Multiple Case Study of Changes in Participation of Adults with Myotonic Dystrophy Type 1: Importance of Redesigning Accomplishment and Resilience
Bibliographic record
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.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".