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Autism and Developmental Disorders
2020. Vol. 18, no. 2, 32–40
doi:10.17759/autdd.2020180205
ISSN: 1994-1617 / 2413-4317 (online)

On the mechanisms of the occurrence of autism spectrum disorders: a family case report

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S.A. Tyushkevich, U.A. Mamokhina, K.K. Danilina, D.S. Pereverzeva, K.R. Salimova, N.L. Gorbachevskaya

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Abstract

Currently, more than 1000 genes described in which mutations are observed in autism spectrum disorders. Neurobiological predictors have been found to presume these abnormalities in early postnatal ontogenesis. However, the mechanisms of the occurrence of these genetic abnormalities remain unclear. This is connected to the particular interest in the description of family cases in which ASD in combination with various genome features are observed. The data of a five-year comprehensive psychological and neurophysiological study of three siblings with various developmental features and genetic disorders inherited from the father are presented. The results revealed that all children showed an increase in altered chromosome regions inherited from their father. However, only in the case of an increase in repeats in chromosome 8, autism spectrum disorder was diagnosed in a child. Changes in the Y chromosome, apparently, are not associated with detected developmental disorders in two other children.

General Information

Keywords: autism spectrum disorders, psychological studies, bioelectrical activity of the brain, genetic disorders, family case

Journal rubric: Research & Diagnosis of ASD

Article type: scientific article

DOI: https://doi.org/10.17759/autdd.2020180205

Funding. The reported study was funded by Russian Foundation for Basic Research (RFBR), project number 19-013-00750

For citation: Tyushkevich S.A., Mamokhina U.A., Danilina K.K., Pereverzeva D.S., Salimova K.R., Gorbachevskaya N.L. On the mechanisms of the occurrence of autism spectrum disorders: a family case report. Autizm i narusheniya razvitiya = Autism and Developmental Disorders, 2020. Vol. 18, no. 2, pp. 32–40. DOI: 10.17759/autdd.2020180205. (In Russ., аbstr. in Engl.)

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Information About the Authors

Svetlana A. Tyushkevich, PhD in Psychology, Senior Researcher of the scientific laboratory of the Federal Resource Center for Organization of Comprehensive Support to Children with ASD, Moscow State University of Psychology & Education, Moscow, Russia, ORCID: https://orcid.org/0000-0002-9029-2830, e-mail: tyushkevichsv@yandex.ru

Ulyana A. Mamokhina, Junior Researcher of the scientific laboratory of the Federal Resource Center for the Organization of Comprehensive Support to Children with ASD, Moscow State University of Psychology & Education, Moscow, Russia, ORCID: https://orcid.org/0000-0003-2738-7201, e-mail: uliana.mamokhina@gmail.com

Kamilla K. Danilina, Researcher, Research and Clinical Center of Pediatric psychoneurology of Moscow Department of Public Health, Junior Researcher, Scientific laboratory, Federal Resource Center for Organization of Comprehensive Support to Childrenwith ASD, Moscow State University of Psychology & Education, Moscow, Russia, ORCID: https://orcid.org/0000-0002-0396-2884, e-mail: d-kk@mail.ru

Darya S. Pereverzeva, PhD in Psychology, Senior Researcher of the Federal Resource Center for Organization of Comprehensive Support to Children with Autism Spectrum Disorders, Moscow State University of Psychology and Education, Moscow, Russia, ORCID: https://orcid.org/0000-0002-6881-3337, e-mail: dasha.pereverzeva@gmail.com

Ksenia R. Salimova, Junior Researcher of the Scientific laboratory of the Federal Resource Center for Organization of Comprehensive Support, Moscow State University of Psychology & Education, Moscow, Russia, ORCID: https://orcid.org/0000-0001-6328-001X, e-mail: ksalimova@yandex.ru

Natalia L. Gorbachevskaya, Doctor of Biology, Professor, Moscow State University of Psychology and Education, Leading Researcher, Laboratory of Neurophysiology, Mental Health Research Centre, Moscow, Russia, ORCID: https://orcid.org/0000-0002-8558-9007, e-mail: gorbachevskayanl@mgppu.ru

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