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Language and Literacy Development in Individuals With Velo-cardio-facial Syndrome

Antshel, Kevin M. PhD; Marrinan, Eileen MS, MPH; Kates, Wendy R. PhD; Fremont, Wanda MD; Shprintzen, Robert J. PhD

doi: 10.1097/TLD.0b013e3181a72084

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 are very common in VCFS, and the most common compensatory articulation substitution in VCFS is the glottal stop.

Departments of Psychiatry and Behavioral Sciences (Drs Antshel, Kates, and Fremont) and Otolaryngology and Communication Sciences (Ms Marrinan and Dr Shprintzen), State University of New York–Upstate Medical University, Syracuse.

Corresponding Author: Kevin Antshel, PhD, Department of Psychiatry and Behavioral Sciences, State University of New York–Upstate Medical University, 750 East Adams St, Syracuse, NY 13210 (

© 2009 Lippincott Williams & Wilkins