Cortical surface architecture endophenotype and correlates of clinical diagnosis of autism spectrum disorder
Cortical surface architecture endophenotype and correlates of clinical diagnosis of autism spectrum disorder
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DOI：
10.1111/pcn.12854
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发表时间：
2019-03
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通讯作者：
B. Yamagata;T. Itahashi;J. Fujino;H. Ohta;O. Takashio;Motoaki Nakamura;N. Kato;M. Mimura;R. Hashimoto;Y. Aoki
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作者：
B. Yamagata;T. Itahashi;J. Fujino;H. Ohta;O. Takashio;Motoaki Nakamura;N. Kato;M. Mimura;R. Hashimoto;Y. Aoki
目的研究自闭症谱系障碍（ASD）患者的脑灰质结构特征。然而，他们没有阐明灰质的哪个方面呈现内表型。此外，由于他们没有招募TD人的兄弟姐妹，他们低估了ASD患者与未受影响的兄弟姐妹之间的差异。本研究旨在解决这些问题。方法我们招募了30对成年男性同胞（其中15对有ASD内表型，其他15对没有），并专注于四个灰质参数：皮质体积和三个基于表面的参数（皮质厚度，分形维数和脑沟深度[SD]）。首先，我们试图通过比较四个参数来确定ASD内在表型的模式。然后，我们比较了个体与ASD和他们的未受影响的兄弟姐妹的皮质参数，以确定神经相关的临床诊断占TD兄弟姐妹之间的差异。结果稀疏Logistic回归分析和留一配对交叉验证显示，与其他三个参数相比，SD对ASD内表型识别的准确率最高（73.3%）。解释TD兄弟姐妹之间SD差异的自举分析显示，ASD个体与其未受影响的兄弟姐妹之间在68个感兴趣区域中的6个中存在显著差异，用于多重比较。结论这项概念验证研究表明，ASD内表型出现在SD和神经相关的临床诊断可以从内表型分离时，我们占TD同胞之间的差异。(248/250字）
Aim Prior structural MRI studies demonstrated atypical gray matter characteristics in siblings of individuals with autism spectrum disorder (ASD). However, they did not clarify which aspect of gray matter presents the endophenotype. Further, because they did not enroll siblings of TD people, they underestimated the difference between individuals with ASD and their unaffected siblings. The current study aimed to solve these questions. Methods We recruited 30 pairs of adult male siblings (15 of them have an ASD endophenotype, other 15 pairs not) and focused on four gray matter parameters: cortical volume and three surface-based parameters (cortical thickness, fractal dimension, and sulcal depth [SD]). First, we sought to identify a pattern of an ASD endophenotype, comparing the four parameters. Then, we compared individuals with ASD and their unaffected siblings in the cortical parameters to identify neural correlates for the clinical diagnosis accounting for the difference between TD siblings. Results A sparse logistic regression with a leave-one-pair-out cross-validation showed the highest accuracy for the identification of an ASD endophenotype (73.3%) with the SD compared with the other three parameters. A bootstrapping analysis accounting for the difference in the SD between TD siblings showed a significantly large difference between individuals with ASD and their unaffected siblings in six out of 68 regions-of-interest accounting for multiple comparisons. Conclusions This proof-of-concept study suggests that an ASD endophenotype emerges in SD and that neural correlates for the clinical diagnosis can be dissociated from the endophenotype when we accounted for the difference between TD siblings. (248/250 words)