Nocturnal Myoclonus Syndrome

  • 文章类型: News
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  • 文章类型: Journal Article
    睡眠是人类生活中不可或缺的重要组成部分,对整体健康和福祉做出重大贡献,但是全世界有相当多的人经历睡眠障碍。睡眠障碍的诊断很大程度上取决于对睡眠阶段的准确分类。传统上,这种分类是由训练有素的睡眠技术人员手动进行的,他们可以直观地检查多导睡眠图记录。然而,为了减轻这一过程的劳动密集型性质,自动化方法已经开发出来。这些自动化方法旨在简化和促进睡眠阶段分类。这项研究旨在对包含失眠受试者的数据集中的睡眠阶段进行分类,PLM,和睡眠呼吸暂停。该数据集包括来自国家睡眠研究资源(NSRR)的多种族动脉粥样硬化研究(MESA)队列的PSG记录,包括2056个科目。在这些科目中,130人失眠,39患有PLM,156人有睡眠呼吸暂停,其余1731人被列为睡眠良好者。这项研究提出了一种自动计算机技术来对睡眠阶段进行分类,使用基于小波的Hjorth参数开发具有可解释的人工智能(XAI)功能的机器学习模型。已采用最佳的双正交小波滤波器组(BOWFB)从30秒的脑电图(EEG)时期提取子带(SB)。三个脑电图通道,即:Fz_Cz,Cz_Oz,和C4_M1,用于产生最佳结果。然后将从SB提取的Hjorth参数馈送到不同的机器学习算法。为了了解模型,在这项研究中,我们使用SHAP(Shapley加法解释)方法。对于患有上述疾病的受试者,该模型利用了从所有通道导出的特征,并采用了集合袋树(EnBT)分类器。最高精度86.8%,87.3%,85.0%,84.5%,失眠症患者获得83.8%,PLM,apniac,良好的睡眠者和完整的数据集,分别。使用这些技术和数据集,这项研究旨在提高睡眠阶段分类的准确性,提高对失眠等睡眠障碍的认识,PLM,和睡眠呼吸暂停。
    Sleep is an integral and vital component of human life, contributing significantly to overall health and well-being, but a considerable number of people worldwide experience sleep disorders. Sleep disorder diagnosis heavily depends on accurately classifying sleep stages. Traditionally, this classification has been performed manually by trained sleep technologists that visually inspect polysomnography records. However, in order to mitigate the labor-intensive nature of this process, automated approaches have been developed. These automated methods aim to streamline and facilitate sleep stage classification. This study aims to classify sleep stages in a dataset comprising subjects with insomnia, PLM, and sleep apnea. The dataset consists of PSG recordings from the multi-ethnic study of atherosclerosis (MESA) cohort of the national sleep research resource (NSRR), including 2056 subjects. Among these subjects, 130 have insomnia, 39 suffer from PLM, 156 have sleep apnea, and the remaining 1731 are classified as good sleepers. This study proposes an automated computerized technique to classify sleep stages, developing a machine-learning model with explainable artificial intelligence (XAI) capabilities using wavelet-based Hjorth parameters. An optimal biorthogonal wavelet filter bank (BOWFB) has been employed to extract subbands (SBs) from 30 seconds of electroencephalogram (EEG) epochs. Three EEG channels, namely: Fz_Cz, Cz_Oz, and C4_M1, are employed to yield an optimum outcome. The Hjorth parameters extracted from SBs were then fed to different machine learning algorithms. To gain an understanding of the model, in this study, we used SHAP (Shapley Additive explanations) method. For subjects suffering from the aforementioned diseases, the model utilized features derived from all channels and employed an ensembled bagged trees (EnBT) classifier. The highest accuracy of 86.8%, 87.3%, 85.0%, 84.5%, and 83.8% is obtained for the insomniac, PLM, apniac, good sleepers and complete datasets, respectively. Using these techniques and datasets, the study aims to enhance sleep stage classification accuracy and improve understanding of sleep disorders such as insomnia, PLM, and sleep apnea.
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  • 文章类型: Editorial
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  • 文章类型: Journal Article
    目的:在患有神经肌肉疾病(NMD)和脑瘫(CP)的儿童中经常报告睡眠不良,但睡眠中的呼吸障碍通常是临床重点。在患有NMD的成年人中,周期性肢体运动(PLM)的患病率增加,并且可能导致该人群的睡眠障碍。我们评估了患有NMD或CP的儿童中PLM的患病率。
    方法:对1-18岁患有NMD(包括Duchenne型肌营养不良症,强直性肌营养不良,脊髓性肌萎缩)或CP在2004-2022年儿科睡眠中心进行。
    结果:在239名儿童中至少有1例PSG可进行腿部肌电图检查(125NMD,114CP),和105名儿童的2个PSG(73个NMD,32CP)。在最初的PSG,72(30%)为女性,中位年龄为9岁,呼吸紊乱指数为3.5/h(四分位距1.3-9.9/h)。在每个CP和NMD组中,有9.6%的PLM指数(PLMI;>5/h)升高,通过初始PSG量化。总的来说,PLMI从基线(中位数0,最大值33/h)到随访(中位数0,最大值55.8/h;p<0.05)增加。在那些PLMI升高的人中,归因于PLM的觉醒百分比高达25%(中位数7.5%).
    结论:NMD和CP患儿的PLMI升高发生率高于其他临床转诊儿科人群。重要的是不要忽视PLM,因为识别和治疗可能有助于改善睡眠结果。需要进一步的研究来了解PLM特别是在该人群中的病理生理学和后果。
    OBJECTIVE: Poor sleep is frequently reported in children with neuromuscular diseases (NMD) and cerebral palsy (CP) however breathing disorders during sleep are often the clinical focus. Periodic limb movements (PLMs) have an increased prevalence in adults with NMD and may contribute to sleep disturbance in this population. We assessed the prevalence of PLMs in children with NMD or CP.
    METHODS: Retrospective review of polysomnography (PSG) with leg electromyography in children age 1-18 years with NMD (including Duchenne muscular dystrophy, myotonic dystrophy, spinal muscular atrophy) or CP performed at a paediatric sleep centre 2004-2022.
    RESULTS: Leg electromyography was available in at least 1 PSG in 239 children (125 NMD, 114 CP), and in 2 PSGs in 105 children (73 NMD, 32 CP). At initial PSG, 72 (30 %) were female with a median age 9y and respiratory disturbance index 3.5/h (interquartile range 1.3-9.9/h). Elevated PLM index (PLMI; >5/h) occurred in 9.6 % of each of the CP and NMD groups, quantified by initial PSG. Overall, PLMI increased from baseline (median 0, maximum 33/h) to follow-up (median 0, maximum 55.8/h; p < 0.05). In those with an elevated PLMI, arousal percentage attributable to PLMs was up to 25 % (median 7.5 %).
    CONCLUSIONS: Elevated PLMI occurred at a higher prevalence in children with NMD and CP than reported in other clinic-referred paediatric populations. It is important that PLMs are not overlooked as identification and treatment may help improve sleep outcomes. Further research is required to understand the pathophysiology and consequences of PLMs specifically in this population.
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  • 文章类型: Journal Article
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  • 文章类型: Journal Article
    目的:在接受视频多导睡眠描记术(VPSG)的患者中,经常发现过度零散的肌阵挛性(EFM)。我们旨在评估气道正压通气(PAP)治疗与睡眠相关的呼吸障碍对EFM的潜在影响。
    方法:在因斯布鲁克医科大学睡眠实验室接受PAP治疗的100名连续EFM和睡眠相关呼吸障碍患者,神经内科,奥地利,包括在内。每位患者都接受了两晚的VPSG治疗:第一晚没有接受PAP治疗,第二晚接受PAP治疗。使用经过验证的软件自动对碎片肌阵挛症进行评分,并计算了碎片肌阵鸣指数(FMI)和EFM(minNREMEFM)的非快速眼动(NREM)睡眠分钟数。
    结果:在PAP治疗下,与基线相比,minNREM+EFM-60.5(9.5-161.8)显着降低在PAP下37.5(6.3-168.8)分钟,p=0.025。在两个晚上之间没有观察到FMI的显著差异。睡眠变量,睡眠诊断,合并症,药物治疗不影响FMI或minNREM+EFM。
    结论:开始PAP治疗导致minNREM+EFM显著降低,但不是FMI。结果表明,PAP治疗可能会影响FM电位的分布。
    OBJECTIVE: Excessive fragmentary myoclonus (EFM) is a frequent finding in patients undergoing video-polysomnography (VPSG). We aimed to evaluate the potential effect of sleep-related breathing disorder\'s treatment with positive airway pressure (PAP) therapy on EFM.
    METHODS: One hundred consecutive patients with EFM and sleep-related breathing disorder subsequently treated with PAP at the sleep lab of the Medical University of Innsbruck, Department of Neurology, Austria, were included. Each patient underwent two nights of VPSG: the first night without and the second night with PAP therapy. Fragmentary myoclonus was automatically scored with validated software, and fragmentary myoclonus index (FMI) and minutes of non-rapid eye movement (NREM) sleep with EFM (minNREM+EFM) were calculated.
    RESULTS: Under PAP therapy there was a significant decrease in the minNREM+EFM - 60.5 (9.5-161.8) at baseline vs. 37.5 (6.3-168.8) minutes under PAP, p = 0.025. No significant differences were observed for FMI between the two nights. Sleep variables, sleep diagnoses, comorbidities, and medication did not influence FMI or the minNREM+EFM.
    CONCLUSIONS: The initiation of PAP treatment led to a significant reduction of minNREM+EFM, but not of FMI. The results suggest that PAP therapy might influence the distribution of FM potentials.
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  • 文章类型: Journal Article
    在最近对16,694名接受不宁腿综合症(RLS)治疗的人进行的调查中,约25%的患者接受苯二氮卓类药物单独治疗或与其他RLS治疗联合治疗.由于大量的人接受苯二氮卓类药物治疗RLS,我们对苯二氮卓类药物在RLS及其相关疾病中的治疗作用进行了历史概述睡眠中周期性肢体运动(PLMS).我们发现了17篇关于氯硝西泮在RLS中使用的文章,PLMS,或者两者兼而有之,3在三唑仑和PLMS上,1在阿普唑仑和RLS上,1在替马西泮和PLMS上,和1硝西泮和PLMS。从总结的文献中,苯二氮卓类药物的益处顺序为睡眠>RLS>PLMS和唤醒>PLMS。大多数关于氯硝西泮的研究采用0.5-2.0mg的剂量。3或4毫克的剂量会导致嗜睡,嗜睡和困惑.对RLS治疗的流行病学研究表明,使用大多数类型的RLS药物(包括苯二氮卓类药物)与其他RLS疗法联合治疗RLS可降低与RLS相关的未来心血管风险。苯二氮卓类药物的主要作用是通过增强GABA对GABAA受体的作用。神经影像学研究表明,在RLS的各个大脑区域中,GABA发生了积极或消极的改变,而遗传研究表明,RLS的GABA受体发生了改变。这些结果表明,应在RLS中研究具有不同GABA能机制的药物,例如tiagabine(Gabitril)或其他药物,以获得可能的治疗益处。
    苯二氮卓类药物经常用于治疗不宁腿综合征(RLS)和睡眠中的周期性肢体运动。受益顺序是睡眠>RLS>PLMS和唤醒>PLMS。对于氯硝西泮,最经常使用0.5mg-2.0mg/天的剂量。苯二氮卓类药物通过GABA能机制发挥其治疗作用。
    In a recent survey of 16,694 people receiving treatment for Restless Legs Syndrome (RLS), approximately 25% were treated with benzodiazepines either singly or in combination with other RLS treatments. Because of the large number of people receiving benzodiazepines for treatment of RLS, we conducted a historical overview of the therapeutic role of benzodiazepines in RLS and its associated condition Periodic Limb Movements in Sleep (PLMS). We found 17 articles on the use of clonazepam in RLS, PLMS, or both, 3 on triazolam and PLMS, 1 on alprazolam and RLS, 1 on temazepam and PLMS, and 1 on nitrazepam and PLMS. The order of benefit of benzodiazepines from the summarized literature is Sleep>RLS>PLMS and arousals > PLMS. Most of the studies on clonazepam employed dosages of 0.5-2.0 mg. Dosages of 3 or 4 mg caused lethargy, somnolence and confusion. An epidemiological study on the therapy of RLS suggests that treatment of RLS with most types of RLS medications including benzodiazepines in combination with other RLS therapies lowers the future cardiovascular risk associated with RLS. The major effect of benzodiazepines is through potentiation of the effect of GABA on the GABA A receptor. Neuroimaging studies suggest that GABA is altered either positively or negatively in various brain regions in RLS and genetic studies suggest that there are alterations in the GABA receptor in RLS. These results suggest that medications with different GABAergic mechanisms such as tiagabine (Gabitril) or others should be investigated in RLS for their possible therapeutic benefit.
    UNASSIGNED: Benzodiazepines are frequently used as therapy in Restless Legs Syndrome (RLS) and Periodic Limb Movements in Sleep. The order of benefit is Sleep>RLS>PLMS and arousals > PLMS. For clonazepam dosages of 0.5 mg-2.0 mg/day are most frequently employed. Benzodiazepines exert their therapeutic effect through GABA-ergic mechanisms.
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  • 文章类型: Journal Article
    目的:虽然手动评分一直被认为是识别腿部周期性运动(PLM)的黄金标准,这是一个非常耗时和昂贵的过程,在解释上也有可变性。在过去的几十年里,不同的作者观察到自动PSG评分算法和成人手动评分之间相当好的一致性,根据既定标准。我们的目标是将我们的多导睡眠图的自动软件分析与睡眠呼吸障碍儿童的手动分期进行比较。
    方法:我们执行了半自动方法,其中,有经验的技术人员观看了视频记录,并从自动分析中删除了那些与真实候选腿部运动(LM)不对应的运动。
    结果:共研究了131个PSG;应用既定标准,65名儿童被诊断为阻塞性睡眠呼吸暂停,66例出现打鼾,但没有睡眠呼吸暂停。平均年龄为6.7岁(±1.7),25名儿童(19.08%)的PLMI>5/h。不仅PLMI(手动:2.20(0.7,4.1)与自动(6.4(3.85,9.5);p<0.001),但对于在自动和手动评分分析之间评估的几乎所有指标。PLM指数的一致性水平仅为中等(0.63[0.51-0.72]);表明,与成年人发表的文章不同,自动分析在儿童中不准确,我们需要手动或半自动分析。
    结论:看来PLM检测算法可以准确工作,但是,真正需要的是一个真正的LM检测算法。
    OBJECTIVE: Although manual scoring has been classically considered the gold standard to identify periodic leg movements (PLM), it is a very time consuming and expensive process, also subject to variability in interpretation. In the last decades, different authors have observed reasonably good agreement between automated PSG scoring algorithms and manual scoring in adults, according to established criteria. We aim to compare the automatic software analysis of our polysomnogram with the manual staging in children with sleep-disordered breathing.
    METHODS: We performed a semiautomatic method, in which an experienced technician watched the video recording and removed from the automatic analysis those movements that did not correspond to true candidate leg movement (LM).
    RESULTS: A total of 131 PSGs were studied; applying the established criteria, 65 children were diagnosed of obstructive sleep apnea, and 66 presented snoring but with no sleep apnea. The mean age was 6.7 years (±1.7) and twenty-five children (19.08 %) had a PLMI >5/h. Statistical differences were found not only for PLMI (manual: 2.20 (0.7, 4.1) vs automatic (6.4 (3.85,9.5); p < 0.001), but for almost of all indexes assessed between the automatic and the manual scoring analysis. The level of concordance was only moderate for PLM index (0.63 [0.51-0.72]); showing that, unlike the articles published in the adult population, automatic analysis is not accurate in children and, manually or semi-automatically analysis as ours need to be done.
    CONCLUSIONS: It seems that PLM detection algorithm might work accurately but, the real need would be a true LM detection algorithm.
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  • 文章类型: Systematic Review
    本系统综述评估了有关小儿周期性肢体运动障碍(PLMD)的科学文献,遵守PRISMA指南并利用PICOS标准。整个PubMed的搜索,EMBASE,Scopus发表了331篇文章,17个符合纳入标准。诊断标准不断发展,自2003年以来需要多导睡眠图和PLMS指数≥5。此外,PLMD诊断要求临床后果,如失眠,失眠症,和疲劳,排除导致睡眠中断的合并症。儿童患病率较低(0.3%),强调需要进行细致的调查。合并症,特别是与多动症的双向关系,被探索。诊断和理解方面的挑战来自重叠的情况,如睡眠呼吸紊乱,精神药物,和标准不遵守。尽管总体上学习质量良好,弱点包括样本量的合理性和偏见。周期性腿部运动指数敏感性高,但特异性低,强调严格的诊断标准。症状的不同指标需要标准化的方法。PLMD儿童的RLS家族史提示未被探索的方面。治疗,主要补铁,缺乏标准化的评估指标。该综述强调了诊断和治疗的挑战,推荐使用精确技术的无偏见研究。综合研究,量化PLMS并客观评估睡眠参数,对于提高对儿科PLMD的理解至关重要。PROSPERO注册号:CRD42021251406。
    This systematic review evaluates the scientific literature on pediatric periodic limb movement disorder (PLMD), adhering to PRISMA guidelines and utilizing PICOS criteria. The search across PubMed, EMBASE, and Scopus yielded 331 articles, with 17 meeting inclusion criteria. Diagnostic criteria evolved, with polysomnography and PLMS index ≥5 required since 2003. Also, PLMD diagnosis mandates clinical consequences like insomnia, hypersomnia, and fatigue, excluding comorbidities causing sleep disruption. Prevalence in children is low (0.3%), emphasizing the need for meticulous investigation. Comorbidities, particularly the bidirectional relationship with ADHD, were explored. Challenges in diagnosis and understanding arise from overlapping conditions such as sleep disordered breathing, psychotropic medication, and criteria non-adherence. Despite generally good study quality, weaknesses include sample size justification and biases. The periodic leg movement index shows high sensitivity but low specificity, underscoring strict diagnostic criteria adherence. Diverse metrics for symptoms necessitate standardized approaches. Family history of RLS in children with PLMD suggests unexplored aspects. Treatment, mainly iron supplementation, lacks standardized assessment metrics. The review emphasizes diagnostic and treatment challenges, recommending unbiased studies with precise techniques. Comprehensive research, quantifying PLMS and objectively assessing sleep parameters, is crucial for advancing understanding in pediatric PLMD. PROSPERO REGISTRATION NUMBER: CRD42021251406.
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