Affiliation:
1. Moscow State University of Psychology & Education
2. Research and Clinical Center of Pediatric psychoneurology of Moscow Department of Public Health
3. Moscow State University of Psychology and Education
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.
Funder
Russian Foundation for Basic Research
Publisher
Federal State-Financed Educational Institution of Higher Education Moscow State University of Psychology and Education
Reference20 articles.
1. Gorbachevskaya N.L., Mamokhina U.A., Vershinina N.V., Pereverzeva D.S., Kobzova M.P., Mitrofanov A.A., Sorokin A.B. Osobennosti spektral'nykh kharakteristik EEG u lits s rasstroistvami autisticheskogo spektra [Specificities of EEG spectral characteristics in individuals with autism spectrum disorders]. Psikhiatriya (Moskva) [Psychiatry Moscow], 2018, no. 78, pp. 48â54.
2. Pereverzeva D.S., Tyushkevich S.A., Mamokhina U.A., Danilina K.K. Kompleksnyi podkhod k diagnostike detei s RAS na primere klinicheskogo sluchaya, svyazannogo s mutatsiei gena FMR1 [A complex approach in the diagnostics of children with ASD. FMR1 gene mutation clinical case]. Autizm i narusheniya razvitiya [Autism and developmental disorders (Russia)], 2017, vol. 15, no. 4, pp. 42â46. DOI:10.17759/autdd.2017150406
3. Nikitina Yu.V. Mekhanizmy formirovaniya autisticheskogo sindroma v prenatal'nom i rannem postnatal'nom razvitii [Mechanisms of autistic symptom forming in prenatal and early postnatal development]. Autizm i narusheniya razvitiya [Autism and developmental disorders (Russia)], 2017, vol. 15, no. 2, pp. 65â79. DOI:10.17759/autdd.2017150207
4. Edel'son S.M. Nauchnye voprosy, svyazannye s biologiei autizma [Research Issues Involving the Biology of Autism]. Autizm i narusheniya razvitiya [Autism and developmental disorders (Russia)], 2019, vol. 17, no. 1, pp. 4â14. DOI:10.17759/autdd.2019170102
5. Bailey A., Le Couteur A., Gottesman I. et al. Autism as a strongly genetic disorder: evidence from a British twin study. Psychological Medicine, 1995, vol. 25, no. 1, pp. 63â77. DOI:10.1017/s0033291700028099
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