Developmental and Childhood Disorders

• The chapter covers developmental, congenital, and childhood diseases and disorders.

Key Terms and Definitions

• Lanugo hair: Fine, soft hair covering a fetus during pregnancy. It develops around month 5.
• Vernix caseosa: White, cheesy film covering newborns; a mixture of sebum and dead epidermal cells.
• Amniocentesis: Collection of a fluid sample between 15-18 weeks of pregnancy.
• Chorionic villus biopsy (CVB): Procedure guided by sonography where an instrument collects tissue from the placenta.
• Preterm birth (prematurity): Birth before the 37th gestational week.

Risks and Signs of Prematurity

• Premature babies are at risk of cerebral bleeding, cerebral palsy (CP), intellectual developmental disorder, chronic lung disease, GI issues, and complications with underdeveloped organ systems.
• Signs and symptoms include: Babies weighing >12 ounces, lack of adipose tissue, few creases on palms and soles, undescended testes or prominent clitoris, inability to suck or swallow, underdeveloped systems, and immunodeficiency.

Congenital Conditions

• Bicornuate uterus: Congenital uterine malformation where the uterus is divided into two separate horns connected at the cervix.
• Infant respiratory distress syndrome (IRDS)/Hyaline membrane disease: Acute hypoxemia caused by infiltrates within the alveoli due to a lack of surfactant.
• Artificial surfactants: Include Survanta and Curosurf.
• Bronchopulmonary Dysplasia (BPD): Chronic lung disease with stiff, obstructed lungs that are hard to ventilate; it may be a sequela to IRDS.
• Retinopathy of Prematurity (ROP): Retrolental fibroplasia, with abnormal growth of blood vessels in the retinas of an infant.
• Necrotizing Enterocolitis (NEC): Acute inflammatory process caused by ischemic necrosis of the mucosal lining of the small intestine. It occurs when the intestinal tract of a premature/compromised newborn becomes active.
• Robinow Syndrome: Inherited condition of small stature, increased interorbital distance, bossing forehead, depressed nasal bridge, malaligned teeth, and short limbs.
• Cri du chat syndrome: Deletion on chromosome 5, resulting in a cat-like cry in newborns, along with other facial abnormalities.
• Hypertrophic cardiomyopathy (HCM): Congenital disorder marked by the thickening of the heart muscle without apparent cause and is autosomal dominant.
• Down syndrome: Trisomy 21; characterized by intellectual development disorder, distinct facial features, heart defects, and other anomalies.

Cerebral Palsy and Muscular Disorders

• Cerebral Palsy (CP): Group of nervous disorders affecting movement and posture.
  • Spastic CP: Characterized by hyperactive reflexes or rapid muscle contractions.
  • Athetoid CP: Characterized by involuntary muscle movements, especially during stress, reduced muscle tone, and possible speech impairments.
  • Ataxic CP: Characterized by a lack of control over voluntary movements, poor balance, and a wide gait.
• Muscular Dystrophy (MD): Progressive degeneration and weakening of skeletal muscles, leading to contractures, a waddling gait, and toe walking.
  • Duchenne MD: Caused by the absence of Dystrophin.

Neural Tube Defects and Heart Conditions

• Spina Bifida: Neural tube defects involving malformations of the spine.
  • Spina Bifida Occulta: The bony canal containing the spinal cord is completely or partially absent.
  • Spina Bifida with Meningocele: Meninges protrude through an opening in the spinal column, forming a fragile sac filled with cerebrospinal fluid.
  • Myelomeningocele: Herniation of a portion of the spinal cord and meninges through a defect in the spinal column and is the most severe form of spina bifida.
• Hydrocephalus: Increased CSF or blocked circulation, leading to abnormal enlargement of the head and pressure changes in the brain.
• Anencephaly: Failure of the cephalic aspect of the neural tube to close, resulting in the absence of a cranial vault and little cerebral tissue, leading to microcephaly.
• Ductus venosus: Temporary blood vessel connecting the umbilical vein to the inferior vena cava in the fetus.
• Foramen ovale: Small opening in the heart that allows blood to bypass the lungs before birth.
• Acyanotic: Condition without cyanosis, where deoxygenated and oxygenated blood do not mix.
• Cyanotic: Bluish/purple skin discoloration due to the mixing of deoxygenated and oxygenated blood.
• Ventricular Septal Defect (VSD): Abnormal opening between the right and left ventricles, producing a harsh holosystolic murmur.
• Patent Ductus Arteriosus (PDA): Occurs when the ductus fails to functionally close, compromising oxygen circulation.
• Coarctation of the Aorta: Narrowed aortic lumen causing partial obstruction of blood flow through the aorta and is often associated with Turner syndrome.
• Atrial Septal Defect (ASD): Abnormal opening between the right and left atria, causing blood to shunt left to right and produce a systolic murmur.
• Tetralogy of Fallot: Combination of VSD, pulmonary stenosis, dextroposition of the aorta, and right ventricular hypertrophy.
• Transposition of the Great Arteries: Condition where the aorta and pulmonary artery are reversed (the aorta originates from the right ventricle, and the pulmonary artery originates from the left ventricle).

Other Congenital and Childhood Disorders

• Club foot (Talipes Equinovarus): Deformity of the foot of a newborn where the anterior half of the foot is adducted and inverted.
• Developmental dysplasia of the Hip (DDH): Abnormal development of the hip joint, ranging from an unstable joint to dislocation of the femoral head from the acetabulum.
• Cleft lip (harelip) and palate: One or more clefts in the lip and a hole in the roof of the mouth.
• Cryptorchidism: Failure of one or both testes to descend from the abdominal cavity into the scrotum.
• Wilms Tumor: Nephroblastoma; a highly malignant neoplasm of the kidney affecting children under 10, which is an adenosarcoma.
• Phimosis: Foreskin stenosis.
• Congenital pyloric stenosis: Gastric obstruction due to narrowing of the pyloric sphincter at the stomach's exit.
• Hirschsprung Disease: Impairment of intestinal motility causing obstruction of the distal colon due to abnormal innervation of the bowel wall muscle.
• Meconium: First stool passed by a baby.
• Cystic Fibrosis (CF): Autosomal recessive disorder causing chronic dysfunction of the CFTR gene, leading to thick and sticky mucus accumulation and blockage of glandular ducts.
• Phenylketonuria (PKU): Inherited metabolic disorder affecting the body's ability to break down the amino acid phenylalanine due to a lack of the enzyme to convert phenylalanine to tyrosine.
• Klinefelter's syndrome: XXY; Male hypogonadism, generally resulting in azoospermia.
• Turner Syndrome: X; Gonadal dysgenesis in females with low-set ears, webbed neck, short stature, immature/absent ovaries, and cardiac defects.
• Chickenpox (Varicella Zoster): Highly contagious acute viral infection marked by superficial lesions that evolve from red macules to papules to vesicles, eventually forming crusts. Caused by VZV virus/Human herpes virus 3 HHV-3.
• Diphtheria: Acute bacterial infectious disease that causes necrosis of the mucous membrane in the respiratory tract, forming grayish patches of pseudomembrane.
• Mumps (Epidemic Parotitis): Acute communicable viral disease causing inflammation and swelling in the parotid glands.
• Pertussis (Whooping Cough): Highly contagious bacterial infection of the respiratory tract.
  • Catarrhal stage: The child appears to have a common cold and is highly contagious.
  • Paroxysmal stage: Coughing becomes violent, ending in a high-pitched whoop, often followed by vomiting of thick mucus.
  • Convalescent stage: Cough gradually diminishes.
• Measles (Rubeola): Acute highly contagious viral disease; Koplik spots on the oral mucosa are followed by a large red blotchy rash.
• Rubella (German Measles): Highly contagious viral disease resembling measles but with a shorter duration; rose-colored elevated rash starts at the head and spreads elsewhere, with enlarged and tender lymph nodes.
• Tetanus: Acute systemic infection characterized by involuntary muscle contractions.

Other Conditions

• Opisthotonos: Spasm of the muscles causing backward arching of the head, neck, and spine.
• Sudden infant death syndrome (SIDS): Unpredicted death of an infant under 1 year, where cause cannot be established. May include a mottled complexion and cyanotic lips and fingertips.
• Croup: Acute severe inflammation and obstruction of the respiratory tract, characterized by stridor, hoarseness, dyspnea, and circumoral cyanosis; usually preceded by an upper respiratory tract infection.
• Epiglottitis: Inflammation of the epiglottis.
• Acute Tonsillitis: Painful inflammatory process affecting the tonsils, with yellow exudate projecting from crypts.
• Adenoid Hyperplasia: Abnormal enlargement of the lymphoid tissue located in the space above the soft palate, causing a partial breathing blockage.
• Asthma: Chronic obstructive disease where the bronchioles constrict, and the airway is inflamed.
  • Status asthmaticus: Asthma attack that doesn't respond to treatment.
• Bronchiolitis: Inflammation of the bronchioles, commonly caused by RSV.
• Infantile Colic: Intermittent distress in the newborn or infant with unclear etiology, involving drawing up legs, clenching fists, crying, and passing gas.
• Helminth (Worm) Infestation: Parasites in the intestinal tract causing mild to intense itching.
• Diarrhea: Rapid passage of stool through the intestinal tract, with noticeable changes in frequency, fluid content, appearance, and consistency. It can cause dehydration.
• Vomiting (Emesis): Ejection of stomach contents through the mouth.
• Anemia: Abnormal reduction in the concentration of RBCs or in the hemoglobin content of circulating blood.
• Leukemia: Cancer of blood-forming tissues characterized by an abnormal increase in immature WBCs or undifferentiated blastocytes.
• Erythroblastosis Fetalis: Occurs when the mother and fetus have incompatible Rh factors, resulting in excessive rates of RBC destruction.
• Hydrops fetalis: Condition in the fetus characterized by an accumulation of fluid or edema.
• Lead poisoning: Environmentally caused blood toxicity resulting from ingestion or inhalation of lead dust or particles.
  • Warning signs: Symptoms of encephalopathy, including vomiting, headache, stupor, ataxia, convulsions, and coma from cerebral edema.
• Reye Syndrome: Combination of brain disease and fatty invasion of the inner organs, especially the liver.
• Fetal alcohol syndrome (FAS): Intrauterine exposure to alcohol causing birth defects, including delayed growth, smaller eye openings, spaced eyes, thin upper lip, CNS issues, and heart defects.
• Diaper rash: Considered a contact dermatitis, including irritation and rash in the diaper area.
• Neuroblastoma: Cancer of the sympathetic nervous system arising from primitive sympathetic ganglion cells.