Autism spectrum disorder throughout history: Paleogenetic analysis

Abstract

This article provides a brief historical overview of the earliest publications on autism spectrum disorder and the subsequent scientific discussions. The main focus is on the analysis of data on genes that have been confirmed to be associated with this condition. The aim of the study is to demonstrate, by processing data from sequenced human genomes obtained from various databases. Methods used in the analysis: Data on missense SNPs for 1230 genes from SFARI GENE were extracted.  Then a search was performed for matches in David Reich’s Lab (provides genotypes and single nucleotide polymorphisms (SNPs). The matches found were compiled into a table using a custom Perl script. In the article we show that analysis of gene mutations through the paleogenetic approach is a method that can also be employed for other disorders with unknown etiology.