Genetics plays a major role in autism, but the relationships are complex and not well understood. Individuals with autism frequently also have other disorders such as fragile X syndrome, Rett syndrome and tuberous sclerosis. Mutations in specific genes — such as neuroligins, which help relay signals between neurons — have also been linked to autism.
Abba Krieger and Andreas Buja at the University of Pennsylvania (in collaboration with Eric Fombonne, Edwin Cook and Alex Lash) analyzed the relationship between body temperature and cognitive functioning as measured by intelligence quotients (IQ) in individuals with autism.
16p11.2 are the most common chromosomal change seen in individuals with autism. State and his multisite team of investigators also showed that girls with autism carry evidence of more profound genetic risks, suggesting that they are protected from autism when carrying less serious mutations that would lead to autism in boys.
Mirror neurons are nerve cells that are activated when an individual observes an action being performed by someone else. These neurons are believed to be involved in cognitive abilities such as empathy and learning by imitation — skills that are often impaired in people with autism. Raphael Bernier at the University of Washington is exploring a potential link between mirror neuron dysfunction and autism, which could help elucidate how the disorder develops, and might provide a basis for early detection and intervention.
The overarching goal of our work is to delineate the clinical and genetic heterogeneity within the Autism Spectrum Disorder diagnosis so that prognoses, treatments and preventive strategies can be implemented which are specific to each autism subgroup. We start by looking for biologically-based phenotypes which can be used to define discrete subgroups. One autism subgroup has been recognized based on findings generalized through often subtle differences in their physical features, indicating an insult to normal morphogenesis. Based on the premise that they would be genetically different from the rest, our goal has been to learn how to distinguish those children, characterize the ways they differ from children without dysmorphology and translate that information into best clinical practices.