Newborn screening programs for spinal muscular atrophy worldwide in 2023

The data shows a significant increase in the implementation of newborn screening programs since 2021. The experts are still expressing a strong need for equitable access to standard of care for all the patients globally. Despite all setbacks, collaborative efforts have played a crucial role in newborn screening for spinal muscular atrophy implementation and currently 7% of world newborns are being screened, projections indicate an estimated 18% screening rate by 2028.

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Publication Details

Journal
Journal of Neuromuscular Diseases
Published
2024-11-01
DOI
https://doi.org/10.1177/22143602241288095
Citations
22
Primary Topic
Neurogenetic and Muscular Disorders Research
Type
article
Field-Weighted Citation Impact
9.63
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article

Newborn screening programs for spinal muscular atrophy worldwide in 2023

Damjan Osredkar, Tamara Dangouloff, Eva Vrščaj, Laurent Servais
22 citations
Journal of Neuromuscular Diseases
Neurogenetic and Muscular Disorders Research
9.63
article

Newborn screening programs for spinal muscular atrophy worldwide in 2023

Damjan Osredkar, Tamara Dangouloff, Eva Vrščaj, Laurent Servais
article en
22 citations

Abstract

The data shows a significant increase in the implementation of newborn screening programs since 2021. The experts are still expressing a strong need for equitable access to standard of care for all the patients globally. Despite all setbacks, collaborative efforts have played a crucial role in newborn screening for spinal muscular atrophy implementation and currently 7% of world newborns are being screened, projections indicate an estimated 18% screening rate by 2028.

Journal of Neuromuscular DiseasesVol. 11(6)
University of Ljubljana (SI), University of Liège (BE), Ljubljana University Medical Centre (SI), University of Oxford (GB)
Partnerships for the goals
Openalex Percentile: Top 1%
Neurogenetic and Muscular Disorders Research
9.63
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