Autism spectrum disorders in infants: evolution of concepts and opportunities of diagnosing (part 2)

L.H. Kyrylova, O.O. Miroshnikov, O.O. Yuzva


Based on an analysis of modern scientific literature, the article presents the data on the etiology, pathogenesis, and clinical features of autism spectrum disorders (ASD) in young children. A historical excursion is given regarding the evolution of concepts on ASD. The first descriptions of people who pro-bably had clinical manifestations of ASD were presented in medieval church chronicles, the lives of saints, as well as bless fools and biographies of so called children from the forest. In domestic psychiatry, the problem of autistic contact disorders in children was developed by G.E. Sukhareva in the early XX century. Modern scientific ideas about ASD are laid down in the works of Leo Kanner, Hans Asperger and Lorna Wing, who first developed diagnostic criteria for various forms of the disorder. ASD is currently known as a result of the interaction of genetic factors with environmental ones. The influence of environmental factors can lead to serious disorders of brain development, in particular, adversely affect the differentiation of neurons, synaptoge-nesis and axonal myelination. At this stage of the development of scientific views on ASD in children, the relationship between disorders and epileptic encephalopathies, which mainly have a genetic etiology, is confirmed. Due to the presence of common genetic mutations that cause ASD and epileptic encephalopathy, all children with ASD with an unknown etiology of the disorder should be tested by NGS method on genes panel associated with epileptic encephalopathies, as well as undergo EEG-monitoring during night sleep. The developed diagnostic schemes allow timely diagnosing the epileptic encephalopathy in children with autism spectrum disorders and prescribe pathogenetic treatment using drugs with neurometabolic and neuroprotective effects, as well as anticonvulsants.


epileptic encephalopathies; autism spectrum disorders; epileptiform activity; genetic mutations


Baio J. et al. Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years — Autism and Developmental Disabilities Mo-nitoring Network, 11 Sites, US, 2014. MMWR Surveill. Summ. 2018 Apr 27. 67(6). 1-23.

Christensen D.L. et al. Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, US, 2012. MMWR Surveill. Summ. 2018 Nov 16. 65(13). 1-23.

Марценковський І.А., Марценковська І.І. Розлади аутистичного спектра: фактори ризику, особливості діагностики й терапії. Міжнародний неврологічний журнал. 2018. 4 (98).

Розлади аутистичного спектра (розлади загального розвитку). Уніфікований клінічний протокол первинної, вторинної (спеціалізованої), третинної (високоспеціалізованої) медичної допомоги та медичної реабілітації. Наказ Міністерства охорони здоров’я України від 15 червня 2015 р. № 341.

Lyall K. et al. The Changing Epidemiology of Autism Spectrum Disorders. Annu Rev. Public Health. 2017 Mar 20. 38. 81-102.

Siu M.T. Epigenetics of Autism Spectrum Disorder. Adv. Exp. Med. Biol. 2017. 978. 63-90.

Waye M.M.Y., Cheng H.Y. Genetics and epigenetics of autism: A Review. Psychiatry Clin. Neurosci. 2018 Apr. 72(4). 228-244.

American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders (Fifth ed.). Arlington, VA: American Psychiatric Publishing, 2013.

Havdahl К.А. et al. The influence of parental concern on the utility of autism diagnostic instruments. Autism. Res. 2017 Oct. 10(10). 1672-1686.

Eom S., Fisher B. et al. Routin developmental, autism, beha-vioral, and psychological screening in epilepsy care settings. Dev. Med. Child Neurol. 2014 Nov. 56(11). 1100-1105.

Pinto D., Delaby E. et al. Convergence of genes and cellular pathway dysregulated in autism spectrum disorder. Am. J. Hum. Genet. 2014 May 1. 94(5). 677-694.

Olson H., Shen Y. et al. Copy number variation plays an important role in clinical epilepsy. Ann. Neurol. 2014. 75(6). 943-958.

Woodbury-Smith M., Scherer S.W. Progress in the genetics of autism spectrum disorder. Dev. Med. Child Neurol. 2018 May. 60(5). 445-451.

Кириллова Л.Г. и др. Синдром XXYY как пример сочетания метаболической эпилептической энцефалопатии и расстройства аутистического спектра с генетической детерминацией. Міжнародний неврологічний журнал. 2015. 2.


Глухова Л.Ю. Аутистический эпилептиформный регресс. Русский журнал детской неврологии. 2012. 7(1). 21-30.

Tuchman R. Autism and Epilepsy: What Has Regression Got to Do with It? Epilepsy Curr. 2006 Jul. 6(4). 107-111.

Tuchman R., Hirtz D., Mamounas L.A. NINDS epilepsy and autism spectrum disorders workshop report. Neurology. 2013 Oct 29. 81(18). 1630-6.

Кирилова Л.Г., Ткачук Л.І. та ін. Діагностика когнітивної епілептиформної дезінтеграції з розладами аутистичного спектра у детей раннього віку. Perinatologiya i pediatriya. 2016. 2(66). 106-111.

Besag F.M. Epilepsy in patients with autism: link, risks and treatment challenges. Neuropsychiatric Disease and Treatment. 2018. 14. 1-10.

Amiet C. et al. Epilepsy in autism is associated with intellectual disability and gender: evidence form a meta-analysis. Biol. Psychiatry. 2008. 64(7). 577-582.

Danielsson S., Gillberg I.С. et al. Epilepsy in young adults with autism: a prospective population-based study of 120 individuals diagnosed in childhood. Epilepsia. 2005. 46. 918-

El Achar C.M., Spence S.J. Clinical characteristics of children and young adults with co-occuring autism spectrum disorder and epilepsy. Epilepsy Behav. 2015. 47. 183-190.

Fisher R.S. et al. Operational classification of seizure types by the International League Against Epilepsy. Epilepsia. 2017. 51(4). 522-530.

Jeste S.S., Tuchman R. Autism Spectrum Disorder and Epilepsy: Two Sides of the Same Coin? J. Child Neurol. 2015 Dec. 30(14). 1963-1971.

Kim H.L., Donnely J.H. et al. Absence of seizures despite high prevalence of epileptiform EEG abnormalities in children with autism monitored in tertiary care center. Epilepsia. 2006. 47. 394-398.

Millichap J.G. EEG Epileptiform Discharges in “Healthy” Children. Pediatric Neurology Briefs, 2010. 24(8). 61-62.

Baird G. et al. Sleep electroencephalograms in young children with autism with and without regression. Dev. Med. Child Neurol. 2006. 48. 604-608.

McVicar K.A. et al. Epileptiform EEG abnormalities in children with language regression. Neurology. 2005. 65.


Kanemura H., Sano F., Tando T., Sugita K., Aihara M. Can EEG characteristics predict development of epilepsy in autistic children? Eur. J. Paediatr. Neurol. 2013. 17(3). 232-237.

Kumaraku A.T. et al. Epilepsy in autism spectrum disorders. EJPN. 2015. 19. 58.

Bo Hoon Lee, Tristram Smith, Alex R. Paciorkowski. Autism Spectrum Disorder and Epilepsy: disorders with a shared biology. Epilepsy Behav. 2015 June. 47. 191-201.


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.


© Publishing House Zaslavsky, 1997-2020


   Seo анализ сайта