当患有癫痫持续状态的儿童可能患有 Dravet 综合征时，应该如何处理？

When is a child with status epilepticus likely to have Dravet syndrome?

机构信息

Psychiatric Genetic Unit, Genetic Medicine Service, University Hospitals, Geneva, Switzerland; Molecular Diagnostic Laboratory, Genetic Medicine Service, University Hospitals, Geneva, Switzerland.

Pediatric Neurology, CHUV, Lausanne, Switzerland.

出版信息

Epilepsy Res. 2014 May;108(4):740-7. doi: 10.1016/j.eplepsyres.2014.02.019. Epub 2014 Mar 12.

DOI:10.1016/j.eplepsyres.2014.02.019

PMID:24679980

Abstract

PURPOSE

To identify clinical risk factors for Dravet syndrome (DS) in a population of children with status epilepticus (SE).

MATERIAL AND METHODS

Children aged between 1 month and 16 years with at least one episode of SE were referred from 6 pediatric neurology centers in Switzerland. SE was defined as a clinical seizure lasting for more than 30min without recovery of normal consciousness. The diagnosis of DS was considered likely in previously healthy patients with seizures of multiple types starting before 1 year and developmental delay on follow-up. The presence of a SCN1A mutation was considered confirmatory for the diagnosis. Data such as gender, age at SE, SE clinical presentation and recurrence, additional seizure types and epilepsy diagnosis were collected. SCN1A analyses were performed in all patients, initially with High Resolution Melting Curve Analysis (HRMCA) and then by direct sequencing on selected samples with an abnormal HRMCA. Clinical and genetic findings were compared between children with DS and those with another diagnosis, and statistical methods were applied for significance analysis.

RESULTS

71 children with SE were included. Ten children had DS, and 61 had another diagnosis. SCN1A mutations were found in 12 of the 71 patients (16.9%; ten with DS, and two with seizures in a Generalized Epilepsy with Febrile Seizures+(GEFS+) context). The median age at first SE was 8 months in patients with DS, and 41 months in those with another epilepsy syndrome (p<0.001). Nine of the 10 DS patients had their initial SE before 18 months. Among the 26 patients aged 18 months or less at initial SE, the risk of DS was significantly increased for patients with two or more episodes (56.3%), as compared with those who had only one episode (0.0%) (p=0.005).

CONCLUSION

In a population of children with SE, patients most likely to have DS are those who present their initial SE episode before 18 months, and who present with recurrent SE episodes.

摘要

目的

在癫痫持续状态（SE）患儿人群中确定德雷夫特综合征（DS）的临床危险因素。

材料和方法

来自瑞士 6 个儿科神经病学中心的 1 个月至 16 岁之间至少有一次 SE 发作的患儿被纳入研究。SE 定义为持续 30 分钟以上的临床癫痫发作，且无正常意识恢复。先前健康的患儿在 1 岁之前出现多种类型的癫痫发作，随访时出现发育迟缓，被认为 DS 的诊断可能性较大。SCN1A 突变的存在被认为是该诊断的确认依据。收集了性别、SE 发病年龄、SE 临床表现和复发、附加癫痫发作类型和癫痫诊断等数据。对所有患者进行 SCN1A 分析，最初采用高分辨率熔解曲线分析（HRMCA），然后对 HRMCA 异常的选定样本进行直接测序。比较了 DS 患儿和其他诊断患儿的临床和遗传发现，并应用统计学方法进行了显著性分析。

结果

共纳入 71 例 SE 患儿。10 例患儿为 DS，61 例患儿为其他诊断。在 71 例患者中发现 SCN1A 突变 12 例（16.9%；10 例 DS，2 例为热性惊厥附加全面性癫痫（GEFS+）背景下的癫痫发作）。DS 患儿首次 SE 的中位年龄为 8 个月，其他癫痫综合征患儿为 41 个月（p<0.001）。10 例 DS 患儿中有 9 例在 18 个月之前出现首次 SE。在首次 SE 年龄为 18 个月或以下的 26 例患者中，与仅发生 1 次 SE 发作的患者相比，发生 2 次或更多次 SE 发作的 DS 风险显著增加（56.3%）（p=0.005）。