家族性发作性睡病

本文对3个家族中8例发作性睡病进行了总结，发现有猝例，睡瘫和睡前幻觉的分别为63%、38%、13%。从家族史分析可看出是常染色体显性遗传，具有相同的遗传基础HLADR2。作者还对本病的遗传因素，神经介质相关的功能变化及治疗进展进行了讨论。     

家族性发作性睡病(附4例报告及家系调查)

本文报告4例发作性睡病,均呈家族性发生,并进行了家系调查。对四个家族的16例患者的症状分析发现,本组除主症睡眠发作外,伴睡眠瘫痪者居多,占9例(56.2％),而猝倒发作的发生率却很低,仅占2例(12.5％)。家系调查结果提示,本病与遗传有密切关系,其遗传方式可能是常染色体显性遗传。     

猝倒型发作性睡病患者的神经影像学研究进展

猝倒型发作性睡病是一种睡眠-觉醒障碍疾病,发病可能与免疫、遗传、环境、感染、中枢神经系统退行性病变等因素有关,近年来神经影像学技术的发展促进了我们对猝倒型发作性睡病生物学机制的理解。该文汇总了猝倒型发作性睡病患者最新的神经影像学进展,以期阐明该病可能的神经影像学特征。     

32例儿童发作性睡病临床特征分析

目的 加强对儿童发作性睡病临床特征及诊断方法的认识. 方法 回顾性分析自2008年9月至2011年9月北京市儿童医院神经科和解放军总医院儿童医学中心收治的32例发作性睡病患儿资料,同时对相关文献进行回顾分析. 结果 32例发作性睡病患儿均有日间不可抗拒的入睡发作,26例(81.3％)存在猝倒发作,11例(34.4％)存在睡眠幻觉,仅2例(6.25％)存在睡眠瘫痪表现.患儿多以日间睡眠增多为起病症状,大多数患儿有夜间睡眠紊乱、易激惹的临床表现,性格改变、食欲及体重增加、青春期提前也是常见的临床症状.多次小睡睡眠潜伏期试验(MSLT)检查在患儿中阳性率较低,可能与患儿年龄小、病程短等因素有关. 结论 不可抗拒的入睡发作、猝倒发作是中国儿童发作性睡病典型的临床表现,结合多导睡眠图和MSLT可明确诊断.     

创伤性脑损伤后继发性1型发作性睡病1例

1型发作性睡病是一种罕见的中枢神经系统疾病, 一般认为是环境因素和遗传因素相互作用的结果。创伤性脑损伤(TBI)是继发性发作性睡病最常见的病因之一。目前国内外关于TBI后发作性睡病的报道非常少见。本例是国内报道的首例HLA-DQB1*06:02阳性的TBI后1型发作性睡病患者。现将我院收治的这例患者的临床资料进行回顾性分析, 旨在提高临床医师对该疾病诊断及其发病机制的认识。     

发作性睡病研究进展

下丘脑Hypocretin(Hcrt)/Orexin能系统的发现及其与发作性睡病之间的关系是睡眠医学领域的重大研究进展之一。Hcrt/Orexin是睡眠-觉醒周期调节的主要促醒物质。相关研究成果业已转化为临床应用,其中脑脊液Hcrt/Orexin测定已作为发作性睡病的诊断"金标准"和分型依据。发作性睡病患者下丘脑Hcrt/Orexin能神经元凋亡的遗传免疫学机制研究也获得突破性进展。针对Hcrt/Orexin受体的药物也成为睡眠障碍药物治疗的新靶点。     

发作性睡病

本文分析了发作性睡病为临床少见疾病,其主要临床特征为①发作性不可抗拒的睡眠;②猝倒类型为发作性突然肌张力丧失;②睡瘫症;④入睡性幻觉症或叫半醒状态现像;⑤同时伴有ERM相睡眠起始的脑电图特征.完全具备以上5条者更为少见,约为10％左右。大多病人为其中一项或两项。同时对发作机制从脑干网状系统的结构功能及神经递质方面加以探讨,对与之鉴别疾病做了初步分析。提出了部分治疗方法。     

发作性睡病免疫学机制

发作性睡病是一种严重的睡眠障碍,其中猝倒型患者下丘脑大量 Hypoeretin （ Hcrt）/Orexin能神经元缺失可能是自身免疫性因素选择性破坏下丘脑Hcrt能神经元所致。流行病学调查资料显示,发作性睡病发病率升高与甲型H1N1流感病毒感染、疫苗接种、化脓性链球菌感染密切相关;而且遗传闲素（（HLA-DOB1＊0602、P2RY11基囚多态性）和自身免疫性因素（TCR-α基因多态性、肿瘤坏死因子-α）亦参与其中。大剂量静脉滴注免疫球蛋白可暂时改善猝倒发作症状,但针对下丘脑Hcrt能神经元自身抗体或T细胞反应的治疗措施尚无确凿证据。随着对发作性睡病病因学研究的深入,其免疫学研究将是未来的热点领域。     

发作性睡病免疫学机制

发作性睡病是一种严重的睡眠障碍,其中猝倒型患者下丘脑大量Hypocretin(Hcrt)/Orexin能神经元缺失可能是自身免疫性因素选择性破坏下丘脑Hcrt能神经元所致。流行病学调查资料显示,发作性睡病发病率升高与甲型H1N1流感病毒感染、疫苗接种、化脓性链球菌感染密切相关;而且遗传因素(HLA-DQB1*0602、P2RY11基因多态性)和自身免疫性因素(TCR-α基因多态性、肿瘤坏死因子-α)亦参与其中。大剂量静脉滴注免疫球蛋白可暂时改善猝倒发作症状,但针对下丘脑Hcrt能神经元自身抗体或T细胞反应的治疗措施尚无确凿证据。随着对发作性睡病病因学研究的深入,其免疫学研究将是未来的热点领域。     

癌症性精神障碍遗传学研究

目的 探讨癔症性精神障碍的遗传方式。方法 对20例癔症性精神障碍家系采用多基因阈值模式理论进行遗传方式的探讨。结果 本病有较高的家族聚集性,血缘关系越近,亲属的患病率越高,加权平均遗传率为60.5％。结论 癔症性精神障碍的遗传方式可能为多基困遗传。     

Awareness and knowledge of obstructive sleep apnea among the general population

BackgroundObstructive sleep apnea (OSA) is an increasingly prevalent condition that remains largely undiagnosed. We aimed to assess the level of awareness and knowledge of OSA among the general population.MethodsThe Singapore Health 2 was a population-based study that comprised interview and health screening components. Out of 2720 subjects who completed the interview component, 2080 subjects gave consent for further health surveys. We contacted these subjects and conducted a structured telephone interview.ResultsWe completed 1306 telephone interviews (response rate 62.8%). Two hundred and eighty-one (21.5%) respondents were aware of OSA, but only 170 (13.0%) respondents could define OSA correctly. A total of 77 (5.9%), 158 (12.1%), 150 (11.5%) and 110 (8.4%) respondents were able to correctly list at least one risk factor, symptom, health consequence and treatment options for OSA, respectively. The most common sources of information about OSA were traditional media such as newspapers (42.0%), internet (14.2%) or relatives and friends (14.6%). On multivariate analysis, respondents were more likely to define OSA correctly if they were older (≥61years), (odds ratio of 2.99, 95% Confidence Interval [CI]: 1.66–5.41), were Chinese as compared to Indians (odds ratio 2.63, 95% CI: 1.46–4.72), had higher levels of income (odds ratio 2.18, 95% CI 1.16–4.10) and post-secondary education (odds ratio 2.87, 95% CI: 1.28–6.45).ConclusionAwareness and knowledge of OSA among the general population is currently poor. The effectiveness of ongoing health education campaigns to increase awareness should be monitored by examining temporal trends in public knowledge of sleep apnea.     

How representative are insomnia clinical trials?

ObjectivesTo address the question of how representative subjects studied in hypnotic clinical trials are of the broader insomnia population, this study assessed initial contact rates and reasons for inclusion and exclusion during recruitment to an efficacy trial and to a safety trial of Food & Drug Administration (FDA) approved hypnotics.MethodsOtherwise heathy persons meeting Diagnostic Statistical Manual, Fourth Edition, Revised (DSM-IVR) criteria for insomnia were recruited. In one study, persons 32–65 yrs, were invited to a 12 month trial of nightly use of zolpidem or placebo. In the other, persons 21–64 yrs with driver's licenses were recruited to test the effects of a hypnotic on live on-the-road driving ability. In both studies screening was conducted through an initial telephone interview followed by a clinic visit.ResultsIn the United States (US) study 13% (n = 410) of 3180 initial contacts and in the Netherlands (NL) study 67% (n = 53) of the 79 initial contacts proceeded to the clinic visit. Of those at clinic 25% of US and 37% of NL participants failed to meet additional insomnia criteria. Mental health exclusions accounted for 24% of US and 23% of NL participants and medical problems accounted for 23% of US and 9% NL exclusions. Finally 20% of US and 26% of NL participants were excluded for drug use/abuse histories. After all screening 4% of the initial US contacts and 0% of the NL contacts entered the study.ConclusionsThese data suggest persons entering insomnia hypnotic clinical trials are a highly selected sample that is unlikely to be representative of the broad insomnia population or the population of potential medication users.     

Will daytime occupational noise exposures induce nighttime sleep disturbance?

BackgroundNighttime environmental noise affects sleep quality. However, the effects of daytime occupational noise remain unclear.MethodsA quasi-experiment of 48 participants who had been employed for at least six months in two hospital cafeterias. The participants were randomly designated to be assessed on high- and low-noise workdays for 8 h or low- and high-noise workdays, separated by a washout period of 14 days. Subsequently, pure tone audiometry, autonomic nervous system (ANS) function tests, serum cortisol tests, and polysomnography were conducted.ResultsFor the 40 participants in the study, the 8-h time-weighted average of personal noise exposed on high- and low-noise workdays was 76.8 dBA (standard deviation, SD: 6.2) and 61.0 dBA (SD: 7.1), respectively. Participants with higher personal noise exposure during the day were found to have a lower percentage of slow wave sleep (percent change of mean value: −1.287%; 95% CI: −2.602%, −0.037%) and lower sleep efficiency (−0.267%; 95% CI: −0.525%, −0.008%). In addition, after work, personal noise exposure was revealed to be related to increased serum cortisol levels (1.698%; 95% CI: 0.887%, 2.528%), and sympathetic activity as measured by low frequency/high frequency (3.000%; 95% CI: 1.294%, 4.706%) and blood pressures by cold pressor test (systolic: 5.163%; 95% CI: 2.780%, 7.537%) (diastolic: 3.109%; 95% CI: 1.604%, 4.614%).ConclusionsDaytime occupational noise exposure had sustained effects on nighttime sleep quality, specifically on slow wave sleep and sleep efficiency. These disturbances could be partially explained by post-shift elevated cortisol and ANS activity. The psychosocial and metabolic consequences of poorer sleep quality induced by occupational noise exposure warrant further investigation.     

Prevalence and characteristics of positional sleep apnea in the HypnoLaus population-based cohort

Objective/BackgroundTo determine the prevalence of positional obstructive sleep apnea (POSA) and exclusive POSA (ePOSA) in the general population and to assess the factors independently associated with POSA and ePOSA according to gender and menopausal status.Patients/MethodsParticipants of the population-based HypnoLaus Sleep Cohort underwent full polysomnography at home. POSA was defined as an apnea-hypopnea index (AHI) ≥5/h, and supine/non-supine AHI ratio (sAHI/nsAHI) ≥2 (ePOSA when non-supine AHI was normalized).ResultsIn this study, 1719 subjects (40-85y.o. 46% men) with at least 30 min spent in both the supine and non-supine positions were included. OSA was present in 1224 subjects (71%) (AHI >5/H). POSA was present in 53% of all subjects, and in 75% of OSA subjects. ePOSA was present in 26% of all subjects and in 36% of OSA subjects. In multivariate analyses, lower AHI and lower BMI were both associated with POSA and ePOSA in males. In premenopausal females, no single factor was associated with POSA while a lower AHI and an Epworth sleepiness scale >10 were associated with ePOSA. In postmenopausal women, a lower BMI was associated with POSA and a lower AHI and a lower Mallampati score with ePOSA.ConclusionsIn this large population-based study, we found that POSA is present in 53% of the middle-to-older age general population, and in 75% of OSA subjects. ePOSA was present in 36% of OSA subjects, suggesting that a large proportion of them could be treated with positional therapy. AHI and BMI were differently associated with POSA in men, and pre or post-menopausal women.     

Efficacy of additional psychosocial intervention in reducing low birth weight and preterm birth in teenage pregnancy: A systematic review and meta-analysis

This systematic review aimed to assess the efficacy of psychosocial interventions in reducing risk of low birth weight (LBW) and preterm birth (PTB) in teenage pregnancy. Relevant studies were identified from Medline, Scopus, CINAHL, and CENTRAL databases. Randomized controlled trials investigating effect of psychosocial interventions on risk of LBW and PTB, compared to routine antenatal care (ANC) were eligible. Relative risks (RR) of LBW and PTB were pooled using inverse variance method. Mean differences of birth weight (BW) between intervention and control groups were pooled using unstandardized mean difference (USMD). Five studies were included in the review. Compared with routine ANC, psychosocial interventions significantly reduced risk of LBW by 40% (95%CI: 8%,62%) but not for PTB (pooled RR = 0.67, 95%CI: 0.42,1.05). Mean BW of the intervention group was significantly higher than that of the control group with USMD of 200.63 g (95% CI: 21.02, 380.25). Results of our study suggest that psychosocial interventions significantly reduced risk of LBW in teenage pregnancy.     

Adherence and persistence to ropinirole,pramipexole, and gabapentin in patients with newly diagnosed restless legs syndrome

Study objectivesThe objective of this study is to assess adherence and persistence of ropinirole, pramipexole, and gabapentin; to investigate factors associated with non-adherence and non-persistence in restless legs syndrome (RLS) patients.MethodsWe used the 2008–2014 Marketscan^® Research Databases to conduct a retrospective data analysis. The study included newly diagnosed RLS patients who initiated ropinirole, pramipexole, or gabapentin therapy. During 365 days of follow-up, mean medication possession ratios (MPRs) for adherence and the proportion of adherent users were calculated. The mean persistence (time to discontinuation) and the proportion of persistent users were also assessed during the same follow-up period. Factors associated with non-adherence and non-persistence were analyzed using multivariate logistic regression.ResultsThis study included 5163 ropinirole, 3380 pramipexole, and 1353 gabapentin users. The mean MPRs for ropinirole, pramipexole, and gabapentin were 0.52, 0.52, and 0.48, respectively. The proportions of adherent users were 33.2%, 34.6%, and 27.4%, respectively. Mean time to treatment discontinuation was 158 days, 158 days, and 145 days, respectively. The proportions of persistent users at 365 days were 25.0%, 25.8%, and 20.6%, respectively. Younger age, higher number of concomitant medications, and gabapentin use (vs. ropinirole or pramipexole use) were positively associated with non-adherence and non-persistence. Additionally, retail pharmacy use (vs. mail order pharmacy use) and use of benzodiazepines were positively associated with non-adherence.ConclusionAdherence and persistence to ropinirole, pramipexole, and gabapentin were low in newly diagnosed RLS patients during 365 days of follow-up. Certain patient characteristics were predictors of non-adherence and non-persistence.     

Women with symptoms of sleep-disordered breathing are less likely to be diagnosed and treated for sleep apnea than men

BackgroundWomen are often underrepresented at sleep clinics evaluating sleep-disordered breathing (SDB). The aim of the present study was to analyze gender differences in sleep apnea diagnosis and treatment in men and women with similar symptoms of SDB.MethodsRespiratory Health in Northern Europe (RHINE) provided information about snoring, excessive daytime sleepiness (EDS), BMI and somatic diseases at baseline (1999–2001) and follow-up (2010–2012) from 4962 men and 5892 women. At follow-up participants were asked whether they had a diagnosis of and/or treatment for sleep apnea.ResultsAmong those with symptoms of SDB (snoring and EDS), more men than women had been given the diagnosis of sleep apnea (25% vs. 14%, p < 0.001), any treatment (17% vs. 11%, p = 0.05) and CPAP (6% vs. 3%, p = 0.04) at follow-up.Predictors of receiving treatment were age, BMI, SDB symptoms at baseline and weight gain, while female gender was related to a lower probability of receiving treatment (adj. OR 0.3, 95% CI 0.3–0.5).In both genders, the symptoms of SDB increased the risk of developing hypertension (adj OR, 95% CI: 1.5, 1.2–1.8) and diabetes (1.5, 1.05–2.3), independent of age, BMI, smoking and weight gain.ConclusionsSnoring females with daytime sleepiness may be under-diagnosed and under-treated for sleep apnea compared with males, despite running a similar risk of developing hypertension and diabetes.     

Sleep in children with type 1 diabetes and their parents in the T1D Exchange

ObjectivesSleep has physiological and behavioral impacts on diabetes outcomes, yet little is known about the impact of sleep disturbances in children with type 1 diabetes. The current study sought to characterize sleep in children with type 1 diabetes and in their parents and to examine the associations between child sleep, glycemic control and adherence, parent sleep and well-being, parental fear of hypoglycemia, and nocturnal caregiving behavior.MethodsSurveys were emailed to parents of 2- to 12-year-old participants in the Type 1 Diabetes (T1D) Exchange clinic registry. Clinical data were obtained from the registry for the 515 respondents.ResultsIn our sample, 67% of children met criteria for poor sleep quality. Child sleep quality was related to glycemic control (HbA1c of 7.9% [63 mmol/mol] in children with poor sleep quality vs 7.6% [60 mmol/mol] in children with non-poor sleep quality; P < 0.001) but not mean frequency of blood glucose monitoring (BGM) (7.6 times/day vs 7.4 in poor/non-poor quality; P = 0.56). Associations were similar for sleep duration. Children with poor sleep quality were more likely to experience severe hypoglycemia (4% in children with poor sleep quality vs 1% in children with non-poor sleep quality; P = 0.05) and more likely to experience DKA (7% vs 4%, respectively; P < 0.001). Poorer child sleep quality was associated with poorer parental sleep quality, parental well-being, and fear of hypoglycemia (P < 0.001 for all). Child sleep was not related to the use of diabetes-related technology (CGM, insulin pump).ConclusionsSleep may be a modifiable factor to improve glycemic control and reduce parental distress.