Dravet Syndrome Foundation Spain, Member of the EpiCARE ePAG Group, Madrid, Spain.
APHP. Service de Neurologie Pédiatrique, Hôpital Robert Debré, Paris, France.
Epilepsia Open. 2022 Mar;7(1):11-26. doi: 10.1002/epi4.12569. Epub 2021 Dec 19.
Dravet syndrome (DS) is a severe, rare, and complex developmental and epileptic encephalopathy affecting 1 in 16 000 live births and characterized by a drug-resistant epilepsy, cognitive, psychomotor, and language impairment, and behavioral disorders. Evidence suggests that optimal treatment of seizures in DS may improve outcomes, even though neurodevelopmental impairments are the likely result of both the underlying genetic variant and the epilepsy. We present an updated guideline for DS diagnosis and treatment, taking into consideration care of the adult patient and nonpharmaceutical therapeutic options for this disease. This up-to-date guideline, which is based on an extensive review of the literature and culminates with a new treatment algorithm for DS, is a European consensus developed through a survey involving 29 European clinical experts in DS. This guideline will serve professionals in their clinical practice and, as a consequence, will benefit DS patients and their families.
德拉维雷综合征（Dravet syndrome，DS）是一种严重、罕见且复杂的发育性和癫痫性脑病，发病率为活产婴儿的 1/16000，其特征为耐药性癫痫、认知、运动和语言障碍以及行为障碍。有证据表明，DS 患者癫痫发作的最佳治疗可能改善结局，尽管神经发育障碍可能是潜在基因突变和癫痫共同作用的结果。我们提出了 DS 诊断和治疗的更新指南，考虑到了成人患者的护理和该疾病的非药物治疗选择。该最新指南基于对文献的广泛回顾，并最终制定了 DS 的新治疗算法，这是通过涉及 29 名 DS 欧洲临床专家的调查得出的欧洲共识。该指南将为专业人员的临床实践提供参考，并最终使 DS 患者及其家属受益。
