Suggested Criteria for Prompting Molecular Testing for PWS
Age at Assessment . | Features Sufficient to Prompt DNA Testing . |
---|---|
Birth to 2 y | Significant hypotonia with poor suck and difficulty with weight gain |
2–6 y | Congenital hypotonia with history of poor suck; global developmental delay |
6–12 y | History of congenital hypotonia with poor suck (hypotonia often persists), global developmental delay, and excessive eating (hyperphagia; obsession with food) with central obesity if uncontrolled |
13 y through adulthood | Cognitive impairment, usually mild mental retardation, excessive eating (hyperphagia; obsession with food) with central obesity if uncontrolled, and hypothalamic hypogonadism and/or typical behavior problems (including temper tantrums and obsessive-compulsive features) |
Age at Assessment . | Features Sufficient to Prompt DNA Testing . |
---|---|
Birth to 2 y | Significant hypotonia with poor suck and difficulty with weight gain |
2–6 y | Congenital hypotonia with history of poor suck; global developmental delay |
6–12 y | History of congenital hypotonia with poor suck (hypotonia often persists), global developmental delay, and excessive eating (hyperphagia; obsession with food) with central obesity if uncontrolled |
13 y through adulthood | Cognitive impairment, usually mild mental retardation, excessive eating (hyperphagia; obsession with food) with central obesity if uncontrolled, and hypothalamic hypogonadism and/or typical behavior problems (including temper tantrums and obsessive-compulsive features) |
Adapted from Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB. Pediatrics. 2001;108(5). Available at: www.pediatrics.org/cgi/content/full/108/5/e92.