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Record W4410320736 · doi:10.1017/cjn.2025.74

Respiratory and Bulbar Support in Spinal Muscular Atrophy Type I Treated with Nusinersen

2025· article· en· W4410320736 on OpenAlexaffvenueabout
Guillaume Gauvreau, Tarannum Behlim, Pamela Ng, Victoria Hodgkinson, Kathryn Selby, Jean K. Mah, Hanna Kolski, Maria Castro Codesal, Megan Crone, Edward Leung, Kristina Joyal, Craig Campbell, Laura McAdam, Hernán Gonorazky, Hugh J. McMillan, Anna McCormick, Colleen O’Connell, Monique Taillon, Maryam Oskoui

Bibliographic record

VenueCanadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · 2025
Typearticle
Languageen
FieldMedicine
TopicNeurogenetic and Muscular Disorders Research
Canadian institutionsStan Cassidy FoundationDalhousie UniversityMcGill University Health CentreMcGill UniversityUniversity of OttawaUniversity of TorontoWestern UniversityHealth Sciences CentreUniversity of SaskatchewanUniversity of AlbertaUniversity of CalgaryStollery Children's HospitalUniversity of British Columbia
Fundersnot available
KeywordsSpinal muscular atrophyMedicineRespiratory systemPhysical medicine and rehabilitationAtrophyAnatomyPathologyDisease

Abstract

fetched live from OpenAlex

ABSTRACT: Objective: The aim of this study is to assess the evolution of respiratory and feeding support in children with spinal muscular atrophy (SMA) type 1 after 24 months of nusinersen treatment. Methods: Data on SMA type 1 children treated with nusinersen between 2017 and 2023 from the Canadian Neuromuscular Disease Registry were extracted. The cohort was divided into two groups based on age at treatment initiation: ≤2 years and >2 years. The primary outcome was the (i) time to death or needing full-time (≥16 hours/day) ventilation and (ii) time to needing feeding tube support. The secondary outcomes were differences in respiratory and feeding support requirements between the two groups at 24-month follow-up. Results: Thirty-two children were included, and the median age (range) for treatment initiation was 3.2 months (0.8– 13.1) in children who initiated treatment at ≤2 years and 51.2 (28.7–183.8) in those who initiated at >2 years of age. The median age of death or full-time ventilation was 8.6 months (6–22.4) and 10.5 months (4–24) for the two groups, respectively. The median age for initiation of feeding support was 5.1 (1.7–26.4) and 14.5 months (3.9–130.6), respectively. At 24 months ( n = 23), there were no significant differences between the need for respiratory or feeding tube support between the two treatment groups. Conclusion: Most children with SMA type 1 treated with nusinersen across Canada have continued need for respiratory and feeding support over time when initiated after symptom onset.

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)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesScience and technology studies
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.126
Threshold uncertainty score0.997

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0020.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0020.002
Science and technology studies0.0010.006
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0000.001
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 head0.033
GPT teacher head0.305
Teacher spread0.272 · 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.

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

Citations1
Published2025
Admission routes3
Has abstractyes

Explore more

Same venueCanadian Journal of Neurological Sciences / Journal Canadien des Sciences NeurologiquesSame topicNeurogenetic and Muscular Disorders ResearchFrench-language works237,207