Sullivan Joseph, Deighton Alison M, Vila Maria Candida, Szabo Shelagh M, Maru Benit, Gofshteyn Jacqueline S, James Emma S, Rico Salvador, Zuberi Sameer M
University of California, San Francisco, CA, USA.
Broadstreet HEOR, Vancouver, BC, Canada.
Epilepsy Behav. 2022 May;130:108661. doi: 10.1016/j.yebeh.2022.108661. Epub 2022 Mar 22.
Dravet syndrome (DS) is a developmental and epileptic encephalopathy with evolving disease course as individuals age. In recent years, the treatment landscape of DS has changed considerably, and a comprehensive systematic review of the contemporary literature is lacking. Here we synthesized published evidence on the occurrence of clinical impacts by age, the economic and humanistic (health-related quality-of-life [HRQoL]) burden, and health state utility. We provide an evidence-based, contemporary visualization of the clinical manifestations, highlighting that DS is not limited to seizures; non-seizure manifestations appear early in life and increase over time, contributing significantly to the economic and humanistic burden of disease. The primary drivers of HRQoL in DS include seizure severity, cognition, and motor and behavioral problems; in turn, these directly affect caregivers through the extent of assistance required and consequent impact on activities of daily living. Unsurprisingly, costs are driven by seizure-related events, hospitalizations, and in-home medical care visits. This systematic review highlights a paucity of longitudinal data; most studies meeting inclusion criteria were cross-sectional or had short follow-up. Nonetheless, available data illustrate the substantial impact on individuals, their families, and healthcare systems and establish the need for novel therapies to address the complex spectrum of DS manifestations.
德拉韦综合征（DS）是一种随着个体年龄增长而病情不断演变的发育性癫痫性脑病。近年来，DS的治疗格局发生了很大变化，但缺乏对当代文献的全面系统综述。在此，我们综合了已发表的关于不同年龄段临床影响的发生情况、经济和人文（与健康相关的生活质量[HRQoL]）负担以及健康状态效用的证据。我们提供了基于证据的当代临床表现可视化展示，强调DS不仅限于癫痫发作；非癫痫发作表现出现在生命早期且随时间增加，对疾病的经济和人文负担有显著影响。DS中HRQoL的主要驱动因素包括癫痫发作严重程度、认知以及运动和行为问题；反过来，这些因素通过所需的协助程度以及对日常生活活动的后续影响直接影响照料者。不出所料，成本由与癫痫发作相关的事件、住院和家庭医疗就诊驱动。这项系统综述突出了纵向数据的匮乏；大多数符合纳入标准的研究是横断面研究或随访时间较短。尽管如此，现有数据说明了对个体、其家庭和医疗保健系统的重大影响，并确立了开发新疗法以应对DS复杂表现谱的必要性。
