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患有DYRK1A和SCN2A破坏性变异个体的视觉和听觉注意力。

Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants.

作者信息

Hudac Caitlin M, Dommer Kelsey, Mahony Monique, DesChamps Trent D, Cairney Brianna, Earl Rachel, Kurtz-Nelson Evangeline C, Bradshaw Jessica, Bernier Raphael A, Eichler Evan E, Neuhaus Emily, Webb Sara Jane, Shic Frederick

机构信息

Department of Psychology, University of South Carolina, Columbia, South Carolina, USA.

Center for Autism and Neurodevelopment (CAN) Research Center, University of South Carolina, Columbia, South Carolina, USA.

出版信息

Autism Res. 2024 Jul 30. doi: 10.1002/aur.3202.

DOI:10.1002/aur.3202
PMID:39080977
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11779982/
Abstract

This preliminary study sought to assess biomarkers of attention using electroencephalography (EEG) and eye tracking in two ultra-rare monogenic populations associated with autism spectrum disorder (ASD). Relative to idiopathic ASD (n = 12) and neurotypical comparison (n = 49) groups, divergent attention profiles were observed for the monogenic groups, such that individuals with DYRK1A (n = 9) exhibited diminished auditory attention condition differences during an oddball EEG paradigm whereas individuals with SCN2A (n = 5) exhibited diminished visual attention condition differences noted by eye gaze tracking when viewing social interactions. Findings provide initial support for alignment of auditory and visual attention markers in idiopathic ASD and neurotypical development but not monogenic groups. These results support ongoing efforts to develop translational ASD biomarkers within the attention domain.

摘要

这项初步研究旨在通过脑电图(EEG)和眼动追踪技术,评估与自闭症谱系障碍(ASD)相关的两个超罕见单基因群体的注意力生物标志物。相对于特发性ASD组(n = 12)和神经典型对照组(n = 49),单基因组观察到了不同的注意力特征,即携带DYRK1A基因的个体(n = 9)在oddball脑电图范式中听觉注意力条件差异减小,而携带SCN2A基因的个体(n = 5)在观看社交互动时通过眼动追踪观察到视觉注意力条件差异减小。研究结果为特发性ASD和神经典型发育中听觉和视觉注意力标志物的一致性提供了初步支持,但单基因组除外。这些结果支持了在注意力领域开发转化性ASD生物标志物的持续努力。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/288c/12123176/c52cddf4e5e2/AUR-18-909-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/288c/12123176/ab4c6a4efdfb/AUR-18-909-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/288c/12123176/5e8c81c49ef9/AUR-18-909-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/288c/12123176/427dbdcc9456/AUR-18-909-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/288c/12123176/c52cddf4e5e2/AUR-18-909-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/288c/12123176/ab4c6a4efdfb/AUR-18-909-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/288c/12123176/5e8c81c49ef9/AUR-18-909-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/288c/12123176/427dbdcc9456/AUR-18-909-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/288c/12123176/c52cddf4e5e2/AUR-18-909-g004.jpg

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Investigating the increased risk of schizophrenia and bipolar disorders in relatives of ADHD probands using colocalization analysis of common genetic variants.利用常见基因变异的共定位分析,研究注意缺陷多动障碍(ADHD)先证者亲属中精神分裂症和双相情感障碍风险增加的情况。
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Impaired cerebellar plasticity hypersensitizes sensory reflexes in SCN2A-associated ASD.
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Neuron. 2024 May 1;112(9):1444-1455.e5. doi: 10.1016/j.neuron.2024.01.029. Epub 2024 Feb 26.
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We know what attention is!我们知道注意力是什么!
Trends Cogn Sci. 2024 Apr;28(4):304-318. doi: 10.1016/j.tics.2023.11.007. Epub 2023 Dec 15.
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The Selective Social Attention task in children with autism spectrum disorder: Results from the Autism Biomarkers Consortium for Clinical Trials (ABC-CT) feasibility study.自闭症谱系障碍儿童的选择性社会注意任务:自闭症生物标志物联盟临床试验(ABC-CT)可行性研究的结果。
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