Cognition, Language, Personality, and Genotype/Phenotype Relations in Williams Syndrome


Carolyn Mervis, Ph.D.
University of Louisville, USA

Course Prerequisites:  

Basic knowledge of cognitive development and neuroanatomy.
   
Course Description:  

This course will take place during the last two weeks of the Summer Institute session. The course will first address methodological aspects of research on individuals with mental retardation syndromes (about half of the first class). The next 2½ classes will focus on cognitive development, language development, and personality development of individuals who have Williams syndrome. Similarities and differences between individuals with Williams syndrome and those who have other syndromes (e.g., Down syndrome, Kabuki syndrome) or who are developing typically will be discussed. The final class will focus on the genetics of Williams syndrome and genotype/phenotype correlations regarding cognition and personality in Williams syndrome. In addition to discussing published findings from a number of laboratories studying Williams syndrome, new data from the instructor’s ongoing program of research on Williams syndrome will be presented. Throughout the course, methodological issues will be stressed. Opportunities for student discussion of assigned readings will be included in each class.

Reading List


Required
Class 1:

Mervis, C.B., & Klein-Tasman, B.P. (2004).  Methodological issues in group-matching designs: Alpha levels for control variable comparisons and measurement characteristics of control and target variables. Journal of Autism and Developmental Disorders, 34, 7-17. 


Piattelli-Palmarini, M. (2001). Speaking of learning: How do we acquire our marvelous facility for expressing ourselves in words? Nature, 411, 887-888. 
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Bates, E., Tager-Flusberg, H., Vicari, S., & Volterra, V. (2001). Debate over language’s link with intelligence. Nature, 413, 565-566. 

Bellugi, U., Marks, S., Bihrle, A., & Sabo, H. (1988/1993). Dissociation between language and cognitive functions in Williams syndrome. In D. Bishop & K. Mogford (Eds.), Language development in exceptional circumstances (pp. 177-189). London: Churchill Livingstone. Reprinted by Lawrence Erlbaum Associates, East Sussex, England, 1993. 


Morris, C. A. (2005). The dysmorphology, genetics, and natural history of Williams syndrome. In C. A. Morris, P. P. Wang, & H. Lenhoff (Eds.), Williams-Beuren syndrome: Research and clinical perspectives. Baltimore, MD: Johns Hopkins University Press. 

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. 


Laing, E., Butterworth, G., Ansari, D., Gsödl, M., Longhi, E., Panagiotaki, G., Paterson, S., & Karmiloff-Smith, A. (2002). Atypical development of language and social communication in toddlers with Williams syndrome. Developmental Science, 5, 233-246. 


Classes 2 and 3:
Paterson, S. (2001). Language and number in Down syndrome: The complex trajectory from infancy to adulthood. Down Syndrome Research and Practice, 7, 79-86. 

Landau, B., Hoffman, J. E., Reiss, J. E., Dilks, D. D., Lakusta, L., & Chunyo, G. (in press). Specialization, breakdown, and sparing in spatial cognition: Lessons from Williams syndrome. In C. A. Morris, P. P. Wang, & H. Lenhoff (Eds.), Williams-Beuren syndrome: Research and clinical perspectives. Baltimore, MD: Johns Hopkins University Press. 

Robinson, B. F., Mervis, C. B., & Robinson, B. W. (2003). The roles of verbal short-term memory and working memory in the acquisition of grammar by children with Williams syndrome. Developmental Neuropsychology, 23, 13-32. 


Mervis, C. B. (in press). Language abilities in Williams-Beuren syndrome. In C. A. Morris, P. P. Wang, & H. Lenhoff (Eds.), Williams-Beuren syndrome: Research and clinical perspectives. Baltimore, MD: Johns Hopkins University Press. 

Mervis, C. B., Morris, C. A., Klein-Tasman, B. P., Bertrand, J., Kwitny, S., Appelbaum, L. G., & Rice, C. E. (2003). Attentional characteristics of infants and toddlers with Williams syndrome during triadic interactions. Developmental Neuropsychology, 23, 245-270. 

Klein-Tasman, B. P., & Mervis, C. B. (2003). Distinctive personality characteristics of 8-, 9-, and 10-year-old children with Williams syndrome. Developmental Neuropsychology, 23, 271-292. 


Class 4:

Morris, C. A., Mervis, C. A., Hobart, H. H., Gregg, R. G., Bertrand, J., Ensing, G. J., Sommer, A., Moore, C. A., Hopkin, R. J., Spallone, P., Keating, M. T., Osborne, L., Kimberley, K. W., & Stock, A. D. (2003). GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype-phenotype analysis of 5 families with deletions in the Williams syndrome region. American Journal of Medical Genetics, 123A, 45-59. 

Reiss, A. L., Eliez, S., Schmitt, J. E., Straus, E, Lai, Z., Jones, W., & Bellugi, U. (2000). Neuroanatomy of Williams syndrome: A high-resolution MRI study. Journal of Cognitive Neuroscience, 12: Supplement, 65-73. 
 

Meyer-Lindenberg, A., Kohn, P., Mervis, C. B., Kippenhan, J. S., Olsen, R., Morris, C. A., & Berman, K. F. (2004). Neural basis of genetically determined visuospatial construction deficit in Williams syndrome. Neuron, 43, 623-631. 



Optional

Class 1:

Mervis, C. B., & Robinson, B. F. (2005). Designing measures for profiling and genotype/ phenotype studies of individuals with genetic syndromes or developmental language disorders. Applied Psycholinguistics, 26, 41-64. 

Bates, E. (2004). Explaining and interpreting deficits in language development across clinical groups: Where do we go from here? Brain and Language, 88, 245-253.  

 

Classes 2 and 3:

Klein, B. P., & Mervis, C. B. (1999). Cognitive strengths and weaknesses of 9- and 10-year-olds with Williams syndrome or Down syndrome. Developmental Neuropsychology, 16, 177-196. 

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, 604-628. 

Nichols, S., Jones, W., Roman, M. J., Wulfeck, B., Delis, D. C., Reilly, J., & Bellugi, U. (2004). Mechanisms of verbal memory impairment in four neurodevelopmental disorders Brain and Language, 88, 180-189. 


Laws, G., and Bishop, D. V. M. 2004. Pragmatic language impairment and social impairment in Williams syndrome: a comparison with Down’s syndrome and specific language impairment. International Journal of Language and Communication Disorders 39:45-64. 

Dykens, E. (2003) Anxiety, fears, and phobias in persons with Williams syndrome. Developmental Neuropsychology, 23, 291-316. 

 

Class 4:

Thompson, P. M., Lee, A. D., Dutton, R. A., Geaga, J. A., Hayashi, K. M., Eckert, M. A., Bellugi, U., Galaburda, A. M., Korenberg, J. R., Mills, D. L., Toga, A. W., & Reiss, A. L. (2005). Abnormal cortical complexity and thickness profiles mapped in Williams syndrome. Journal of Neuroscience, 25, 4146-4158.