DOI: https://doi.org/10.22141/2224-0713.16.5.2020.209252

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

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

Abstract


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.


Keywords


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

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