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Record W2966524622 · doi:10.1002/ajmg.c.31726

Muscle and joint function in children living with arthrogryposis multiplex congenita: A scoping review

2019· review· en· W2966524622 on OpenAlexaff
Marianne Gagnon, Kevin Caporuscio, Louis‐Nicolas Veilleux, Reggie C. Hamdy, Noémi Dahan‐Oliel

Bibliographic record

VenueAmerican Journal of Medical Genetics Part C Seminars in Medical Genetics · 2019
Typereview
Languageen
FieldMedicine
TopicNeurogenetic and Muscular Disorders Research
Canadian institutionsMcGill UniversityShriners Hospitals for Children - Canada
Fundersnot available
KeywordsArthrogryposis multiplex congenitaMuscle contractureMedicineJoint ContractureArthrogryposisRehabilitationPsychological interventionPhysical medicine and rehabilitationContracturePhysical therapyRange of motionConservative treatmentSurgery

Abstract

fetched live from OpenAlex

Arthrogryposis multiplex congenita (AMC) is characterized by congenital joint contractures present in two or more body areas. Lack of fetal movement is the underlying cause of AMC, which can lead to abnormal connective tissue surrounding the joint resulting in stiffness and muscle atrophy. Treatment aims at improving function and mobility through surgical and/or conservative interventions. A scoping review was conducted to explore the existing knowledge of the evaluation and treatment of muscle and joint function in children with AMC. Three search engines were included and identified 1,271 articles. Eighty-seven studies met the selection criteria and were included in this review. All included studies focused on joints, 30 of which also assessed the muscle. Assessment most often included the position of the contractures (n = 72), as well as range of motion (n = 66). Interventions to improve muscle and joint function were reported in 82 of the 87 papers and included surgery (n = 70) and conservative interventions (n = 74) with bony surgery (i.e., osteotomy) the most common surgery and rehabilitation the most common conservative intervention. Recurrences of contractures were mentioned in 46 of the 68 studies providing a follow-up. Future studies should use validated measures to assess muscle and joint function, and conservative interventions should be described in greater detail and to include a longer follow-up.

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)0.004
metaresearch head score (Gemma)0.003
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow), Research integrity
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Other design · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.967
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0040.003
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0050.001
Bibliometrics0.0010.001
Science and technology studies0.0000.001
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0010.003
Insufficient payload (model declined to judge)0.0010.000

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 head0.043
GPT teacher head0.372
Teacher spread0.329 · 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 designOther design
Domainnot available
GenreReview

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

Citations21
Published2019
Admission routes1
Has abstractyes

Explore more

Same venueAmerican Journal of Medical Genetics Part C Seminars in Medical GeneticsSame topicNeurogenetic and Muscular Disorders ResearchFrench-language works237,207