Table 1.
Disorder | Main features | Treatment * |
---|---|---|
Down syndrome | ID, typical facial features, medical issues; life expectancy, 60 s | As needed; none for ID |
Fragile X | ID, facial features, behavioral/autistic issues; normal life expectancy | None |
PKU | Metabolic disorder, ID without rx, good outcome with treatment, rx somewhat time consuming/intense; normal life expectancy | Dietary |
CHD | Outcomes vary, usually no other abnormalities; somewhat shortened to normal life expectancy | Surgical |
SMA | Severe hypotonia, respiratory failure; death by age 2 | None |
Cystic fibrosis | pulmonary/pancreatic dysfunction, significant medical problems; life expectancy, late 30 s | Medical |
* Refers to medical treatment, as opposed to educational interventions; ID = intellectual disability; PKU = phenylketonuria; CHD = congenital heart defect; SMA = spinal muscular atrophy; rx = treatment.