Trisomy 21 (Down Syndrome)

Key Features

• Occurs in about 1:700 newborns

• Cognitive disabilities in the mild/moderate range

• Generalized hypotonia

• Prolonged physiologic jaundice

• Transient blood count abnormalities

• Feeding problems and constipation common during infancy

Clinical Findings

• Flattened occiput

• Characteristic facies

  • Upslanting palpebral fissures

  • Epicanthal folds

  • Midface hypoplasia

  • Small, dysplastic pinnae

• Minor limb abnormalities

• About 33–50% of children have congenital heart disease, most often endocardial cushion defects or other septal defects

• Anomalies of the gastrointestinal tract, including esophageal and duodenal atresias, are seen in about 15% of cases

Diagnosis

• Problems that may develop during childhood include

  • Thyroid dysfunction

  • Visual issues

  • Hearing loss

  • Obstructive sleep apnea

  • Celiac disease

  • Atlanto-occipital instability

  • Autism

• Leukemia is 12–20 times more common in patients with Down syndrome

Treatment

• Interventions for specific issues indicated

  • Surgical intervention for cardiac and gastrointestinal anomalies

  • Screening for autoimmune disorders, such as hypothyroidism and celiac disease

  • Developmental supports, such as

    • Infant stimulation programs

    • Special education

    • Physical, occupational, and speech therapies

• Parents' participation in support groups such as the local chapter of the National Down Syndrome Congress should be encouraged (see http://www.ndss.org/)