Criteria
Selection criteria for genetic testing[44]
Certain clinical features by age have been proposed to help determine which patients with suspected Prader-Willi syndrome should be considered for genetic testing.[2][44] These are based on earlier consensus diagnostic criteria developed in 1993 before definitive diagnostic testing was available.[2][45] The revised diagnostic criteria are intended to raise diagnostic suspicion, ensure that all appropriate people are tested, and avoid the expense of testing unnecessarily.[44]
Age at assessment and features that should prompt genetic testing:
0 to 2 years: significant hypotonia with poor suck and difficulty with weight gain (typically difficulty with weight gain resolves by 9 months)
2 to 6 years: congenital hypotonia with history of poor suck; global developmental delay
6 to 12 years: 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 years: cognitive impairment, usually mild intellectual disability, 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).
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