DYRK1A和SCN2A破坏性变体个体的视觉和听觉注意力。

Caitlin M Hudac, Kelsey Dommer, Monique Mahony, Trent D DesChamps, Brianna Cairney, Rachel Earl, Evangeline C Kurtz-Nelson, Jessica Bradshaw, Raphael A Bernier, Evan E Eichler, Emily Neuhaus, Sara Jane Webb, Frederick Shic
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引用次数: 0

摘要

这项初步研究试图利用脑电图(EEG)和眼动追踪技术评估两个与自闭症谱系障碍(ASD)相关的超罕见单基因群体的注意力生物标志物。相对于特发性自闭症(n = 12)和神经畸形对比组(n = 49),单基因组观察到了不同的注意力特征,例如 DYRK1A 患者(n = 9)在奇球脑电图范式中表现出听觉注意力条件差异减弱,而 SCN2A 患者(n = 5)在观看社交互动时通过眼球注视跟踪观察到的视觉注意力条件差异减弱。研究结果初步支持了特发性 ASD 和神经发育异常群体中听觉和视觉注意力标记的一致性,但不支持单基因群体。这些结果支持了目前在注意力领域开发转化型 ASD 生物标记物的工作。
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Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants.

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.

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