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Full-Text Articles in Communication Sciences and Disorders
Mapping Cortical Morphology In Youth With Velocardiofacial (22q11.2 Deletion) Syndrome, Wendy Kates, Ravi Bansal, Wanda Fremont, Xuejun Hao, Anne Higgins, Jun Liu, Robert Shprintzen, Bradley Peterson
Mapping Cortical Morphology In Youth With Velocardiofacial (22q11.2 Deletion) Syndrome, Wendy Kates, Ravi Bansal, Wanda Fremont, Xuejun Hao, Anne Higgins, Jun Liu, Robert Shprintzen, Bradley Peterson
Robert J. Shprintzen
Objective: Velo-cardio-facial syndrome (VCFS; 22q11.2 deletion syndrome) represents one of the highest known risk factors for schizophrenia. Insofar as up to thirty percent of individuals with this genetic disorder develop schizophrenia, VCFS constitutes a unique, etiologically homogeneous model for understanding the pathogenesis of schizophrenia. Method: Using a longitudinal, case-control design, we acquired anatomic magnetic resonance images to investigate both cross-sectional and longitudinal alterations in surface cortical morphology in a cohort of adolescents with VCFS and age-matched typical controls. All participants were scanned at two time points. Results: Relative to controls, youth with VCFS exhibited alterations in inferior frontal, dorsal frontal, …
Velo-Cardio-Facial Syndrome, Doron Gothelf, Amos Frisch, Elena Michaelovsky, Abraham Weizman, Robert Shprintzen
Velo-Cardio-Facial Syndrome, Doron Gothelf, Amos Frisch, Elena Michaelovsky, Abraham Weizman, Robert Shprintzen
Robert J. Shprintzen
Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the microdeletion region and the physical and neuropsychiatric phenotype of the syndrome. Velocardiofacial syndrome has a wide spectrum of more than 200 physical manifestations including palate and cardiac anomalies. Yet, the most challenging manifestations of VCFS are the learning disabilities and neuropsychiatric disorders. As VCFS is relatively common and …
Neuroanatomic Predictors To Prodromal Psychosis In Velocardiofacial Syndrome (22q11.2 Deletion Syndrome): A Longitudinal Study, Wendy Kates, Kevin Antshel, Stephen Faraone, Wanda Fremont, Anne Higgins, Robert Shprintzen, Jo-Anna Botti, Lauren Kelchner, Christopher Mccarthy
Neuroanatomic Predictors To Prodromal Psychosis In Velocardiofacial Syndrome (22q11.2 Deletion Syndrome): A Longitudinal Study, Wendy Kates, Kevin Antshel, Stephen Faraone, Wanda Fremont, Anne Higgins, Robert Shprintzen, Jo-Anna Botti, Lauren Kelchner, Christopher Mccarthy
Robert J. Shprintzen
Background: Up to 30% of young adults with velocardiofacial syndrome (VCFS; 22q11.2 deletion syndrome) develop schizophrenia or psychosis. Identifying the neuroanatomic trajectories that increase risk for psychosis in youth with this genetic disorder is of great interest. Methods: We acquired high-resolution anatomic MR images and measures of psychiatric function on 72 youth with VCFS, 26 unaffected siblings and 24 age-matched community controls at two timepoints, between late childhood (mean age, 11.9 years) and mid-adolescence (mean age, 15.1 years). Results: With the exception of cranial gray matter and orbitofrontal prefrontal cortex, neuroanatomic trajectories in youth with VCFS were comparable to unaffected …