Encyclopedia of Autism Spectrum Disorders

Living Edition
| Editors: Fred R. Volkmar

Williams Syndrome

  • Faye van der Fluit
  • Bonita P. Klein-Tasman
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-6435-8_1629-5


Short Description or Definition

Williams syndrome (WS) is a neurodevelopmental disorder caused by a hemizygous deletion of approximately 25 genes on chromosome 7q.23. Although some variability is common, characteristic physical, cognitive, and personality profiles do exist within WS. Physical characteristics include dysmorphic facial features, short stature, musculoskeletal problems, and connective tissue abnormalities including congenital heart conditions. Cognitive features generally include impaired intellectual functioning (within the mild range of intellectual disability), with a marked weakness in visuospatial constructive abilities. Language development is typically delayed, but language abilities generally ultimately fall at the same level as overall functioning. Personality features include overfriendliness and sociability despite impaired social skills. Attention problems and anxiety are common.


Results of FISH testing are used...


Autism Spectrum Disorder Intellectual Disability Williams Syndrome Specific Language Impairment Fetal Alcohol Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
This is a preview of subscription content, log in to check access.

References and Reading

  1. American Academy of Pediatrics Committee on Genetics. (2001). Healthcare supervision for children with Williams syndrome. Pediatrics, 107, 1192–1204.Google Scholar
  2. Beuren, A. J., Apitz, J., & Harmjanz, D. (1962). Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation, 26, 1235–1240.PubMedCrossRefGoogle Scholar
  3. Elliott, C. (2007). Differential ability scales (2nd ed.). San Antonio: Harcourt Assessment.Google Scholar
  4. Ewart, A. K., Morris, C. A., Atkinson, D., Jin, W., Sternes, K., Spallone, P., et al. (1993). Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature Genetics, 5(1), 11–16.PubMedCrossRefGoogle Scholar
  5. For more information, see the Williams Syndrome Association website: www.williams-syndrome.org. Retrieved May 1, 2012.
  6. Frangiskakis, J. M., Ewart, A. K., Morris, C. A., Mervis, C. B., Bertrand, J., Robinson, B. F., et al. (1996). LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell, 86(1), 59–69.PubMedCrossRefGoogle Scholar
  7. Gosch, A., & Pankau, R. (1994). “Autistic” behavior in two children with Williams-Beuren syndrome. American Journal of Medical Genetics, 53, 83–84.PubMedCrossRefGoogle Scholar
  8. Herguner, S., & Mukaddes, N. M. (2006). Autism and Williams syndrome: A case report. The World Journal of Biological Psychiatry, 7(3), 186–188.PubMedCrossRefGoogle Scholar
  9. Klein-Tasman, B. P., Mervis, C. B., Lord, C. E., & Phillips, K. D. (2007). Socio-communicative deficits in young children with Williams syndrome: Performance on the autism diagnostic observation schedule. Child Neuropsychology, 13, 444–467.PubMedCrossRefGoogle Scholar
  10. Klein-Tasman, B. P., Gallo, F. J., Phillips, K. D., & Fine, K. M. (2008). It helps to know genetic basis: Williams syndrome as an example of cognitive disability. In J. Apps, R. F. Newby, & L. Roberts (Eds.), Telling stories: Pediatric neuropsychology case studies from the exceptional to the commonplace. New York: Springer.Google Scholar
  11. Klein-Tasman, B. P., Phillips, K. D., Lord, C., Mervis, C. B., & Gallo, F. J. (2009). Overlap with the autism spectrum in young children with Williams syndrome. Journal of Developmental and Behavioral Pediatrics, 30(4), 289–299.PubMedPubMedCentralCrossRefGoogle Scholar
  12. Klein-Tasman, B. P., Li-Barber, K. T., & Magargee, E. T. (2010). Honing in on the social phenotype in Williams syndrome using multiple measures and multiple raters. Journal of Autism and Developmental Disorders, 41(3), 341–351.CrossRefGoogle Scholar
  13. Laing, E., Butterworth, G., Ansari, D., Gsödl, M., Longhi, E., Panagiotaki, G., et al. (2002). Atypical development of language and social communication in toddlers with Williams syndrome. Developmental Science, 5(2), 233–246.CrossRefGoogle Scholar
  14. Laws, G., & Bishop, D. (2004). Pragmatic language impairment and social deficits in Williams syndrome: A comparison with Down’s syndrome and specific language impairment. International Journal of Language & Communication Disorders, 39(1), 45–64.CrossRefGoogle Scholar
  15. Mervis, C. B., & Klein-Tasman, B. P. (2000). Williams syndrome: Cognition, personality, and adaptive behavior. Mental Retardation and Developmental Disabilities Research Reviews, 6, 148–158.PubMedCrossRefGoogle Scholar
  16. Mervis, C. B., & Morris, C. A. (2007). Williams syndrome. In M. M. Mazzocco & J. L. Ross (Eds.), Neurogenetic developmental disorders: Variations of manifestations in childhood. London: MIT Press.Google Scholar
  17. Mervis, C. B., Robinson, B. F., Bertrand, J., Morris, C. A., Klein-Tasman, B. P., & Armstrong, S. C. (2000). The Williams syndrome cognitive profile. Brain and Cognition, 44(3), 604–628.PubMedCrossRefGoogle Scholar
  18. Mervis, C. B., Klein-Tasman, B. P., & Mastin, M. E. (2001). Adaptive behavior of 4- through 8-year-old children with Williams syndrome. American Journal of Mental Retardation, 106(1), 82–93.PubMedCrossRefGoogle Scholar
  19. Morris, C. A. (2006a). The dysmorphology, genetics, and natural history of Williams-Beuren syndrome. In C. A. Morris, H. M. Lenhoff, & P. P. Wang (Eds.), Williams-Beuren syndrome: Research, evaluation, and treatment (pp. 3–17). Baltimore: John Hopkins University Press.Google Scholar
  20. Morris, C. A. (2006b). Williams syndrome [WS]. GeneClinics: Medical genetics knowledge base web site. Retrieved January 12, 2009, from http://www.geneclinics.org/
  21. Morris, C. A., Mervis, C. B., Hobart, H. H., Gregg, R. G., Bertrand, J., Ensing, G. J., et al. (2003). GTF21 hemizygosity implicated in mental retardation in Williams syndrome: Genotype-phenotype analysis of five families with deletions in the Williams syndrome region. American Journal of Medical Genetics Part A, 123A(1), 45–59.PubMedCrossRefGoogle Scholar
  22. Phillips, K. D., & Klein-Tasman, B. P. (2009). Mental health concerns in Williams syndrome: Intervention considerations and illustrations from case examples. Journal of Mental Health Research in Intellectual Disabilities, 2, 110–133.CrossRefGoogle Scholar
  23. Philofsky, A., Fidler, D. J., & Hepburn, S. (2007). Pragmatic language profiles of school-age children with autism spectrum disorders and Williams syndrome. American Journal of Speech-Language Pathology, 16, 368–380.PubMedPubMedCentralCrossRefGoogle Scholar
  24. Reiss, A. L., Feinstein, C., Rosenbaum, K. N., Borgengasser-Caruso, M. A., & Goldsmith, B. M. (1985). Autism associated with Williams syndrome. Journal of Pediatrics, 106(2), 247–249.PubMedCrossRefGoogle Scholar
  25. Stojanovic, V. (2006). Social interaction deficits and conversational inadequacy in Williams syndrome. Journal of Neurolinguistics, 19, 157–173.CrossRefGoogle Scholar
  26. Stromme, P., Bjornstad, P. G., & Ramstad, K. (2002). Prevalence estimation of Williams syndrome. Journal of Child Neurology, 17(4), 269–271.PubMedCrossRefGoogle Scholar
  27. Williams, J. C. P., Barrat-Boyes, B. G., & Lowe, J. B. (1961). Supravalvular aortic stenosis. Circulation, 24, 1311–1318.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.Department of PsychologyUniversity of Wisconsin, MilwaukeeMilwaukeeUSA