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

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 methylation analysis and microarray testing of copy number changes within the 15q11-13 regi

SUBMITTER: Baker EK 

PROVIDER: S-EPMC6091196 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature