Present after 6to8 years of age –
 (a) Progressive deformity of the foot
 (b) Phanges in micturation pattern
 (c) Alteration in the gait
 (d) Trophic ulcers on the toes & feet.
Surgical correction : Laminectomy is done &
 the intraspinal lesion excised.
B.Meningocele: Meningocele:- It is hernia
protrusion of the meninges
through a midline defect in
the posterior vertebral arch.
 It forms a fluctuating cystic
swelling filled with CSF and
covered by a thin transparent
membrane or with skin.
 It transluminate easily .
 It is generally found in the lower back, i.e. lumbosacral
region.
 It may also be found in the thoracic region and in the skull.
 The spinal cord and nerve roots are usually normal.
 Surgical closure of the sac should be done as early as
possible to prevent infections.
2.Meningomyelocele
 It is a midline cystic sac of
meninges with spinal tissue &
CSF, which herniates through a
defect in the posterior vertebral
arch.
 It is the one of the commonest
lesion & can be present anywhere
on the midline in the back ,but
lumbosacral
is
commonest type.
the
most
Clinical Feature : Spasticity & hyperactive reflexes may present in thoracic or
cervical myelomeningocele.
 Flaccid paralysis ,
 Absence of sensation ,
 Postural abnormalities like club foot.
 Hydrocephalus
 In older children contracture of joints ,
 Scoliosis & kyphosis may develop.
 Management :- Surgical correction of defect & supportive care.
3.Anencephaly: Anencephaly:- Anencephaly is a
congenital absence of cranial vault
with
the
cerebral
hemisphere
completely missing or reduced to
small masses. Various congenital
anomalies can be associated with
this condition like congenital heart
disease ,cleft palate etc. Death
usually occurs with a week or two
of birth.
4.Encephalocele
 It is a sac like protrusion of
meninges
with
brain
substance herniating through
a congenital bony defect in
the skull. It is commonly
found in the midline and in
the occipital or parietal area.
It may also found on frontal
bone, in the orbital or in the
nose.
The child may develop
 Hydrocephalus ,
 Visual problem ,
 Seizures ,
 Microcephaly
 Mental retardation.
 Associated congenital anomalies present i.E. Cleft lip & palate ,
 Abnormal genitalia ,
 Congenital nephrosis etc.
Management : surgical correction Of defect & supportive care.
MENTAL RETARDATION
 Mental retardation refers to the most severe general lack of
cognitive & problem solving skills. It is also known as cognitive
developmental delay.
Classification:MR is classified depending upon IQ level.
 Mild MR- IQ level 51-70
 Moderate MR-IQ level36-50
 Severe MR- IQ level 21-35
 Profound MR- IQ level below 20
Etiology : Genetic Syndrome –eg. Down’s syndrome
 Congenital anomalies – eg. Hydrocephalus
 Intrauterine influences- eg. eclampsia
 Perinatal conditions- eg. Birth trauma
 Postnatal conditions –eg. CNS infection
 Environmental & sociocultural factors-eg. Broken family,
child abuse etc.
Clinical Manifestation:







In Infancy Poor feeding
Weak sucking
Poor weight gain
Reduced spontaneous activity
Delayed head & trunk control
Hypotonia
Poor mother child interaction
 In Toddler Delayed speech & language






disabilities,
Delayed motor milestones
Failure to achieve
independence (self feeding,
dressing)
Short attention span
Hyperactivity
Poor memory ,poor
concentration
Emotional instability , sleep
problem
PREVENTIVE MANAGEMENT: Genetic counseling
 Good obstetrical care
 Essential neonatal care
 Prevention of management of low birth weight, preterm
delivery
 Neonatal assessment & screening of metabolic disorders or
other congenital anomalies should be done in suspected
cases.
NURSES ROLE & RESPONSIBILITIES OF GENETIC PEDIATRIC
DISORDER: 1)Pediatric nurses will encounter children with genetic
disorders in every clinical specialty area. This includes clinics,
hospitals, schools & community based centers.
 2)Talking with families who have recently been diagnosed
with a genetic disorder or who had a child born with
congenital anomalies is very difficult.
 3)Many times the nurse is the one who has first contact with
these parents & will be the one to provide follow up care.
 4)Refer the parent & motivate the parent for genetic
counseling.
 5)Nurse plays an essential role in providing emotional
support to the family throughout this challenging time.
 6)Nurses should also refer the family to appropriate
agencies , support groups & resources
ROLE OF THE NURSE IN GENETIC COUNSELLING
:-
 Collection of details history ,especially history of prenatal , natal
& postnatal period along with history of family illness.
 Preparation of pedigree chart by interview &home visit.
 Identification of present problems, its nature & severity , for
necessary interventions.
 Participation in diagnostic investigation , treatment ,follow-up &
research project.
 Provide necessary information to the parents & family members.
 Motivate the family members for genetic counseling & referring to
the genetic clinic
 Participating in genetic counseling process with special training ,
personal experience , knowledge & competency.
 Provide emotional support & answer questions asked by the
counselee.
 Guide the family for rehabilitation of the child & for available
social & economical support through social welfare agencies.
 Promote public awareness about the prevention of congenital
anomalies by individual or group health education or by mass
media information.
BIBLIOGRAPHY
 1) Terri Kyle ,Essentials of pediatric nursing,1ST edition,

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
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published by wolters kluwer pvt.ltd. new delhi, page no-10091044.
2) Assuma Beevi. T.M, Textbook of pediatric nursing,,1ST
edition, published by Elseiver pvt, ltd. Noida,
3) Parul dutta, pediatric nursing,3RD edition, jaypee
publication, page no.
4) Marlow R.D. “Textbook of pediatric Nursing” 6TH edition
,W.B. Saunders company,
5) Wong L.D. Hockenberry J.M. “Nursing care of infants &
children” 7TH edition., Philadelphia,
6)www.com.goole
7) Manoj Yadav , A Textbook of child health nursing ,pee vee
publication , 1st edition .
8) Piyush Gupta, Essential Pediatric Nursing, 3rd edition ,CBS
publication
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