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Studying Development in Williams Syndrome: Progress, Prospects, and Challenges

  • Jo Van HerwegenEmail author
  • Harry Purser
  • Michael S.C. Thomas
  • WiSDom team
LETTER TO THE EDITOR

Williams syndrome (WS) is a genetic disorder caused by a deletion on the long arm of chromosome 7 spanning 1.5 million to 1.8 million base pairs. The disorder has a prevalence of about 1 in 20,000 live births and includes a specific clinical profile, comprising cardiovascular difficulties, idiopathic hypercalcaemia, and dysmorphic facial features amongst others. Behaviourally, individuals with WS have been described as very sociable with high empathy and little fear of strangers. They do, however, show a number of repetitive behaviours and experience anxiety and social difficulties. Cognitively individuals with WS are characterised by mild to moderate intellectual deficits with IQ scores ranging from 40 to 100 and an average Full Scale IQ score of 55 (Martens et al. 2008).

Although both being delayed from infancy onwards, language abilities in WS outperform non-verbal abilities such as visuo-spatial and number abilities (Mervis et al. 2000; Van Herwegen et al. 2011), and the...

Notes

References

  1. Bishop, D. (2003). The Test for Reception of Grammar - Version 2. London: Psychological Corporation.Google Scholar
  2. Doherty, B., Shimi, A., & Scerif, G. (2014). Genetic disorders as models of high neurocognitive risk. In J. Van Herwegen & D. Riby (Eds.), Neurodevelopmental disorders: research challenges and solutions (pp. 305–340). London: Psychology Press.Google Scholar
  3. Dunn, L., Dunn, L., Whetton, C., & Burley, J. (1997). British Picture Vocabulary Scale II. Windsor, Berkshire: NFER-Nelson Publishing Company.Google Scholar
  4. Elliott, C. D., Smith, P., & McCulloch, K. (1997). Technical manual British Ability Scales II. Windsor, Berkshire: NFER-NELSON Publishing Company.Google Scholar
  5. Jarrold, C., Baddeley, A. D., Hewes, A. K., & Phillips, C. (2001). A longitudinal assessment of diverging verbal and non-verbal abilities in the Williams syndrome phenotype. Cortex, 37(3), 423–431.CrossRefGoogle Scholar
  6. Karmiloff-Smith, A., D’Souza, D., Dekker, T., Van Herwegen, J., Xu, F., Rodic, M., & Ansari, D. (2012). Genetic and environmental vulnerabilities: the importance of cross-syndrome comparisons. PNAS, 190(2), 17261–17265.CrossRefGoogle Scholar
  7. Martens, M. A., Wilson, S. J., & Reutens, D. C. (2008). Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. Journal of Child Psychology and Psychiatry, 49(6), 576–608.CrossRefGoogle Scholar
  8. 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.CrossRefGoogle Scholar
  9. Purser, H., & Van Herwegen, J. (2016). Standardised and experimental psychological tasks: issues and solutions for research with children. In J. Prior & J. Van Herwegen (Eds.), Practical research with children (pp. 105–131). London: Psychology Press.Google Scholar
  10. Raven, J. (2007). Coloured Progressive Matrices. Oxford, UK: Oxford Psychologists Press Ltd.Google Scholar
  11. Thomas, M. S. C., Annaz, D., Ansari, D., Scerif, G., Jarrold, C., & Karmiloff-Smith, A. (2009). Using developmental trajectories to understand developmental disorders. Journal of Speech, Language, and Hearing Research, 52, 336–358.  https://doi.org/10.1044/1092-4388(2009/07-0144.CrossRefGoogle Scholar
  12. Thomas, M. S. C., Purser, H., & Van Herwegen, J. (2012). The developmental trajectories approach to cognition. In E. K. Farran & A. Karmiloff-Smith (Eds.), Neurodevelopmental disorders across the lifespan: a neuroconstructivist approach (pp. 13–36). Oxford: Oxford University Press.Google Scholar
  13. Van Herwegen, J., & Karmiloff-Smith, A. (2015). Genetic developmental disorders and numerical competence across the lifespan. In R. Cohen Kadosh & A. Dowker (Eds.), Oxford handbook of numerical cognition (pp. 721–731). Oxford: Oxford University Press.Google Scholar
  14. Van Herwegen, J., Rundblad, G., Davelaar, E. J., & Annaz, D. (2011). Variability and standardised test profiles in typically developing children and children with Williams syndrome. British Journal of Developmental Psychology, 29, 883–894.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Department of Psychology and Human DevelopmentUCL Institute of EducationLondonUK
  2. 2.Division of PsychologyNottingham Trent UniversityNottinghamUK
  3. 3.School of PsychologyBirkbeck University of LondonLondonUK

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