Journal of Neurology, Neurosurgery & Psychiatry最新文献

{"title":"J05 Legato-hd study: a phase 2 study assessing the efficacy and safety of laquinimod as a treatment for huntington disease","authors":"R. Reilmann, M. Gordon, K. Anderson, A. Feigin, S. Tabrizi, B. Leavitt, J. Stout, P. Piccini, Gail Rynkowski, Rita Volkinshtein, J. Savola","doi":"10.1136/jnnp-2018-ehdn.265","DOIUrl":"https://doi.org/10.1136/jnnp-2018-ehdn.265","url":null,"abstract":"Introduction Laquinimod (Teva Pharmaceuticals) is an orally active small molecule that passively enters the blood brain barrier and has been shown to upregulate BDNF secretion and modulate CNS-resident inflammatory pathways involved in pathology of HD. The LEGATO-HD study originally included three dose arms, 0.5 mg, 1.0 mg and 1.5 mg versus placebo in a 12-month multicenter double blind phase 2 study in patients with HD. Cardiovascular safety concerns were observed in multiple sclerosis studies with laquinimod doses of 1.2 mg and 1.5 mg. Although no similar concern was identified in LEGATO-HD, Teva discontinued the 1.5 mg arm in January 2016 as a precautionary safety measure and continued to evaluate the efficacy and safety of the 0.5 mg and 1.0 mg doses. Aims Evaluate the efficacy and safety of laquinimod in patients with Huntington Disease (HD). Methods Efficacy assessments include the primary endpoint, change from baseline in Unified Huntington’s Disease Rating Scale Total Motor Score (UHDRS-TMS) at month 12, and the secondary endpoint, percent change in caudate volume at month 12. Safety measures include adverse event reporting, clinical laboratory tests, vital signs, ECGs, physical examinations, and suicidality (C-SSRS). Results LEGATO-HD is fully enrolled with 352 patients randomized and is expected to complete in June 2018. Baseline mean (SD) pooled demographics of enrolled patients include females n=172 (49.1%), males n=178 (50.9%), age 44.4(7.6) years, UHDRS-TMS 24.3(13.1), UHDRS-Total Functional Capacity (TFC) 11.1(1.7), and UHDRS-Functional Assessment (FA) 22.7(2.4). The results of the primary and secondary efficacy endpoints and safety measures will be presented at the conference. Conclusion There is a significant unmet medical need to ameliorate the progression of symptoms and the neurodegeneration in HD. LEGATO-HD provides valuable information towards understanding the efficacy and safety of laquinimod as a potential treatment for patients with HD. The LEGATO-HD Study is sponsored by Teva Pharmaceuticals Ltd in collaboration with HSG and EHDN and is registered as NCT02215616-clinicaltrials.gov and 2014–000418–75-EudraCT.","PeriodicalId":16509,"journal":{"name":"Journal of Neurology, Neurosurgery & Psychiatry","volume":"31 1","pages":"A99 - A99"},"PeriodicalIF":0.0,"publicationDate":"2018-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79986647","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}

{"title":"A09 Stage- and cell-specific changes of nucleolar activity and integrity are associated with the progression of huntington’s disease","authors":"Aynur Sönmez, K. Kojer, R. Mustafa, S. Spieth, Christian Litke, J. Koch, T. Hering, B. Liss, M. Orth, R. Parlato","doi":"10.1136/jnnp-2018-EHDN.9","DOIUrl":"https://doi.org/10.1136/jnnp-2018-EHDN.9","url":null,"abstract":"Background Transcriptional and metabolic dysregulation are known to occur in Huntington’s disease (HD). Mutant huntingtin (mHTT) protein affects several cellular functions hindering the identification of the primary pathogenic event. Impaired transcription of ribosomal DNA (rDNA) genes in the nucleolus – a major non-membrane bound sub-nuclear compartment – represents an emerging mechanism underlying progressive neurodegeneration Aims To identify a sensitive transcriptional and metabolic marker associated with mHTT and disease progression, we tested the hypothesis that changes in rDNA transcription in the nucleolus are early signs of transcriptional dysregulation by mHTT in HD models and human tissue biopsies. Methods/techniques We analyzed by real-time quantitative PCR, RNA in situ hybridization, and immunofluorescence the activity and integrity of the nucleolus in the striatum and skeletal muscle of zQ175 knock-in mice at various ages as well as of patient tissue biopsies at early neuropathological stages. Results/outcome Here, we show that rDNA transcription and distribution of the nucleolar chaperone protein nucleophosmin (NPM1) are differentially altered in brain and muscle tissues from HD mouse models and in muscle biopsies from HD patients. Conclusions Our results indicate that mHTT nuclear inclusions interfere with nucleolar function in a stage- and cell-specific fashion by altering NPM1 in striatal cells. Moreover these studies demonstrate that NPM1 in muscle cells constitutes a molecular signature of the initial stages of HD. These findings could help to provide novel tools to test the functional efficacy of ongoing therapeutic strategies aiming at lowering mHTT levels in specific cells. Funding This work was supported by EHDN seed-fund project 0753, DFG PA 1529/2–1, CEMMA Graduate School","PeriodicalId":16509,"journal":{"name":"Journal of Neurology, Neurosurgery & Psychiatry","volume":"04 1","pages":"A4 - A4"},"PeriodicalIF":0.0,"publicationDate":"2018-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89714832","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}

{"title":"A31 The development of translational biomarkers of neuroinflammation in a mouse model of huntington’s disease","authors":"Laura Riggall, B. Siow, X. Golay, G. Bates","doi":"10.1136/jnnp-2018-EHDN.29","DOIUrl":"https://doi.org/10.1136/jnnp-2018-EHDN.29","url":null,"abstract":"Background Currently, the concept of neuroinflammation includes inflammation associated with neurodegenerative diseases, in which there is little or no infiltration of blood-derived immune cells into the brain. However, the roles of brain-resident and peripheral immune cells in inflammatory settings are poorly understood, and neuroinflammation has not been well investigated in either Huntington’s disease (HD) patients or equivalent preclinical models. Aims This project aims to characterise the neuroinflammatory processes occurring in the R6/2 mouse model of HD over the time-course of the disease, using a number of molecular and cellular techniques in combination with in vivo imaging modalities (magnetic resonance spectroscopy [MRS] and magnetic resonance imaging [MRI]). Methods The R6/2 mouse expresses exon 1 of the human HTT gene, containing ˜180 CAGs. To begin undertaking a time-course analysis of the disease, immunohistochemistry (IHC) and western blotting were used in R6/2 and wild type (WT) mice between the ages of four- (pre-symptomatic) and 14-weeks-old (late-stage disease) to assess the neuroinflammatory processes in HD. Results Protocol optimisations to assess microglia and astrocytes (via their hallmark proteins IBA1 and GFAP respectively), two key cell types that mediate neuroinflammatory processes, have been performed for both western blotting and IHC. Subsequently, following their assessment in R6/2 mice, microglia and astrocytes were altered in terms of their reactivity, morphology and densities in comparison to WT controls. Conclusions The results of these investigations have begun to reveal changes in key neuroinflammatory cell types throughout the time-course of HD. In vivo imaging approaches and other molecular and cellular assessments will now be used to enable a more detailed characterisation of neuroinflammation in HD, and to identify robust, translational markers by which to track disease progression.","PeriodicalId":16509,"journal":{"name":"Journal of Neurology, Neurosurgery & Psychiatry","volume":"112 1","pages":"A11 - A11"},"PeriodicalIF":0.0,"publicationDate":"2018-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89452713","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}

{"title":"F22 Robust biomarkers of huntington’s disease progression: observations from the track-hd, predict-hd and image-hd studies","authors":"P. Wijeratne, E. Johnson, S. Gregory, A. Mohan, C. Sampaio, R. Scahill, S. Tabrizi, D. Alexander","doi":"10.1136/jnnp-2018-EHDN.126","DOIUrl":"https://doi.org/10.1136/jnnp-2018-EHDN.126","url":null,"abstract":"Background The TRACK, PREDICT and IMAGE-HD studies provide rich and varied datasets with which to identify robust imaging and clinical biomarkers of Huntington’s disease (HD) progression. A comparative analysis of biomarkers between studies has potential use in observational study design. Estimating the sequence in which these biomarkers become abnormal can provide important insights into HD pathology and a mechanism for disease staging. Aims We have, for the first time, analysed and statistically compared structural imaging and phenotypic clinical data from these three observational studies. We hence aim to identify a common set of robust biomarkers, and explain observational differences between studies. We also propose how to use these biomarkers to inform a model of HD progression. Methods We analysed structural imaging, clinical and behavioural data from a total of 357 TRACK, 1091 PREDICT, and 96 IMAGE-HD participants at baseline. The imaging data were segmented and parcellated using a common framework. Groupwise comparisons were made between controls, pre-manifest and manifest groups, and effect sizes compared between studies. An event-based model1 was trained to infer the most likely sequence of biomarker abnormality, and to stage participants. Results We identified a core set of significant imaging, clinical and behavioural biomarkers common to all studies, plus biomarkers that were significant within, but not between studies. Consequently, the disease progression model reveals a distinct, cross-validated pattern of imaging and phenotypic abnormality. Conclusions We successfully identified a set of robust biomarkers common to all studies, explored observational differences, and demonstrated that these biomarkers can be used to model HD progression. Reference . Wijeratne, et al. Ann Clin Trans Neurol2018. doi:10.1002/acn3.558","PeriodicalId":16509,"journal":{"name":"Journal of Neurology, Neurosurgery & Psychiatry","volume":"18 1","pages":"A47 - A47"},"PeriodicalIF":0.0,"publicationDate":"2018-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90069404","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}

{"title":"F49 Machine learning approach in analysis of enroll-hd data for suicidality prediction in huntington disease","authors":"Y. Seliverstov, A. Borzov, E. Duijn, B. Landwehrmeyer, M. Belyaev","doi":"10.1136/jnnp-2018-EHDN.152","DOIUrl":"https://doi.org/10.1136/jnnp-2018-EHDN.152","url":null,"abstract":"Background Suicidal ideation and suicidal behaviour are frequently reported, severe features in Huntington disease gene expansion carriers (HDGECs), but it is difficult to predict who are at increased risk. So far, no suicidality prediction models have been developed using machine learning approach (MLA). Objective To develop a model for prediction of suicidal ideation or suicidal behaviour in HDGEC based on Enroll-HD data using MLA. Design/methods We have developed a prediction model based on MLA using the third Enroll-HD study periodic dataset (PDS3). Suicidal ideation/behaviour was measured with the Columbia-Suicide Severity Rating Scale (C–SSRS). HDGECs with no or ‘passive’ suicidal ideations [state 1] at their first visit, who at the follow-up (FUP) either stayed in state 1 or worsened to ‘active’ suicidal ideations and/or suicidal behaviour [state 2] were analyzed. The PBAs scale was used to assess the presence of behavioural symptoms. Prediction algorithm was based on Boosted Trees (implementation from XGBoost Library for Python) and contained 48 variables from the PDS3. We also used Fisher Exact test, Mann–Whitney U-test, and Holm method. Results For 377 HDGECs (114 pre-manifest; 161 males; median age 50 [20;78]; median nCAG=43 [38;65]) C-SSRS data of two consecutive visits were available. At the FUP, 316 remained in state 1 and 61 HDGECs had worsened to state 2. Sixty four percent of the HDGECs who remained in state 1 at FUP were accurately classified (probability as having state 2 <30%). HDGECs who worsened to state 2 were correctly predicted in 38% cases (probability of being classified as having state 2 >60%). We then compared the poorly (probability <30%; 31 subjects) with the well (probability >60%; 23 subjects) classified groups in state 2 at FUP and found significant difference in the PBAs total scores for depression, anxiety, aggression, and apathy, with more severe baseline scores in the well classified HDGECs. However, regression analysis did not show a significant relationship of these behavioural symptoms and the probability of being classified as subject in state 2 at FUP. Conclusions Our model showed moderate accuracy. Further research is needed to understand the risk for development of suicidal ideation/behaviour in HDGECs with mild behavioural symptoms.","PeriodicalId":16509,"journal":{"name":"Journal of Neurology, Neurosurgery & Psychiatry","volume":"50 1","pages":"A57 - A57"},"PeriodicalIF":0.0,"publicationDate":"2018-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85170867","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}

{"title":"C02 Exome sequencing identifies differences in repeat structure as being associated with altered onset in huntington’s patients","authors":"Branduff McAllister, Thomas H. Massey, E. Rees, P. Holmans, N. Williams, L. Jones","doi":"10.1136/jnnp-2018-EHDN.73","DOIUrl":"https://doi.org/10.1136/jnnp-2018-EHDN.73","url":null,"abstract":"Background CAG repeat expansions in exon 1 of the Huntingtin gene (HTT) cause Huntington’s disease (HD). Longer CAG repeat tracts correlate inversely with disease onset, but there remains considerable variation between individuals at the same repeat size (˜50%). A recent GWAS highlighted DNA repair genes as modifiers of HD onset. To improve our understanding of the effects of DNA repair genes we used whole-exome sequencing (WES) in an extreme onset cohort of HD to investigate rare coding modifiers of potentially large effect. Aims Stratify REGISTRY–HD (n˜9000) by age at motor onset Sequence the 250 earliest and 250 latest onset HD individuals Identify rare modifiers of HD onset in these patients. Methods Subjects were taken from the EHDN REGISTRY-HD study. An expected age at motor onset was calculated for each participant, and a motor onset residual was calculated by taking the CAG repeat length predicted age at onset from the observed motor onset. The 250 participants with the largest residuals at each extreme were selected for WES. Results Typical HTT alleles have a penultimate CAA triplet in their structure (5’-CAGCAACAGCCG-3’). We find individuals possessing a pure CAG tract on their expanded HTT with no interruption have exclusively early HD onset. Conversely, additional CAA interruptions are associated with late onset disease (p=0.00014). These non-canonical alleles are uncommon (5.11% MAF across all allele types) but associated with large effects (10–20 years difference in onset). Conclusions Non-canonical HTT alleles are likely cis-modifiers of disease onset. As CAG and CAA encode glutamine, these findings highlight the importance of the DNA repeat sequence itself in HD pathogenesis. We hypothesise that atypical CAG sequence modulates the propensity of the repeat to expand in neurons, affecting neurodegeneration and disease onset. We are currently exploring other next generation sequencing approaches to measure repeat instability of these atypical repeat alleles.","PeriodicalId":16509,"journal":{"name":"Journal of Neurology, Neurosurgery & Psychiatry","volume":"29 1","pages":"A27 - A27"},"PeriodicalIF":0.0,"publicationDate":"2018-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83659458","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}

{"title":"H15 A multidisciplinary huntington disease clinic’s experience with the new canadian legislation allowing medical assistance in dying","authors":"Clare A. Gibbons, W. Fung, B. Henry, Sherali Esmail","doi":"10.1136/JNNP-2018-EHDN.195","DOIUrl":"https://doi.org/10.1136/JNNP-2018-EHDN.195","url":null,"abstract":"Background On June 17, 2016 Canada passed a law making medical assistance in dying (MAID) legal. To be eligible for MAID, the requestor must have a serious illness, be in an advanced state of decline that cannot be reversed, be experiencing unbearable physical or mental suffering that cannot be relieved and natural death must be reasonably foreseeable. The requestor also needs the mental competency to be able to give informed consent which requires an understanding of their medical diagnosis, available forms of treatments and options available to relieve suffering. Under the current legislation, advanced directives are not permitted for MAID requests. Cases: Case 1 – A 34 year old with moderate/severe motor symptoms and mild cognitive impairment. This individual experienced significant decline of ADLs over the past two years. All MAID requirements were met and MAID was completed. Case 2 – A 72 year old with moderate motor symptoms and declining cognitive abilities. This individual expressed an interest having MAID in the near future when quality of life deteriorated. Case 3 – A 48 year old with severe motor symptoms and significant cognitive impairment. For the past ten years, this individual has expressed the plan to pursue medical assisted death but was not able to fulfil the capacity requirements at the time of the MAID request. Case 4 – A 54 year old with mild motor symptoms and mild cognitive impairment. Last year, this individual sustained an injury that affected mobility and quality of life. The individual requested MAID and met the requirements but changed the scheduled date for MAID twice. Conclusion These cases highlight the clinical and emotional challenges for patients, families and professional staff related to assessing the MAID eligibility criteria of being in an advanced state of decline with reasonably foreseeable death while still possessing the cognitive ability needed to request and consent to MAID.","PeriodicalId":16509,"journal":{"name":"Journal of Neurology, Neurosurgery & Psychiatry","volume":"46 1","pages":"A73 - A73"},"PeriodicalIF":0.0,"publicationDate":"2018-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83752810","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}

{"title":"F57 Psychiatric symptoms in huntington’s disease: correlations between interview and self-report measures in the capit-hd2 beta-testing study","authors":"I. Mcmillan, D. McLauchlan, M. Busse, A. Bachoud-Lévi, R. Reilmann, A. Rosser, D. Craufurd","doi":"10.1136/jnnp-2018-EHDN.158","DOIUrl":"https://doi.org/10.1136/jnnp-2018-EHDN.158","url":null,"abstract":"Background Psychiatric symptoms are common in Huntington’s disease (HD) and contribute significantly to impairment of Functional Capacity. Low mood, anxiety and irritability are common in early HD, but affective symptoms are also common in the general population and previous studies have found that the mood disorder of HD correlates poorly with motor and cognitive measures of disease progression. Apathy tends to occur later, and correlates more closely with disease progression than the mood symptoms, probably because there is no effective symptomatic treatment. Measurement of psychiatric symptoms is also confounded by anosognosia and denial, limiting the usefulness of self-report measures. Methods One of the objectives of the Repair-HD study was to validate a new Core Assessment Protocol for Intra-cerebral Transplantation in HD (CAPIT-HD2), which includes several psychiatric measures. These include a semi-structured interview, the Problem Behaviours Assessment for HD (PBA-s), and several Patient-Reported Outcome (PRO) measures including the Frontal Systems Behaviour Scale (FrSBe), the Apathy Evaluation Scale (AES), the Hospital Anxiety and Depression Scale (HADS) and two PRO irritability scales. We examined correlations between the different measures of apathy, anxiety, depression, and irritability in the baseline psychiatric data. Results All four apathy measures were significantly correlated with each other (p<0.001). PBA-s irritability was significantly correlated with both PRO measures of irritability (p<0.001) but not with the FrSBe Disinhibition subscore. PBA-s and PRO measures of anxiety were also significantly correlated (p<0.001), but the PBA-s and PRO measures of depression were only weakly correlated (rs=0.19, p<0.05) suggesting that these were measuring somewhat different constructs. PBA-s depression and anxiety also correlated significantly (rs=0.38, p<0.001), as did HADS depression and anxiety (rs=0.42, p<0.001). Conclusions The interview and self-report measures used in this study were broadly consistent in this population of patients with stage 1 and stage 2 HD, with the possible exception of depression. A future analysis of changes between the baseline and 12-month assessments will examine the potential of each of these scales to measure disease progression in HD.","PeriodicalId":16509,"journal":{"name":"Journal of Neurology, Neurosurgery & Psychiatry","volume":"49 1","pages":"A59 - A60"},"PeriodicalIF":0.0,"publicationDate":"2018-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86264855","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}

{"title":"F64 Wearable technologies for assessment of physical activity in hd: preliminary analysis of movement variability and wear time","authors":"Vincent Poile, Gregory Youdan, L. Sheeran, L. Quinn, M. Busse","doi":"10.1136/jnnp-2018-EHDN.165","DOIUrl":"https://doi.org/10.1136/jnnp-2018-EHDN.165","url":null,"abstract":"Background Wearable technology can provide detailed information about physical activity (PA) in Huntington’s disease (HD). Most commercially available devices are however limited by the lack of disease specific validation and consideration of wear time. Aim To develop a methodology for accurate profiling of PA in HD. Methods We recruited 29 people with early stage HD (mean (SD) age 51.76 (10.27); 14 males) and 17 healthy controls (mean (SD) age 52.95 (10.76); 10 male) to a cross sectional multi-centre observational study. Participants used a wrist worn accelerometer for 7 days following the completion of a laboratory-based validation study. PA profiles (percentage time sedentary, low, moderate and high PA) were produced. Differences were assessed when accounting for wear time based on body temperature trends. Results HD mean (SD) device wear time over 7 days was 9783 mins (2192.84) (approx. 23.3 hours per day) and controls 7965 mins (1200.34) approx. 18.9 hours per day). When accounting for wear time HD participants were sedentary for 54% of the time and participated in light, moderate and vigorous PA for 27.2%, 17.4% and 0.43% of the time respectively. Control participants were sedentary for 61% of the time and participated in light, moderate and vigorous PA 26.6%, 11.2% and 1.2% of the time respectively. Conclusions Surprisingly HD participants were less sedentary than age matched controls. The impact of involuntary movements on the assessment of PA in HD needs to be explored. Critical to this is the importance of a wear time algorithm to identify true sedentary behaviour in comparison to non-wear.","PeriodicalId":16509,"journal":{"name":"Journal of Neurology, Neurosurgery & Psychiatry","volume":"AES-2 1","pages":"A62 - A62"},"PeriodicalIF":0.0,"publicationDate":"2018-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84443011","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}

{"title":"H38 Managing communication difficulties in huntington’s disease","authors":"A. Nuzzi","doi":"10.1136/jnnp-2018-EHDN.216","DOIUrl":"https://doi.org/10.1136/jnnp-2018-EHDN.216","url":null,"abstract":"Motor speech disorder, linguistic and cognitive difficulties, and behavioral changes significantly affect communication ability in Huntington’s disease. This progressive decline in communicative effectiveness negatively impacts social interactions resulting in diminished quality of life. However, these difficulties may vary over time and from person to person, requiring different intervention strategies based especially on the daily communication needs of HD patients and their families. The aims of this presentation are to: 1) highlight the need of a centered-person assessment of communication using the World Health Organization’s International Classification of Functioning, Disability and Health (ICF) model; 2) overview the available speech therapy interventions in HD to support communicative abilities and participation in everyday life even in late stage. Particular attention will also be paid to the use of new technologies in Teletherapy and Augmentative and Alternative Communication (AAC).","PeriodicalId":16509,"journal":{"name":"Journal of Neurology, Neurosurgery & Psychiatry","volume":"4 1","pages":"A80 - A80"},"PeriodicalIF":0.0,"publicationDate":"2018-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88352562","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}