The severe epilepsy syndromes of infancy: A population-based study
The severe epilepsy syndromes of infancy: A population-based study
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DOI：
10.1111/epi.16810
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发表时间：
2021-01-21
期刊：
影响因子：
5.6
通讯作者：
Harvey, A. Simon
中科院分区：
文献类型：
--
作者：
Howell, Katherine B.;Freeman, Jeremy L.;Harvey, A. Simon
目的了解婴幼儿重症癫痫综合征的发病情况、病因和转归。方法对澳大利亚维多利亚州18个月前发病的重症癫痫患儿进行人群队列研究。两位癫痫专家回顾了临床特征、癫痫视频和脑电图，以诊断国际抗癫痫联盟癫痫综合征。结果在114例患儿中，73例(%)符合癫痫综合征的诊断标准，16例(14%)癫痫综合征“变异体”缺失一个特征或不同特征，或尚未出现所有经典特征。West综合征(WS)和“WS样”癫痫(无低律或改良性低律的婴儿痉挛)是最常见的综合征，合并发病率为32.7/10万活产/年。婴幼儿癫痫伴迁移性局灶性发作(EIMFS)的发病率为4.5/10万，早期婴幼儿癫痫脑病(EIEE)的发病率为3.6/10万。结构病因在“WS样”癫痫(100%)、单灶性癫痫(83%)和WS(39%)中很常见，而单基因疾病在EIMFS、EIEE和Drave综合征中占主导地位。18名婴儿(16%)在2岁前死亡。在96名幸存者中，85名(89%)发育延迟或边缘，40名(42%)严重-严重。所有患有EIEE或EIMFS的婴儿都有严重-深度延迟或死亡，但在WS、“WS样”或“单灶性癫痫”婴儿中，只有19例(30%)有严重-深度延迟，只有2例(3%)死亡。在这个基因组测试和先进的脑成像时代，癫痫综合征的临床诊断仍然有助于指导病因学研究、初步治疗和预后。
Objective To study the epilepsy syndromes among the severe epilepsies of infancy and assess their incidence, etiologies, and outcomes.Methods A population-based cohort study was undertaken of severe epilepsies with onset before age 18 months in Victoria, Australia. Two epileptologists reviewed clinical features, seizure videos, and electroencephalograms to diagnose International League Against Epilepsy epilepsy syndromes. Incidence, etiologies, and outcomes at age 2 years were determined.Results Seventy-three of 114 (64%) infants fulfilled diagnostic criteria for epilepsy syndromes at presentation, and 16 (14%) had "variants" of epilepsy syndromes in which there was one missing or different feature, or where all classical features had not yet emerged. West syndrome (WS) and "WS-like" epilepsy (infantile spasms without hypsarrhythmia or modified hypsarrhythmia) were the most common syndromes, with a combined incidence of 32.7/100 000 live births/year. The incidence of epilepsy of infancy with migrating focal seizures (EIMFS) was 4.5/100 000 and of early infantile epileptic encephalopathy (EIEE) was 3.6/100 000. Structural etiologies were common in "WS-like" epilepsy (100%), unifocal epilepsy (83%), and WS (39%), whereas single gene disorders predominated in EIMFS, EIEE, and Dravet syndrome. Eighteen (16%) infants died before age 2 years. Development was delayed or borderline in 85 of 96 (89%) survivors, being severe-profound in 40 of 96 (42%). All infants with EIEE or EIMFS had severe-profound delay or were deceased, but only 19 of 64 (30%) infants with WS, "WS-like," or "unifocal epilepsy" had severe-profound delay, and only two of 64 (3%) were deceased.Significance Three quarters of severe epilepsies of infancy could be assigned an epilepsy syndrome or "variant syndrome" at presentation. In this era of genomic testing and advanced brain imaging, diagnosing epilepsy syndromes at presentation remains clinically useful for guiding etiologic investigation, initial treatment, and prognostication.