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Record W4410586114 · doi:10.1177/22143602251336862

Systematic review for economic evaluations on newborn screening for spinal muscular atrophy

2025· review· en· W4410586114 on OpenAlexaff
Corrina Poon, Pranesh Chakraborty, Maryam Oskoui, Hugh J. McMillan, Alex MacKenzie, Jeff Round

Bibliographic record

VenueJournal of Neuromuscular Diseases · 2025
Typereview
Languageen
FieldMedicine
TopicNeurogenetic and Muscular Disorders Research
Canadian institutionsMcGill University Health CentreInstitute of Health EconomicsChildren's Hospital of Eastern Ontario
Fundersnot available
KeywordsMedicineEconomic evaluationChecklistPediatricsCost effectivenessNewborn screeningPhysical therapyIntensive care medicinePathologyPsychology

Abstract

fetched live from OpenAlex

ObjectiveEvaluate the quality and cost-effectiveness of economic evaluations of newborn screening (NBS) for Spinal Muscular Atrophy (SMA).MethodsA systematic review was conducted following Cochrane Handbook guidelines and PRISMA-S checklist. From 146 identified papers, 22 were screened for full-text, and 5 were included. Studies were evaluated for quality of reporting and transparency using the CHEERs and QHES checklists. Data was extracted to inform the review.ResultsFour economic evaluations on NBS for SMA with high reporting quality were identified. Each study employed a cost-utility analysis with similar model structures, using a decision tree for screening and a Markov model for treatment outcomes. They each compared NBS with treatment vs clinical diagnosis (no screening) with treatment. Although treatment protocols of each study varied due to differences in the strategies considered and availability of treatment. All studies included a societal perspective in their analysis and considered a lifetime horizon ranging from 30 months to 100 years. Early NBS with treatment was found to be more cost-effective than late treatment in all studies with ICER values ranging from £-117,541 to $714,000 per QALY. The wide range of ICER values are due to assumptions of long-term outcomes which are still largely unknown.ConclusionNBS with treatment was found to be cost-effective by all studies when compared to no NBS and late treatment. Although there is uncertainty around long term outcomes. Future research should focus on collecting long-term efficacy and safety data and evaluating the cost-effectiveness of pre-symptomatic treatment.

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)0.001
metaresearch head score (Gemma)0.004
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Systematic review · Consensus signal: Systematic review
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.380
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.004
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0050.008
Bibliometrics0.0010.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0010.000
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 head0.075
GPT teacher head0.448
Teacher spread0.373 · 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 designSystematic review
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

Citations2
Published2025
Admission routes1
Has abstractyes

Explore more

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