Papers by Annette Karmiloff-Smith
Cognition, 1996
Developmentalists have argued that young children have a confused notion of the metalinguistic co... more Developmentalists have argued that young children have a confused notion of the metalinguistic concept word and that they cannot focus on single word boundaries when words occur in normal syntactic/semantic frames. We challenge these assumptions and present a new technique which engages normal syntactic-semantic processing but which, once it is interrupted on-line, introduces a metalinguistic component. In three experiments, children listened to a story in which the narrator paused on open or closed class words and then asked children to repeat "the last word" or "the last thing" that she had said each time she stopped. The results show that children as young as 4!-5 years treat both open and closed categories as words and clearly differentiate word and thing. We conclude by suggesting that the new technique may be useful for enhancing early reading readiness and for reassessing the relationship between literacy and metalinguistic awareness.
F1000Research, 2016
In this article, we first present a summary of the general assumptions about Down syndrome (DS) s... more In this article, we first present a summary of the general assumptions about Down syndrome (DS) still to be found in the literature. We go on to show how new research has modified these assumptions, pointing to a wide range of individual differences at every level of description. We argue that, in the context of significant increases in DS life expectancy, a focus on individual differences in trisomy 21 at all levels-genetic, cellular, neural, cognitive, behavioral, and environmental-constitutes one of the best approaches for understanding genotype/phenotype relations in DS and for exploring risk and protective factors for Alzheimer's disease in this high-risk population.
PloS one, 2015
Typically developing (TD) infants enhance their learning of spoken language by observing speakers... more Typically developing (TD) infants enhance their learning of spoken language by observing speakers' mouth movements. Given the fact that word learning is seriously delayed in most children with neurodevelopmental disorders, we hypothesized that this delay partly results from differences in visual face scanning, e.g., focusing attention away from the mouth. To test this hypothesis, we used an eye tracker to measure visual attention in 95 infants and toddlers with Down syndrome (DS), fragile X syndrome (FXS), and Williams syndrome (WS), and compared their data to 25 chronological- and mental-age matched 16-month-old TD controls. We presented participants with two talking faces (one on each side of the screen) and a sound (/ga/). One face (the congruent face) mouthed the syllable that the participants could hear (i.e., /ga/), while the other face (the incongruent face) mouthed a different syllable (/ba/) from the one they could hear. As expected, we found that TD children with a rel...
Frontiers in Psychology, 2015
Face processing is a crucial socio-cognitive ability. Is it acquired progressively or does it con... more Face processing is a crucial socio-cognitive ability. Is it acquired progressively or does it constitute an innately-specified, face-processing module? The latter would be supported if some individuals with seriously impaired intelligence nonetheless showed intact faceprocessing abilities. Some theorists claim that Williams syndrome (WS) provides such evidence since, despite IQs in the 50s, adolescents/adults with WS score in the normal range on standardized face-processing tests. Others argue that atypical neural and cognitive processes underlie WS face-processing proficiencies. But what about infants with WS? Do they start with typical face-processing abilities, with atypicality developing later, or are atypicalities already evident in infancy? We used an infant familiarization/novelty design and compared infants with WS to typically developing controls as well as to a group of infants with Down syndrome matched on both mental and chronological age. Participants were familiarized with a schematic face, after which they saw a novel face in which either the features (eye shape) were changed or just the configuration of the original features. Configural changes were processed successfully by controls, but not by infants with WS who were only sensitive to featural changes and who showed syndrome-specific profiles different from infants with the other neurodevelopmental disorder. Our findings indicate that theorists can no longer use the case of WS to support claims that evolution has endowed the human brain with an independent face-processing module.
We report a cross-syndrome comparison of the development of holistic processing in face recogniti... more We report a cross-syndrome comparison of the development of holistic processing in face recognition for children between the ages of 5 and 13 with three different developmental disorders: autism, Down syndrome, and Williams syndrome. The autism group was split into high-functioning and low-functioning children. The latter group has rarely been studied. The four disorder groups were compared to typically developing children. Cross-sectional trajectories analyses were used to compare development in a modified version of the partwhole task . Trajectories were constructed linking part-whole performance either to chronological age or measures of mental age (receptive vocabulary, visuospatial construction, and the Benton face recognition task). As well as variable delays in onset and rate of development, we found an atypical profile in all four disorder groups. These profiles were atypical in different ways, indicating multiple pathways to, and variable outcomes in, the development of face recognition.
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Developmental Science, 2015
Both Williams syndrome (WS) and Autism Spectrum Disorder (ASD) have been characterized as prefere... more Both Williams syndrome (WS) and Autism Spectrum Disorder (ASD) have been characterized as preferentially processing local information, whereas in Down syndrome (DS) the reported tendency is to process stimuli globally. We designed a cross-syndrome, cross-task comparison to reveal similarities and differences in local/global processing in these disorders. Our in-depth study compared local/global processing across modalities (auditory-verbal/visuo-spatial) and levels of processing (high/low) in the three syndromes. Despite claims in the literature, participants with ASD or WS failed to show a consistent local processing bias, while those with DS failed to show a reliable global processing bias. Depending on the nature of the stimuli and the task, both local and global processing biases were evident in all three neurodevelopmental disorders. These findings indicate that individuals with neurodevelopmental disorders cannot simply be characterized as local or global processors.
Trends in cognitive sciences, 2002
Despite the fact that number deficits are as prevalent as literacy deficits, research on basic nu... more 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.
Science (New York, N.Y.), Jan 18, 2005
Craniofacial abnormalities account for about one-third of all human congenital defects, but our u... more Craniofacial abnormalities account for about one-third of all human congenital defects, but our understanding of the genetic mechanisms governing craniofacial development is incomplete. We show that GTF2IRD1 is a genetic determinant of mammalian craniofacial and cognitive development, and we implicate another member of the TFII-I transcription factor family, GTF2I, in both aspects. Gtf2ird1-null mice exhibit phenotypic abnormalities reminiscent of the human microdeletion disorder Williams-Beuren syndrome (WBS); craniofacial imaging reveals abnormalities in both skull and jaws that may arise through misregulation of goosecoid, a downstream target of Gtf2ird1. In humans, a rare WBS individual with an atypical deletion, including GTF2IRD1, shows facial dysmorphism and cognitive deficits that differ from those of classic WBS cases. We propose a mechanism of cumulative dosage effects of duplicated and diverged genes applicable to other human chromosomal disorders.
Behavioral Sleep Medicine, 2014
In typically developing (TD) children, sleep problems have been associated with day-time attentio... more In typically developing (TD) children, sleep problems have been associated with day-time attentional difficulties. Children with developmental disabilities often suffer with sleep and attention problems, yet their relationship is poorly understood. The present study investigated this association in school-aged children with Down syndrome (DS) and Williams syndrome (WS). Actigraphy and pulse oximetry assessed sleep and sleep-disordered breathing respectively, and attention was tested 20 using a novel visual Continuous Performance Task (CPT).Attentional deficits were evident in both disorder groups. In the TD group, higher scores on the CPT were related to better sleep quality, higher oxyhemoglobin saturation (SpO 2 ), and fewer desaturation events. Sleep quality, duration, and SpO 2 variables were not related to CPT performance for children with DS and WS.
Neuropsychologia, 2006
The LIM kinase1 protein (LIMK1) is thought to be involved in neuronal development and brain funct... more The LIM kinase1 protein (LIMK1) is thought to be involved in neuronal development and brain function. However, its role in spatial cognition in individuals with Williams syndrome (WS) is currently ambiguous, with conflicting reports on the cognitive phenotypes of individuals who do not have classic WS but harbour partial deletions including LIMK1. Two families with partial WS deletions have been described with deficits in visuospatial cognition (Frangiskakis, J. M., Ewart, A. K., Morris, C. A., Mervis, C. B., Bertrand, & J., Robinson, et al. (1996). LIM-kinase 1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell, 86, 59-69), in contrast to others with similar partial deletions who did not display spatial impairments (Tassabehji, M., Metcalfe, K., Karmiloff-Smith, A., Carette, M. J., Grant, J., & Dennis, N., et al. (1999). Williams syndrome: Use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. American Journal of Human Genetics, 64, 118-125). To determine the role of LIMK1 in the highly penetrant visuospatial deficits associated with classic WS, it is essential to investigate the discrepancies between the two studies. Previous research used a standardised task to measure spatial cognition, which may not pick up subtle impairments. We therefore undertook more extensive testing of the spatial cognition of two adults with partial genetic deletions in the WS critical region (LIMK1 and ELN only), who had not displayed spatial impairments in the previous study, and compared them to two high-functioning adults with WS matched on verbal ability. All participants completed a broad battery of 16 perceptual and constructive spatial tests, and the clear-cut spatial difficulties observed in the WS group were not found in the partial deletion group. These findings rule out the claim that the deletion of one copy of LIMK1 is alone sufficient to result in spatial impairment, but leave open the possibility that LIMK1 contributes to the WS cognitive deficits if deleted in combination with other genes within the WS deletion. We conclude that a deeper assessment of WS at the genetic level is required before the contribution of specific genes to phenotypic outcomes can be fully understood.
Bilingualism: Language and Cognition, 2014
Studies measuring inhibitory control in the visual modality have shown a bilingual advantage in b... more Studies measuring inhibitory control in the visual modality have shown a bilingual advantage in both children and adults. However, there is a lack of developmental research on inhibitory control in the auditory modality. This study compared the comprehension of active and passive English sentences in 7-10 years old bilingual and monolingual children. The task was to identify the agent of a sentence in the presence of verbal interference. The target sentence was cued by the gender of the speaker. Children were instructed to focus on the sentence in the target voice and ignore the distractor sentence. Results indicate that bilinguals are more accurate than monolinguals in comprehending syntactically complex sentences in the presence of linguistic noise. This supports previous findings with adult participants (Filippi, Leech, Thomas, Green & Dick, 2012). We therefore conclude that the bilingual advantage in interference control begins early in life and is maintained throughout development.
Genetic mutations and environmental factors dynamically influence gene expression and development... more Genetic mutations and environmental factors dynamically influence gene expression and developmental trajectories at the neural, cognitive, and behavioral levels. The examples in this article cover different periods of neurocognitive development-early childhood, adolescence, and adulthood-and focus on studies in which researchers have used a variety of methodologies to illustrate the early effects of socioeconomic status and stress on brain function, as well as how allelic differences explain why some individuals respond to intervention and others do not. These studies highlight how similar behaviors can be driven by different underlying neural processes and show how a neurocomputational model of early development can account for neurodevelopmental syndromes, such as autism spectrum disorders, with novel implications for intervention. Finally, these studies illustrate the importance of the timing of environmental and genetic factors on development, consistent with our view that phenotypes are emergent, not predetermined.
Behavioral Sciences, 2013
The infancy literature situates the perceptual narrowing of speech sounds at around 10 months of ... more The infancy literature situates the perceptual narrowing of speech sounds at around 10 months of age, but little is known about the mechanisms that influence individual differences in this developmental milestone. We hypothesized that such differences might in part be explained by characteristics of mother-child interaction. Infant sensitivity to syllables from their native tongue was compared longitudinally to sensitivity to non-native phonemes, at 6 months and again at 10 months. We replicated previous findings that at the group level, both 6-and 10-month-olds were able to discriminate contrasts in their native language, but only 6-month-olds succeeded in discriminating contrasts in the non-native language. However, when discrimination was assessed for separate groups on the basis of mother-child interaction-a 'high contingency group' and a
Neuropsychologia, 1998
Williams syndrome (WS) is a neurodevelopmental disorder of genetic origin which results in relati... more Williams syndrome (WS) is a neurodevelopmental disorder of genetic origin which results in relatively spared language in the face of serious non-verbal deficits. There is controversy, however, about how intact WS language abilities are. The discussion has focused on impairments of lexico-semantics and of morphological feature analysis, with the presumption that WS syntax is intact. We challenged this view and assessed WS receptive syntax by using two tasks testing various syntactic structures: an on-line word monitoring task and an off-line picture-pointing task. WS performance on the off-line task was generally poor. By contrast, their performance on the on-line task was far better and allowed us to ascertain precisely which aspects of WS receptive syntax are preserved and which are impaired. WS participants were sensitive to the violation of auxiliary markers and phrase structure rules but, unlike both the normal young and elderly controls, they did not show sensitivity to violations of subcategory constraints. The present study suggests that there exist dissociations within WS language which are not restricted to lexico-semantics or to morphological feature analysis, but which also invade their processing of certain syntactic structures. We conclude by arguing that WS syntax is not intact and that their language might turn out to be more like second language learning than normal acquisition. ~
NeuroReport, 2003
Williams syndrome is a genetic disorder in which visuo-spatial performance is poor. Theorists hav... more Williams syndrome is a genetic disorder in which visuo-spatial performance is poor. Theorists have claimed that the deficit lies in high-level processing, leaving low-level visual processes intact. We investigated this claim by examining an aspect of low-level processing, perceptual completion, i.e. the ability of this clinical group to perceive illusory Kanizsa squares. We then used event-related potentials to examine neural correlates of perceptual completion. While participants were able to perceive illusory contours, the neural correlates of this apparently normal perception were different from controls. Such differences in low-level visual processes may significantly impact on the development of higher-level visual processes. We conclude that, contrary to earlier claims, there is atypical neural processing during low-level visual perception in Williams syndrome.
Journal of Neurodevelopmental Disorders, 2014
Background: Williams syndrome (WS) is a rare neurodevelopmental disorder arising from a hemizygot... more Background: Williams syndrome (WS) is a rare neurodevelopmental disorder arising from a hemizygotic deletion of approximately 27 genes on chromosome 7, at locus 7q11.23. WS is characterised by an uneven cognitive profile, with serious deficits in visuospatial tasks in comparison to relatively proficient performance in some other cognitive domains such as language and face processing. Individuals with partial genetic deletions within the WS critical region (WSCR) have provided insights into the contribution of specific genes to this complex phenotype. However, the combinatorial effects of different genes remain elusive. Methods: We report on visuospatial cognition in two individuals with contrasting partial deletions in the WSCR: one female (HR), aged 11 years 9 months, with haploinsufficiency for 24 of the WS genes (up to GTF2IRD1), and one male (JB), aged 14 years 2 months, with the three most telomeric genes within the WSCR deleted, or partially deleted.
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Papers by Annette Karmiloff-Smith