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Table 2 Indications for DNA testing

From: Prader-Willi syndrome: A primer for clinicians

Age at assessment

Features sufficient to prompt DNA testing

Birth to 2 yr

Hypotonia with poor suck

2-6 yr

Hypotonia with a history of poor suck

 

Global developmental delay

 

Short stature and/or growth failure associated with accelerated weight gain

6-12 yr

Hypotonia with a history of poor suck (hypotonia often persists)

 

Global developmental delay

 

Excessive eating (hyperphagia, obsession with food) with central obesity if uncontrolled

 

Short stature and/or decreased growth velocity*

13 yr through adulthood

Cognitive impairment, usually mild mental retardation

 

Excessive eating (hyperphagia, obsession with food) with central obesity if uncontrolled

 

Short stature and/or decreased growth velocity*

 

Hypothalamic hypogonadism and/or typical behavior problems (including temper tantrums and obsessive-compulsive features)

  1. *Features added by the authors