Journal of Huntington's disease最新文献

Huntington's Disease-Related Mortality Patterns: A Two-Decade Analysis of Mortality Trends in the United States, from 1999-2019. 亨廷顿氏病相关死亡率模式：1999-2019年美国死亡率趋势二十年分析》。

IF 2.1

Journal of Huntington's disease Pub Date : 2024-08-30 DOI: 10.3233/JHD-240037

Muhammad Arham Bin Kashif, Samar Mahmood, Tahrim Saqib, Syeda Tahira Waheed, Piresh Kumar, Aima Javaid, Muhammad Asjad Riaz, Urooj Fatima, Zain Ali Nadeem, Shahbaz Ali Nasir, Afrah Hassan

{"title":"Huntington's Disease-Related Mortality Patterns: A Two-Decade Analysis of Mortality Trends in the United States, from 1999-2019.","authors":"Muhammad Arham Bin Kashif, Samar Mahmood, Tahrim Saqib, Syeda Tahira Waheed, Piresh Kumar, Aima Javaid, Muhammad Asjad Riaz, Urooj Fatima, Zain Ali Nadeem, Shahbaz Ali Nasir, Afrah Hassan","doi":"10.3233/JHD-240037","DOIUrl":"https://doi.org/10.3233/JHD-240037","url":null,"abstract":"Background: Huntington's disease (HD) is an autosomal dominant, progressive neurodegenerative disorder debilitating mainly in adults.Objective: This study aimed to assess the trends in HD-related mortality regarding various demographic factors.Methods: Death certificates from the CDC WONDER were studied from 1999 to 2019, for HD-related mortality in adults aged 25 + years. Age-adjusted Mortality Rate (AAMR) per 100,000 persons and Annual Percentage Change (APC) were calculated and stratified by year, age groups, gender, race/ethnicity, state, census region, urbanization, and place of death.Results: Between 1999 to 2019, 22,595 deaths occurred in adults due to HD. The AAMR increased from 0.43 to 0.54 during this period (APC = 0.50; 95% CI: 0.18 to 0.84). Old adults (65-85 + years) had the highest overall AAMR, followed by middle-aged adults (45-64 years) and young adults (25-44 years) (AAMR old: 1.01 vs. AAMR middle-age: 0.68 vs. AAMR young: 0.16). Men had slightly greater overall AAMRs than women (AAMR men: 0.54 vs. AAMR women: 0.48). When stratified by race, non-Hispanic (NH) Whites had significantly higher mortality rates than NH African Americans (AAMR NH White: 0.61 vs. NH African American: 0.35), while the AAMR were lowest in Hispanic/Latino (0.28). The AAMRs also showed variation by region (overall AAMR: Midwest: 0.63, Northeast: 0.47, West: 0.48, South: 0.46), and non-metropolitan areas had higher HD-related AAMR (0.66) than metropolitan areas (0.47).Conclusions: HD-related mortality in US adults has increased since 1999. Reflecting on the variations in trends observed, new strategies are required to optimize the quality of care in long-term care facilities.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142108103","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Magnetic Resonance Imaging to Detect Structural Brain Changes in Huntington's Disease: A Review of Data from Mouse Models. 磁共振成像检测亨廷顿氏病的脑结构变化：小鼠模型数据回顾。

IF 2.1

Journal of Huntington's disease Pub Date : 2024-08-26 DOI: 10.3233/JHD-240045

Jenna Hanrahan, Drew P Locke, Lindsay S Cahill

引用次数: 0

Rasch Measurement Theory (RMT) Analyses of the Huntington's Disease Everyday Functioning (Hi-DEF) to Evaluate Item Fit and Performance. 对亨廷顿氏病日常功能（Hi-DEF）进行拉施测量理论（RMT）分析，以评估项目拟合度和性能。

IF 2.1

Journal of Huntington's disease Pub Date : 2024-08-23 DOI: 10.3233/JHD-240001

Jennifer Petrillo, Ruta Sawant, Emma Elliott, Sophie Cleanthous, Rebecca Rogers, Stefan Cano, Sarah Baradaran, Jason Johannesen

{"title":"Rasch Measurement Theory (RMT) Analyses of the Huntington's Disease Everyday Functioning (Hi-DEF) to Evaluate Item Fit and Performance.","authors":"Jennifer Petrillo, Ruta Sawant, Emma Elliott, Sophie Cleanthous, Rebecca Rogers, Stefan Cano, Sarah Baradaran, Jason Johannesen","doi":"10.3233/JHD-240001","DOIUrl":"https://doi.org/10.3233/JHD-240001","url":null,"abstract":"Background: The Huntington's Disease (HD) Everyday Functioning (Hi-DEF) is a new patient-reported outcome (PRO) instrument designed to measure the impact of cognitive impairment on daily functioning in the early stages of HD.Objective: To assess the measurement properties and finalize item content of the Hi-DEF.Methods: A cross-sectional, observational psychometric validation study was conducted among individuals with early stages of HD at 9 US centers of excellence. Rasch Measurement Theory (RMT) analysis of the initial draft version of the Hi-DEF (47 items) and subscales (i.e., 'Home', 'At work', 'Driving', and 'Communication') was conducted to examine measurement properties including sample-to-scale targeting, suitability of response scale (ordering of response thresholds), scale cohesiveness (item fit), local independence, and person fit.Results: 151 participants (mean age 47 years (SD 12), 59% female) were included. Seven items were removed based on dependency and item fit. The remaining 40-item version of the Hi-DEF demonstrated good measurement properties. Across the four subscales, targeting ranged from 49-70% (72% full scale), reliability ascertained by person separation index ranged from 0.53-0.87 (0.92 full scale), response scales were ordered for 25-100% of items (75% full scale), 0-12% items displayed misfit (2% full scale), and 0-1% (2% full scale) item pairs displayed dependency.Conclusions: Our study supports the psychometric integrity of the Hi-DEF as a reliable and valid new PRO instrument designed to assess the impact of cognitive impairment on daily functioning in the early stages of HD. Future work will evaluate the external validity and utility in clinical trial applications.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142108105","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Coping with Huntington's Disease in Patients and At-Risk Individuals. 患者和高危人群如何应对亨廷顿氏症。

IF 2.1

Journal of Huntington's disease Pub Date : 2024-08-14 DOI: 10.3233/JHD-240027

Abigail L B Snow, Abagail E Ciriegio, Kelly H Watson, Mary G Baumann, Anna C Pfalzer, Spencer Diehl, Kathleen Duncan, Katherine E McDonell, Daniel O Claassen, Bruce E Compas

{"title":"Coping with Huntington's Disease in Patients and At-Risk Individuals.","authors":"Abigail L B Snow, Abagail E Ciriegio, Kelly H Watson, Mary G Baumann, Anna C Pfalzer, Spencer Diehl, Kathleen Duncan, Katherine E McDonell, Daniel O Claassen, Bruce E Compas","doi":"10.3233/JHD-240027","DOIUrl":"https://doi.org/10.3233/JHD-240027","url":null,"abstract":"Background: Huntington's disease (HD) presents patients and individuals at risk for HD with significant levels of stress. However, relatively little research has examined how individuals cope with stress related to the disease or the association of specific coping strategies with psychological symptoms.Objective: This study examined the ways in which HD patients and at-risk individuals cope with HD-related stress using a control-based model of coping and the association of coping strategies with symptoms of depression and anxiety.Methods: HD patients (n = 49) and at-risk individuals (n = 76) completed the Responses to Stress Questionnaire - Huntington's Disease Version to assess coping strategies in response to HD-related stress, as well as standardized measures of depression and anxiety symptoms. Patient health records were accessed to obtain information related to disease characteristics.Results: Patients and at-risk individuals reported using comparable levels of primary control coping, secondary control coping, and disengagement coping strategies. In linear regression analyses, only secondary control coping was significantly associated with lower depression (β= -0.62, p < 0.001) and anxiety (β= -0.59, p < 0.001) symptoms in patients and at-risk individuals (β= -0.55, p < 0.001 and β= -0.50, p < 0.001, respectively).Conclusions: Secondary control coping may be beneficial for both HD patients and at-risk individuals. Future research using the control-based model of coping in longitudinal studies with the HD population is needed, and future interventions could test the effects of cognitive reframing and acceptance as coping strategies for families affected by HD.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141992337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Economic Burden of Huntington's Disease: Analysis from a Brazilian Tertiary Care Perspective. 亨廷顿氏病的经济负担：从巴西三级医疗机构的角度进行分析。

IF 2.1

Journal of Huntington's disease Pub Date : 2024-08-14 DOI: 10.3233/JHD-240025

Andressa da Silva van der Laan, Vanderci Borges, Roberta Arb Saba, Henrique Ballalai Ferraz

{"title":"Economic Burden of Huntington's Disease: Analysis from a Brazilian Tertiary Care Perspective.","authors":"Andressa da Silva van der Laan, Vanderci Borges, Roberta Arb Saba, Henrique Ballalai Ferraz","doi":"10.3233/JHD-240025","DOIUrl":"https://doi.org/10.3233/JHD-240025","url":null,"abstract":"Background: Huntington's disease (HD) exerts significant impacts on individuals and families worldwide. Nevertheless, data on its economic burden in Brazil are scarce, revealing a critical gap in understanding the associated healthcare costs.Objective: This study was conducted at a tertiary neurology outpatient clinic in Brazil with the aim of assessing annual healthcare service utilization and associated costs for HD patients.Methods: We conducted a cross-sectional observational study involving 34 HD patients. A structured questionnaire was applied to collect data on direct medical costs (outpatient services, medications), non-medical direct costs (complementary therapies, mobility aids, home adaptations), and indirect costs (lost productivity, caregiver costs, government benefits) over one year.Results: Significant economic impacts were observed, with average annual direct medical costs of $4686.82 per HD patient. Non-medical direct and indirect costs increased the financial burden, highlighting extensive resource utilization beyond healthcare services. Thirty-three out of 34 HD patients were unemployed or retired, and 16 relied on government benefits, reflecting broader socioeconomic implications. Despite the dataset's limitations, it provides crucial insights into the economic impact of HD on patients and the Brazilian public health system.Conclusions: The findings underscore the urgent need for a more comprehensive evaluation of the costs to inform governmental policies related to HD. Future research is needed to expand the data pool and develop a nuanced understanding of the economic burdens of HD to help formulate effective healthcare strategies for patients.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141992338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Prevalence of Juvenile-Onset and Pediatric Huntington's Disease and Their Availability and Ability to Participate in Trials: A Dutch Population and Enroll-HD Observational Study. 青少年和儿童亨廷顿氏病的发病率及其参与试验的可能性和能力：荷兰人口与Enroll-HD观察研究》。

IF 2.1

Journal of Huntington's disease Pub Date : 2024-08-03 DOI: 10.3233/JHD-240034

Hannah S Bakels, Stephanie Feleus, Mar Rodríguez-Girondo, Monique Losekoot, Emilia K Bijlsma, Raymund A C Roos, Susanne T de Bot

{"title":"Prevalence of Juvenile-Onset and Pediatric Huntington's Disease and Their Availability and Ability to Participate in Trials: A Dutch Population and Enroll-HD Observational Study.","authors":"Hannah S Bakels, Stephanie Feleus, Mar Rodríguez-Girondo, Monique Losekoot, Emilia K Bijlsma, Raymund A C Roos, Susanne T de Bot","doi":"10.3233/JHD-240034","DOIUrl":"https://doi.org/10.3233/JHD-240034","url":null,"abstract":"Background: Juvenile-onset Huntington's disease (JHD) represents 1-5% of Huntington's disease (HD) patients, with onset before the age of 21. Pediatric HD (PHD) relates to a proportion of JHD patients that is still under 18 years of age. So far, both populations have been excluded from interventional trials.Objective: Describe the prevalence and incidence of JHD and PHD in the Netherlands and explore their ability to participate in interventional trials.Methods: The prevalence and incidence of PHD and JHD patients in the Netherlands were analyzed. In addition, we explored proportions of JHD patients diagnosed at pediatric versus adult age, their diagnostic delay, and functional and modelled (CAP100) disease stage in JHD and adult-onset HD patients at diagnosis.Results: The prevalence of JHD and PHD relative to the total manifest HD population in January 2024 was between 0.84-1.25% and 0.09-0.14% respectively. The mean incidence of JHD patients being diagnosed was between 0.85-1.28 per 1000 patient years and of PHD 0.14 per 1.000.000 under-aged person years. 55% of JHD cases received a clinical diagnosis on adult age. At diagnosis, the majority of JHD patients was functionally compromised and adolescent-onset JHD patients were significantly less independent compared to adult-onset HD patients.Conclusions: In the Netherlands, the epidemiology of JHD and PHD is lower than previously suggested. More than half of JHD cases are not eligible for trials in the PHD population. Furthermore, higher functional dependency in JHD patients influences their ability to participate in trials. Lastly, certain UHDRS functional assessments and the CAP100 score do not seem appropriate for this particular group.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141909822","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Promoting Physical Activity in Huntington's Disease: Co-Design of a Care Partner Resource. 促进亨廷顿氏症患者的体育锻炼：共同设计护理伙伴资源。

IF 2.1

Journal of Huntington's disease Pub Date : 2024-07-17 DOI: 10.3233/JHD-240014

Una Jones, Katy Hamana, Monica Busse

{"title":"Promoting Physical Activity in Huntington's Disease: Co-Design of a Care Partner Resource.","authors":"Una Jones, Katy Hamana, Monica Busse","doi":"10.3233/JHD-240014","DOIUrl":"https://doi.org/10.3233/JHD-240014","url":null,"abstract":"Background: Clinical guidelines recommend that people with Huntington's disease (HD) should exercise to maintain/improve fitness and motor function, yet physical activity levels remain low in this group. Promotion of physical activity is often via care partners with little evidence that they are supported in this role.Objective: The aim was to co-design a resource for care partners of people with HD to support promotion of physical activity.Methods: A four-step co-design approach was used to develop a care partner resource. Five care partners took part in an online workshop exploring experiences and the knowledge, support and skills needed by care partners to promote physical activity. A co-design team (n = 7) developed a prototype that was user tested by three people who had attended the workshop. Findings from user testing were used to develop the final resource.Results: An easy to read, image-based prototype was developed that contained tips on planning activity, safety and activity examples. User testing identified the need for grouping of activities suitable for 10, 20, and 30 minutes of available time, information on maintaining and improving activity and re-organization of information to support engagement of activity.Conclusions: A resource for care partners that has been translated into seven languages was developed to promote physical activity. User testing indicated confidence in using the resource and appreciation of the autonomy provided to the person with HD to plan activities. Further work is needed to evaluate the impact of the resource in promotion of physical activity and the impact on care partner burden.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141731277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Protective Proteolysis in Huntington's Disease: Unraveling the Role of Post-Translational Myristoylation of Huntingtin in Autophagy. 亨廷顿氏病的保护性蛋白分解：揭示亨廷顿蛋白翻译后肉豆蔻酰化在自噬中的作用

IF 2.1

Journal of Huntington's disease Pub Date : 2024-07-08 DOI: 10.3233/JHD-240028

Yasmeen Alshehabi, Dale D O Martin

引用次数: 0

Speech Biomarkers in Huntington's Disease: A Longitudinal Follow-Up Study in Premanifest Mutation Carriers. 亨廷顿舞蹈症的语言生物标志物：显性前突变携带者的纵向随访研究

IF 2.1

Journal of Huntington's disease Pub Date : 2024-07-08 DOI: 10.3233/JHD-240021

Carsten Saft, Julia Jessen, Rainer Hoffmann, Carsten Lukas, Sabine Skodda

引用次数: 0

Genetic Interventions for Spinocerebellar Ataxia and Huntington's Disease: A Qualitative Study of the Patient Perspective. 脊髓小脑共济失调症和亨廷顿舞蹈症的基因干预：对患者观点的定性研究。

IF 2.1

Journal of Huntington's disease Pub Date : 2024-06-29 DOI: 10.3233/JHD-240026

Nienke J H van Os, Mayke Oosterloo, Brigitte A B Essers, Janneke P C Grutters, Bart P C van de Warrenburg

{"title":"Genetic Interventions for Spinocerebellar Ataxia and Huntington's Disease: A Qualitative Study of the Patient Perspective.","authors":"Nienke J H van Os, Mayke Oosterloo, Brigitte A B Essers, Janneke P C Grutters, Bart P C van de Warrenburg","doi":"10.3233/JHD-240026","DOIUrl":"https://doi.org/10.3233/JHD-240026","url":null,"abstract":"Background: For various genetic disorders characterized by expanded cytosine-adenine-guanine (CAG) repeats, such as spinocerebellar ataxia (SCA) subtypes and Huntington's disease (HD), genetic interventions are currently being tested in different clinical trial phases. The patient's perspective on such interventions should be included in the further development and implementation of these new treatments.Objective: To obtain insight into the thoughts and perspectives of individuals with SCA and HD on genetic interventions.Methods: In this qualitative study, participants were interviewed using semi-structured interview techniques. Topics discussed were possible risks and benefits, and logistic factors such as timing, location and expertise. Data were analyzed using a generic thematic analysis. Responses were coded into superordinate themes.Results: Ten participants (five with SCA and five with HD) were interviewed. In general, participants seemed to be willing to undergo genetic interventions. Important motives were the lack of alternative disease-modifying treatment options, the hope for slowing down disease progression, and preservation of current quality of life. Before undergoing genetic interventions, participants wished to be further informed. Logistic factors such as mode and frequency of administration, expertise of the healthcare provider, and timing of treatment are of influence in the decision-making process.Conclusions: This study identified assumptions, motives, and topics that require further attention before these new therapies, if proven effective, can be implemented in clinical practice. The results may help in the design of care pathways for genetic interventions for these and other rare genetic movement disorders.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141537923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0