While the impact of Duchenne muscular dystrophy (DMD) on patients’ cognition is well known, an Italian team focused specifically on the prevalence of neurodevelopmental disorders in these patients.
A retrospective analysis of the clinical characteristics and psychological assessments of 264 boys (aged six years or older) and men with DMD yielded the following results:
- nearly 40% (103) showed signs of neurodevelopmental disorders: attention deficit disorder with or without hyperactivity (ADHD) in 10%, autism spectrum disorder (ASD) in 4%, mood disorders (10%), anxiety disorders (6%), obsessive-compulsive disorder (<1%), psychosis (3%), or even a combination of several of these disorders;
- intellectual disability and/or learning difficulties affected 40% (106 patients) of the cohort, either alone (72 patients) or in combination with other neurodevelopmental abnormalities (34 patients);
- only 34% (89) of patients showed no clear signs of brain damage;
- ADHD and ASD are more common during childhood, emotional dysregulation during adolescence, and psychosis and phobias are more severe in adults.
Environmental or psychosocial factors (the burden of the disease, corticosteroid therapy, etc.) are highlighted to explain the onset of ADHD and ASD, as the mutations involved do not appear to have an impact on the risk of developing one of these disorders.
Raising awareness of these disorders among families and healthcare professionals could help improve their diagnosis and treatment.
