UC San Diego

Autism, a neurodevelopmental disorder marked with difficulties in one's language ability and social behavior, is currently diagnosed through behavioral analyses diagnostics such as the Autism Diagnostic Observations Schedule. While these types of diagnostics have been reported to be effective, these tests are likely to miss children whom do not demonstrate the stereotypical behaviors of a typical autistic individual like restricted and repetitive behaviors. These children will appear to be typically developing until a certain point in their lives, which follow a decline or stunted development of skills. Given current research regarding the genetics of autism, I investigated whether genetic variation in autistic children compared to typically developing children could be further stratified to an autistic child's language ability and social behavior. Analyzing both copy number variations and gene expression in autistic children and typically developing children, my results support previous studies in detecting genetic differences (variation) between the two groups. Moreover, my findings suggest that there may be group differences in biological networks related to copy number variations and differentially expressed genes in autistic children with poor versus good language ability and poor versus good social behavior. Genetic variation in children with poor language ability and poor social behavior is closely associated with biological networks related to neuronal development, cytoskeleton, and cell adhesion. In children with better language ability and better social behavior, there is a larger presence of networks associated with immune response and inflammation in addition to the biological networks found in poor language and poor social behavior groups. These findings demonstrate the potential of a biologically based marker for earlier detection of autism risk as well as an indicator for areas of difficulty in the child's development