Neuroimaging of developmental and genetic disorders

Knowledge of the neurobiologic mechanisms that produce developmental brain disorders has increased considerably with the development and implementation of neuroimaging methodologies. By systematically accessing the developing brain, neuroimaging studies provide the means to identify disorder-specific brain abnormalities, explore the neuroanatomic basis of age-related functional changes, and directly test hypotheses about brain- behavior associations. This article reviews the contribution of neuroimaging studies to our understanding of several specific syndromes associated with developmental dysfunction in children. Specifically, neuroimaging studies of Down, fragile X, Turner's, Williams, and Rett syndromes are used to explore the mechanisms through which distinct genetic factors lead to abhor real brain development and cognitive and behavioral dysfunction in children.