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What can developmental disorders tell us about the neurocomputational constraints that shape development? the case of Williams syndrome

By Annette Karmiloff-Smith and Michael S.C. Thomas

Abstract

The uneven cognitive phenotype in the adult outcome of Williams syndrome has led some researchers to make strong claims about the modularity of the brain and the purported genetically determined, innate specification of cognitive modules. Such arguments have particularly been marshaled with respect to language. We challenge this direct generalization from adult phenotypic outcomes to genetic specification and consider instead how genetic disorders provide clues to the constraints on plasticity that shape the outcome of development. We specifically examine behavioral studies, brain imaging, and computational modeling of language in Williams syndrome but contend that our theoretical arguments apply equally to other cognitive domains and other developmental disorders. While acknowledging that selective deficits in normal adult patients might justify claims about cognitive modularity, we question whether similar, seemingly selective deficits found in genetic disorders can be used to argue that such cognitive modules are prespecified in infant brains. Cognitive modules are, in our view, the outcome of development, not its starting point. We note that most work on genetic disorders ignores one vital factor, the actual process of ontogenetic development, and argue that it is vital to view genetic disorders as proceeding under different neurocomputational constraints, not as demonstrations of static modularity

Topics: psyc
Publisher: Cambridge Journals
Year: 2003
OAI identifier: oai:eprints.bbk.ac.uk.oai2:2885

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  1. (1996). 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. doi
  2. (1991). A cognitive and behavioural phenotype in Williams syndrome. doi
  3. (1993). A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7. doi
  4. (2000). A physical map, including a BAC/PAC clone contig of the Williams-Beuren Syndrome deletion region at 7qll.23. doi
  5. (2002). A study of relative clauses in Williams syndrome. doi
  6. (2002). Assumptions and Methods. In
  7. (2002). Atypical development of language and social communication in toddlers with Williams syndrome. doi
  8. (1997). Behavioral and emotional disturbance in individuals with Williams syndrome. doi
  9. (1992). Beyond modularity: A developmental perspective on cognitive science. doi
  10. (1991). Biology and Cognitive Development: The case of face recognition. doi
  11. (1998). Brain Biochemistry in Williams Syndrome. Evidence for a role of the cerebellum in cognition? doi
  12. (1993). Can a perceptual processing deficit explain the impairment of inflectional morphology in developmental dysphasia? A computational investigation.
  13. (1988). Cardiac anomalies in Williams-Beuren syndrome. doi
  14. (1999). Chomsky: Ideas and ideals. Cambridge: doi
  15. (1998). Cognitive functioning in adults with Williams syndrome. doi
  16. (1999). Cognitive modularity and genetic disorders.
  17. (1997). Cognitive neuropsychology and developmental disorders: Uncomfortable bedfellows. doi
  18. (2001). Compounding and inflection in language impairment: Evidence from Williams Syndrome (and SLI). doi
  19. (2001). Comprehension of spatial and non-spatial language in Williams syndrome. Paper presented at the Experimental Psychology Society,
  20. (1999). Configural and local face processing in children with Williams syndrome. doi
  21. (2003). Connectionist models of development, developmental disorders and individual differences. In
  22. (1992). Context, cortex and dopamine: A connectionist approach to behavior and biology in schizophrenia. doi
  23. (1997). Contrasting profiles of language development in children with Williams and Down syndromes. doi
  24. (1997). Crucial differences between developmental cognitive neuroscience and adult neuropsychology. doi
  25. (1994). Cytoarchitectonic anomalies in a genetically based disorder: Williams syndrome. doi
  26. (1996). Delineation of 7q11.2 deletions associated with WilliamsBeuren syndrome and mapping of repetitive sequences to within and to either side of the common deletion. doi
  27. (1994). Development and self-regulatory structures of the mind. doi
  28. (1998). Development itself is the key to understanding developmental disorders. doi
  29. (1993). Development of joint attention by a toddler with Williams syndrome.
  30. (1997). Developmental cognitive neuropsychology. doi
  31. (2001). Developmental Neuropsychology: A Clinical Approach. doi
  32. (1997). Developmental relations between cognition and language: Evidence from Williams Syndrome. In
  33. (2002). Different approaches to relating genotype to phenotype in developmental disorders. doi
  34. (2001). Disordered visual processing and oscillatory brain activity in autism and Williams Syndrome. doi
  35. (1977). Distinctive features, categorical perception, and probability learning: Some applications of a neural model. doi
  36. (2003). Double dissociations in developmental disorders? Theoretically misconceived, empirically dubious. doi
  37. (2002). Early categorization abilities in young children with Williams syndrome. doi
  38. (2002). Early puberty in Williams syndrome. doi
  39. (2003). Early word segmentation by infants and toddlers with Williams syndrome. doi
  40. (1999). Elevated ambulatory blood pressure in 20 subjects with Williams syndrome. doi
  41. (1988). From neuropsychology to mental structure. Cambridge: doi
  42. (2001). Genetic methods. In
  43. (2001). Genetic methods. In C.A.
  44. (1993). Hemizygosity at the elastin locus in a developmental disorder, Williams Syndrome. doi
  45. (1997). How the mind words. doi
  46. (2000). Hypersociability in Williams syndrome. doi
  47. (2000). Information from speech and gesture is integrated when meanings of new words are categorized in normal young children but not in children with Williams syndrome.
  48. (1996). Interaction between language and cognition: Evidence from Williams syndrome. In
  49. (1998). Knowledge enrichment and conceptual change in folk biology: Evidence from Williams syndrome. doi
  50. (1995). L1MK1 is predominantly expressed in neural tissue and phosphorylates serine, threonine and tyrosine residues in vitro.
  51. (2001). Language development in children with unilateral brain injury. In
  52. (2001). Learning to read in Williams syndrome: Looking beneath the surface of atypical reading development. doi
  53. (2002). Lexical skills in Williams syndrome: a cognitive neuropsychological analysis. doi
  54. (1996). LIM-kinase deleted in Williams syndrome. doi
  55. (1996). LIMkinase1 hemizygosity implicated in impaired visuospatial constructive cognition. doi
  56. (2002). Modelling typical and atypical cognitive development. In doi
  57. (1998). Modularity in developmental cognitive neuropsychology: Evidence from autism and Gilles de la Tourette syndrome. In
  58. (1996). Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.
  59. (2002). Naming in Williams syndrome. Manuscript submitted for publication.
  60. (1993). Natural history of Williams syndrome: Physical characteristics.
  61. (1998). Neural network analysis of learning in autism. doi
  62. (2002). Neural Plasticity: The effects of environment on the development of the cerebral cortex.
  63. (1981). Neuropsychological approaches to the study of reading. doi
  64. (1989). Nonverbal learning disabilities. doi
  65. (2001). Past tense formation in Williams syndrome. doi
  66. (1997). Personality characteristics and behaviour problems in individuals of different ages with Williams syndrome. doi
  67. (1997). Phonological short-term memory and its relationship to language in Williams syndrome. doi
  68. (1999). Phonology, reading acquisition, and dyslexia: Insights from connectionist models. doi
  69. (2002). Presentation to the Williams Syndrome Workshop,
  70. (1992). Pretence, autism, and the Theory-of-Mind-Module. doi
  71. (1992). Pretence, autism, and the Theory-of-Mind-Module. Current Directions in doi
  72. (1998). Reading the windows to the soul: Evidence of domain-specific sparing in Williams syndrome. doi
  73. (1998). Regulation of actin dynamics through phosphorylation of cofilin by LIM-kinase. doi
  74. (1996). Rethinking innateness: A connectionist perspective on development. doi
  75. (1991). Rules of language. doi
  76. (2002). Selective difficulties with spoken nouns and written verbs: A single case study. doi
  77. (1995). Selective impairment of the manipulation of arabic numerals. doi
  78. (1995). Semantic organization and word fluency in 9- and 10-year-old children with Williams syndrome [special issue].
  79. (2001). Spared numerical abilities in a case of semantic dementia. doi
  80. (2003). Spatial representation and attention in toddlers with Williams syndrome and Down syndrome. doi
  81. (1962). Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. doi
  82. (1961). Supravalvular aortic stenosis. doi
  83. (1987). Syndrome of non-verbal learning disabilities: The final common pathway of white matter disease/dysfunction. doi
  84. (1996). Syndrome of nonverbal learning disabilities: Psycholinguistic assets and deficits. doi
  85. (1998). Syndrome specific characteristics in Williams syndrome: To what extent do early behavioural patterns persist into adult life? doi
  86. (1998). Syntax and morphology in Williams syndrome. doi
  87. (2000). The development of language and number understanding in Williams Syndrome and Down's Syndrome: Evidence from the infant and mature phenotypes. Unpublished doctoral thesis.
  88. (2002). The development of semantic categories and metaphor comprehension in Williams syndrome. Manuscript in preparation.
  89. (1993). The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. doi
  90. (2002). The impact of social experience on neurobiological systems: illustration from a constructivist view of child maltreatment, doi
  91. (1994). The language instinct. doi
  92. (1995). The Mind of a Savant: Language, Learning and Modularity, doi
  93. (1949). The organization of behavior. doi
  94. (1996). The spectrum of ocular features in the Williams-Beuren syndrome. doi
  95. (2002). The Williams Syndrome Cognitive Profile. doi
  96. (2003). Using case study comparisons to explore genotype/phenotype correlations.
  97. (2001). Visual and visuospatial development in young children with Williams syndrome. doi
  98. (2001). What atypical populations can reveal about language development: The contrast between deafness and Williams syndrome. doi
  99. (2001). Why early linguistic milestones are delayed in children with Williams syndrome: late onset of hand banging as a possible rate-limiting constraint on the emergence of canonical babbling. doi
  100. (1999). William Syndrome: Findings from an integrated program of research.
  101. (2002). Williams syndrome cognitive profile also characterizes Velocardiofacial/DiGeorge Syndrome. doi
  102. (1994). Williams syndrome: an unusual neuropsychological profile. In doi
  103. (1993). Williams syndrome: Autosomal dominant inheritance. doi
  104. (2000). Williams syndrome: From genotype through to the cognitive phenotype. doi
  105. (1993). Williams-Beuren syndrome in monozygotic twins with variable expression. doi
  106. (1999). Williams-Beuren syndrome: genes and mechanisms.
  107. (2000). Word fluency in Williams syndrome: Evidence for unusual semantic organisation? doi
  108. (1997). Word learning in a special population: do individuals with Williams syndrome obey lexical constraints? doi
  109. (1999). Words and rules. doi

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