Barker Emily C, Flygare Julie, Paruthi Shalini, Sharkey Katherine M
Case Western Reserve University School of Medicine, Department of Pediatrics, Cleveland, OH, USA.
Project Sleep, Los Angeles, CA, USA.
Nat Sci Sleep. 2020 Jul 16;12:453-466. doi: 10.2147/NSS.S162762. eCollection 2020.
Narcolepsy is a neurological disorder of the sleep-wake cycle characterized by excessive daytime sleepiness (EDS), cataplexy, nighttime sleep disturbances, and REM-sleep-related phenomena (sleep paralysis, hallucinations) that intrude into wakefulness. Dysfunction of the hypocretin/orexin system has been implicated as the underlying cause of narcolepsy with cataplexy. In most people with narcolepsy, symptom onset occurs between the ages of 10 and 35 years, but because the disorder is underrecognized and testing is complex, delays in diagnosis and treatment are common. Narcolepsy is treated with a combination of lifestyle modifications and medications that promote wakefulness and suppress cataplexy. Treatments are often effective in improving daytime functioning for individuals with narcolepsy, but side effects and/or lack of efficacy can result in suboptimal management of symptoms and, in many cases, significant residual impairment. Additionally, the psychosocial ramifications of narcolepsy are often neglected. Recently two new pharmacologic treatment options, solriamfetol and pitolisant, have been approved for adults, and the indication for sodium oxybate in narcolepsy has been expanded to include children. In recent years, there has been an uptick in patient-centered research, and promising new diagnostic and therapeutic options are in development. This paper summarizes current and prospective pharmacological therapies for treating both EDS and cataplexy, discusses concerns specific to children and reproductive-age women with narcolepsy, and reviews the negative impact of health-related stigma and efforts to address narcolepsy stigma.
发作性睡病是一种睡眠-觉醒周期的神经系统疾病，其特征为日间过度嗜睡（EDS）、猝倒、夜间睡眠障碍以及侵入清醒状态的快速眼动睡眠相关现象（睡眠麻痹、幻觉）。下丘脑分泌素/食欲素系统功能障碍被认为是发作性睡病伴猝倒的潜在病因。在大多数发作性睡病患者中，症状通常在10至35岁之间出现，但由于该疾病未得到充分认识且检测复杂，诊断和治疗往往会延迟。发作性睡病的治疗采用生活方式调整与促进清醒及抑制猝倒的药物相结合的方法。治疗通常能有效改善发作性睡病患者的日间功能，但副作用和/或疗效不佳可能导致症状管理不理想，在许多情况下还会造成严重的残留损害。此外，发作性睡病对心理社会的影响常常被忽视。最近，两种新的药物治疗选择，即索利那非和匹托利生，已被批准用于成人，并且羟丁酸钠在发作性睡病中的适应证已扩大至包括儿童。近年来，以患者为中心的研究有所增加，并且有前景的新诊断和治疗选择正在研发中。本文总结了当前及未来治疗日间过度嗜睡和猝倒的药物疗法，讨论了发作性睡病儿童和育龄妇女的特殊问题，并综述了与健康相关的污名化的负面影响以及应对发作性睡病污名化的努力。
