Since 2008, Abba Krieger, Andreas Buja and their colleagues in the statistics department at the Wharton School of the University of Pennsylvania have carried out various statistical analyses on genotype (genetically coded information) and phenotype (outward manifestation of that information) data from individuals with autism.
The mission of the Interactive Autism Network (IAN) is to accelerate autism spectrum disorder research in order to improve the lives of people living with this disorder. IAN has fulfilled an important need by offering valuable services (assistance with participant recruitment and data distribution) to the research community.
Prenatal and early-life infections and associated febrile and immune responses may contribute to autism by regulating brain maturation and central nervous system function. W. Ian Lipkin, Mady Hornig and their colleagues at Columbia University aim to examine the role of infection and immunity in the pathogenesis of neurodevelopmental disorders. They plan to study a large pregnancy and birth cohort comprising more than 114,000 children and their parents.
There is definitive evidence that rare mutations, including spontaneous, or de novo, structural variations, contribute to autism spectrum disorders. However, recent findings highlight important remaining areas for investigation.
The Simons Simplex Collection (SSC) is a rigorously characterized set of data drawn from 2,700 families, designed to enrich the discovery of rare and de novo events in autism spectrum disorders. Twelve clinical sites in North America provided data from families who have one child between 4 and 18 years of age with an autism spectrum disorder. Data from each family also include information about unaffected siblings and unaffected biological parents.
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.
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.
22q11 deletion syndrome is among a growing number of genomic disorders that are associated with autism, and is one of the most common recurrent copy number variants (CNVs) — deletions or duplications of DNA — associated with altered development of social-communication, language and behavioral skills.
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.