Autism Spectrum Disorder and Epilepsy: Two Sides of the Same Coin?
Autism Spectrum Disorder and Epilepsy: Two Sides of the Same Coin?
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DOI：
10.1177/0883073815601501
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发表时间：
2015-12
影响因子：
1.9
通讯作者：
Tuchman R
中科院分区：
文献类型：
--
作者：
Jeste SS;Tuchman R
自闭症谱系障碍（ASD）和癫痫通常同时发生。在这篇综述中，我们考虑了一些尚未解决的问题，如时间关系、因果机制和这种合并症的临床分层，强调了ASD、癫痫和智力残疾之间的相互作用。我们提出了儿童自闭症和癫痫的临床特征的数据，讨论了这种合并症的儿童的独特表型。虽然出现了一些独特的临床特征，但这种共病也通知了导致突触功能障碍的遗传变异的趋同途径。然后，我们超越诊断分类，并考虑电生理学作为定量生物标志物可能有助于指导临床分层和结果预测的程度。自闭症谱系障碍中的癫痫和非典型电生理模式可以为谱系中有生物学意义的亚群的定义提供信息，进而可以阐明潜在的干预目标。
Autism spectrum disorders (ASD) and epilepsy commonly co-occur. In this review, we consider some unresolved questions regarding the temporal relationship, causal mechanisms, and clinical stratification of this comorbidity, highlighting throughout the interplay between ASD, epilepsy and intellectual disability. We present data on the clinical characterization of children with ASD and epilepsy, discussing distinctive phenotypes in children with this comorbidity. While some distinctive clinical features emerge, this comorbidity also informs convergent pathways in genetic variants that cause synaptic dysfunction. We then move beyond diagnostic categorization and consider the extent to which electrophysiology as a quantitative biomarker may help guide efforts in clinical stratification and outcome prediction. Epilepsy, and atypical electrophysiological patterns, in ASD may inform the definition of biologically meaningful subgroups within the spectrum that, in turn, can shed light on potential targets for intervention.