Pediatr Neurol. 2025 Nov 4;175:81-87. doi: 10.1016/j.pediatrneurol.2025.10.029. Online ahead of print.
ABSTRACT
BACKGROUND: The use of disease modifying therapies has altered the natural history of spinal muscular atrophy (SMA) leading to changing needs and recognition of multisystem involvement, including cognitive processes. We aimed to investigate the prevalence of, and characterize the behavioral and emotional profiles of children/young people with symptomatic SMA.
METHODS: This single-centre, cross-sectional study of children 4-17 years with symptomatic SMA, assessed emotional and behavioral problems using Strengths and Difficulties Questionnaire (SDQ). Clinical characteristics and parent- and child/young person-reported outcomes (Pediatric Quality of Life neuromuscular module) specific to a neuromuscular disorder were also collated. Fisher’s exact, Kruskal-Wallis, and regression tests were used for analyses.
RESULTS: Forty-eight children were enrolled (median age [interquartile range]: 7.8 years [5.4-11.4]). Total SDQ scores identified difficulties in 17/48 (35.4%) children with SMA, compared to population frequency of 10%; 16/4 8 (33.3%) parents perceived that their child’s emotional/behavioral difficulties were burden on the family, which were chronic for 9/16 (56.3%) and substantial for 10/16 (62.5%), interfering with child’s everyday life. Difficulties within at least one domain of the SDQ were identified in 29/48 (60.4%). Of the cohort, 12/48(25%) had difficulties in the domains of hyperactivity, emotional regulation and conduct. For those with abnormal SDQ scores, there was significant association with lower total Pediatric Quality of Life neuromuscular module scores (odds ratio: 1.09, 95% confidence intervals: 1.02, 1.16, P = 0.009).
CONCLUSIONS: The study found clinically significant level of emotional and behavioral dysregulation in children/young people with SMA in all categories of motor function, and with negative impact on everyday life. In the context of changing phenotypes and function with treatment, these were evident across varying severities of motor function. These findings support routine mental health surveillance as a means of early identification and intervention, alongside the provision of psychological support to optimize health outcomes.
PMID:41289732 | DOI:10.1016/j.pediatrneurol.2025.10.029
