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Full-Text Articles in Medical Sciences
Autistic Spectrum Disorders In Velo-Cardio Facial Syndrome (22q11.2 Deletion), Kevin M. Antshel, Alka Aneja, Leslie A. Strunge, Jena Peebles, Wanda Fremont, Kimberly Stallone, Nuria Abdulsabur, Anne Marie Higgins, Robert J. Shprintzen, Wendy R. Kates
Autistic Spectrum Disorders In Velo-Cardio Facial Syndrome (22q11.2 Deletion), Kevin M. Antshel, Alka Aneja, Leslie A. Strunge, Jena Peebles, Wanda Fremont, Kimberly Stallone, Nuria Abdulsabur, Anne Marie Higgins, Robert J. Shprintzen, Wendy R. Kates
Communication Disorders Faculty Publications
The extent to which the phenotype of children comorbid for velocardiofacial syndrome (VCFS) and autism spectrum disorders (ASD) differs from that of VCFS-only has not been studied. The sample consisted of 41 children (20 females) with VCFS, ranging in age from 6.5 years to 15.8 years. Eight children with VCFS met formal DSM-IV diagnostic criteria for autism based upon the ADI-R. These eight plus an additional nine participants met diagnostic criteria for an autistic spectrum disorder (VCFS + ASD). Ninety-four percent of the children with VCFS + ASD had a co-occurring psychiatric disorder while 60% of children with VCFS had …
The Neural Correlates Of Non-Spatial Working Memory In Velocardiofacial Syndrome (22q11.2 Deletion Syndrome), Wendy R. Kates, Beth R. Krauss, Nuria Abdulsabur, Dierdre Colgan, Kevin M. Antshel, Anne Marie Higgins, Robert J. Shprintzen
The Neural Correlates Of Non-Spatial Working Memory In Velocardiofacial Syndrome (22q11.2 Deletion Syndrome), Wendy R. Kates, Beth R. Krauss, Nuria Abdulsabur, Dierdre Colgan, Kevin M. Antshel, Anne Marie Higgins, Robert J. Shprintzen
Communication Disorders Faculty Publications
Velocardiofacial syndrome (VCFS), also known as 22q11.2 deletion syndrome, is a neurogenetic disorder that is associated with both learning disabilities and a consistent neuropsychological phenotype, including deficits in executive function, visuospatial perception, and working memory. Anatomic imaging studies have identified significant volumetric reductions in the parietal lobe of individuals with VCFS, but several studies have reported that the frontal lobe is relatively preserved. We used functional magnetic resonance imaging to investigate the neural correlates of non-spatial working memory in 17 youths with VCFS, 10 of their unaffected siblings, and 10 community controls (with the same proportion of learning disabilities as …
Velo-Cardio-Facial Syndrome, Robert J. Shprintzen, Anne Marie Higgins, Kevin M. Antshel, Wanda Fremont, Nancy Roizen, Wendy R. Kates
Velo-Cardio-Facial Syndrome, Robert J. Shprintzen, Anne Marie Higgins, Kevin M. Antshel, Wanda Fremont, Nancy Roizen, Wendy R. Kates
Communication Disorders Faculty Publications
Purpose of review: Velo-cardio-facial syndrome has emerged from obscurity to become one of the most researched disorders this past decade. It is one of the most common genetic syndromes in humans, the most common contiguous gene syndrome in humans, the most common syndrome of cleft palate, and the most common syndrome of conotruncal heart malformations. Velo-cardio-facial syndrome has an expansive phenotype, a factor reflected in the wide range of studies that cover both clinical features and molecular genetics. In this review, we cover multiple areas of research during the past year, including psychiatric disorders, neuroimaging, and the delineation of clinical …