Open AccessThe role of genetic research in autism treatment Phelan-McDermid syndrome: Sasha’s story
Author(s) -
N. V. Solovyeva,
N S Kitsul
Publication year - 2016
Publication title -
autizm i narušenie razvitiâ
Language(s) - English
Resource type - Journals
eISSN - 2413-4317
pISSN - 1994-1617
DOI - 10.17759/autdd.2016140202
Subject(s) - autism , autism spectrum disorder , genetic syndromes , genetic testing , psychology , psychiatry , medicine , pediatrics
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.