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Int. J. Mol. Sci. 2017, 18(3), 517; doi:10.3390/ijms18030517

Investigating Autism-Related Symptoms in Children with Prader-Willi Syndrome: A Case Study

Department of Pediatrics, Faculty of Medicine and Dentistry, University of Alberta, 11405 87 Avenue, Edmonton, AB T6G1C9, Canada
Autism Research Centre-E209, Glenrose Rehabilitation Hospital, 10230 111 Avenue, Edmonton, AB T5G 0B7, Canada
Faculty of Rehabilitation Medicine, University of Alberta, 8205 114 Street, Edmonton, AB T6G 2G4, Canada
Author to whom correspondence should be addressed.
Academic Editor: Merlin G. Butler
Received: 21 January 2017 / Revised: 13 February 2017 / Accepted: 23 February 2017 / Published: 28 February 2017
View Full-Text   |   Download PDF [239 KB, uploaded 28 February 2017]


Prader-Willi syndrome (PWS), a rare genetic disorder caused by the lack of expression of paternal genes from chromosome 15q11-13, has been investigated for autism spectrum disorder (ASD) symptomatology in various studies. However, previous findings have been variable, and no studies investigating ASD symptomatology in PWS have exclusively studied children. We aimed to characterize social communication functioning and other ASD-related symptoms in children with PWS, and assessed agreement across measures and rates of ASD diagnosis. Measures included the Autism Diagnostic Observation Schedule-2 (ADOS-2), the Social Communication Questionnaire (SCQ), Social Responsiveness Scale-2 (SRS-2), Social Skills Improvement System-Rating Scales (SSIS-RS), and the Vineland Adaptive Behavioral Scales-II (VABS-II). General adaptive and intellectual skills were also assessed. Clinical best estimate (CBE) diagnosis was determined by an experienced developmental pediatrician, based on history and review of all available study measures, and taking into account overall developmental level. Participants included 10 children with PWS, aged 3 to 12 years. Three of the 10 children were male and genetic subtypes were two deletion (DEL) and eight uniparental disomy (UPD) (with a total of 6 female UPD cases). Although 8 of the 10 children exceeded cut-offs on at least one of the ASD assessments, agreement between parent questionnaires (SCQ, SRS-2, SSIS-RS) and observational assessment (ADOS-2) was very poor. None of the children were assigned a CBE diagnosis of ASD, with the caveat that the risk may have been lower because of the predominance of girls in the sample. The lack of agreement between the assessments emphasizes the complexity of interpreting ASD symptom measures in children with PWS. View Full-Text
Keywords: Prader-Willi syndrome; PWS; social communication; Autism Diagnostic Observation Schedule; ADOS; autism spectrum disorder; ASD Prader-Willi syndrome; PWS; social communication; Autism Diagnostic Observation Schedule; ADOS; autism spectrum disorder; ASD
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Bennett, J.A.; Hodgetts, S.; Mackenzie, M.L.; Haqq, A.M.; Zwaigenbaum, L. Investigating Autism-Related Symptoms in Children with Prader-Willi Syndrome: A Case Study. Int. J. Mol. Sci. 2017, 18, 517.

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