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：
这项初步研究试图在与自闭症谱系障碍（ASD）相关的两个超罕见单基因人群中使用脑电图（EEG）和眼动追踪来评估注意力的生物标志物。相对于特发性ASD（n=12）和神经典型比较（n=49）组，单基因组观察到不同的注意力分布，因此，DYRK1A（n=9）的个体在奇球EEG范式中表现出听觉注意力状况差异减少，而SCN2A（n=5）的个体在观看社交互动时通过眼睛注视跟踪发现视觉注意力状况差异减少。研究结果为特发性ASD和神经典型发育中听觉和视觉注意标记的对齐提供了初步支持，而不是单基因组。这些结果支持正在努力开发注意力领域内的翻译ASD生物标志物。
