ArticleJournal of neuromuscular diseases2024
Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening.
Article in Journal of neuromuscular diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Survival Motor Neuron Protein Requirement-Supply Mismatch in Spinal Muscular Atrophy: A Conceptual Framework.Advances in therapy · 2026Review
- Disease-Modifying Therapies in Spinal Muscular Atrophy: Neurodevelopmental and Behavioral Outcomes in the Treatment Era.Advances in therapy · 2026Review
- 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
- Cerebellar pathology contributes to neurodevelopmental deficits in spinal muscular atrophy.Brain : a journal of neurology · 2026Article
- Real-world evidence on nusinersen treatment of persons with SMA: a focused review.Journal of neuromuscular diseases · 2026Review
- Cognitive and neurodevelopmental outcomes in spinal muscular atrophy: a scoping review.Frontiers in cellular neuroscience · 2026Review
- REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in France.Journal of neuromuscular diseases · 2025Observational
- 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
- Outcomes of early-treated infants with spinal muscular atrophy: A multicenter, retrospective cohort study.Muscle & nerve · 2024Article
- Onasemnogene-abeparvovec administration to premature infants with spinal muscular atrophy.Annals of clinical and translational neurology · 2024Article
- Systematic Review of Presymptomatic Treatment for Spinal Muscular Atrophy.International journal of neonatal screening · 2024Review
- Exploring variability in cognitive functioning in patients with spinal muscular atrophy: a scoping review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- Review
- Brain magnetic resonance imaging of patients with spinal muscular atrophy type 2 and 3.NeuroImage. Clinical · 2024Article
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveNumerous studies have consistently found that reduced SMN protein expression does not severely affect cognitive function in SMA patients. However, the average intelligence quotient of SMA patients has ranged above to below average in different studies. The cognitive development of SMA patients identified through newborn screening remains largely unknown.
methods40 of 47 eligible SMA patients (23 females/17 males) from 39 families identified through newborn screening between January 2018 and December 2020 underwent developmental testing using Bayley III (BSID) after the 2 years of age. The mean age was 29.25 months (23-42 months). 17 patients had 2, 11 patients had 3 and 12 patients had ≥4 copies of SMN2.
resultscognitive scale: mean 94.55 (SD 24.01); language scale: mean 86.09 (SD 26.41); motor scale: 81.28 (SD 28.07). Overall, the cognitive scales show that 14 children were below average, 20 children were average and 6 children were above average. 10/14 children with below average scores had 2 SMN2 copies. The post-hoc pairwise comparisons showed that the cognition main scale was significantly more sensitive to the number of SMN2 copies than the motor main scale of the BSID (MΔ= 10.27, p = 0.014). There is also evidence that cognition scored higher than the language main scale (MΔ= 7.11, p = 0.090).
conclusionThe impaired cognitive development of SMA children with 2 SMN2 copies, despite early initiation of therapy, underscores the critical role of the SMN protein in the early stages of brain development.
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