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儿童癫痫综合征

Author
Angus Wilfong, MD
Section Editor
Douglas R Nordli, Jr, MD
Deputy Editor
April F Eichler, MD, MPH
Translators
何瑞娟, 主治医师

引言

大多数癫痫学家应用国际癫痫发作分类法进行癫痫发作分类[1]。 (参见“Seizures and epilepsy in children: Classification, etiology, and clinical features”)

然而，临床医生在治疗癫痫发作患者，尤其是慢性发作患者时，不再应该仅满足于“癫痫发作”或“癫痫大发作”的诊断，而应该尽力确定该儿童的临床表现是否符合某一种儿童癫痫综合征[2,3]。癫痫综合征的分类对于治疗、预后极具价值而且对于家族性癫痫提供遗传信息[4]。

现已证实，癫痫综合征分类方案在需要获得关于癫痫患者更详细信息的临床情况下非常有价值。对癫痫综合征的识别可以更易于确定其表型时，家族性遗传性癫痫的基因学研究就更容易。例如，与常染色体显性遗传有关的夜间额叶癫痫(autosomal dominant nocturnal frontal lobe epilepsy, ADNFLE)综合征，其受累染色体和基因产物的位置是在家族研究中被发现的，这些研究根据典型表型识别出了受累个体：通常类似于深眠状态(如夜惊)的复杂部分性发作、相对独有的夜间发作、特征性脑电图(electroencephalogram, EEG)发现、发育及神经系统检查结果正常[5]。

近几年来，关于新抗癫痫药物(antiepileptic drug, AED)的试验已经纳入了癫痫综合征患者而非仅仅根据癫痫发作类型所选的参与者。例如，一项关于托吡酯的研究采用了一个大型的Lennox-Gastaut综合征(Lennox-Gastaut syndrome, LGS)儿童队列，而关于拉莫三嗪的研究则在患有青少年肌阵挛性癫痫的儿童和青少年中进行[6,7]。因此这些人群更具有同质性，并且将来可以让临床医生根据最有可能对特定药物起反应癫痫发作类型的儿童群组调整AED。

癫痫综合征的分布

一项前瞻性研究纳入了182例具有2次或以上发作的儿童，这些儿童在几所大型大学附属市区医院之一就诊，对他们至少随访了2年(平均9年)，依据国际抗癫痫联盟(International League Against Epilepsy, ILAE)指南对其癫痫综合征进行了分类，并且报告了如下结果[8]：

               

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Literature review current through: 2017-07 . | This topic last updated: 2016-09-28.
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