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

Autor:	N.L. Gorbachevskaya, Uliana Mamokhina, K.R. Salimova, Svetlana Tyushkevich, Kamilla Danilina, D.S. Pereverzeva
Rok vydání:	2020
Předmět:	03 medical and health sciences 0302 clinical medicine 030225 pediatrics 05 social sciences 0501 psychology and cognitive sciences General Medicine 050104 developmental & child psychology
Zdroj:	Autism and Developmental Disorders. 18:32-40
ISSN:	2413-4317 1994-1617
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::7788e6a7701e339b18a1bbcacd121999 https://doi.org/10.17759/autdd.2020180205 Zobrazit plný text záznamu