Abstract

Introduction: Autism spectrum disorder (ASD) is found in virtually all population groups regardless of ethnic or socioeconomic backgrounds. Among others, dominant symptoms of autism persistent throughout its course of development include, inter alia, qualitative disorders of social communication and social interactions. Numerous studies have been performed on animal models as well as groups of healthy individuals to assess the potential role of oxytocinergic and vasopresynergic systems in normal social functioning. These studies have also discussed their potential participation in the development of social cognition dysfunctions in the course of ASD. This literature review aimed to identify studies examining single-nucleotide polymorphisms of the oxytocin (OXT) and arginine vasopressin (AVP) receptor genes and their differential effects on social cognitive dysfunction in the development of ASD. Methods: A systematic review of literature published within the last 10 years and accessible in PubMed, Google Scholar, Cochrane Library, and APA PsycNET databases was conducted by each author separately. Inclusion criteria required that articles should 1) be published between January 2008 and August 2018; 2) be published in English or Polish; 3) be located in periodical publications; 4) focus on the role of polymorphisms within oxytocin and vasopressin receptor genes in autistic population; 5) provide a clear presentation of the applied methodology; and 6) apply proper methodology. Results: From the 491 studies qualified to the initial abstract analysis, 15 met the six inclusion criteria and were included in the full-text review. Conclusions: The analysis of available literature seems to indicate that there is an association between social cognition dysfunctions in the course of autism and selected alleles of polymorphisms within the OXT receptor AVP 1A receptor genes. However, previous studies neither specify the nature of this association in an unequivocal way nor select genotypes that are the basis for this association.

Highlights

  • Autism spectrum disorder (ASD) is found in virtually all population groups regardless of ethnic or socioeconomic backgrounds

  • The analysis of available literature seems to indicate that there is an association between social cognition dysfunctions in the course of autism and selected alleles of polymorphisms within the OXT receptor arginine vasopressin (AVP) 1A receptor genes

  • Previous studies neither specify the nature of this association in an unequivocal way nor select genotypes that are the basis for this association

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Summary

Introduction

Autism spectrum disorder (ASD) is found in virtually all population groups regardless of ethnic or socioeconomic backgrounds. Numerous studies have been performed on animal models as well as groups of healthy individuals to assess the potential role of oxytocinergic and vasopresynergic systems in normal social functioning These studies have discussed their potential participation in the development of social cognition dysfunctions in the course of ASD. Dominant symptoms of autism persistent throughout the course of its development include qualitative disorders of social communication and social interactions, deficits in social reciprocity, and/or excessive adherence to rituals and fixed patterns of behavior [2] These symptoms are observed permanently regardless of the person’s background or situation [2, 3]. These abilities are essential to normal functioning in society, and over the long term, their deficits may lead to the individual’s exclusion and stigmatization [6]

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