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TABLE 2. Suggested New Criteria to Prompt DNA Testing for PWS

Age at Assessment Features Sufficient to Prompt DNA Testing

Birth to 2 y 1. Hypotonia with poor suck.
2y–6 y 1. Hypotonia with history of poor suck.
2. Global developmental delay.
6y–12 y 1. History of hypotonia with poor suck (hypotonia often persists).
2. Global developmental delay.
3. Excessive eating (hyperphagia; preoccupation with food) with central obesity if uncontrolled.
13 y through adulthood 1. Cognitive disabilities; usually mild mental retardation.
2. Excessive eating (hyperphagia; preoccupation with food) with central obesity if uncontrolled.
3. Hypothalamic hypogonadism and/or typical behavior problems (including temper tantrums, perseverative and compulsive-like behaviors).

TABLE 3. Sensitivities and the Percentages of Documentation of the Published Criteria

% Affected
Major criteria
Neonatal hypotonia 88
Feeding problems in infancy 79
Excessive weight gain 67
Facial features 88
Hypogonadism 51
Developmental delay 99
Hyperphagia 84
Minor criteria
Decreased fetal activity 62
Behavior problems 87
Sleep disturbance/sleep apnea 76
Short stature 63
Hypopigmentation 73
Small hands and/or feet 88
Narrow hands/straight 82
ulnar borders
Eye abnormalities 68
Thick viscous saliva 89
Articulation defects 80
Skin-picking 83
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