Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy

Am J Ment Retard. 1999 Jan;104(1):67-77. doi: 10.1352/0895-8017(1999)104<0067:MBDIPS>2.0.CO;2.


Maladaptive behavior was compared across 23 people with Prader-Willi syndrome due to paternal deletion to 23 age- and gender-matched subjects with maternal uniparental disomy. Controlling for the higher IQs of the uniparental disomy group, deleted cases showed significantly higher maladaptive ratings on the Child Behavior Checklist's Internalizing, Externalizing, and Total domains as well as more symptom-related distress on the Yale-Brown Obsessive-Compulsive Scale. Across both measures, deleted cases were more apt to skin-pick, bite their nails, hoard, overeat, sulk, and withdraw. A dampening of symptom severity is suggested in Prader-Willi syndrome cases due to maternal uniparental disomy. Findings are compared to Angelman syndrome, and possible genetic mechanisms are discussed, as are implications for Prader-Willi syndrome and obsessive-compulsive behaviors.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child Behavior Disorders / diagnosis
  • Child Behavior Disorders / genetics*
  • Child, Preschool
  • Chromosome Aberrations / genetics*
  • Chromosome Deletion
  • Female
  • Genomic Imprinting / genetics*
  • Humans
  • Male
  • Obsessive-Compulsive Disorder / diagnosis
  • Obsessive-Compulsive Disorder / genetics*
  • Obsessive-Compulsive Disorder / psychology
  • Phenotype
  • Prader-Willi Syndrome / diagnosis
  • Prader-Willi Syndrome / genetics*
  • Prader-Willi Syndrome / psychology
  • Psychiatric Status Rating Scales / statistics & numerical data