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. 2014 Jan 21;3(1):144–152. doi: 10.3390/jcm3010144

Table 1.

Disorders and key characteristics presented to participants.

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.