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患有威廉姆斯综合征且具有短语言语或流利语言的儿童的自闭症谱系症状。

Autism Spectrum Symptomatology in Children with Williams Syndrome Who Have Phrase Speech or Fluent Language.

机构信息

Department of Psychology, University of Wisconsin-Milwaukee, P.O. Box 413, Milwaukee, WI, 53201, USA.

Northwest Kaiser Permanente, 3550 N Interstate Avenue, Portland, OR, 97227, USA.

出版信息

J Autism Dev Disord. 2018 Sep;48(9):3037-3050. doi: 10.1007/s10803-018-3555-4.

DOI:10.1007/s10803-018-3555-4
PMID:29671106
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6082683/
Abstract

To characterize autism spectrum-related symptomatology in children with Williams syndrome (WS) with phrase speech or fluent language, the Autism Diagnostic Observation Schedule Module 2 or 3 was administered. The cutoff for autism spectrum was met by 35% (14/40) who completed Module 2 and 30% (18/60) who completed Module 3. Similarities and differences in socio-communicative strengths and weaknesses as a function of language ability were identified. Symptom severity was negatively associated with IQ for participants with phrase speech but not for those with fluent language. The findings suggest an elevated risk of ASD for individuals with WS relative to the general population and contribute to a more nuanced sense of the socio-communicative functioning of children with WS.

摘要

为了描述具有短语言语或流畅语言的威廉姆斯综合征(WS)儿童的自闭症谱系相关症状,使用自闭症诊断观察量表模块 2 或 3 进行了评估。完成模块 2 的儿童中有 35%(14/40)符合自闭症谱系的标准,完成模块 3 的儿童中有 30%(18/60)符合自闭症谱系的标准。确定了语言能力对社会交际能力强弱的相似和差异。对于具有短语言语的参与者,症状严重程度与智商呈负相关,但对于具有流畅语言的参与者则不是。这些发现表明,WS 个体患 ASD 的风险相对一般人群较高,并有助于更细致地了解 WS 儿童的社会交际功能。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e6b2/6082683/8423df04817f/nihms961129f5.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e6b2/6082683/8423df04817f/nihms961129f5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e6b2/6082683/94b29abadf08/nihms961129f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e6b2/6082683/1ef26df65fea/nihms961129f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e6b2/6082683/829bd74b87c8/nihms961129f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e6b2/6082683/c572d295fd37/nihms961129f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e6b2/6082683/8423df04817f/nihms961129f5.jpg

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Brief Report: Repetitive Behaviour Profiles in Williams syndrome: Cross Syndrome Comparisons with Prader-Willi and Down syndromes.简要报告:威廉姆斯综合征的重复行为特征:与普拉德-威利和唐氏综合征的跨综合征比较。
J Autism Dev Disord. 2018 Jan;48(1):326-331. doi: 10.1007/s10803-017-3319-6.
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Williams syndrome deletions and duplications: Genetic windows to understanding anxiety, sociality, autism, and schizophrenia.
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Sci Rep. 2023 Oct 26;13(1):18397. doi: 10.1038/s41598-023-45521-5.
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Heterogeneity of Autism Characteristics in Genetic Syndromes: Key Considerations for Assessment and Support.遗传综合征中自闭症特征的异质性:评估与支持的关键考量因素
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