Evidence map›Paper›PMID 32144995›Full record

ArticleJournal of neuromuscular diseases2020

Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?

Wolfgang Müller-Felber, Katharina Vill, Oliver Schwartz, Dieter Gläser, Uta Nennstiel, Brunhilde Wirth, Siegfried Burggraf, Wulf Röschinger, Marc Becker, Jürgen Durner and 7 more

Erratum issuedOpen access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neuromuscular diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 37 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed, 1 pooled it
5.5field-weighted citation impact, top 3% of its field
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

37 citing papers in PubMed, 1 synthesis or guideline pooled it, 68 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Oral function tests in spinal muscular atrophy: closing the diagnostic gap in severely affected adult patients : A prospective observational study.Journal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur Kieferorthopadie · 2026
    Observational
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  6. Review
  7. Article
  8. Article
  9. Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. Clinical perspectives: Treating spinal muscular atrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2024
    Review
  15. Review
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

17 authors at 6 institutions in 1 country.

Wolfgang Müller-FelberDr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Munich, Germany.
Katharina VillDr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Munich, Germany.
Oliver SchwartzDepartment of Pediatric Neurology, Muenster University Hospital, Münster, Germany.
Dieter GläserGenetikum ®, Center for Human Genetics, Neu-Ulm, Germany.
Uta NennstielScreening Center of the Bavarian Health and Food Safety Authority, Oberschleissheim, Germany.
Brunhilde WirthInstitute of Human Genetics, Center for Molecular Genetics Cologne and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.
Siegfried BurggrafLabor Becker und Kollegen, Munich, Germany.
Wulf RöschingerLabor Becker und Kollegen, Munich, Germany.
Marc BeckerLabor Becker und Kollegen, Munich, Germany.
Jürgen DurnerLabor Becker und Kollegen, Munich, Germany.
Katja EggermannInstitute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Christine MüllerDr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Munich, Germany.
Iris HannibalDr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Munich, Germany.
Bernd OlgemöllerFormerly Labor Becker, Olgemöller und Kollegen, Munich, Germany.
Ulrike ScharaDepartment of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Germany.
Astrid BlaschekDr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Munich, Germany.
Heike KölbelDepartment of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Germany.
Becker Technologies (Germany) · DELudwig-Maximilians-Universität München · DEGenetikum · DERWTH Aachen University · DEUniversity Hospital Münster · DEUniversity of Cologne · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Although the value of newborn screening (NBS) for early detection and treatment opportunity in SMA patients is generally accepted, there is still an ongoing discussion about the best strategy in children with 4 and more copies of the SMN2 gene. This gene is known to be the most important but not the only disease modifier.In our SMA-NBS pilot project in Germany comprising 278,970 infants screened between January 2018 and November 2019 were 38 positive cases with a homozygous SMN1 deletion. 40% of them had 4 or more SMN2 copies. The incidence for homozygous SMN1 deletion was 1 : 7350, which is within the known range of SMA incidence in Germany.Of the 15 SMA children with 4 SMN2 copies, one child developed physical signs of SMA by the age of 8 months. Reanalysis of the SMN2 copy number by a different test method revealed 3 copies. Two children had affected siblings with SMA Type III, who were diagnosed only after detection of the index patient in the NBS. One had a positive family history with an affected aunt (onset of disease at the age of 3 years). Three families were lost to medical follow up; two because of socioeconomic reasons and one to avoid the psychological stress associated with the appointments.Decisions on how to handle patients with 4 SMN2 copies are discussed in the light of the experience gathered from our NBS pilot SMA program.

Indexed as

Neonatal ScreeningFemaleFollow-Up StudiesGermanyHumansInfantInfant, NewbornMaleMuscular Atrophy, SpinalPedigreePilot ProjectsSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 2 ProteinSMN1 protein, humanSMN2 protein, humanSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 2 Proteinnewborn screeningSMN2Spinal muscular atrophysurvival motor neuron gene

Identifiers

PMID32144995
PMCPMC7175938
OpenAlexW3009733292

What OpenQuestion holds

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LicenceCC BY-NC
Read underepoch 390

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.