Abstract
BACKGROUND: Over the last few years, there has been increasing attention to the involvement of the central nervous system in Duchenne muscular dystrophy (DMD). The aim of this study was to assess the spectrum of neurodevelopmental and mental disorders and possible required intervention in our cohort of 264 boys and adults with DMD. METHODS: We retrospectively analysed clinical notes and psychological assessments, including routinely performed cognitive tests and clinical observations. Intelligence quotients and site of mutations were also noted. RESULTS: 103/264 individuals (39%) had symptoms compatible with one of the following diagnoses: attention deficit hyperactivity disorder (ADHD) (n=26), autism spectrum disorder (ASD) (n=11), depressive mood/disruptive mood dysregulation disorder (n=27), anxiety disorder (n=17), obsessive-compulsive disorder (n=2), psychosis risk syndrome (n=7), and 13 had a more complex phenotype. ADHD and ASD were more frequent in infancy, emotional dysregulation during early adolescence, and psychosis and more severe phobias in older boys and adults. The risk of developing these disorders did not increase with the concomitant involvement of the dystrophin isoforms Dp140 and Dp71. Pharmacological treatment was suggested for 48 individuals but was started only in 24, as it was refused by the remaining 24 families. CONCLUSIONS: Our findings confirm that neurodevelopmental and mental disorders are common in DMD and are likely to have a multifactorial nature. These findings support the need for disease-specific assessments and the need to increase awareness of the possible behavioural and social difficulties among families and healthcare professionals.