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

• Published in: Scientific reports Vol. 15; no. 1; pp. 26984 - 11
• Main Authors: Buchignani, Bianca, Coratti, Giorgia, Cutrì, Chiara, Scattoni, Maria Luisa, Pane, Marika, Palermo, Concetta, Leone, Daniela, De Sanctis, Roberto, Stanca, Giulia, Antonaci, Laura, Cutrona, Costanza, Pera, Maria Carmela, Brogna, Claudia, Cristofani, Paola, Fulceri, Francesca, Baranello, Giovanni, Mercuri, Eugenio
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 24.07.2025; Nature Publishing Group; Nature Portfolio
• Subjects: 631/378/3919; 692/617/375/374; 692/699/476/1373; Age; Asymptomatic; Atrophy; Autism; Child; Child, Preschool; Disease; Female; Humanities and Social Sciences; Humans; Infant, Newborn; Infants; Intellectual disabilities; Life expectancy; Life span; Magnetic resonance imaging; Male; Medical screening; Mental disorders; Mental Disorders - diagnosis; Mental Disorders - etiology; Motor ability; multidisciplinary; Neonatal Screening; Neurodevelopmental disorders; Neurodevelopmental Disorders - diagnosis; Neurodevelopmental Disorders - etiology; Newborn babies; Questionnaires; Science; Science (multidisciplinary); Spinal Muscular Atrophies of Childhood - complications; Spinal Muscular Atrophies of Childhood - diagnosis; Spinal Muscular Atrophies of Childhood - psychology; Spinal muscular atrophy; Surveys and Questionnaires
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-025-12484-8

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.