Skip to main content Accessibility help
  • Get access
    Check if you have access via personal or institutional login
  • Cited by 13
  • Print publication year: 2005
  • Online publication date: August 2009

8 - The cognitive spectrum in velo-cardio-facial syndrome


This chapter reviews the different studies of cognition in velo-cardio-facial syndrome (VCFS), in order to delineate the cognitive phenotype of individuals with VCFS. In order to investigate the underlying basis of the observed impairments as well as areas of relative proficiency in intellectual and academic ability, it is important to use tasks specifically designed to tap into these neuropsychological functions. From the previous reported deficits of nonverbal and mathematical abilities from psychoeducational measures, it is clear that further analysis of spatial cognition in this population is required. Delayed speech and language development is one of the most consistent features in VCFS and a major concern to parents of children with VCFS. The majority of studies of cognition in VCFS have focused on psychoeducational profiles and communicative skills in children with VCFS in order to identify appropriate remedial approaches to the needs of this group.
Ashcraft, M. (1995) Cognitive psychology and simple arithmetic: a review and summary of new directions. Math. Cogn., 1, 3–34.
Bellugi, U., Marks, S., Bihrle, A. et al. (1988) Dissociations between language and cognitive functions in Williams syndrome. In Bishop, D. & Mogford, K., eds., Language Development in Exceptional Circumstances. London: Churchill Livingstone.
Bull, J. & Scerif, G. (2001) Executive functioning as a predictor of children's mathematics ability: inhibition, switching and working memory. Dev. Neuropsychol., 19, 273–93.
Butterworth, B. (1999) The Mathematical Brain. London: Macmillan.
Campbell, L., Stevens, A., Morris, R. et al. (2002) Cognitive phenotype of children with velo-cardio-facial syndrome (VCFS). In 8th Annual Meeting of the Velo-Cardio-Facial Syndrome Educational Foundation, 26–28 July, Northampton, UK.
Smedt, B., Swillen, A., Ghesquiere, P. et al. (2003) Pre-academic and early academic achievement in children with velocardiofacial syndrome (del22q11.2) of borderline or normal intelligence. Genet. Counsel., 14, 15–29.
Dehaene, S. (1997) The Number Sense. Oxford: Oxford University Press.
Dehaene, S. & Cohen, L. (1997) Cerebral pathways for calculation: double dissociation between rote verbal and quantitative knowledge of arithmetic. Cortex, 33, 219–50.
Driscoll, D. A., Spinner, N. B., Budarf, M. al. (1992) Deletions and microdeletions of 22q11 in velo-cardio-facial syndrome. Am. J. Med. Genet., 44, 261–8.
Eliez, S., Palacieo-Espasa, F., Spira, al. (2000) Young children with velo-cardio-facial syndrome (CATCH-22) psychological and language phenotypes. Eur. Child. Adolesc. Psychiatry, 9, 109–14.
Eliez, S., Antonarakis, S. E., Morris, M. al. (2001) Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome (VCFS): a preliminary study. Arch. Gen. Psychiatry, 58, 64–8.
Flint, J. (1996) Annotation: behavioural phenotypes: a window onto the biology of behaviour. J. Child Psychol. Psychiatry Allied Disc., 37, 355–67.
Fuerst, K. B., Dool, C. B. & Rourke, B. P. (1995) Velocardiofacial syndrome. In Rourke, B., ed., Syndrome of Nonverbal Learning Disabilities; Neurodevelopmental Manifestations. New York: Guilford Press.
Geary, D., Brown, S. & Va, S. (1991) Cognitive addition: a short longitudinal study of strategy choice and speed-of-processing differences in normal and mathematically disabled children. Dev. Psychol., 27, 787–97.
Gerdes, M., Solot, C., Wang, P. al. (1999) Cognitive and behaviour profile of pre-school children with chromosome 22q11.2 deletion. Am. J. Med. Genet., 85, 127–33.
Gerdes, M., Solot, C., Wang, P. al. (2001) Taking advantage of early diagnosis: preschool children with the 22q11.2 deletion. Genet. Med., 3, 40–4.
Glaser, B., Mumme, D. L., Blasey, al. (2002) Language skills in children with velocardiofacial syndrome (deletion 22q11.2). J. Pediatr., 140, 753–8.
Golding-Kushner, K., Weller, G. & Shprintzen, R. (1985) Velo-cardio-facial syndrome: language and psychological profiles. J. Craniofac. Genet. Dev. Biol., 5, 259–66.
Heaton, R. (1981) Wisconsin Card Sorting Test Manual. Odessa, FL: Psychological Assessment Resources.
Henry, J. C., Amelsvoort, T., Morris, R. al. (2002) An investigation of the neuropsychological profile in adults with velo-cardio-facial syndrome (VCFS). Neuropsychologia, 40, 471–8.
Horn, J. (1985) Remodeling old models of intelligence. In Wolman, B. B., ed., Handbook of Intelligence, Theories, Measurements and Applications. Chichester: John Wiley & Sons.
Horn, J. & Cattell, R. (1966) Refinement and test of the theory of fluid and crystallized intelligence. Acta Psychol (Amst), 26, 107–29.
Karmiloff-Smith, A. (1998) Development itself is the key to understanding developmental disorders. Trends Cogn. Sci., 2, 389–98.
Lezak, D. (1995) Neuropsychological Assessment, Third Ed. Oxford: Oxford University Press.
Lipson, A. H., Yuille, D., Angel, al. (1991) Velo-cardio-facial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise. J. Med. Genet., 28, 596–604.
Morris, R., Downes, J., Sahakian, al. (1988) Planning and spatial working memory in Parkinson's disease. J. Neurol. Neurosurg. Psychiatry, 51, 757–66.
Morris, R., Downes, J. & Robbins, T. (1990) The nature of the dysexecutive syndrome in Parkinson's disease. In Gilhhly, K., Keane, M., Logie, R. & Erdos, G., eds., Lines of thinking. New York, NY: John Wiley & Sons Ltd.
Moss, E. M., Batshaw, M. L., Solot, C. al. (1999) Psychoeducational profile of the 22q11.2 microdeletion: a complex pattern. J. Pediatr., 134, 193–8.
Owen, A., Morris, R., Sahakian, al. (1996) Double dissociation of memory and executive functions in working memory tasks following frontal lobe excisions, temporal lobe excisions or amygdalo-hippocampectomy in man. Brain, 119, 1597–615.
Passolunghi, M. & Siegel, L. (2001) Short-term memory, working memory and inhibitory control in children with difficulties in arithmetic problem solving. J. Exp. Child Psychol., 80, 44–57.
Rapport, L. J., Millis, S. R. & Bonello, P. J. (1998) Validation of the Warrington theory of visual processing and the visual object and space perception battery. J. Clin. Exp. Neuropsychol., 20, 211–20.
Rey, A. (1958) L'Examen Clinique en Psychologie. Paris: Presses Universitaires de Frances.
Rourke, B. (1987) Syndrome of nonverbal learning disabilities. The final common pathway of white-matter disease/dysfunction? Clin. Neuropsychol., 1, 209–34.
Rourke, B.(1988) Syndrome of nonverbal learning disabilities. Developmental manifestations in neurological disease, disorder, and dysfunction. Clin. Neuropsychol., 2, 293–330.
Rourke, B.(1989) Nonverbal Learning Disabilities: the Syndrome and the Model. New York, NY: Guilford Press.
Rourke, B.(1995) Syndrome of Nonverbal Learning Disabilities: Neurodevelopmental Manifestations. New York, NY: Guilford Press.
Rourke, B., Young, G. & Leenaars, A. (1989) A childhood learning disability that predisposes those afflicted to adolescent and adult depression. J. Learn. Disabil., 22.
Rovet, J., Szekely, C. & MN, H. (1994) Specific arithmetic calculation deficits in children with Turner syndrome. J. Clin. Exp. Neuropsychol., 16, 820–39.
Scambler, P., Carey, A., Wuse, al. (1991) Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics, 10, 201–6.
Scherer, N. J., D'Antonio, L. L. & Kalbfleisch, J. H. (1999) Early speech and language development in children with velo-cardio-facial syndrome. Am. J. Med. Genet., 88, 714–23.
Shallice, T. (1982) Specific impairments of planning. Philos. Trans. R. Soc. Lond. Biol Sci, 199–209.
Shprintzen, R. J., Goldberg, R. B., Young, al. (1981) The velo-cardio-facial syndrome: a clinical and genetic analysis. Pediatrics, 67, 167–72.
Siegel, S. & Ryan, E. (1989) The development of working memory in normally achieving and subtypes of learning disabled children. Child Dev., 60, 973–80.
Simon, T., Bearden, C. E., McGinn, al. (2005) Visuospatial and numerical cognitive deficits in children with chromosome 22q11.2 deletion syndrome. Cortex., 41, 145–55.
Solot, C. B., Gerdes, M., Kirschner, R. al. (2001) Communication issues in 22q11.2 deletion syndrome: children at risk. Genet. Med., 3, 67–71.
Stalmans, I., Lambrechts, D., Smet, al. (2003) VEGF: a modifier of the del22q11 (DiGeorge) syndrome? Nat. Med., 9, 173–82.
Swillen, A. (2001) The behavioural phenotype in velo-cardio-facial syndrome: from infancy to adolescence [Doctoral thesis]. Leuven: Acco Leuven, University of Leuven.
Swillen, A., Fryns, J., A, al. (1993) Intelligence, behaviour and psychosocial development in Turner syndrome. A cross-sectional study of 50 pre-adolescent and adolescent girls (4–20 years). Genet. Couns., 4, 7–18.
Swillen, A., Devriendt, K., Legius, al. (1997) Intelligence and psychosocial adjustment in velo-cardio-facial syndrome: a study of 37 children and adolescents with VCFS. J. Med. Genet., 34, 453–8.
Swillen, A., Devriendt, K., Legius, al. (1999a) The behavioral phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence. Genet. Couns., 10, 79–88.
Swillen, A., Vandeputte, L., Cracco, al. (1999b) Neuropsychological, learning and psychosocial profile of primary school aged children with the velo-cardio-facial syndrome (22q11 deletion): evidence for a nonverbal learning disability? Child Neuropsychol., 5, 230–41.
Swillen, A., Vogels, A., Devriendt, al. (2000) Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications. Am. J. Med. Genet., 97, 128–35.
Udwin, O. & Yule, W. (1991) A cognitive and behavioral phenotype in Williams syndrome. J. Clin. Exp. Neuropsychol., 13, 232–44.
Udwin, O., Davies, M. & Howlin, P. (1996) A longitudinal study of cognitive and education attainment in Williams syndrome. Dev. Med. Child Neurol., 38, 1020–9.
Vos, P. (1988) Bourdon Vos test: Handleiding. Lisse: Swets & Zeitlinger.
Wang, P. P., Woodin, M. F., Kreps-Falk, al. (2000) Research on behavioral phenotypes: velocardiofacial syndrome (deletion 22q11). Dev. Med. Child Neurol., 42, 422–7.
Wechsler, D. (1989) Wechsler Preschool and Primary Scales of Intelligence-Revised. San Antonio, TX: Psychological Corporation.
Wechsler, D.(1991) Wechsler Intelligence Scales for Children – Third Edition. San Antonio, TX: The Psychological Corporation.
Weigl, E. (1941) On the psychology of so-called processes of abstraction. J. Abnorm. Social Psychol., 36, 3–33.
Woodin, M., Wang, P., Aleman, al. (2001) Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion. Genet. Med., 3, 34–9.