Center of Neurodevelopmental Disorders (KIND), Centre for Psychiatry Research; Department of Women's and Children's Health & Stockholm Health Care Services, Karolinska Institutet & Region Stockholm, Stockholm, Sweden.
Department for Psychiatry and Psychotherapy, Section for Experimental Neuropsychiatry, Medical Center University of Freiburg, Freiburg, Germany.
Sci Rep. 2023 Aug 12;13(1):13124. doi: 10.1038/s41598-023-39876-y.
Previous studies on brain connectivity correlates of autism have often focused on selective connections and yielded inconsistent results. By applying global fiber tracking and utilizing a within-twin pair design, we aimed to contribute to a more unbiased picture of white matter connectivity in association with clinical autism and autistic traits. Eighty-seven twin pairs (n = 174; 55% monozygotic; 24 with clinical autism) underwent diffusion tensor imaging. Linear regressions assessed within-twin pair associations between structural brain connectivity of anatomically defined brain regions and both clinical autism and autistic traits. These were explicitly adjusted for IQ, other neurodevelopmental/psychiatric conditions and multiple testing, and implicitly for biological sex, age, and all genetic and environmental factors shared by twins. Both clinical autism and autistic traits were associated with reductions in structural connectivity. Twins fulfilling diagnostic criteria for clinical autism had decreased brainstem-cuneus connectivity compared to their co-twins without clinical autism. Further, twins with higher autistic traits had decreased connectivity of the left hippocampus with the left fusiform and parahippocampal areas. These associations were also significant in dizygotic twins alone. Reduced brainstem-cuneus connectivity might point towards alterations in low-level visual processing in clinical autism while higher autistic traits seemed to be more associated with reduced connectivity in networks involving the hippocampus and the fusiform gyrus, crucial especially for processing of faces and other (higher order) visual processing. The observed associations were likely influenced by both genes and environment.
先前关于自闭症的脑连接相关性的研究通常集中在选择性连接上，得出的结果不一致。通过应用全局纤维追踪并利用双胞胎内设计，我们旨在更全面地了解与临床自闭症和自闭症特征相关的白质连接。87 对双胞胎（n=174；55%为同卵双胞胎；24 对双胞胎患有临床自闭症）接受了弥散张量成像。线性回归评估了结构连接体素定义的脑区的结构脑连接与临床自闭症和自闭症特征之间的双胞胎内关联。这些关联经过 IQ、其他神经发育/精神疾病以及多重检验的明确调整，以及生物学性别、年龄和双胞胎共同的所有遗传和环境因素的隐性调整。临床自闭症和自闭症特征都与结构连接减少有关。与没有临床自闭症的同卵双胞胎相比，符合临床自闭症诊断标准的双胞胎脑干-楔前叶的连接减少。此外，自闭症特征较高的双胞胎左海马体与左梭状回和海马旁回的连接减少。这些关联在双卵双胞胎中也是显著的。脑干-楔前叶连接减少可能表明临床自闭症中存在低级视觉处理的改变，而自闭症特征较高似乎与涉及海马体和梭状回的网络连接减少有关，这些区域对处理面部和其他（高级）视觉处理至关重要。观察到的关联可能受到基因和环境的共同影响。
