Andrade Danielle M, Berg Anne T, Hood Veronica, Knupp Kelly G, Koh Sookyong, Laux Linda, Meskis Mary Anne, Miller Ian, Perry M Scott, Scheffer Ingrid E, Sullivan Joseph, Villas Nicole, Wirrell Elaine
Adult Epilepsy Genetics Program, Division of Neurology, Krembil Brain Institute, Toronto Western Hospital, University of Toronto, Toronto, Canada.
Ann & Robert H. Lurie Children's Hospital of Chicago, Departments of Pediatrics and Neurological Surgery, Northwestern Feinberg School of Medicine, Chicago, USA.
Epilepsy Res. 2021 Nov;177:106743. doi: 10.1016/j.eplepsyres.2021.106743. Epub 2021 Aug 18.
Dravet syndrome (DS) is still seen as a "pediatric disease", where patients receive excellent care in pediatric centers, but care is less than optimal in adult health care systems (HCS). This creates a barrier when young adults need to leave the family-centered pediatric system and enter the adult, patient-centered HCS. Here we create a guide to help with the transition from pediatric to adult for patients with DS.
Experts in Dravet syndrome flagged the main barriers in caring for adults with DS and created a 2-page transition summary guide based on their expertise and a literature review.
The 2-page guide addresses: DS diagnosis in children and adults; clinical manifestations, including the differences in seizures types and frequencies between children and adults with DS; the natural history of intellectual disability, behavior, gait, motor disorders and dysautonomia; a review of optimal treatments (including medications not commonly used in adult epilepsy settings such as stiripentol and fenfluramine), as well as emergency seizure management; avoidance of triggers, preventive measures, and vaccine administration in adults with DS.
Several young adults with DS are still followed by their child neurologist. This 2-page transition guide should help facilitate the transition of patients with DS to the adult HCS and should be given to families as well as adult health care providers that may not be familiar with DS.
德雷维特综合征（DS）仍被视为一种“儿科疾病”，患者在儿科中心能得到优质护理，但在成人医疗保健系统（HCS）中护理则不尽如人意。当年轻人需要离开以家庭为中心的儿科系统，进入以患者为中心的成人HCS时，这就造成了障碍。在此，我们创建了一份指南，以帮助DS患者从儿科过渡到成人阶段。
德雷维特综合征专家指出了护理成年DS患者的主要障碍，并根据他们的专业知识和文献综述创建了一份两页的过渡总结指南。
这份两页的指南涵盖以下内容：儿童和成人DS的诊断；临床表现，包括儿童和成人DS患者癫痫发作类型和频率的差异；智力残疾、行为、步态、运动障碍和自主神经功能障碍的自然病史；最佳治疗方法综述（包括成人癫痫治疗中不常用的药物，如司替戊醇和芬氟拉明），以及癫痫发作的紧急处理；DS成人患者避免触发因素、预防措施和疫苗接种。
仍有几名成年DS患者由他们儿时的神经科医生随访。这份两页的过渡指南应有助于促进DS患者向成人HCS的过渡，应分发给家庭以及可能不熟悉DS的成人医疗保健提供者。
