P.2.13 Neuropsychiatric comorbidities in Duchenne Muscular Dystrophy

Abstract

Amongst boys with DMD, IQ is on average ∼1 SD below the general population mean, with working memory impairments being especially prominent. We previously described that 23% of DMD boys present with clinically significant traits of Autistic Spectrum Disorder (ASD) and 35% of DMD boys meet the criteria for ADHD. Other comorbid psychopathologies include internalising (27%) and externalising (15%) behavioural problems. The objectives of our study were to describe to what extent neuropsychiatric comorbidities coexist in the same individuals, and to describe the bearing that the genotype has on the neuropsychiatric phenotype in DMD. We recruited 98 DMD boys (70 in GOSH-UK and 28 in Italy), who underwent standardised neuropsychological assessments including: WISC-IV, 3Di, Conners-3 Questionnaires, and CBCL. We report that 75% of children with ASD also meet criteria for ADHD; of the DMD boys with ASD 53% had externalising behavioural problems. Half of the boys with ADHD also met criteria for ASD, externalising and internalising behavioural problems. There was a significant coexistence of psychiatric comorbidities in boys with mutations disrupting the shorter C-terminus dystrophin isoforms (Dp260, Dp140, Dp116, Dp71) when compared with mutations at the 5′ end of the gene (p = 0.02). We demonstrated that neurodevelopmental disorders are highly prevalent in DMD. Boys with mutations downstream of exon 30 are at a higher risk of suffering from coexistence of neuropsychiatric symptoms, more commonly than what observed in the general psychiatric population. These findings suggest that DMD may have a distinctive neurodevelopmental profile, requiring targeted support.