Syndrome down

Down Syndrome

A. Introduction Down Syndrome (trisomy 21; mongolism) is a chromosomal abnormality involving an extra chromosome # 21 and resulting in 47 chromosome instead of the normal 46 chromosomes. As a consequence, the child usually presents with varying degrees of mental retardation, characteristic facial and physical features, and other congenital anomalies. B. Assessment : 1. Physical Characteristics a. Brachycephalic (small, round head) with oblique palpebral fissures (oriental eyes) and Brushfield's spots (speckling of iris), depressed nasal bridge (saddle nose) and small, low set ears. b. Mouth - Small oral cavity with protuding tongue causes difficulty sucking and swallowing. - Delayed eruption/misalignment of teeth. c. Hands - Clinodactily-in curved little finger - simian crease tranverse palmar crease. d. Muscle : hypotonic (floppy baby) with hyperextensible joints) 2. Genetic studies reveal an extra chromosomes # 21. 3. Intellectual characteristics a. Mental retardation b. Most fall within trainable range, or IQ =36-51 (moderate mental retardation) 4. Congenital anomalies/disease a. 30-40% have congenital heart defects. b. GI : Tracheoesophageal fistula, hirschprung's disease. c. Thyroid dysfunction, especially hypothyroidism. d. Visual effects (cataracts, strabismus). e. Hearing Loss f. Increased incidences of Leukemia. 5. Growth and Development a. Slow growth, espcially in height b. Delay in delopmental milestones 6. Sexual development a. Delayed or incomplete. b. Females-Small number have had off-spring (majority have had abnormality) ç. Males Infertilie 7. Aging a. Premature aging, with shortened life expectancy. b. Death usually before age 40-generally related to respiratory complication : repeated infections, pneumonia, lung disease.