Pub Date : 2021-09-01DOI: 10.1136/jnnp-2021-ehdn.44
S. Tabrizi, S. Schobel, Emily C. Gantman, A. Mansbach, B. Borowsky, P. Konstantinova, T. Mestre, Ariana P. Mullin, Jennifer Panagoulias, K. Romero, C. Ross, Sudhir Sivakumaran, Emily C. Turner, M. Zauderer, J. Long, C. Sampaio
{"title":"F01 Development of the huntington’s disease integrated staging system (HD-ISS)","authors":"S. Tabrizi, S. Schobel, Emily C. Gantman, A. Mansbach, B. Borowsky, P. Konstantinova, T. Mestre, Ariana P. Mullin, Jennifer Panagoulias, K. Romero, C. Ross, Sudhir Sivakumaran, Emily C. Turner, M. Zauderer, J. Long, C. Sampaio","doi":"10.1136/jnnp-2021-ehdn.44","DOIUrl":"https://doi.org/10.1136/jnnp-2021-ehdn.44","url":null,"abstract":"","PeriodicalId":277670,"journal":{"name":"F: Clinical studies: case reports, oberservational studies and trials","volume":"39 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116421267","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}
Pub Date : 2021-09-01DOI: 10.1136/jnnp-2021-ehdn.75
M. Busse, R. Playle, C. Drew, Katie Taiyari, R. Williams-Thomas, L. Muratori, K. Hamana, B. Griffin, M. Kelson, R. Schubert, A. Rosser, L. Quinn
Background Evidence of best practice for long term physical activity Huntington’s disease (HD) is lacking, due in part, to inherent challenges in the delivery and evaluation of such life-style interventions. Aim To investigate the feasibility of a nested randomized controlled trial (RCT) of physical activity into Enroll-HD, an established HD cohort study. Methods We conducted a ‘Trial within a Cohort’ (TWiC) evaluation of an exercise intervention compared to usual activity in individuals with early-mid stage HD. All participants completed their usual Enroll-HD assessments and PACE-HD assessments, which included measures of fitness (predicted maximal oxygen uptake) and self-reported and quantitative measures of physical activity. We explored the use of propensity score weighting to compare the individuals in the intervention arm of the RCT to those in the cohort. Results Of the 274 participants screened, 204 met the inclusion criteria and of those, 54 (26.5%) declined to participate and 34 (16.7%) were not contactable. Recruitment targets were only narrowly missed; 59/60 (98.3%) for the cohort and 57/60 (93.5%) for the RCT. Retention rates at 12 months were ~ 85 in both groups. Percentage (%) data completeness for outcomes measures at baseline ranged from 42.3-100% and at 12 month follow up from 19.2–85.2 %. Imbalances in pretreatment confounders for the cohort and the RCT could not to be addressed via propensity score weighting likely due to small sample sizes. Conclusion A targeted recruitment strategy was instrumental in achieving target recruitment; retention at 12 months was excellent. Pre-specified criteria for minimum dataset data completion (both PACE-HD and linked Enroll-HD datasets) were met. The TWiC design, with linkage to Enroll-HD, is feasible for long-term physical activity evaluation in HD provided sample size requirements can be achieved. *PACE-HD & Enroll-HD site principal investigators Teresa Montojo. Neurology Department, Fundacion Jimenez Diaz, Madrid, Spain. Jesus Miguel Ruiz Idiago. Neuropsychiatry Unit, Hospital Mare de Deu de la Merce, Barcelona, Spain. Department of Psychiatry and Forensic Medicine, Universitat Autonoma de Barcelona, Spain. Julie Hershberg. University of Southern California, Division of Biokinesiology and Physical Therapy. Re+active physical therapy & wellness, Los Angeles, CA, USA. Yvette Bordelon. Department of Neurology, University of California, Los Angeles, CA, USA. Karen Marder, Columbia University Irving Medical Center, New York, NY, USA. Lori Quinn, Teachers College, Columbia University, New York, NY, USA. Ralf Reilmann. George-Huntington-Institute and Institute for Clinical Radiology, University of Munster, Munster, Germany. Kathrin Reetz. University Hospital Aachen, Germany. Bernhard Landwehrmeyer. University Hospital Ulm, Germany.
长期体育活动治疗亨廷顿舞蹈病(HD)的最佳实践缺乏证据，部分原因是这种生活方式干预措施的实施和评估存在固有挑战。目的探讨将体育活动的巢式随机对照试验(RCT)纳入已建立的HD队列研究Enroll-HD的可行性。方法:我们进行了一项“队列试验”(TWiC)，对早期中期HD患者的运动干预与常规活动进行了评估。所有参与者都完成了常规的enrollment - hd评估和PACE-HD评估，其中包括健康测量(预测最大摄氧量)和自我报告和定量的身体活动测量。我们探索了使用倾向评分加权来比较RCT干预组和队列中的个体。结果在筛选的274名受试者中，204名符合纳入标准，其中54名(26.5%)拒绝参与，34名(16.7%)无法联系。招聘目标差强人意;队列为59/60(98.3%)，随机对照试验为57/60(93.5%)。两组患者12个月的保留率均为85。基线时结局测量的数据完整性百分比(%)为42.3-100%，12个月随访时为19.2 - 85.2%。由于样本量小，可能无法通过倾向评分加权来解决队列和RCT预处理混杂因素的不平衡。结论有针对性的招聘策略有助于实现目标招聘;12个月的留存率非常好。满足预先指定的最小数据集数据完成标准(PACE-HD和链接的Enroll-HD数据集)。TWiC设计与Enroll-HD相关联，在满足样本量要求的情况下，对于HD患者的长期体育活动评估是可行的。*PACE-HD和Enroll-HD网站首席研究员Teresa Montojo。西班牙马德里希门尼斯·迪亚兹基金会神经内科。Jesus Miguel Ruiz Idiago。西班牙巴塞罗那Deu de la Merce Mare医院神经精神科。西班牙巴塞罗那自治大学精神病学和法医学系。朱莉Hershberg。南加州大学生物运动学和物理治疗系。积极的物理治疗和健康，洛杉矶，加州，美国。伊薇特Bordelon。美国加州大学洛杉矶分校神经内科。Karen Marder，哥伦比亚大学欧文医学中心，纽约，纽约，美国。洛里·奎因，美国纽约哥伦比亚大学师范学院。拉尔夫Reilmann。明斯特大学乔治-亨廷顿研究所和临床放射学研究所，德国明斯特。凯瑟琳Reetz。德国亚琛大学医院。Bernhard Landwehrmeyer。乌尔姆大学医院，德国。
{"title":"F32 Exploring the feasibility of a novel and efficient trial design for the evaluation of long-term physical activity and exercise outcomes in people with huntington’s disease","authors":"M. Busse, R. Playle, C. Drew, Katie Taiyari, R. Williams-Thomas, L. Muratori, K. Hamana, B. Griffin, M. Kelson, R. Schubert, A. Rosser, L. Quinn","doi":"10.1136/jnnp-2021-ehdn.75","DOIUrl":"https://doi.org/10.1136/jnnp-2021-ehdn.75","url":null,"abstract":"Background Evidence of best practice for long term physical activity Huntington’s disease (HD) is lacking, due in part, to inherent challenges in the delivery and evaluation of such life-style interventions. Aim To investigate the feasibility of a nested randomized controlled trial (RCT) of physical activity into Enroll-HD, an established HD cohort study. Methods We conducted a ‘Trial within a Cohort’ (TWiC) evaluation of an exercise intervention compared to usual activity in individuals with early-mid stage HD. All participants completed their usual Enroll-HD assessments and PACE-HD assessments, which included measures of fitness (predicted maximal oxygen uptake) and self-reported and quantitative measures of physical activity. We explored the use of propensity score weighting to compare the individuals in the intervention arm of the RCT to those in the cohort. Results Of the 274 participants screened, 204 met the inclusion criteria and of those, 54 (26.5%) declined to participate and 34 (16.7%) were not contactable. Recruitment targets were only narrowly missed; 59/60 (98.3%) for the cohort and 57/60 (93.5%) for the RCT. Retention rates at 12 months were ~ 85 in both groups. Percentage (%) data completeness for outcomes measures at baseline ranged from 42.3-100% and at 12 month follow up from 19.2–85.2 %. Imbalances in pretreatment confounders for the cohort and the RCT could not to be addressed via propensity score weighting likely due to small sample sizes. Conclusion A targeted recruitment strategy was instrumental in achieving target recruitment; retention at 12 months was excellent. Pre-specified criteria for minimum dataset data completion (both PACE-HD and linked Enroll-HD datasets) were met. The TWiC design, with linkage to Enroll-HD, is feasible for long-term physical activity evaluation in HD provided sample size requirements can be achieved. *PACE-HD & Enroll-HD site principal investigators Teresa Montojo. Neurology Department, Fundacion Jimenez Diaz, Madrid, Spain. Jesus Miguel Ruiz Idiago. Neuropsychiatry Unit, Hospital Mare de Deu de la Merce, Barcelona, Spain. Department of Psychiatry and Forensic Medicine, Universitat Autonoma de Barcelona, Spain. Julie Hershberg. University of Southern California, Division of Biokinesiology and Physical Therapy. Re+active physical therapy & wellness, Los Angeles, CA, USA. Yvette Bordelon. Department of Neurology, University of California, Los Angeles, CA, USA. Karen Marder, Columbia University Irving Medical Center, New York, NY, USA. Lori Quinn, Teachers College, Columbia University, New York, NY, USA. Ralf Reilmann. George-Huntington-Institute and Institute for Clinical Radiology, University of Munster, Munster, Germany. Kathrin Reetz. University Hospital Aachen, Germany. Bernhard Landwehrmeyer. University Hospital Ulm, Germany.","PeriodicalId":277670,"journal":{"name":"F: Clinical studies: case reports, oberservational studies and trials","volume":"7 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114885102","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}
Pub Date : 2021-09-01DOI: 10.1136/jnnp-2021-ehdn.96
R. Mason, M. Papoutsi, B. Griffin, Catherine Martin, Bonnie Hennig-Trestman, O. Quarrell, L. Byrne
Huntington’s Disease (HD) is a rare inherited neurodegenerative disorder with a typical onset between the ages of 30 - 50. Juvenile onset Huntington’s Disease (JoHD), defined by onset of symptoms before the age of 21, manifests differently from adult-onset HD. JoHD, is thought to be present in approximately 5% of HD cases, although the exact prevalence is unknown. It has not been studied extensively. JOIN-HD is a prospective, observational, multi-national patient registry of individuals (both patients and caregivers) affected by JoHD. The primary objective of the registry is to identify individuals affected by JoHD and to map their locations globally. Secondary objectives include supporting focused research for this population and identifying unmet needs of JoHD families to improve advocacy, care and support. It is anticipated that JOIN-HD will serve as a tool to facilitate recruitment to future research and clinical trials through the identification of potentially eligible participants. Pre-registration for JOIN-HD opened in Q1 2021, and Stage I is due to launch in Q3 2021. Participants will be invited to self-enrol and participate remotely via an electronic data capture portal. Stage I will capture participant demographics and information about the links participants have with the HD community. Two further stages of the registry are planned, with Stage II collecting data on medical history/experience of JoHD and Stage III incorporating a Clinician led interview.
{"title":"F53 Introducing join-HD: the juvenile onset initiative for huntington’s disease","authors":"R. Mason, M. Papoutsi, B. Griffin, Catherine Martin, Bonnie Hennig-Trestman, O. Quarrell, L. Byrne","doi":"10.1136/jnnp-2021-ehdn.96","DOIUrl":"https://doi.org/10.1136/jnnp-2021-ehdn.96","url":null,"abstract":"Huntington’s Disease (HD) is a rare inherited neurodegenerative disorder with a typical onset between the ages of 30 - 50. Juvenile onset Huntington’s Disease (JoHD), defined by onset of symptoms before the age of 21, manifests differently from adult-onset HD. JoHD, is thought to be present in approximately 5% of HD cases, although the exact prevalence is unknown. It has not been studied extensively. JOIN-HD is a prospective, observational, multi-national patient registry of individuals (both patients and caregivers) affected by JoHD. The primary objective of the registry is to identify individuals affected by JoHD and to map their locations globally. Secondary objectives include supporting focused research for this population and identifying unmet needs of JoHD families to improve advocacy, care and support. It is anticipated that JOIN-HD will serve as a tool to facilitate recruitment to future research and clinical trials through the identification of potentially eligible participants. Pre-registration for JOIN-HD opened in Q1 2021, and Stage I is due to launch in Q3 2021. Participants will be invited to self-enrol and participate remotely via an electronic data capture portal. Stage I will capture participant demographics and information about the links participants have with the HD community. Two further stages of the registry are planned, with Stage II collecting data on medical history/experience of JoHD and Stage III incorporating a Clinician led interview.","PeriodicalId":277670,"journal":{"name":"F: Clinical studies: case reports, oberservational studies and trials","volume":"7 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130799836","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}
Pub Date : 2021-09-01DOI: 10.1136/jnnp-2021-ehdn.62
S. Migliore, Giulia D'Aurizio, Sabrina Maffi, E. Scaricamazza, Consuelo Ceccarelli, G. Ristori, S. Romano, M. Fichera, A. Castaldo, G. Curcio, F. Squitieri
{"title":"F19 Cognitive reserve: the leisure time concurs to the cognition performance and to the independence of early huntington disease patients","authors":"S. Migliore, Giulia D'Aurizio, Sabrina Maffi, E. Scaricamazza, Consuelo Ceccarelli, G. Ristori, S. Romano, M. Fichera, A. Castaldo, G. Curcio, F. Squitieri","doi":"10.1136/jnnp-2021-ehdn.62","DOIUrl":"https://doi.org/10.1136/jnnp-2021-ehdn.62","url":null,"abstract":"","PeriodicalId":277670,"journal":{"name":"F: Clinical studies: case reports, oberservational studies and trials","volume":"183 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134089564","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}
Pub Date : 2021-09-01DOI: 10.1136/jnnp-2021-ehdn.53
Matthew Roché, Lindsay Cherneski, O. Handley, Selene Capodarca, S. Frank, R. Fuller, M. Orth, Jamie Levey, E. Neacy, C. Sampaio
Background There is a need for validated assessments for patients with later-stage HD. The LSA study aims to provide preliminary clinimetric properties for two such measures: the HD Structured Interview of Function (HD-SIF) and HD Clinical Status Questionnaire (HDCSQ). Both assessments are administered to a Companion Participant either in-person or remotely, and the properties of these tests will be evaluated using the methods of Classical Test Theory (CTT) and Item Response Theory (IRT). Objectives To obtain estimates for the clinimetric properties of the HD-SIF and HDCSQ. Methods Up to 170 dyads of Manifest HD Gene Expansion Carrier (mHDGEC) Participants and their Companion Participants are planned to be enrolled in this study from approximately 20 English-speaking study sites. The study includes two sequential parts. In Part 1, we will use the methods of CTT to evaluate the HD-SIF, a structured interview designed to gather information for making ratings on the UHDRSTM ‘99 functional scales (TFC, FAS and IS). In Part 2, we will use the methods of CTT and IRT to assess the clinimetric properties of the HDCSQ, a questionnaire designed specifically to capture information on disease milestones that occur during the later stages of HD, and the HD-SIF. In both parts, Companion Participants will complete a Companion Information Form, a short questionnaire asking about the Companion Participant’s perceptions and experiences as a caregiver/companion to the mHDGEC Participant. Status and Outlook A robust suite of training materials have been developed to train and certify HD-SIF and HDCSQ raters. This study is entering into the final phase of start-up with recruitment scheduled to run from 3Q2021 until 2023. Preliminary results from Part 1 will be available during 2022 and a full report will be available later that year. Upon establishing the clinimetric properties of the scales, these assessments may be used for planning studies or incorporated into observational and interventional studies of HD. Including a more advanced patient population will empower them to participate and will promote their valued contribution to research.
{"title":"F10 Development of assessments for later stage huntington’s disease: HD structured interview of function and HD clinical status questionnaire","authors":"Matthew Roché, Lindsay Cherneski, O. Handley, Selene Capodarca, S. Frank, R. Fuller, M. Orth, Jamie Levey, E. Neacy, C. Sampaio","doi":"10.1136/jnnp-2021-ehdn.53","DOIUrl":"https://doi.org/10.1136/jnnp-2021-ehdn.53","url":null,"abstract":"Background There is a need for validated assessments for patients with later-stage HD. The LSA study aims to provide preliminary clinimetric properties for two such measures: the HD Structured Interview of Function (HD-SIF) and HD Clinical Status Questionnaire (HDCSQ). Both assessments are administered to a Companion Participant either in-person or remotely, and the properties of these tests will be evaluated using the methods of Classical Test Theory (CTT) and Item Response Theory (IRT). Objectives To obtain estimates for the clinimetric properties of the HD-SIF and HDCSQ. Methods Up to 170 dyads of Manifest HD Gene Expansion Carrier (mHDGEC) Participants and their Companion Participants are planned to be enrolled in this study from approximately 20 English-speaking study sites. The study includes two sequential parts. In Part 1, we will use the methods of CTT to evaluate the HD-SIF, a structured interview designed to gather information for making ratings on the UHDRSTM ‘99 functional scales (TFC, FAS and IS). In Part 2, we will use the methods of CTT and IRT to assess the clinimetric properties of the HDCSQ, a questionnaire designed specifically to capture information on disease milestones that occur during the later stages of HD, and the HD-SIF. In both parts, Companion Participants will complete a Companion Information Form, a short questionnaire asking about the Companion Participant’s perceptions and experiences as a caregiver/companion to the mHDGEC Participant. Status and Outlook A robust suite of training materials have been developed to train and certify HD-SIF and HDCSQ raters. This study is entering into the final phase of start-up with recruitment scheduled to run from 3Q2021 until 2023. Preliminary results from Part 1 will be available during 2022 and a full report will be available later that year. Upon establishing the clinimetric properties of the scales, these assessments may be used for planning studies or incorporated into observational and interventional studies of HD. Including a more advanced patient population will empower them to participate and will promote their valued contribution to research.","PeriodicalId":277670,"journal":{"name":"F: Clinical studies: case reports, oberservational studies and trials","volume":"94 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122549669","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}
Pub Date : 2021-09-01DOI: 10.1136/jnnp-2021-ehdn.93
{"title":"F50 Enroll-HD platform support for industry and academic sponsors","authors":"","doi":"10.1136/jnnp-2021-ehdn.93","DOIUrl":"https://doi.org/10.1136/jnnp-2021-ehdn.93","url":null,"abstract":"","PeriodicalId":277670,"journal":{"name":"F: Clinical studies: case reports, oberservational studies and trials","volume":"7 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125472476","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}
Pub Date : 2021-09-01DOI: 10.1136/jnnp-2021-ehdn.70
D. Khasanova, Z. Zalyalova
We represent a case report of clinical manifestation in patient with intermediate allele length of Htt gene. The patient M., 47 years old, suffered from low mood, tremor in hands, awkwardness, tearfulness and apathy from 2018. The patient’s working status – medical nurse. She didn’t have any familial history of HD, although her father died in 50 years old because of undetermined reason. In neurological status the patient had slight saccade velocity slowing, high latency in the speed of saccade initiation, Luria test – less than 4 repeats without hints, slight intentional and kinetic tremor, difficulty in tandem walking (2 deviations from the line). While walking the patient had some kind of dystonic pattern in neck with elevation of the right shoulder girdle. No choreic movements were found. She underwent genetic testing because of eye movement abnormalities that revealed 34 CAG-repeats. The patient’s UHDRS score was 11. M. underwent MOCA (26), SDMT (39 correct ), test for the speed of determining categories/animals (15 words), TMT A (66 ss), B (100 ss), test for the speed of determining letters for L (16 words), A (9 words) and S (13 words), Stroop test for reading (98 words), naming (80 words), interferention (40 words). According PBA-S the main psycho-emotional problems were depression (severity score – 3, frequency – 4), anxiety (2/2), apathy (3/3), obsessive-compulsive disorders (2/3). Functionally the patient was healthy. Comorbidities: keratoconus, astigmatism. After the treatment with sertraline 50 mg, she felt substantial relief with Beck’s depression scale score – 15. According modern data, in European ancestry populations, one in 5,372 individuals from the general population have intermediate allele expansion which result in the disease range during intergenerational transmission. This patient was recommended to follow-up and have a genetic counselling for the family with further decision about the treatment and prognosis.
{"title":"F27 Clinical presentations in patient with 34 CAG-repeats (case report)","authors":"D. Khasanova, Z. Zalyalova","doi":"10.1136/jnnp-2021-ehdn.70","DOIUrl":"https://doi.org/10.1136/jnnp-2021-ehdn.70","url":null,"abstract":"We represent a case report of clinical manifestation in patient with intermediate allele length of Htt gene. The patient M., 47 years old, suffered from low mood, tremor in hands, awkwardness, tearfulness and apathy from 2018. The patient’s working status – medical nurse. She didn’t have any familial history of HD, although her father died in 50 years old because of undetermined reason. In neurological status the patient had slight saccade velocity slowing, high latency in the speed of saccade initiation, Luria test – less than 4 repeats without hints, slight intentional and kinetic tremor, difficulty in tandem walking (2 deviations from the line). While walking the patient had some kind of dystonic pattern in neck with elevation of the right shoulder girdle. No choreic movements were found. She underwent genetic testing because of eye movement abnormalities that revealed 34 CAG-repeats. The patient’s UHDRS score was 11. M. underwent MOCA (26), SDMT (39 correct ), test for the speed of determining categories/animals (15 words), TMT A (66 ss), B (100 ss), test for the speed of determining letters for L (16 words), A (9 words) and S (13 words), Stroop test for reading (98 words), naming (80 words), interferention (40 words). According PBA-S the main psycho-emotional problems were depression (severity score – 3, frequency – 4), anxiety (2/2), apathy (3/3), obsessive-compulsive disorders (2/3). Functionally the patient was healthy. Comorbidities: keratoconus, astigmatism. After the treatment with sertraline 50 mg, she felt substantial relief with Beck’s depression scale score – 15. According modern data, in European ancestry populations, one in 5,372 individuals from the general population have intermediate allele expansion which result in the disease range during intergenerational transmission. This patient was recommended to follow-up and have a genetic counselling for the family with further decision about the treatment and prognosis.","PeriodicalId":277670,"journal":{"name":"F: Clinical studies: case reports, oberservational studies and trials","volume":"170 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133656589","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}
Pub Date : 2021-09-01DOI: 10.1136/jnnp-2021-ehdn.59
A. Fisher, Anna Lavis, H. Rickards, S. Greenfield
Aim Using ethnography to explore social functioning in HD Method In 2016 Stout et al called for researchers studying cognition in HD to incorporate methods which captured the ‘messiness’ of real life. This is a call reflected by researchers in other fields who note particularly that social cognition needs this lens too. In HD research there is an empirical gap in our knowledge of social cognition in the everyday lives of people with HD and if we are to understand what this looks like, we need to ‘be’ with people with HD and their companions. As a methodology arising from anthropology in which the researcher is embedded over time in the space of the community being studied, listening to what is being said and observing what is being done; ethnography can provide this. It’s been used extensively in fields where the gaps afforded by more quantitative approaches need ‘thicker’ description and has proven complementary but most of all insightful. Outcome An altered project to reflect the limitations of the pandemic will begin in the next year which will use ethnography with people with HD and their companions to explore social functioning in everyday life – to look at the breadth of potential concerns but also barriers and facilitators of these important skills.
2016 年，Stout 等人呼吁研究 HD 认知的研究人员采用能够捕捉现实生活 "混乱 "的方法。其他领域的研究人员也反映了这一呼吁，他们特别指出社会认知也需要这一视角。在 HD 研究中，我们对 HD 患者日常生活中的社会认知存在着经验上的空白，如果我们要了解这种认知是什么样子，我们就需要与 HD 患者及其同伴 "在一起"。人种学是人类学的一种研究方法，研究者长期置身于被研究社区的空间中，倾听他们所说的话，观察他们所做的事；人种学可以提供这样的机会。它被广泛应用于需要 "更深入 "描述的领域，这些领域需要更多的定量方法来填补空白，而人种学被证明是一种补充方法，但最重要的是它具有深刻的洞察力。成果 明年将启动一个反映该大流行病局限性的改建项目，该项目将使用人种学方法与 HD 患者及其同伴一起探讨日常生活中的社会功能--研究这些重要技能的潜在关注点、障碍和促进因素的广度。
{"title":"F16 Ethnography and social cognition","authors":"A. Fisher, Anna Lavis, H. Rickards, S. Greenfield","doi":"10.1136/jnnp-2021-ehdn.59","DOIUrl":"https://doi.org/10.1136/jnnp-2021-ehdn.59","url":null,"abstract":"Aim Using ethnography to explore social functioning in HD Method In 2016 Stout et al called for researchers studying cognition in HD to incorporate methods which captured the ‘messiness’ of real life. This is a call reflected by researchers in other fields who note particularly that social cognition needs this lens too. In HD research there is an empirical gap in our knowledge of social cognition in the everyday lives of people with HD and if we are to understand what this looks like, we need to ‘be’ with people with HD and their companions. As a methodology arising from anthropology in which the researcher is embedded over time in the space of the community being studied, listening to what is being said and observing what is being done; ethnography can provide this. It’s been used extensively in fields where the gaps afforded by more quantitative approaches need ‘thicker’ description and has proven complementary but most of all insightful. Outcome An altered project to reflect the limitations of the pandemic will begin in the next year which will use ethnography with people with HD and their companions to explore social functioning in everyday life – to look at the breadth of potential concerns but also barriers and facilitators of these important skills.","PeriodicalId":277670,"journal":{"name":"F: Clinical studies: case reports, oberservational studies and trials","volume":"44 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128025291","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}
Pub Date : 2021-09-01DOI: 10.1136/jnnp-2021-ehdn.68
Xiao-Yan Li, Zhi-Ying Wu
Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease involving motor, cognitive and psychiatric disturbances. HD patients with psychosis symptoms usually have bad prognosis. Exploring clinical, imaging and biological features of psychosis in patients with HD is of importance. A total of 118 Han Chinese patients with HD confirmed by Huntingtin genetic testing were recruited during 2013 to 2020. They were assessed by Unified Huntington’s Disease Rating Scale (UHDRS) and followed up in an average of 34 months by telephone. Psychosis was determined by the presence of delusions or hallucinations using UHDRS-Problem Behavior Assessment. Data of magnetic resonance imaging (n=28), serum neurofilament light chain (NfL, n=15) and Positive and Negative Syndrome Scale (PANSS, n=7) were collected in some patients. Of 118 patients (mean age 46.0 years, SD 12.0; female 53.5%), frequency of psychosis was 14.4% (n=17) in the cross-sectional analysis and 17.8% (n=21) in the longitudinal observation. Probands with psychosis were predominantly female (82.3%). They exhibited worse motor, cognitive, behavioral and functional performances compared with patients without psychosis. Furthermore, patients with psychosis had larger lateral ventricles compared with those without psychosis (p=0.0013). In addition, PANSS score showed negative correlations with caudate, putamen volumes (r=-0.85, p=0.014; r=-0.89, p=0.006), positive correlations with lateral ventricle volumes (r=0.60, p=0.010), but no association with NfL concentration. In summary, patients with psychosis had distinct clinical, imaging and biological features. These features might help clinicians to identify psychosis in HD patients early and provide protective interventions for bad outcomes caused by psychosis.
{"title":"F25 The clinical, imaging and biological features of psychosis in Han Chinese patients with huntington’s disease","authors":"Xiao-Yan Li, Zhi-Ying Wu","doi":"10.1136/jnnp-2021-ehdn.68","DOIUrl":"https://doi.org/10.1136/jnnp-2021-ehdn.68","url":null,"abstract":"Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease involving motor, cognitive and psychiatric disturbances. HD patients with psychosis symptoms usually have bad prognosis. Exploring clinical, imaging and biological features of psychosis in patients with HD is of importance. A total of 118 Han Chinese patients with HD confirmed by Huntingtin genetic testing were recruited during 2013 to 2020. They were assessed by Unified Huntington’s Disease Rating Scale (UHDRS) and followed up in an average of 34 months by telephone. Psychosis was determined by the presence of delusions or hallucinations using UHDRS-Problem Behavior Assessment. Data of magnetic resonance imaging (n=28), serum neurofilament light chain (NfL, n=15) and Positive and Negative Syndrome Scale (PANSS, n=7) were collected in some patients. Of 118 patients (mean age 46.0 years, SD 12.0; female 53.5%), frequency of psychosis was 14.4% (n=17) in the cross-sectional analysis and 17.8% (n=21) in the longitudinal observation. Probands with psychosis were predominantly female (82.3%). They exhibited worse motor, cognitive, behavioral and functional performances compared with patients without psychosis. Furthermore, patients with psychosis had larger lateral ventricles compared with those without psychosis (p=0.0013). In addition, PANSS score showed negative correlations with caudate, putamen volumes (r=-0.85, p=0.014; r=-0.89, p=0.006), positive correlations with lateral ventricle volumes (r=0.60, p=0.010), but no association with NfL concentration. In summary, patients with psychosis had distinct clinical, imaging and biological features. These features might help clinicians to identify psychosis in HD patients early and provide protective interventions for bad outcomes caused by psychosis.","PeriodicalId":277670,"journal":{"name":"F: Clinical studies: case reports, oberservational studies and trials","volume":"79 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128150638","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}
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