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Autism Spectrum Disorder in Children with Prader-Willi Syndrome Open Access


Other title
autism spectrum disorder
prader-willi syndrome
Type of item
Degree grantor
University of Alberta
Author or creator
Bennett, Jeffrey A
Supervisor and department
Zwaigenbaum, Lonnie (Pediatrics)
Haqq, Andrea (Pediatrics)
Examining committee member and department
Yager, Jerome (Pediatrics)
Hodgetts, Sandra (Occupational Therapy)
Medical Sciences-Paediatrics

Date accepted
Graduation date
Master of Science
Degree level
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.
Permission is hereby granted to the University of Alberta Libraries to reproduce single copies of this thesis and to lend or sell such copies for private, scholarly or scientific research purposes only. The author reserves all other publication and other rights in association with the copyright in the thesis and, except as herein before provided, neither the thesis nor any substantial portion thereof may be printed or otherwise reproduced in any material form whatsoever without the author's prior written permission.
Citation for previous publication
Bennett JA, Germani T, Haqq AM, Zwaigenbaum L. 2015. Autism Spectrum Disorder in Prader-Willi Syndrome: A Systematic Review. American Journal of Medical Genetics, Part A. In Press.

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