Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel
Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel
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DOI：
10.1016/j.pediatrneurol.2017.01.025
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发表时间：
2017-03-01
影响因子：
3.8
通讯作者：
Berg, Anne T.
中科院分区：
文献类型：
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作者：
Wirrell, Elaine C.;Laux, Linda;Berg, Anne T.
目标：采用改良的德尔菲法，为Dravet综合征儿童和成人的合并症的评估和管理建立早期、经济有效和准确诊断的标准;癫痫发作的最佳治疗方法和建议。召集了一个专家小组，由在Dravet综合征方面具有全国公认的专业知识的癫痫学家和Dravet综合征儿童的父母组成，他们的经验和理解力因其在Dravet综合征协会中的积极作用而得到增强。要求小组成员根据其临床专业知识和转发给每个小组的文献综述结果回答问题。进行了三轮在线问卷调查，以确定领域的共识和力量的共识，以及领域的contents.RESULTS：该小组由13名医生和5名家庭成员。就Dravet综合征的典型临床表现、脑电图和磁共振成像结果的范围、基因检测的需要、诊断时应传达给家庭的关键信息、癫痫控制的优先级和典型控制程度、癫痫发作触发因素和避免建议、癫痫发作的一线和二线治疗、补救治疗的要求和适应症达成了强烈共识，对科摩罗筛查的具体建议，以及对家庭支持的需求。对于后来的治疗方法（包括迷走神经刺激和胼胝体切开术）以及相关合并症的具体治疗方法，共识并不那么强烈。除了苯二氮卓类药物的初始治疗和丙戊酸盐的使用外，关于惊厥性癫痫持续状态的最佳院内治疗方法尚无共识。我们能够确定有强烈共识的领域，我们希望（1）告知卫生保健提供者对Dravet综合征患者的最佳诊断和管理，（2）支持保险公司报销基因检测和Dravet综合征特异性治疗费用，以及（3）通过避免不必要的检查和提供早期准确的诊断，改善Dravet综合征患者及其家属的生活质量。诊断允许选择最佳的治疗策略。(C)2017爱思唯尔公司All rights reserved.
OBJECTIVES: To establish standards for early, cost-effective, and accurate diagnosis; optimal therapies for seizures; and recommendations for evaluation and management of comorbidities for children and adults with Dravet syndrome, using a modified Delphi process.METHODS: An expert panel was convened comprising epileptologists with nationally recognized expertise in Dravet syndrome and parents of children with Dravet syndrome, whose experience and understanding was enhanced by their active roles in Dravet syndrome associations. Panelists were asked to base their responses to questions both on their clinical expertise and results of a literature review that was forwarded to each panelist. Three rounds of online questionnaires were conducted to identify areas of consensus and strength of that consensus, as well as areas of contention.RESULTS: The panel consisted of 13 physicians and five family members. Strong consensus was reached regarding typical clinical presentation of Dravet syndrome, range of electroencephalography and magnetic resonance imaging findings, need for genetic testing, critical information that should be conveyed to families at diagnosis, priorities for seizure control and typical degree of control, seizure triggers and recommendations for avoidance, first-and second-line therapies for seizures, requirement and indications for rescue therapy, specific recommendations for comorbidity screening, and need for family support. Consensus was not as strong regarding later therapies, including vagus nerve stimulation and callosotomy, and for specific therapies of associated comorbidities. Beyond the initial treatment with benzodiazepines and use of valproate, there was no consensus on the optimal in-hospital management of convulsive status epilepticus.CONCLUSIONS: We were able to identify areas where there was strong consensus that we hope will (1) inform health care providers on optimal diagnosis and management of patients with Dravet syndrome, (2) support reimbursement from insurance companies for genetic testing and Dravet syndrome-specific therapies, and (3) improve quality of life for patients with Dravet syndrome and their families by avoidance of unnecessary testing and provision of an early accurate diagnosis allowing optimal selection of therapeutic strategies. (C) 2017 Elsevier Inc. All rights reserved.