These guidelines are designed to assist the pediatrician in caring for the child in whom the diagnosis of Down syndrome has been confirmed by karyotype. Although the pediatrician's initial contact with the child is usually during infancy, occasionally the pregnant woman who has been given the prenatal diagnosis of Down syndrome will be referred for advice. Therefore, these guidelines offer advice for this situation as well.
Children with Down syndrome have multiple malformations and mental retardation due to the presence of extra genetic material from chromosome 21. Although the phenotype is variable, usually there is enough consistency to enable the experienced clinician to suspect the diagnosis. Among the more common physical features are hypotonia, small brachycephalic head, epicanthic folds, flat nasal bridge, upward slanting palpebral fissures, Brushfield spots, small mouth, small ears, excess skin at the nape of the neck, single transverse palmar crease, and short fifth finger with clinodactyly. A wide space, often with a deep fissure, between the first and second toes is also common. The degree of mental retardation is variable, ranging from mild (IQ, 50 to 70) to moderate (IQ, 35 to 50), and only occasionally to severe (IQ, 20 to 35). There is an increased risk of congenital heart disease (50%); leukemia (<1%); deafness (75%); serous otitis media (50% to 70%); Hirschsprung disease (<1%); gastrointestinal atresias (12%); eye disease (60%), including cataracts (15%) and severe refractive errors (50%); acquired hip dislocation (6%); and thyroid disease (15%). Social quotient may be improved with early intervention techniques.
- Copyright © 1994 by the American Academy of Pediatrics