Journal article

Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes

Emma K Baker, David E Godler, Minh Bui, Chriselle Hickerton, Carolyn Rogers, Mike Field, David J Amor, Lesley 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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Grants

Awarded by NHMRC project grants


Awarded by Next Generation Clinical Researchers Program-Career Development Fellowship - Medical Research Future Fund


Awarded by Financial Markets Foundation for Children (Australia)


Awarded by Foundation for Prader-Willi Syndrome Research, USA


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.