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

Abstract

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.