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Communication Sciences and Disorders Commons™
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- Velocardiofacial syndrome (3)
- Chromosome 22 (2)
- VCFS (2)
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Articles 1 - 5 of 5
Full-Text Articles in Communication Sciences and Disorders
Language And Literacy Development In Individuals With Velo‐Cardio‐Facial Syndrome, Kevin Antshel, Eileen Marrinan, Wendy Kates, Wanda Fremont, Robert Shprintzen
Language And Literacy Development In Individuals With Velo‐Cardio‐Facial Syndrome, Kevin Antshel, Eileen Marrinan, Wendy Kates, Wanda Fremont, Robert Shprintzen
Robert J. Shprintzen
Velo-cardio-facial syndrome (VCFS) is a genetic disorder caused by a microdeletion of chromosome 22q11.2. Although there is some variability, VCFS is associated with a characteristic physical, behavioral, and cognitive phenotype. This review article focuses on aspects of language and literacy development in VCFS, describing what is known and offering avenues for future research. The most consistently reported language and literacy findings in the VCFS population include reading, spelling, phonological processing, and auditory verbal rote memory abilities as areas of relative strength. Receptive language abilities are noted to be relatively stronger than expressive language abilities in individuals with VCFS. Speech disorders …
Atlas-Based White Matter Analysis In Individuals With Velo-Cardio-Facial Syndrome (22q11.2 Deletion Syndrome) And Unaffected Siblings, Petya Radoeva, Ioana Coman, Kevin Antshel, Wanda Fremont, Christopher Mccarthy, Ashwini Kotkar, Dongliang Wang, Robert Shprintzen, Wendy Kates
Atlas-Based White Matter Analysis In Individuals With Velo-Cardio-Facial Syndrome (22q11.2 Deletion Syndrome) And Unaffected Siblings, Petya Radoeva, Ioana Coman, Kevin Antshel, Wanda Fremont, Christopher Mccarthy, Ashwini Kotkar, Dongliang Wang, Robert Shprintzen, Wendy Kates
Robert J. Shprintzen
Background: Velo-cardio-facial syndrome (VCFS, MIM#192430, 22q11.2 Deletion Syndrome) is a genetic disorder caused by a deletion of about 40 genes at the q11.2 band of one copy of chromosome 22. Individuals with VCFS present with deficits in cognition and social functioning, high risk of psychiatric disorders, volumetric reductions in gray and white matter (WM) and some alterations of the WM microstructure. The goal of the current study was to characterize the WM microstructural differences in individuals with VCFS and unaffected siblings, and the correlation of WM microstructure with neuropsychological performance. We hypothesized that individuals with VCFS would have decreased indices …
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 …
Genomic Disorders On Chromosome 22, Shihui Yu, William Graf, Robert Shprintzen
Genomic Disorders On Chromosome 22, Shihui Yu, William Graf, Robert Shprintzen
Robert J. Shprintzen
Purpose of review: Chromosome 22, the first human chromosome to be completely sequenced, is prone to genomic alterations. Copy-number variants (CNVs) are common because of an enrichment of low-copy repeat sequences that precipitate a high frequency of nonallelic homologous misalignments and unequal recombination during meiosis. Among these is one of the most common multiple anomaly syndromes in humans and the most common microdeletion syndrome, velocardiofacial syndrome (VCFS), also known as 22q11.2 deletion syndrome and DiGeorge syndrome. This review will focus on the recent literature dealing with both the molecular and clinical aspects of chromosome 22 genomic variations. Although the literature …
Individual Characteristics And Their Effect On Predicting Mu Rhythm Modulation, Adriane Randolph, Melody Jackson, Saurav Karmakar
Individual Characteristics And Their Effect On Predicting Mu Rhythm Modulation, Adriane Randolph, Melody Jackson, Saurav Karmakar
Adriane B. Randolph
Brain-computer interfaces (BCIs) offer users with severe motor disabilities a nonmuscular input channel for communication and control but require that users achieve a level of literacy and be able to harness their appropriate electrophysiological responses for effective use of the interface. There is currently no formalized process for determining a user's aptitude for control of various BCIs without testing on an actual system. This study presents how basic information captured about users may be used to predict modulation of mu rhythms, electrical variations in the motor cortex region of the brain that may be used for control of a BCI. …