Cognitive and Behavioural Profiles of Children and Young People With Facioscapulohumeral Muscular Dystrophy: A Prospective Cohort Study

To investigate the cognitive, emotional, and behavioural profiles of children and young people with facioscapulohumeral muscular dystrophy (FSHD). This prospective cohort study included 21 participants (38% female) aged 6.2-19.5 years (mean = 14.33, SD = 4.1) with a genetically confirmed, childhood FSHD diagnosis (early-onset: 52.4%, classic onset: 47.6%). Assessments included IQ testing, executive function tasks, and affect recognition. Parents reported on behaviour, psychological symptoms, and adaptive function; participants reported on anxiety. Overall IQ scores were within average range, but verbal comprehension was lower than expected. Difficulties with affect recognition were observed and elevated anxiety and social difficulties were reported by both parents and participants. Children with early-onset FSHD had more verbal and behavioural symptoms than those with classic-onset FSHD. Children and young people with FSHD may be at risk for difficulties in verbal reasoning, emotion recognition, and psychological well-being, highlighting the need for routine monitoring and targeted supports.