ReviewInternational journal of neonatal screening2024
Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy.
Review in International journal of neonatal screening, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled 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.
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.
Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Economic evidence on the cost-effectiveness of newborn screening for spinal muscular atrophy: a systematic review.European journal of pediatrics · 2025Pooled it
- Analytical Study Showing a False-Negative Limitation of Deletion-Based Newborn Screening for Spinal Muscular Atrophy Using a Compound HeterozygousInternational journal of neonatal screening · 2026Article
- SMN1 mutation spectrum and functional analysis of novel SMN1 variants in a Chinese spinal muscular atrophy cohort.Journal of human genetics · 2026Article
- Improving Severe Combined Immunodeficiency and Cystic Fibrosis Newborn Screening by Replacing Current Tests with First-Tier Targeted Gene Sequencing.International journal of neonatal screening · 2026Article
- Newborn Screening for Spinal Muscular Atrophy in the Republic of Moldova: A Feasibility Study and First Steps.International journal of neonatal screening · 2026Article
- Acceptability of newborn screening for spinal muscular atrophy: views of the UK public, screened families, health professionals and the SMA community.European journal of human genetics : EJHG · 2026Article
- Pre-symptomatic treatment of spinal muscular atrophy: a strategic shift from concept to clinical practice.World journal of pediatrics : WJP · 2026Article
- Clinical Experience of Timing Treatment in Newborns with Spinal Muscular Atrophy: A Call for Standardized Screening Practices in Italy.International journal of neonatal screening · 2026Article
- A historical perspective on the development of antisense oligonucleotide treatments for Duchenne muscular dystrophy and spinal muscular atrophy.Journal of neuromuscular diseases · 2026Review
- Trends in the Timeliness of Spinal Muscular Atrophy Detection in US Infants, 2016-2023.International journal of neonatal screening · 2026Article
- Newborn Screening for Spinal Muscular Atrophy in the UK: Use of Modelling to Identify Priorities for Ongoing Evaluation.International journal of neonatal screening · 2026Article
- Neonatal screening for spinal muscular atrophy: Report of a multicenter study in Brazil.Genetics and molecular biology · 2026Article
- Therapeutic advances in spinal muscular atrophy: a review of clinical, safety, and economic considerations.Frontiers in pharmacology · 2026Review
- Celebrating 50 Years of Nationwide Newborn Screening in Hungary-Review, Current Situation, and Future Directions.International journal of neonatal screening · 2025Review
- Turkish men's experiences of positive SMA carrier results: a qualitative study within a gendered screening framework.BMC public health · 2025Article
- Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience.International journal of neonatal screening · 2025Article
- Newborn Screening Program for Spinal Muscular Atrophy in the Campania Region (Italy): Current Limitations and Potential Perspectives.International journal of neonatal screening · 2025Article
- Eosinophilic Esophagitis in a 3-Year-Old Girl with Spinal Muscular Atrophy Type 1: The First Reported Case.Pediatric reports · 2025Article
- Incidence of HomozygousGenes · 2025Article
- Quality of Life, Caregiver Burden, and Symptoms of Depression and Anxiety in Parents of Children with Spinal Muscular Atrophy: A Comparison with Healthy Controls.Medicina (Kaunas, Lithuania) · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
Abstract
Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder causing the degeneration of motor neurons in the spinal cord. Recent studies suggest greater effectiveness of treatment in the presymptomatic stage. This systematic review synthesises findings from 37 studies (and 3 overviews) of newborn screening for SMA published up to November 2023 across 17 countries to understand the methodologies used; test accuracy performance; and timing, logistics and feasibility of screening. All studies screened for the homozygous deletion of
Indexed as
Identifiers
What Socratic holds
Registered trials
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 Socratic graph.