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Record W4410311981 · doi:10.1177/22143602251336076

Thinking outside the box: A re-evaluation of Canadian recommended outcome measures in adult spinal muscular atrophy – report of a national consensus workshop

2025· article· en· W4410311981 on OpenAlexaffabout
Colleen O’Connell, Xavier Rodrigue, Victoria Hodgkinson, Jeremy Slayter, Alberto Alemán, Aaron Izenberg, Beth L Knowles, Hanns Lochmüller, Marianne Nury, Erin O’Ferrall, Homira Osman, Kerri Schellenberg, Christen Shoesmith, Christine Stables, Susi Vander Wyk, G Westbury

Bibliographic record

VenueJournal of Neuromuscular Diseases · 2025
Typearticle
Languageen
FieldMedicine
TopicNeurogenetic and Muscular Disorders Research
Canadian institutionsUniversity of British ColumbiaWestern UniversityNative Mental Health Association of CanadaUniversity of SaskatchewanMuscular Dystrophy CanadaOttawa HospitalHealth Sciences CentreSunnybrook Health Science CentreMcGill UniversityUniversity of OttawaChildren's Hospital of Eastern OntarioUniversity of CalgaryMontreal Neurological Institute and HospitalCentre for Interdisciplinary Research in RehabilitationHorizon Health NetworkUniversité LavalDalhousie University
Fundersnot available
KeywordsSMA*MedicineDelphi methodSpinal muscular atrophyPhysical therapyPatient-reported outcomePhysical medicine and rehabilitationQuality of life (healthcare)VotingOutcomes researchMEDLINEFamily medicineDiseaseAlternative medicineNursingPathology

Abstract

fetched live from OpenAlex

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.

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 distilled prediction

Teacher imitation

Not 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.

metaresearch head score (Codex)0.002
metaresearch head score (Gemma)0.008
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.078
Threshold uncertainty score0.999

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0020.008
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0020.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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.

Opus teacher head0.091
GPT teacher head0.382
Teacher spread0.291 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

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".

Quick stats

Citations4
Published2025
Admission routes2
Has abstractyes

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