Neuroimaging studies show structural differences in both cortical and subcortical brain regions in children and adults with autism spectrum disorder (ASD) compared with healthy subjects. Findings are inconsistent, however, and it is unclear how differences develop across the lifespan. The authors investigated brain morphometry differences between individuals with ASD and healthy subjects, cross-sectionally across the lifespan, in a large multinational sample from the Enhancing Neuroimaging Genetics Through Meta-Analysis (ENIGMA) ASD working group.

The sample comprised 1,571 patients with ASD and 1,651 healthy control subjects (age range, 2–64 years) from 49 participating sites. MRI scans were preprocessed at individual sites with a harmonized protocol based on a validated automated-segmentation software program. Mega-analyses were used to test for case-control differences in subcortical volumes, cortical thickness, and surface area. Development of brain morphometry over the lifespan was modeled using a fractional polynomial approach.

The case-control mega-analysis demonstrated that ASD was associated with smaller subcortical volumes of the pallidum, putamen, amygdala, and nucleus accumbens (effect sizes [Cohen’s d], 0.13 to –0.13), as well as increased cortical thickness in the frontal cortex and decreased thickness in the temporal cortex (effect sizes, −0.21 to 0.20). Analyses of age effects indicate that the development of cortical thickness is altered in ASD, with the largest differences occurring around adolescence. No age-by-ASD interactions were observed in the subcortical partitions.

The ENIGMA ASD working group provides the largest study of brain morphometry differences in ASD to date, using a well-established, validated, publicly available analysis pipeline. ASD patients showed altered morphometry in the cognitive and affective parts of the striatum, frontal cortex, and temporal cortex. Complex developmental trajectories were observed for the different regions, with a developmental peak around adolescence. These findings suggest an interplay in the abnormal development of the striatal, frontal, and temporal regions in ASD across the lifespan.

神经影像学研究显示，与健康受试者相比，患有自闭症谱系障碍（ASD）的儿童和成人在皮质和皮质下大脑区域的结构差异。然而，发现并不一致，并且不清楚寿命中差异如何发展。作者通过“通过元分析来增强神经影像遗传学”（ENIGMA）ASD工作组的大型跨国样本，研究了ASD个体与健康受试者在整个生命周期内的大脑形态测量差异。

该样本包括49个参与地点的1,571例ASD患者和1,651例健康对照受试者（年龄范围2至64岁）。在经过验证的自动分段软件程序的基础上，使用统一的协议在各个位置对MRI扫描进行预处理。巨型分析用于测试皮下体积，皮层厚度和表面积在病例对照方面的差异。使用分数多项式方法对生命周期内大脑形态计量学的发展进行了建模。

病例对照的大规模分析表明，ASD与苍白球，壳核，杏仁核和伏隔核较小的皮层下体积有关（效应大小[Cohen d]，0.13至–0.13），以及额叶皮层厚度增加皮质和颞皮质的厚度减少（效果大小为-0.21至0.20）。年龄效应分析表明，ASD皮质厚度的变化有所改变，最大的差异发生在青春期。在皮层下分区中未观察到按年龄的ASD相互作用。

ENIGMA ASD工作组使用完善的，经过验证的，公开可用的分析渠道，提供了迄今为止最大的ASD脑形态测量差异研究。ASD患者的纹状体，额叶皮层和颞叶皮层的认知和情感部分的形态发生了改变。在不同地区观察到复杂的发展轨迹，在青春期附近出现了一个发展高峰。这些发现表明，在整个生命过程中，ASD的纹状体，额叶和颞叶区域的异常发育相互影响。