Uppsala Child & Babylab, Department of Psychology, Uppsala University, SE-75142, Uppsala, Sweden.
Centre for Brain and Cognitive Development, Birkbeck, University of London, London, WC1E 7HX, UK.
Nat Commun. 2018 May 7;9(1):1678. doi: 10.1038/s41467-018-03985-4.
Autism spectrum disorder (ASD) is a neurodevelopmental condition affecting around 1% of the population. We previously discovered that infant siblings of children with ASD had stronger pupillary light reflexes compared to low-risk infants, a result which contrasts sharply with the weak pupillary light reflex typically seen in both children and adults with ASD. Here, we show that on average the relative constriction of the pupillary light reflex is larger in 9-10-month-old high risk infant siblings who receive an ASD diagnosis at 36 months, compared both to those who do not and to low-risk controls. We also found that the magnitude of the pupillary light reflex in infancy is associated with symptom severity at follow-up. This study indicates an important role of sensory atypicalities in the etiology of ASD, and suggests that pupillometry, if further developed and refined, could facilitate risk assessment in infants.
自闭症谱系障碍（ASD）是一种影响大约 1%人口的神经发育疾病。我们之前发现，自闭症儿童的婴儿兄弟姐妹的瞳孔光反射比低风险婴儿更强，这一结果与自闭症儿童和成人通常所见的弱瞳孔光反射形成鲜明对比。在这里，我们表明，在平均水平上，在 9-10 个月大的高风险婴儿兄弟姐妹中，瞳孔光反射的相对收缩幅度更大，这些婴儿在 36 个月时被诊断出患有 ASD，与那些没有被诊断出患有 ASD 的婴儿和低风险对照组相比。我们还发现，婴儿期瞳孔光反射的幅度与随访时的症状严重程度有关。这项研究表明感觉异常在 ASD 的发病机制中起着重要作用，并表明如果进一步开发和完善瞳孔测量法，它可以帮助婴儿进行风险评估。
