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

Article type: Research Article

Authors: Raymond, Kateri^{a; b; c; d; *} | Gagnon, Cynthia^{a; b; d} | Levasseur, Mélanie^{a; c}

Affiliations: [a] School of Rehabilitation, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Canada | [b] Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN), Centre intégré universitaire de santé et de services sociaux du Saguenay–Lac-St-Jean, Jonquière, Canada | [c] Research Centre on Aging, Centre intégré universitaire de santé et de services sociaux de l’Estrie – Centre hospitalier universitaire de Sherbrooke, Sherbrooke, Canada | [d] Centre de recherche Charles-Le Moyne (CR-CLM), Centre intégré universitaire de santé et de services sociaux du Saguenay–Lac-St-Jean, Chicoutimi, Canada

Correspondence: [*] Correspondence to: Kateri Raymond, M.O.T., Ph.D., Groupe de recherche interdisciplinaire sur les maladies neuromusculaires, Centre intégré universitaire de santé et de services sociaux du Saguenay–Lac-St-Jean, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Québec, Canada. 150, Place Charles-Le Moyne, Longueuil (Qc), J4K 0A8. Tel.: +1 450 463 1835, poste 61767; Fax: +1 450 463 6593; E-mail: [email protected].

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.

Keywords: Activities of daily living, environment, neuromuscular diseases, qualitative research, rehabilitation, social participation, myotonic dystrophy, social isolation

DOI: 10.3233/JND-210780

Journal: Journal of Neuromuscular Diseases, vol. 9, no. 6, pp. 731-755, 2022