Linking Autism and Congenital Cerebellar Malformations
Seattle Childrens Hospital
Over the last several years, it has become apparent that autism spectrum disorders (ASDs) are a group of disorders with a multitude of causes. Although clinically and genetically variable, there are several emerging themes as to the underlying causes of ASDs. Post-mortem and MRI studies have identified a number of brain structures that are anatomically abnormal in autistic individuals, including the cerebellum. In the last several years, Dr. Millen's research group has identified a number of genes and chromosomal loci that cause abnormal development of the cerebellum. In this study, they will attempt to establish a link between ASDs and genetically defined human cerebellar malformations, testing the hypothesis that genes causing these malformations also represent an important subset of genes that confer susceptibility to ASDs. Using genetic information from individuals with ASDs, including large publicly available genetic datasets, they will search for variation in known human cerebellar malformation genes to determine whether mutations in these genes are associated with ASDs. They will also examine whether people harboring known ASD-related genetic changes have cerebellar abnormalities that are visible by MRI brain imaging. These studies may provide new information on the genetic basis of ASDs, which might help researchers develop better diagnostic procedures for these disorders.