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

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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.

General Information

Keywords: autism, autism spectrum disorders, Phelan-McDermid Syndrome, 22q13.3 Deletion Syndrome, genetic research

Article type: scientific article

DOI: https://doi.org/10.17759/autdd.2016140202

For citation: Solovyeva N.V., Kitsul N.S. The role of genetic research in autism treatment Phelan-McDermid syndrome: Sasha’s story . Autizm i narusheniya razvitiya = Autism and Developmental Disorders, 2016. Vol. 14, no. 2, pp. 13–19. DOI: 10.17759/autdd.2016140202. (In Russ., аbstr. in Engl.)

Information About the Authors

N. V. Solovyeva, psychiatrist, the Scientific center for personalized psychiatry. Moscow, Russia, Moscow, Russia, e-mail: drsnv@yandex.ru

Natalya S. Kitsul, Head, the Rehabilitation Center for Children and Adolescents with Disabilities (RC DPOV) "Dobrynya" Kursk NPP, Kurchatov, Russia, e-mail: rc-deti@yandex.ru

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