Suppr超能文献

遗传条件与自闭症相关的视觉处理:16p11.2 缺失症个体与年龄匹配对照者的双眼竞争行为研究

Visual processing in genetic conditions linked to autism: A behavioral study of binocular rivalry in individuals with 16p11.2 deletions and age-matched controls.

机构信息

Department of Psychological and Brain Sciences, Dartmouth College, Hanover, New Hampshire, USA.

Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.

出版信息

Autism Res. 2023 Apr;16(4):831-840. doi: 10.1002/aur.2901. Epub 2023 Feb 7.

Abstract

Close phenotypic characterization of individuals with genetic conditions linked to autism provides a promising approach to navigating the heterogeneity of autism spectrum conditions. The current study investigated sensory processing in individuals with a rare genetic event that is highly penetrant for autism, 16p11.2 deletions, using a well-characterized visual paradigm, binocular rivalry, which is thought to be a non-invasive index of excitatory/inhibitory balance in the visual cortex. We characterized rivalry dynamics in 45 adolescent and adult individuals (19 individuals with 16p11.2 deletions, 26 age-matched neurotypical controls). We found that binocular rivalry perceptual transition rates were significantly slower for individuals with 16p11.2 deletions, relative to controls. Importantly, these results could not be accounted for by differences in motor response latencies or perceptual decision criteria, which were matched between groups. Results should be interpreted with caution given the unmatched psychometric features between groups, such as IQ. Future studies should study visual processing in other genetic groups linked to autism beyond 16p to understand the specificity of these findings. These results highlight the importance of characterizing sensory functions in individuals with genetic alterations associated with autism.

摘要

对与自闭症相关的遗传疾病个体进行表型特征的密切分析,为探索自闭症谱系障碍的异质性提供了一种很有前景的方法。本研究使用一种经过充分验证的视觉范式——双眼竞争,来研究一种与自闭症高度相关的罕见遗传事件(16p11.2 缺失)个体的感觉处理情况。该范式被认为是视觉皮层中兴奋/抑制平衡的非侵入性指标。我们对 45 名青少年和成年个体(19 名携带 16p11.2 缺失的个体,26 名年龄匹配的神经典型对照)的竞争动态进行了特征描述。我们发现,与对照组相比,携带 16p11.2 缺失的个体的双眼竞争感知转换率明显较慢。重要的是,这些结果不能用运动反应潜伏期或感知决策标准的差异来解释,这些差异在组间是匹配的。鉴于组间的心理计量特征不匹配,如智商,结果应谨慎解释。未来的研究应该在自闭症相关的其他遗传群体中研究视觉处理,以了解这些发现的特异性。这些结果强调了在与自闭症相关的遗传改变个体中描述感觉功能的重要性。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验