Neuroimaging studies in Angelman syndrome
It is known from brain MRI study that there are no obvious malformations associated with AS. However, it is not known if there are more subtle differences in brain development that might provide clues to the action of UBE3A or provide clues as to how some of the behavioral and other intellectual deficiencies might be related to microscopic changes in brain development. This grant involved detailed study of many aspects of brain shape and size, including study of the white matter nerve tracts by use of state-of-the-art MRI imaging. A group of individuals with AS were compared to a group of typically developing individuals. The results indicated presumptive areas of volume changes and white matter abnormalities that are deserving of further study. The investigators presented hypotheses correlating certain behavioral attributes with abnormalities observed from the brain imaging studies.