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Temporal lobe connects regression and macrocephaly to autism spectrum disorders

机译:颞叶将消退和大头畸形与自闭症谱系障碍联系起来

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摘要

Interictal electroencephalogram (EEG) abnormalities are frequently associated with autism spectrum disorders (ASD), although their relationship with the clinical features of ASD, particularly the regressive onset, remains controversial. The aim of this study was to investigate whether the characteristics of interictal EEG abnormalities might help to distinguish and predict definite phenotypes within the heterogeneity of ASD. We reviewed the awake and sleep interictal EEGs of 220 individuals with idiopathic ASD, either with or without a history of seizures. EEG findings were analyzed with respect to a set of clinical variables to explore significant associations. A brain morphometry study was also carried out on a subgroup of patients. EEG abnormalities were seen in 154/220 individuals (70 %) and were mostly focal (p < 0.01) with an anterior localization (p < 0.001). They were detected more frequently during sleep (p < 0.01), and were associated with a regressive onset of ASD (p < 0.05), particularly in individuals with focal temporal localization (p < 0.05). This association was also stronger in regressive patients with concurrent macrocephaly, together with a relative volumetric reduction of the right temporal cortex (p < 0.05). Indeed, concurrence of temporal EEG abnormalities, regression and macrocephaly might possibly define a distinct endophenotype of ASD. EEG-based endophenotypes could be useful to untangle the complexity of ASD, helping to establish anatomic or pathophysiologic subtypes of the disorder.Electronic supplementary materialThe online version of this article (doi:10.1007/s00787-015-0746-9) contains supplementary material, which is available to authorized users.
机译:发作性脑电图(EEG)异常通常与自闭症谱系障碍(ASD)相关,尽管它们与ASD的临床特征(尤其是回归发作)之间的关系仍然存在争议。这项研究的目的是调查间质性脑电图异常的特征是否可能有助于区分和预测ASD异质性内的明确表型。我们回顾了220例具有或没有癫痫病史的特发性ASD的清醒和睡眠间质性脑电图。针对一组临床变量分析了脑电图结果,以探索重要的关联。还对一部分患者进行了脑形态计量学研究。脑电图异常见于154/220个人中(70%),主要是局灶性(p <0.01)且局限在前部(p <0.001)。他们在睡眠中被更频繁地检测到(p <0.01),并且与ASD的发作相关(p <0.05),尤其是在局灶性颞叶局限性个体中(p <0.05)。在并发大头畸形的退行性患者中,这种关联性也更强,同时右颞皮质的相对体积减少(p <0.05)。确实,暂时性脑电图异常,消退和大头畸形的并发可能定义了ASD的独特内表型。基于EEG的内表型可能有助于弄清ASD的复杂性,有助于建立该疾病的解剖或病理生理亚型。电子补充材料本文的在线版本(doi:10.1007 / s00787-015-0746-9)包含补充材料,可供授权用户使用。

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