Look duration at the face as a developmental endophenotype: elucidating pathways to autism and ADHD
Look duration at the face as a developmental endophenotype: elucidating pathways to autism and ADHD
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DOI：
10.1017/s0954579420000930
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发表时间：
2020-10-01
影响因子：
3.3
通讯作者：
Jones, Emily J. H.
中科院分区：
文献类型：
--
作者：
Gui, Anna;Mason, Luke;Jones, Emily J. H.
确定遗传和行为之间通路的发育内表型对于揭示神经发育条件的机制至关重要。在这项原理证明研究中，我们探讨了视觉注意力的早期中断是否是自闭症谱系障碍（ASD）和注意力缺陷/多动障碍（ADHD）的独特或共同的候选内表型。在一项基于阵列的眼球追踪任务中，我们计算了335名14个月大的婴儿的最长注视时间（即峰值注视），这些婴儿有或没有一级亲属患有ASD和/或ADHD。我们利用这些婴儿中一部分的父母报告和基因型数据来评估外貌行为与家族（n = 285）和遗传倾向（使用多基因评分，n = 185）的关系，以及2岁时ASD和ADHD相关的气质特征（分别为害羞和抑制控制，n = 272）和6岁时ASD和ADHD临床特征（n = 94）的关系。结果显示，较长的面部峰值与ADHD多基因评分升高相关（β = 0.078, p = 0.023），但与ASD无关（β = 0.002, p = 0.944），与儿童中期ADHD特征升高相关(F(1,88) = 6.401, p = 0.013, eta(2)(p)=0.068；ASD: F (1,88) = 3.218, p = 0.076)，幼儿期无差异（ps > 0.2）。当考虑面部和非面部刺激的平均峰值注视时间时，这种结果模式没有出现。因此，自发性视觉探索过程中对面部注意力的改变可能更符合ADHD而非ASD的发育内表型。我们的工作表明，解剖神经发育疾病的途径需要纵向数据，包括多基因贡献、早期神经认知功能和临床表型变异。
Identifying developmental endophenotypes on the pathway between genetics and behavior is critical to uncovering the mechanisms underlying neurodevelopmental conditions. In this proof-of-principle study, we explored whether early disruptions in visual attention are a unique or shared candidate endophenotype of autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). We calculated the duration of the longest look (i.e., peak look) to faces in an array-based eye-tracking task for 335 14-month-old infants with and without first-degree relatives with ASD and/or ADHD. We leveraged parent-report and genotype data available for a proportion of these infants to evaluate the relation of looking behavior to familial (n = 285) and genetic liability (using polygenic scores, n = 185) as well as ASD and ADHD-relevant temperament traits at 2 years of age (shyness and inhibitory control, respectively, n = 272) and ASD and ADHD clinical traits at 6 years of age (n = 94).Results showed that longer peak looks at the face were associated with elevated polygenic scores for ADHD (beta = 0.078, p = .023), but not ASD (beta = 0.002, p = .944), and with elevated ADHD traits in mid-childhood (F(1,88) = 6.401, p = .013, eta(2)(p)=0.068; ASD: F (1,88) = 3.218, p = .076), but not in toddlerhood (ps > 0.2). This pattern of results did not emerge when considering mean peak look duration across face and nonface stimuli. Thus, alterations in attention to faces during spontaneous visual exploration may be more consistent with a developmental endophenotype of ADHD than ASD. Our work shows that dissecting paths to neurodevelopmental conditions requires longitudinal data incorporating polygenic contribution, early neurocognitive function, and clinical phenotypic variation.