ReviewSeminars in pediatric neurology2021
Spinal Muscular Atrophy Treatments, Newborn Screening, and the Creation of a Neurogenetics Urgency.
Review in Seminars in pediatric neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 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
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- Spinal Muscular Atrophy Treatment in Patients Identified by Newborn Screening-A Systematic Review.Genes · 2023Pooled it
- A Single-Tube Nested PCR Method forMethods and protocols · 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
- Spinal Muscular Atrophy in Colombia: Nationwide Incidence, Demographic Distribution, and Healthcare Challenges.Cureus · 2025Article
- Advancing personalized spinal muscular atrophy care: matching the right biomarker to the right patient at the right time.Journal of neurology · 2025Review
- Newborn Screening Program for Spinal Muscular Atrophy in the Campania Region (Italy): Current Limitations and Potential Perspectives.International journal of neonatal screening · 2025Article
- Systematic analysis of genetic and phenotypic characteristics reveals antisense oligonucleotide therapy potential for one-third of neurodevelopmental disorders.Genome medicine · 2025Article
- Patient-reported assessment of bulbar function in spinal muscular atrophy (SMA): Validation of a self-report scale.Journal of neuromuscular diseases · 2025Article
- Real-world outcomes of spinal muscular atrophy treatment with onasemnogene abeparvovec in Croatia: a comprehensive case series and literature review.Frontiers in medicine · 2025Article
- Spinal muscular atrophy in the era of newborn screening: how the classification could change.Frontiers in neurology · 2025Review
- Why should a 5q spinal muscular atrophy neonatal screening program be started?Arquivos de neuro-psiquiatria · 2024Review
- Assessment of Barriers to Referral and Appointment Wait Times for the Evaluation of Spinal Muscular Atrophy (SMA): Findings from a Web-Based Physician Survey.Neurology and therapy · 2024Article
- Assisting the implementation of screening for type 1 diabetes by using artificial intelligence on publicly available data.Diabetologia · 2024Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening.International journal of neonatal screening · 2024Article
- The Importance of Early Treatment of Inherited Neuromuscular Conditions.Journal of neuromuscular diseases · 2024Review
- What could be the function of the spinal muscular atrophy-causing protein SMN in macrophages?Frontiers in immunology · 2024Review
- Molecular Mechanisms of Medicinal PlantCurrent pharmaceutical design · 2024Article
- Genetic Neuromuscular Disorders and Health Services Access, Utilization, and Needs in Zambia.Pediatric neurology · 2023Article
- Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies.International journal of molecular sciences · 2023Review
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder characterized by loss of motor neurons leading to muscle weakness and atrophy. The United States' Food and Drug Administration's (FDA) approval of nusinersen, onasemnogene abeparvovec, and risdiplam for SMA has challenged existing treatment paradigms with multiple treatment options, a new natural history of the disease, and an emerging understanding of the importance of early and pre-symptomatic treatment. The profound impact of early, pre-symptomatic treatment has led to the creation of a neurogenetics urgency for newly identified patients with SMA, a novel problem for neurologists more accustomed to a more methodical approach to diagnosis and care. Implementation of newborn screening programs has helped facilitate early diagnosis and treatment, but challenges remain in overcoming administrative and procedural hurdles that can lead to treatment delays. Herein I discuss 2 cases that highlight the importance of early treatment, as well as gaps in our understanding of the progression of SMA in pre-symptomatic infants.
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What OpenQuestion 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 OpenQuestion graph.