Abstract：
OBJECTIVE: This study was undertaken to gain consensus from experienced physicians and caregivers regarding optimal diagnosis and management of Dravet syndrome (DS), in the context of recently approved, DS-specific therapies and emerging disease-modifying treatments.
METHODS: A core working group was convened consisting of six physicians with recognized expertise in DS and two representatives of the Dravet Syndrome Foundation. This core group summarized the current literature (focused on clinical presentation, comorbidities, maintenance and rescue therapies, and evolving disease-modifying therapies) and nominated the 31-member expert panel (ensuring international representation), which participated in two rounds of a Delphi process to gain consensus on diagnosis and management of DS.
RESULTS: There was strong consensus that infants 2-15 months old, presenting with either a first prolonged hemiclonic seizure or first convulsive status epilepticus with fever or following vaccination, in the absence of another cause, should undergo genetic testing for DS. Panelists agreed on evolution of specific comorbidities with time, but less agreement was achieved on optimal management. There was also agreement on appropriate first- to third-line maintenance therapies, which included the newly approved agents. Whereas there was agreement for recommendation of disease-modifying therapies, if they are proven safe and efficacious for seizures and/or reduction of comorbidities, there was less consensus for when these should be started, with caregivers being more conservative than physicians.
CONCLUSIONS: This International DS Consensus, informed by both experienced global caregiver and physician voices, provides a strong overview of the impact of DS, therapeutic goals and optimal management strategies incorporating the recent therapeutic advances in DS, and evolving disease-modifying therapies.
METHODS: A core working group was convened consisting of six physicians with recognized expertise in DS and two representatives of the Dravet Syndrome Foundation. This core group summarized the current literature (focused on clinical presentation, comorbidities, maintenance and rescue therapies, and evolving disease-modifying therapies) and nominated the 31-member expert panel (ensuring international representation), which participated in two rounds of a Delphi process to gain consensus on diagnosis and management of DS.
RESULTS: There was strong consensus that infants 2-15 months old, presenting with either a first prolonged hemiclonic seizure or first convulsive status epilepticus with fever or following vaccination, in the absence of another cause, should undergo genetic testing for DS. Panelists agreed on evolution of specific comorbidities with time, but less agreement was achieved on optimal management. There was also agreement on appropriate first- to third-line maintenance therapies, which included the newly approved agents. Whereas there was agreement for recommendation of disease-modifying therapies, if they are proven safe and efficacious for seizures and/or reduction of comorbidities, there was less consensus for when these should be started, with caregivers being more conservative than physicians.
CONCLUSIONS: This International DS Consensus, informed by both experienced global caregiver and physician voices, provides a strong overview of the impact of DS, therapeutic goals and optimal management strategies incorporating the recent therapeutic advances in DS, and evolving disease-modifying therapies.
摘要：
目的：本研究旨在获得经验丰富的医生和护理人员关于Dravet综合征（DS）最佳诊断和治疗的共识，在最近批准的背景下，DS特异性治疗和新出现的疾病改善治疗。
方法：召集了一个核心工作组，由六名在DS方面具有公认专业知识的医生和两名Dravet综合征基金会代表组成。该核心小组总结了目前的文献(重点是临床表现，合并症,维护和救援治疗，和不断发展的疾病改善疗法），并提名了由31名成员组成的专家小组（确保国际代表性），参加了两轮Delphi程序，以就DS的诊断和管理达成共识。
结果：强烈的共识是2-15个月大的婴儿，出现首次长时间半间歇性癫痫发作或首次惊厥性癫痫持续状态伴发热或接种疫苗后，在没有其他原因的情况下，应该进行DS基因检测。小组成员同意特定合并症随时间的演变，但在优化管理方面达成的共识较少。还就适当的一线至三线维持疗法达成了协议，其中包括新批准的代理商。尽管人们同意推荐疾病改善疗法，如果它们被证明对癫痫发作和/或减少合并症安全有效，关于何时开始这些活动的共识较少，护理人员比医生更保守。
结论：本国际DS共识，由经验丰富的全球护理人员和医生的声音通知，提供了DS影响的有力概述，结合DS最新治疗进展的治疗目标和最佳管理策略，和不断发展的疾病改善疗法。
方法：召集了一个核心工作组，由六名在DS方面具有公认专业知识的医生和两名Dravet综合征基金会代表组成。该核心小组总结了目前的文献(重点是临床表现，合并症,维护和救援治疗，和不断发展的疾病改善疗法），并提名了由31名成员组成的专家小组（确保国际代表性），参加了两轮Delphi程序，以就DS的诊断和管理达成共识。
结果：强烈的共识是2-15个月大的婴儿，出现首次长时间半间歇性癫痫发作或首次惊厥性癫痫持续状态伴发热或接种疫苗后，在没有其他原因的情况下，应该进行DS基因检测。小组成员同意特定合并症随时间的演变，但在优化管理方面达成的共识较少。还就适当的一线至三线维持疗法达成了协议，其中包括新批准的代理商。尽管人们同意推荐疾病改善疗法，如果它们被证明对癫痫发作和/或减少合并症安全有效，关于何时开始这些活动的共识较少，护理人员比医生更保守。
结论：本国际DS共识，由经验丰富的全球护理人员和医生的声音通知，提供了DS影响的有力概述，结合DS最新治疗进展的治疗目标和最佳管理策略，和不断发展的疾病改善疗法。
