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Introduction: Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder characterized by motor dysfunction, cognitive impairment, and psychiatric disorders. These symptoms cause functional limitations in occupational performance. This study aimed to describe the difficulties in self-care, productivity, and leisure activities and to analyze the patients’ own perception and satisfaction and the association with sex, age, disability, HD severity, and quality of life. Method: We conducted an observational, retrospective study in 38 patients with HD without cognitive impairment at the Burgos University Hospital. We assessed occupational performance, quality of life, and HD severity with the Canadian Occupational Performance Measure, Short-Form Health Survey 12, Unified Huntington’s Disease Rating Scale, Total Functional Capacity, and the Problems Behavior Assessment. Results: One hundred sixty-five occupations (median 4, range 2–7) were categorized as self-care (50.90%), leisure (30.30%), and productivity (18.79%). Patients reported a higher degree of satisfaction with the activities prioritized than with the degree of performance. Elderly HD patients reported more satisfaction in leisure and women in self-care. Self-ratings of satisfaction in productivity were associated with higher levels of mental wellbeing. Conclusions: HD patients have problems with their daily life occupations, particularly with self-care. This underlines the need for assessment tools that capture the complexity of occupations.

[Background and purpose]: Given the overlapping clinical manifestations and pathology, the differentiation between essential tremor (ET) and Parkinson's disease (PD) is difficult. Our aims were to examine the plasma metabolomics profiling and their association with motor and non-motor symptoms (NMS) in patients with PD, and to determine differences between de novo PD compared to moderate-advanced PD vs. controls and patients with ET., [Methods]: Plasma samples were collected from 137 subjects including 35 age matched controls, 29 NOVO-PD, 35 PD and 38 ET patients. PD severity, motor and NMS including cognitive function were assessed using the UPDRS, NMS and PD cognitive rating scales, respectively. Metabolomics analysis was performed by UPLC-ESI-QToF-MS followed by unsupervised multivariate statistics. The area under the curve of the biomarkers according to distribution of their concentrations and the diagnosis of PD (NOVO-PD, advanced PD) vs ET and healthy controls was used as a measurement of diagnostic ability., [Results]: Several acyl-carnitines, bilirubin, tyramine and tetrahydro-21-deoxycortisol (THS) presented good predictive accuracy (AUC higher than 0.8) for differentiating de novo PD and advanced PD from controls and ET, suggesting an alteration in the lipid oxidation pathway. In multivariate regression analysis, metabolite levels were not significantly associated with motor and NMS severity in PD., [Conclusions]: Diverse acyl-carnitines, bilirubin, tyramine and some adrenal gland derived metabolites are suggested as potential biomarkers able to distinguish between PD from controls and ET., This work was supported by Junta de Castilla y León (BIO/BU06/14).

Background Levodopa‐carbidopa intestinal gel (LCIG) is an established treatment for improving motor and some non‐motor symptoms (NMS) in patients with advanced Parkinson's disease (PD). Prospective long‐term data in routine clinical practice are limited. Objective Assess LCIG effectiveness and safety in patients with advanced PD after 12 months during real‐world routine clinical practice. Methods Duodopa/Duopa in patients with advanced Parkinson's disease—a global observational study evaluating long‐term effectiveness (DUOGLOBE) (NCT02611713) is an ongoing, prospective, multinational, observational study of LCIG‐naïve patients treated as part of routine clinical practice; 3 years of follow‐up are planned. The primary outcome is the change in patient‐reported off time. Other assessments include the Unified Dyskinesia Rating Scale (UDysRS), Non‐Motor Symptoms Scale (NMSS), Parkinson's Disease Sleep scale (PDSS‐2), Epworth Sleepiness Scale (ESS), health‐related quality of life (HR‐QoL), caregiver burden, and serious adverse events (SAEs). Outcomes from baseline to month (M) 12 are presented. Results In this 12‐month follow‐up, patients (N = 195) had baseline characteristics similar to other LCIG studies. Significant improvements (mean change to M12) were observed in off time (−3.9 ± 3.6 hr/day, P

Insulin-like growth factor 1 (IGF-1) seems to be involved in the neural circuits associated with social cognition and brain structure., Study funded by Gerencia Regional de Salud de Castilla y Leon (Sacyl GRS 1768/A/18).

En esta contribución se presenta el trabajo realizado dentro del proyecto Europeo Erasmus+ FORDYSVAR, cuyo objetivo principal es contribuir a la inclusión educativa de los estudiantes con dislexia, en edades comprendidas entre los 10 y los 16 años, mediante el uso de tecnologías emergentes, concretamente la Realidad Virtual (RV) y la Realidad Aumentada (RA) para mejorar el acceso, la participación y los logros educativos de los estudiantes con esta dificultad de aprendizaje. El propósito es generar un entorno de aprendizaje lúdico, divertido y seguro consiguiendo de esta manera un mayor compromiso hacia el tratamiento y mejorando su calidad de vida. Entre los resultados derivados de este proyecto se encuentra el diseño y creación de una aplicación de RV y RA que contribuya al aprendizaje de estudiantes con dislexia a partir del Diseño Centrado en el Usuario como metodología. Los resultados obtenidos hasta el momento permiten concluir que las tecnologías emergentes (RV y RA), son una interesante vía de tratamiento ya que ofrecen un entorno lúdico, seguro, controlado y motivador para los estudiantes con dislexia.

Telemedicine programs are particularly suited to evaluating patients with Parkinson’s disease (PD) and other movement disorders, primarily because much of the physical exam findings are visual. Telemedicine uses information and communication technologies to overcome geographical barriers and increase access to healthcare service. It is particularly beneficial for rural and underserved communities, groups that traditionally suffer from lack of access to healthcare. There is a growing evidence of the feasibility of telemedicine, cost and time savings, patients’ and physicians’ satisfaction, and its outcome and impact on patients’ morbidity and quality of life. In addition, given the unusual current situation with the COVID-19 pandemic, telemedicine has offered the opportunity to address the ongoing healthcare needs of patients with PD, to reduce in-person clinic visits, and human exposures (among healthcare workers and patients) to a range of infectious diseases including COVID-19. However, there are still several challenges to widespread implementation of telemedicine including the limited performance of parts of the neurological exam, limited technological savvy, fear of loss of a personal connection, or uneasiness about communicating sensitive information. On the other hand, while we are facing the new wave of COVID-19 pandemic, patients and clinicians are gaining increasing experience with telemedicine, facilitating equity of access to specialized multidisciplinary care for PD. This article summarizes and reviews the current state and future directions of telemedicine from a global perspective.

BACKGROUND Huntington's disease (HD) is an inherited neurodegenerative disorder, autosomal dominant caused by an expanded triplet (CAG) repeat in HTT gene on chromosome 4p, with a prevalence of 14/100,000 people. Major clinical features are involuntary movements, psychiatric symptoms, and cognitive dysfunction [1, 2]. There is no curative treatment for HD, with only symptomatic pharmacological treatments available. Due to the progressive course of neurodegeneration, HD patients progressively lose their functional capacity with increased dependence and risk for cardiovascular events, sepsis, and death.[3] Among the different clinical manifestations, weight loss and energy deficit (ED) have been described in HD, even in the early stages of the disease, contributing to the progression. The underlying mechanisms contributing to weight loss and the energy requirement in different stages of HD remain unknown.[4, 5] Surprisingly, HD patients often report an increased appetite with higher energy intake,[4, 6] and higher weight is associated with a slower rate of disease progression. [7] In this regard, the alterations in the brain and muscle metabolism and weight loss underscore that ED is likely an early phenomenon in the cascade of events leading to HD pathogenesis.[7] Biochemical studies support that mitochondrial dysfunction is a relevant factor in the alteration of ED in HD, and the hypothalamic dysfunction would contribute to weight loss.[5] Calories are units that measure the energy in food and the energy produced, stored, and utilized by living organisms. One calorie is defined as the amount of heat energy required to raise 1 g of water by 1°C [8]. TEE is the amount of energy an individual uses to maintain essential body functions (respiration, circulation, digestion) as a result of physical activity (PA).[9] TEE is then the sum of several components: resting energy expenditure (REE; 60–80%), PA (20–40%), and diet-induced thermogenesis (7–10%).[10] Adequate EB is achieved when TEE equals energy intake, defined as the energy consumed via food and beverage [8]. Previous literature in HD suggests that EB is not adequate, either due to reduced food intake (HD patients frequently suffer from dysphagia), abnormal REE secondary to structural damage (hypothalamic, mitochondrial disturbances produced by the neurodegeneration process per se), or abnormal PA due to chorea, or decreased mobility.[5, 11] Few studies on EB in neurodegenerative diseases, including HD, have comprehensively addressed and analyzed its contributing components.[12] Because most of these EB studies have been performed in controlled-laboratory research, there is a lack of knowledge about EB estimates in free-living environments. Valid measurement of PA in free-living environments is needed to describe and quantify PA and to assess the effectiveness of interventions and health promotion techniques.[13] Since their introduction as an objective measure of free-living PA in the early 1980s,[14] accelerometers have become a staple of the PA assessment repertoire. They have been used extensively in validating self-reported PA surveys, as outcome measures in intervention studies, and in research designed to identify the psychosocial and environmental correlates of PA behaviors. Accelerometry has the potential to provide information about the intensity, duration, and frequency of PA. A challenge in accelerometry-based approaches is that the raw outputs (typically called counts) must be converted into meaningful and interpretable units.[13] In most calibration accelerometer studies, counts are converted to oxygen consumption, metabolic equivalents (METs), or caloric expenditure as meaningful and interpretable measurements of PA intensity. [15] However, to predict energy expenditure related to PA, we should differentiate community-based samples vs. disease-based samples and calibrate these accelerometers with accurate cut points to distinguish levels of PA (mild, moderate, or vigorous). Sarcopenia defined as decreased muscle mass, is another important aspect of weight loss in HD and leads to higher dependency rates.[16] Overall, muscle mass can be quantified at different levels of body composition. Some methods, such as dual-energy X-ray absorptiometry (DXA), or Magnetic Resonance Imaging, have high validity but are complex and expensive.[17] In this regard, BIA is inexpensive and easy to perform in most settings, being the preferred method for clinical practice.[17] However, as in any other measurement, the accuracy of BIA in HD has not been established. Considering the lack of knowledge about EB in HD and its impact on body composition, it is important to conduct a study to validate different tools to calculate the EB and body composition in HD, and to provide preliminary data on EB in HD, which is the main objective. The present publication presents the protocol for this study. OBJECTIVE SPECIFIC GOALS The main aim of this study is to calculate the EB in patients with HD. Specific objectives of this study are 1) to validate the use of accelerometers to quantify energy expenditure related to PA under controlled conditions for HD patients using Indirect Calorimetry (IC) as the gold standard; 2) to study the EB (i.e., EE and energy caloric intake) in HD patients and to compare it with healthy controls; 3) to validate the use of BIA for HD to study body composition using DXA as the gold standard; 4) to study the impact of EB on functional capacity, sarcopenia status, the severity of motor and non-motor symptoms, psychiatric, and cognitive manifestations, QoL, and caregiver burden in HD patients. METHODS MATERIALS AND METHODS DESIGN This study is a protocol of a cross-sectional observational, multicentre study of a cohort of patients with HD patients compared to age, gender matched-control subject. The protocol of this study followed the STROBE statement reporting criteria for protocol case-control reports (figure 1). This study is registered on clinicalTrials.gov Identifier, with the registration number NCT05250323. We will conduct this study at the Universidad Isabel I, in collaboration with the Hospital Universitario de Burgos (HUBU). STUDY POPULATION A convenience sample of symptomatic, ambulatory, manifest, and premanifest patients with a confirmed genetic mutation for HD with >36 CAG repeats in the HTT gene, able to walk with minimal support, males and non-pregnant females > 18 years old, will participate in this project. To minimize the effects of environmental conditions, age and gender matched non-HD controls, will be recruited from family members and/or acquaintances or people in the private environment of cases, with similar lifestyles. All participants must sign the informed consent. Patients and controls who had hospital admissions for 3 or more days in the last four weeks, with diabetes mellitus on pharmacological treatment, thyroid, other neurodegenerative, heart, pulmonary or skeletomuscular diseases, pregnancy or breastfeeding, active cancer, and medication known to affect metabolism/endocrine function will be excluded. TEE assessments in all participants will be obtained by fasting for at least 5 hours. All participants will be instructed to avoid vigorous exercise on the day before testing. ETHICAL CONSIDERATIONS This study will be conducted according to the standards for Good Clinical Practice, the fundamental ethical principles established in the Declaration of Helsinki and the Oviedo Convention, and the requirements established in Spanish legislation in the research field. This project has been approved by the Comité Ético Complejo Universitario Burgos y Soria (Certificate number: CEIM-2429, January 26th, 2021). In order to participate in the study, all participants must read the informed consent, be able to ask questions and sign the document. Two copies will be signed, both signed by participants, researchers, and guardians or legal representatives (if any). The data's confidentiality and anonymity will be guaranteed throughout the study, available only to the researchers. The research documents will not be identified by the participant's name but will be assigned a code. The researchers will protect the participants' records, and the information on the codes, names, and addresses of the participants will remain confidential and available only to the researchers. The researchers will store all files in a secure location in a single folder dedicated to this study. The results of this research may be presented at meetings or publications; however, the participants' identities will not be revealed in these presentations. The risks during the research are minimal or nonexistent, but the assessment procedures may cause discomfort due to the presence of involuntary movements. If discomfort is experienced, the data acquisition may be paused until medical interventions are performed, if necessary. However, if discomfort persists, the participant will be removed from the research, the data collected will be excluded from analysis, and the patient will not be reallocated to another group Quality assurance: Investigator team The investigator team will be composed of one movement disorders UHDRS certified, two occupational therapists, two PhD Scientists in Nutrition and Dietetics, one biostatistician (Hospital Universitario of Burgos, Spain), and three PhD Sport Scientists. STUDY TIMETABLE Overall, the study timetable includes several breaks due to Covid-19 pandemic issues. 1. Pre-start procedures: June-July 2021. 2. Evaluation: July 2021-July 2022. 3. Data analysis: August 2022-September 2022. 4. Report and publications: year 2023. PROCEDURE After signing the informed consent form, investigators will invite HD patients and controls to participate. There will be no personal expenses for the participant during the study. All the evaluations will be performed on the same day at Hospital Universitario Burgos, and at the Sports Science Laboratory, University Isabel I, Spain. Demographics such as gender, age, education background, HD duration, and pharmacological and non-pharmacological treatment data will be collected from the medical chart. A flow diagram will be included, providing information for participation during the study. 1.Study assessments and Outcomes Disease severity: We will collect Sociodemographic information (gender, age, education background), and disease severity using standardized HD assessment tools: Unified Huntington's Disease Scale (UHDRS) and total functional capacity (TFC).[17] The UHDRS includes motor, behavioral, and cognitive evaluation, where low motor and behavioral scores and high cognitive scores denote better performance. TFC is derived from participant's and companion reports and quantifies a patient's ability to perform basic and instrumental activities (occupation, finances, housework, activities of daily living, and care level) ranging from 0 to 13, with higher scores indicating more intact functioning.[18] The severity of psychiatric symptoms will be assessed using the PBAs, with higher scores indicating greater severity.[19] Caregiver burden will be assessed using the Caregiver Burden Inventory,[20] with higher scores indicating higher caregiver burden and quality of life using the SF-12 Health Survey, with higher scores indicating higher quality of life.[21] A 3-day dietary record will assess dietary intake and adherence to the traditional MeDi by a trained nutritionist at baseline.[22] In all cases, oral nutritional supplements or vitamin and mineral supplements will be considered. Food groups, macro-and micronutrients, current caffeine, and alcohol consumption (caffeinated coffee, caffeinated tea, and other caffeinated beverages), and calorie intake information will be analyzed using the software Alimentación y Salud, version 2.0. We computed the MeDi adherence according to previous publications.[23] Briefly, sex-specific medians of food group intake will be calculated. For beneficial components, such as cereals, vegetables, fruits, fish, legumes, and the ratio of MUFA/SFA, 1 point will be attributed if consumption was at or above the sex-specific median value. For components presumed to be detrimental, such as meats and dairy products, 1 point will be given if consumption is below the sex-specific median value. The MeDi adherence will be generated for each participant by adding the scores in the food categories (ranging 0-9); values 0-3 will be considered low adherence, and values 4-9 will be considered moderate/high adherence. Energy Balance: To estimate EB, we will analyze EI and TEE. EI, macro, and micronutrients will be measured by using the Spanish validated questionary food consumption "Seguimiento Universidad de Navarra",[24] and a 3-day dietary record,[22] of 3 non-consecutive days. TEE will be calculated as the sum of REE, PA, and an estimated 10% diet-induced thermogenesis (Figure 2). REE will be measured by IC, using a gas analyzer (Medisoft Ergocard, Medisoft Group, Sorinnes, Belgium), and heart rate (Polar Electro V800, Kempele, Finland). The IC will be carried out in the morning after an overnight fast and not smoking, and REE will be obtained twice for 30 min after resting in bed in a quiet room and stabilizing respiratory quotient values for at least 5 min. Energy expenditure related to PA will be evaluated by IC, and two accelerometers simultaneously: Fitbit Charge 4® in the dominant hand and an ActiGraph wGT3X-BT® on the right hip. IC and both accelerometers will indirectly estimate energy expenditure using METs (Figure 3). Test protocol: All participants will receive a familiarization session on the treadmill before the test. During this session, participants will be accustomed to walking at different speeds on the treadmill without using the handrails while breathing through the mouthpiece. They will be advised to stop at any time by giving an agreed signal or pressing the stop button. Energy expenditure related to PA will be evaluated using different activities: 1) daily living simulation activities such as combing and eating, and dressing (putting on and taking off a jacket), with a duration of 3 minutes each; and 2) treadmill walk (Cosmos Pulsar 4.0®, Cosmos Sports & Medical, Nussdorf-Traunstein, Germany) with different intensities (3.2-5.3 km/h) and constant slope (1%). The participant will be able to use the sidebars to hold on and facilitate adaptation to walking on the mat, with a previous familiarization of 2 minutes and using a harness throughout the test (risk protection). Walking at a constant intensity of 3.2 km/h with a constant gradient of 1%, will serve as a measure of the activity of daily living–walking, and at a constant intensity of 5.2 km/h with a constant gradient of 1% as a measure of moderate activity. We will allow a recovery of 3 minutes between each finished test. After 10 minutes of recovery, participants will perform a walking test for 6 minutes in a corridor to calculate the maximal length (meters) each person can achieve in 6 minutes. Outdoor activity: participants with HD will be instructed to wear the Fitbit Charge 4® in the dominant hand and an ActiGraph wGT3X-BT® in the right hip for one week to quantify the total PA energy expenditure. Sarcopenia, frailty and nutrition status: Anthropometry: Body mass index (BMI) will be calculated by the following formula: weight (kg)/height2 (m2). We will classify the BMI according to the International WHO standards with BMI≥18.5102 cm for men and > 88 cm for women, and waist-to-height ratio associated with risk of abdominal obesity and chronic diseases as >0.5 cm.[26] The calf circumference for each leg will be used as a surrogate marker of muscle mass for diagnosing sarcopenia.[26] The presence of sarcopenia will be evaluated following the sarcopenia European consensus (Figure 4),[28] based on 1) Muscle quantity: total body Skeletal Muscle Mass, as Appendicular Skeletal Muscle assessed by DXA (Prodigy. General Electric Healthcare, United States) as our gold standard. In addition, we will use a multiple frequency BIA (Body Composition Analyzer Seca mBCA 525 (Hamburg, Germany), which uses eight electrodes. Impedance will be measured with a current of 100 μA at frequencies of 1, 2, 5, 10, 20, 50, 100, 200, and 500 kHz and an impedance measuring range of 10 Ω to 1000 Ω 29. We will validate BIA estimates against DXA to estimate body composition. For muscle quantity, we will obtain the fat mass, fat-free mass defined as the lean mass plus the bone mineral content 30; fat mass index defined as fat-free mass/height2 (kg/m2). [30] The following cutoff measurements will be used for men: 0.90. 32. We performed Bland-Altman plots for bias assessment with fat mass, fat-free mass. Fourth Goal "Estimates of the impact of EB on HD severity, health-related quality of life (QoL), and caregiver burden": We will perform correlation analyses of 1) EB with functional capacity, sarcopenia status, UHDRS motor and cognitive scores, psychiatric and cognitive manifestations, SF-12, and caregiver burden in HD patients; and 2) TEE and RE with TFC, UHDRS motor and cognitive scores, PBA, SF-12, and caregiver burden scores. Finally, we will conduct a multivariate linear regression analysis, including EB as the dependent variable and demographics, UHDRS cognitive and motor subdomain, PBA scores, SF-12, and caregiver burden as the independent variables. The analyses will not attempt to estimate missing data. RESULTS We will report the results with tables and graphs. We will report the validation of accelerometers against IC, BIA estimates versus DXA, EB estimates and comparison between HD and controls, and estimates of the impact of EB on HD severity, health-related quality of life (QoL), and caregiver burden. CONCLUSIONS Besides the common existence of neuronal loss, neurodegenerative diseases are also associated with metabolic changes such as weight changes, fat mass loss, and altered feeding behavior. Importantly, preclinical research and clinical studies have demonstrated that altered energy homeostasis influences disease progression in HD, suggesting that identifying the pathways leading to perturbed EB might provide valuable therapeutic targets.[37] This study will analyze the benefits of measuring EB for patients with HD and understand the effects of EB on HD severity, QoL, and caregiver burden. In order to analyze EB adequately, especially energy expenditure related to PA, it is recommended to conduct these studies in a free-living setting to replicate the regular patient motor behavior. Therefore, we will conduct this study at different stages: The first stage will determine the accuracy of accelerometers for estimating energy expenditure related to PA, and BIA for estimating body composition in HD. The second stage will determine and compare EB in HD patients vs. controls. The third stage will analyze the impact of EB on motor, and cognition severity caregiver burden, patient's quality of life, and frailty in terms of body composition and sarcopenia estimates in HD. To date, very few studies have studied EB in HD.[12, 38, 39] In a previous study conducted by our group, patients with HD appeared to have lower TEE mainly due to decreased PA but were still able to maintain their weight with an adequate food intake.[12] Decreased PA has also been seen in other neurodegenerative diseases, such as Parkinson's disease, suggesting that mobility problems or impaired cognition could also be a determinant factor for decreased energy expenditure related to PA.[12] Maintaining a neutral EB prevents malnutrition and its complications and might improve physical functioning, quality of life, and survival. [40] EB is a complex, multifactorial, poorly understood clinical problem requiring integrated multidisciplinary research and approach development. For this reason, one of the most important public health challenges would be to identify cost-effective interventions to prevent EB deficit, improve health status, and prevent disability in patients with neurodegenerative diseases. The main limitation of this laboratory-based study will be the small sample size of HD patients and controls given a limited budget and, consequently, lack of statistical power, selection bias, and lack of extrapolation to the general HD community. However, the results of this study will provide the scientific rationality to understand this complex problem and facilitate the integration of pharmacological and non-pharmacological strategies to prevent EB deficit. The results of this study should be confirmed in a real-life environment. Likewise, the results of this study could be used to calculate sample sizes in further studies. In terms of clinical utility, these results could be used to develop non-pharmacological strategies, providing adequate nutrition counseling to counteract a deficit in EB and prevent weight loss.[41, 43] Likewise, adequate PA counseling could improve functional health and EB, reducing sarcopenia and frailty in HD. [43] It should be noted that it would be interesting to carry out this study with a larger sample of both patients and controls. This would facilitate obtaining greater statistical power. In conclusion, this study is a challenging and original initiative designed to provide scientific background to provide therapeutic strategies to prevent EB deficit in HD. We hope this project will provide important information about EB estimates, the accuracy of wearable devices to quantify EE related to PA in a free-living setting, BIA to estimate body composition, and increase the knowledge about the clinical impact of EB on HD. All results from the study will be communicated by publication without any restriction. ACKNOWLEDGMENTS CLINICALTRIAL

Parkinson’s disease (PD) is a chronic, neurodegenerative movement disorder, whose symptoms have a negative impact on quality of life and functionality. Although its main treatment is pharmacological, non-pharmacological aids such as the dynamic elastomeric fabric orthosis (DEFO) merit an evaluation. Our objective is to assess the DEFO in upper limb (UL) functional mobility and in the quality of life of PD patients. A total of 40 patients with PD participated in a randomized controlled crossover study, and were assigned to a control group (CG) and to an experimental group (EG). Both groups used the DEFO for two months, the experimental group the first two months of the study and the control group the last two. Motor variables were measured in the ON and OFF states at the baseline assessment and at two months. Differences from the baseline assessment were observed in some motor items of the Kinesia assessment, such as rest tremor, amplitude, rhythm or alternating movements in the ON and OFF states with and without orthosis. No differences were found in the unified Parkinson’s disease rating scale (UPDRS) or the PD quality-of-life questionnaire. The DEFO improves some motor aspects of the UL in PD patients but this does not translate to the amelioration of the standard of functional and quality-of-life scales.

BACKGROUND Availability of validated Parkinson's disease (PD) questionnaires in languages spoken in Africa will enable the conduct of epidemiological studies. OBJECTIVE The aims of the current study were to develop cross-cultural translated and validated Arabic and French versions of a PD screening questionnaire, and determine its diagnostic accuracy for recognition of parkinsonism in early and moderate-advanced PD in three countries (Cameroon (French), Egypt (Arabic), and Nigeria (English)). METHODS This cross-sectional study screened 159 participants (81 PD and 78 controls) using the PD screening questionnaire. The questionnaire was translated into Arabic and French versions using standard protocols. Cognitive function was assessed using the Montreal Cognitive Assessment and the Identification and Intervention for Dementia in Elderly Africans cognitive screen. Co-morbidity burden was documented using the Charlson Comorbidity Index. PD severity and stage were evaluated using the MDS Unified Parkinson Disease Rating Scale and the Hoehn and Yahr scale respectively. RESULTS Both PD patients and controls were matched regarding age, gender, education, and co-morbidity burden. The PD screening questionnaire scores were significantly higher in PD (median 8.0, IQR 6.0-10.0) in contrast to controls (0.0, IQR 0.0-0.0) (p

Background: A growing body of evidence relates restless legs syndrome (RLS) to an increased risk of mortality attributable to both cerebrovascular and cardiovascular events. The aim was to investigate survival in patients with RLS. Methods: This was an observational, retrospective longitudinal study of a cohort of patients followed up for 11 years. RLS was diagnosed by a physician using the International RLS Study Group criteria. Mortality was analyzed using age-standardized mortality ratios (SMR: observed/expected deaths) and Cox regression analysis. Results: Vital status was studied in a cohort of 232 patients: 181 women (78%), 96 with RLS (41.4%) with a mean age at baseline of 49.8 ± 15.0 years and a mean RLS duration of 14.1 ± 1.9 years, and 136 non-RLS (58.6%) with a mean age of 51.3 ± 14.9 years. This RLS cohort was followed up for a period of 10.4 ± 2.0 years. As of September 2019, 17 (7.3%) patients died (6 with RLS, 6.3%), and the most frequent cause was oncological (66.7%). A total of 944 person-years of observations were available for survival analysis. RLS was not associated with increased mortality in adjusted Cox regression analysis (HR = 1.12, 95% CI: 0.40–3.15), and survival was similar to that expected for the general population (SMR = 0.61, 95% CI: 0.27–1.36). Conclusions: RLS seems not to be associated with increased mortality compared to the general population. Still, studies with prospective data collection with large samples are needed to study the long-term mortality risk factors in RLS cohorts.

[Background] Constipation has been linked to cognitive impairment development in Parkinson’s disease (PD). Objective:Our aim was to analyze cognitive changes observed in PD patients and controls from a Spanish cohort with regards to the presence or not of constipation. Methods:PD patients and controls recruited from 35 centers of Spain from the COPPADIS cohort from January 2016 to November 2017 were followed-up during 2 years. The change in cognitive status from baseline (V0) to 2-year follow-up was assessed with the PD-CRS (Parkinson’s Disease Cognitive Rating Scale). Subjects with a score ≥1 on item 21 of the NMSS (Non-Motor Symptoms Scale) at baseline (V0) were considered as “with constipation”. Regression analyses were applied for determining the contribution of constipation in cognitive changes., [Results] At V0, 39.7% (198/499) of PD patients presented constipation compared to 11.4% of controls (14/123) (p, [Conclusion] Constipation is associated with cognitive decline in PD patients but not in controls.

Background: It is believed that motor symptoms, including dyskinesia, and non-motor symptoms impact health-related quality of life (HRQoL) in patients with Parkinson’s disease (PD), and that improvements in these metrics are correlated. Objective: Investigate the relationship between HRQoL and measures of PD severity and treatment efficacy, including motor and non-motor symptoms. Methods: This was a planned investigation of an international, prospective, single-arm, post-marketing observational study of the long-term effectiveness of levodopa-carbidopa intestinal gel (LCIG) in patients with advanced PD. Pearson correlation coefficients (PCC) were calculated for baseline and change from baseline at 12 months between HRQoL and motor and non-motor symptoms. Results: A total of 195 patients were included. At baseline, HRQoL was moderately positively correlated with Activities of Daily Living (UPDRS II, PCC = 0.44), non-motor symptoms (0.48), and measures of sleep (0.50 and 0.40); all p

Contains fulltext : 282658.pdf (Publisher’s version ) (Open Access) IMPORTANCE: The Global Burden of Disease study conducted between 1990 and 2016, based on a global study of 195 countries and territories, identified Parkinson disease (PD) as the fastest growing neurological disorder when measured using death and disability. Most people affected by PD live in low- and middle-income countries (LMICs) and experience large inequalities in access to neurological care and essential medicines. This Special Communication describes 6 actions steps that are urgently needed to address global disparities in PD. OBSERVATIONS: The adoption by the 73rd World Health Assembly (WHA) of resolution 73.10 to develop an intersectoral global action plan on epilepsy and other neurological disorders in consultation with member states was the stimulus to coordinate efforts and leverage momentum to advance the agenda of neurological conditions, such as PD. In April 2021, the Brain Health Unit at the World Health Organization convened a multidisciplinary, sex-balanced, international consultation workshop, which identified 6 workable avenues for action within the domains of disease burden; advocacy and awareness; prevention and risk reduction; diagnosis, treatment, and care; caregiver support; and research. CONCLUSIONS AND RELEVANCE: The dramatic increase of PD cases in many world regions and the potential costs of PD-associated treatment will need to be addressed to prevent possible health service strain. Across the board, governments, multilateral agencies, donors, public health organizations, and health care professionals constitute potential stakeholders who are urged to make this a priority.

Producción Científica, Accelerometers can estimate the intensity, frequency, and duration of physical activity in healthy adults. Although thresholds to distinguish varying levels of activity intensity using the Actigraph wGT3X-B have been established for the general population, their accuracy for Huntington’s disease (HD) is unknown. We aimed to define and cross-validate accelerometer cut-points for different walking speeds in adults with mild to moderate HD. A cross-sectional, multicentre, case-control, observational study was conducted with a convenience sample of 13 symptomatic ambulatory HD participants. The accelerometer was placed around the right hip, and a heart monitor was fitted around the chest to monitor heart rate variability. Participants walked on a treadmill at three speeds with light, moderate and vigorous intensities. Correlation and receiver operation curve analyses were performed between the accelerometer magnitude vector with relative oxygen and heart rate. Optimal cut-points for walking speeds of 3.2 km/h were ≤2852; 5.2 km/h: >2852 to ≤4117, and in increments until their maximum velocity: >4117. Our results support the application of the disease-specific cut-points for quantifying physical activity in patients with mild to moderate HD and promoting healthy lifestyle interventions., Fundación “la Caixa" - (grant ID100010434) under agreement FUI1-PI008

The consolidation of telerehabilitation for the treatment of many diseases over the last decades is a consequence of its cost-effective results and its ability to offer access to rehabilitation in remote areas. Telerehabilitation operates over a distance, so vulnerable patients are never exposed to unnecessary risks. Despite its low cost, the need for a professional to assess therapeutic exercises and proper corporal movements online should also be mentioned. The focus of this paper is on a telerehabilitation system for patients suffering from Parkinson’s disease in remote villages and other less accessible locations. A full-stack is presented using big data frameworks that facilitate communication between the patient and the occupational therapist, the recording of each session, and real-time skeleton identification using artificial intelligence techniques. Big data technologies are used to process the numerous videos that are generated during the course of treating simultaneous patients. Moreover, the skeleton of each patient can be estimated using deep neural networks for automated evaluation of corporal exercises, which is of immense help to the therapists in charge of the treatment programs., This work was supported by project PI19/00670 of the Ministerio de Ciencia, Innovación y Universidades, Instituto de Salud Carlos III, Spain. The authors gratefully acknowledge the support of the NVIDIA Corporation and its donation of the TITAN Xp GPU used in this research. In addition, this work was partially supported by the European Social Fund, as the authors José Miguel Ramírez-Sanz, José Luis Garrido-Labrador, and Alicia Olivares-Gil are the recipients of a pre-doctoral grant (EDU/875/2021) from the Conserjería de Educación de la Junta de Castilla y León.

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.

Background Body composition is a strong indicator of nutritional and health status. Dual energy X-ray absorptiometry (DXA), multifrecuency bioelectrical impedance analysis (BIA), anthropometry and, skinfolds are non invasive methods to assess body composition with different levels of reliability. The validity of anthropometric and skinfolds to estimate body composition in HD is still controversial. Aims To determine and compare body composition according to DXA, BIA, anthropometry and, skinfolds estimates in HD. Methods Cross-sectional, multicenter and, national study. 20 genetically confirmed HD patients and, 10 gender gender-aged paired controls. Body composition was assessed under standardized conditions using the DXA (Prodigy of General Electric Healthcare), and BIA (Body Composition Analyzer Seca mBCA 525). Skinfold thicknesses were measured by Holtain skinfold caliper. Circumferences at waist, hip, calf, arm, wrist were measured using soft non stretchable tape Seca and, weight and heigth by Seca brand electronic scale with height rod. To analize the accuracy of BIA, anthropometrics, and skin folds against DXA, correlations and receiver operating curve analysis will be performed. Results Whereas DXA is a method where is necessary to have technical staff and qualified in the handling of X-rays equipment, rarely used in routine clinical practice. BIA has limitations due to the chemical composition of fat free mass because of considerable inter- and intraindividual variability. The accuracy of BIA measurements is high when specific predictive equations and standardized measurement protocols are utilized. Anthropometry and skinfolds are very-low cost, accesible to health personnel in routine clinical practice, with good sensitivity and specificity in the adult, healthy population. The results of this study will be presented. Conclusions The results will help to estimate body composition with low-cost methods easy to use to prevent malnutrition and sarcopenia in HD.