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简报:胚系 PTEN 突变个体中父母报告的执行功能和焦虑在坚持一致性中的作用。

Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations.

机构信息

Faculty of Medicine, Dentistry, and Health Sciences, Melbourne School of Psychological Sciences, The University of Melbourne, Victoria, Australia.

La Trobe University, Bundoora, VIC, 3086, Australia.

出版信息

J Autism Dev Disord. 2022 Jan;52(1):414-422. doi: 10.1007/s10803-021-04881-5. Epub 2021 Feb 17.

DOI:10.1007/s10803-021-04881-5
PMID:33595755
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8479547/
Abstract

This study aimed to characterize the relationship between insistence on sameness (IS), executive functioning (EF) and anxiety among individuals with PTEN mutations and individuals with macrocephalic ASD. The sample included 38 individuals with PTEN mutation and ASD diagnosis (PTEN-ASD; M = 8.93 years, SD = 4.75), 23 with PTEN mutation without ASD (PTEN-no ASD; M = 8.94 years; SD = 4.85) and 25 with ASD and macrocephaly but with no PTEN mutation (Macro-ASD; M = 11.99 years; SD = 5.15). The final model accounted for 45.7% of variance in IS, with Set-Shifting EF subdomain as a unique independent predictor (t = 4.12, p < 0.001). This investigation provides the first preliminary evidence for the EF-anxiety-IS interrelationship in individuals with PTEN mutations and with macrocephalic ASD.

摘要

本研究旨在描述坚持一致性(IS)、执行功能(EF)与具有 PTEN 突变的个体和大头 ASD 个体之间的焦虑之间的关系。样本包括 38 名具有 PTEN 突变和 ASD 诊断的个体(PTEN-ASD;M=8.93 岁,SD=4.75)、23 名具有 PTEN 突变但无 ASD 的个体(PTEN-no ASD;M=8.94 岁,SD=4.85)和 25 名具有 ASD 和大头畸形但无 PTEN 突变的个体(Macro-ASD;M=11.99 岁,SD=5.15)。最终模型解释了 IS 变异的 45.7%,其中转换 EF 子领域是一个独特的独立预测因子(t=4.12,p<0.001)。这项研究为具有 PTEN 突变和大头 ASD 的个体中 EF-焦虑-IS 的相互关系提供了初步证据。

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本文引用的文献

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Investigating associations between birth order and autism diagnostic phenotypes.研究出生顺序与自闭症诊断表型之间的关联。
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