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Autism and Developmental Disorders
2016. Vol. 14, no. 2, 13–19
https://doi.org/10.17759/autdd.2016140202
ISSN: 1994-1617 / 2413-4317 (online)

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

OpenAlex citations: 0

OpenAlex trends: Autism Spectrum Disorder Research, Genomics and Rare Diseases

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Number of citations: 0

Topics

Autism Spectrum Disorder Research

This cluster of papers encompasses a wide range of research on Autism Spectrum Disorders, including genetics, neurodevelopmental aspects, social skills interventions, brain connectivity, epidemiology, executive functioning, early intervention, emotion recognition, and neuroanatomy.

Number of works: 157201  |  Total number of citations: 3110342

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Genomics and Rare Diseases

This cluster of papers focuses on the standards, guidelines, and tools for interpreting genetic variants, particularly in the context of clinical genomics and Mendelian disorders. It includes topics such as pathogenicity prediction, functional annotations, sequence interpretation, and the use of exome sequencing for identifying disease-causing variants.

Number of works: 65922  |  Total number of citations: 822666

Topic detailsв OpenAlex

Work details in OpenAlex

Article type: scientific article

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

Published

For citation: Solovyeva, N.V., Kitsul, N.S. (2016). The role of genetic research in autism treatment Phelan-McDermid syndrome: Sasha’s story . Autism and Developmental Disorders, 14(2), 13–19. (In Russ.). https://doi.org/10.17759/autdd.2016140202

© Solovyeva N.V., Kitsul N.S., 2016

License: CC BY-NC 4.0

Information About the Authors

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

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

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