发作性睡病

发作性睡病(narcolepsy)是一种以日间难以抗拒的睡眠发作、猝倒、睡眠瘫痪及睡眠幻觉为主要特征的慢性神经系统疾病,长期困扰患者的身心健康,影响到生活的各方面,甚至可以导致职业能力丧失,提前退休,严重者可酿成意外危及生命。临床工作中对此病认识不足,容易误诊误治,早期发现、早期治疗十分必要。本文就发作性睡病的临床特征、诊断和治疗进展作一综述。     

发作性睡病

<正>发作性睡病少见,而且容易误诊。自1998年8月至2003年11月,我科诊治11例,报道如下。 临床资料 1.一般资料 男性8例,女性3例,发病年龄15~20岁6例,21~30岁4例,38岁1例:病程:0.5~2年8例,3年以上3例。 2.主要临床表现,本组所有病例均表现为不可抗拒的睡     

发作性睡病一家系5例报告

发作性睡病是一种以长期的警醒程度减退和发作性的不可抗拒的睡眠为主要临床表现的疾病。现报告１家系５例如下。先证者（Ⅲ５），女性，学生，１５岁。患者一年前出现不可抗拒的睡眠，每天发作１～３次，每次数分钟到１小时，特别在午后发作最多，但别人呼唤后即刻清醒。...     

发作性睡病11例临床分析

发作性睡病是一种不明原因的发作性睡眠障碍,临床少见。现将我院近5年来收治的11例分析如下。     

发作性睡病夜间睡眠结构特征的探讨

目的了解发作性睡病患者夜间睡眠结构特点。方法对10例符合发作性睡病国际睡眠疾病分类最低诊断标准的发作性睡病患者和13例正常对照者连续进行两夜夜间多导睡眠图监测,比较两组各项睡眠参数,并分析发作性睡病患者的夜间睡眠结构特点。结果发作性睡病组患者的夜间睡眠潜伏期和快速眼动睡眠潜伏期缩短(P<0．01),在整个睡眠过程中睡眠始发快速眼动时段出现比例明显升高(P<0．01),唤醒指数和睡眠纺锤波密度增高(P<0．05),睡眠转换次数和清醒次数及S1期睡眠比例增加(P<0．01),S2期和S3 S4期比例减少(P<0．01),快速眼动密度增加(P<0．01);全夜快速眼动睡眠时段持续时间无逐渐延长趋势。与对照组受试者睡眠生理参数相比,差异具有显著性意义(P<0．05或P< 0．01)。结论发作性睡病患者夜间睡眠结构的特征为快速眼动活动增强,睡眠维持机制紊乱,中枢唤醒水平降低。     

发作性睡病1例报告

发作性睡病同时合并四组症状者少见,今将所见1例报告如下: 患者张××,男,57岁,已婚,初中文化,部队干部。性格内向、无不良嗜好。既往无头部外伤及癫痫病史,无特殊病家族史。患者于1973年3月无明显原因出现发作性不能克制的嗜睡,每次约5～10分钟,每日3～5次。发作时突感全身无力而倒地鼾睡,与普通睡眠无异。一般刺激不能使其觉醒,醒后如常人,对发作过程能清楚回忆。发作前不头疼,无抑郁心境体验,夜间     

发作性睡病研究进展

<正>发作性睡病(Narcolepsy)以白天不可抗拒的嗜睡、猝倒、睡眠幻觉、睡眠瘫痪、夜间睡眠紊乱为主要临床特点,是一种慢性神经系统疾病。与睡不着-失眠相比,睡不醒-发作性睡病有更大的危害,可严重影响患者的工作学习生活,甚至造成意外事故危及生命。发作性睡病是一种终身性睡眠障碍疾病,主要发生于15～30岁的青少年,不同国家人群发病率不同,国人发病率为0. 04%~([1]),由于其发病率低,加上临     

发作性睡病四联征一例

患者 男,16岁,初三学生。自14岁起出现不可抗拒的发作性白天睡眠,每天发作10余次,每次几分钟到十几分钟不等,严重影响患者生活和学习。有2次因在骑自行车回家途中睡着而发生撞车事故。虽采取多种方法干预但均不     

发作性睡病4例报告

发作性睡病不多见,现将近期门诊4例病例报道如下: 例1 刘金芝,女20岁,未婚,农民,门诊号24940。因发作性多睡3年于2月19日初次来诊。患者从17岁起无明原因的出现多睡,不能自控,每次发作10几分钟到3小时不等,春季发作频繁时每日可达10几次。睡眼中叫之能醒,醒后又睡。不分时间地点,有时在麦场及坡地里倒地就睡。不让睡称全身无力,心烦不安,每次发作前有脑子不     

发作性睡病36例临床分析

目的探讨发作性睡病的临床特征、诊断、治疗及预后。方法对36例发作性睡病患者进行睡眠脑电图监测,结合临床表现进行诊断,采用哌醋甲酯、氯酯醒、氯丙米嗪治疗,并进行随访。结果36例患者均有过度或发作性的不可抑制的白天睡眠,30例有夜间睡眠紊乱,25例伴猝倒,9例伴睡眠瘫痪,10例出现睡眠幻觉。睡眠脑电图监测显示36例患者平均睡眠潜伏期<5 min,有2次或2次以上直接进入快速眼动相睡眠。随访29例,其中20例采用哌醋甲酯治疗,17例白天过度睡眠得到改善;8例采用氯酯醒或合并氯丙米嗪治疗,5例症状改善;大多数患者出现不同程度的心理和学习问题。结论发作性睡病是慢性神经系统疾病,应根据其典型的临床表现及睡眠脑电监测结果作出早期诊断,对患者应给予长期的药物治疗、心理治疗和教育,以提高患者的生活质量。     

Sodium oxybate treatment in narcolepsy and its effect on muscle tone

AimsTo estimate the effect of the compound sodium oxybate (SO) on chin muscle tone in sleep, a re-analysis of the results of the international multicenter study SXB-15 was performed, applying a validated semi-automatic analysis of muscle tone. This analysis distinguishes short (<0.5 s) and long (>0.5 s) muscle activity indices per hour (SMI, LMI) in 116 patients with narcolepsy-cataplexy. While stable stimulant medication was permitted, tricyclics and SSRIs were withdrawn. Polysomnographies were performed at baseline (V5), four weeks after titration of SO to 4.5 g, 6 g, or 9 g or placebo (V6) and after another four weeks on stable SO dose (V7).ResultsSMI and LMI decreased significantly during light sleep. LMI remained stable in all SO groups during slow wave sleep (SWS), but decreased significantly during REM sleep. SMI decreased non-significantly, but consistently during SWS and REM in the 9 g group only. A subgroup analysis of patients who stayed on stimulants showed that they had higher SMIs and LMIs in all groups. Patients who had been treated with anticataplectic medication prior to study inclusion had lower LMIs in the 9 g group during REM sleep in all visits.ConclusionSO has a differential effect on muscle tone that is dose and sleep stage dependent. Low dosages increase short muscle activity, possibly enabling the occurrence of parasomnias. High doses are especially efficacious in REM sleep, suggesting that SO could be used to treat REM sleep behavior disorder. Comedication with stimulants and prior medication with anticataplectic medication exerts an influence on muscle tone.     

2018 worldwide survey of health-care providers caring for patients with narcolepsy: WSS narcolepsy task force

BackgroundThere are limited data available on regional differences in the diagnosis and management of narcolepsy. In order to better understand worldwide trends in clinical assessment and management of narcolepsy, a survey of health-care providers was conducted by the World Sleep Society Narcolepsy task force.MethodsA total of 146 surveys that included items on the diagnosis and management of narcolepsy were completed by practitioners representing 37 countries.ResultsMost of the participants were from Europe, North America, Oceania, Asia and Latin America. A consistent approach to applying the diagnostic criteria of Narcolepsy was documented with the exception of measurement of CSF hypocretin-1, which has limited availability. While the majority of practitioners (58%) reported not using the test, 1% indicated always evaluating CSF hypocretin-1 levels. There was much variability in the availability of currently recommended medications such as sodium oxybate and pitolisant; modafinil and antidepressants were the most commonly used medications. Amphetamines were unavailable in some countries.ConclusionThe results of the study highlight clinical and therapeutic realities confronted by worldwide physicians in the management of narcolepsy. While the diagnostic criteria of narcolepsy rely in part on the quantification of CSF hypocretin-1, few physicians reported having incorporated this test into their routine assessment of the condition. Regional differences in the management of narcolepsy appeared to be related to geographic availability and expense of the therapeutic agents.     

The clinical presentation of childhood partial arousal parasomnias

Objectives: The goal of the current study was to compare the sleep characteristics of children diagnosed with a partial arousal parasomnia to a community sample and further, to compare children diagnosed with sleep terrors to those diagnosed with sleepwalking.Background: Many children experience frightened awakenings, with up to 15% meeting criteria for a parasomnia. Despite this, very little empirical data exists examining parasomnias in childhood.Method: The parents of children (between 2 and 12 years of age) referred to a pediatric sleep disorders clinic completed the Children's Sleep Habits Questionnaire (CSH) on their child. The group meeting criteria for partial parasomnia was then matched with a community sample to identify differences in sleep characteristics between children with parasomnias and a normative sample.Results: Children with parasomnias had higher rates of bedtime resistance, sleep onset delay, night waking, and reduced sleep duration than a matched community sample. Sleepwalkers had more sleep onset problems than children with sleep terrors. Almost one quarter of sleepwalkers between 3 and 12 years of age reported nocturnal enuresis.Conclusions: Children with partial arousal parasomnias do have slightly more disturbed sleep than community controls.     

Pediatric narcolepsy

Narcolepsy is a disabling disease with a prevalence of 0.05%. It is characterized by excessive daytime sleepiness, cataplexy, sleep paralysis, hypnogogic hallucinations, automatic behavior, and disrupted nocturnal sleep. The presentation can be very variable, making diagnosis difficult. Loss of hypocretin containing neurons in the lateral hypothalamus has been noted in autopsy studies, and the cerebrospinal fluid level of hypocretin is reduced in patients with narcolepsy with cataplexy. New treatment options are available for the many symptoms of this disease. Early recognition and treatment can greatly improve the quality of life of patients with narcolepsy. A detail review of the epidemiology, pathophysiology, and management of narcolepsy in children is presented.     

Semantic priming effect during REM-sleep inertia in patients with narcolepsy

Patients with narcolepsy-cataplexy (NC) present excessive daytime sleepiness (EDS), cataplexy and an altered architecture of nocturnal sleep, with frequent episodes of REM-sleep at sleep onset (SOREM-sleep). This altered organization of nocturnal sleep may be accompanied by some differences in the functioning of the cognitive processes involved in the access, organization and consolidation of information during sleep. This study attempts to ascertain whether the activation of semantic memory during REM-sleep, as measured using a technique of semantic priming (namely, the facilitation of the activation of strongly-related rather than weakly-related and, overall, unrelated pairs of prime-target words) is different in NC patients compared to normal subjects. A lexical decision task (LDT) was carried out twice in wakefulness (at 10a.m. and after a 24h interval) and twice in the period of sleep inertia following awakening from SOREM and 4th-cycle REM-sleep on 12 NC patients and from 1st- and 4th-cycle REM-sleep on 12 matched controls. Reaction time (RT) to target words, taken as a measure of the semantic priming effect, proved to be longer (a) in NC patients than in control subjects; (b) in the period of REM-sleep inertia than in wakefulness; (c) in the first rather than the second session; and (d) for unrelated compared to weakly-related and, overall, strongly-related prime-target pairs. RT in post-REM-sleep sessions was less impaired, compared to waking sessions, and less dependent on the associative strength of prime-target pairs in NC patients than in normal subjects. Finally, RT of NC patients, although longer than that of normal subjects in waking sessions, significantly improved in the second session, as a consequence of either the amount of exercise or the consolidation advantage provided by REM-sleep for the procedural components of the task. The whole picture suggests a greater effectiveness of the activation of semantic memory during (SO)REM-sleep in NC patients rather than in normal subjects, and overall for the organization of new and unexpected relationships (such as those between unrelated pairs) between items of information.     

Treatment with immunosuppressive and anti-inflammatory agents delays onset of canine genetic narcolepsy and reduces symptom severity

All Doberman pinschers and Labrador retrievers homozygous for a mutation of the hypocretin (orexin) receptor-2 (hcrtr2) gene develop narcolepsy under normal conditions. Degenerative changes and increased display of major histocompatibility complex class II antigens have been linked to symptom onset in genetically narcoleptic Doberman pinschers. This suggests that the immune system may contribute to neurodegenerative changes and narcoleptic symptomatology in these dogs. We therefore attempted to alter the course of canine genetic narcolepsy, as an initial test of principle, by administering a combination of three immunosuppressive and anti-inflammatory drugs chosen to suppress the immune response globally. Experimental dogs were treated with a combination of methylprednisolone, methotrexate and azathioprine orally starting within 3 weeks after birth, and raised in an environment that minimized pathogen exposure. Symptoms in treated and untreated animals were quantified using the food elicited cataplexy test (FECT), modified FECT and actigraphy. With drug treatment, time to cataplexy onset more than doubled, time spent in cataplexy during tests was reduced by more than 90% and nighttime sleep periods were consolidated. Short-term drug administration to control dogs did not reduce cataplexy symptoms, demonstrating that the drug regimen did not directly affect symptoms. Treatment was stopped at 6 months, after which experimental animals remained less symptomatic than controls until at least 2 years of age. This treatment is the first shown to affect symptom development in animal or human genetic narcolepsy. Our findings show that hcrtr2 mutation is not sufficient for the full symptomatic development of canine genetic narcolepsy and suggest that the immune system may play a role in the development of this disorder.     

A comparative study of methods for automatic detection of rapid eye movement abnormal muscular activity in narcolepsy

ObjectiveTo evaluate rapid eye movement (REM) muscular activity in narcolepsy by applying five algorithms to electromyogram (EMG) recordings, and to investigate its value for narcolepsy diagnosis.Patients/methodsA modified version of phasic EMG metric (mPEM), muscle activity index (MAI), REM atonia index (RAI), supra-threshold REM EMG activity metric (STREAM), and Frandsen method (FR) were calculated from polysomnography recordings of 20 healthy controls, 18 clinic controls (subjects suspected with narcolepsy but finally diagnosed without any sleep abnormality), 16 narcolepsy type one without REM sleep behavior disorder (RBD), nine narcolepsy type one with RBD, and 18 narcolepsy type two. Diagnostic value of metrics in differentiating between groups was quantified by area under the receiver operating characteristic curve (AUC). Correlations among the metrics and cerebrospinal fluid hypocretin-1 (CSF-hcrt-1) values were calculated using linear models.ResultsAll metrics excluding STREAM found significantly higher muscular activity in narcolepsy one cases versus controls (p < 0.05). Moreover, RAI showed high sensitivity in the detection of RBD. The mPEM achieved the highest AUC in differentiating healthy controls from narcoleptic subjects. The RAI best differentiated between narcolepsy 1 and 2. Lower CSF-hcrt-1 values correlated with high muscular activity quantified by mPEM, sMAI, lMAI, PEM and FR (p < 0.05).ConclusionsThis automatic analysis showed higher number of muscle activations in narcolepsy 1 compared to controls. This finding might play a supportive role in diagnosing narcolepsy and in discriminating narcolepsy subtypes. Moreover, the negative correlation between CSF-hcrt-1 level and REM muscular activity supported a role for hypocretin in the control of motor tone during REM sleep.