Department of Biomedical and Neuromotor Sciences, Alma Mater Studiorum, University of Bologna, Bologna, Italy.
Department of Biomedical and Neuromotor Sciences, Alma Mater Studiorum, University of Bologna, Bologna, Italy; IRCSS, Institute of Neurological Sciences, Bologna, Italy.
Sleep Med Rev. 2018 Apr;38:70-85. doi: 10.1016/j.smrv.2017.04.003. Epub 2017 May 8.
Narcolepsy type 1 is a life-long, severe, multifaceted disease often arising in childhood or adolescence. Beyond the classical symptoms (excessive daytime sleepiness, cataplexy, hallucinations, sleep paralysis and nocturnal fragmented sleep), metabolic, endocrinological, psychiatric and psychosocial aspects must be considered. Despite the increased awareness after H1N1 pandemic influenza and vaccination, narcolepsy is still misdiagnosed and unrecognized. The peculiar presentation of symptoms in narcoleptic children could in part explain the misdiagnoses. Excessive daytime sleepiness presenting as chronic drowsiness or irritability could be stigmatized as laziness or misinterpreted as behavior or inattention disorder. The persistent hypotonia and the complex hyperkinetic movements that characterize cataplexy close to the onset, could be misdiagnosed as a movement disorder or as other neurologic conditions. The consequent therapeutic delay could turn into dramatic consequences. The narcolepsy onset, indeed, is associated with abrupt weight gain and sometimes with precocious puberty that require a prompt recognition and treatment to avoid auxological and metabolic complications. Moreover, narcoleptic children could have behavioral and psychiatric disorders ranging from mood to psychotic ones that need ad hoc management. Accordingly, spreading the awareness outside the sleep specialist community is necessary in order to reduce the diagnostic delay and to obtain prompt and multidisciplinary management.
发作性睡病 1 型是一种终身的、严重的、多方面的疾病，通常在儿童或青少年时期发病。除了典型症状（白天过度嗜睡、猝倒、幻觉、睡眠瘫痪和夜间睡眠片段化）外，还必须考虑代谢、内分泌、精神和社会心理方面的问题。尽管甲型 H1N1 流感大流行和疫苗接种后，人们对发作性睡病的认识有所提高，但该病仍被误诊和漏诊。发作性睡病患儿症状的特殊表现部分解释了误诊的原因。白天过度嗜睡表现为慢性困倦或易怒，可能被污名化为懒惰，或被误解为行为或注意力障碍。猝倒发作时持续的低张力和复杂的多动运动接近发作时，可能被误诊为运动障碍或其他神经系统疾病。因此，治疗的延误可能会导致严重后果。事实上，发作性睡病的发病与突然的体重增加有关，有时还与性早熟有关，需要及时识别和治疗，以避免生长和代谢并发症。此外，发作性睡病患儿可能存在从情绪到精神病的行为和精神障碍，需要专门的管理。因此，需要在睡眠专家社区之外普及相关知识，以减少诊断延误，并获得及时的多学科管理。
