CONCLUSIONS: The prevalence of symptoms compatible with ASD (and higher CARS scores) and OCD among patients with dystrophinopathies are related to the position of the causal variant in DMD and the consequent involvement of cerebral isoforms, indicating an important genotype-phenotype correlation. The diagnosis of a patient with a genotype that affects these isoforms indicates the need for neuropsychological assessment and multidisciplinary follow-up.
