NEUROPSYCHOLOGICAL DISORDERS IN DUCHENNE MUSCULAR DYSTROPHY: A CONTEMPORARY PERSPECTIVE ON THE PROBLEM
Keywords:
Duchenne muscular dystrophy, autism spectrum disorder, dystrophin, neurodevelopmental disorders, cognitive deficit, diagnostics, ADOS, M-CHAT, childrenAbstract
Duchenne muscular dystrophy is a severe genetically determined disease in which nervous system involvement extends far beyond neuromuscular pathology. The deficit of dystrophin protein in brain structures creates the neurobiological foundation for a spectrum of neurodevelopmental disorders, among which autistic disturbances occupy a special place. This article analyzes current understanding of the mechanisms of central nervous system involvement in this disease, the frequency and clinical manifestations of autism spectrum disorders, and the methodological challenges of their identification in patients with pronounced motor deficits. The necessity of concurrent application of neuropsychological and functional-motor scales in the diagnostic algorithm is substantiated.
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