Cyto-Molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.
Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC, Australia.
J Neurodev Disord. 2018 Aug 6;10(1):24. doi: 10.1186/s11689-018-9242-0.
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.
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 region.
Participants with PWS had significantly higher overall and social affect calibrated severity scores (CSS) on the ADOS-2 compared to AS participants (p = .0055 and .0015, respectively), but the two groups did not differ significantly on CSS for the repetitive and restricted behaviour domain.
PWS cases presented with greater symptoms associated with ASD compared to individuals with AS. Mental health issues associated with PWS may contribute to elevated symptoms of ASD, particularly in adolescents and adults with PWS.
普拉德-威利综合征（PWS）和天使综合征（AS）是由 15q11-13 区域印迹基因异常表达引起的神经发育障碍。该区域基因的失调被认为是这两种疾病自闭症谱系障碍（ASD）的易感因素。
本研究旨在通过客观评估，探索 25 名 PWS 和 19 名 1-39 岁 AS 个体的 ASD 症状。参与者完成了自闭症诊断观察量表第二版（ADOS-2）和与发育或年龄相适应的智力功能评估。所有参与者均通过 DNA 甲基化分析和 15q11-13 区域内拷贝数变化的微阵列检测，确认了他们的基因诊断。
与 AS 参与者相比，PWS 参与者在 ADOS-2 上的总体和社交情感校准严重程度评分（CSS）显著更高（p=.0055 和.0015），但两组在重复和受限行为领域的 CSS 上没有显著差异。
与 AS 个体相比，PWS 病例表现出与 ASD 相关的更多症状。与 PWS 相关的心理健康问题可能导致 ASD 症状升高，尤其是在青少年和成年 PWS 患者中。
