Down Syndrome

Down Syndrome 150 150 Tony Guo
  • Down Syndrome
    • Most common chromosome abnormality 
      • 1 per 691 to 1000 live births
      • Causes unknown; probably multiple
      • Occurs in populations of all races
    • Etiology
      • Nonfamilial trisomy 21 
        • Extra chromosome 21 in 95% of cases
      • Maternal age
        • Age 35: Risk is 1 per 350 births
        • Age 40: Risk is 1 per 100 births
    • Diagnostic Evaluation
      • Clinical manifestations
        • Head and Eyes
          • Separated sagittal suture
          • Brachycephaly
          • Rounded and small skull
          • Flat occiput
          • Enlarged anterior fontanel
          • Oblique palpebral fissures (upward, outward slant)
          • Inner epicanthal folds
          • Speckling of iris (Brushfield spots)
        • Nose and Ears
          • Small nose
          • Depressed nasal bridge (saddle nose)
          • Small ears and narrow canals
          • Short pinna (vertical ear length)
          • Overlapping upper helices
          • Conductive hearing loss
        • Mouth and Neck
          • High, arched, narrow palate
          • Protruding tongue
          • Hypoplastic mandible
          • Delayed teeth eruption and microdontia
          • Abnormal teeth alignment common
          • Periodontal disease
          • Neck skin excess and laxity
          • Short and broad neck
        • Chest and Heart
          • Shortened rib cage
          • Twelfth rib anomalies
          • Pectus excavatum or carinatum
          • Congenital heart defects common (e.g., atrial septal defect, ventricular septal defect)
        • Abdomen and Genitalia
          • Protruding, lax, and flabby abdominal muscles
          • Diastasis recti abdominis
          • Umbilical hernia
          • Small penis
          • Cryptorchidism
          • Bulbous vulva
        • Hands and Feet
          • Broad, short hands and stubby fingers
          • Incurved little finger (clinodactyly)
          • Transverse palmar crease
          • Wide space between big and second toes
          • Plantar crease between big and second toes
          • Broad, short feet and stubby toes
        • Musculoskeletal and Skin
          • Short stature
          • Hyperflexibility and muscle weakness
          • Hypotonia
          • Atlantoaxial instability
          • Dry, cracked, and frequent fissuring
          • Cutis marmorata (mottling)
        • Physical problems
          • Reduced birth weight
          • Learning difficulty (average intelligence quotient [IQ] of 50)
          • Hypothyroidism common
          • Impaired immune function
          • Increased risk for leukemia
          • Early-onset dementia (in one-third)
    • Therapeutic management
      • Available therapies
        • Surgery to correct congenital anomalies
        • Evaluation of hearing and sight
        • Periodic testing of thyroid function
      • Nursing alert
        • Persistent neck pain
        • Loss of established motor skills and bladder or bowel control
        • Changes in sensation
      • Prognosis
        • Life expectancy for those with Down syndrome has improved in recent years but remains lower than for the general population. 
        • Many individuals with Down syndrome survive to 60 years of age and beyond
        • As the prognosis continues to improve for these individuals, it will be important to provide for their long-term health care and social and leisure needs.
      • Care management
        • Supporting child’s family at time of diagnosis
          • Infants with Down syndrome are usually diagnosed at birth
            • Parents should be informed of the diagnosis at this time
            • Parental responses to the child may greatly influence decisions regarding future care. 
              • Some families willingly take the child home 
              • Others consider foster care or adoption. 
            • The nurse must answer questions regarding developmental potential carefully because the responses may influence the parents’ decision. 
            • The nurse should share the available informative sources (e.g., parent groups, professional counseling, and literature) to help the family learn about Down syndrome
        • Preventing of physical problems
          • Parents perceive hypotonicity of muscles and hyperextensibility of joints, almost flaccid extremities resemble the posture of a rag doll to their bodies as evidence of inadequate parenting. 
          • The extended body position promotes heat loss, because more surface area is exposed to the environment. 
          • Encourage the parents to swaddle or wrap the infant snugly in a blanket before picking up the child to provide security and warmth. 
          • The nurse also discusses with parents their feelings concerning attachment to the child, emphasizing that the child’s lack of clinging or molding is a physical characteristic and not a sign of detachment or rejection.
          • Decreased muscle tone compromises respiratory expansion. 
            • The underdeveloped nasal bone causes a chronic problem of inadequate drainage of mucus.
            • The constant stuffy nose forces the child to breathe by mouth, which dries the oropharyngeal membranes, increasing the susceptibility to upper respiratory tract infections.
            • Inadequate drainage resulting in pooling of mucus in the nose also interferes with feeding. 
              • Because the child breathes by mouth, sucking for any length of time is difficult. 
            • When eating solids, the child may gag on the food because of mucus in the oropharynx.
            • Parents are advised to clear the nose before each feeding; give small, frequent feedings; and allow opportunities for rest during mealtime.
          • Parents need to know that the tongue thrust is not an indication of refusal to feed but a physiologic response. 
          • Parents are advised to use a small but long, straight-handled spoon to push the food toward the back and side of the mouth.
          • Dietary intake needs supervision. 
            • Decreased muscle tone affects gastric motility, predisposing the child to constipation. 
            • Dietary measures, such as increased fiber and fluid, promote evacuation.
            • The child’s eating habits may need scrutiny to prevent obesity. 
            • Height and weight measurements should be obtained on a serial basis.
        • Assist in prenatal diagnosis and genetic counseling
          • Offer prenatal testing and genetic counseling to women of advanced maternal age and those who have a family history of the disorder.

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