Keywords

genetic syndrome, language, literacy, 22q11.2 deletion syndrome, VCFS

 

Authors

  1. Antshel, Kevin M. PhD
  2. Marrinan, Eileen MS, MPH
  3. Kates, Wendy R. PhD
  4. Fremont, Wanda MD
  5. Shprintzen, Robert J. PhD

Abstract

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.