RISK FACTORS :
. Increases with mothers age:
. 1/2000, age 20
. 1/200, age 35
. 1/100, age 37
. 1/20, age 45
APPROPRIATE HEALTH CARE :
• Genetic evaluation and counseling
• Cardiac evaluation and ECG
• Appropriate pediatric health care
• Thyroid testing for any reasons (slowing of growth or weight gain, constipation) and thyroid treatment
GENERAL MEASURES :
• Parents can usually adapt to a special child
• Most important is to address parental fears and treat the infant normally
• Infant stimulation programs recommended, but definitive proof of effectiveness is lacking
ALTERNATIVE DRUGS :
• Current enthusiasm for neural enhancers, e.g., piracetam, a GABA analog, not proven, but under study
• Experimental evidence that Vitamin E prolongs the life of DS neurons in tissue culture
PATIENT MONITORING :
. 1 or 2 subsequent genetic visits to complete counseling and a visit at 1-2 years
. Follow cardiac status carefully
. Thyroid and possibly cardiac investigation if growth rate decreased
PREVENTION/AVOIDANCE :
. Prenatal chorion villus biopsy at 9-10 weeks and amniocentesis at 13-15 weeks
. A low screening maternal serum alpha-fetoprotein (MSAFP), and abdominal triple screen at 14-16 weeks
gestation finds 50-60% of cases
. Prenatal testing recommended for all pregnant females over 35, but this only impacts 25% of cases
. Recurrence:
. 1% for trisomy 21 if child has trisomy 21
. Is one-fi fth to one-sixth for parents with a balanced translocation
. If the parental translocation is 21:21 (45,t (21:21)), the recurrence is 100%
. Increased recurrence in families with mosaic Down syndrome is not clear, but prenatal testing is recommended
POSSIBLE COMPLICATIONS :
. Bowel obstruction (fi stula, intestinal anomalies [10%])
. Hirschsprungfs disease (3%)
. Thyroid disease (hypo-and hyperthyroidism 5-8%)
. Leukemia (0.5%)
. Congenital heart disease (50%) especially endocardial cushion defect, ventricular septal defect
. Alzheimer disease
. Seizures (3-4%)
EXPECTED COURSE/PROGNOSIS :
. Development is normal in the fi rst year in about one third of cases and mildly delayed in the rest
. Development slows after age 1 and language and cognition are moderately delayed
. The outcome and longevity may be dependent on congenital heart disease
. Some adult individuals can work in protected situations; a few largely independent
. Intestinal complications and congenital heart disease may be of immediate concern
. Hypothyroid disease occurs after 6 months when found, and diminished growth is the principal sign
. Clinical Alzheimer disease in 1/3 of patients after age 35
. There is premature aging. Most patients die at 50-60, earlier if there is heart disease.