Those without autism spectrum disorder diagnosis may still be on genetic spectrum

(credit: Mayo Clinic Gene Expression Core)

Almost all autism spectrum disorders (ASD) risk factors that we know about are found in the unaffected, general population. (That’s what makes them risk factors, rather than genetic determinants.) And in that general population, there is a very wide range of social awareness, engagement in relationships, and communication styles.

The relationships among ASD genetic risk factors, normal variability in social functioning, and neuropsychiatric disorders (like ASD) have not been carefully examined. So a bunch of geneticists, psychiatrists, epidemiologists, and bioinformaticists decided it was time to examine it.

Genetic links to ASD—not causes of autism, but links to it—have been identified through genome wide-association studies. In these studies, the genetic variants present in people with ASD are compared to those of controls to see which variants might be associated with risk. This is the method by which genetic links to other psychiatric disorders have been identified, and it has been effective; over a hundred ASD associated mutations have been found this way.