Pub Date : 2021-09-01DOI: 10.1136/jnnp-2021-ehdn.64
Rebecca K. Hendel, M. N. Hellem, L. Hjermind, J. Nielsen, A. Vogel
Background Apathy can be considered a deficit in goal-directed behaviour. Impairments of social cognition and dysfunction in more classical processes of goal-directed behaviour may constitute the basis of apathy in Huntington’s Disease. Aims To investigate if deficits of executive functions and social cognition were associated with apathy in a large cohort of Huntington’s Disease gene expansion carriers. Methods Eighty premanifest and motor-manifest Huntington’s Disease gene expansion carriers (Mini-Mental State Examination score ≥ 24 and Montreal Cognitive Assessment score ≥ 19) and thirty-two controls were examined with the Lille Apathy Rating Scale, a tailored and quantitative measure of apathy, and a comprehensive cognitive battery on executive functions and social cognition (emotion recognition, theory of mind, and sarcasm detection), as well as general correlates like demographic variables, and neuropsychiatric and cognitive screening tests. Results The motor-manifest participants had significantly higher apathy scores, compared to premanifest and control participants (p = .009, p = .001 respectively). Apathy was significantly correlated with most executive test scores (all p Conclusions Despite being significantly correlated with apathy, cognitive variables did not have a significant impact on apathy, when depression and motor function were accounted for. Apathy should be considered an independent symptom of Huntington’s Disease, that requires specific examination.
冷漠可以被认为是目标导向行为的缺陷。社会认知障碍和更经典的目标导向行为过程的功能障碍可能构成亨廷顿病冷漠的基础。目的探讨亨廷顿氏病基因扩增携带者的执行功能和社会认知缺陷是否与冷漠相关。方法对80例亨廷顿病前显和运动显基因扩增携带者(Mini-Mental State Examination评分≥24分，Montreal Cognitive Assessment评分≥19分)和32例对照者进行冷漠度量化、执行功能和社会认知(情绪识别、心理理论和讽刺检测)综合认知测试。以及一般的相关因素，如人口变量，神经精神和认知筛查测试。结果运动表现组的冷漠得分显著高于前表现组和对照组(p = 0.009, p = 0.001)。结论:尽管认知变量与冷漠显著相关，但当考虑抑郁和运动功能时，认知变量对冷漠没有显著影响。冷漠应该被认为是亨廷顿舞蹈病的一个独立症状，需要专门的检查。
{"title":"F21 On the association between apathy and deficits of social cognition and executive functions in huntington’s disease","authors":"Rebecca K. Hendel, M. N. Hellem, L. Hjermind, J. Nielsen, A. Vogel","doi":"10.1136/jnnp-2021-ehdn.64","DOIUrl":"https://doi.org/10.1136/jnnp-2021-ehdn.64","url":null,"abstract":"Background Apathy can be considered a deficit in goal-directed behaviour. Impairments of social cognition and dysfunction in more classical processes of goal-directed behaviour may constitute the basis of apathy in Huntington’s Disease. Aims To investigate if deficits of executive functions and social cognition were associated with apathy in a large cohort of Huntington’s Disease gene expansion carriers. Methods Eighty premanifest and motor-manifest Huntington’s Disease gene expansion carriers (Mini-Mental State Examination score ≥ 24 and Montreal Cognitive Assessment score ≥ 19) and thirty-two controls were examined with the Lille Apathy Rating Scale, a tailored and quantitative measure of apathy, and a comprehensive cognitive battery on executive functions and social cognition (emotion recognition, theory of mind, and sarcasm detection), as well as general correlates like demographic variables, and neuropsychiatric and cognitive screening tests. Results The motor-manifest participants had significantly higher apathy scores, compared to premanifest and control participants (p = .009, p = .001 respectively). Apathy was significantly correlated with most executive test scores (all p Conclusions Despite being significantly correlated with apathy, cognitive variables did not have a significant impact on apathy, when depression and motor function were accounted for. Apathy should be considered an independent symptom of Huntington’s Disease, that requires specific examination.","PeriodicalId":277670,"journal":{"name":"F: Clinical studies: case reports, oberservational studies and trials","volume":"28 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":"121564954","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.79
J. Rivadeneyra-Posadas, E. Cubo, C. Collazo, Lucía Simón, M. Soto-Célix, Alejandro Rodríguez, J. Raya-González, Daniel Castillo, B. Landwehrmeyer, A. Mühlbäck, Vitória S. Fahed, E. Doheny, Laura Mills, M. Busse, M. Lowery
{"title":"F36 DXA, BIA, anthropometry and skin folds methodology in body composition","authors":"J. Rivadeneyra-Posadas, E. Cubo, C. Collazo, Lucía Simón, M. Soto-Célix, Alejandro Rodríguez, J. Raya-González, Daniel Castillo, B. Landwehrmeyer, A. Mühlbäck, Vitória S. Fahed, E. Doheny, Laura Mills, M. Busse, M. Lowery","doi":"10.1136/jnnp-2021-ehdn.79","DOIUrl":"https://doi.org/10.1136/jnnp-2021-ehdn.79","url":null,"abstract":"","PeriodicalId":277670,"journal":{"name":"F: Clinical studies: case reports, oberservational studies and trials","volume":"210 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":"133315722","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.46
Maitrei Kohli, D. Pustina, John H. Warner, R. Scahill, S. Tabrizi, Daniel C. Alexander, P. Wijeratne
{"title":"F03 Fine-grained prediction of huntington’s disease progression using a stacked ensemble approach","authors":"Maitrei Kohli, D. Pustina, John H. Warner, R. Scahill, S. Tabrizi, Daniel C. Alexander, P. Wijeratne","doi":"10.1136/jnnp-2021-ehdn.46","DOIUrl":"https://doi.org/10.1136/jnnp-2021-ehdn.46","url":null,"abstract":"","PeriodicalId":277670,"journal":{"name":"F: Clinical studies: case reports, oberservational studies and trials","volume":"82 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":"134278895","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.54
Laura Armas Junco, María Fernández-Hawrylak
Background Huntington’s disease (HD) is a hereditary neurodegenerative disorder of the central nervous system. It is transmitted from parents to children, producing emotional and structural changes in family life. It is categorized as a minority disease because of its low global prevalence. The positive or negative results of the genetic analysis suppose an impact on family dynamics, with the grandparents-grandchildren relationship being one of the subsystems affected by the risk or the reality of suffering the disease. Aims The double objective of the research presented in this study is: (1) To obtain an in-depth understanding of the emotional process of coping with being at risk of having HD or being symptomatic of the disease, as well as its effect on the relationship between grandparents and grandchildren, and (2) To explore the impact on grandparents of the risk or diagnosis of HD in their grandchildren. Methods/Techniques Five grandparents and five grandchildren belonging to four families affected by HD participated in this study. A qualitative case study methodology was used. Interviews and genograms were used as data collection instruments. Results In the results obtained, avoidance of open conversation about the presence of HD is observed. Conclusions In conclusion, greater knowledge is needed about the specific coping strategies employed when faced with HD in the grandparents-grandchildren subsystem.
{"title":"F11 Impact on the grandparents-grandchildren relationship in huntington’s disease","authors":"Laura Armas Junco, María Fernández-Hawrylak","doi":"10.1136/jnnp-2021-ehdn.54","DOIUrl":"https://doi.org/10.1136/jnnp-2021-ehdn.54","url":null,"abstract":"Background Huntington’s disease (HD) is a hereditary neurodegenerative disorder of the central nervous system. It is transmitted from parents to children, producing emotional and structural changes in family life. It is categorized as a minority disease because of its low global prevalence. The positive or negative results of the genetic analysis suppose an impact on family dynamics, with the grandparents-grandchildren relationship being one of the subsystems affected by the risk or the reality of suffering the disease. Aims The double objective of the research presented in this study is: (1) To obtain an in-depth understanding of the emotional process of coping with being at risk of having HD or being symptomatic of the disease, as well as its effect on the relationship between grandparents and grandchildren, and (2) To explore the impact on grandparents of the risk or diagnosis of HD in their grandchildren. Methods/Techniques Five grandparents and five grandchildren belonging to four families affected by HD participated in this study. A qualitative case study methodology was used. Interviews and genograms were used as data collection instruments. Results In the results obtained, avoidance of open conversation about the presence of HD is observed. Conclusions In conclusion, greater knowledge is needed about the specific coping strategies employed when faced with HD in the grandparents-grandchildren subsystem.","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":"124793714","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.71
K. Peikert, B. Schlotter‐Weigel, F. Montagnese, P. Reilich, C. Saft, F. Marxreiter, Z. Kohl, S. Evers, W. Kalckreuth, C. Buhmann, B. Mayer, Ernst Walther, Armin Orth, M. Hoenig, K. Nedeltchev, W. Löscher, H. Jung, M. Mattle-Greminger, B. Frey, A. Hermann, A. Danek
Background McLeod syndrome (MLS) is an ultra-rare neurodegenerative X-linked disease caused by mutations in the XK gene, classified as one of the core neuroacanthocytosis syndromes. Together with the clinically very similar chorea-acanthocytosis it belongs to the heterogeneous group of ‘Huntington’s disease (HD) phenocopies’. Aims To characterize a cohort of HD phenocopies with the genetically confirmed diagnosis of McLeod syndrome. Methods This is a retrospective and prospective analysis of genotype and phenotype of sixteen McLeod cases. Results We longitudinally characterized the second largest cohort known to date. We identified novel XK mutations as well as deletions that extend into the PRRG1 gene (novel) and describe two contiguous gene deletion cases of MLS with X-linked chronic granulomatous disease (deletion also effecting the CYBB gene). This study confirms core features of MLS such as late onset hyperkinetic movements in association with neuro/myopathy, neuropsychiatric impairment, cardiac involvement, hyperCKemia. Novel aspects in this MLS series seem obstructive sleep apnea and epileptic seizure onset in childhood. Conclusions Our study expands the limited knowledge on the variable course, the various clinical manifestations and the genetic spectrum of a hereditary HD phenocopy syndrome.
{"title":"F28 Novel mutations and findings in a cohort of McLeod neuroacanthocytosis, an X-linked HD phenocopy","authors":"K. Peikert, B. Schlotter‐Weigel, F. Montagnese, P. Reilich, C. Saft, F. Marxreiter, Z. Kohl, S. Evers, W. Kalckreuth, C. Buhmann, B. Mayer, Ernst Walther, Armin Orth, M. Hoenig, K. Nedeltchev, W. Löscher, H. Jung, M. Mattle-Greminger, B. Frey, A. Hermann, A. Danek","doi":"10.1136/jnnp-2021-ehdn.71","DOIUrl":"https://doi.org/10.1136/jnnp-2021-ehdn.71","url":null,"abstract":"Background McLeod syndrome (MLS) is an ultra-rare neurodegenerative X-linked disease caused by mutations in the XK gene, classified as one of the core neuroacanthocytosis syndromes. Together with the clinically very similar chorea-acanthocytosis it belongs to the heterogeneous group of ‘Huntington’s disease (HD) phenocopies’. Aims To characterize a cohort of HD phenocopies with the genetically confirmed diagnosis of McLeod syndrome. Methods This is a retrospective and prospective analysis of genotype and phenotype of sixteen McLeod cases. Results We longitudinally characterized the second largest cohort known to date. We identified novel XK mutations as well as deletions that extend into the PRRG1 gene (novel) and describe two contiguous gene deletion cases of MLS with X-linked chronic granulomatous disease (deletion also effecting the CYBB gene). This study confirms core features of MLS such as late onset hyperkinetic movements in association with neuro/myopathy, neuropsychiatric impairment, cardiac involvement, hyperCKemia. Novel aspects in this MLS series seem obstructive sleep apnea and epileptic seizure onset in childhood. Conclusions Our study expands the limited knowledge on the variable course, the various clinical manifestations and the genetic spectrum of a hereditary HD phenocopy syndrome.","PeriodicalId":277670,"journal":{"name":"F: Clinical studies: case reports, oberservational studies and trials","volume":"11 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":"124190728","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.60
A. Fisher, Anna Lavis, H. Rickards, Sheila Greenfield
{"title":"F17 An ethnographic protocol for exploring social function during a pandemic","authors":"A. Fisher, Anna Lavis, H. Rickards, Sheila Greenfield","doi":"10.1136/jnnp-2021-ehdn.60","DOIUrl":"https://doi.org/10.1136/jnnp-2021-ehdn.60","url":null,"abstract":"","PeriodicalId":277670,"journal":{"name":"F: Clinical studies: case reports, oberservational studies and trials","volume":"56 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":"122495495","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.72
P. Morgan-Jones, C. Drew, Laura Mills, N. Kirby, P. Pallmann, A. Arnesen, E. Cubo, B. Griffin, H. Jung, B. Landwehrmeyer, M. Lowery, G. Witkowski, M. Busse
Background The course of Huntington’s disease (HD) is believed to be modulated by lifestyle and genetic factors. However, we do not understand how the interplay of these affects disease progression. An efficient method of measuring lifestyle factors involves the use of digital monitoring devices, but their long-term use in clinical HD populations has not yet been explored. Aim Investigate the use of digital technologies in a longitudinal observational study to inform our understanding of the contribution of multi-domain lifestyle and genetic factors in the progression of HD. Methods We plan to recruit 300-450 people with early to mid-stage HD to a 12-month observational study measuring aspects of physical activity, nutrition and sleep. Participants with existing genome wide association study (GWAS) data will be preferentially recruited. Assessment of dietary, sleep and physical activity habits will be performed at baseline and 12-month follow-up Clinical measures will be obtained from the corresponding annual Enroll-HD assessment (within 8 weeks of the DOMINO-HD assessment). Each participant will wear a Fitbit for the duration of the study. Lifestyle, genetic and clinical data will be linked and propensity score weighting methodology will be applied to examine the causal effect of the multi-domain lifestyle and genetic measures on HD progression. Results The start of recruitment was delayed by 10 months due to Covid-19. As of 1st July 2021, we have recruited 36 participants across 5 clinical sites, with recruitment planned to continue until March 2022. Conclusion Successful collection of longitudinal lifestyle data, combined with functional clinical measures and genetic factors will allow, for the first time, the investigation of causal relationships between environmental and genetic modifiers with HD progression. We can then use the information generated to design lifestyle interventions aimed at improving quality of life and prognosis in HD.
{"title":"F29 DOMINO-HD: A 12-month observational cohort study of lifestyle factors in people with huntington’s disease","authors":"P. Morgan-Jones, C. Drew, Laura Mills, N. Kirby, P. Pallmann, A. Arnesen, E. Cubo, B. Griffin, H. Jung, B. Landwehrmeyer, M. Lowery, G. Witkowski, M. Busse","doi":"10.1136/jnnp-2021-EHDN.72","DOIUrl":"https://doi.org/10.1136/jnnp-2021-EHDN.72","url":null,"abstract":"Background The course of Huntington’s disease (HD) is believed to be modulated by lifestyle and genetic factors. However, we do not understand how the interplay of these affects disease progression. An efficient method of measuring lifestyle factors involves the use of digital monitoring devices, but their long-term use in clinical HD populations has not yet been explored. Aim Investigate the use of digital technologies in a longitudinal observational study to inform our understanding of the contribution of multi-domain lifestyle and genetic factors in the progression of HD. Methods We plan to recruit 300-450 people with early to mid-stage HD to a 12-month observational study measuring aspects of physical activity, nutrition and sleep. Participants with existing genome wide association study (GWAS) data will be preferentially recruited. Assessment of dietary, sleep and physical activity habits will be performed at baseline and 12-month follow-up Clinical measures will be obtained from the corresponding annual Enroll-HD assessment (within 8 weeks of the DOMINO-HD assessment). Each participant will wear a Fitbit for the duration of the study. Lifestyle, genetic and clinical data will be linked and propensity score weighting methodology will be applied to examine the causal effect of the multi-domain lifestyle and genetic measures on HD progression. Results The start of recruitment was delayed by 10 months due to Covid-19. As of 1st July 2021, we have recruited 36 participants across 5 clinical sites, with recruitment planned to continue until March 2022. Conclusion Successful collection of longitudinal lifestyle data, combined with functional clinical measures and genetic factors will allow, for the first time, the investigation of causal relationships between environmental and genetic modifiers with HD progression. We can then use the information generated to design lifestyle interventions aimed at improving quality of life and prognosis in HD.","PeriodicalId":277670,"journal":{"name":"F: Clinical studies: case reports, oberservational studies and trials","volume":"47 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":"121954811","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.85
M. Geva, A. McGarry, Noga Gershoni Emek, M. Mehra, C. Olanow, K. Kieburtz, M. R. Hayden
{"title":"F42 Exposure response analysis (PKPD) predicts optimal exposure of pridopidine for clinical efficacy of functional capacity","authors":"M. Geva, A. McGarry, Noga Gershoni Emek, M. Mehra, C. Olanow, K. Kieburtz, M. R. Hayden","doi":"10.1136/jnnp-2021-ehdn.85","DOIUrl":"https://doi.org/10.1136/jnnp-2021-ehdn.85","url":null,"abstract":"","PeriodicalId":277670,"journal":{"name":"F: Clinical studies: case reports, oberservational studies and trials","volume":"87 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":"123026351","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.50
R. Willock, S. Frank, T. Mestre, A. Arnesen, A. Fisher, H. Hubberstey, C. Stanley, M. Winkelmann, Idaira Rodríguez, L. Ruiz, R. Dolmetsch, Nanxin Li, S. Ratsch, T. Ali
Background Huntington’s Disease (HD) is a rare, inherited, and complex neuro-degenerative disorder, affecting cognition, movement, and mood. There is a lack of up-to-date real-world evidence documenting the overall burden of HD by disease stage and from a multinational perspective. This study provides an overview of demographic characteristics and HD-related health resource use (HRU) of European participants of the HDBOI study. Methods The HDBOI is a retrospective, cross-sectional dataset that captures sociodemographic, clinical variables and HRU of a cohort of HD patients which is reported by the treating physician. Patients and caregivers reported information on health-related quality of life, non-medical and indirect costs associated with HD by means of two optional questionnaires. European countries included in the study were Germany, Spain, Italy, France and UK. Statistical significance of differences by disease stage were assessed by ANOVA tests. Results The HDBOI European sample was comprised of 1,602 HD patients, of which 40% were early stage (ES), 34% mid stage (MS) and 26% advanced stage (AS). Approximately 59% of the patients were male and the mean age was 47.5 years (SD± 13.7). A total of 445 patients and 465 caregivers completed their optional questionnaires. Regarding HRU, the average number of annual visits to the treating physician increased with disease severity (p Conclusion The HDBOI study provides novel data to quantify HD health resource use by disease stage, increasing the evidence base for the HD community.
{"title":"F07 Demographic characteristics and health resource use of the european participants from the huntington’s disease burden of illness study (HDBOI)","authors":"R. Willock, S. Frank, T. Mestre, A. Arnesen, A. Fisher, H. Hubberstey, C. Stanley, M. Winkelmann, Idaira Rodríguez, L. Ruiz, R. Dolmetsch, Nanxin Li, S. Ratsch, T. Ali","doi":"10.1136/jnnp-2021-ehdn.50","DOIUrl":"https://doi.org/10.1136/jnnp-2021-ehdn.50","url":null,"abstract":"Background Huntington’s Disease (HD) is a rare, inherited, and complex neuro-degenerative disorder, affecting cognition, movement, and mood. There is a lack of up-to-date real-world evidence documenting the overall burden of HD by disease stage and from a multinational perspective. This study provides an overview of demographic characteristics and HD-related health resource use (HRU) of European participants of the HDBOI study. Methods The HDBOI is a retrospective, cross-sectional dataset that captures sociodemographic, clinical variables and HRU of a cohort of HD patients which is reported by the treating physician. Patients and caregivers reported information on health-related quality of life, non-medical and indirect costs associated with HD by means of two optional questionnaires. European countries included in the study were Germany, Spain, Italy, France and UK. Statistical significance of differences by disease stage were assessed by ANOVA tests. Results The HDBOI European sample was comprised of 1,602 HD patients, of which 40% were early stage (ES), 34% mid stage (MS) and 26% advanced stage (AS). Approximately 59% of the patients were male and the mean age was 47.5 years (SD± 13.7). A total of 445 patients and 465 caregivers completed their optional questionnaires. Regarding HRU, the average number of annual visits to the treating physician increased with disease severity (p Conclusion The HDBOI study provides novel data to quantify HD health resource use by disease stage, increasing the evidence base for the HD community.","PeriodicalId":277670,"journal":{"name":"F: Clinical studies: case reports, oberservational studies and trials","volume":"25 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":"125996335","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.65
Emily Hare, D. McLauchlan, A. Rosser
Background Apathy is a core symptom of Huntington’s Disease (HD), appearing up to 10 years before the onset of motor symptoms and worsening alongside disease progression. Research into the disease needs greater focus on this symptom, but to date, limited tools exist for measuring apathy in HD. Aims This study aimed to evaluate the longitudinal validity and sensitivity of two novel computer tasks that were designed to measure apathy in HD, to assess their potential for future use in clinical trials. Method A total of 83 individuals with HD and 54 controls underwent extensive testing on a battery of existing and novel tasks that measured a range of deficits in HD. Included in this battery were the two novel tasks, the Persistence task and the Maze task, as well as the current gold-standard measures: the Problem Behaviours Assessment Scale of apathy (PBA-apathy) and the Composite Unified Huntington’s Disease Rating scale (cUHDRS). Participants were tested on the entire battery at baseline and at 12-month follow up. Results Both the Maze and Persistence tasks were able to distinguish gene positive participants from controls, but only the Maze task was found to be sensitive to change between baseline and follow up. Moreover, it appeared to be more sensitive than the cUHDRS, which did not show significant change over 12 months in this population. However, the Maze task did not show association with PBA-apathy scores, suggesting it does not measure core elements of apathy as defined by the PBA. The Persistence task was associated with PBA-apathy at baseline, but this association did not persist to follow up, suggesting that the task lacks longitudinal validity. Conclusion This study highlights the potential utility of objective computer tasks in HD research, reducing the field’s reliance on subjective self-report measures. Excitingly the findings also suggest that the Maze task could become a new objective measure of disease progression, superior to existing tools.
{"title":"F22 Novel measures of apathy in huntington’s disease: cross-sectional and longitudinal analysis","authors":"Emily Hare, D. McLauchlan, A. Rosser","doi":"10.1136/jnnp-2021-ehdn.65","DOIUrl":"https://doi.org/10.1136/jnnp-2021-ehdn.65","url":null,"abstract":"Background Apathy is a core symptom of Huntington’s Disease (HD), appearing up to 10 years before the onset of motor symptoms and worsening alongside disease progression. Research into the disease needs greater focus on this symptom, but to date, limited tools exist for measuring apathy in HD. Aims This study aimed to evaluate the longitudinal validity and sensitivity of two novel computer tasks that were designed to measure apathy in HD, to assess their potential for future use in clinical trials. Method A total of 83 individuals with HD and 54 controls underwent extensive testing on a battery of existing and novel tasks that measured a range of deficits in HD. Included in this battery were the two novel tasks, the Persistence task and the Maze task, as well as the current gold-standard measures: the Problem Behaviours Assessment Scale of apathy (PBA-apathy) and the Composite Unified Huntington’s Disease Rating scale (cUHDRS). Participants were tested on the entire battery at baseline and at 12-month follow up. Results Both the Maze and Persistence tasks were able to distinguish gene positive participants from controls, but only the Maze task was found to be sensitive to change between baseline and follow up. Moreover, it appeared to be more sensitive than the cUHDRS, which did not show significant change over 12 months in this population. However, the Maze task did not show association with PBA-apathy scores, suggesting it does not measure core elements of apathy as defined by the PBA. The Persistence task was associated with PBA-apathy at baseline, but this association did not persist to follow up, suggesting that the task lacks longitudinal validity. Conclusion This study highlights the potential utility of objective computer tasks in HD research, reducing the field’s reliance on subjective self-report measures. Excitingly the findings also suggest that the Maze task could become a new objective measure of disease progression, superior to existing tools.","PeriodicalId":277670,"journal":{"name":"F: Clinical studies: case reports, oberservational studies and trials","volume":"50 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":"134195702","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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