Multiple Case Study of Changes in Participation of Adults with Myotonic Dystrophy Type 1: Importance of Redesigning Accomplishment and Resilience.

BACKGROUND: Myotonic dystrophy type 1 (DM1) is the most prevalent adult form of neuromuscular disorders, for which a decrease of participation with age is known. However, little is known about facilitators and barriers to participation, especially from the perspective of both patients and caregivers. OBJECTIVE: 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. METHODS: A multiple case study was carried out with these triads (n =  6) 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. RESULTS: 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. CONCLUSION: This study identified key facilitators and barriers and their underlying processes, which should be integrated into the evaluation and intervention framework to optimize participation over time.

Predictors of participation restriction over a 9-year period in adults with myotonic dystrophy type 1.

PURPOSE: For slowly progressive neuromuscular disease, prognostic approach and long-term monitoring of participation is a crucial part of rehabilitation services. To improve the prognostic approach, professionals must identify individuals at risk of having higher participation restriction. This study aimed to identify personal and environmental predictors of participation restriction over nine years in adults with myotonic dystrophy type 1 (DM1). METHODS: A secondary analysis of a longitudinal design comparing baseline with a follow-up nine years later was used with a multidimensional assessment of participation and personal and environmental factors. Based on theoretical models, multiple linear regressions were used. RESULTS: One hundred and fourteen adults with DM1 were included in the study (63.2% women; 78.9% adult onset; mean (SD) age of 43.5 (10.4) years). When age, sex, phenotype, and education were controlled for, participation restriction was predicted by a longer time to stand and walk, lower grip strength, higher body mass index, absence of perceived impact of myotonia in daily living, use of adapted transportation from community services, and perception of obstacle in physical environment (p < 0.001, adjusted R2 = 0.50). CONCLUSIONS: The majority of predictors of participation restriction can be advantageously modified by rehabilitation and environmental changes, such as politics targeting community services provision or physical environment and services accessibility.Implications for rehabilitationPredictors could better inform rehabilitation professional to recognize individuals at risk of higher participation restriction over time and to target specific interventions based on a prognostic approach.Rehabilitation professionals could inform the people living with myotonic dystrophy type 1 and their relatives of the multifactorial nature of occurrence of participation restriction to diminish the "fatality" associated with a genetic progressive disorder.Predictors allow professionals to assess and intervene in the management of specific factors depending on the rehabilitation goal.Identifying individual with myotonic dystrophy with higher risk of participation restriction could help implement a long-term community based rehabilitation intervention plan targeting both personal and environmental factors.

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

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 (N=115). 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.

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.

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.

Stanford Chronic Disease Self-Management Program in myotonic dystrophy: New opportunities for occupational therapists: Stanford Chronic Disease Self-Management Program dans la dystrophie myotonique : De nouvelles opportunités pour les ergothérapeutes.

BACKGROUND: Chronic disease self-management is a priority in health care. Personal and environmental barriers for populations with neuromuscular disorders might diminish the efficacy of self-management programs, although they have been shown to be an effective intervention in many populations. Owing to their occupational expertise, occupational therapists might optimize self-management program interventions. PURPOSE: This study aimed to adapt the Stanford Chronic Disease Self-Management Program (CDSMP) for people with myotonic dystrophy type 1 (DM1) and assess its acceptability and feasibility in this population. METHOD: Using an adapted version of the Stanford CDSMP, a descriptive pilot study was conducted with 10 participants (five adults with DM1 and their caregivers). A semi-structured interview and questionnaires were used. FINDINGS: The Stanford CDSMP is acceptable and feasible for individuals with DM1. However, improvements are required, such as the involvement of occupational therapists to help foster concrete utilization of self-management strategies into day-to-day tasks using their expertise in enabling occupation. IMPLICATIONS: Although adaptations are needed, the Stanford CDSMP remains a relevant intervention with populations requiring the application of self-management strategies.

Assessing upper extremity capacity as a potential indicator of needs related to household activities for rehabilitation services in people with myotonic dystrophy type 1.

This study aimed to assess upper extremity capacity as a potential indicator of needs related to household activities for rehabilitation services in people with myotonic dystrophy type 1 (DM1). A cross-sectional study was set in an outpatient neuromuscular clinic where 200 adults with a confirmed diagnosis of DM1 (121 women; mean age: 47 y) were selected from the registry of a neuromuscular clinic to participate. Housing-related activities were assessed using the "housing" section of the Assessment of Life Habits Questionnaire (LIFE-H). The upper extremity assessment included grip strength (Jamar dynamometer), lateral pinch strength (pinch gauge), gross dexterity (Box and Block Test) and fine dexterity (Purdue Pegboard Test). Correlations with the LIFE-H item "housing" were stronger for grip and lateral strength (r = 0.62; 0.61). When difficulties were present in "housing", the cut-off score associated with lateral pinch strength was 4.8 kg (sensitivity: 75.6%; specificity: 79.2%). Grip strength presented cut-off scores that clinically differed by gender. In conclusion, potential indicator of needs related to household activities for rehabilitation services with valid assessment tools were developed for people with DM1 who experience difficulties in housing-related activities. These criteria will assist health professionals in their attempt to refer DM1 patients to rehabilitation services at the appropriate time.