Formation of cognitive processes in children with autism. Part II. Genetic mechanisms

Abstract

Autism and autism spectrum disorders are neuropsychiatric diseases that begin to appear in children under 3 years. Over the past decade, the number of children with autism spectrum disorders has increased more than in 10-fold and continues to grow, accounting for 1–2% of the world’s population. Currently, the diagnosis of autism spectrum disorders is based only on clinical and behavioral tests, and there are no biological and genetic markers that could contribute to the early detection of this disorder. The review, based on the analysis of modern literature data about symptoms, genetic etiological factors that associated with autism, examines the possibility of using genes as diagnostic biomarkers in children with autism spectrum disorders. Analysis of literature data shows that disorders of attention, speed of information processing, working memory, learning are based on genetic (mutations, SNPs) and epigenetic (methylation) changes in the expression of many genes: BDNF, CAPS2, CNTNAP2, GABRB3, FMR1, FOXP1, GTF2I, HSD11B2, MECP2, NF2, NGF, NR3C1, OXTR, PAK2, RELN, SLC6A4, UBE3A, etc. Some of these genes (RELN) are associated with ASD severity.