Institute of Medical Science, Faculty of Medicine, University of Toronto, Toronto, Canada; Adult Epilepsy Genetics Program, Division of Neurology, Krembil Research Institute, Toronto Western Hospital, Toronto, Canada.
Adult Epilepsy Genetics Program, Division of Neurology, Krembil Research Institute, Toronto Western Hospital, Toronto, Canada.
Seizure. 2021 Apr;87:39-45. doi: 10.1016/j.seizure.2021.02.025. Epub 2021 Feb 22.
Dravet Syndrome (DS) is a rare and severe infantile-onset epileptic encephalopathy. DS research focuses mainly on children. We did a systematic review, completed on January 18, 2021, examining the number of clinical DS studies. We show that there are 208 studies on children exclusively, 28 studies on adults exclusively, and 116 studies involving adults and children combined. This 7:1 ratio of children to adult studies exclusively shows the dearth of research that addresses long-term natural history of DS into adulthood. Through this systematic review, we examine the most up-to-date information in DS adults as it pertains to seizures, electroencephalogram, imaging, treatment, motor abnormalities, cognitive and social behavior outcomes, cardiac abnormalities, sleep disturbances, diagnosis in adults, and mortality. Overall, the frequency of seizures increases in the first decade of life and then myoclonic, atypical absences and focal seizures with impaired awareness tend to decrease in frequency or even disappear in adulthood. Adults tend to have a notable reduction in status epilepticus, especially after 30 years of age. Parkinsonian features were seen in patients as young as 19 years old and are more severe in older patients, suggesting a progression of the parkinsonian symptoms. In adulthood, patients continue to present with behavior problems, associated with a lower health-related quality of life. The leading reported cause of death in DS adults is Sudden Unexpected Death in Epilepsy (SUDEP). Further studies in older adults are needed to understand the long-term outcomes of patients with DS.
德拉维雷综合征（Dravet Syndrome，DS）是一种罕见的严重婴儿起病的癫痫性脑病。DS 的研究主要集中在儿童身上。我们进行了一项系统评价，于 2021 年 1 月 18 日完成，旨在检查专门针对 DS 的临床研究数量。我们发现，仅针对儿童的研究有 208 项，仅针对成人的研究有 28 项，涉及成人和儿童的联合研究有 116 项。专门针对儿童和成人的研究比例为 7:1，这表明缺乏针对 DS 成人长期自然病史的研究。通过这项系统评价，我们检查了 DS 成人中与癫痫发作、脑电图、影像学、治疗、运动异常、认知和社会行为结局、心脏异常、睡眠障碍、成人诊断和死亡率相关的最新信息。总的来说，癫痫发作的频率在生命的第一个十年增加，然后肌阵挛、非典型失神发作和伴有意识障碍的局灶性发作的频率趋于降低，甚至在成年后消失。成人的癫痫持续状态明显减少，尤其是 30 岁以后。帕金森病特征在 19 岁的年轻患者中就已经出现，并且在老年患者中更为严重，表明帕金森病症状的进展。在成年期，患者继续出现行为问题，与较低的健康相关生活质量相关。DS 成人报告的主要死亡原因是癫痫猝死（Sudden Unexpected Death in Epilepsy，SUDEP）。需要对老年患者进行进一步研究，以了解 DS 患者的长期结局。
