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On the mechanisms of the occurrence of autism spectrum disorders: a family case report 35
Tyushkevich S.A.
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 Mamokhina U.A.
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 Danilina K.K.
Researcher, Research and Clinical Center of Pediatric psychoneurology of Moscow Department of Public Health, Moscow, Russia
ORCID: https://orcid.org/0000-0002-0396-2884
e-mail: d-kk@mail.ru Pereverzeva D.S.
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 Salimova K.R.
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 Gorbachevskaya N.L.
Doctor of Biology, Professor, Head of Research Laboratory, Federal Resource Center for Organization of Comprehensive Support to Children with ASD, Moscow State University of Psychology and Education, Moscow, Russia
ORCID: https://orcid.org/0000-0002-8558-9007
e-mail: gorbachevskaya@yandex.ru
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.
The reported study was funded by Russian Foundation for Basic Research (RFBR), project number 19-013-00750
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