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对自闭症患者的兄弟姐妹进行分组:识别更广泛的自闭症表型。

Subgrouping siblings of people with autism: Identifying the broader autism phenotype.

作者信息

Ruzich Emily, Allison Carrie, Smith Paula, Watson Peter, Auyeung Bonnie, Ring Howard, Baron-Cohen Simon

机构信息

Department of Psychiatry, Autism Research Centre, University of Cambridge, Douglas House, 18B Trumpington Road, Cambridge, CB2 8AH, UK.

Department of Psychiatry, Cambridge Intellectual and Developmental Disabilities Research Group, University of Cambridge, Douglas House, 18B Trumpington Road, Cambridge, CB2 8AH, UK.

出版信息

Autism Res. 2016 Jun;9(6):658-65. doi: 10.1002/aur.1544. Epub 2015 Sep 2.

DOI:10.1002/aur.1544
PMID:26332889
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4915503/
Abstract

We investigate the broader autism phenotype (BAP) in siblings of individuals with autism spectrum conditions (ASC). Autistic traits were measured in typical controls (n = 2,000), siblings (n = 496), and volunteers with ASC (n = 2,322) using the Autism-Spectrum Quotient (AQ), both self-report and parent-report versions. Using cluster analysis of AQ subscale scores, two sibling subgroups were identified for both males and females: a cluster of low-scorers and a cluster of high-scorers. Results show that while siblings as a group have intermediate levels of autistic traits compared to control individuals and participants with ASC, when examined on a cluster level, the low-scoring sibling group is more similar to typical controls while the high-scoring group is more similar to the ASC clinical group. Further investigation into the underlying genetic and epigenetic characteristics of these two subgroups will be informative in understanding autistic traits, both within the general population and in relation to those with a clinical diagnosis. Autism Res 2016, 9: 658-665. © 2015 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.

摘要

我们对自闭症谱系障碍(ASC)患者的兄弟姐妹的广义自闭症表型(BAP)进行了研究。使用自闭症谱系商数(AQ)的自我报告版和家长报告版,对典型对照组(n = 2000)、兄弟姐妹组(n = 496)以及患有ASC的志愿者组(n = 2322)进行自闭症特征测量。通过对AQ分量表得分进行聚类分析,确定了男性和女性的两个兄弟姐妹亚组:低分者聚类和高分者聚类。结果显示,虽然作为一个群体,兄弟姐妹的自闭症特征水平介于对照组个体和患有ASC的参与者之间,但在聚类水平上进行考察时,低分的兄弟姐妹组更类似于典型对照组,而高分组更类似于ASC临床组。对这两个亚组潜在的遗传和表观遗传特征进行进一步研究,将有助于理解普通人群以及与临床诊断患者相关的自闭症特征。《自闭症研究》2016年,9卷:658 - 665页。© 2015作者。《自闭症研究》由威利期刊公司代表国际自闭症研究协会出版。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a3b/4915503/d5217ffe0699/AUR-9-658-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a3b/4915503/abed70941659/AUR-9-658-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a3b/4915503/d5217ffe0699/AUR-9-658-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a3b/4915503/abed70941659/AUR-9-658-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a3b/4915503/d5217ffe0699/AUR-9-658-g002.jpg

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