learning Objectives - Demonstrate skills in providing comprehensive nursing care to the children having congenital defects/ malformation
Hours - 15
Teaching and Learning Activities - Lecture cum discussions Presentation of picture of congenital anomalies Supervised clinical practices
Assessment Methods - Short answers Objective type Essay type
Content of the chapter
Etiology, signs and symptoms,
diagnosis, complications and
medical, surgical & nursing
management of children with:
– Malformations of CNS, cranial
deformities, spina bifida,
hydrocephalus, cerebral palsy,
meningocoele.
– Skeletal defects, cleft lip &
cleft palate
– Gastro intestinal tract
defects, fistula, anorectal
malformations, hernia
– Congenital hypertrophied
pyloric stenosis
– Defects of Genito-urinary Tract
–hypospadiasis & epispadiasis,
extrophy of bladder,
phimosis & paraphimosis,
cryptorchidism, polycystic
kidney
– Sexual abnormalities,
ambiguous genitalia
– Defects of cardio vascular
system, cyanotic and
acyanotic- TOF (Tetralogy of
Fallouts), TGV (Transposition
of Great Vessels), TAPVC,
ASD, VSD, Coactation of
aorta, PDA
– Orthopedic abnormalities –
congenital talipusequinovarus,
congenital dislocation of hips
– Chromosomal abnormalities
– Down’s syndrome, Turner’s
syndrome.
Definition: Congenital disorders are structural, functional, or metabolic abnormalities present at birth, resulting from genetic, environmental, or unknown causes.
1. Malformations of the CNS
a) Cranial Deformities
- Etiology: Genetic, intrauterine infections, trauma
- Signs & Symptoms: Abnormal head shape, delayed milestones
- Diagnosis: Physical exam, CT/MRI
- Complications: Neurological deficits, developmental delay
- Management: Surgical correction if indicated, supportive care
b) Spina Bifida / Meningocele
- Etiology: Neural tube defect, folic acid deficiency
- Signs & Symptoms: Visible sac, paralysis, sensory loss
- Diagnosis: Ultrasound, MRI, prenatal screening
- Complications: Infection, hydrocephalus, orthopedic deformities
- Management: Surgical closure, physiotherapy, bladder/bowel care
c) Hydrocephalus
- Etiology: Congenital obstruction, post-meningitis
- Signs: Enlarged head, bulging fontanel, irritability, vomiting
- Diagnosis: Ultrasound, CT, MRI
- Complications: Increased ICP, developmental delay
- Management: Ventriculoperitoneal shunt, supportive care
d) Cerebral Palsy
- Etiology: Perinatal asphyxia, prematurity, brain injury
- Signs: Spasticity, abnormal posture, delayed milestones
- Diagnosis: Clinical assessment, imaging
- Complications: Contractures, feeding difficulty, seizures
- Management: Physiotherapy, medications (spasmolytics), assistive devices, nursing care for mobility, nutrition, skin care
2. Skeletal Defects
a) Cleft Lip & Palate
- Etiology: Genetic, maternal malnutrition, teratogens
- Signs: Visible cleft, feeding difficulty, speech delay
- Diagnosis: Physical exam, prenatal USG
- Complications: Malnutrition, speech & dental problems, recurrent infections
- Management: Surgical repair, feeding support, speech therapy, family education
b) Orthopedic Abnormalities
- Congenital Talipes Equinovarus (Clubfoot): Deformity of foot, corrected by casting or surgery
- Congenital Dislocation of Hips: Limited hip movement, leg length discrepancy, managed with splints or surgery
- Nursing Care: Positioning, physiotherapy, parental teaching, monitoring for skin integrity
3. Gastrointestinal Tract Defects
- Examples: Esophageal atresia, fistula, anorectal malformations, hernia, congenital hypertrophic pyloric stenosis
- Signs: Vomiting, feeding difficulty, abdominal distension, failure to thrive
- Diagnosis: Physical exam, imaging
- Complications: Aspiration, malnutrition, infection
- Management: Surgical correction, IV fluids, nasogastric feeding, pre/postoperative care
4. Genito-Urinary Tract Defects
- Examples: Hypospadias, epispadias, bladder exstrophy, phimosis, paraphimosis, cryptorchidism, polycystic kidney
- Signs: Abnormal urethral opening, urinary retention, swelling, palpable abdominal mass
- Diagnosis: Physical exam, USG, VCUG
- Complications: Urinary infection, renal impairment, infertility
- Management: Surgical correction, catheter care, parental education, infection prevention
5. Sexual Abnormalities
- Ambiguous genitalia
- Etiology: Hormonal disorders, chromosomal abnormalities
- Signs: Inconclusive genitalia, delayed puberty
- Diagnosis: Karyotyping, hormonal assay
- Management: Endocrinology consultation, surgical correction if indicated, psychosocial support
6. Cardiovascular System Defects
Cyanotic Defects
- TOF (Tetralogy of Fallot), TGV (Transposition of Great Vessels), TAPVC
- Signs: Cyanosis, clubbing, dyspnea, fatigue
- Management: Surgical repair, monitoring, supportive care
Acyanotic Defects
- ASD, VSD, Coarctation of aorta, PDA
- Signs: Murmur, heart failure, poor growth
- Management: Medical therapy, surgical correction, nursing care includes monitoring, oxygen therapy, growth monitoring
7. Chromosomal Abnormalities
a) Down’s Syndrome (Trisomy 21)
- Signs: Mental retardation, flat facial profile, congenital heart defects, hypotonia
- Management: Early intervention, physiotherapy, cardiac monitoring, educational support
b) Turner’s Syndrome
- Signs: Short stature, webbed neck, ovarian failure, cardiac anomalies
- Management: Hormonal therapy, psychological support, monitoring for complications
Nursing Management Principles for Congenital Disorders
- Assessment: Identify deformities and associated complications
- Supportive Care: Nutrition, hydration, respiratory care, infection prevention
- Preparation for Procedures: Pre/postoperative care
- Education & Counseling: Parents/family on care, home modifications
- Multidisciplinary Collaboration: Surgeons, pediatricians, physiotherapists, dietitians, psychologists
- Developmental Support: Early intervention programs, physiotherapy, speech therapy
Conclusion
Congenital disorders require early diagnosis, multidisciplinary medical & surgical management, and comprehensive nursing care to promote growth, development, and quality of life. Nurses play a key role in prevention, education, and long-term support for the child and family.