Evidence map›Paper›PMID 41133701›Full record

ArticleInternational journal of neonatal screening2025

Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience.

Emilie Groulx-Boivin, Ariane Belzile, Cam-Tu Émilie Nguyen, Amélie Gauthier, Nicolas Chrestian, Catherine Michaud-Gosselin, Yves Giguère, Marie-Thérèse Berthier, Jean-François Soucy, Anne-Marie Laberge and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of neonatal screening, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Emilie Groulx-BoivinDepartments of Pediatrics and Neurology & Neurosurgery, Montreal Children's Hospital, McGill University, Montreal, QC H4A 3H9, Canada.ORCID 0000-0001-6459-271X
Ariane BelzileResearch Institute, McGill University Health Centre, Montreal, QC H4A 3J1, Canada.ORCID 0009-0000-3891-1254
Cam-Tu Émilie NguyenDepartment of Neurosciences and Pediatrics, Division of Pediatric Neurology, Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.
Amélie GauthierDepartment of Neurosciences and Pediatrics, Division of Pediatric Neurology, Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.
Nicolas ChrestianDepartment of Pediatrics, Division of Pediatric Neurology, Centre Mère-Enfant Soleil, Laval University, Quebec City, QC G1V 0E8, Canada.
Catherine Michaud-GosselinDepartment of Pediatrics, Division of Pediatric Neurology, Centre Mère-Enfant Soleil, Laval University, Quebec City, QC G1V 0E8, Canada.
Yves GiguèreDepartment of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Laval University, Quebec City, QC G1V 0A6, Canada.
Marie-Thérèse BerthierNewborn Screening of Quebec Province, Department of Medical Biology, CHU de Québec-Université Laval, Quebec City, QC G1V 4G2, Canada.
Jean-François SoucyDepartment of Pediatrics, Division of Medical Genetics, Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.
Anne-Marie LabergeDepartment of Pediatrics, Division of Medical Genetics, Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.
Maryam OskouiDepartments of Pediatrics and Neurology & Neurosurgery, Montreal Children's Hospital, McGill University, Montreal, QC H4A 3H9, Canada.ORCID 0000-0003-1042-0108

Funding

Ministère de la Santé et des Services Sociaux (MSSS) 24-AU-00723
6 · The paper itself

Abstract

Clinical trials in spinal muscular atrophy (SMA) have shown that early treatment improves outcomes, prompting inclusion in newborn screening (NBS) programs worldwide. The province of Quebec launched its SMA NBS program in October 2023, with a rapidly progressive implementation. We describe the program's first-year experience, focusing on screening yield, birth prevalence, clinical outcomes, and challenges. In the first year, 6 of 67,933 newborns screened positive for SMA, all subsequently confirmed by diagnostic testing. Of these, 4 newborns (67%) had two

Indexed as

Canadagenetic disordernewborn screeningpediatricSMN2spinal muscular atrophy

Identifiers

PMID41133701
PMCPMC12551087

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.