A Family Study of Genetic Susceptibility to Autistic Traits

Research has shown that not everyone who has the genetic susceptibility to autism will become autistic. It is believed that gene discovery in autism could be facilitated by use of endophenotypes in linkage and association studies. Endophenotypes are hidden indicators of genetic susceptibility reflecting underlying disruption to covert processes such as cognition, and they are not directly correlated with behavioral expression of risk. The goal of this research was to test the hypothesis that genetic susceptibility to a social-cognitive endophenotype in children with autism and their first degree relatives is due to allelic variance in the same risk haplotypes that are of relevance to Turner syndrome. The long term goal was to discover specific genes that influence development of social cognition in males and females and which increase susceptibility to autism in families with a child with autism.