Patient‐reported disease burden in oculopharyngeal muscular dystrophy
Bibliographic record
Abstract
INTRODUCTION: There is currently little evidence regarding oculopharyngeal muscular dystrophy (OPMD) disease burden reported by patients. In this study we aim to elicit direct patient input regarding OPMD disease burden. METHODS: We conducted semistructured interviews with 25 participants with genetically confirmed OPMD and a wide range of disease duration (15 ± 8 years). Using the Framework Technique, themes and categories were then extracted. RESULTS: Analyses revealed 7 themes (physical impact, mental impact, social impact, perception of progression, treatment perceptions, coping strategies, and access to disease information), encompassing 27 categories of OPMD disease burden. The most frequent categories were related to dysphagia, coping strategies for dysphagia, and impaired mobility. DISCUSSION: This study demonstrates the importance of considering, when providing clinical care, the broad range of coping strategies patients use to deal with OPMD symptoms, especially dysphagia, to properly assess limitations and monitor real disease progression.
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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 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| 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) | 0.002 | 0.001 |
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; both teacher heads agree on what is shown here.
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".