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F47 The European huntington’s disease network (EHDN) scientific support F47欧洲亨廷顿病网络(EHDN)的科学支持
Pub Date : 2021-09-01 DOI: 10.1136/jnnp-2021-ehdn.90
C. Capper-Loup, M. Orth
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引用次数: 0
F41 The proof-hd phase 3 study: pridopidine’s outcome on function in huntington disease (PROOF) F41 -hd iii期研究:普多哌啶对亨廷顿病功能的影响(PROOF)
Pub Date : 2021-09-01 DOI: 10.1136/jnnp-2021-ehdn.84
R. Reilmann, A. Rosser, S. Kostyk, M. Geva, A. McGarry, Yael Cohen, Noga Gershoni-Emek, M. Mehra, C. Olanow, K. Kieburtz, M. Hayden, A. Feigin
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引用次数: 1
F23 Impulsivity and irritability in huntington’s disease: a common foundation? F23亨廷顿舞蹈病的冲动和易怒:共同的基础?
Pub Date : 2021-09-01 DOI: 10.1136/jnnp-2021-ehdn.66
D. McLauchlan, D. Linden, A. Rosser
Background Impulsive and irritable behaviour have been reported in HD from the earliest clinical descriptions of the condition, and abnormalities on various measures of impulsive behaviour have been demonstrated. However these studies had small sample sizes, and did not account for potential confounding effects in the HD population such as IQ and medication. Furthermore, the links between impulsive and irritable behaviour in HD remain unclear. Aims Determine which cognitive mechanisms contribute to irritable behaviour in HD Determine which aspects of impulsive behaviour are seen in HD Methods/Techniques We recruited HD patients and familial controls from the South Wales HD Service and performed a battery of established and novel cognitive tasks, including questionnaire measures of impulsive behavour and irritability (UPPSP, Barrett Impulsivity Scale, PBAs and Snaith), motor inhibition (stop signal task), delay discounting (Kirby instrument) and cognitive impulsivity (Iowa Gambling task). We also performed tasks of provocation (a previously reported task, and a novel task) to determine the relative contributions of impaired inhibition and excessive response to provocation in mediating irritability in HD. Results We recruited 51 HD patients and 26 controls. We found differences in response to provocation and also impaired motor inhibition on the stop signal task in the HD population, even after correcting for relevant confounders such as IQ, medication, motor impairment and psychiatric comorbidity. However, only the response to provocation was associated with irritability in HD. The tasks of delay discounting, and cognitive impulsivity did not demonstrate any differences between HD patients and controls after controlling for relevant confounders. Conclusions Irritability in HD is mediated by excessive response to provocation rather than the known impairments in motor inhibition. Other aspects of impulsivity to contribute to impulsive behaviour in HD.
从HD最早的临床描述开始,就有关于冲动和易怒行为的报道,并且已经证明了各种冲动行为的异常。然而,这些研究的样本量很小,并且没有考虑到HD人群中潜在的混杂效应,如智商和药物。此外,HD患者冲动和易怒行为之间的联系尚不清楚。方法/技术我们从南威尔士HD服务中心招募了HD患者和家族对照者,并进行了一系列已建立的和新的认知任务,包括冲动行为和易怒的问卷测量(UPPSP, Barrett冲动性量表,PBAs和Snaith),运动抑制(停止信号任务),延迟贴现(Kirby工具)和认知冲动性(Iowa赌博任务)。我们还执行了挑衅任务(先前报道的任务和一个新任务),以确定抑制受损和对挑衅的过度反应在HD中介导易怒的相对贡献。结果我们招募了51例HD患者和26例对照组。我们发现,即使在校正了相关混杂因素(如智商、药物、运动障碍和精神合并症)后,HD人群在对刺激的反应和停止信号任务的运动抑制受损方面存在差异。然而,只有对挑衅的反应与HD患者的易怒有关。在控制了相关混杂因素后,HD患者和对照组在延迟折扣和认知冲动任务上没有表现出任何差异。结论HD患者的易怒是由对刺激的过度反应介导的,而不是由已知的运动抑制损伤介导的。导致HD患者冲动行为的其他方面。
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引用次数: 0
F13 Safety and tolerability of lumbar punctures (LP) procedure in patients with huntington’s disease F13亨廷顿病患者腰椎穿刺(LP)手术的安全性和耐受性
Pub Date : 2021-09-01 DOI: 10.1136/jnnp-2021-ehdn.56
Yara Y. Hassan, Filipe Brogueira Rodrigues, Paul Zeun, L. Byrne, C. Estevez Fraga, R. Tortelli, R. Scahill, E. Wild, S. Tabrizi
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引用次数: 0
F46 The European huntington’s disease network F46欧洲亨廷顿舞蹈病网络
Pub Date : 2021-09-01 DOI: 10.1136/jnnp-2021-ehdn.89
J. Townhill, T. McLean, Jamie Levey, A. Rosser, P. Weydt, M. Orth, C. Capper-Loup, Ehdn Central Coordination
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引用次数: 0
F38 Skill-based dysphagia training as an intervention for individuals with huntington’s disease F38以技能为基础的吞咽困难训练对亨廷顿舞蹈病患者的干预
Pub Date : 2021-09-01 DOI: 10.1136/jnnp-2021-ehdn.81
E. Burnip, Kristin Gozdzikowska, Esther Guiu-Hernandez, Paige Thomas, M. Jury, Katharina Winiker, Maggie-Lee Huckabee
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引用次数: 0
F45 Impact of COVID-19 pandemic in patients with huntington diesease F45新冠肺炎大流行对亨廷顿病患者的影响
Pub Date : 2021-09-01 DOI: 10.1136/jnnp-2021-EHDN.88
Chiara Pane, Cinzia Valeria Russo, Ilaria Celano, Federica Coscetta, Assunta Trinchillo, Giovanna De Michele, Elena Salvatore, Luigi Di Maio, Chiara Colella, Natascia De Lucia, Rosa De Anna, F. Saccà
If Huntington disease (HD) may represent a risk factor for Covid-19 is debated. The aim of our work was to assess the impact of Covid-19 pandemic on HD disease progression, to evaluate patients vulnerability to Covid-19 infection and the incidence of severe manifestations compared to the general population. Methods After obtaining oral informed consent, we conducted a telephone interview directed to patients or care-givers, using an ad hoc developed semi-structured questionnaire. The questionnaire was composed of two sections and is shown in table 1. Section one: telephone interview to HD patients Section two: telephone interview to HD patients who tested positive for COVID19 Results We interviewed a total of 112 HD patients. Since the beginning of the pandemic, 72.3% of patients experienced a progression of the basal clinical condition (figure 1). Thirty-one-percent of patients changed their pre-existing psychiatric therapy or started a new one. Interestingly, 50% described the onset of a new sleep disorder. Analysis of the standards of care showed that 78% of the patients missed their scheduled medical visit and 64.7% stopped physiotherapy. Within the observed cohort 10.8% of patients tested positive for Covid-19 infection, 6 experienced symptoms and 5 of them had comorbidities. Despite resolution of the infection 3 patients underwent a rapid progressive and generalized clinical worsening. Conclusion Our study was among one of the first to investigate the impact of the Covid-19 pandemic on HD patients. Our results shown that most patients experienced a global clinical worsening since the beginning of the pandemic. Despite the more severe confinement measure adopted by HD patients, the incidence, and the morbidity of Covid-19 infection seemed to be higher than the general population (Buder, et al., 2021). Whether HD represents per se a risk factor for COVID-19 is unclear. However, a negative impact of HD on the immune system has been described, and difficulties in swallowing and clearing secretions may have negatively impacted the disease course.
亨廷顿病(HD)是否可能是Covid-19的风险因素仍存在争议。我们的研究目的是评估Covid-19大流行对HD疾病进展的影响,与普通人群相比,评估患者对Covid-19感染的易感性和严重表现的发生率。方法在获得口头知情同意后,我们对患者或护理人员进行电话访谈,使用特别开发的半结构化问卷。问卷由两部分组成,见表1。第一部分:电话采访HD患者第二部分:电话采访新冠肺炎阳性HD患者结果共采访了112例HD患者。自大流行开始以来,72.3%的患者经历了基础临床状况的进展(图1)。31%的患者改变了他们已有的精神治疗或开始了新的治疗。有趣的是,50%的人描述了一种新的睡眠障碍的发作。护理标准分析显示,78%的患者错过了预定的就诊,64.7%的患者停止了物理治疗。在观察的队列中,10.8%的患者Covid-19感染检测呈阳性,6人出现症状,其中5人有合并症。尽管感染得到了缓解,但3例患者出现了快速进展和全身性临床恶化。我们的研究是首批调查Covid-19大流行对HD患者影响的研究之一。我们的结果显示,自大流行开始以来,大多数患者经历了全球临床恶化。尽管HD患者采取了更严格的隔离措施,但其Covid-19感染的发病率和发病率似乎高于一般人群(Buder等,2021)。目前尚不清楚HD本身是否代表COVID-19的风险因素。然而,HD对免疫系统的负面影响已经被描述,吞咽和清除分泌物的困难可能对疾病进程产生负面影响。
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引用次数: 0
F33 Perceptions, motivators and barriers to the acceptance of wearable activity trackers in people with huntington’s disease F33亨廷顿病患者接受可穿戴活动追踪器的认知、激励因素和障碍
Pub Date : 2021-09-01 DOI: 10.1136/jnnp-2021-ehdn.76
P. Morgan-Jones, Annabel Jones, L. Mills, P. Pallmann, C. Drew, A. Arnesen, M. Busse, Fiona Wood
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引用次数: 0
F24 Unsupervised clustering reveals longitudinal psychiatric signatures in HD F24无监督聚类揭示HD的纵向精神病学特征
Pub Date : 2021-09-01 DOI: 10.1136/jnnp-2021-ehdn.67
A. D. Paepe, Alexia Giannoula, F. Sanz, L. Furlong, C. García-Gorro, S. Martínez-Horta, J. Pérez-Pérez, J. Kulisevsky, N. Rodríguez-Dechicha, I. Vaquer, S. Subirà, M. Calopa, Esteban Muñoz, P. Santacruz, Jesús Ruiz-Idiago, C. Mareca, R. D. Diego-Balaguer, E. Càmara
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引用次数: 0
F35 Sleep monitoring in huntington’s disease using fitbit compared to polysomnography F35使用fitbit对亨廷顿氏病患者的睡眠监测与多导睡眠图的比较
Pub Date : 2021-09-01 DOI: 10.1136/jnnp-2021-ehdn.78
E. Doheny, Klavs Renerts, C. Baumann, P. Morgan-Jones, M. Busse, M. Lowery, H. Jung
Background Sleep is affected by Huntington’s disease (HD), and sleep quality is linked to neurodegeneration. Wearable devices, such as Fitbit, use inertial sensors and photoplethysmography to estimate sleep stages during sleep, providing a low-cost solution for home-based sleep monitoring. While Fitbit devices have been validated in healthy individuals against the gold standard, polysomnography (PSG), they have not yet been validated in HD. Aims To establish the accuracy of Fitbit sleep metrics against PSG, and to quantify sleep quality over 7 nights at home. Methods Participants wore a Fitbit Charge 4 during overnight PSG, followed by 7 nights at home. PSG sleep stages were scored by an expert sleep physiologist. Fitbit sleep data were extracted every 30 s. Time in bed (TIB), total sleep time (TST), wake time (TWT), time in REM sleep (REM), stage N3 (Deep) and stages N1 and N2 (Light), sleep onset latency (SOL) and wake after sleep onset (WASO) were examined on each night. Fitbit sensitivity and specificity to each sleep stage was examined. Home sleep metrics were compared to PSG. Results Data for 1 male with early-stage HD (UHDRS motor score 5) are reported. Using PSG, TIB was 474.5 min, TST was 373 min, TWT was 101.5 min, REM was 96 min, Deep was 100 min, Light was 177 min, SOL was 95 min, and WASO was 6.5 min. Compared to PSG, Fitbit overestimated TST by 23 mins, Light by 37.5 min, REM by 11.5 min, WASO by 38.5 min, and underestimated SOL by 67 min, TWT by 28.5 min, Deep by 12.5 min, TIB by 5.5 min. Fitbit sensitivity and specificity to wake was 98% and 54%, REM was 97% and 100%, and Deep sleep was 96% and 74%. PSG TST and sleep stage times were within the range observed at home, but PSG TWT was greater than observed at home. Conclusion Initial results in one participant indicate that Fitbit Charge 4 is suitable to monitor sleep stages in HD, particularly REM. Issues distinguishing wake and light sleep were observed in this case. Data collection is ongoing.
睡眠受亨廷顿氏病(HD)的影响,睡眠质量与神经变性有关。Fitbit等可穿戴设备使用惯性传感器和光电容积脉搏波来估计睡眠阶段,为家庭睡眠监测提供了一种低成本的解决方案。虽然Fitbit设备已经在健康人群中通过黄金标准——多导睡眠描记仪(PSG)进行了验证,但尚未在高清人群中得到验证。目的建立Fitbit睡眠指标与PSG的准确性,并量化在家7晚的睡眠质量。方法:参与者在夜间PSG期间佩戴Fitbit Charge 4,随后在家休息7晚。睡眠生理学专家对睡眠阶段进行了PSG评分。Fitbit睡眠数据每30秒提取一次。每晚检查卧床时间(TIB)、总睡眠时间(TST)、清醒时间(TWT)、快速眼动睡眠时间(REM)、N3阶段(深度)和N1、N2阶段(轻度)、睡眠开始潜伏期(SOL)和睡眠开始后醒来时间(WASO)。检查Fitbit对每个睡眠阶段的敏感性和特异性。将家庭睡眠指标与PSG进行比较。结果报告1例男性早期HD患者(UHDRS运动评分5分)。使用PSG,矿是474.5分钟,结核菌素是373分钟,行波管是101.5分钟,快速眼动是96分钟,深度是100分钟,光为177分钟,索尔是95分钟,和沃是6.5分钟。与PSG相比,Fitbit高估了TST 23分钟,轻了37.5分钟,快速眼动了11.5分钟,WASO了38.5分钟,而低估了索尔67分钟,行了28.5分钟,深12.5分钟,TIB的5.5分钟。Fitbit敏感性和特异性后是98%和54%,快速眼动是97%和100%,深度睡眠是96%和74%。PSG TST和睡眠阶段时间在家中观察到的范围内,但PSG TWT大于家中观察到的。一名参与者的初步结果表明,Fitbit Charge 4适用于监测高清患者的睡眠阶段,特别是快速眼动睡眠。在这种情况下,观察到区分清醒和浅睡眠的问题。数据收集正在进行中。
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F: Clinical studies: case reports, oberservational studies and trials
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