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Diagnostic Criteria for Prader-Willi Syndrome

TABLE 3. 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.
 

2y6 y

1. Hypotonia with history of poor suck.
2. Global developmental delay.
 

6y12 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 2. 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

Modified from PEDIATRICS (ISSN 0031 4005) Vol. 108 No. 5, Pages 5, Copyright 2001 by the AAP

Reference:
Meral Gunay-Aygun, Stuart Schwartz, Shauna Heeger, Mary Ann O'Riordan and Suzanne B. Cassidy Pediatrics 2001;108;92-DOI: 10.1542/peds.108.5.e92 

Cassidy SB. Prader-Willi syndrome. J Med Genet. 1997;34:917923

Last edited 02/09/2012

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