Biomedical subjects

Annette Karmiloff-Smith

Publications and source records attributed to Annette Karmiloff-Smith.

28 records · Page 2Linked to original sources

PubMed2003

Modeling language acquisition in atypical phenotypes.

An increasing number of connectionist models have been proposed to explain behavioral deficits in developmental disorders. These simulations motivate serious consideration of the theoretical implications of the claim that a developmental disorder fits within the parameter space of a particular computational model of normal development. The authors examine these issues in depth with respect to a series of new simulations investigating past-tense formation in Williams syndrome. This syndrome and the past-tense domain are highly relevant because both have been used to make strong theoretical claims about the processes underlying normal language acquisition. The authors conclude that computational models have great potential to advance psychologists' understanding of developmental deficits because they focus on the developmental process itself as a pivotal causal factor in producing atypical phenotypic outcomes.

Humans↗

PubMed2003

Dethroning the myth: cognitive dissociations and innate modularity in Williams syndrome.

Despite increasing empirical data to the contrary, it continues to be claimed that mor-phosyntax and face processing skills of people with Williams syndrome are intact. This purported intactness, which coexists with mental retardation, is used to bolster claims about innately specified, independently functioning modules, as if the atypically developing brain were simply a normal brain with parts intact and parts impaired. Yet this is highly unlikely, given the dynamics of brain development and the fact that in a genetic microdeletion syndrome the brain is developing differently from the moment of conception, throughout embryogenesis, and during postnatal brain growth. In this article, we challenge the intactness assumptions, using evidence from a wide variety of studies of toddlers, children, and adults with Williams syndrome.

Brain↗

PubMed2003

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

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.

Cognition Disorders↗

PubMed2002

Atypical trajectories of number development: a neuroconstructivist perspective.

Despite the fact that number deficits are as prevalent as literacy deficits, research on basic numerical skills lags seriously behind the successful studies identifying low-level deficits in dyslexia. We review current debates on number, discussing how the competing theories pertain to mathematical disabilities in normal children and numeracy deficits in genetic disorders. We stress the need to consider these issues within the framework of a developing system rather than from the neuropsychological perspective of focal damage. The earlier the exploration of atypical trajectories in very basic numerical skills, the better we will be able to chart their developmental impact on subsequent, higher-level arithmetic abilities.

Journal Article↗

PubMed2002

Early categorization abilities in young children with Williams syndrome.

The present study investigated whether 2- to 6-year-old children with Williams syndrome can form new object categories based on either visual or verbal information alone. Children were presented with six triads of objects. In each triad, two objects either shared visual properties, or were given the same name. Following the presentation of each triad, categorization based on the shared visual or verbal property was evaluated through object manipulation. While the children categorized the objects according to visual cues, they failed to use the verbal cues. These results contrast with previous research showing that typically developing toddlers, who were much younger than the children with Williams syndrome and much less advanced in their vocabulary development, could perform both types of categorization. The present study hence supports the claim that vocabulary acquisition in Williams syndrome develops atypically.

Acoustic Stimulation↗

PubMed2002

Different approaches to relating genotype to phenotype in developmental disorders.

In this article, we discuss the complex problem of relating genotype to phenotype and challenge the simple mapping of genes to higher level cognitive modules. We examine various methods that have been used to investigate this relation including quantitative genetics, molecular genetics, animal models, and in-depth psychological and computational studies of developmental disorders. Both single gene and multiple gene disorders indicate that the relationship between genotype and phenotype is very indirect and that, rather than identifying mere snapshots of developmental outcomes, the process of ontogenetic development itself must be taken into account.

Animals↗

PubMed2002

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.

Adolescent↗

PubMed2002

A study of relative clauses in Williams syndrome.

Despite growing empirical evidence to the contrary, claims continue to be made that the grammar of people with Williams syndrome (WS) is intact. We show that even in a simple elicited imitation task examining the syntax of relative clauses, older children and adults with WS (n = 14, mean age = 17;0 years) only reach the level of typical five-year-old controls. When tested systematically in a number of different laboratories, all aspects of WS language show delay and/or deviance throughout development. We conclude that the grammatical abilities of people with WS should be described in terms of relative rather than absolute proficiency, and that the syndrome should no longer be used to bolster claims about the existence of independently functioning, innately specified modules in the human brain.

Adolescent↗

PubMed2002

Neuroimaging of typical and atypical development: a perspective from multiple levels of analysis.

To date, research involving functional neuroimaging of typical and atypical development has depended on several assumptions about the postnatal maturation of the brain. We consider evidence from multiple levels of analysis that brings into question these underlying assumptions and advance an alternative view. This alternative view, based on an "interactive specialization" approach to postnatal brain development, indicates that there is a need to: obtain data from early in development; focus more on differences in interregional interactions rather than searching for localized, discrete lesions; examine the temporal dynamics of neural processing; and move away from deficits to image tasks in which atypical participants perform as well as typically developing participants.

Brain↗

PubMedDate not supplied

Brain bioenergetics and cognitive ability.

We obtained (31)P magnetic resonance spectra from the brains in vivo of 101 males (range 6-72 years). In addition, cognitive test data were obtained from 42 boys (6-13 years) and from 26 adult males (22-56 years) of this test group. Significant correlations were observed in both adults and children between various inorganic phosphate (Pi)-containing (31)P peak ratios [e.g. Pi/adenosine triphosphate (ATP)] and (predominantly verbal) cognitive tasks. No change in the Pi/ATP ratio was observed across the age range studied. Brain pH was shown to decrease significantly with age in a relationship best described by a decaying exponential. This indicated that brain pH does not stabilize at adult values until at least the late teens. We explored the possibility of a relationship between brain pH and neuronal density. In particular, we noted that our previous observation of a relationship between pH and IQ in children was not readily detected in the adult populations, whereas phosphorus metabolite ratios (in particular, those containing Pi) were found to correlate with (predominantly verbal) cognitive task performance in both adults and children. We assessed how these observations may be interpreted in the context of a metabolic vs. histological debate.

Adolescent↗