A Developmental Approach to Genetic Disorders


Sarah Paterson, Ph.D.
Rutgers University,
USA



Course Prerequisites:  

Basic knowledge of neuropsychology and brain, with some background in the area of language and cognition
   

Course Description:  

This course will focus on characterizing the developmental trajectories of individuals with neurodevelopmental disorders.  It will introduce the neuroconstructivist approach to cognitive development and will explore its application to several disorders. This approach emphasizes the developmental process rather than merely focusing on strengths and weaknesses in the endstate. Examples will be discussed that demonstrate how developmental disorders are a result of differences in development itself and that the static adult neuropsychological model, with its impaired and intact systems, is an inappropriate framework for these disorders.

Primary examples will be drawn from language and number development in Williams Syndrome. This disorder will be described in detail, tracing its development from genes to brain to cognition. Down Syndrome, Fragile X and Autism will also be considered.



Reading List

Paterson, S.J., Brown, J. H. , Gsödl, M. K. , Johnson, M. H. & Karmiloff-Smith, A. (1999). Cognitive Modularity and Genetic Disorders. Science, 286, 5448 Dec 17: 2355-235.  

Karmiloff-Smith, A. (1998). Development itself is the key to understanding developmental disorders. Trends in Cognitive Sciences, 2, 389-398.  

Karmiloff-Smith, A., Brown, J.H., Grice, S., & Paterson, S. (2003) Dethroning the myth: Cognitive dissociations and innate modularity in Williams syndrome. Developmental Neuropsychology, 23 (1&2), 229-24. 

Karmiloff-Smith, A. & Thomas, M. S. C. (2003) What can developmental disorders tell us about the neurocomputational constraints that shape development? The case of Williams syndrome.  Development & Psychopathology. Vol 15(4) Fall 2003, 969-990.  

Karmiloff-Smith, A., Grant, J., Ewing, S., Carette, M.J., Metcalfe, K., Donnai D., Read A.P., & Tassabehji, M. (2003) Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome. Journal of Medical Genetics. 40 (2), 136-140.

Karmiloff-Smith, A., Scerif, G., & Thomas, M.S.C. (2002). Different approaches to relating genotype to phenotype in developmental disorders. Developmental Psychobiology, 40, 311-322. 

Thomas, M. S. C. & Karmiloff-Smith, A. (2002). Are developmental disorders like cases of adult brain damage? Implications from connectionist modelling. Behavioral and Brain Sciences, Vol. 25 No. 6, 727-788.  

Temple, C.M. (1997). Cognitive neuropsychology and its application to children.  Journal of Child Psychology and Psychiatry, 38, 27-52.

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.
 
Mervis, C., & Bertrand, J. (1997). Developmental relations between cognition and language: Evidence from Williams syndrome. In L. B. Adamson, & M. A. Romski (Eds.), Research on communication and language disorders: Contributions to theories of language development (pp. 75-106). New York: Brookes.