NR 330 PediatricsExam 1 Script

Newborn Screening and Metabolic Disorders

• Phenylketonuria (PKU): This is an autosomal recessive disorder characterized by the body's inability to produce the enzyme phenylalanine hydroxylase. This enzyme is essential for converting the amino acid phenylalanine into tyrosine. Without it, phenylalanine levels rise to toxic concentrations in the bloodstream.

  • Clinical Presentation: Infants appear entirely asymptomatic and normal at birth. Untreated, symptoms include a musty or mousy odor in urine and perspiration, fair skin and hair (due to melanin deficiency), seizures, and progressive intellectual impairment.

  • Screening: Universal newborn screening involves a heel-stick blood sample obtained $24$ to $48$ hours after birth. Testing must occur after the infant has ingested dietary phenylalanine via feedings.

  • Management: A lifelong diet low in phenylalanine is required. High-protein foods such as meat, eggs, dairy, and nuts must be avoided, as well as the artificial sweetener aspartame. Infants require specialized low-phenylalanine formula.

• Galactosemia: This is an autosomal recessive condition where the GALT enzyme is missing, preventing the breakdown of galactose (a sugar in milk). Accumulation causes damage to the eyes, liver, brain, and kidneys.

  • Clinical Presentation: Symptoms manifest rapidly within days of starting breastfeeding or standard formula, including vomiting, poor feeding, lethargy, jaundice, and hepatomegaly. Potential complications include cataracts, liver failure, and $E.\text{ coli}$ sepsis.

  • Screening: A heel-stick sample is taken within the first $72$ hours of life.

  • Dietary Emergency: Breastfeeding and standard formulas must be discontinued immediately. The infant must switch to lactose-free or soy-based formula.

• Screening Window Mnemonic: PKU (P) comes before Galactosemia (G) alphabetically, just as the $48$-hour window precedes the $72$-hour window numerically.

Levels of Prevention

• Primary Prevention: Actions taken to prevent the initial occurrence of disease or injury. Examples include immunizations, car seat safety training, and safe sleep education.

• Secondary Prevention: Early detection of disease while it is asymptomatic to halt progression. This includes newborn screenings for PKU and galactosemia, vision/hearing screenings, and lead screenings.

• Tertiary Prevention: Management of established disease to minimize complications. Examples include cardiac rehabilitation and chest physiotherapy for cystic fibrosis.

Growth and Development Milestones

• Weight Gain Patterns:

  • Newborns: Typically lose up to $10\%$ of birth weight due to fluid shifts; this should be regained by $2$ weeks of age.

  • Double Birth Weight: By $5$ to $6$ months.

  • Triple Birth Weight: By $12$ months.

  • Quadruple Birth Weight: By $2$ to $2.5$ years.

• Gross Motor Milestones:

  • 2 Months: Brief head lifting when prone.

  • 4 Months: Rolling from front to back; minimal to no head lag when pulled to a sitting position.

  • 6 Months: Rolling both directions; sitting with support.

  • 9 Months: Crawling and pulling to a standing position.

  • 12 Months: Standing alone; taking independent steps.

  • Evaluation Trigger: Failure to sit by $9$ months or walk by $18$ months requires developmental assessment.

• Toddler Health Promotion ($1$ to $3$ years):

  • Characteristics include autonomy, negativism (‘no’), and physiologic anorexia (decreased appetite due to slowed growth).

  • Injury Prevention: Unintentional injury is the leading cause of death. Measures include outlet covers, cabinet locks, poison control accessibility, and rear-facing car seats.

  • Choking Hazards: Avoid whole grapes, popcorn, nuts, hard candy, and hot dogs.

Clinical Conditions of Infancy and Early Childhood

• Colic: Defined by the ‘Rule of Threes’: crying more than $3$ hours a day, more than $3$ days a week, for more than $3$ weeks in an infant under $3$ to $5$ months old.

  • Symptoms: Clenched fists, paroxysmal crying, legs drawn to abdomen.

  • Nursing Care: Rule out organic causes; reassure parents it is not their fault. Safety teaching includes placing the infant in a crib and stepping away if overwhelmed to prevent shaken baby syndrome.

• Failure to Thrive (FTT): Diagnosed when weight (and sometimes height/head circumference) falls below the $3^{rd}$ to $5^{th}$ percentile, or when growth crosses two major percentile lines.

  • Types: Organic (medical causes like heart defects) or Non-organic/Psychosocial (inadequate caloric intake, poverty, neglect).

  • Assessment: Observe feeding techniques and parent-infant interaction.

• Lead Poisoning: Exposure often occurs via pre-$1978$ lead-based paint, soil, or imported items.

  • Impact: There is no safe blood lead level. Screening occurs at $12$ and $24$ months.

  • Symptoms: Low levels may be asymptomatic; high levels cause abdominal pain, irritability, constipation, and developmental delays. Extreme levels cause encephalopathy.

Pediatric Nursing Foundations

• Atraumatic Care: Minimizing physical and psychological distress.

  • Principles: Use age-appropriate, honest language. Encourage parental presence. Perform procedures in a dedicated treatment room so the child's bed remains a ‘safe space.’

• Family-Centered Care: The family is viewed as a constant and a partner in care rather than a passive recipient.

• Nursing Roles: Includes provider of care, educator, advocate (especially for those who cannot speak for themselves), family supporter, and case manager.

Congenital Gastrointestinal Malformations

• Esophageal Atresia (EA) and Tracheoesophageal Fistula (TEF): The esophagus fails to connect to the stomach or connects abnormally to the trachea.

  • Signs: The three C’s: choking, coughing, and cyanosis with feeding, plus excessive drooling and inability to pass an NG tube.

  • Care: NPO, semi-Fowler’s position, and frequent suctioning.

• Pyloric Stenosis: Thickening of the pyloric muscle causing obstruction.

  • Signs: Projectile non-bilious vomiting in a $2$-to-$8$-week-old, hunger after vomiting, and an olive-shaped mass in the right upper quadrant.

  • Complications: Hypochloremic, hypokalemic metabolic alkalosis.

  • Treatment: Surgical pyloromyotomy.

• Hirschsprung Disease: Absence of ganglion cells in the colon, preventing peristalsis.

  • Signs: Failure to pass meconium within $24$ to $48$ hours, abdominal distension, and ribbon-like stools.

  • Diagnosis: Rectal biopsy.

• Cleft Lip and Palate: Failure of facial structures to fuse during weeks $5$ to $12$ of gestation.

  • Complications: Feeding difficulties (poor suction), otitis media, speech delays, and aspiration risk.

  • Management: Use specialty cleft feeders, feed upright, and burp frequently.

  • Surgery: Cleft lip repair at $2$ to $3$ months; cleft palate repair at $6$ to $12$ months.

  • Post-op: Use elbow restraints to protect suture lines; remove periodically for skin/ROM checks.

Acquired Gastrointestinal Disorders

• Dehydration: Higher risk in children due to high metabolic rate, body surface area, and immature kidneys.

  • Classification: Mild ($3\%$ to $5\%$ weight loss), Moderate ($6\%$ to $9\%$ weight loss, sunken fontanel, dry membranes), Severe ($10\%$ or more weight loss, hypotension, lethargy, delayed refill).

  • Calculation: $1\,\text{kg}$ acute weight loss $\approx$ $1\,\text{L}$ fluid loss.

  • Treatment: Oral rehydration solution (ORS) for mild/moderate; isotonic IV fluids (Normal Saline) for severe.

• Intussusception: Bowel segment telescopes into another, usually between $3$ months and $3$ years.

  • Signs: Sudden colicky pain (knees to chest), currant-jelly stools (blood/mucus), and a sausage-shaped mass.

  • Treatment: Air or contrast enema is diagnostic and therapeutic.

• Appendicitis: Periumbilical pain migrating to McBurney’s point.

  • Red Flag: Sudden relief of pain indicates perforation.

  • Contraindications: Never apply heat; never give laxatives/enemas.

• Celiac Disease: Autoimmune reaction to gluten (wheat, barley, rye).

  • Diagnosis: Testing must occur while gluten is in the diet to avoid false negatives. Gold standard is a small intestine biopsy showing villous atrophy.

Respiratory Disorders and Distressed States

• Signs of Respiratory Distress:

  • Early: Tachypnea, nasal flaring, restlessness, mild retractions.

  • Late/Ominous: Grunting, head bobbing, seesaw breathing, cyanosis, and bradycardia (pre-arrest sign).

• Croup (Laryngotracheobronchitis): Viral; presents with a seal-like barking cough and inspiratory stridor. Managed with cool mist, dexamethasone, or nebulized racemic epinephrine.

• Bronchiolitis (RSV): Inflammation of small airways. Supportive care (suction, hydration). Bronchodilators/steroids are generally ineffective.

• Asthma: Chronic inflammation. Use albuterol for rescue and inhaled corticosteroids for control.

• Epiglottitis: Emergency bacterial infection (typically Haemophilus influenzae type B).

  • The 4 D’s: Drooling, Dysphagia, Dysphonia, Distressed effort.

  • Nursing Action: Maintain a calm environment; do not examine the throat or use tongue depressors as this may cause total obstruction.

Cystic Fibrosis (CF)

• Pathophysiology: Autosomal recessive mutation of the CFTR gene causing thick, tenacious mucus in the lungs, pancreas, and GI tract.

• Clinical Signs: Steatorrhea (bulky, foul-smelling stools), salty skin, chronic cough, and meconium ileus in newborns.

• Diagnosis: Sweat chloride test.

• Management: Chest physiotherapy before meals. Pancreatic enzymes with all food. High-calorie, high-protein, high-fat diet with fat-soluble vitamin (A, D, E, K) supplementation.

• Infection Control: CF patients must avoid contact with other CF patients due to Pseudomonas risk.

Inhaler and Pulmonary Testing

• MDI Use: Use a spacer, shake well, slow inhalation, and $10$-second breath hold.

• Steroid Precautions: Rinse mouth after inhaled corticosteroids to prevent oral thrush.

• Pulmonary Function Tests (PFTs): Reliable for children aged $5$ to $6$ and older.

  • Obstructive Pattern: Reduced FEV1 and reduced FEV1/FVC ratio.

Neurodevelopmental and Sensory Conditions

• Autism Spectrum Disorder (ASD): Characterized by social interaction challenges and repetitive behaviors. Hospital care requires maintaining strict routine/predictability.

• ADHD: Involves inattention or hyperactivity. On stimulant medication, monitor growth (weight) and cardiac status.

• Down Syndrome (Trisomy 21): Physical features include hypotonia, single palmar crease, and upward-slanting palpebral fissures. Core care requires routine screening for heart defects, hearing/vision loss, thyroid issues, and atlantoaxial instability.

• Otitis Media: More common in kids due to shorter, horizontal eustachian tubes. Bulging, red tympanic membrane.

• Strabismus: Eye misalignment. If untreated, leads to amblyopia (permanent vision loss). Tests: corneal light reflex and cover-uncover test.

Cardiac Disorders

• Acyanotic (Left-to-Right Shunt): ASD, VSD, PDA, Coarctation of the aorta.

• Cyanotic (Right-to-Left Shunt): The 5 T's (Tetralogy of Fallot, Transposition of Great Arteries, Truncus Arteriosus, Tricuspid Atresia, Total Anomalous Pulmonary Venous Return).

• Infant Signs of Heart Failure: Diaphoresis during feeding, poor weight gain, and tachypnea.

• Tetralogy of Fallot: Hypercyanotic "Tet spells" are managed by placing the infant in the knee-chest position to increase systemic vascular resistance.

• Pediatric Hypertension: BP norms are determined by age, sex, and height percentiles. Accurate cuff size is critical.

• Congenital Heart Disease Management: Focuses on surgical defect repair, diuretics for fluid, and calorie-dense feedings.