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A broad autism phenotype expressed in facial morphology.
Translational Psychiatry ( IF 5.8 ) Pub Date : 2020-01-16 , DOI: 10.1038/s41398-020-0695-z Diana Weiting Tan 1, 2 , Murray T Maybery 1 , Syed Zulqarnain Gilani 3, 4 , Gail A Alvares 2 , Ajmal Mian 3 , David Suter 4 , Andrew J O Whitehouse 2
Translational Psychiatry ( IF 5.8 ) Pub Date : 2020-01-16 , DOI: 10.1038/s41398-020-0695-z Diana Weiting Tan 1, 2 , Murray T Maybery 1 , Syed Zulqarnain Gilani 3, 4 , Gail A Alvares 2 , Ajmal Mian 3 , David Suter 4 , Andrew J O Whitehouse 2
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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.
中文翻译：
以面部形态表达的广泛的自闭症表型。
自闭症谱系障碍是根据社交和沟通差异诊断的遗传性神经发育状况。有充分的证据表明，与临床自闭症相关的认知和行为变化与生物学亲戚聚集在一起，但形式较为温和，通常被称为“广泛自闭症表型”。本研究通过检查55位非自闭症自闭症兄弟姐妹（25名女孩）中的面部阳刚度是否代表广泛的自闭症表型，建立在我们先前发现的自闭症儿童面部男性气概增加的发现的基础上（Sci。Rep。，7：9348，2017）孩子们。使用3D面部摄影测量法和没有ASD家族史的年龄匹配的对照组儿童，我们发现男性同胞的面部特征比男性对照更有阳刚感（n = 69; p <0.001，d = 0.81 [0.36， 1.26]）。女性同胞的面部特征也比女性对照的特征更男性化（n = 60； p = 0.005，d = 0.63 [0.16，1.10]）。总体而言，我们向男性和女性证明，与同性比较组相比，非自闭症同胞的面部男性气质有所增加。这些数据为以生理特征表达的广泛的自闭症表型提供了第一个证据，这对于我们对人类身体与认知发展之间相互作用的理解具有更广泛的意义。
更新日期：2020-01-16
中文翻译：
以面部形态表达的广泛的自闭症表型。
自闭症谱系障碍是根据社交和沟通差异诊断的遗传性神经发育状况。有充分的证据表明，与临床自闭症相关的认知和行为变化与生物学亲戚聚集在一起，但形式较为温和，通常被称为“广泛自闭症表型”。本研究通过检查55位非自闭症自闭症兄弟姐妹（25名女孩）中的面部阳刚度是否代表广泛的自闭症表型，建立在我们先前发现的自闭症儿童面部男性气概增加的发现的基础上（Sci。Rep。，7：9348，2017）孩子们。使用3D面部摄影测量法和没有ASD家族史的年龄匹配的对照组儿童，我们发现男性同胞的面部特征比男性对照更有阳刚感（n = 69; p <0.001，d = 0.81 [0.36， 1.26]）。女性同胞的面部特征也比女性对照的特征更男性化（n = 60； p = 0.005，d = 0.63 [0.16，1.10]）。总体而言，我们向男性和女性证明，与同性比较组相比，非自闭症同胞的面部男性气质有所增加。这些数据为以生理特征表达的广泛的自闭症表型提供了第一个证据，这对于我们对人类身体与认知发展之间相互作用的理解具有更广泛的意义。
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