Neurodevelopmental and mental disorders in children with type I and presymptomatic spinal muscular atrophy

Neurodevelopmental and mental disorders in children with type I and presymptomatic spinal muscular atrophy

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...

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Main Authors: Bianca Buchignani, Giorgia Coratti, Chiara Cutrì, Maria Luisa Scattoni, Marika Pane, Concetta Palermo, Daniela Leone, Roberto De Sanctis, Giulia Stanca, Laura Antonaci, Costanza Cutrona, Maria Carmela Pera, Claudia Brogna, Paola Cristofani, Francesca Fulceri, Giovanni Baranello, Eugenio Mercuri
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-025-12484-8
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Summary: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.
ISSN:2045-2322

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