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Record W3155169104 · doi:10.1186/s13023-021-02054-2

Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay

2021· article· en· W3155169104 on OpenAlexafffundabout
Isabelle Lessard, Raphaël St-Gelais, Luc J. Hébert, Isabelle Côté, Jean Mathieu, Bernard Brais, Cynthia Gagnon

Bibliographic record

VenueOrphanet Journal of Rare Diseases · 2021
Typearticle
Languageen
FieldNeuroscience
TopicGenetic Neurodegenerative Diseases
Canadian institutionsMontreal Neurological Institute and HospitalUniversité LavalMcGill UniversityCentre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-JeanCentre for Interdisciplinary Research in RehabilitationUniversité de Sherbrooke
FundersFonds de Recherche du Québec - SantéBundesministerium für Bildung und ForschungHorizon 2020Canadian Institutes of Health ResearchEuropean CommissionE-Rare
KeywordsPhysical medicine and rehabilitationBalance (ability)SpasticityMedicineRehabilitationAtaxiaPopulationPhysical therapyPsychologyPsychiatry

Abstract

fetched live from OpenAlex

BACKGROUND: This study aimed to describe lower limbs impairments, balance and activity limitations related to indoor mobility in adult walkers with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). RESULTS: Twenty-five participants were recruited with a mean age of 32.2 (± 10.4) years with 45.7% using a walking aid. There is a significant difference between participants with and without a walking aid in terms of lower limbs coordination, balance and mobility. Although participants who walk without a walking aid perform better than the others and they are below predictive or reference values. Despite significant mobility limitations, only mild spasticity and passive range of motion limitations were observed. However, there is a significant difference between unaffected individuals and participants with ARSACS for lower limb muscle cocontraction. CONCLUSIONS: Results show a high level of lower limb impairments, balance and mobility limitation in adults' participants with ARSACS that are still walking, including people not using a walking aid. One of the most original finding is the presence of excessive cocontraction and a relatively mild level of spasticity in the lower limbs muscles. Results of this study better circumscribes the impairments and activities that should be the focus of intervention including rehabilitation in ARSACS.

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 imitation

Not 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.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation 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 score0.978
Threshold uncertainty score0.044

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0010.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0020.000

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 head0.020
GPT teacher head0.250
Teacher spread0.230 · 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 source (direct Gemma or distilled Codex), 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

Citations8
Published2021
Admission routes3
Has abstractyes

Explore more

Same venueOrphanet Journal of Rare DiseasesSame topicGenetic Neurodegenerative DiseasesFrench-language works237,207