Journal of Huntington's disease最新文献_第8页

Upcoming Meetings Related to Huntington's Disease. 即将召开的与亨廷顿舞蹈病相关的会议。

IF 3.1

Journal of Huntington's disease Pub Date : 2022-12-05 DOI: 10.3233/JHD-229008

引用次数: 0

Abstracts of the 29th Annual Meeting of the Huntington Study Group, November 3-5, 2022, Tampa, Florida. 亨廷顿研究小组第29届年会摘要，2022年11月3日至5日，佛罗里达州坦帕市。

IF 3.1

Journal of Huntington's disease Pub Date : 2022-10-31 DOI: 10.3233/jhd-229005

引用次数: 0

Upcoming Meetings Related to Huntington's Disease. 即将召开的与亨廷顿舞蹈病相关的会议。

IF 3.1

Journal of Huntington's disease Pub Date : 2022-08-23 DOI: 10.3233/jhd-229004

引用次数: 0

The Lived Experiences of Depression in Huntington's Disease: A Qualitative Study. 亨廷顿氏病患者抑郁的生活经历:一项定性研究。

IF 3.1

Journal of Huntington's disease Pub Date : 2022-05-13 DOI: 10.3233/jhd-220537

H. Bilal, Narelle Warren, Pinithi Dahanayake, W. Kelso, Farrand Sarah, J. Stout

{"title":"The Lived Experiences of Depression in Huntington's Disease: A Qualitative Study.","authors":"H. Bilal, Narelle Warren, Pinithi Dahanayake, W. Kelso, Farrand Sarah, J. Stout","doi":"10.3233/jhd-220537","DOIUrl":"https://doi.org/10.3233/jhd-220537","url":null,"abstract":"BACKGROUND\u0000Depression is a common neuropsychiatric syndrome in Huntington's disease (HD) and has debilitating consequences, including poorer sleep, exacerbation of cognitive and functional decline, and suicidality. To date, no published studies have documented the lived experience of depression in HD, despite clinical evidence that depression may be experienced differently in HD compared to the general population.\u0000\u0000\u0000OBJECTIVE\u0000The aim of this study was to investigate the lived experiences of depression in people with the CAG expansion for HD using qualitative methods.\u0000\u0000\u0000METHODS\u0000We conducted semi-structured interviews with HD CAG expansion carriers who had current or previous experiences of depression, until data saturation was achieved. This resulted in interviews from 17 HD CAG expansion carriers (11 premanifest, 6 manifest) which were analyzed using thematic analysis.\u0000\u0000\u0000RESULTS\u0000The four key themes that emerged related to the temporal characteristics of depression in HD, the qualitative changes associated with depression, psychosocial stressors perceived to contribute to depression, and the perception of depression as an endogenous feature of HD.\u0000\u0000\u0000CONCLUSION\u0000This study provides an enriched understanding of the unique characteristics of depression in HD, and the attributions that CAG expansion carriers make for their depression symptoms. The themes identified in this study can be used to guide more targeted assessment and treatment of depression in HD.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2022-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46960123","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: 2

Huntington's disease clinical trials corner: April 2022. 亨廷顿舞蹈症临床试验角：2022年4月。

IF 3.1

Journal of Huntington's disease Pub Date : 2022-05-09 DOI: 10.3233/jhd-229002

C. Estévez-Fraga, F. B. Rodrigues, S. Tabrizi, E. Wild

引用次数: 10

Searching for Answers: Information-Seeking by Young People At-Risk for Huntington’s Disease 寻找答案:有亨廷顿舞蹈病风险的年轻人寻求信息

IF 3.1

Journal of Huntington's disease Pub Date : 2022-05-07 DOI: 10.3233/JHD-210523

Colby L. Chase, B. Yashar, Chandler Swope, R. Albin, W. Uhlmann

{"title":"Searching for Answers: Information-Seeking by Young People At-Risk for Huntington’s Disease","authors":"Colby L. Chase, B. Yashar, Chandler Swope, R. Albin, W. Uhlmann","doi":"10.3233/JHD-210523","DOIUrl":"https://doi.org/10.3233/JHD-210523","url":null,"abstract":"Background: Health information-seeking is a coping strategy used globally by individuals with a personal or family history of a medical condition, including Huntington’s disease (HD). Objective: We sought to ascertain information-seeking practices of young people who grew up at-risk for HD. Methods: Participants ages 18–25 were recruited from HD support organizations. An online 96-item survey assessed information-seeking motivations and timing as well as information topics accessed, sources, and needs. Results: Fifty young adults (mean age 22.2 years) who grew up at-risk for HD responded. HD had been generally kept a secret (35.4%) or talked about but difficult to bring up (43.8%) in many families. Most (78.0%) became aware of HD in their family before age 15. Few (7.1%) received information resources at the time of disclosure. Most (68.1%) first sought information independently online, half within a week of disclosure. Respondents were motivated to understand the potential impact of HD on their personal lives and family members, obtain general information about the condition, and learn about treatments and research. Most sought information on clinical features and inheritance with > 80% interested in information on symptoms and personal risk and > 70% about having children. Conclusion: Limited information is provided to young people when first informed about HD in their families leading to independent, mostly online information-seeking. Information is used to build knowledge about HD to facilitate coping and life planning. Healthcare providers can direct young people to reliable resources and guide parents in talking with children to ensure that information needs are met.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":"11 1","pages":"337 - 346"},"PeriodicalIF":3.1,"publicationDate":"2022-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41834803","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

Nursing Approaches and Perceived Quality of Life in Advanced Stage Huntington's Disease Patients. 晚期亨廷顿舞蹈病患者的护理方法与感知生活质量。

IF 3.1

Journal of Huntington's disease Pub Date : 2022-05-07 DOI: 10.3233/jhd-210481

J. Engels, E. van Duijn

{"title":"Nursing Approaches and Perceived Quality of Life in Advanced Stage Huntington's Disease Patients.","authors":"J. Engels, E. van Duijn","doi":"10.3233/jhd-210481","DOIUrl":"https://doi.org/10.3233/jhd-210481","url":null,"abstract":"BACKGROUND\u0000Long-term Huntington's disease (HD) care is offered in specialized inpatient nursing home units with a focus on individually perceived quality of life (QoL). This is shaped in daily care and interaction, which is often abstract and intangible. Furthermore, different perspectives are involved and may vary.\u0000\u0000\u0000OBJECTIVE\u0000To explore and describe perceived QoL of HD patients from three perspectives: manifest HD patients, family members, and nursing staff.\u0000\u0000\u0000METHODS\u000036 patients, 11 family members, and 30 nurses participated in this qualitative study by means of individual interviews and systematic qualitative observations on three units.\u0000\u0000\u0000RESULTS\u0000Preservation of identity and autonomy is important for patients. Patients struggle with increasing dependence, and try to cope with the impact, uncertainty, and progressive nature of the disease. All participants emphasize the focus on \"being human, not just a patient\". Both patients and family members mention the difficulty of dealing with altered behavior and loss of control. Patients are reliant on a relational approach, and an attitude of unconditional acceptance, trust, and understanding support by the nurses. Nursing staff help patients to focus on preserved abilities, and to continue to engage in personalized preferred social activities. Specific qualifications of the nurses were of major influence on QoL for HD patients.\u0000\u0000\u0000CONCLUSION\u0000This study shows, from the patient as well as family member and nursing staff perspectives, that caring for HD patients requires specific knowledge and skills. Particular nursing approaches and attitude and qualifications of the nursing staff in residential HD care improves the perceived QoL of patients.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2022-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44086734","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: 1

The Huntington's Disease Health Index: Initial Evaluation of a Disease-Specific Patient Reported Outcome Measure. 亨廷顿舞蹈症健康指数：对特定疾病患者报告结果的初步评估。

IF 3.1

Journal of Huntington's disease Pub Date : 2022-05-02 DOI: 10.3233/JHD-210506

Olivia S. Brumfield, Christine Zizzi, N. Dilek, Danae Alexandrou, Alistair Glidden, S. Rosero, Jennifer S. Weinstein, J. Seabury, A. Kaat, Michael P McDermott, E. Dorsey, C. Heatwole

{"title":"The Huntington's Disease Health Index: Initial Evaluation of a Disease-Specific Patient Reported Outcome Measure.","authors":"Olivia S. Brumfield, Christine Zizzi, N. Dilek, Danae Alexandrou, Alistair Glidden, S. Rosero, Jennifer S. Weinstein, J. Seabury, A. Kaat, Michael P McDermott, E. Dorsey, C. Heatwole","doi":"10.3233/JHD-210506","DOIUrl":"https://doi.org/10.3233/JHD-210506","url":null,"abstract":"BACKGROUND\u0000When developed properly, disease-specific patient reported outcome measures have the potential to measure relevant changes in how a patient feels and functions in the context of a therapeutic trial. The Huntington's Disease Health Index (HD-HI) is a multifaceted disease-specific patient reported outcome measure (PROM) designed specifically to satisfy previously published FDA guidance for developing PROMs for product development and labeling claims.\u0000\u0000\u0000OBJECTIVE\u0000In preparation for clinical trials, we examine the validity, reliability, clinical relevance, and patient understanding of the Huntington's Disease Health Index (HD-HI).\u0000\u0000\u0000METHODS\u0000We partnered with 389 people with Huntington's disease (HD) and caregivers to identify the most relevant questions for the HD-HI. We subsequently utilized two rounds of factor analysis, cognitive interviews with fifteen individuals with HD, and test-retest reliability assessments with 25 individuals with HD to refine, evaluate, and optimize the HD-HI. Lastly, we determined the capability of the HD-HI to differentiate between groups of HD participants with high versus low total functional capacity score, prodromal versus manifest HD, and normal ambulation versus mobility impairment.\u0000\u0000\u0000RESULTS\u0000HD participants identified 13 relevant and unique symptomatic domains to be included as subscales in the HD-HI. All HD-HI subscales had a high level of internal consistency and reliability and were found by participants to have acceptable content, relevance, and usability. The total HD-HI score and each subscale score statistically differentiated between groups of HD participants with high versus low disease burden.\u0000\u0000\u0000CONCLUSION\u0000Initial evaluation of the HD-HI supports its validity and reliability as a PROM for assessing how individuals with HD feel and function.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2022-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45952447","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: 2

Huntington's Disease Regulatory Science Consortium: Accelerating Medical Product Development. 亨廷顿氏病监管科学联盟:加速医疗产品开发。

IF 3.1

Journal of Huntington's disease Pub Date : 2022-04-20 DOI: 10.3233/jhd-220533

Emily C. Turner, Emily C. Gantman, C. Sampaio, Sudhir Sivakumaran

引用次数: 1

Standardizing the CAP Score in Huntington's Disease by Predicting Age-at-Onset. 通过预测发病年龄来标准化亨廷顿病的CAP评分。

IF 3.1

Journal of Huntington's disease Pub Date : 2022-04-19 DOI: 10.3233/jhd-210475

John H. Warner, J. Long, J. Mills, D. Langbehn, Jennifer J. Ware, A. Mohan, C. Sampaio

{"title":"Standardizing the CAP Score in Huntington's Disease by Predicting Age-at-Onset.","authors":"John H. Warner, J. Long, J. Mills, D. Langbehn, Jennifer J. Ware, A. Mohan, C. Sampaio","doi":"10.3233/jhd-210475","DOIUrl":"https://doi.org/10.3233/jhd-210475","url":null,"abstract":"BACKGROUND\u0000Huntington's disease (HD) is an autosomal dominant, neurological disease caused by an expanded CAG repeat near the N-terminus of the huntingtin (HTT) gene. A leading theory concerning the etiology of HD is that both onset and progression are driven by cumulative exposure to the effects of mutant (or CAG expanded) huntingtin (mHTT). The CAG-Age-Product (CAP) score (i.e., the product of excess CAG length and age) is a commonly used measure of this cumulative exposure. CAP score has been widely used as a predictor of a variety of disease state variables in HD. The utility of the CAP score has been somewhat diminished, however, by a lack of agreement on its precise definition. The most commonly used forms of the CAP score are highly correlated so that, for purposes of prediction, it makes little difference which is used. However, reported values of CAP scores, based on commonly used definitions, differ substantially in magnitude when applied to the same data. This complicates the process of inter-study comparison.\u0000\u0000\u0000OBJECTIVE\u0000In this paper, we propose a standardized definition for the CAP score which will resolve this difficulty. Our standardization is chosen so that CAP = 100 at the expected age of diagnosis.\u0000\u0000\u0000METHODS\u0000Statistical methods include novel survival analysis methodology applied to the 13 disease landmarks taken from the Enroll-HD database (PDS 5) and comparisons with the existing, gold standard, onset model.\u0000\u0000\u0000RESULTS\u0000Useful by-products of our work include up-to-date, age-at-onset (AO) results and a refined AO model suitable for use in other contexts, a discussion of several useful properties of the CAP score that have not previously been noted in the literature and the introduction of the concept of a toxicity onset model.\u0000\u0000\u0000CONCLUSION\u0000We suggest that taking L = 30 and K = 6.49 provides a useful standardization of the CAP score, suitable for use in the routine modeling of clinical data in HD.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2022-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44764005","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: 8