Neuropsychological and behavioral outcomes in childhood-onset myotonic dystrophy type 1 through lifespan: a scoping review.

Unlike congenital and adult phenotypes, ChDM1 often involves minimal muscular symptoms with cognitive or behavioral difficulties being the most common early indicator of the disease. These difficulties, often exacerbated by fatigue and slowness, contribute to complex disability scenarios beginning as early as kindergarten but also persisting into early adulthood. This scoping review aims to explore the neuropsychological and behavioral profile associated with ChDM1 throughout the lifespan and seeks to understand how this profile evolves with age. In total, 24 studies were included with 416 individuals identified as having ChDM1. Alongside visuospatial, attentional/executive and social difficulties, neuropsychiatric problems appeared also to be common in this population. Depressive and anxious symptoms were consistently reported in children and adolescents with ChDM1 but appear to be less frequent in adults. The lack of standardized outcome measures for motor, cognitive and behavioral symptoms complicate efforts to determine the true prevalence and severity of impairments across studies. Identifying tools capable of capturing developmental trajectories over a sufficiently long period, from childhood to adulthood, remains a persistent challenge.