Moseley R L, Ypma R J F, Holt R J, Floris D, Chura L R, Spencer M D, Baron-Cohen S, Suckling J, Bullmore E, Rubinov M
Department of Psychiatry, Brain Mapping Unit, University of Cambridge, Cambridge, UK.
Department of Psychiatry, Brain Mapping Unit, University of Cambridge, Cambridge, UK ; University of Cambridge, Hughes Hall, Cambridge, UK.
Neuroimage Clin. 2015 Aug 7;9:140-52. doi: 10.1016/j.nicl.2015.07.015. eCollection 2015.
Endophenotypes are heritable and quantifiable markers that may assist in the identification of the complex genetic underpinnings of psychiatric conditions. Here we examined global hypoconnectivity as an endophenotype of autism spectrum conditions (ASCs). We studied well-matched groups of adolescent males with autism, genetically-related siblings of individuals with autism, and typically-developing control participants. We parcellated the brain into 258 regions and used complex-network analysis to detect a robust hypoconnectivity endophenotype in our participant group. We observed that whole-brain functional connectivity was highest in controls, intermediate in siblings, and lowest in ASC, in task and rest conditions. We identified additional, local endophenotype effects in specific networks including the visual processing and default mode networks. Our analyses are the first to show that whole-brain functional hypoconnectivity is an endophenotype of autism in adolescence, and may thus underlie the heritable similarities seen in adolescents with ASC and their relatives.
内表型是可遗传且可量化的标志物，有助于识别精神疾病复杂的遗传基础。在此，我们将全脑低连接性作为自闭症谱系障碍（ASCs）的一种内表型进行研究。我们对患有自闭症的青少年男性、自闭症患者的基因相关亲属以及发育正常的对照参与者进行了匹配良好的分组研究。我们将大脑划分为258个区域，并使用复杂网络分析在我们的参与者群体中检测到一种强大的低连接性内表型。我们观察到，在任务和静息状态下，全脑功能连接性在对照组中最高，在亲属组中处于中间水平，在自闭症谱系障碍组中最低。我们在包括视觉处理和默认模式网络在内的特定网络中发现了额外的局部内表型效应。我们的分析首次表明，全脑功能低连接性是青少年自闭症的一种内表型，因此可能是自闭症谱系障碍青少年及其亲属中可见的遗传相似性的基础。
