Thinking outside the box: A re-evaluation of Canadian recommended outcome measures in adult spinal muscular atrophy – report of a national consensus workshop
Bibliographic record
Abstract
BackgroundDisease-modifying therapies for persons with spinal muscular atrophy (SMA) has led to greater need and demand for relevant outcomes assessments. Such tools help monitor disease progression, assess treatment response, and inform clinical management. Canadian SMA clinicians participated in a Delphi process to achieve a 2021 national consensus on recommended outcomes, recognizing future reassessment would be essential given the evolving field and gaps in patient-reported and bulbar measures.ObjectiveDerive updated Canadian consensus of recommended outcome measures for adults with SMA.MethodsA national consensus workshop was held with SMA clinicians, patient/family representatives, research leaders, national registry and advocacy organizations. Clinics and registry experience and data were presented and discussed, utility of current and additional outcomes reviewed. Long and short lists of measures were generated, with voting to derive consensus.ResultsPractical implementation, value of data, and relevance to persons with SMA were key considerations. Consensus was achieved to 'think outside the box', recognizing a spectrum of function and need to choose the right outcome measure for the right patient at the right time. Measures with greater acceptance for adults were selected, and bulbar measures introduced. Eight outcome measures are recommended; 4 motor, 2 respiratory and 2 patient reported domains, with use based on the individuals level of function. The Revised Upper Limb Module was deemed to have broadest applicability except in the strongest and weakest adults. Additional measures are included as optional and exploratory.ConclusionsEmploying measures meaningful for clinicians, researchers, and persons living with SMA is essential to ensuring quality data collection and an engaged patient-centred clinical team. Clinicians should select measures based on the person's functional ability and goals. Building a national community of practice to support clinical and research practice, including standardized outcome measure training, will be a key next step in dissemination and advocacy.
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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 | 0.384 | 0.364 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.002 | 0.006 |
| Bibliometrics | 0.007 | 0.005 |
| Science and technology studies | 0.011 | 0.004 |
| Scholarly communication | 0.008 | 0.005 |
| Open science | 0.016 | 0.009 |
| Research integrity | 0.008 | 0.012 |
| 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; the direct Gemma label and the distilled Codex classifier 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".