Maternal

• Metabolism


  Process of converting food to energy on a cellular level
• Metabolic disorders (inborn errors of metabolism)

  Defective gene resulting in enzyme deficiency responsible for the metabolism of carbohydrates, amino acids derived from proteins and fatty acids derived from lipids
• Phenylketonuria (PKU)


  • Autosomal recessive disorder that results in CNS damage from toxic levels of phenylalanine (building block of protein) in the blood that can cause intellectual disability and serious problems
  • 2 copies of the mutated genes coming from the mother and father are required to cause the disorder
  • No liver enzyme of phenylalanine hydroxylase

  
• Phenylalanine


  Cannot be converted to tyrosine, which is the precursor of epinephrine, T4 or thyroxine, and melanin
• Diagnosis of PKU

  1. Newborn Screening Test

  2. Done during day 2 to several weeks after birth

  3. Baby should receive 2 full breast or formula feeding

  4. Heel prick - ↑blood collection, ↓risk of hemolysis and ↓pain

  
• Nursing interventions for PKU

  1. Screen the newborn for PKU

  2. Restrict phenylalanine intake: high protein foods

  3. Monitor for physical, mechanical, neurological and intellectual intelligence

  
• Management of PKU

  • Sapropterin (Kuvan) - works by increasing tolerance to phenylalanine
  • Lofenalac - formula that is extremely low in phenylalanine
  • Monitor phenylalanine levels (which should be below 8 mg/dL)
  • Monitor Hemoglobin levels

  
• Maple syrup urine disease


  • Inherited as an autosomal recessive trait
  • Genetic disorder characterized by deficiency of an enzyme complex (branched-chain alphaketo acid dehydrogenase)
  • Defect in metabolism of the amino acids leucine, isoleucine, and valine, which leads to cerebral degeneration
  • Urine develops the characteristic odor of maple syrup due to presence of ketoacids
  • If left untreated, an infant may die as early as 2-4 weeks of age

  
• Nursing interventions for maple syrup urine disease

  1. Intensive nutritional counseling (low protein diet)

  2. Hemodialysis or peritoneal dialysis may be necessary
• Galactosemia


  • Transmitted as an autosomal recessive trait
  • A disorder of carbohydrate metabolism that is characterized by abnormal amounts of galactose in the blood (galactosemia) and in the urine (galactosuria)
  • Deficient in the liver enzyme galactose1-phosphate uridyltransferase (GALT)
  • Glucose can be readily used as source of energy

  
• Nursing intervention for galactosemia

  Placing the infant on a diet free of galactose or giving the child formula made with milk substitutes such as casein hydrolysates (Nutramigen)

  
• Glycogen storage disease


  • A group of genetically transmitted disorders that involve altered production and use of glycogen in the body
  • Glycogen is deposited normally, but an enzyme deficiency prevents retransformation of the glycogen back to glucose
  • 12 out of 13 described types are inherited autosomal recessive traits, and the other is sex-linked disorder

  
• Nursing intervention for glycogen storage disease

  1. Eat a high carbohydrate diet with snacks between meals to prevent hypoglycemia

  2. Continuous glucose nasogastric or gastrostomy feeding during the night may be necessary

  3. Diazoxide (Proglycem), an antihypoglycemic drug that inhibits insulin release
• Tay-Sachs disease

  • Autosomal recessively inherited disease
  • The infant lacks hexosaminidase A, an enzyme necessary for lipid metabolism
  • Without this enzyme, lipid deposits accumulate on nerve cells → severe cognitive challenge due to deposits on brain cells, and blindness due to deposits on optic nerve cells
  • Ashkenazi Jewish population (Eastern European Jewish ancestry)

  
• Assessment of Tay-Sachs disease

  1. Birth: Extreme Moro reflex, Mild hypotonia

  2. 6 months: w/o head control, Unable to sit up or roll over w/o support

  3. 1 year: Spasticity

  4. 2 years: Generalized seizures and blindness

  5. 3 to 5 years of age: Most children die of cachexia (malnutrition) and pneumonia

  
• Cleft lip/palate

  • Congenital (from birth) anomalies that occur as a result of failure of soft tissue or bony structure to fuse during embryonic development
  • It involves abnormal opening in the lip and/ palate that may occur unilaterally or bilaterally

  
• Jewish population

  Eastern European Jewish ancestry
• Extreme Moro reflex
• Mild hypotonia
• Without head control at 6 months
• Unable to sit up or roll over without support at 6 months
• Due to accumulation of lipid deposits in nerve cell
• Cherry-red macula due to lipid deposits in optic nerve cells
• Spasticity (stiffness in muscle) at 1 year
• Generalized seizures and blindness at 2 years
• Most children die of cachexia (malnutrition) and pneumonia by 3 to 5 years of age
• Muscle atrophy leads to inability to swallow
• Pneumonia is linked to malnutrition = decreased respiratory muscle function & decreased lung defense mechanism
• Cleft lip/palate

  Congenital (from birth) anomalies that occur as a result of failure of soft tissue or bony structure to fuse during embryonic development

  
• Cleft lip

  • Slight notch (small cut that is shaped like letter V) to a complete separation from the floor to the nose

  
• Cleft palate

  • Nasal distortion, midline or bilateral cleft and variable extension for the uvula and soft and hard palate

  
• Cleft palate occurs when palate does not close during 9-12 weeks of intrauterine life

  
• Nursing intervention for cleft lip/palate

  1. Assess for feeding and swallowing and handling normal secretions and breathing patterns

  2. Assess fluid and calorie intake daily

  3. Monitor daily weight

  4. Monitor feeding techniques: use specialized feeding techniques, obturator and special nipples for feeding

  5. Encourage the mother to express the feelings

  6. Encourage the mother to hold the child

  7. Avoid use of suction or placing objects in the mouth such as tongue depressor, thermometer, pacifier, straw

  8. Instruct the parents to monitor for signs and symptoms of infections
• Surgical management for cleft lip

  1. Placement of lip protector device or Logan bar to tape securely to the cheeks to prevent trauma to the suture line

  2. Position the child on the side /lateral or on the back and avoid prone position

  3. Elbow restraints should be used to prevent infant from rubbing or injuring the surgical site

  
• Surgical management for cleft palate

  1. The optimal time for repair of cleft palate is controversial because early repair increases speech development but may result in necessary second stage repair as the child's palate expands with growth

  2. The baby is allowed to lie on the abdomen/prone

  3. Surgery may be recommended as a two-stage palate repair: 1) To repair alternation, 2) Allow normal speech, 3) Avoid impairment of facial and upper dental arch growth

  4. With soft palate repair at 3 months of age

  5. Hard palate repair at 6 months of age (Malek protocol)

  
• Celiac disease


  Immune-mediated abnormal response to gluten, the protein in wheat, and related proteins in rye, barley and possibly oats, in a genetically susceptible individual
• When children with celiac disease ingest gluten, flattening of the fingerlike projections (villi) of the small intestine occurs, preventing the absorption of foods, especially fat, into the body

  
• Symptoms of celiac disease

  • Acute or insidious diarrhea
  • Steatorrhea (bulky, foul smelling, fatty stools)
  • Anorexia
  • Vomiting
  • Anemia
  • Irritability
  • Deficiency of fat-soluble vitamins A, D, E and K
  • Malnutrition
  • A distended abdomen from the fat, bulky stools
• Nursing intervention for celiac disease

  1. Instruct parents and child about lifelong elimination for gluten sources (gluten-free diet)

  2. Administer mineral and vitamin supplementations including iron, folic acid and fat-soluble supplements ADEK
• Hirschsprung's disease

  Congenital anomaly also known as CONGENITAL AGANLIONIC MEGACOLON (abnormal dilation of colon)