Association of autistic spectrum disorders with dystrophinopathies

Parents of 85 boys with dystrophinopathies and 51 sibling controls completed the Social Communication Questionnaire, describing child behaviors associated with autism spectrum disorders and a rating of parental stress. Twenty-one boys with dystrophinopathies and no siblings received scores above the cut-point for possible autistic spectrum disorders. Mothers of identified children were given detailed interviews using the Autism Diagnostic Interview-Revised, and 16 boys (about 19% of the sample) met the criteria for autism spectrum disorders. Significant qualitative abnormalities in reciprocal social interactions and communication were evident in all, whereas restricted and repetitive behaviors were generally less pronounced in the group. Moreover, parents of boys with dystrophinopathy and autism spectrum disorders demonstrated significantly higher ratings of stress than parents of boys with dystrophinopathy alone. Increased attention to behavioral concerns associated with dystrophinopathies is necessary to ensure the well-being of the whole family.