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探讨孤独症谱系障碍患者中非学者型与学者型儿童社会反应差异的家族性作用。

Exploring the familial role of social responsiveness differences between savant and non-savant children with autism.

机构信息

Department of Cognitive and Brain Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.

Zlotowski Center for Neuroscience, Ben-Gurion University of the Negev, Beer Sheva, Israel.

出版信息

Sci Rep. 2020 Feb 10;10(1):2255. doi: 10.1038/s41598-020-59209-7.

Abstract

Savant syndrome is a phenomenon whereby individuals with cognitive impairments have one or more outstanding abilities, inconsistent with their general intellectual functioning. Approximately 50% of savant individuals have autism spectrum disorder (ASD), and 10-30% of people with ASD have savant skills. To shed additional light on this considerable overlap, we compared autistic traits as measured by the Social-Responsiveness-Scale (SRS) between 712 children with at least one reported savant skill, as determined by designated questions from the ADI-R questionnaire (savant group), and 2,032 non-savant children from the Simons-Simplex-Collection (SSC) database. We also examined SRS scores of the parents of these children and compared parent-child differences in SRS scores between the savant and non-savant groups. Savant children had significantly lower SRS scores (less deficiencies) compared to non-savant children (P < 0.05), while no such differences were observed among their parents. Further intra-familial analyses revealed weak pairwise-correlations (r = -0.015-0.141) between SRS scores of parents and their children, and significantly larger parent-child differences in standardized SRS scores within savant families (P < 0.05). These findings suggest that the less severe autistic traits among savant children with ASD compared to other people with ASD is not likely to be a familial trait.

摘要

学者症候群是一种现象,即认知障碍者具有一种或多种突出的能力,与他们的一般智力功能不一致。大约 50%的学者症候群个体患有自闭症谱系障碍(ASD),而 10-30%的 ASD 患者具有学者症候群技能。为了进一步阐明这种相当大的重叠现象,我们比较了由自闭症诊断观察量表(SRS)测量的自闭症特征,该量表测量了 712 名至少有一种被指定为 ADI-R 问卷(学者症候群组)的指定问题所报告的学者症候群技能的儿童,以及来自西蒙斯单纯性收藏(SSC)数据库的 2032 名非学者症候群儿童。我们还检查了这些儿童的父母的 SRS 分数,并比较了学者症候群组和非学者症候群组之间父母和孩子的 SRS 分数的差异。与非学者症候群儿童相比,学者症候群儿童的 SRS 分数(缺陷较少)显著降低(P<0.05),而他们的父母则没有这种差异。进一步的家庭内分析显示,父母和孩子的 SRS 分数之间存在微弱的两两相关(r=-0.015-0.141),并且在学者症候群家庭中标准化 SRS 分数的父母和孩子之间的差异更大(P<0.05)。这些发现表明,与其他 ASD 患者相比,ASD 学者症候群儿童的自闭症特征不那么严重,这不太可能是一种家族特征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dfb9/7010762/4eba384fa4f8/41598_2020_59209_Fig1_HTML.jpg

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