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In this paper we argue that there are two distinct components of a theory of mind: a social-cognitive and a social-perceptual component. Evidence for this proposal is presented from various sources, including studies of children with Williams syndrome, a rare genetic neurodevelopmental disorder. Earlier work has demonstrated that people with Williams syndrome appear to be spared in the social-perceptual component of a theory of mind. In this paper we present evidence that they are not spared in the social-cognitive component of theory of mind. Three experiments with young children with Williams syndrome were conducted. In each experiment the children with Williams syndrome were compared to age-, IQ-, and language-matched children with Prader-Willi syndrome, and children with non-specific mental retardation. The experiments used different measures of theory of mind ability, including false belief (Experiment 1), explanation of action (Experiment 2), and recognition of emotional expressions (Experiment 3). In none of these experiments did the children with Williams syndrome evidence superior performance compared to the control groups. The results from this and other studies on Williams syndrome support the view that the social-cognitive and social-perceptual components of a theory of mind are dissociable. In Williams syndrome only the latter components, which are linked to distinct neurobiological substrates, are spared.
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PMID:A componential view of theory of mind: evidence from Williams syndrome. 1082 43

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.
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PMID:Williams syndrome: cognition, personality, and adaptive behavior. 1089 9

The rare, genetically based disorder, Williams syndrome (WMS), produces a constellation of distinctive cognitive, neuroanatomical, and electrophysiological features which we explore through the series of studies reported here. In this paper, we focus primarily on the cognitive characteristics of WMS and begin to forge links among these characteristics, the brain, and the genetic basis of the disorder. The distinctive cognitive profile of individuals with WMS includes relative strengths in language and facial processing and profound impairment in spatial cognition. The cognitive profile of abilities, including what is 'typical' for individuals with WMS is discussed, but we also highlight areas of variability across the group of individuals with WMS that we have studied. Although the overall cognitive abilities (IQs) of individuals with WMS are typically in the mild-to-moderate range of mental retardation, the peaks and valleys within different cognitive domains make this syndrome especially intriguing to study across levels. Understanding the brain basis (and ultimately the genetic basis) for higher cognitive functioning is the goal we have begun to undertake with this line of interdisciplinary research.
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PMID:I. The neurocognitive profile of Williams Syndrome: a complex pattern of strengths and weaknesses. 1095 31

Williams syndrome (WMS) is a most compelling model of human cognition, of human genome organization, and of evolution. Due to a deletion in chromosome band 7q11.23, subjects have cardiovascular, connective tissue, and neurodevelopmental deficits. Given the striking peaks and valleys in neurocognition including deficits in visual-spatial and global processing, preserved language and face processing, hypersociability, and heightened affect, the goal of this work has been to identify the genes that are responsible, the cause of the deletion, and its origin in primate evolution. To do this, we have generated an integrated physical, genetic, and transcriptional map of the WMS and flanking regions using multicolor metaphase and interphase fluorescence in situ hybridization (FISH) of bacterial artificial chromosomes (BACs) and P1 artificial chromosomes (PACs), BAC end sequencing, PCR gene marker and microsatellite, large-scale sequencing, cDNA library, and database analyses. The results indicate the genomic organization of the WMS region as two nested duplicated regions flanking a largely single-copy region. There are at least two common deletion breakpoints, one in the centromeric and at least two in the telomeric repeated regions. Clones anchoring the unique to the repeated regions are defined along with three new pseudogene families. Primate studies indicate an evolutionary hot spot for chromosomal inversion in the WMS region. A cognitive phenotypic map of WMS is presented, which combines previous data with five further WMS subjects and three atypical WMS subjects with deletions; two larger (deleted for D7S489L) and one smaller, deleted for genes telomeric to FZD9, through LIMK1, but not WSCR1 or telomeric. The results establish regions and consequent gene candidates for WMS features including mental retardation, hypersociability, and facial features. The approach provides the basis for defining pathways linking genetic underpinnings with the neuroanatomical, functional, and behavioral consequences that result in human cognition.
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PMID:VI. Genome structure and cognitive map of Williams syndrome. 1095 36

A follow-up study of behavior and emotional problems in a cohort of young people with Williams syndrome 5 years after first assessment is described. Using a between-/within-subjects factorial layout, we compared scores on the Developmental Behaviour Checklist between young people with Williams syndrome and a large epidemiological control sample of young people with mental retardation due to other causes from Time 1 (1990/1991) to Time 2 (1995/1996). Results showed substantial persistence of the overall level of behavior and emotional problems. However, there were changes in certain types of behavior. Participants with Williams syndrome had significantly higher overall behavioral and emotional problems, communication disturbance, and anxiety over the 5-year period. Further, 10 or 13 checklist items maintained significantly higher levels among the Williams syndrome sample.
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PMID:Longitudinal course of behavioral and emotional problems in Williams syndrome. 1124 15

Williams syndrome (WS) is a developmental disorder characterized by distinct facial features, congenital heart disease, mental retardation and a gregarious personality. The majority of people with this disorder have a submicroscopic deletion of genes in chromosome band 7q11.23. This deletion can be detected using fluorescence in situ hybridization (FISH). Although the condition is usually sporadic a few familial cases with autosomal dominant inheritance have been described. A clinical scoring system has been developed by Selicorni with which a diagnosis of 'Williams syndrome' can be made; in all patients in whom the diagnosis was made in this way FISH results were positive.
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PMID:[Williams syndrome: new insights into genetic etiology, pathogenesis and clinical aspects]. 1125 93

Children with Williams syndrome (WS) have been reported to exhibit an unusual cognitive profile characterized by marked preservation of linguistic abilities and poor visuospatial abilities against a backdrop of generalized mental retardation. Much of the data documenting this profile come from studies of older children and adults with WS. Very few studies have reported findings from the preschool and early school-age period. As a result, little is known about the early development of cognitive processes in children with WS. Capirci, Sabbadini, and Volterra (1996) reported data from a longitudinal case study of early language development in a young child with WS. This article presents the longitudinal profile of visuospatial abilities in this same child. Data on copying and free drawing collected over a period extending from late preschool to early school age are reported. It is clear from these data that this child does indeed exhibit deficits in visuospatial abilities. Her performance clearly improved with age, but deficits persist.
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PMID:Drawing abilities in Williams syndrome: a case study. 1128 Sep 65

Over recent years interest in the study of behavior phenotypes has gained increasing momentum. We present three white female patients, age respectively 9 years 9 months, 14 years 6 months and 18 years at the time of the last observation, seen because of developmental delay/mental retardation, seizures and learning disabilities. Cytogenetic analysis showed a de novo deletion of the short arm of chromosome 9 in all three, with the breakpoint being located at band 9p22. Although several studies have described the somatic phenotype, analytical evaluation of verbal and non-verbal cognitive functions are lacking. Our patients received a detailed neuropsychological and linguistic evaluation that showed a particular behavior profile, in the context of mental retardation of variable degree. On selective tests there was a marked deficit in visuo-praxic and visuo-spatial skills associated with memory disturbance. Visuo-motor integration abilities [VMI; Beery, 1997] and visuo-perceptual and visuo-spatial abilities [Benton line orientation test, 1992] seemed particularly impaired, both in relation to verbal mental age (vocabulary and grammatical production/comprehension) and to some non-verbal competencies [Benton face recognition test, 1992]. The profile shows advanced performances in face recognition. In addition, there is also a dissociation between verbal and visuo-spatial short term memory. This behavior phenotype is similar to that of Williams syndrome (WS) individuals. Our patients also showed some unusual within-domain dissociations regarding linguistic abilities. To better demonstrate similarities and differences between the behavior phenotypes of the del (9p22) syndrome and WS, we studied three IQ-gender-matched WS subjects. The comparison between the cognitive phenotypes of the two syndromes shows similarities in neuropsychological pattern. We hypothesize that there is a gene within the 9p22 region responsible for the neuropsychological profile described here.
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PMID:del (9p) syndrome: proposed behavior phenotype. 1129 75

Three clinical conditions displaying phenotypic overlap have been linked to mutation or deletion of the elastin gene at 7q11.23. Supravalvar aortic stenosis, an autosomal dominant disorder characterized by elastin arteriopathy, is caused by mutation or intragenic deletions of ELN resulting in loss of function. Autosomal dominant cutis laxa, a primarily cutaneous condition, is the result of frameshift mutations at ELN that cause a dominant-negative effect on elastic fiber structure. Williams syndrome, a neurodevelopmental disorder is due to a 1.5 Mb deletion that includes ELN and at least 15 contiguous genes. The disorder is characterized by dysmorphic facies, mental retardation or learning difficulties, elastin arteriopathy, a unique cognitive profile of relative strength in auditory rote memory and language and extreme weakness in visuospatial constructive cognition, and a typical personality that includes overfriendliness, anxiety, and attention problems. The understanding of these disorders has progressed from phenotypic description to identification of causative mutations and insight into pathogenetic mechanisms for some aspects of the phenotype.
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PMID:Williams syndrome and related disorders. 1170 37

A characteristic facial appearance, mental retardation, growth deficiency, cardiovascular anomalies, and infantile hypercalcemia are major features of the Williams-Beuren syndrome. The dentist can contribute to the (early) diagnosis of this disorder.
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PMID:[Syndromes 5. Williams-Beuren Syndrome]. 1192 52


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