Disability and Physical Exercise in adults with Myotonic Dystrophy type 1

Background: Myotonic dystrophy type 1(DM1) is an inherited, slowly progressive, multi-system disease. There is no overall picture of its effect in individuals, and there is a lack of scientific evidence to support recommendations on physical exercise. Aim: The aims of the work described in this thesis were to explore aspects of functioning, disability and contextual factors in adults with DM1 with regard to different stages of the disease; to describe the reliability and feasibility of the sixminute- walk test (6MWT), and to evaluate the feasibility and effects of a physical exercise programme. Methods: Seventy adults with DM1 were assessed using various methods and measures, including a modified ICF checklist, tests and questionnaires. The reliability of the 6MWT was evaluated in 12 persons with DM1, and its feasibility in another 64. A comprehensive group exercise training programme, the Friskis&Svettis® Open Doors programme, was evaluated in 35 adults with DM1. They were assigned by lot to either a training group (18 persons) or a control group (17 persons). The training group participated in the exercise programme for 60 minutes twice a week during 14 weeks. The 6MWT was the primary outcome measure. Stages of disease progression were in all the studies based on the disease-specific muscular impairment rating scale. Results: Excessive daytime sleepiness, muscle weakness and fatigue were common body-function impairments. Activity limitations were most frequently found in physically-demanding mobility activities. Few reported participation restrictions. Support from the immediate family was the most important facilitator for functioning. The individual’s total number of impairments, limitations and restrictions was high and persons with severe muscular impairment had more impairments and limitations/restrictions than did those with mild. The 6MWT was reliable and feasible. The better of two possible trials was identified for use as test result. A difference of 33 metres or 6% for an individual with DM1 for a change not to be ascribed to measurement error is suggested .The Open Doors programme was well tolerated and no detrimental effects were found. Intention-to-treat analyses revealed no significant between-group differences in the primary outcome measure. Six persons in the training group and two controls increased their 6MWT distance by ≥6%. Many participants in the training group experienced subjective improvements and could recommend this form of physical exercise to others with the same disease Conclusion: The finding of a wide variety of body-function impairments, activity limitations and participation restrictions underlines the multi-systemic nature of the disease and the vast impact it has on health. It further implies that a multi-professional approach is needed for optimal care. The information can be used for developing clinical practice and for health promotion for people with DM1. The 6MWT was reliable and feasible, and can be used as an outcome measure in adults with DM1. The Friskis&Svettis® Open Doors programme was feasible for adults with DM1 who had been screened for cardiac involvement, had distal or mild-to-moderate proximal muscle impairment and no severe cognitive impairments

Mechanisms of recovery after neck‐specific or general exercises in patients with cervical radiculopathy

Background The mechanisms of action that facilitate improved outcomes after conservative rehabilitation are unclear in individuals with cervical radiculopathy (CR). This study aims to determine the pathways of recovery of disability with different exercise programs in individuals with CR. Methods We analysed a dataset of 144 individuals with CR undergoing conservative rehabilitation. Eleven variables collected at baseline, 3, 6 and 12 months follow‐up were used to build a Bayesian Network (BN) model: treatment group (neck‐specific vs. general exercises), age, sex, self‐efficacy, catastrophizing, kinesiophobia, anxiety, neck–arm pain intensity, headache pain intensity and disability. The model was used to quantify the contribution of different mediating pathways on the outcome of disability at 12th months. Results All modelled variables were conditionally independent from treatment groups. A one‐point increase in anxiety at 3rd month was associated with a 2.45‐point increase in 12th month disability (p <.001). A one‐point increase in head pain at 3rd month was associated with a 0.08‐point increase in 12th month disability (p <.001). Approximately 83% of the effect of anxiety on disability was attributable to self‐efficacy. Approximately 88% of the effect of head pain on disability was attributable to neck–arm pain. Conclusions No psychological or pain‐related variables mediated the different treatment programs with respect to the outcome of disability. Thus, the specific characteristics investigated in this study did not explain the differences in mechanisms of effect between neck‐specific training and prescribed physical activity. The present study provides candidate modifiable mediators that could be the target of future intervention trials. Significance Psychological and pain characteristics did not differentially explain the mechanism of effect that two exercise regimes had on disability in individuals with cervical radiculopathy. In addition, we found that improvements in self‐efficacy was approximately five times more important than that of neck–arm pain intensity in mediating the anxiety‐disability relationship. A mechanistic understanding of recovery provides candidate modifiable mediators that could be the target of future intervention trials. Trials registration ClinicalTrials.gov identifier: NCT01547611

Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1:a multicentre, single-blind, randomised trial

Background: Myotonic dystrophy type 1 is the most common form of muscular dystrophy in adults and leads to severe fatigue, substantial physical functional impairment, and restricted social participation. In this study, we aimed to determine whether cognitive behavioural therapy optionally combined with graded exercise compared with standard care alone improved the health status of patients with myotonic dystrophy type 1. Methods: We did a multicentre, single-blind, randomised trial, at four neuromuscular referral centres with experience in treating patients with myotonic dystrophy type 1 located in Paris (France), Munich (Germany), Nijmegen (Netherlands), and Newcastle (UK). Eligible participants were patients aged 18 years and older with a confirmed genetic diagnosis of myotonic dystrophy type 1, who were severely fatigued (ie, a score of ≥35 on the checklist-individual strength, subscale fatigue). We randomly assigned participants (1:1) to either cognitive behavioural therapy plus standard care and optional graded exercise or standard care alone. Randomisation was done via a central web-based system, stratified by study site. Cognitive behavioural therapy focused on addressing reduced patient initiative, increasing physical activity, optimising social interaction, regulating sleep–wake patterns, coping with pain, and addressing beliefs about fatigue and myotonic dystrophy type 1. Cognitive behavioural therapy was delivered over a 10-month period in 10–14 sessions. A graded exercise module could be added to cognitive behavioural therapy in Nijmegen and Newcastle. The primary outcome was the 10-month change from baseline in scores on the DM1-Activ-c scale, a measure of capacity for activity and social participation (score range 0–100). Statistical analysis of the primary outcome included all participants for whom data were available, using mixed-effects linear regression models with baseline scores as a covariate. Safety data were presented as descriptives. This trial is registered with ClinicalTrials.gov, number NCT02118779. Findings: Between April 2, 2014, and May 29, 2015, we randomly assigned 255 patients to treatment: 128 to cognitive behavioural therapy plus standard care and 127 to standard care alone. 33 (26%) of 128 assigned to cognitive behavioural therapy also received the graded exercise module. Follow-up continued until Oct 17, 2016. The DM1-Activ-c score increased from a mean (SD) of 61·22 (17·35) points at baseline to 63·92 (17·41) at month 10 in the cognitive behavioural therapy group (adjusted mean difference 1·53, 95% CI −0·14 to 3·20), and decreased from 63·00 (17·35) to 60·79 (18·49) in the standard care group (−2·02, −4·02 to −0·01), with a mean difference between groups of 3·27 points (95% CI 0·93 to 5·62, p=0·007). 244 adverse events occurred in 65 (51%) patients in the cognitive behavioural therapy group and 155 in 63 (50%) patients in the standard care alone group, the most common of which were falls (155 events in 40 [31%] patients in the cognitive behavioural therapy group and 71 in 33 [26%] patients in the standard care alone group). 24 serious adverse events were recorded in 19 (15%) patients in the cognitive behavioural therapy group and 23 in 15 (12%) patients in the standard care alone group, the most common of which were gastrointestinal and cardiac. Interpretation: Cognitive behavioural therapy increased the capacity for activity and social participation in patients with myotonic dystrophy type 1 at 10 months. With no curative treatment and few symptomatic treatments, cognitive behavioural therapy could be considered for use in severely fatigued patients with myotonic dystrophy type 1. Funding: The European Union Seventh Framework Programme

Socioeconomic differences in food habits among 6- to 9-year-old children from 23 countries-WHO European Childhood Obesity Surveillance Initiative (COSI 2015/2017)

Background: Socioeconomic differences in children's food habits are a key public health concern. In order to inform policy makers, cross-country surveillance studies of dietary patterns across socioeconomic groups are required. The purpose of this study was to examine associations between socioeconomic status (SES) and children's food habits. Methods: The study was based on nationally representative data from children aged 6-9 years (n = 129,164) in 23 countries in the World Health Organization (WHO) European Region. Multivariate multilevel analyses were used to explore associations between children's food habits (consumption of fruit, vegetables, and sugar-containing soft drinks) and parental education, perceived family wealth and parental employment status. Results: Overall, the present study suggests that unhealthy food habits are associated with lower SES, particularly as assessed by parental education and family perceived wealth, but not parental employment status. We found cross-national and regional variation in associations between SES and food habits and differences in the extent to which the respective indicators of SES were related to children's diet. Conclusion: Socioeconomic differences in children's food habits exist in the majority of European and Asian countries examined in this study. The results are of relevance when addressing strategies, policy actions, and interventions targeting social inequalities in children's diets.The authors gratefully acknowledge support from a grant from the Russian Government in the context of the WHO European Office for the Prevention and Control of NCDs. Data collection in the countries was made possible through funding from Albania: WHO through the Joint Programme on Children, Food Security and Nutrition “Reducing Malnutrition in Children,” funded by the Millennium Development Goals Achievement Fund, and the Institute of Public Health; Bulgaria: Ministry of Health, National Center of Public Health and Analyses, WHO Regional Office for Europe; Croatia: Ministry of Health, Croatian Institute of Public Health and WHO Regional Office for Europe; Czechia: Ministry of Health of the Czech Republic, grant nr. AZV MZČR 17-31670 A and MZČ–VO EÚ 00023761; Denmark: Danish Ministry of Health; Georgia: WHO; Ireland: Health Service Executive; Italy: Ministry of Health and Italian National Institute of Health; Kazakhstan: Ministry of Health of the Republic of Kazakhstan and WHO Country Office; Kyrgyzstan: World Health Organization; Latvia: Ministry of Health, Centre for Disease Prevention and Control; Lithuania: Science Foundation of Lithuanian University of Health Sciences and Lithuanian Science Council and WHO; Malta: Ministry of Health; Montenegro: WHO and Institute of Public Health of Montenegro; Norway: Ministry of Health and Norwegian Institute of Public Health; Poland: National Health Programme, Ministry of Health; Portugal: Ministry of Health Institutions, the National Institute of Health, Directorate General of Health, Regional Health Directorates and the kind technical support from the Center for Studies and Research on Social Dynamics and Health (CEIDSS); Romania: Ministry of Health; Russian Federation: WHO; San Marino: Health Ministry, Educational Ministry; Serbia: This study was supported by the World Health Organization (Ref. File 2015-540940); Spain: Spanish Agency for Food Safety and Nutrition (AESAN); Tajikistan: WHO Country Office in Tajikistan and Ministry of Health and Social Protection; Turkmenistan: WHO Country Office in Turkmenistan and Ministry of Health; Turkey: Turkish Ministry of Health and World Bank. The CO-CREATE project has received funding from the European Union's Horizon 2020 research and innovation program under grant agreement No. 774210.info:eu-repo/semantics/publishedVersio

Consensus-based care recommendations for adults with myotonic dystrophy type 1

Purpose of review Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline exists to inform the care of these patients, and most do not have access to multidisciplinary care centers staffed by experienced professionals, creating a clinical care deficit. Recent findings The Myotonic Dystrophy Foundation (MDF) recruited 66 international clinicians experienced in DM1 patient care to develop consensus-based care recommendations. MDF created a 2-step methodology for the project using elements of the Single Text Procedure and the Nominal Group Technique. The process generated a 4-page Quick Reference Guide and a comprehensive, 55-page document that provides clinical care recommendations for 19 discrete body systems and/or care considerations. Summary The resulting recommendations are intended to help standardize and elevate care for this patient population and reduce variability in clinical trial and study environments. Described as “one of the more variable diseases found in medicine,” myotonic dystrophy type 1 (DM1) is an autosomal dominant, triplet-repeat expansion disorder that affects somewhere between 1:3,000 and 1:8,000 individuals worldwide.1 There is a modest association between increased repeat expansion and disease severity, as evidenced by the average age of onset and overall morbidity of the condition. An expansion of over 35 repeats typically indicates an unstable and expanding mutation. An expansion of 50 repeats or higher is consistent with a diagnosis of DM1. DM1 is a multisystem and heterogeneous disease characterized by distal weakness, atrophy, and myotonia, as well as symptoms in the heart, brain, gastrointestinal tract, endocrine, and respiratory systems. Symptoms may occur at any age. The severity of the condition varies widely among affected individuals, even among members of the same family. Comprehensive evidence-based guidelines do not currently exist to guide the treatment of DM1 patients. As a result, the international patient community reports varied levels of care and care quality, and difficulty accessing care adequate to manage their symptoms, unless they have access to multidisciplinary neuromuscular clinics. Consensus-based care recommendations can help standardize and improve the quality of care received by DM1 patients and assist clinicians who may not be familiar with the significant variability, range of symptoms, and severity of the disease. Care recommendations can also improve the landscape for clinical trial success by eliminating some of the inconsistencies in patient care to allow more accurate understanding of the benefit of potential therapies

A Call to Use the Multicomponent Exercise Tai Chi to Improve Recovery From COVID-19 and Long COVID

Approximately 10% of all COVID patients develop long COVID symptoms, which may persist from 1 month up to longer than 1 year. Long COVID may affect any organ/system and manifest in a broad range of symptoms such as shortness of breath, post-exercise malaise, cognitive decline, chronic fatigue, gastrointestinal disorders, musculoskeletal pain and deterioration of mental health. In this context, health institutions struggle with resources to keep up with the prolonged rehabilitation for the increasing number of individuals affected by long COVID. Tai Chi is a multicomponent rehabilitation approach comprising correct breathing technique, balance and neuromuscular training as well as stress- and emotional management. In addition, practicing Tai Chi elicits the relaxation response and balances the autonomic nervous system thus regulating respiration, heart rate, blood pressure and vitality in general. Moreover, Tai Chi has been shown to increase lung capacity, improve cognitive status and mental health, and thereby even the quality of life in diseases such as chronic obstructive pulmonary disease (COPD). Hence, we advocate Tai Chi as potent and suitable rehabilitation tool for post-COVID-19-affected individuals

Dimensions Underlying Measures of Disability, Personal Factors, and Health Status in Cervical Radiculopathy A Cross-Sectional Study

This cross-sectional study sought to identify dimensions underlying measures of impairment, disability, personal factors, and health status in patients with cervical radiculopathy. One hundred twenty-four patients with magnetic resonance imaging-verified cervical radiculopathy, attending a neurosurgery clinic in Sweden, participated. Data from clinical tests and questionnaires on disability, personal factors, and health status were used in a principal-component analysis (PCA) with oblique rotation. The PCA supported a 3-component model including 14 variables from clinical tests and questionnaires, accounting for 73% of the cumulative percentage. The first component, pain and disability, explained 56%. The second component, health, fear-avoidance beliefs, kinesiophobia, and self-efficacy, explained 9.2%. The third component including anxiety, depression, and catastrophizing explained 7.6%. The strongest-loading variables of each dimension were "present neck pain intensity," "fear avoidance," and "anxiety." The three underlying dimensions identified and labeled Pain and functioning, Health, beliefs, and kinesiophobia, and Mood state and catastrophizing captured aspects of importance for cervical radiculopathy. Since the variables "present neck pain intensity," "fear avoidance," and "anxiety" had the strongest loading in each of the three dimensions; it may be important to include them in a reduced multidimensional measurement set in cervical radiculopathy.Funding Agencies|Stockholm County Council ALF; Karolinska Institutet, Sweden</p

Dimensions Underlying Measures of Disability, Personal Factors, and Health Status in Cervical Radiculopathy A Cross-Sectional Study

This cross-sectional study sought to identify dimensions underlying measures of impairment, disability, personal factors, and health status in patients with cervical radiculopathy. One hundred twenty-four patients with magnetic resonance imaging-verified cervical radiculopathy, attending a neurosurgery clinic in Sweden, participated. Data from clinical tests and questionnaires on disability, personal factors, and health status were used in a principal-component analysis (PCA) with oblique rotation. The PCA supported a 3-component model including 14 variables from clinical tests and questionnaires, accounting for 73% of the cumulative percentage. The first component, pain and disability, explained 56%. The second component, health, fear-avoidance beliefs, kinesiophobia, and self-efficacy, explained 9.2%. The third component including anxiety, depression, and catastrophizing explained 7.6%. The strongest-loading variables of each dimension were "present neck pain intensity," "fear avoidance," and "anxiety." The three underlying dimensions identified and labeled Pain and functioning, Health, beliefs, and kinesiophobia, and Mood state and catastrophizing captured aspects of importance for cervical radiculopathy. Since the variables "present neck pain intensity," "fear avoidance," and "anxiety" had the strongest loading in each of the three dimensions; it may be important to include them in a reduced multidimensional measurement set in cervical radiculopathy.Funding Agencies|Stockholm County Council ALF; Karolinska Institutet, Sweden</p