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The role of genetic research in autism treatment Phelan-McDermid syndrome: Sasha’s story 3169
Different syndromes hide under the mask of autism. Each is caused by a certain genetic fault disturbing the development of the brain and leading to symptoms of autism showing. A correctly done genetic diagnosis helps to avoid mistakes when choosing a way of treatment. The focus of this article is Phelan-McDermid Syndrome, an autism spectrum disorder. The clinical example provided is Sasha’s story: how his treatment changed after specifying the diagnosis.
Keywords: autism, autism spectrum disorders, Phelan-McDermid Syndrome, 22q13.3 Deletion Syndrome, genetic research