This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Introduction: The Center for Interdisciplinary Brain Sciences Research (CIBSR; http://cibsr.stanford.edu) is dedicated to investigation of brain function and structure in individuals with neurodevelopmental, neuropsychiatric and neurogenetic syndromes. This report summarizes several MRI studies conducted at the Lucas Center that illustrate how MRI is an invaluable technology in understanding the neural basis for many important syndromes. Velocardiofacial Syndrome (VCFS) is caused by a deletion on 22q11.2 and is associated with facial and cardiac anomalies, developmental delay, cognitive disability, and psychiatric disorders. This project includes 18 subjects with VCFS and 18 age and gender matched controls. This is the first study investigating longitudinally brain development in VCFS. Williams Syndrome results from a deletion at 7q11.23 and is characterized by visual-spatial deficits in combination with enhanced emotionality and face processing. This project includes 10 individuals with Williams syndrome, 10 normal controls and 2 individuals with idiopathic developmental delay. Renpenning Syndrome is a form of X-Linked Mental Retardation (XLMR) caused by anomalies on the X-chromosome and associated with severe cognitive impairment. We scanned 6 individuals with Renpenning syndrome and compared their volumetric MRI results to those of 28 age and gender matched controls. Fragile X Syndrome is caused by a mutation to the FMR1 gene on the long arm of the X-chromosome at Xq27.3 and is associated with mild to severe cognitive impairment. In this longitudinal study consisting of Time 1 and Time 2 structural and functional scans, we have obtained longitudinal data on 30 school age boys and girls with Fragile X. Psychotic Major Depression (PMD) is a relatively common disorder that has been considered to be a subtype of depression. However, considerable data now indicate that PMD is a distinct entity from major depression. In this ongoing study, functional and structural MRI data have been collected on approximately 29 subjects with PMD, 27 subjects with non-psychotic major depression, and 29 healthy control subjects. Brain structure and function are being correlated with neuropsychological task performance and measures of cortisol to determine if PMD is associated with dysfunction of the hypothalamic-pituitary axis. Adolescent Major Depression (MDD) is a recurrent and life-changing illness for 5 to 8 percent of adolescents, but current treatments have been derived from adult studies and are not validated in adolescents. T Funding: NIMH R01 MH50047 Longitudinal Outcomes and Neuroimaging of Fragile X Syndrome NIMH R01 MH64708 Longitudinal MRI Study of Brain Development in Fragile X HD33113 Subcontract from the Salk Institute for Biological Studies (NICHD prime) Williams Syndrome: Bridging Cognition and Gene; Project III: Functional Neuroanatomy of Williams Syndrome HD/NS26202 Subcontract from Greenwood Genetic Center (NIH Prime) X-Linked Mental Retardation (XLMR): Linkage and Clinical Studies NIMH R01 MH50604 HPA Axis/Dopamine Interactions in Psychotic Depression
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