Affect, Social Behavior, and the Brain in Williams Syndrome

ABSTRACT— Williams syndrome (WS) is a rare genetic disorder characterized by intellectual impairment and a distinctive physical and neuropsychological profile. Relative to their level of intellectual functioning, individuals with WS exhibit strengths in language and face recognition, with deficits in visual-spatial cognition. A heightened appetitive drive toward social interaction is a strong behavioral feature. Relative to other neurodevelopmental disorders, WS has a clearly defined genetic basis, together with a consistent neurocognitive profile of strengths and deficits. Thus, this disorder offers unique opportunities for elucidating gene–brain–behavior relationships. We focus on manifestations of the unusual social profile in WS, by examining data within and across levels of cognition, brain, and molecular genetics.     

Narrative analysis in developmental social and linguistic pathologies: dissociation between emotional and informational language use

This study examined the use of emotional and informational aspects of language in populations that demonstrate developmental social-emotional and linguistic pathologies. We tested high-functioning autistic (HFA) individuals because this group reveals deficiencies in social-emotional and informative aspects of language as well as abnormalities in sociability. We tested Williams syndrome (WS) individuals because of the claim that the social-emotional aspects of language use and sociability are differentially preserved in the context of mental retardation. We compared the performance of these two groups with two groups of control children (7- and 11-year-olds). All of the participants viewed a slide show depicting an event and were asked to retell the story. These narratives were coded for emotional and informational elements. The results showed that on measures of emotional elements, the WS group patterned with the control groups and only the HFA participants received lower scores, while on the informational elements, the two pathological groups did not differ, and both were lower than the controls. The results suggest that the preservation of language among WS individuals is specific for the emotional aspects of language.     

语言与数量认知关系的新认识

数量认知研究近年有长足发展。文章从新近提出的独立于语言的两个数量表征核心系统,语言与精确数量运算,语言与算术事实的储存,语言对儿童早期数概念发展的影响,语言与数量认知关系的最新脑科学证据,以及语言在数量认知模型中的角色等方面,介绍和评述了人类存在依赖和不依赖语言的两级数量能力的新认识。对于是否还存在其它不依赖语言的理解数量的系统,以及这些非语言数量表征系统的认知机制,文章认为有待进一步研究     

Form and function in early communication: language and pointing gestures

Pointing gestures of verbally advanced 2-year-olds were contrasted with those of less advanced peers, in order to examine the relationships of gesture to language during the acquisition of each. Hypotheses regarding the replacement of gestural functions by speech as verbal skills improve, regarding developmental correspondences between the two communicative domains, and regarding the independence of language acquisition from nonverbal developments were drawn from evolutionary, structuralist, and nativist viewpoints, respectively. Both formal and functional aspects of each communicative skill were measured, and were shown to be largely unrelated, particularly in the gestural domain. No evidence that language replaced gesture for communication in ontogeny was obtained. Correspondences between gesture and language occurred only between functional aspects of each, and the independence of developing language from gestural advances was suggested by the findings.     

Language development in Down syndrome: from the prelinguistic period to the acquisition of literacy

Down syndrome (DS) is associated with abnormalities in multiple organ systems and a characteristic phenotype that includes numerous behavioral features. Language, however, is among the most impaired domains of functioning in DS and, perhaps, also the greatest barrier to independent meaningful inclusion in the community. In this article, we review what is known about the extent, nature, and correlates of the language and related problems of individuals with Down syndrome. In doing so, we focus largely on the syndrome-specific features of the language phenotype, although we also consider within-syndrome variation. The review focuses on the prelinguistic foundations of language and the major components of language (i.e., vocabulary, syntax, and pragmatics). We also consider two topics in the treatment and education of individuals with DS: prelinguistic communication intervention and the acquisition of literacy skills.     

Before and after the vocabulary spurt: two modes of word acquisition?

This paper focuses on early lexical development, and especially the period around 18 months known as the vocabulary spurt. We first propose that this period corresponds to a shift from an associationist to a referential lexical acquisition mechanism following the developmental coupling of specific pre‐linguistic and cognitive abilities. This latter mechanism would allow the acquisition of genuine words, i.e. links between phonetically specified sound patterns and object categories. We then review the literature on early lexical acquisition by typically developing infants and infants with Down and Williams syndrome, and report some data that were recently collected on this issue. We conclude that the data so far are congruent with our proposal, but because they remain insufficient, we propose some future research that focuses on the relation between pre‐linguistic and cognitive developments.     

‘Ideal learning’ of natural language: Positive results about learning from positive evidence

Gold's [1967. Language identification in the limit. Information and Control, 16, 447-474] celebrated work on learning in the limit has been taken, by many cognitive scientists, to have powerful negative implications for the learnability of language from positive data (i.e., from mere exposure to linguistic input). This provides one, of several, lines of argument that language acquisition must draw on other sources of information, including innate constraints on learning. We consider an ‘ideal learner’ that applies a Simplicity Principle to the problem of language acquisition. The Simplicity Principle chooses the hypothesis that provides the briefest representation of the available data—here, the data are the linguistic input to the child. The Simplicity Principle allows learning from positive evidence alone, given quite weak assumptions, in apparent contrast to results on language learnability in the limit (e.g., Gold, 1967). These results provide a framework for reconsidering the learnability of various aspects of natural language from positive evidence, which has been at the center of theoretical debate in research on language acquisition and linguistics.     

Williams syndrome: cognition, personality, and adaptive behavior

Williams syndrome is caused by a microdeletion of at least 16 genes on chromosome 7q11.23. The syndrome results in mild to moderate mental retardation or learning disability. The behavioral phenotype for Williams syndrome is characterized by a distinctive cognitive profile and an unusual personality profile. Relative to overall level of intellectual ability, individuals with Williams syndrome typically show a clear strength in auditory rote memory, a strength in language, and an extreme weakness in visuospatial construction. The personality of individuals with Williams syndrome involves high sociability, overfriendliness, and empathy, with an undercurrent of anxiety related to social situations. The adaptive behavior profile for Williams syndrome involves clear strength in socialization skills (especially interpersonal skills related to initiating social interaction), strength in communication, and clear weakness in daily living skills and motor skills, relative to overall level of adaptive behavior functioning. Literature relevant to each of the components of the Williams syndrome behavioral phenotype is reviewed, including operationalizations of the Williams syndrome cognitive profile and the Williams syndrome personality profile. The sensitivity and specificity of these profiles for Williams syndrome, relative to individuals with other syndromes or mental retardation or borderline normal intelligence of unknown etiology, is considered. The adaptive behavior profile is discussed in relation to the cognitive and personality profiles. The importance of operationalizations of crucial components of the behavioral phenotype for the study of genotype/phenotype correlations in Williams syndrome is stressed. MRDD Research Reviews 2000;6:148-158.     

The Ontogenesis of Language Impairment in Autism: A Neuropsychological Perspective

Autistic Disorder (AD) is a phenotypically heterogeneous condition characterized by impairments in social interaction, communication, and the presence of repetitive behavior and restricted interests. It is a model syndrome to investigate neural interaction and integration at the nexus of language and social cognition. This paper considers the problems of language acquisition in AD from an evolutionary and ontogenetic context. Following a review of normal language development during the formative years of brain development, we examine what is known about infant linguistic and nonlinguistic precursors of language acquisition in AD and examine how anomalies of several processes relate to language abnormalities manifest by the early elementary school years. Population heterogeneity and practical limitations inherent to the study of children currently limit a comprehensive understanding of the significance of specific neurological abnormalities in relation to observed deficits. However, convergent evidence implicates anomalies of a widely distributed neural network, involving superior temporal sulcus, superior temporal gyrus, supramarginal gyrus, insula, inferior frontal gyrus, hippocampus, amygdala and cerebellum. These anomalies reflect the cumulative effects of genetic, epigenetic and environmental influences. Neuropsychological studies of language in AD provide an important means to define the phenotypic variation resulting from alterations in neural architecture. By mapping broad relationships between key symptoms, neuropsychological impairment and neural substrate, information derived from these studies enable a level of analysis that bridges the gap between the genome and the syndrome. Further study of children during the critical first 2 years of life using behavioral, electrophysiological, and functional neuroimaging methods is essential.     

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.     

Lexico-semantic processing in Williams syndrome

People with Williams syndrome, a neurodevelopmental genetic syndrome, typically have good language skills as compared to other cognitive abilities, as far as intellectual disability is concerned. They have a large vocabulary and they frequently use uncommon or rarely-used words. This has led some authors to consider that they have a peculiar semantic system, different from that of people with typical development. In this study, we tested this hypothesis by comparing the performance of a group of young adults with Williams syndrome to a control group using various lexico-semantic tasks, including semantic and phonological fluency. The results indicate that the semantic system of people with Williams syndrome does not seem to differ much from those in the control group because the words they produced were similar to those of the control group with regard to word frequency, length or the typicality of the responses within the categories.     

The effects of motor neurone disease on language: further evidence

It might sound surprising that Motor Neurone Disease (MND), regarded still by many as the very example of a neurodegenerative disease affecting selectively the motor system and sparing the sensory functions as well as cognition, can have a significant influence on language. In this article we hope to demonstrate that language dysfunction is not only a pronounced and well documented symptom in some MND patients but also that the study of language in MND can address interesting theoretical questions about the representation of language and conceptual knowledge in the brain. After a brief introduction delineating clinical and pathological features of the disease we discuss the evidence available in the literature for language dysfunction in MND. We then present linguistic data from our own study of seven patients with MND/dementia/aphasia syndrome focusing on the dissociation between noun and verb processing. To illustrate the clinical, neuropsychological and linguistic aspects of MND we describe in more detail the patient E.N., a pathologically confirmed case of MND/dementia. Finally, we attempt to characterise the nature of the linguistic impairment in MND in the light of current debates about the mechanisms underlying noun/verb dissociation.     

Multiple object tracking in people with Williams syndrome and in normally developing children

Multiple object tracking is hypothesized to utilize visual indexes, which may provide rapid, parallel access to a limited number of visual objects, thereby supporting a variety of spatial tasks. We examined whether faulty indexing might play a role in the severe visuospatial deficits found in Williams syndrome. We asked observers to track from one to four targets in a display of eight identical objects. Objects remained stationary (static condition) or moved randomly and independently (moving condition) for 6 s, after which observers pointed to the objects they thought were targets. People with Williams syndrome were impaired in the moving condition, but not the static condition, compared with mental-age-matched control participants. Normal children who were younger than the mental-age-matched control children did not show the same profile as individuals with Williams syndrome, which suggests that the difference between the tasks in Williams syndrome did not reflect simple developmental immaturity. Error analysis revealed that all groups had "slippery" indexes, falsely identifying target neighbors, and further suggested that people with Williams syndrome deploy fewer indexes than do people without this disorder.     

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.     

Williams syndrome: a genetic deletion disorder presenting clues to the biology of sociability and clinical challenges of hypersociability

Williams syndrome is a neurodevelopmental disorder that results from the deletion of approximately 25-30 genes spanning about 1.5 megabases in the q11.23 region of chromosome 7. Patients with this syndrome present with a combination of a distinctive elfin-like facial appearance; growth retardation; mild mental retardation; an inconsistent cognitive profile that includes visuospatial impairments with good facial discrimination and relatively preserved expressive language skills; and cardiovascular abnormalities. In addition, a striking behavioral feature of the syndrome is the high sociability and empathy that these patients show for others. The study of patients with "partial" deletions of the chromosome band 7q11.23, mutated genes in this region and knockout mice with deletions of specific genes in the homologous G1-G2 region of mouse chromosome 5 are clarifying some genotype/phenotype relationships. Furthermore, genes located in this region that are prominently expressed have been implicated in brain development and function. The neuropsychological profile of patients with Williams syndrome is heterogeneous, highlights important dissociations between cognitive functions and suggests that the behavioral dimensions of sociability, empathy, engageability, and talkativeness may be independent of, or not easily explained by, the cognitive deficits. Williams syndrome has enormous heuristic value because its pathological feature of heightened "sociability" can be a "deficit" symptom of major complex neuropsychiatric disorders, such as schizophrenia and autism. Data consistent with a core inability of patients with Williams syndrome to inhibit social approach suggest that this disorder may afford an opportunity to study the biological basis of the "drive" toward socialization. From a research perspective, the syndrome lends itself to neurobiological studies of sociability as a dimension that varies independently of cognition (or at least many separable cognitive processes). Importantly, from a clinical perspective, the syndrome challenges us to administer strategic psychosocial interventions that take advantage of the opportunities that "pathological" sociability provide, while avoiding its threats. An illustrative example of an effective strategically planned psychosocial intervention for a patient with Williams syndrome is briefly presented.     

Visible embodiment: Gestures as simulated action

Spontaneous gestures that accompany speech are related to both verbal and spatial processes. We argue that gestures emerge from perceptual and motor simulations that underlie embodied language and mental imagery. We first review current thinking about embodied cognition, embodied language, and embodied mental imagery. We then provide evidence that gestures stem from spatial representations and mental images. We then propose the gestures-as-simulated-action framework to explain how gestures might arise from an embodied cognitive system. Finally, we compare this framework with other current models of gesture production, and we briefly outline predictions that derive from the framework.     

"Frog, where are you?" Narratives in children with specific language impairment, early focal brain injury, and Williams syndrome

In this cross-population study, we use narratives as a context to investigate language development in children from 4 to 12 years of age from three experimental groups: children with early unilateral focal brain damage (FL; N=52); children with specific language impairment (SLI; N=44); children with Williams syndrome (WMS; N=36), and typically developing controls. We compare the developmental trajectories of these groups in the following domains: morphological errors, use of complex syntax, complexity of narrative structure, and types and frequency of evaluative devices. For the children with early unilateral brain damage, there is initial delay. However, by age 10, they are generally within the normal range of performance for all narrative measures. Interestingly, there are few, if any, side specific differences. Children with SLI, who have no frank neurological damage and show no cognitive impairment demonstrate significantly more delay on all morphosyntactic measures than the FL group. Quantitatively, on morphosyntactic measures, the SLI group clusters with those children with WMS who are moderately retarded. Together these data help us to understand the extent and nature of brain plasticity for language development and those aspects of language and discourse that are dissociable.     

Abnormalities in early visual processes are linked to hypersociability and atypical evaluation of facial trustworthiness: An ERP study with Williams syndrome

Accurate assessment of trustworthiness is fundamental to successful and adaptive social behavior. Initially, people assess trustworthiness from facial appearance alone. These assessments then inform critical approach or avoid decisions. Individuals with Williams syndrome (WS) exhibit a heightened social drive, especially toward strangers. This study investigated the temporal dynamics of facial trustworthiness evaluation in neurotypic adults (TD) and individuals with WS. We examined whether differences in neural activity during trustworthiness evaluation may explain increased approach motivation in WS compared to TD individuals. Event-related potentials were recorded while participants appraised faces previously rated as trustworthy or untrustworthy. TD participants showed increased sensitivity to untrustworthy faces within the first 65–90 ms, indexed by the negative-going rise of the P1 onset (oP1). The amplitude of the oP1 difference to untrustworthy minus trustworthy faces was correlated with lower approachability scores. In contrast, participants with WS showed increased N170 amplitudes to trustworthy faces. The N170 difference to low–high-trust faces was correlated with low approachability in TD and high approachability in WS. The findings suggest that hypersociability associated with WS may arise from abnormalities in the timing and organization of early visual brain activity during trustworthiness evaluation. More generally, the study provides support for the hypothesis that impairments in low-level perceptual processes can have a cascading effect on social cognition.     

How normal is grammatical development in the right hemisphere following hemispherectomy? The root infinitive stage and beyond

We examined the morphosyntax of eight left hemispherectomized children at two different stages and compared it to MLU-matched normals. We found that the language of the hemispherectomies paralleled that of their MLU matches with respect to the specific morphosyntactic characteristics of each stage. Our findings provide strong evidence for the presence of functional categories in all early grammars and demonstrate that grammatical development, regardless of its neural substrate, is highly constrained by UG and follows a narrowly determined course. We discuss our findings within a neurobiological framework in which etiology defines the integrity of the remaining hemisphere, which in turn, determines its potential for linguistic reorganization and/or acquisition.     

Global Spatial Organization by Individuals with Williams Syndrome

Williams syndrome is a genetically determined disorder with a characteristic cognitive profile. Overall IQ tends to be lower than in the normally developing population, performance on measures of linguistic ability is somewhat higher than would be expected given the levels of IQ typical for this group, and there is a particular weakness in visuospatial construction (e.g., block design tasks). A well-known hypothesis about the deficit in visuospatial construction is that people with Williams syndrome are strongly inclined to be local spatial processors. We report a test of this hypothesis that used a visual search task sensitive to spontaneous global spatial organization. A sample of adults with Williams syndrome produced a pattern of data demonstrating that they spontaneously organize spatial displays at a global level. Indeed, individuals with Williams syndrome found it more difficult to change from global to local processing than participants with normal intelligence. We suggest that the primary problem with visuospatial construction in people with Williams syndrome is not in the salience of single levels of organization but rather in the difficulty of changing between organizations.