Russian Journal of Child NeurologyRussian Journal of Child NeurologyРусский журнал детской неврологии2073-88032412-9178Publishing House ABV Press9310.17650/2073-8803-2013-8-3-31-45REVIEWS AND LECTURESОБЗОРЫ И ЛЕКЦИИGENETICS OF AUTISTIC DISORDER (REVIEW OF FOREIGN LITERATURE)ГЕНЕТИКА АУТИЗМА (ОБЗОР ЗАРУБЕЖНОЙ ЛИТЕРАТУРЫ)BobylovaM. Yu.БобыловаМ. Ю.
Russian Federation
PetchatnikovaH. L.ПечатниковаН. Л.
Russian Federation
Институт детской неврологии и эпилепсии им. Святителя Луки, МоскваРоссийская детская клиническая больницакафедра неврологии, нейрохирургии и медицинской генетики педиатрического факультета РНИМУ, Москва150720138331452007201520072015Copyright ©; 2013, ABV-PressCopyright ©; 2013, АБВ-пресс2013ABV-PressАБВ-прессhttps://rjdn.abvpress.ru/jour/about/editorialPolicieshttps://rjdn.abvpress.ru/jour/article/view/93

Autism can occur in combination with chromosomal and genetic syndromes, malformations of the brain, metabolic diseases, etc. In this regard, currently adopted the term «atypical» or «syndromic» autism – autism, which is a symptom of another disease. Genetic and chromosomal causes account for 25-50% of cases of autism. The authors presented a detailed review of the literature devoted to the genetic aspects of autism. The article discusses known hereditary diseases, manifested as autistic disorder, classification of genes-candidates of autism, the theory of autism pathogenesis, approaches to the diagnosis, as well as the problems associated with genetic counseling for patients with autism.

Аутизм может встречаться при хромосомных и генетических синдромах, пороках развития головного мозга, болезнях обмена и др. В связи с этим в настоящее время принят термин «атипичный» или «синдромальный» аутизм – аутизм, являющийся одним из симптомов другого заболевания. Генетические и хромосомные причины составляют 25-50% случаев аутизма. Авторы представили подробный обзор литературы, посвященный генетическим аспектам аутизма. В статье рассматриваются известные наследственные заболевания, проявляющиеся аутизмом, классификации генов-кандидатов аутизма, теории патогенеза аутизма, подходы к диагностике, а также проблемы, связанные с генетическим консультированием при диагностике аутизма.

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