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22q11 deletion syndrome

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Velo-Cardio-Facial Syndrome: 30 Years Of Study, Robert Shprintzen Dec 2015

Velo-Cardio-Facial Syndrome: 30 Years Of Study, Robert Shprintzen

Robert J. Shprintzen

Velo-cardio-facial syndrome is one of the names that has been attached to one of the most common multiple anomaly syndromes in humans. The labels DiGeorge sequence, 22q11 deletion syndrome, conotruncal anomalies face syndrome, CATCH 22, and Sedlačková syndrome have all been attached to the same disorder. Velo-cardio-facial syndrome has an expansive phenotype with more than 180 clinical features described that involve essentially every organ and system. The syndrome has drawn considerable attention because a number of common psychiatric illnesses are phenotypic features including attention deficit disorder, schizophrenia, and bipolar disorder. The expression is highly variable with some individuals being essentially …


Cognitive And Psychiatric Predictors To Psychosis In Velocardiofacial Syndrome: A 3-Year Follow-Up Study, Kevin Antshel, Robert Shprintzen, Wanda Fremont, Anne Higgins, Stephen Faraone, Wendy Kates Dec 2015

Cognitive And Psychiatric Predictors To Psychosis In Velocardiofacial Syndrome: A 3-Year Follow-Up Study, Kevin Antshel, Robert Shprintzen, Wanda Fremont, Anne Higgins, Stephen Faraone, Wendy Kates

Robert J. Shprintzen

Objective: To predict prodromal psychosis in adolescents with velocardiofacial syndrome (VCFS). Method: 70 youth with VCFS, 27 siblings of youth with VCFS and 25 community controls were followed from childhood (Mean age = 11.8 years) into mid-adolescence (mean age 15.0 years). Psychological tests measuring intelligence, academic achievement, learning/memory, attention and executive functioning as well as measures of parent and clinician ratings of child psychiatric functioning were completed at both time point. Results: Major depressive disorder, oppositional defiant disorder, and generalized anxiety disorder diagnoses increased in the VCFS sample. With very low false positive rates, the best predictor of adolescent prodromal …