Developmental Disabilities

  1. Down syndrome
    1. Introduction: Down syndrome (trisomy 21; mongolism) is a chromosomal abnormality in volving an extra chromosome #21 and resulting in 47 chromosomes instead of the normal 46 chromosomes. As a consequence, the child usually has varying degrees of mental retardation, characteristic facial and physical features, and other congenital anomalies. Down syndrome is the most common chromosomal disorder, occurring in approximately 1 of 800 to 1000 live births. Perinatal risk factors include advanced maternal age, especially with the first pregnancy; paternal age is thought to be a related factor.
    2. Assessment:
      1. Physical characteristics
        1. Brachycephalic (small, round head) with oblique palpebral fissures (Oriental eyes) and Brushfield’s spots (speckling of tris) - depressed nasal bridge ("saddle nose") and small, low - set ears.
        2. Mouth
          1. Small oral cavity with protruding tongue causes difficulty sucking and swallowing.
          2. Delayed eruption/misalignment of teeth.
        3. Hands
          1. Clinodactyly - in - curved little finger.
          2. Simian crease - transverse palmar crease.
        4. Muscles: hypotonic ("floppy baby”) with hyperextensible joints.
        5. Skin: dry, cracked.
      2. Genetic studies reveal an extra chromosome #21 (“trisomy 21”).
      3. Intellectual characteristics
        1. Mental retardation - varies from severely retarded to low - average intelligence.
        2. Most fall within “trainable" range, or IQ of 36 - 51 (“moderate mental retardation").
      4. Congenital anomalies/diseases
        1. 30 - 40% have congenital heart defects: mortality highest in patients with Down syndrome and cyanotic heart disease.
        2. GI: tracheoesophageal fistula (TEF), Hirschsprung’s disease.
        3. Thyroid dysfunction, especially hypothy roidism.
        4. Visual defects: cataracts, strabismus.
        5. Hearing loss.
        6. Increased incidence of leukemia.
      5. Growth and development
        1. Slow growth, especially in height.
        2. Delay in developmental milestones.
      6. Sexual development
        1. Delayed or incomplete.
        2. Females - small number have had off spring (majority have had abnormality).
        3. Males - infertile.
      7. Aging
        1. Premature aging, with shortened life expectancy.
        2. Death - generally related to respiratory complications: repeated infections, pneumonia, lung disease.
    3. Analysis/nursing diagnosis:
      1. Risk for aspiration related to hypotonia.
      2. Altered nutrition, less than body requirements, related to hypotonia or congenital anomalies.
      3. Altered growth and development related to Down syndrome.
      4. Self-care deficit related to Down syndrome.
      5. Altered family processes related to birth of an infant with a congenital defect.
      6. Knowledge deficit related to Down syndrome.
    4. Nursing care plan/implementation:
      1. Goal: prevent physical complications.
        1. Respiratory
          1. Use bulb syringe to clear nose, mouth.
          2. Vaporizer.
          3. Frequent position changes.
          4. Avoid contact with people with up per - respiratory infections.
        2. Aspiration
          1. Small, more frequent feedings.
          2. Burp well during/after infant feedings.
          3. Allow sufficient time to eat.
          4. Position after meals: head of bed elevated, right side - or on stomach, with head to side.
        3. Observe for signs and symptoms of heart disease, constipation/GI obstruction, leukemia, thyroid dysfunction.
      2. Goal: meet nutritional needs.
        1. Suction (before meals) to clear airway.
        2. Adapt feeding techniques to meet special needs of infant/child; eg., use long, straight - handled spoon.
        3. Monitor height and weight.
        4. As child grows, monitor caloric intake (tends toward obesity).
        5. Offer foods high in bulk to prevent constipation related to hypotonia.
      3. Goal: promote optimal growth and development.
        1. Encourage parents to enroll infant/toddler in early stimulation program and to follow through with suggested exercises at home
        2. Preschool/school - age: special education classes.
        3. Screen frequently, using DDST to moni tor development.
        4. Help parents focus on “normal" or positive aspects of infant/child.
        5. Goal: health teaching.
          1. Explain that tongue - thrust behavior is normal and that food should be refed.
          2. Before adolescence - counsel parents and child about delay in sexual development, decreased libido, marriage and family relations.
          3. In severe cases assist parents to deal with issue of placement/institutionalization.
    5. Evaluation/outcome criteria:
      1. Physical complications are prevented.
      2. Adequate nutrition is maintained.
      3. Child attains optimal level of growth and development.