Sackler Institute for Translational Neurodevelopment, Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, King's College, PO50, De Crespigny Park, London SE5 8AF, UK.
Nat Rev Neurol. 2014 Feb;10(2):82-91. doi: 10.1038/nrneurol.2013.276. Epub 2014 Jan 14.
Over the past decade, human neuroimaging studies have provided invaluable insights into the neural substrates that underlie autism spectrum disorder (ASD). Although observations from multiple neuroimaging approaches converge in suggesting that changes in brain structure, functioning and connectivity are associated with ASD, the neurobiology of this disorder is complex, and considerable aetiological and phenotypic heterogeneity exists among individuals on the autism spectrum. Characterization of the neurobiological alterations that underlie ASD and development of novel pharmacotherapies for ASD, therefore, requires multidisciplinary collaboration. Consequently, pressure is growing to combine neuroimaging data with information provided by other disciplines to translate research findings into clinically useful biomarkers. So far, however, neuroimaging studies in patients with ASD have mainly been conducted in isolation, and the low specificity of neuroimaging measures has hindered the development of biomarkers that could aid clinical trials and/or facilitate patient identification. Novel approaches to acquiring and analysing data on brain characteristics are currently being developed to overcome these inherent limitations, and to integrate neuroimaging into translational research. Here, we discuss promising new studies of cortical pathology in patients with ASD, and outline how the novel insights thereby obtained could inform diagnosis and treatment of ASD in the future.
在过去的十年中，人类神经影像学研究为理解自闭症谱系障碍（ASD）的神经基础提供了宝贵的见解。尽管来自多种神经影像学方法的观察结果都表明，大脑结构、功能和连接的变化与 ASD 有关，但这种疾病的神经生物学非常复杂，自闭症谱系内个体的病因和表型存在很大的异质性。因此，需要多学科合作来描述 ASD 的神经生物学改变，并开发新的 ASD 药物治疗方法。因此，将神经影像学数据与其他学科提供的信息相结合，将研究结果转化为临床有用的生物标志物的压力越来越大。然而，迄今为止，ASD 患者的神经影像学研究主要是孤立进行的，神经影像学测量的特异性较低，这阻碍了有助于临床试验和/或有助于患者识别的生物标志物的发展。目前正在开发新的方法来获取和分析大脑特征数据，以克服这些固有限制，并将神经影像学纳入转化研究。在这里，我们讨论了 ASD 患者皮质病理学的一些有前景的新研究，并概述了由此获得的新见解如何为未来的 ASD 诊断和治疗提供信息。
