ArticleNeuromuscular disorders : NMD2016
Developmental milestones in type I spinal muscular atrophy.
Article in Neuromuscular disorders : NMD, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06599606 (Investigation of the Relationship Between Ultrasonographic Muscle Thickness Measurement and Echogenicity Assessment With Functional Scales in Patients With Spinal Muscular Atrophy), which is not on this map. Cited by 54 papers, 2 of them syntheses that pooled it.
What it found
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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.
Investigation of the Relationship Between Ultrasonographic Muscle Thickness Measurement and Echogenicity Assessment With Functional Scales in Patients With Spinal Muscular Atrophy: An Observational, Cross-Sectional, Case-Control Study
Who cites it
54 citing papers in PubMed, 2 syntheses or guidelines pooled it, 134 citations in OpenAlex.
- A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA).Journal of neuromuscular diseases · 2024Pooled it
- Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis.Orphanet journal of rare diseases · 2021Pooled it
- Beyond Narrative and Tabular Synthesis: Introducing an Approach-Rationale-Note (ARN) Framework for Thematic Evidence Synthesis in Economic Evaluation Reviews.PharmacoEconomics · 2026Article
- Conflicts in Best Interest; Infants with severe neuromuscular disorders presenting to UK Courts.Journal of neuromuscular diseases · 2026Article
- Spinal muscular atrophy: Biology, pathogenesis, and therapeutic advances.Therapeutic advances in neurological disorders · 2026Review
- Bulbar function in children with spinal muscular atrophy type 1 treated with nusinersen.Developmental medicine and child neurology · 2025Observational
- Early Intervention and Speed-to-Effect in Spinal Muscular Atrophy Type 1 Following Onasemnogene Abeparvovec Gene Replacement Therapy: Results of aPost-Hoc Analysis of Pooled Clinical Study Data.Neurology and therapy · 2025Article
- The role and value of real-world evidence in health technology decision-making in France, Germany, Italy, Spain, and the UK: insights on external control arms.International journal of technology assessment in health care · 2025Review
- Administration practices of and adherence to nusinersen in children with spinal muscular atrophy: a multicenter disease registry study in China.BMC pediatrics · 2025Article
- The long-term efficacy of nusinersen on respiratory functions in children with symptomatic spinal muscular atrophy type 1.Turkish journal of medical sciences · 2025Article
- Respiratory outcomes of onasemnogene abeparvovec treatment for spinal muscular atrophy: national real-world cohort study.European journal of pediatrics · 2024Article
- Nusinersen effectiveness and safety in pediatric patients with 5q-spinal muscular atrophy: a multi-center disease registry in China.Journal of neurology · 2024Article
- Functional and Structural Changes in Patients with Spinal Muscular Atrophy Treated in Poland during 12-Month Follow-Up: A Prospective Cohort Study.Journal of clinical medicine · 2024Article
- Motor and neurocognitive profiles of children with symptomatic spinal muscular atrophy type 1 with two copies ofFrontiers in neurology · 2024Article
- Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry.Journal of neuromuscular diseases · 2024Article
- Structured Light Plethysmography for Non-Invasive Assessment of Respiratory Pattern in Spinal Muscular Atrophy Type 1.Journal of clinical medicine · 2023Article
- Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach.Dysphagia · 2023Article
- Significant healthcare burden and life cost of spinal muscular atrophy: real-world data.The European journal of health economics : HEPAC : health economics in prevention and care · 2023Article
- Cerebrospinal Fluid Proteomic Changes after Nusinersen in Patients with Spinal Muscular Atrophy.Journal of clinical medicine · 2023Article
- Clinical and Functional Characteristics of a New Phenotype of SMA Type I among a National Sample of Spanish Children: A Cross-Sectional Study.Children (Basel, Switzerland) · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 7 institutions in 3 countries.
Funding
Abstract
The aim of this retrospective multicentric study was to assess developmental milestones longitudinally in type I SMA infants using the Hammersmith Infant Neurological Examination. Thirty-three type I SMA infants, who classically do not achieve the ability to sit unsupported, were included in the study. Our results confirmed that all patients had a score of 0 out of a scale of 4 on items assessing sitting, rolling, crawling, standing or walking. A score of more than 0 was only achieved in three items: head control (n = 13), kicking (n = 15) and hand grasp (n = 18). In these items, the maximal score achieved was 1 out of a scale of 4, indicating only partial achievement of the milestone. Infants with symptom onset after 6 months of age had longer preservation of a score of 1 when compared to those with onset before 6 months of age. Our results suggest that even when current standards of care are applied, developmental milestones are rarely even partially achieved as part of natural history in type I SMA infants. No infants in this study achieved a major milestone such as rolling over, or sitting independently, which would therefore represent robust outcomes in future interventional trials.
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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.