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父母中自闭症遗传易感性的发育标志物:一项纵向多代研究。

Developmental Markers of Genetic Liability to Autism in Parents: A Longitudinal, Multigenerational Study.

作者信息

Losh Molly, Martin Gary E, Lee Michelle, Klusek Jessica, Sideris John, Barron Sheila, Wassink Thomas

机构信息

Department of Communication Sciences and Disorders, Northwestern University, Frances Searle, 2240 N Campus Dr., Evanston, IL, 60208, USA.

Department of Communication Sciences and Disorders, St. John's University, Staten Island, NY, 10301, USA.

出版信息

J Autism Dev Disord. 2017 Mar;47(3):834-845. doi: 10.1007/s10803-016-2996-x.

DOI:10.1007/s10803-016-2996-x
PMID:28070788
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5352796/
Abstract

Genetic liability to autism spectrum disorder (ASD) can be expressed in unaffected relatives through subclinical, genetically meaningful traits, or endophenotypes. This study aimed to identify developmental endophenotypes in parents of individuals with ASD by examining parents' childhood academic development over the school-age period. A cohort of 139 parents of individuals with ASD were studied, along with their children with ASD and 28 controls. Parents' childhood records in the domains of language, reading, and math were studied from grades K-12. Results indicated that relatively lower performance and slower development of skills (particularly language related skills), and an uneven rate of development across domains predicted ASD endophenotypes in adulthood for parents, and the severity of clinical symptoms in children with ASD. These findings may mark childhood indicators of genetic liability to ASD in parents, that could inform understanding of the subclinical expression of ASD genetic liability.

摘要

自闭症谱系障碍(ASD)的遗传易感性可通过亚临床、具有遗传意义的特征或内表型在未受影响的亲属中表现出来。本研究旨在通过考察父母在学龄期的童年学业发展情况,来确定自闭症个体父母的发育内表型。对139名自闭症个体的父母及其自闭症子女和28名对照进行了队列研究。研究了父母从幼儿园到12年级在语言、阅读和数学领域的童年记录。结果表明,技能表现相对较低且发展较慢(尤其是与语言相关的技能),以及各领域发展速度不均衡,预示着父母成年后会出现自闭症内表型,以及自闭症儿童临床症状的严重程度。这些发现可能标志着父母患自闭症遗传易感性的童年指标,有助于理解自闭症遗传易感性的亚临床表现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/29a7/5352796/08c837bf7565/10803_2016_2996_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/29a7/5352796/08c837bf7565/10803_2016_2996_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/29a7/5352796/08c837bf7565/10803_2016_2996_Fig1_HTML.jpg

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本文引用的文献

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A cross-cultural study showing deficits in gaze-language coordination during rapid automatized naming among individuals with ASD.一项跨文化研究表明,自闭症个体在快速眼动命名任务中存在眼神-语言协调缺陷。
Sci Rep. 2021 Jun 28;11(1):13401. doi: 10.1038/s41598-021-91911-y.
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