Research Center for Child Mental Development, Kanazawa University, 13-1 Takara-machi, Kanazawa, 920-8640, Japan.
Division of Socio-Cognitive-Neuroscience, Department of Child Development, United Graduate School of Child Development, Osaka University, Kanazawa University, Hamamatsu University School of Medicine, Chiba University, and University of Fukui, Kanazawa, Japan.
Sci Rep. 2021 May 11;11(1):10001. doi: 10.1038/s41598-021-89393-z.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with an early onset and a strong genetic origin. Unaffected relatives may present similar but subthreshold characteristics of ASD. This broader autism phenotype is especially prevalent in the parents of individuals with ASD, suggesting that it has heritable factors. Although previous studies have demonstrated brain morphometry differences in ASD, they are poorly understood in parents of individuals with ASD. Here, we estimated grey matter volume in 45 mothers of children with ASD (mASD) and 46 age-, sex-, and handedness-matched controls using whole-brain voxel-based morphometry analysis. The mASD group had smaller grey matter volume in the right middle temporal gyrus, temporoparietal junction, cerebellum, and parahippocampal gyrus compared with the control group. Furthermore, we analysed the correlations of these brain volumes with ASD behavioural characteristics using autism spectrum quotient (AQ) and systemizing quotient (SQ) scores, which measure general autistic traits and the drive to systemize. Smaller volumes in the middle temporal gyrus and temporoparietal junction correlated with higher SQ scores, and smaller volumes in the cerebellum and parahippocampal gyrus correlated with higher AQ scores. Our findings suggest that atypical grey matter volumes in mASD may represent one of the neurostructural endophenotypes of ASD.
自闭症谱系障碍（ASD）是一种神经发育障碍，具有早期发病和强烈的遗传起源。未受影响的亲属可能表现出类似但处于亚阈值特征的 ASD。这种更广泛的自闭症表型在 ASD 患者的父母中尤为普遍，表明它具有遗传因素。尽管先前的研究已经证明了 ASD 患者大脑形态学的差异，但在 ASD 患者的父母中，这些差异仍知之甚少。在这里，我们使用全脑体素形态学分析，估计了 45 名 ASD 儿童的母亲（mASD）和 46 名年龄、性别和惯用手匹配的对照组的灰质体积。与对照组相比，mASD 组右侧颞中回、颞顶联合区、小脑和海马旁回的灰质体积较小。此外，我们使用自闭症谱系商数（AQ）和系统化商数（SQ）评分分析了这些脑体积与 ASD 行为特征的相关性，这些评分衡量一般自闭症特征和系统化倾向。颞中回和颞顶联合区的体积越小，SQ 评分越高，小脑和海马旁回的体积越小，AQ 评分越高。我们的研究结果表明，mASD 中异常的灰质体积可能代表 ASD 的神经结构内表型之一。
