Eur J Paediatr Neurol. 2025 Nov 13;60:24-31. doi: 10.1016/j.ejpn.2025.11.002. Online ahead of print.
ABSTRACT
INTRODUCTION/AIMS: Myotonic dystrophy type 1 (DM1) is the most common adult muscular dystrophy, with variable pediatric presentations. Data on quality of life (QoL) and fatigue in children are limited. This study evaluated clinical features, QoL, and fatigue in pediatric DM1.
MATERIALS AND METHODS: We conducted a cross-sectional study of 24 children with genetically confirmed DM1 followed at a tertiary pediatric neuromuscular clinic between January 2020 and January 2024. Clinical data were retrospectively reviewed, and patients were categorized into congenital, childhood-onset, or juvenile-onset subtypes. QoL and fatigue were assessed using the Pediatric Quality of Life Inventory (PedsQL) Generic Core Scales, Neuromuscular Module, and Multidimensional Fatigue Module, with both parent-proxy and self-reports obtained during routine visits.
RESULTS: The cohort (median age 14 years, IQR:8.5-15.75) comprised congenital (n = 4), childhood-onset (n = 11), and juvenile-onset (n = 9) cases. The most common presenting symptoms were hand stiffness(75 %), weakness(54 %), and learning difficulties(50 %). Intellectual disability or learning difficulties were present in 79 %. Multisystem involvement included cardiac (25 %), respiratory (17 %), gastrointestinal (42 %), and ophthalmologic (42 %) complications. Parent-proxy reports revealed reduced QoL across all subgroups (median total scores 43.5-62.0 vs. ≥80 in healthy children). Fatigue was prominent, with sleep/rest fatigue most impaired, particularly in juvenile-onset patients (median 20.8 vs. 79.2 in childhood-onset, p = 0.007).
DISCUSSION: Children with DM1 exhibit significant multisystem morbidity and marked impairments in QoL and fatigue. Cognitive and behavioral difficulties are prevalent, supporting the need for routine neuropsychological assessment and educational support. Multidisciplinary care should incorporate systematic QoL and fatigue evaluation, with targeted interventions such as sleep management to optimize long-term outcomes.
PMID:41240414 | DOI:10.1016/j.ejpn.2025.11.002
