Peer-reviewed article
Neuropsychological and Emotional-Behavioral Profiles in Pediatric Duchenne Muscular Dystrophy: A Single-Center Clinical Study.
D'Alessandro R, Re F, Vacchetti M, Sertori F, Arletti L et al. ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This study examined neuropsychological and emotional-behavioral profiles in 21 children with Duchenne muscular dystrophy (DMD), a progressive genetic muscle disorder. Researchers used psychological assessments to screen for attention, autism-spectrum, and emotional difficulties alongside cognitive testing. The study found that children with DMD commonly experience emotional dysregulation and internalizing problems, with about half of those tested showing below-average intelligence scores. The findings suggest that comprehensive neuropsychiatric screening could improve care for children with this condition.
Key points
- 15% of children showed clinical-range attention difficulties, predominantly inattentive type
- 35% scored above the normative cutoff for autism-spectrum features, but only 10% met clinical range
- Internalizing problems and emotional dysregulation were the predominant emotional-behavioral difficulties
- 45.5% (5 of 11 children with data) had Full-Scale Intelligence Quotient below 85
- Four of five children with low IQ showed the Dp140-/Dp71+ brain dystrophin isoform expression pattern
Limitations
This is a small single-center cross-sectional study with only 21 participants and incomplete data on some measures, so findings cannot be generalized to all children with DMD. The study is descriptive and does not test interventions or causal mechanisms, only screening outcomes at one point in time.
Abstract
Background: Duchenne muscular dystrophy (DMD) is an X-linked disorder caused by out-of-frame variants in the DMD gene, resulting in dystrophin deficiency and progressive muscle degeneration. Beyond motor involvement, evidence links DMD to cognitive impairment and an emotional-behavioral (EB) burden, potentially related to the altered expression of brain dystrophin isoforms (Dp71, Dp140, Dp427). Objectives: To screen for major neurodevelopmental, cognitive and/or EB difficulties in a monocentric cohort of children with DMD. Methods: This cross-sectional study included 21 children with DMD. Neuropsychiatric difficulties were assessed using a multimodal psychometric battery. Cognitive, neurodevelopmental and genetic data were retrospectively collected and analyzed. Results: In the cohort, attention-deficit/hyperactivity disorder (ADHD)-related findings were predominantly inattentive, with 3/20 children (15.0%) scoring within the clinical range on at least one inattention subscale. For measures assessing autism spectrum disorder (ASD)-related features, scores above the normative cutoff emerged in 7/20 children (35.0%), while only 2/20 (10.0%) scored within the clinical range. Internalizing problems represented the predominant EB difficulties, and emotional dysregulation (ED) emerged as a plausible area of vulnerability in the cohort. Among the 11 of 21 children with available Full-Scale Intelligence Quotient (FSIQ) data, five (45.5%) had an FSIQ below 85. Of these, four of five (80.0%) presented the predicted Dp140-/Dp71+ brain dystrophin isoform expression pattern, whereas one of five (20.0%) presented the Dp140+/Dp71+ pattern. Conclusions: Children with DMD showed heterogeneous neuropsychiatric and cognitive features in the employed screening battery. These preliminary findings, if confirmed in larger cohorts, support the potential of a broader neuropsychiatric screening assessment to optimize care pathways.