Annette Karmiloff-Smith

If You Want to Get Ahead, Get A Theory.

Although Genevan research has provided a detailed analysis of cognitive structures, our knowledge of cognitive processes remains fragmentary. The focus is now not only on macro-development but also on changes occurring in childrens spontaneous action sequences in micro-formation. A series of experiments designed to study goal-oriented behavior is in progress. This paper describes the action sequences of 67 subjects between 4;6 and 9;5 years in a block balancing task. It is not a study of childrens understanding of a specific notion in physics, but an attempt to pave the way towards understanding the more general processes of cognitive behavior. The analysis focuses on the interplay between the childs action sequences and his implicit theories which the observer infers from the sequences rather than from his verbal comments. Emphasis is placed on the role of counterexamples and on shifts in attention from goal to means. The construction and overgeneralization of ‘theories-in-action’ appear to be dynamic and general processes which are not stage-linked. The results also suggest certain functional rather than structural analogies between the acquisition of physical knowledge and the acquisition of language.

Disordered visual processing and oscillatory brain activity in autism and Williams syndrome.

Two developmental disorders, autism and Williams syndrome, are both commonly described as having difficulties in integrating perceptual features, i.e. binding spatially separate elements into a whole. It is already known that healthy adults and infants display electroencephalographic (EEG) γ-band bursts (around 40 Hz) when the brain is required to achieve such binding. Here we explore γ-band EEG in autism and Williams Syndrome and demonstrate differential abnormalities in the two phenotypes. We show that despite putative processing similarities at the cognitive level, binding in Williams syndrome and autism can be dissociated at the neurophysiological level by different abnormalities in underlying brain oscillatory activity. Our study is the first to identify that binding-related γ EEG can be disordered in humans.

Constraints on representational change: evidence from children's drawing

This paper uses childrens drawing as clues to general constraints on internal representational change and flexibility. Fifty-four children between 4 and 11 years of age each produced six drawings. They were first asked to draw a house, and then to draw a house that does not exist. The same procedure was used for man and animal. The technique forced children into operating on their normal, efficient drawing procedures, and allowed the researcher to ascertain the types of constraint that obtain on representational change and flexibility. Striking developmental differences emerged between the 4- to 6-year-old age group and the 8- to 10-year-old age group. Changes introduced by the younger children involved deletions and changes in size and shape, whereas older children changed position and orientation of elements and added elements from other conceptual categories, resulting in ever-increasing inter-representational flexibility. Development is accounted for in terms of reiterated cycles of change from internal representations specified as a sequentially fixed list, embodying a constraint that was inherent in the earlier procedural representations, to internal representations specified as a structured, yet flexibly ordered set of manipulable features. The constraints are considered to be general and are compared with work on seriation and number in children, and on phonological awareness and musical ability in adults. The results are integrated into a general model of developmental change which is compatible both with initial modularity and with subsequent domain-general constraints.

Is there a social module? language, face processing, and theory of mind in individuals with williams syndrome

Many species can respond to the behavior of their conspecifics. Human children, and perhaps some nonhuman primates, also have the capacity to respond to the mental states of their conspecifics, i.e., they have a theory of mind. On the basis of previous research on the theory-of-mind impairment in people with autism, together with animal models of intentionality, Brothers and Ring (1992) postulated a broad cognitive module whose function is to build representations of other individuals. We evaluate the details of this hypothesis through a series of experiments on language, face processing, and theory of mind carried out with subjects with Williams syndrome, a rare genetic neurodevelopmental disorder resulting in an uneven lin-guisticocognitive profile. The results are discussed in terms of how the comparison of different phenotypes (e.g., Williams syndrome, Down syndrome, autism, and hydrocephaly with associated myelomeningocele) can contribute both to understanding the neuropsychology of social cognition and to current thinking about the purported modularity of the brain.

Williams syndrome: From genotype through to the cognitive phenotype

Williams syndrome, due to a contiguous gene deletion at 7q11.23, is associated with a distinctive facial appearance, cardiac abnormalities, infantile hypercalcemia, and growth and developmental retardation. The deletion is approximately 1.5Mb and includes approximately 17 genes. Large repeats containing genes and pseudogenes flank the deletion breakpoints, and the mutation mechanism commonly appears to be unequal meiotic recombination. Elastin hemizygosity is associated with supravalvular aortic stenosis and other vascular stenoses. LIM Kinase 1 hemizygosity may contribute to the characteristic cognitive profile. The relationship of the other deleted genes to phenotypic features is not known. People with Williams syndrome tend to be over friendly-though anxious-and lack social judgement skills. They exhibit an uneven cognitive-linguistic profile together with mild to severe mental retardation. Analysis of the cognitive phenotype based on analyses of the mental processes underlying overt behavior demonstrates major differences between normal and WS subjects although for some areas, such as face processing, WS subjects can achieve near normal scores. Cognitive analysis of patients with small deletions in 7q11.23 which include elastin and LIM Kinase 1 have revealed varying results and it is premature to draw genotype-phenotype correlations.

Nativism versus Neuroconstructivism: Rethinking the Study of Developmental Disorders.

This article argues that one dominant position in psychology, linguistics, neuroscience, and philosophy about how genetic disorders point to the innate specification of dissociated modules in the human brain should be replaced by a dynamic, neuroconstructivist approach in which genes, brain, cognition, and environment interact multidirectionally. The article challenges current thinking about a series of questions: (a) Do significantly better scores in one domain necessarily indicate an intact module? (b) What do scores in the normal range suggest? (c) What is wrong with mental-age matching? (d) Why is the notion of an intact module unlikely? (e) Do developmental disorders suggest associations rather than dissociations? (f) Is the environment the same for atypically developing individuals? The article concludes by examining the implications of taking a neuroconstructivist approach and by arguing that human intelligence is not a state (i.e., not a collection of static, built-in modules that can be intact or impaired) but a process (i.e., the emergent property over developmental time of dynamic, multidirectional interactions between genes, brain, cognition, behavior, and environment) with domain-specific outcomes impossible without the process of development.

Are developmental disorders like cases of adult brain damage? Implications from connectionist modelling

It is often assumed that similar domain-specific behavioural impairments found in cases of adult brain damage and developmental disorders correspond to similar underlying causes, and can serve as convergent evidence for the modular structure of the normal adult cognitive system. We argue that this correspondence is contingent on an unsupported assumption that atypical development can produce selective deficits while the rest of the system develops normally (Residual Normality), and that this assumption tends to bias data collection in the field. Based on a review of connectionist models of acquired and developmental disorders in the domains of reading and past tense, as well as on new simulations, we explore the computational viability of Residual Normality and the potential role of development in producing behavioural deficits. Simulations demonstrate that damage to a developmental model can produce very different effects depending on whether it occurs prior to or following the training process. Because developmental disorders typically involve damage prior to learning, we conclude that the developmental process is a key component of the explanation of endstate impairments in such disorders. Further simulations demonstrate that in simple connectionist learning systems, the assumption of Residual Normality is undermined by processes of compensation or alteration elsewhere in the system. We outline the precise computational conditions required for Residual Normality to hold in development, and suggest that in many cases it is an unlikely hypothesis. We conclude that in developmental disorders, inferences from behavioural deficits to underlying structure crucially depend on developmental conditions, and that the process of ontogenetic development cannot be ignored in constructing models of developmental disorders.

Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes

In Williams syndrome (WS), a deletion of approximately 1.5 Mb on one copy of chromosome 7 causes specific physical, cognitive, and behavioral abnormalities. Molecular dissection of the phenotype may be a route to identification of genes important in human cognition and behavior. Among the genes known to be deleted in WS are ELN (which encodes elastin), LIMK1 (which encodes a protein tyrosine kinase expressed in the developing brain), STX1A (which encodes a component of the synaptic apparatus), and FZD3. Study of patients with deletions or mutations confined to ELN showed that hemizygosity for elastin is responsible for the cardiological features of WS. LIMK1 and STX1A are good candidates for cognitive or behavioral aspects of WS. Here we describe genetic and psychometric testing of patients who have small deletions within the WS critical region. Our results suggest that neither LIMK1 hemizygosity (contrary to a previous report) nor STX1A hemizygosity is likely to contribute to any part of the WS phenotype, and they emphasize the importance of such patients for dissecting subtle but highly penetrant phenotypes.

Précis of Beyond modularity: A developmental perspective on cognitive science

Beyond modularity attempts a synthesis of Fodors anticonstructivist nativism and Piagets antinativist constructivism. Contra Fodor, I argue that: (1) the study of cognitive development is essential to cognitive science, (2) the module/central processing dichotomy is too rigid, and (3) the mind does not begin with prespecified modules; rather, development involves a gradual process of “modularization.” Contra Piaget, I argue that: (1) development rarely involves stagelike domain-general change and (2) domainspecific predispositions give development a small but significant kickstart by focusing the infants attention on proprietary inputs. Development does not stop at efficient learning. A fundamental aspect of human development (“representational redescription”) is the hypothesized process by which information that is in a cognitive system becomes progressively explicit knowledge to that system. Development thus involves two complementary processes of progressive modularization and progressive “explicitation.” Empirical findings on the child as linguist, physicist, mathematician, psychologist, and notator are discussed in support of the theoretical framework. Each chapter concentrates first on the initial state of the infant mind/brain and on subsequent domain-specific learning in infancy and early childhood. It then goes on to explore data on older childrens problem solving and theory building, with particular focus on evolving cognitive flexibility. Emphasis is placed throughout on the status of representations underlying different capacities and on the multiple levels at which knowledge is stored and accessible. Finally, consideration is given to the need for more formal developmental models, and a comparison is made between representational redescription and connectionist simulations of development. In conclusion, I consider what is special about human cognition by speculating on the status of representations underlying the structure of behavior in other species.

Atypical development of language and social communication in toddlers with Williams syndrome

Williams syndrome (WS) is a genetic disorder which results in an uneven cognitive profile. Despite superior language compared to other syndromes in the phenotypic outcome, toddlers with WS are as delayed in their language onset and early linguistic development as are toddlers with other syndromes. The cause of this delay in WS is as yet unknown. In a series of experiments, we examined whether atypical socio-interactive precursors to language could contribute to the explanation of the late language onset and atypical developmental pathways observed in WS. Experiment 1 showed that despite superficially good social skills, toddlers with WS were only proficient at dyadic interaction. They were impaired in triadic interaction, essential for the referential uses of language, and showed none of the correlations between socio-interactive markers and language seen in the typical controls. Experiment 2 focused on the comprehension and production of referential pointing. Again, the WS group was impaired, despite vocabulary levels higher than those of typically developing controls. Finally, Experiment 3 examined fine motor skills. The WS lack of pointing could not be explained in terms of motor impairments, since the WS toddlers were proficient at fine motor control, such as the pincer grip. Overall, our data indicate that the early stages of WS language follow an atypical pathway. The findings challenge the frequent claims in the literature that individuals with Williams syndrome have preserved linguistic and social skills.