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  Previous issue (2020. Vol. 18, no. 1)

Autism and Developmental Disorders

Publisher: Moscow State University of Psychology and Education

ISSN (printed version): 1994-1617

ISSN (online): 2413-4317


License: CC BY-NC 4.0

Started in 2003

Published quarterly

Free of fees
Open Access Journal


The role of genetic research in autism treatment Phelan-McDermid syndrome: Sasha’s story 3169

Solovyeva N.V.
psychiatrist, the Scientific center for personalized psychiatry. Moscow, Russia, Moscow, Russia

Kitsul N.S.
Head , the Rehabilitation Center for Children and Adolescents with Disabilities (RC DPOV) "Dobrynya" Kursk NPP, Russia

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

Column: (null)


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