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Prader-Willi syndrome and autism spectrum disorders: an evolving story

Elisabeth M Dykens1, Evon Lee, Elizabeth Roof

  • 1Departments of Psychology and Human Development, Pediatrics and Psychiatry, Vanderbilt University, Vanderbilt Kennedy Center, Nashville, TN, USA, elisabeth.dykens@vanderbilt.edu.

Journal of Neurodevelopmental Disorders
|August 23, 2011
PubMed

Insights

Prader-Willi syndrome (PWS) shares core autism spectrum disorder (ASD) symptoms and comorbidities like psychiatric disorders and eating issues. Studying PWS offers insights into specific autism symptoms and related conditions.

Area of Science:

  • Genetics and Neurodevelopmental Disorders
  • Clinical Psychology and Psychiatry

Background:

  • Prader-Willi syndrome (PWS) is a complex genetic disorder caused by the absence of paternally imprinted material on chromosome 15q11-q13.
  • Individuals with PWS exhibit intellectual disabilities, behavioral issues (repetitive behaviors, tantrums, irritability), hyperphagia, and obesity risks.
  • Co-occurring autism spectrum disorders (ASDs), psychosis, and mood disorders are frequently observed in PWS.

Purpose of the Study:

  • To identify phenotypic overlaps and differences between PWS and ASD.
  • To assess autism symptoms within the PWS population.
  • To compare social, behavioral, and cognitive functioning between individuals with PWS and ASD.

Main Methods:

  • Review of existing literature on PWS and ASD.
  • Phenotypic analysis comparing core autism symptoms.
  • Examination of comorbidities including psychiatric disorders, sleep, and eating dysregulation.

Main Results:

  • Significant overlap exists in core autism symptoms between PWS and ASD.
  • Common comorbidities include psychiatric disorders and dysregulated eating and sleep patterns.
  • The PWS 15q11-q13 region is implicated in autism risk.

Conclusions:

  • PWS and ASD share considerable phenotypic characteristics and comorbidities.
  • Further research is warranted to elucidate the specific contributions of PWS to autism symptomatology.
  • PWS serves as a valuable model for understanding specific facets and comorbidities of autism.

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