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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1997 Jun;34(6):453–458. doi: 10.1136/jmg.34.6.453

Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.

A Swillen 1, K Devriendt 1, E Legius 1, B Eyskens 1, M Dumoulin 1, M Gewillig 1, J P Fryns 1
PMCID: PMC1050966  PMID: 9192263

Abstract

We report data on a group of 37 VCFS patients with specific reference to their intelligence, behaviour, and social competence. Fifty five percent of the children had a borderline to normal IQ. Mental retardation (defined as IQ < 70 or > -2 SD below the mean) was found in 45%. In the majority, the mental retardation was mild (38%) and only two patients had moderate mental retardation. Severe mental retardation seems to be rare in VCFS. The present study shows also that the incidence of mental retardation is much higher in the familial than the de novo group. Intelligence is not correlated with the presence or absence of a heart defect. Significantly higher verbal IQs than performance IQs (probably related to deficits in visuospatial-perceptual functioning) were found. Problems in social-emotional functioning and attention were also found. Further longitudinal studies are necessary to provide an accurate prognosis and appropriate intervention for VCFS children.

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Selected References

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  1. Devriendt K., Eyskens B., Swillen A., Dumoulin M., Gewillig M., Fryns J. P. The incidence of a deletion in chromosome 22Q11 in sporadic and familial conotruncal heart disease. Eur J Pediatr. 1996 Aug;155(8):721–721. doi: 10.1007/BF01957162. [DOI] [PubMed] [Google Scholar]
  2. Goldberg R., Motzkin B., Marion R., Scambler P. J., Shprintzen R. J. Velo-cardio-facial syndrome: a review of 120 patients. Am J Med Genet. 1993 Feb 1;45(3):313–319. doi: 10.1002/ajmg.1320450307. [DOI] [PubMed] [Google Scholar]
  3. Golding-Kushner K. J., Weller G., Shprintzen R. J. Velo-cardio-facial syndrome: language and psychological profiles. J Craniofac Genet Dev Biol. 1985;5(3):259–266. [PubMed] [Google Scholar]
  4. Lipson A. H., Yuille D., Angel M., Thompson P. G., Vandervoord J. G., Beckenham E. J. Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise. J Med Genet. 1991 Sep;28(9):596–604. doi: 10.1136/jmg.28.9.596. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Mitnick R. J., Bello J. A., Shprintzen R. J. Brain anomalies in velo-cardio-facial syndrome. Am J Med Genet. 1994 Jun 15;54(2):100–106. doi: 10.1002/ajmg.1320540204. [DOI] [PubMed] [Google Scholar]
  6. Motzkin B., Marion R., Goldberg R., Shprintzen R., Saenger P. Variable phenotypes in velocardiofacial syndrome with chromosomal deletion. J Pediatr. 1993 Sep;123(3):406–410. doi: 10.1016/s0022-3476(05)81740-8. [DOI] [PubMed] [Google Scholar]
  7. Pennington B. F., Heaton R. K., Karzmark P., Pendleton M. G., Lehman R., Shucard D. W. The neuropsychological phenotype in Turner syndrome. Cortex. 1985 Sep;21(3):391–404. doi: 10.1016/s0010-9452(85)80004-6. [DOI] [PubMed] [Google Scholar]
  8. Scambler P. J., Kelly D., Lindsay E., Williamson R., Goldberg R., Shprintzen R., Wilson D. I., Goodship J. A., Cross I. E., Burn J. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet. 1992 May 9;339(8802):1138–1139. doi: 10.1016/0140-6736(92)90734-k. [DOI] [PubMed] [Google Scholar]
  9. Shprintzen R. J., Goldberg R. B., Lewin M. L., Sidoti E. J., Berkman M. D., Argamaso R. V., Young D. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J. 1978 Jan;15(1):56–62. [PubMed] [Google Scholar]
  10. Shprintzen R. J., Goldberg R. B., Young D., Wolford L. The velo-cardio-facial syndrome: a clinical and genetic analysis. Pediatrics. 1981 Feb;67(2):167–172. [PubMed] [Google Scholar]
  11. Shprintzen R. J., Goldberg R., Golding-Kushner K. J., Marion R. W. Late-onset psychosis in the velo-cardio-facial syndrome. Am J Med Genet. 1992 Jan 1;42(1):141–142. doi: 10.1002/ajmg.1320420131. [DOI] [PubMed] [Google Scholar]
  12. Swillen A., Fryns J. P., Kleczkowska A., Massa G., Vanderschueren-Lodeweyckx M., Van den Berghe H. Intelligence, behaviour and psychosocial development in Turner syndrome. A cross-sectional study of 50 pre-adolescent and adolescent girls (4-20 years). Genet Couns. 1993;4(1):7–18. [PubMed] [Google Scholar]
  13. Waber D. P. Neuropsychological aspects of Turner's syndrome. Dev Med Child Neurol. 1979 Feb;21(1):58–70. doi: 10.1111/j.1469-8749.1979.tb01581.x. [DOI] [PubMed] [Google Scholar]
  14. Wadey R., Daw S., Wickremasinghe A., Roberts C., Wilson D., Goodship J., Burn J., Halford S., Scambler P. J. Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134). J Med Genet. 1993 Oct;30(10):818–821. doi: 10.1136/jmg.30.10.818. [DOI] [PMC free article] [PubMed] [Google Scholar]

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