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Communication Sciences and Disorders Commons™
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Full-Text Articles in Communication Sciences and Disorders
Comparing Phenotypes In Patients With Idiopathic Autism To Patients With Velocardiofacial Syndrome (22q11 Ds) With And Without Autism, Wendy Kates, Kevin Antshel, Wanda Fremont, Robert Shprintzen, Leslie Strunge, Courtney Burnette, Anne Marie Higgins
Comparing Phenotypes In Patients With Idiopathic Autism To Patients With Velocardiofacial Syndrome (22q11 Ds) With And Without Autism, Wendy Kates, Kevin Antshel, Wanda Fremont, Robert Shprintzen, Leslie Strunge, Courtney Burnette, Anne Marie Higgins
Robert J. Shprintzen
At least three research groups have reported that autism is diagnosed in up to 20% of children with velocardiofacial syndrome (VCFS). However the degree of phenotypic overlap between VCFS-affected children with autism and those with idiopathic autism has not been established. The purpose of this study was to define and differentiate the behavioral phenotype of autism in samples of children with either (VCFS) or idiopathic autism. Five groups of children ages 5–15 were included in the between-group design. Parent report of autism behaviors (based on the Autism Diagnostic Interview-Revised, ADI-R) were compared between children with VCFS, children with VCFS and …
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 …