Journal article
Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes
EK Baker, DE Godler, M Bui, C Hickerton, C Rogers, M Field, DJ Amor, L Bretherton
Journal of Neurodevelopmental Disorders | BMC | Published : 2018
Abstract
Background: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders that are caused by abnormal expression of imprinted genes in the 15q11-13 region. Dysregulation of genes located in this region has been proposed as a susceptibility factor for autism spectrum disorder (ASD) in both disorders. Methods: This study aimed to explore symptoms of ASD in 25 PWS and 19 AS individuals aged between 1 and 39 years via objective assessment. Participants completed the Autism Diagnostic Observation Schedule-2nd Edition (ADOS-2) and a developmentally or age-appropriate intellectual functioning assessment. All participants had their genetic diagnosis confirmed using DNA meth..
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Awarded by National Science Foundation
Funding Acknowledgements
This study was supported by the Victorian Government's Operational Infrastructure Support Program, with the salaries supported by NHMRC project grants (no. 104299 and no. 1103389 to D.E.G.); Murdoch Children's Research Institute, Royal Children's Hospital Foundation (D.E.G.); Next Generation Clinical Researchers Program-Career Development Fellowship, funded by the Medical Research Future Fund (MRF1141334 to D.E.G.); the Financial Markets Foundation for Children (Australia) (no. 2017-361 to D.E.G. and D.J.A.); the Genetics of Learning Disability (GOLD) Service (M.J.F.); The Foundation for Prader-Willi Syndrome Research, USA (grant no. 43445 and no. 501393 to D.E.G. and D.J.A.) and joint funding from the Prader-Willi Syndrome Association (Australia), Foundation for Angelman Syndrome Therapeutics (Australia) and Dup15q Australia Ltd.