Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes
Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes
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DOI：
10.1186/s11689-018-9242-0
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发表时间：
2018-08-06
影响因子：
4.9
通讯作者：
Bretherton, Lesley
中科院分区：
文献类型：
--
作者：
Baker, Emma K.;Godler, David E.;Bretherton, Lesley
工作背景：Prader-Willi综合征（PWS）和Angelman综合征（AS）是由15 q11 -13区域的印迹基因异常表达引起的神经发育障碍。位于该区域的基因失调已被提出作为自闭症谱系障碍（ASD）在这两个disorder.Methods的易感因素：本研究旨在探讨ASD的症状，在25 PWS和19 AS个人年龄在1至39岁之间，通过客观的评估。参与者完成了自闭症诊断观察计划-第2版（ADOS-2）和发育或年龄适当的智力功能评估。所有参与者的基因诊断都是通过DNA甲基化分析和15 q11 -13区域内拷贝数变化的微阵列检测来确认的。与AS参与者相比，PWS参与者在ADOS-2上的总体和社会影响校准严重程度评分（CSS）显著更高（p = 0.0055和0.0015，分别），但两组没有显着差异CSS的重复和限制的行为domain.Conclusions：PWS的情况下提出了更大的症状与ASD相比，个人与AS。与PWS相关的心理健康问题可能导致ASD症状升高，特别是在患有PWS的青少年和成人中。
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 region.Results: 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.Conclusions: 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.