Wirrell Elaine C
Department of Child and Adolescent Neurology,the Mayo Clinic,Rochester,Minnesota,USA.
Can J Neurol Sci. 2016 Jun;43 Suppl 3:S13-8. doi: 10.1017/cjn.2016.249.
Dravet syndrome is among the most challenging electroclinical syndromes. There is a high likelihood of recurrent status epilepticus; seizures are medically refractory; and patients have multiple co-morbidities, including intellectual disability, behaviour and sleep problems, and crouch gait. Additionally, they are at significant risk of sudden unexplained death. This review will focus predominantly on the prophylactic medical management of seizures, addressing both first-line therapies (valproate and clobazam) as well as second-line (stiripentol, topiramate, ketogenic diet) or later options (levetiracetam, bromides, vagus nerve stimulation). Sodium channel agents-including carbamazepine, oxcarbazepine, phenytoin and lamotrigine-should be avoided, as they typically exacerbate seizures. Several agents in development may show promise, specifically fenfluramine and cannabidiol, but they need further evaluation in randomized, controlled trials. In addition to prophylactic treatment, all patients need home-rescue medication and a status epilepticus protocol that can be carried out in their local hospital. Families must be counselled on non-pharmacologic strategies to reduce seizure risk, including avoidance of triggers that commonly induce seizures (including hyperthermia, flashing lights and patterns). In addition to addressing seizures, holistic care for a patient with Dravet syndrome must involve a multidisciplinary team that includes specialists in physical, occupational and speech therapy, neuropsychology, social work and physical medicine.
德雷维特综合征是最具挑战性的电临床综合征之一。癫痫持续状态复发的可能性很高;癫痫发作药物难治;患者有多种合并症,包括智力残疾、行为和睡眠问题以及蹲伏步态。此外,他们有不明原因猝死的重大风险。本综述将主要关注癫痫发作的预防性药物治疗,涉及一线治疗(丙戊酸盐和氯巴占)以及二线治疗(司替戊醇、托吡酯、生酮饮食)或更后期的选择(左乙拉西坦、溴化物、迷走神经刺激)。应避免使用钠通道阻滞剂,包括卡马西平、奥卡西平、苯妥英和拉莫三嗪,因为它们通常会加重癫痫发作。几种正在研发的药物可能有前景,特别是芬氟拉明和大麻二酚,但它们需要在随机对照试验中进一步评估。除了预防性治疗外,所有患者都需要家庭急救药物和可在当地医院实施的癫痫持续状态治疗方案。必须向家属提供关于降低癫痫发作风险的非药物策略的咨询,包括避免常见的诱发癫痫发作的触发因素(包括高热、闪烁灯光和图案)。除了治疗癫痫发作外,对德雷维特综合征患者的整体护理必须由多学科团队进行,该团队包括物理治疗、职业治疗和言语治疗、神经心理学、社会工作和物理医学方面的专家。