Morse Anne Marie
Division of Pediatric Neurology, Janet Weis Children's Hospital, Geisinger, Danville, PA 17820, USA.
Med Sci (Basel). 2019 Nov 27;7(12):106. doi: 10.3390/medsci7120106.
Narcolepsy is a rare condition that affects children and adults, and commonly has an onset in childhood. Time to appropriate diagnosis frequently is at least a decade. Unrecognized or misdiagnosed symptoms of narcolepsy contribute to increased morbidity, disability and socioeconomic liability in these patients. Delays in diagnosis may be related to variability in presentation in childhood, lack of familiarity with symptoms or appropriate diagnostic testing or misdiagnosis with accidental introduction of treatment that may modify or mask narcolepsy features. Improved awareness about the diagnosis and tailored therapies improve clinical and socioeconomic outcomes by reducing time to effective treatment. Application of effective treatment results in long-term benefits by improving clinical outcomes, potentially enabling improved education, increased employment opportunity, and improved work productivity and quality of life. This review provides a comprehensive stepwise approach to improve knowledge and comfort for recognition of symptoms, diagnostic strategies and management considerations of narcolepsy in children and adults.
发作性睡病是一种影响儿童和成人的罕见病症,通常在儿童期发病。至恰当诊断的时间通常至少为十年。发作性睡病未被识别或误诊的症状会导致这些患者的发病率、残疾率增加以及社会经济负担加重。诊断延迟可能与儿童期表现的变异性、对症状或恰当诊断测试缺乏了解、或因意外采用可能改变或掩盖发作性睡病特征的治疗而误诊有关。提高对诊断的认识并采用针对性疗法可通过缩短至有效治疗的时间来改善临床和社会经济结局。应用有效治疗可通过改善临床结局带来长期益处,有可能促进教育改善、增加就业机会,并提高工作效率和生活质量。本综述提供了一种全面的逐步方法,以提高对儿童和成人发作性睡病症状识别、诊断策略及管理考量的认识和把握度。