MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London, De Crespigny Park Road, Denmark Hill, London SE5 8AF, UK.
BMC Med. 2013 Feb 27;11:55. doi: 10.1186/1741-7015-11-55.
Autism Spectrum Disorder (ASD) is a behavioral syndrome caused by complex genetic and non-genetic risk factors. It has been proposed that these risk factors lead to alterations in the development and 'wiring' of brain circuits and hence, the emergence of ASD. Although several lines of research lend support to this theory, etiological and clinical heterogeneity, methodological issues and inconsistent findings have led to significant doubts. One of the best established, albeit rare, causes of ASD is the genetic condition Tuberous Sclerosis Complex (TSC), where 40% of individuals develop ASD. A recent study by Peters and Taquet et al. analyzed electroencephalography (EEG) data using graph theory to model neural 'connectivity' in individuals with TSC with and without ASD and cases with 'idiopathic' ASD. TSC cases exhibited global under-connectivity and abnormal network topology, whereas individuals with TSC + ASD demonstrated similar connectivity patterns to those seen in individuals with idiopathic ASD: decreased long- over short-range connectivity. The similarity in connectivity abnormalities in TSC + ASD and ASD suggest a common final pathway and provide further support for 'mis-wired' neural circuitry in ASD. The origins of the connectivity changes, and their role in mediating between the neural and the cognitive/behavioral manifestations, will require further study.Please see related research article here http://www.biomedcentral.com/1741-7015/11/54.
自闭症谱系障碍（ASD）是一种由复杂的遗传和非遗传风险因素引起的行为综合征。有人提出，这些风险因素导致大脑回路的发育和“连接”发生改变，从而出现 ASD。尽管有几条研究线索支持这一理论，但病因学和临床异质性、方法学问题和不一致的发现导致了人们的严重怀疑。自闭症的一个最好的、尽管罕见的、已确定的原因是结节性硬化症（TSC），其中 40%的人患有 ASD。Peters 和 Taquet 等人最近的一项研究使用图论分析了脑电图（EEG）数据，以对有和没有 ASD 的 TSC 个体以及患有“特发性”ASD 的病例进行神经“连接”建模。TSC 病例表现出全局连接不足和异常网络拓扑结构，而 TSC + ASD 个体则表现出与特发性 ASD 个体相似的连接模式：长程连接减少，短程连接增加。TSC + ASD 和 ASD 中连接异常的相似性表明存在共同的最终途径，并为 ASD 中“连接错误”的神经回路提供了进一步的支持。连接变化的起源及其在神经和认知/行为表现之间的中介作用将需要进一步研究。请在此处查看相关研究文章：http://www.biomedcentral.com/1741-7015/11/54.
