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On the mechanisms of the occurrence of autism spectrum disorders: a family case report 62
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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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. 48–54.
-
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. 42–46.
DOI:10.17759/autdd.2017150406
-
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. 65–79.
DOI:10.17759/autdd.2017150207
-
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. 4–14.
DOI:10.17759/autdd.2019170102
-
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. 63–77.
DOI:10.1017/s0033291700028099
-
Charman T. et al. IQ in children with autism
spectrum disorders: data from the Special Needs and Autism Project (SNAP).
Psychological Medicine, 2011, vol. 41, no. 3, pp. 619–627.
DOI:10.1017/S0033291710000991
-
Christensen D.L. et al. Prevalence and
Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years: Autism
and Developmental Disabilities Monitoring Network, 11 Sites, United States,
2012. Morbidity and mortality weekly report: Surveillance summaries
(Washington, D.C.: 2002), 2016, vol. 65, no. 3, pp. 1–23.
DOI:10.15585/mmwr.ss6503a1
-
Frye R.E., Vassall S., Kaur G., Lewis C., Karim M.,
Rossignol D. Emerging biomarkers in autism spectrum disorder: a systematic
review. Annals of translational medicine, 2019, vol. 7, no. 23, pp. 792.
DOI:10.21037/atm.2019.11.53
-
Gardener H., Spiegelman D., Buka S.L. Perinatal and
neonatal risk factors for autism: a comprehensive meta-analysis.
Pediatrics, 2011, vol. 128, no. 2, pp. 344–355.
DOI:10.1542/peds.2010-1036
-
Hallmayer J., Cleveland S., Torres A. et al.
Genetic heritability and shared environmental factors among twin pairs with
autism. Archives of General Psychiatry, 2011, vol. 68, no. 11, pp.
1095–1102. DOI:10.1001/archgenpsychiatry.2011.76
-
Leekam S.R., Nieto C., Libby S.J. et
al. Describing the Sensory Abnormalities of Children and Adults with
Autism. Journal of autism and developmental disorders, 2007, vol. 37,
no. 5, pp. 894–910. DOI:10.1007/s10803-006-0218-7
-
Marshall C.R., Noor A., Vincent J.B. et al.
Structural variation of chromosomes in autism spectrum disorder. American
journal of human genetics, 2008, vol. 82, no. 2, pp. 477–488.
DOI:10.1016/j.ajhg.2007.12.009
-
O’Donnell S., Deitz J., Kartin D., Nalty T., Dawson
G. Sensory processing, problem behavior, adaptive behavior, and cognition
in preschool children with autism spectrum disorders. American Journal of
Occupational Therapy, 2012, vol. 66, no. 5, pp. 586–594.
DOI:10.5014/ajot.2012.0041
-
Pinto D., Pagnamenta A.T., Klei L. et al.
Functional impact of global rare copy number variation in autism spectrum
disorders. Nature, 2010, vol. 466, no. 7304, pp. 368–372.
DOI:10.1038/nature09146
-
Santiago-Sim T., Burrage L.C., Ebstein F. et al.
Biallelic variants in OTUD6B cause an intellectual disability syndrome
associated with seizures and dysmorphic features. American journal of
human genetics, 2017, vol. 100, no. 4, pp. 676–688.
DOI:10.1016/j.ajhg.2017.03.001
-
Sebat J., Lakshmi B., Malhotra D. et al. Strong
association of de novo copy number mutations with autism. Science, 2007,
vol. 316, no. 5823, pp. 445–449. DOI:10.1126/science.1138659
-
Spiker D. Birth order effects on nonverbal IQ
scores in autism multiplex families. Journal of Autism and Developmental
Disorders, 2001, vol. 31, no. 5, pp. 449–460.
DOI:10.1023/a:1012217807469
-
Tordjman S., Somogyi E., Coulon N. et al.
Gene × Environment interactions in autism spectrum disorders: role of
epigenetic mechanisms. Frontiers in Psychiatry, 2014, vol. 5, no. 53.
DOI:10.3389/fpsyt.2014.00053
-
Waye M.M.Y. Cheng H.Y. Genetics and epigenetics of
autism: A Review. Psychiatry and Clinical Neurosciences, 2018, vol. 72,
no. 4, pp. 228–244. DOI:10.1111/pcn.12606
-
Weintraub K. The prevalence puzzle: Autism counts.
Nature, 2011, vol. 479, no. 7371, pp. 22–24. DOI:10.1038/479022a
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