Evidence map›Paper›PMID 42496455›Full record

ArticleInternational journal of neonatal screening2026

Expanding 5q-SMA Newborn Screening in Latin America: A Brazilian Model for National and Regional Implementation.

Diogo Nani, Rodrigo Holanda Mendonça, Felipe Franco da Graça, Vitoria Regia Pereira Pinheiro, Mirella Carneireiro, Bruna Glaucia Farah, Marcondes Cavalcante França, Carmen Silvia Gabetta, Graziela Polido, Cristina Iwabe and 13 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of neonatal screening, 2026. 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

23 authors.

Diogo NaniNewborn Screening Reference Service, Instituto Jô Clemente (IJC), São Paulo 04040-033, Brazil.ORCID 0000-0001-7282-5982
Rodrigo Holanda MendonçaDepartment of Neurology, Faculty of Medicine, University of São Paulo (FMUSP), São Paulo 05403-010, Brazil.ORCID 0000-0001-7520-3353
Felipe Franco da GraçaDepartment of Neurology, Faculty of Medical Sciences, State University of Campinas (UNICAMP), Campinas 13083-888, Brazil.ORCID 0000-0001-8318-9766
Vitoria Regia Pereira PinheiroIntegrated Center for Oncohematological Research in Childhood, State University of Campinas (CIPOI/UNICAMP), Campinas 13083-894, Brazil.
Mirella CarneireiroNewborn Screening Reference Service, Instituto Jô Clemente (IJC), São Paulo 04040-033, Brazil.
Bruna Glaucia FarahNewborn Screening Reference Service, Instituto Jô Clemente (IJC), São Paulo 04040-033, Brazil.
Marcondes Cavalcante FrançaDepartment of Neurology, Faculty of Medical Sciences, State University of Campinas (UNICAMP), Campinas 13083-888, Brazil.
Carmen Silvia GabettaIntegrated Center for Oncohematological Research in Childhood, State University of Campinas (CIPOI/UNICAMP), Campinas 13083-894, Brazil.
Graziela PolidoDepartment of Neurology, Faculty of Medicine, University of São Paulo (FMUSP), São Paulo 05403-010, Brazil.
Cristina IwabeDepartment of Neurology, Faculty of Medical Sciences, State University of Campinas (UNICAMP), Campinas 13083-888, Brazil.
Frederico MonfardiniHospital Israelita Albert Einstein, São Paulo 05652-900, Brazil.ORCID 0000-0002-9590-5448
Alulin Tácio Quadros Santos Monteiro FonsecaPaulista School of Medicine, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, Brazil.
Paulo BreinisDepartment of Neurology, School of Medicine of ABC (FMABC), Santo André 09060-650, Brazil.
Carmela Maggiuzzo GrindlerSecretaria de Estado da Saúde de São Paulo, São Paulo 01027-000, Brazil.
Carlos Eugenio Fernandez de AndradeSecretaria Municipal da Saúde de São Paulo, São Paulo 01509-020, Brazil.ORCID 0009-0003-5716-1905
Athene Maria de Marco França MauroSecretaria Municipal da Saúde de São Paulo, São Paulo 01509-020, Brazil.
Edmar ZanoteliDepartment of Neurology, Faculty of Medicine, University of São Paulo (FMUSP), São Paulo 05403-010, Brazil.ORCID 0000-0002-4991-6760
Wilson MarquesRibeirão Preto Medical School, University of São Paulo (FMRP-USP), Ribeirão Preto 14049-900, Brazil.
Léa Maria Zanini MacielRibeirão Preto Medical School, University of São Paulo (FMRP-USP), Ribeirão Preto 14049-900, Brazil.
Acary Souza Bulle OliveiraPaulista School of Medicine, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, Brazil.ORCID 0000-0002-6986-4937
Maria da Penha Ananias MoritaHospital de Base, Faculty of Medicine of São José do Rio Preto (FAMERP), São José do Rio Preto 15090-000, Brazil.
Edward YangNewborn Screening Reference Service, Instituto Jô Clemente (IJC), São Paulo 04040-033, Brazil.
Vanessa Luiza Romanelli TavaresNewborn Screening Reference Service, Instituto Jô Clemente (IJC), São Paulo 04040-033, Brazil.ORCID 0000-0002-8845-5952

Funding

Biogen (Brasil) Corporate/private financial supportNovartis (Brasil) Corporate/private financial supportRoche (Brasil) Corporate/private financial support
6 · The paper itself

Abstract

5q spinal muscular atrophy (5q-SMA) is a leading genetic cause of infant mortality. Presymptomatic intervention with disease-modifying therapies significantly improves motor outcomes, but effectiveness depends on early detection through newborn screening (NBS). Despite global 5q-SMA NBS expansion and recent Brazilian federal legislation, regional disparities and a lack of systematic monitoring hinder access to timely diagnosis and care. This study addresses these gaps by evaluating a statewide pilot program in São Paulo. We used multiplex real-time PCR to detect

Indexed as

5-SMABrazilLatin Americanewborn screeningreal-word evidenceSMN1SMN2spinal muscular atrophy

Identifiers

PMID42496455
PMCPMC13397826

What OpenQuestion holds

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Registered trials

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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.