An exploratory qualitative assessment of patient and clinician perspectives on patient-reported outcome measures and disease-modifying therapies in adults with spinal muscular atrophy
Bibliographic record
Abstract
OBJECTIVE: To understand patient, caregiver, and clinician perspectives on patient-reported outcome measures, critical functional domains, and disease-modifying therapies in adult spinal muscular atrophy. DESIGN: An exploratory qualitative single-site study. PATIENTS: Ten adults with spinal muscular atrophy and two clinicians participated in semi-structured interviews. METHODS: Semi-structured interviews were conducted virtually or in person with participants after they completed outcome measures at a routine clinic visit. Two researchers analysed transcripts concurrently using a thematic approach to determine themes. RESULTS: Ten themes were identified among partici-pants. Patient-reported outcome measure preference varied between functional groups and was under-responsive, although it captured meaningful data. Motor stability was most frequently expected with disease-modifying therapy, but participants also reported improved fatigue and respiratory status. CONCLUSION: After considering patient goals, functional status, and preferences, patient-reported outcome measures represent a valuable adjunct to standard clinical and research tools. Optimal selection of patient-reported outcome measures requires careful consideration of multiple patient factors. Collaborative development of modified patient-reported outcome measures may yield a responsive, meaningful, and acceptable tool that can be used across a broad functional spectrum.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.043 | 0.051 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.005 | 0.007 |
| Scholarly communication | 0.003 | 0.004 |
| Open science | 0.002 | 0.006 |
| Research integrity | 0.002 | 0.002 |
| Insufficient payload (model declined to judge) | 0.003 | 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 source (direct Gemma or distilled Codex), 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".