与 SYNGAP1 相关的智力障碍的行为特征。

Damien Wright, Aisling Kenny, Lindsay A M Mizen, Andrew G McKechanie, Andrew C Stanfield
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引用次数: 0

摘要

本研究旨在描述 SYNGAP1-ID 患者的行为特征。30 名被诊断为 SYNGAP1-ID 的 3-18 岁儿童和 21 名发育正常儿童的家长/监护人填写了维尼兰-3 适应行为量表和儿童行为检查表。我们发现,与发育正常的对照组相比,SYNGAP1-ID 患儿在几乎所有领域都表现出较少的适应行为以及较高水平的内化和外化行为。有证据表明,这些差异在年龄较大的儿童中最为明显,在合并癫痫的儿童中更为明显。对 SYNGAP1-ID 表型的描述极大地帮助我们了解了这一人群的行为特征,并为开发有针对性的干预措施迈出了一步。
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The Behavioral Profile of SYNGAP1-Related Intellectual Disability.

This study aimed to describe the behavioral profile of individuals with SYNGAP1-ID. Parents/carers of 30 individuals aged 3-18 years old with a diagnosis of SYNGAP1-ID and 21 typically developing individuals completed the Vineland-3 Adaptive Behavior Scale and the Child Behavior Checklist. We found that those with SYNGAP1-ID showed fewer adaptive behaviors and higher levels of internalizing and externalizing behaviors across almost all domains compared to typically developing controls. There was some evidence that these differences were greatest in older children, and more apparent in those with co-occuring epilepsy. This characterization of the phenotype of SYNGAP1-ID significantly aids our understanding of the behavioral profile of this population and is a step towards the development of tailored interventions.

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来源期刊
CiteScore
3.10
自引率
4.80%
发文量
47
期刊介绍: The American Journal on Intellectual and Developmental Disabilities (Print ISSN: 1944–7515; Online ISSN: 1944–7558) is published by the American Association on Intellectual and Developmental Disabilities. It is a scientifi c, scholarly, and archival multidisciplinary journal for reporting original contributions of the highest quality to knowledge of intellectual disabilities, its causes, treatment, and prevention.
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