Review Article

Prader-Willi Syndrome: Clinical Aspects

Table 1

Published revised diagnostic criteria for PWS, Gunay-Aygun et al. [5].

Age at assessmentFeatures sufficient to prompt DNA testing

Birth to 2 yearsHypotonia with poor suck.

2–6 years(1) Hypotonia with history of poor suck.
(2) Global developmental delay.

6–12 years(1) History of hypotonia with poor suck (hypotonia often persists).
(2) Global developmental delay.
(3) Excessive eating (hyperphagia; obsession with food) with central obesity if uncontrolled.

13 years through adulthood(1) Cognitive impairment, usually mild mental retardation.
(2) Excessive eating (hyperphagia; obsession with food) with central obesity if uncontrolled.
(3) Hypothalamic hypogonadism and/or typical behavior problems (including temper tantrums  and obsessive-compulsive features).