Multiple case study of changes in participation of adults with myotonic dystrophy type 1: Importance of redesigning accomplishment and resilience

This study explored and explained changes in participation post-diagnosis with myotonic dystrophy type 1 from the perspective of six adults, their relatives and nurse case managers. A multiple case study was carried out with these triads (n=18) using semi-structured individual interviews, medical charts, and a participation patient-reported outcome measure. The six cases were built around three women and three men (age: 40-56 years; disease duration: 19-39 years). Their “relatives” were mainly family members. Nurse case managers had done annual follow-ups with all the adults for approximately ten years. Changes in participation were characterized generally by: 1) heterogeneity, 2) insidious increase in restrictions, and more specifically by: 3) redesigning accomplishment, 4) progressive social isolation, 5) restrictions in life-space mobility, and 6) increasingly sedentary activities. Important facilitators of participation were the adult’s resilience, highly meaningful activities, social support, living arrangement, and willingness to use technical aids. Barriers were mostly related to symptoms and a precarious social network, and were affected by misfit and potential syndemic interactions between personal (e.g., comorbidities) and environmental (e.g., stigma) factors. This study identified key facilitators and barriers and their underlying processes, which should be integrated in the evaluation and intervention framework to optimize participation over time

Conséquences fonctionnelles et sociales de la dystrophie myotonique : impacts des facteurs personnels et environnementaux sur la participation sociale

But : Le but de ce programme était de décrire et d’expliquer la participation sociale des personnes atteintes de dystrophie myotonique de type 1 (DM1). Méthode : Un échantillon aléatoire de 200 patients atteints de DM1 (phénotype léger (42) ou adulte (158)) a été recruté. La participation et la satisfaction dans la réalisation des habitudes de vie a été évaluée avec la Mesure des Habitudes de Vie (MHAVIE). Les facteurs environnementaux ont été évalués avec la Mesure de la Qualité de l’Environnement. Les facteurs personnels incluant la force musculaire, l’équilibre, la dextérité fine, la fatigue et l’hypersomnolence ont été évalués à l’aide d’instruments standardisés. Résultats : Les participants avec le phénotype adulte ont démontré un niveau de participation significativement inférieur à celui des participants avec le phénotype léger dans 8 des 11 catégories de la MHAVIE. Une restriction de la participation a été rapportée dans les catégories Déplacements, Habitation, Soins personnels, Nutrition, Condition corporelle, Travail, Loisirs, Vie communautaire chez les participants avec le phénotype adulte. La réalisation des habitudes de vie dans la catégorie loisirs était la plus affectée avec 57% des items qui démontraient une restriction de la participation chez 22 à 27% des participants. Les catégories Travail et Loisirs ont eu le plus faible taux de satisfaction. Les prédicteurs d’une atteinte de la participation sociale des quatre domaines les plus touchés soit Habitation, Déplacements, Travail et Loisirs ont été déterminés avec une analyse de régression logistique. Pour les facteurs personnels, la diminution de la force musculaire et une fatigue importante étaient significativement associées à la diminution de la participation sociale. Pour les facteurs environnementaux, la présence d’obstacles liée au support de la famille et l’accès et l’utilisation de la technologie est associée à une plus faible participation. Conclusion : Cette étude a permis de dresser un portrait et de mieux comprendre la participation sociale dans la DM1. Les résultats aideront à mieux définir le processus d’évaluation et la mise en place d’interventions en réadaptation et dans le milieu communautaire.Objective: To describe and explain social participation of persons with the adult and mild phenotype of myotonic dystrophy type 1 (DM1). Methods: A random sample of 200 subjects with DM1 (42 mild phenotype, 158 adult phenotype). Level of social participation and satisfaction was assessed with the Assessment of Life Habits (LIFE-H). Environmental factors were assessed with the Measure of the Quality of the Environment. Personal Factors were assessed with standardized instruments including Berg Balance Scale, Krupps Fatigue Severity Scale, and Manual Muscle Testing. Results: Participants with the adult phenotype demonstrated significantly lower participation level than those with the mild phenotype on 8 out of the 11 categories of the LIFE-H. Lower levels of accomplishment were reported in Mobility, Housing, Fitness, Nutrition, Personal Care, Employment, Recreation and Community Life categories among the adult phenotypes. The Recreation category was the most affected category with four out of seven items revealing compromised accomplishment among 22% to 27% of individuals. The lowest satisfaction score was observed in the Employment and Recreation categories. The predictors of the most restricted participation domains being Housing, Mobility, Employment and Recreation were determined with a logistic regression analysis. Participants reported disturbed participation in a large proportion (45-61%) for all domains. Lower extremity strength [OR = 15.4 – 5.5; p < 0.05] and higher fatigue [OR = 6.0 – 2.6; p < 0.05] were significantly present in participants with disturbed participation for all domains. For environmental factors, social support [OR = 3.6 – 2.5; p < 0.05] and public services [OR = 2.8 – 2.4; p < 0.05] were significantly perceived as barriers for participants with disturbed participation for most domains. Conclusion: This doctoral program has permited to better understand social participation in DM1. The results will help to elaborate a more comprehensive evaluation scheme and to develop intervention to promote optimal social participation in this population

Clinical practice guideline in physiotherapy to promote sexuality in adults with a neuromuscular disease (short version)

The short guide is an abbreviated version of “Clinical practice guideline on roles and interventions in physiotherapy to promote sexuality in adults with a neuromuscular disease”. This short version highlights important elements of the long version of the guide and is intended as a practical clinical reference document. The long version of the guide is intended for physiotherapists working with adults with a neuromuscular disease (NMD) who wish to address sexuality with this clientele. The CPG aims to: 1) Propose approaches to address the subject of sexuality with people who have a neuromuscular disease; 2) Provide physiotherapists with tools by identifying and documenting a set of relevant interventions that can be applied in their practice; 3) Highlight issues related to sexuality that can be addressed by all physiotherapists and those requiring expertise in pelvic floor physiotherapy; 4) Support the process of referral to other health professionals involved in providing care. The CPG was developed using the “The Rare Knowledge Mining Methodological Framework”, which includes a literature review, consultation and validation process. It is available in French and in English

Intervenir auprès des jeunes de niveau collégial : que vivent-ils et quels genres d'intervenants et d'interventions veulent-ils?

Ce mémoire traite des jeunes et du monde de l'éducation, plus particulièrement du niveau collégial. Le désir de connaître les diverses situations problématiques de ces étudiants, les ressources mises à leur disposition et le type d'intervention et d'intervenant qu'ils souhaitent est au centre de cette recherche. Une meilleure connaissance de cet agrégat a pour objectif d'apporter de nouvelles informations au corpus littéraire, un renouvellement des pratiques d'intervention et une amélioration des ressources offertes à ce niveau. Cette recherche est une exploration bibliographique et de terrain dans le but de mettre à jour les données existantes et de renouveler les pratiques d'intervention auprès de cette population. Les résultats rapportent les situations problématiques de ces jeunes ainsi que les types de services ou de ressources qu'ils souhaitent avoir afin de vivre adéquatement cette période critique de leur vie. Il a été pris comme postulat que cette population était oubliée et abandonnée des ressources scolaires, ces dernières étant très présentes au niveau secondaire alors qu'au niveau universitaire la maturité acquise des jeunes leur permet de recourir et de trouver plus aisément l'aide nécessaire. Par ailleurs, cette étude s'inscrit dans la perspective théorique de l'interactionnisme symbolique; c'est-à-dire qu'il est attendu que les problèmes vécus par ces jeunes proviennent d'une rupture, d'une absence ou d'une mauvaise interprétation des interactions entre ces jeunes et les divers intervenants professionnels et sociaux présents au niveau collégial. La méthodologie employée a débuté par une revue de littérature visant un recensement des problèmes connus des étudiants du cégep, c'est-à-dire des jeunes entre 17 et 22 ans. Ensuite, huit entrevues, certaines individuelles, d'autres de groupe, avec des étudiants des Cégep de Thetford Mines et de Victoriaville ont été réalisées, pour un total de 19 collégiens ayant participé à cette étude. Les différentes situations problématiques, vécues ou racontées, exprimées par les participants sont présentées et analysées en lien avec l'intervention actuelle et celle souhaitée. Il a été découvert au cours de ce mémoire que la littérature comprenait des lacunes au niveau des connaissances sur la population des collèges. Ainsi, la première partie de ce rapport présente les éléments et/ou les situations problématiques connues dans la littérature. Il s'agit de l'avenir, de l'environnement familial, des ruptures affectives, du suicide et du décrochage scolaire. Toutefois, suite aux entrevues, plusieurs éléments ou situations nouvelles se sont ajoutées. L'analyse du contenu de ces entretiens démontre que les étudiants ont des difficultés ou des commentaires concernant le passage du secondaire au collégial, la gestion du temps, le choix de carrière, les relations familiales, les amours (relation de couple et rupture affective), l'influence des amis, la consommation de drogue et/ou d'alcool, la mort, les rapports avec les professeurs, l'association étudiante, la vie étudiante et culturelle et les services professionnels. De plus, les participants ont illustré leur vision de l'intervention ainsi que l'intervenant idéal. Finalement, il est souhaité que ce mémoire permette aux intervenants de mieux comprendre ces jeunes afin d'intervenir plus efficacement

Progressive Decline in Daily and Social Activities: A 9-year Longitudinal Study of Participation in Myotonic Dystrophy Type 1

Abstract : Objective: To describe and compare changes in participation over a 9-year period in women and men with myotonic dystrophy type 1 (DM1). To compare participation restrictions with available reference values from a typical aging population living in the community. Design: Descriptive longitudinal design comparing data from baseline (2002) with data from follow-up (2011). Setting: Neuromuscular clinic and participant’s home. Participants: Adults with DM1 participated in the follow-up study (NZ115). Interventions: Not applicable. Main Outcome Measure: The Assessment of Life Habits measured participation in 10 domains of daily and social activities. The minimal clinically important difference is 0.5 on a 10-point scale for participation accomplishment level. Results: A total of 62% of participants were women, and the mean age was 52.3 10.3 years. A decline (P<.01) was observed with increasing difficulty and assistance required in global participation (mean SD, 0.5 0.9), social activities subscore ( 0.6 1.2), nutrition ( 0.7 1.4), fitness ( 1.0 1.6), personal care ( 0.7 1.2), mobility ( 0.5 1.9), community life ( 0.8 1.9), and recreation ( 1.5 3.0). More life areas are disrupted over time: 8 domains were below reference values from a population aged 55-64 years at follow-up compared with 2 domains at baseline. Satisfaction with participation remains high and stable over time. Conclusion: As disease duration increases, global participation and more daily and social domains were restricted with increasing difficulty and assistance required. Adults with DM1 showed not only age-associated but disease-specific changes in participation. Description over time of participation could improve clinical assessment and guide interdisciplinary management of DM1, leading to higher rehabilitation success. Further investigation of the factors influencing changes in participation is required to support disease management and services planning. [Symboles non conformes

Traduction française de l’échelle Charcot- Marie-Tooth Disease Pediatric Scale

Cet article présente le processus de traduction en français du Charcot-Marie-Tooth Disease Pediatric Scale (CMTPedS), le seul outil de mesure validé évaluant la sévérité de la maladie chez les enfants atteints de CMT. Le processus de traduction utilisé s’inspire des lignes directrices de la Food and Drug Administration (FDA). La version préliminaire francophone du CMTPedS a été testée auprès de 14 enfants atteints. Les résultats de l’application démontrent que la passation a été bien tolérée par les enfants et s’est avérée conviviale pour les cliniciens. La disponibilité de cet outil en français semble prometteuse pour le suivi des enfants atteints et la réalisation d’essais clinique.French Translation of the Charcot-Marie-Tooth Disease Pediatric Scale. We describe the translation process we used to translate into French the Charcot-Marie-Tooth Disease Pediatric Scale (CMTPedS), the only validated measuring tool evaluating the severity of the disease in children with CMT. The translation process is based on the Food and Drug Administration Guidelines. The French preliminary version of the CMTPedS was tested on 14 children with CMT. It was well tolerated by the children and deemed to be user- friendly by the physicians. The availability of this French tool seems promising for the clinical follow-up of children with CMT and for those enrolled in clinical trials

Effect of rehabilitation length of stay on outcomes in individuals with traumatic brain injury or spinal cord injury : a systematic review protocol

Background: Rehabilitation interventions are a key component of the services required by individuals with neurotrauma to recover or compensate for altered abilities and achieve optimal social participation. Primary studies have produced evidence of the effect of rehabilitation length of stay on individuals with neurotrauma. However, to date no systematic review of this evidence has been performed. This makes it difficult for managers and clinicians to base their rehabilitation practices upon evidence. Method: Supported by a committee of stakeholders, we will search electronic databases for research articles examining the association between length of stay or intensity of inpatient rehabilitation services and outcomes or the determinants of inpatient rehabilitation length of stay in adults with neurotrauma published after January 1990. Two researchers will independently screen the article titles and abstracts for inclusion. Two reviewers will independently extract the data. Primary outcomes of interest will be level of function, participation and return to work. If the data allow it, a meta-analysis of the studies will be performed. Discussion: The results of this systematic review will clarify the factors that influence length of stay and intensity of rehabilitation services for individuals with TBI and SCI. They will give clinicians indications for optimal length of stay in these patient populations, contributing to better quality of care and better functional results

A 9-year follow-up study of the natural progression of upper limb performance in myotonic dystrophy type 1: a similar decline for phenotypes but not for gender

Abstract: This study aimed to document and compare the decline of upper limb performance among adults with myotonic dystrophy type 1 according to phenotype and gender. A longitudinal descriptive design compared upper limb performance at baseline and follow-up of 70 women and 38 men with the late-onset or adult phenotypes. Grip strength and pinch strength as well as gross dexterity and fine dexterity were assessed. All four performance measures decreased significantly (p < 0.001). The decline over time was similar for individuals with the late-onset and adult-onset phenotypes, but differed according to gender. For late-onset and adult-onset phenotypes respectively, women lost less grip strength than men: 0.4 and minus 0.8 kg (2.0% and -9.4%) in women vs. minus 7.4 and minus 3.1 kg (-19.2% and -30.7%) in men. A similar situation was found for gross dexterity: minus 3.0 and minus 3.2 blocks (-4.6% and -5.9%) in women vs. minus 12.4 and minus 8.7 blocks (-19.4% and -16.6%) in men. Pinch gauge had the smallest standard deviations and was one of the only measurement tools with significant detectable changes in relation to the standard error of measurement. Given these results, health professionals and researchers should consider phenotype and gender differently when planning health services or future studies. Indeed, as their upper limb strength and dexterity differed, even if their decline was similar, the phenotypes should not be pooled. Finally, the use of the pinch gauge to assess long-term change in upper limb ability seems preferable to the three other measurements

A scoping review of clinical practice improvement methodology use in rehabilitation

CONTEXT: The Clinical Practice Improvement (CPI) approach is a methodological and quality improvement approach that has emerged and is gaining in popularity. However, there is no systematic description of its use or the determinants of its practice in rehabilitation settings. METHOD: We performed a scoping review of the use of CPI methodology in rehabilitation settings. RESULTS: A total of 103 articles were reviewed. We found evidence of 13 initiatives involving CPI with six different populations. A total of 335 citations of determinants were found, with 68.7% related to CPI itself. Little information was found about what type of external and internal environment, individual characteristics and implementation process might facilitate or hinder the use of CPI. CONCLUSION: Given the growing popularity of this methodological approach, CPI initiatives would gain from increasing knowledge of the determinants of its success and incorporating them in future implementation

Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes

Myotonic dystrophy type 1 (DM1) is an autosomal dominant inherited disorder caused by expansion of a germline and somatically unstable CTG repeat in the DMPK gene. Previously, CTG repeat length at birth has been correlated to patient age at symptom onset. Attempts to correlate CTG repeat length with progressive DM1 phenotypes, such as muscle power, have proven difficult. To better correlate genotype with progressive phenotypes, we have measured CTG repeat tract length and screened for interrupting variant repeats in 192 study participants from a well-characterized Canadian cohort. We have assessed genotype–phenotype correlations with nine progressive measures of skeletal muscle power and respiratory function. We have built statistical models that include confounding factors such as sex, age, height and weight to further explain variation in muscle power. Our analysis reveals a strong correlation between DM1 genotype and respiratory function and skeletal muscle power, as part of a complex model that includes additional modulators such as sex, age, height, weight and the presence or absence of interrupting variant repeats. Distal skeletal muscle measurements, such as hand pinch and grip strength, show the strongest correlation with disease genotype. Detailed analysis of CTG repeat length, and incorporation of confounding factors, greatly improves the predictive ability of these models. They reveal a greater genetic influence on individual progressive phenotypes than on age at symptom onset and for clinical trials will help optimize stratification and explain patient variability. They will also help practitioners prioritize assessment of the muscular power measurements that correlate best with disease severity