Neonatal ABRs and Heritable Risk for ASD

摘要 这项建议的目标是评估测量点击诱发的听觉脑干反应的可行性 (ABR)在患自闭症谱系障碍(ASD)遗传风险不同的婴儿中进行分析，并计算 效应大小的初步估计。点击诱发的ABR是事件相关电位，它反映了 从耳蜗头到嘴的宽带声刺激(即短声)的电生理处理 脑干。ABR由5个不同的波(I-V)组成，可以从中得出潜伏期和幅度 认为反映了树突分支、髓鞘形成和神经元放电的同步性的程度 中枢听觉通路中的核团。研究表明，点击诱发的ABR参数和ASD 这些协会的规模是中等到较大的，特别是在儿童中。然而，它是 不清楚ABR改变是否先于ASD诊断。为了解决这一概念和经验上的差距 文献中，我们将比较ASD可遗传风险不同的两组婴儿的ABR参数： 1)有一个较年长的兄弟姐妹被诊断为患有自闭症的婴儿(风险较高；n=18)，以及2)胎龄和性别- 没有兄弟姐妹被诊断为ASD的配对婴儿(风险较低；n=18)。参与者将是 在麻雀医院(密歇根州兰辛)招募，并在一个月大时被邀请参加实验室访问(+1 周)。在这次实验室访问中，一位有执照的听力专家将进行全面的中耳检查，ABR 阈值屏幕和诊断级ABR。如果ABR的病因和/或预测价值在 随后的调查，与该项目启动的研究有可能将ASD风险转化为 监测和获得早期干预的机会。

Abstract The goal of this proposal is to evaluate the feasibility of measuring click-evoked auditory brainstem responses (ABRs) among infants who vary in heritable risk for autism spectrum disorder (ASD) and to calculate preliminary estimates of effect size. Click-evoked ABRs are event-related potentials that reflect the electrophysiological processing of broadband acoustic stimuli (i.e., clicks) from the cochlea through the rostral brainstem. ABRs consist of 5 distinct waves (I-V) from which latencies and amplitudes can be derived, values thought to reflect the degree of dendritic branching, myelination, and synchrony of neuronal firing between nuclei in the central auditory pathway. Studies suggest that click-evoked ABR parameters and ASD are associated and that these associations are medium to large in size, particularly in children. However, it is unclear whether ABR alterations precede ASD diagnosis. To address this conceptual and empirical gap in the literature, we will compare ABR parameters between two groups of infants who vary in heritable risk for ASD: 1) babies who have an older sibling diagnosed with ASD (higher risk; n=18), and 2) gestational age- and sex- matched babies who do not have any siblings diagnosed with ASD (lower risk; n=18). Participants will be recruited at Sparrow Hospital (Lansing, MI) and invited to participate in a lab visit at one month of age (+ 1 week). At this lab visit, a licensed audiologist will perform a comprehensive middle ear examination, an ABR threshold screen, and a diagnostic-level ABR. If the etiologic and/or predictive value of ABRs is supported in subsequent investigations, the research initiated with this project has the potential to transform ASD risk surveillance and access to early interventions.