ArticleTherapeutic advances in neurological disorders2023
Longitudinal developmental profile of newborns and toddlers treated for spinal muscular atrophy.
Article in Therapeutic advances in neurological disorders, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland-part I-systematic literature review and existing evidence.Journal of neuromuscular diseases · 2026Pooled it
- Ten years of disease-modifying therapy in spinal muscular atrophy: lessons learned and future directions.Nature reviews. Neurology · 2026Review
- Incomplete cerebellar circuit restoration limits functional recovery following SMN therapy in severe spinal muscular atrophy.bioRxiv : the preprint server for biology · 2026Article
- Strengthening adaptive functioning and participation in the contemporary spinal muscular atrophy paradigm: clinical perspectives and future directions.World journal of pediatrics : WJP · 2026Review
- Expressive language and social communication abilities in children with spinal muscular atrophy type 1.Developmental medicine and child neurology · 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
- Cerebellar pathology contributes to neurodevelopmental deficits in spinal muscular atrophy.Brain : a journal of neurology · 2026Article
- Cognitive and neurodevelopmental outcomes in spinal muscular atrophy: a scoping review.Frontiers in cellular neuroscience · 2026Review
- Cerebellar defects are a primary pathology in mouse models of spinal muscular atrophy.Brain pathology (Zurich, Switzerland) · 2025Article
- Prenatal SMN-dependent defects in translation uncover reversible primary cilia phenotypes in spinal muscular atrophy.JCI insight · 2025Article
- Prenatal treatment of spinal muscular atrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Neurodevelopmental screening in children with early-onset spinal muscular atrophy in the treatment era: a strengths-based cohort study.Brain communications · 2025Article
- Newborn screening programs for spinal muscular atrophy worldwide in 2023.Journal of neuromuscular diseases · 2024Article
- Home mechanical ventilation in children: evolving indications in an era of new treatment options.European respiratory review : an official journal of the European Respiratory Society · 2024Review
- Systematic Review of Presymptomatic Treatment for Spinal Muscular Atrophy.International journal of neonatal screening · 2024Review
- Impact of Disease Severity and Disease-Modifying Therapies on Myostatin Levels in SMA Patients.International journal of molecular sciences · 2024Article
- Cognition and communication in patients with spinal muscular atrophy: A systematic review.Heliyon · 2024Article
- Review
- Brain magnetic resonance imaging of patients with spinal muscular atrophy type 2 and 3.NeuroImage. Clinical · 2024Article
- Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening.Journal of neuromuscular diseases · 2024Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Spinal muscular atrophy (SMA) results from a loss-of-function mutation in the Objective: The objective of the study was to assess longitudinally the psychomotor development of patients with SMA1 treated after the symptom onset and of patients treated presymptomatically. Design: Longitudinal, monocentric, noninterventional, prospective study. Methods: Our study included 11 SMA1 patients and seven presymptomatic SMA patients. The SMA1 patients were treated with an approved drug beginning after onset of symptoms; treatment for the presymptomatic patients was begun before symptom onset. They were longitudinally evaluated between September 2018 and January 2022 using the Bayley Scales of Infant and Toddler Development™ - Third Edition. Results: At each time point, all patients treated presymptomatically scored above those treated postsymptomatically on the motor scale. The cognitive scores of six of the seven patients treated presymptomatically were average; one patient was in the low average range. In the 11 postsymptomatically treated patients, four scored either in the low average or the abnormal range on the cognitive scale, but a positive trend was observed during the follow-up. Conclusion: A significant proportion of patients treated postsymptomatically scored below average on cognitive and communicative scales, with most significant concerns raised about the age of 1 year. Our study indicates that intellectual development should be considered as an important outcome in treated SMA1 patients. Cognitive and communicative evaluations should be performed as part of standard of care, and guidance should be provided to parents for optimal stimulation.
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