ArticleScientific reports2025
Neurodevelopmental and mental disorders in children with type I and presymptomatic spinal muscular atrophy.
Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Ten years of disease-modifying therapy in spinal muscular atrophy: lessons learned and future directions.Nature reviews. Neurology · 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
- Orofacial dysfunction in persons with congenital or childhood-onset neuromuscular disorders.Journal of neuromuscular diseases · 2026Article
- Adaptive functioning in school-aged children with spinal muscular atrophy in the treatment era: a non-randomised cohort study.The Lancet regional health. Western Pacific · 2026Article
- Cognitive and neurodevelopmental outcomes in spinal muscular atrophy: a scoping review.Frontiers in cellular neuroscience · 2026Review
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Authors and funding
17 authors.
Funding
Abstract
The advent of disease modifying therapies in spinal muscular atrophy (SMA) has increased life expectancy but also raising new challenges. We aimed to explore the neurobehavioral profile in SMA type I subjects and in those identified by newborn screening (NBS). Behavioral assessment included screening questionnaires (strengths and difficulties questionnaire (SDQ), social communication questionnaire (SCQ), and sensory profile 2 (SP2)), neurobehavioral observation, CARS2 and DSM-5 criteria. The cohort included thirty-one children (25 type I and 6 NBS) aged 2-10 years. On SDQ prosocial scale, 14/31 showed borderline or abnormal results. 6/14 had borderline scores at the SCQ questionnaire, while none had abnormal scores. Neurobehavioral observation suggested the presence of ASD in 3/31, confirmed by CARS2 and DSM-5 criteria. 5/31 showed other behavioral disorders. Our findings suggest that autism is present in SMA infants in a percentage slightly higher than in the general population. Other neurobehavioral difficulties are less frequent. Our study highlighted the challenges to select appropriate tools in infants with limited mobility and the need for a clear diagnostic pathway, starting with screening questionnaires followed by more appropriate diagnostic tools to reduce the number of false positive results.
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