School of Psychological Science, University of Western Australia, Perth, Australia.
Telethon Kids Institute, University of Western Australia, Perth, Australia.
Transl Psychiatry. 2020 Jan 16;10(1):7. doi: 10.1038/s41398-020-0695-z.
Autism spectrum disorder is a heritable neurodevelopmental condition diagnosed based on social and communication differences. There is strong evidence that cognitive and behavioural changes associated with clinical autism aggregate with biological relatives but in milder form, commonly referred to as the 'broad autism phenotype'. The present study builds on our previous findings of increased facial masculinity in autistic children (Sci. Rep., 7:9348, 2017) by examining whether facial masculinity represents as a broad autism phenotype in 55 non-autistic siblings (25 girls) of autistic children. Using 3D facial photogrammetry and age-matched control groups of children without a family history of ASD, we found that facial features of male siblings were more masculine than those of male controls (n = 69; p < 0.001, d = 0.81 [0.36, 1.26]). Facial features of female siblings were also more masculine than the features of female controls (n = 60; p = 0.005, d = 0.63 [0.16, 1.10]). Overall, we demonstrated for males and females that facial masculinity in non-autistic siblings is increased compared to same-sex comparison groups. These data provide the first evidence for a broad autism phenotype expressed in a physical characteristic, which has wider implications for our understanding of the interplay between physical and cognitive development in humans.
自闭症谱系障碍是一种遗传性神经发育障碍，根据社交和沟通差异进行诊断。有强有力的证据表明，与临床自闭症相关的认知和行为变化与生物亲属聚集在一起，但形式较轻，通常称为“广泛自闭症表型”。本研究基于我们之前发现的自闭症儿童面部男性化增加的发现（Sci. Rep.，7：9348，2017），通过检查面部男性化是否代表自闭症儿童的 55 名非自闭症兄弟姐妹（25 名女孩）的广泛自闭症表型。使用 3D 面部摄影测量法和年龄匹配的无 ASD 家族史的儿童对照组，我们发现自闭症男孩的面部特征比男性对照组更具男性化（n=69；p<0.001，d=0.81 [0.36, 1.26]）。自闭症男孩的面部特征也比女性对照组更具男性化（n=60；p=0.005，d=0.63 [0.16, 1.10]）。总体而言，我们证明了男性和女性的非自闭症兄弟姐妹的面部男性化程度高于同性别对照组。这些数据首次提供了广泛自闭症表型在身体特征上表达的证据，这对我们理解人类身体和认知发育之间的相互作用具有更广泛的意义。
