Evidence map›Paper›PMID 37813581›Full record

SynthesisNeurology2023

Systematic Literature Review of the Natural History of Spinal Muscular Atrophy: Motor Function, Scoliosis, and Contractures.

Valerie Aponte Ribero, Yasmina Martí, Sarah Batson, Stephen Mitchell, Ksenija Gorni, Nicole Gusset, Maryam Oskoui, Laurent Servais, C Simone Sutherland

Open access · hybridAbstract readSystematic Review
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed, 1 pooled it
11.8field-weighted citation impact, top 1% 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

29 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.

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  15. Scoliosis in spinal muscular atrophy in the era of disease-modifying therapy: a scoping review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 1 institution in 3 countries.

Valerie Aponte RiberoFrom F. Hoffmann-La Roche Ltd. (V.A.R., Y.M., K.G., C.S.S.), Basel, Switzerland; Mtech Access Limited (S.B., S.M.), Bicester, United Kingdom; SMA Europe (N.G.), Freiburg, Germany; SMA Schweiz (N.G.), Heimberg, Switzerland; Departments of Pediatrics and Neurology Neurosurgery (M.O.), McGill University, Montreal, Quebec, Canada; MDUK Oxford Neuromuscular Centre (L.S.), Department of Paediatrics, University of Oxford, United Kingdom; and Division of Child Neurology (L.S.), Centre de Rèfèrences des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège and University of Liège, Belgium.ORCID 0000-0002-0034-0182
Yasmina MartíFrom F. Hoffmann-La Roche Ltd. (V.A.R., Y.M., K.G., C.S.S.), Basel, Switzerland; Mtech Access Limited (S.B., S.M.), Bicester, United Kingdom; SMA Europe (N.G.), Freiburg, Germany; SMA Schweiz (N.G.), Heimberg, Switzerland; Departments of Pediatrics and Neurology Neurosurgery (M.O.), McGill University, Montreal, Quebec, Canada; MDUK Oxford Neuromuscular Centre (L.S.), Department of Paediatrics, University of Oxford, United Kingdom; and Division of Child Neurology (L.S.), Centre de Rèfèrences des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège and University of Liège, Belgium.ORCID 0000-0002-9057-8599
Sarah BatsonFrom F. Hoffmann-La Roche Ltd. (V.A.R., Y.M., K.G., C.S.S.), Basel, Switzerland; Mtech Access Limited (S.B., S.M.), Bicester, United Kingdom; SMA Europe (N.G.), Freiburg, Germany; SMA Schweiz (N.G.), Heimberg, Switzerland; Departments of Pediatrics and Neurology Neurosurgery (M.O.), McGill University, Montreal, Quebec, Canada; MDUK Oxford Neuromuscular Centre (L.S.), Department of Paediatrics, University of Oxford, United Kingdom; and Division of Child Neurology (L.S.), Centre de Rèfèrences des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège and University of Liège, Belgium.ORCID 0009-0006-4062-5648
Stephen MitchellFrom F. Hoffmann-La Roche Ltd. (V.A.R., Y.M., K.G., C.S.S.), Basel, Switzerland; Mtech Access Limited (S.B., S.M.), Bicester, United Kingdom; SMA Europe (N.G.), Freiburg, Germany; SMA Schweiz (N.G.), Heimberg, Switzerland; Departments of Pediatrics and Neurology Neurosurgery (M.O.), McGill University, Montreal, Quebec, Canada; MDUK Oxford Neuromuscular Centre (L.S.), Department of Paediatrics, University of Oxford, United Kingdom; and Division of Child Neurology (L.S.), Centre de Rèfèrences des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège and University of Liège, Belgium.
Ksenija GorniFrom F. Hoffmann-La Roche Ltd. (V.A.R., Y.M., K.G., C.S.S.), Basel, Switzerland; Mtech Access Limited (S.B., S.M.), Bicester, United Kingdom; SMA Europe (N.G.), Freiburg, Germany; SMA Schweiz (N.G.), Heimberg, Switzerland; Departments of Pediatrics and Neurology Neurosurgery (M.O.), McGill University, Montreal, Quebec, Canada; MDUK Oxford Neuromuscular Centre (L.S.), Department of Paediatrics, University of Oxford, United Kingdom; and Division of Child Neurology (L.S.), Centre de Rèfèrences des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège and University of Liège, Belgium.ORCID 0000-0002-7510-1127
Nicole GussetFrom F. Hoffmann-La Roche Ltd. (V.A.R., Y.M., K.G., C.S.S.), Basel, Switzerland; Mtech Access Limited (S.B., S.M.), Bicester, United Kingdom; SMA Europe (N.G.), Freiburg, Germany; SMA Schweiz (N.G.), Heimberg, Switzerland; Departments of Pediatrics and Neurology Neurosurgery (M.O.), McGill University, Montreal, Quebec, Canada; MDUK Oxford Neuromuscular Centre (L.S.), Department of Paediatrics, University of Oxford, United Kingdom; and Division of Child Neurology (L.S.), Centre de Rèfèrences des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège and University of Liège, Belgium.
Maryam OskouiFrom F. Hoffmann-La Roche Ltd. (V.A.R., Y.M., K.G., C.S.S.), Basel, Switzerland; Mtech Access Limited (S.B., S.M.), Bicester, United Kingdom; SMA Europe (N.G.), Freiburg, Germany; SMA Schweiz (N.G.), Heimberg, Switzerland; Departments of Pediatrics and Neurology Neurosurgery (M.O.), McGill University, Montreal, Quebec, Canada; MDUK Oxford Neuromuscular Centre (L.S.), Department of Paediatrics, University of Oxford, United Kingdom; and Division of Child Neurology (L.S.), Centre de Rèfèrences des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège and University of Liège, Belgium.
Laurent ServaisFrom F. Hoffmann-La Roche Ltd. (V.A.R., Y.M., K.G., C.S.S.), Basel, Switzerland; Mtech Access Limited (S.B., S.M.), Bicester, United Kingdom; SMA Europe (N.G.), Freiburg, Germany; SMA Schweiz (N.G.), Heimberg, Switzerland; Departments of Pediatrics and Neurology Neurosurgery (M.O.), McGill University, Montreal, Quebec, Canada; MDUK Oxford Neuromuscular Centre (L.S.), Department of Paediatrics, University of Oxford, United Kingdom; and Division of Child Neurology (L.S.), Centre de Rèfèrences des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège and University of Liège, Belgium.
C Simone SutherlandFrom F. Hoffmann-La Roche Ltd. (V.A.R., Y.M., K.G., C.S.S.), Basel, Switzerland; Mtech Access Limited (S.B., S.M.), Bicester, United Kingdom; SMA Europe (N.G.), Freiburg, Germany; SMA Schweiz (N.G.), Heimberg, Switzerland; Departments of Pediatrics and Neurology Neurosurgery (M.O.), McGill University, Montreal, Quebec, Canada; MDUK Oxford Neuromuscular Centre (L.S.), Department of Paediatrics, University of Oxford, United Kingdom; and Division of Child Neurology (L.S.), Centre de Rèfèrences des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège and University of Liège, Belgium. simone.sutherland@roche.com.ORCID 0000-0001-5488-1374
Roche (Switzerland) · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

objectivesSpinal muscular atrophy (SMA) is a progressive neuromuscular disorder associated with continuous motor function loss and complications, such as scoliosis and contractures. Understanding the natural history of SMA is key to demonstrating the long-term outcomes of SMA treatments. This study reviews the natural history of motor function, scoliosis, and contractures in patients with SMA.

methodsElectronic databases were searched from inception to June 27, 2022 (Embase, MEDLINE, and Evidence-Based Medicine Reviews). Observational studies, case-control studies, cross-sectional studies, and case series reporting on motor function (i.e., sitting, standing, and walking ability), scoliosis, and contracture outcomes in patients with types 1-3 SMA were included. Data on study design, baseline characteristics, and treatment outcomes were extracted. Data sets were generated from studies that reported Kaplan-Meier (KM) curves and pooled to generate overall KM curves.

resultsNinety-three publications were included, of which 68 reported on motor function. Of these, 10 reported KM curves (3 on the probability of sitting in patients with types 2 and 3 SMA and 8 on the probability of walking/ambulation in patients with type 3 SMA). The median time to loss of sitting (95% CI) was 14.5 years (14.1-31.5) for the type 2 SMA sitter population (their maximum ability was independent sitting). The median time to loss of ambulation (95% CI) was 13.4 years (12.5-14.5) for type 3a SMA (disease onset at age younger than 3 years) and 44.2 years (43.0-49.4) for type 3b SMA (disease onset at age 3 years or older). Studies including scoliosis and contracture outcomes mostly reported non-time-to-event data. DISCUSSION: The results demonstrate that a high degree of motor function loss is inevitable, affecting patients of all ages. In addition, data suggest that untreated patients with types 2 and 3 SMA remain at risk of losing motor milestones during late adulthood, and patients with types 3a and 3b SMA are at risk of loss of ambulation over time. These findings support the importance of stabilization of motor function development even at older ages. Natural history data are key for the evaluation of SMA treatments as they contextualize the assessment of long-term outcomes.

Indexed as

ContractureMuscular Atrophy, SpinalScoliosisSpinal Muscular Atrophies of ChildhoodAdultChild, PreschoolCross-Sectional StudiesHumans

Identifiers

PMID37813581
PMCPMC10663020
OpenAlexW4387446198

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.