The role of genetic research in autism treatment Phelan-McDermid syndrome: Sasha’s story

Abstract

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