Autism Spectrum Disorder in Children with Prader-Willi Syndrome

  • Author / Creator
    Bennett, Jeffrey A
  • Prader-Willi syndrome (PWS) is a genetic disorder caused by the lack of paternal expression from chromosome 15q11-13. The PWS phenotype includes hypotonia and failure to thrive during infancy, followed by hyperphagia, insatiable appetite, cognitive delay, problem behaviors, and social impairments in childhood. Various comparisons have been made between PWS and autism spectrum disorder (ASD), due to the overlap in phenotype of social impairment and problem behaviors, including restricted or repetitive behaviors. The study of ASD symptoms in individuals with PWS has largely been confined to older adolescents and adults, rather than younger children. This thesis contains two studies: first, a systematic review investigating the core ASD symptoms in PWS; and second, a descriptive study investigating ASD-related social communication impairment in younger children with PWS. The systematic review determined that no studies have had a mean age of less than eight years old, although some studies have found fewer ASD symptoms in children with PWS compared to adolescents and adults with PWS. The descriptive study used various assessments in children with PWS to measure ASD-related social communication impairment and general social skills, and to describe the social communication impairment that exists in children with PWS. We found disparity in results between the ASD questionnaires and the gold-standard ASD observational assessment (i.e. Autism Diagnostic Observation Schedule-2). Although our sample size was limited, this study paves the way for future studies to not only identify ASD symptoms in children with PWS, but also to determine the appropriateness of various ASD assessments within the PWS population. Additionally, future studies should determine appropriate early intervention for PWS children, focusing on their unique behavioural needs.

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  • Type of Item
  • Degree
    Master of Science
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    This thesis is made available by the University of Alberta Libraries with permission of the copyright owner solely for non-commercial purposes. This thesis, or any portion thereof, may not otherwise be copied or reproduced without the written consent of the copyright owner, except to the extent permitted by Canadian copyright law.