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.
|
|
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 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;34:917–923
Last edited
06/10/2009
| 