title: The neurocognitive phenotype in velo-cardio-facial syndrome: a developmental perspective.
abstract: Although research has focused primarily on the wide range of variability in the cognitive phenotype between individuals with velo-cardio-facial syndrome (VCFS), we know relatively little about the extent to which within-individual expressions of the cognitive phenotype remain stable throughout development. General cognitive functioning in the low borderline range is the most consistent cognitive finding. Stronger reading decoding and spelling skills as well as auditory/verbal rote memory skills have been reported to be areas of relative strength. Conversely, significant visuospatial dysfunction, diminished math attainment, and executive dysfunction have all been reported as phenotypic. We propose several considerations that could advance our knowledge of developmental changes in the VCFS cognitive phenotype. The most salient of these is the need for more longitudinal designs with carefully matched control participants.
authors.affiliation: Department of Psychiatry and Behavioral Sciences, State University of New York, Upstate Medical University, Syracuse, NY 13210, USA. antshelk@upstate.edu
authors.forename: Kevin M
authors.initials: KM
authors.lastname: Antshel
authors.forename: Wanda
authors.initials: W
authors.lastname: Fremont
authors.forename: Wendy R
authors.initials: WR
authors.lastname: Kates
mesh_terms: D000293:Adolescent; D000328:Adult; D001289:Attention Deficit Disorder with Hyperactivity / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003072:Cognition Disorders / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology*; D004062:DiGeorge Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology*; D007859:Learning Disabilities / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology*; D008297:Male; D009483:Neuropsychological Tests; D010641:Phenotype