ArticleNeurology. Clinical practice2024
Spinal Muscular Atrophy Update in Best Practices: Recommendations for Diagnosis Considerations.
Erratum issuedAbstract read
In one paragraph
Article in Neurology. Clinical practice, 2024. 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 25 papers.
0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
–field-weighted citation impact
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.
- Guidelines addressing Motor Neurone Disease (MND): a scoping review.Neurodegenerative disease management · 2026Article
- Impact of Early Intervention on Motor Milestone Achievement in Spinal Muscular Atrophy: Insights from Cure SMA Survey Data.Neurology and therapy · 2026Article
- From Survival to Participation: Early Powered Mobility in the New Era of Spinal Muscular Atrophy Type I.Journal of clinical medicine · 2026Review
- Ceftriaxone-ResistantClinical case reports · 2026Article
- Economic Burden of Spinal Muscular Atrophy in Singapore: A Societal Perspective Cost-of-Illness Study.PharmacoEconomics - open · 2026Article
- Insights From Wise Warriors: A Needs Assessment and Preventive Parenting Program Recommendations From Parents of Children With Spinal Muscular Atrophy.Journal of child neurology · 2026Article
- Patient-reported clinical characteristics and healthcare utilization in Spinal Muscular Atrophy (SMA): a cross-sectional study from Iran.Orphanet journal of rare diseases · 2026Article
- Disease modifying therapies for children with spinal muscular atrophy - parents' experiences of hopes, grief and need for rehabilitation for their child.Journal of neuromuscular diseases · 2026Article
- State of the art: Pregnancy in spinal muscular atrophy in the treatment era.Journal of neuromuscular diseases · 2026Review
- Rehabilitation research in spinal muscular atrophy: a call to action.Journal of neuromuscular diseases · 2026Review
- 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 detailed analysis of the effects of body parameters on motor function and fine motor skills measured at one-year intervals in patients with spinal muscular atrophy.BMC pediatrics · 2026Article
- Rehabilitation in Neuromuscular Diseases: Best Turkish Practice Recommendations by Multidisciplinary Experts.Acta neurologica Belgica · 2026Review
- Locked nucleic acid (LNA) based PCR approach for the diagnosis and screening of spinal muscular atrophy.The Indian journal of medical research · 2026Article
- Review
- Body Weight and Range of Motion as Predictors of Trunk Asymmetry in Children With Spinal Muscular Atrophy: A Prospective Functional Assessment.Medical science monitor : international medical journal of experimental and clinical research · 2025Article
- Advancing personalized spinal muscular atrophy care: matching the right biomarker to the right patient at the right time.Journal of neurology · 2025Review
- Review
- Decoding Neuromuscular Disorders: The Complex Role of Genetic and Epigenetic Regulators.Genes · 2025Review
Corrections and comments
- Erratum issued
Authors and funding
16 authors.
Mary SchrothCure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain.ORCID https://orcid.org/0000-0002-1720-4849
Jennifer DeansCure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain.ORCID https://orcid.org/0009-0008-7696-9199
Kapil AryaCure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain.ORCID https://orcid.org/0000-0002-4526-2210
Diana CastroCure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain.ORCID https://orcid.org/0000-0001-9008-0208
Darryl C De VivoCure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain.
Melissa A GibbonsCure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain.ORCID https://orcid.org/0000-0002-4555-9663
Cristian IonitaCure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain.ORCID https://orcid.org/0000-0001-7931-9433
Nancy L KuntzCure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain.ORCID https://orcid.org/0000-0003-2253-5156
Arpita LakhotiaCure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain.ORCID https://orcid.org/0000-0003-2948-4531
Erin Neil KnierbeinCure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain.ORCID https://orcid.org/0000-0002-8198-4966
Mariacristina ScotoCure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain.ORCID https://orcid.org/0000-0002-7320-6443
Thomas SejersenCure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain.ORCID https://orcid.org/0000-0001-5961-7097
Laurent ServaisCure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain.ORCID https://orcid.org/0000-0001-9270-4061
Cuixia TianCure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain.ORCID https://orcid.org/0000-0003-2010-8142
Megan A WaldropCure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain.ORCID https://orcid.org/0000-0001-9621-8319
Juan F Vázquez-CostaCure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain.ORCID https://orcid.org/0000-0002-3043-7938
Funding
Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9MNCATS NIH HHS UL1 TR001863
Abstract
Background and Objectives: Spinal muscular atrophy (SMA) is an autosomal recessive progressive neurodegenerative primary motor neuron disorder caused by biallelic variants of the survival motor neuron 1 ( Methods: A systematic literature review was conducted on SMA NBS. An SMA working group of American and European health care providers developed recommendations through a modified Delphi technique with serial surveys and virtual meeting feedback on SMA diagnosis to fill information gaps for topics with limited evidence. A community working group of an individual with SMA and caregivers provided insight and perspective on SMA diagnosis and support through a virtual meeting to guide recommendations. Results: The health care provider working group achieved consensus that SMA NBS is essential to include in the updated best practice for SMA diagnosis (100%). Recommendations for the following are described: characterizing NBS-identified infants before treatment; minimum recommendations for starting or offering SMA NBS in a state or country; recommendations for activities and services to be provided by an SMA specialty care center accepting SMA NBS referrals; and recommendations for partnership with individuals with SMA and caregivers to support NBS-identified infants and their caregivers. Limited data are available to advance efficient diagnosis of adult-onset SMA. Discussion: Updating best practice recommendations for SMA diagnosis to include SMA NBS implementation is essential to advancing care for individuals with SMA. In addition to testing, processes for the efficient management of positive newborn screen with access to knowledgeable and skilled health care providers and access to treatment options is critical to successful early diagnosis. Additional evidence is required to improve adult-onset SMA diagnosis.
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390
Registered trials
None linked
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.