INTRODUÇÃO: A síndrome de Williams-Beuren (SWB) resulta de uma deleção de aproximadamente 1.5 Mb na região 7q11.23. A haploinsuficiência ocasiona alterações do desenvolvimento neurológico assim como malformações em múltiplos sistemas. OBJETIVOS: Testar utilidade de marcadores polimórficos para o diagnóstico da síndrome, determinar a proporção de pacientes com microdeleção, comparar características clínicas entre pacientes com e sem microdeleção e investigar origem parental. MÉTODOS: Selecionamos 32 pacientes com avaliação clínica para SWB atendidas no ICr. Critérios de inclusão: presença de dismorfismo craniofacial acompanhado ou não de alterações cardiovasculares, comportamento característico ou hiperacusia. Para a genotipagem do trio - afetado, mãe e pai, utilizamos os marcadores D7S1870, Eln 17/éxon18 e Hei. Análise em gel de poliacrilamida à 7% com imagens digitalizadas. RESULTADOS: Os marcadores D7S1870, Hei e Eln17/éxon18 foram 78% informativos e 22% não informativos. O marcador mais informativo foi o D7S1870 69%, seguido do Hei 55% e ELN 17/éxon18 em 43%. Houve microdeleção em 56% e ausência em 22%. A origem parental da deleção foi 9 materna e 8 paterna. As alterações craniofaciais e cardiovasculares não tiveram diferenças estatisticamente significantes entre portadores e não portadores da microdeleção. O comportamento amigável resultou numa diferença estatística muito significante (p=0,006) onde 88% tinham e 28% não tinham microdeleção. A hiperacusia teve diferença estatística significante (p=0,020) presente em 55% dos pacientes com microdeleção. CONCLUSÃO: Os dados obtidos demonstraram que os marcadores utilizados são úteis no diagnóstico da SWB e acessível para utilização em serviço público. / INTRODUCTION: Williams-Beuren syndrome (WBS) results of ~1.5 Mb commonly deleted region chromosome 7q11.23 in 90-95% of all clinically typical cases. The clinical manifestations can be variable and is a developmental disorder with multisystem manifestations caused by haploinsufficiency for contiguous genes in this region. OBJECTIVE: Polimorphic markers were tested to determine the proportion of patients with and without microdeletion, to compare the clinical features and to establish the parental origin of the deletion. METHODS: 32 probands with WBS ascertained according to well-established diagnostic criteria. Genotyping using polimorphic markers D7S1870, Eln 17/éxon18 and Hei was performed on DNA from the patients and their available parents. RESULTS: The three markers were informative in 78% and non informative in 22%. The best marker was D7S1870 with 69%, followed by Hei in 55% and ELN 17/éxon18 in 43%.The microdeletion was present in 56% and absent in 22%. Craniofacial and cardiovascular alterations did not have significant statistical differences between probands with or without microdeletion. Two following characteristics (friendly personality and hyperacusia) were more frequent in the deleted group and these differences were statistical significant (p=0,006 and 0,02 respectively). CONCLUSIONS: Polimorphic markers used here demonstrated its viability and utility for the confirmation diagnosis of SWB in a public service.

The research presented in this thesis combined a number of aims. One was to investigate in detail the early typical development of individual cognitive domains including attention, literacy and numeracy, and consequently to investigate whether domain-general attentional abilities constrain the development of either literacy or numeracy skills in preschool to school-age children. A further aim was to test the development of the same cognitive processes in two groups of children with developmental disorders of known genetic origin; Down syndrome (DS) and Williams syndrome (WS). A combination of standardised tests, novel experimental paradigms, and questionnaire measures were employed in pursuit of these aims, and children were assessed both cross-sectionally and longitudinally one year later. In typically developing (TD) children, novel findings pointed to differential influences of cognitive constructs of sustained and selective attention on the one hand, and executive attention on the other, on reading and numeracy abilities longitudinally. In both of the atypically developing groups of children, novel and individual patterns of developmental relationships emerged in the domains of attention, literacy and numeracy. In addition, the investigation of cross-domain relationships between attentional abilities and literacy and numeracy skills evidenced typical patterns in DS children, but atypical patterns in WS children. These findings emphasize the importance of cross-syndrome, cross-domain, and fully developmental research to understand both typical and atypical profiles of cognitive development. Furthermore, teaching practice, early identification of difficulties, and interventions should consider the wider implications of potential constraints of broader cognitive domains, such as attention, on learning.

Background: Current literature on caregivers of children with chronic illnesses and developmental disabilities primarily focuses on negative aspects of adjustment, with maternal stress and depression as common outcome variables (Duvdevany & Abboud, 2003; Shin and Crittenden, 2003). While these pediatric caregivers have been shown to struggle more than caregivers of typically developing children, the possibility of positive psychological outcomes from such an experience is only beginning to be explored (Kim, Greenberg, Seltzer & Krauss, 2003; Scallan, Senior & Reilly, 2010). One such positive outcome is the idea of Posttraumatic Growth (PTG), a construct for which a widely accepted theoretical model exists (Tedeschi & Calhoun, 2004). This model has yet to be empirically validated and fails to provide an exhaustive picture of PTG. The current study aims to document this phenomenon among caregivers of children with Williams, empirically evaluate a portion of the proposed theoretical model, and explore possible extensions of the model in the form of health behaviors. Methods: Participants included 104 primary caregivers of children with Williams syndrome who were recruited through the Williams Syndrome Association List serve. Caregivers completed an online survey through SurveyMonkey software that included the posttraumatic growth inventory, the deliberate rumination scale, the MOS social support survey, and the taking care of yourself questionnaire. Results: The vast majority of caregivers reported some degree of growth following a diagnosis of Williams syndrome (M =55.91, SD =22.63), consistent with reports of other pediatric caregivers (Polantinsky & Esprey, 2000). Further, perceived social support was found to predict posttraumatic growth, F(2,73) = 2.488, p=.029, consistent with model predictions. However, perceived social support was not predictive of an increase in deliberate rumination, F(2,72) = 0.143, p=.867, failing to support the mediational model. Finally, posttraumatic growth was not found to predict health behaviors, although those caregivers who reported more posttraumatic growth also reported being less bothered by sleep-related caregiving burdens. Conclusion: Posttraumatic growth is prevalent among Williams syndrome caregivers, indicating the need for future research in facilitating this process among pediatric caregivers and patients alike. Further, a better understanding of the cognitive constructs involved in the posttraumatic growth process is essential. This improved understanding will facilitate more accurate measurement tools for evaluating these cognitive processes along with additional clarity with regards to the theoretical model. Finally, the identification of health behaviors and health belief constructs that are impacted by posttraumatic growth would improve the depth of the theoretical model and improve overall understanding of the construct.

INTRODUÇÃO: Síndrome de Williams-Beuren (SWB) é uma doença genética causada por microdeleções em hemizigose de genes contíguos na região 7q11.23, caracterizada por aspectos faciais típicos, estenose aórtica supravalvar, déficit cognitivo e personalidade amigável. Associa-se com comprometimento funcional em diversas áreas, interferindo no desenvolvimento de habilidades adequadas de comunicação, socialização, realização de atividades da vida diária e desempenho acadêmico. É possível que muitas dessas limitações aumentem a vulnerabilidade de pessoas com SWB a reações de estresse. Não há na literatura nenhum estudo sobre estresse na SWB. OBJETIVOS: Determinar os níveis de estresse em crianças e adolescentes com SWB e comparar com o grupo controle; verificar o nível de estresse entre crianças e adolescentes com SWB que frequentam escola de inclusão e escola especial; correlacionar o nível de estresse em crianças e adolescentes com SWB com coeficiente de inteligência (QI) e caracterizar os tipos de reações de estresse em crianças e adolescentes com SWB. MÉTODOS: A amostra foi composta por um grupo de 40 crianças e adolescentes com idade entre 7 e 18 anos cujo diagnóstico genético-molecular foi positivo para SWB e 40 crianças e adolescentes sem a síndrome para grupo controle, pareado por idade e por sexo. Os instrumentos para avaliação de níveis (normal, alerta. resistência e exaustão) e tipos de reações (físicas, psicológicas, psicológicas com componente depressivo e psicofisiológicas) de estresse foram: Escala de Stress Infantil (ESI) e Inventário de Sintomas de Stress para adulto de Lipp (aplicado xv apenas para o grupo controle com mais de 14 anos de idade). A avaliação de QI foi obtida pelos instrumentos de Escala de Inteligência para Crianças (WISC) e Escala de Inteligência para Adulto (WAIS). RESULTADOS E DISCUSSÃO: Os índices elevados de estresse foram encontrados em 50% dos pacientes com SWB e em 28,6% do grupo controle, cuja diferença foi estatisticamente significante (p<0.001). O nível de estresse total nos pacientes com SWB (alerta 13; resistência 6; exaustão 1) e no grupo controle (alerta 3; resistência 5). Em relação ao tipo da escola, os índices elevados de estresse foram mais frequentes em 69,2% das 13 que frequentaram escola especial do que 40,7% das 27 pacientes que estudaram em escola de inclusão, sem diferença estatisticamente significante. Os pacientes com QI< 60 apresentaram maior índice de estresse em comparação aos pacientes com QI > 60 e < 89 sem diferença estatisticamente significante. Os tipos de reações ao estresse nos pacientes com SWB físicas (57%) e psicológicas com componente depressivo (67%) foram mais frequentes, enquanto que no grupo controle não houve diferença. CONCLUSÃO: As crianças e adolescentes com SWB apresentaram índices elevados de estresse indiferente do tipo de escola que frequentavam. O presente estudo alerta sobre os prejuízos físicos e emocionais que o estresse pode causar às crianças e adolescentes com SWB, que podem estar interferindo nas relações sociais, atividades de vida diária e desempenho acadêmico. Futuras pesquisas sobre estresse na SWB se fazem necessárias, visando melhorar a qualidade de vida / INTRODUCTION: Williams-Beuren syndrome (WBS) is a genetic disease caused by microdeletions in contiguous gene hemizigose 7q11.23 region, characterized by typical facial features, supravalvular aortic stenosis, cognitive impairment and friendly personality. It is associated with functional impairment in several areas, interfering in the development of appropriate communication skills, socialization, performing activities of daily living and academic performance. It is possible that many of these limitations increase the vulnerability of people with WBS to stress reactions. There are no studies in the literature on stress in WBS. OBJECTIVES: To determine the levels of stress in children and adolescents with WBS and compare with the control group, check the level of stress among children and adolescents with WBS attending inclusion school and special school; correlate the level of stress in children and adolescents with WBS with intelligence quotient (IQ) and characterize the types of stress reactions in children and adolescents with WBS. METHODS: The sample comprised a group of 40 children and adolescents aged between 7 and 18 years whose molecular genetic diagnosis was positive for WBS and 40 children and adolescents without the syndrome to the control group, matched by age and sex. The instruments for assessing levels (normal, alert. resistance and exhaustion) and types of reactions (physical, psychological, psychological with depressive components and psycho-physiological) stress were: Child Stress Scale (ESI) and Symptoms of Stress Inventory for adults Lipp (applied only to the control group with more than 14 years of age). The evaluation of IQ was obtained by instruments Intelligence Scale for Children (WISC) and Adult Intelligence Scale (WAIS). RESULTS AND DISCUSSION: The high levels of stress were found in 50% of patients with WBS and 28.6% in the control group, the difference was statistically significant (p <0.001). The level of total stress in patients with WBS (alert,13; resistance 6; one exhaust) and the control group (alert 3, resistance 5). Regarding the type of school, the high levels of stress were more frequent in 69.2% of 13 who attended the special school that 40.7% of 27 patients who studied in inclusion school, but no statistically significant difference. Patients with IQ 60 and <89 with no statistically significant difference. The types of responses to stress in patients with WBS physical (57%) and psychological with depressive component (67%) were more frequent, whereas in the control group there was no difference. CONCLUSION: Children and adolescents with WBS showed high levels of stress regardless of the type of school attended. This study warns about the physical and emotional damage that stress can cause to children and adolescents with WBS, which it may interfering in social relationships, daily activities and academic performance. Future researches on stress in WBS are necessary to improve the quality of life

Compreender as bases do comportamento social e do desenvolvimento socioafetivo humano é essencial tanto para indivíduos com desenvolvimento típico (DT) quanto com transtornos neuropsiquiátricos. A Síndrome de Williams (SW) é uma condição neurogenética rara ocasionada pela deleção de aproximadamente 28 genes no cromossomo 7q11.23. A sintomatologia inclui desde dismorfismos faciais a alterações do funcionamento cognitivo e socioafetivo, com a presença de deficiência intelectual de grau leve a moderado. O processamento de estímulos afetivos tem sido foco de grande interesse em indivíduos com SW. Apesar de parte das pesquisas apontarem que esta população tem habilidade preservada de reconhecimento de expressões facias de emoções positivas e prejuízos no reconhecimento de emoções negativas, este ainda não é um campo consensual. Ao mesmo tempo, estudos indicam maior interesse desta população em relação a música e diferenças no neuroprocessamento de trechos musicais com valência afetiva. O presente trabalho teve por objetivo caracterizar o processamento de estímulos afetivos musicais e visuais em crianças e adolescentes com Síndrome de Williams. O Estudo I buscou validar trechos musicais com valência afetiva em cultura brasileira e analisar o efeito do treino musical na compreensão de emoções em música. Músicas com valência afetiva foram avaliadas pelos participantes de maneira correspondente à emoção pretendida pelo compositor e de forma similar entre as populações brasileiras e canadenses. O efeito do treino musical sobre a habilidade de reconhecer as emoções em música tiveram maior impacto em emoções com maior grau de dificuldade para os participantes como todo. O Estudo II visou caracterizar o perfil musical de crianças e adolescentes com SW e diferenciar o processamento de estímulos afetivos musicais em crianças e adolescentes com SW com as de DT. Pessoas com SW foram avaliadas com maior habilidade musical global. Não foram encontradas diferenças no que diz respeito ao interesse por atividades musicais. O Estudo III teve como objetivos diferenciar habilidade de reconhecimento de emoções o padrão de rastreamento do olhar frente a estímulos afetivos visuais em crianças e adolescentes com SW e SW com sintomas de TEA (SW/TEA). Pessoas com SW desprenderam maior tempo de fixação nos olhos e em faces alegres quando comparadas a faces tristes. Resultados indicam diferença no reconhecimento de emoções e rastreamento de olhar em indivíduos com SW/TEA. Padrão de reconhecimento em estímulos musicais e visuais foi semelhante na população SW, com acentuado prejuízo no reconhecimento de emoções negativas e preservação do reconhecimento de emoções positivas. Este achado reforça a modularidade do processamento neurológico das emoções básicas. Crianças com SW reconheceram mais facilmente estímulos musicais de valência positiva em comparação aos visuais sugerindo que o domínio da música seja um ponto de força desta população / Understand the foundation of social behavior and human social and affective development is essential for both individuals with typical developmental (TD) and neuropsychiatric disorders. Williams Syndrome (WS) is a rare neurogenetic condition caused by the deletion of approximately 28 genes on chromosome 7q11.23. The symptomatology includes from facial dysmorphisms to changes in cognitive and social and affective functioning, with the presence of mild to moderate intellectual deficiency. The processing of affective stimuli has been a focus of great interest in individuals with WS. Although part of the research indicates that this population has preserved ability to recognize face expressions of positive emotions and impairment in the recognition of negative emotions, this is not yet a consensual field. At the same time, studies indicate greater interest of this population in relation to music and differences in the neuroprocessing of musical excerpts with affective valence. The present work aimed to characterize the processing of musical and visual affective stimuli in children and adolescents with Williams Syndrome. Study I sought to validate musical excerpts with affective valence in Brazilian culture and to analyze the effect of musical training on the understanding of emotions in music. Songs with affective valence were evaluated by the participants corresponding to the emotion pretended by the composer and similarly between the Brazilian and Canadian populations. The effect of musical training on the ability to recognize emotions in music has had a greater impact on emotions with a greater degree of difficulty for participants as a whole. Study II aimed to characterize the musical profile of children and adolescents with WS and to differentiate the processing of musical affective stimuli in children and adolescents with WS compered to TD. People with WS were assessed with greater overall musical ability. No differences were found regarding the interest in musical activities. The aim of Study III was to differentiate between the ability to recognize emotions and the pattern of eye tracking in relation to visual affective stimuli in children and adolescents with SW and WS with ASD symptoms. People with SW gave more fixation time to the eyes and happy faces when compared to sad faces. Results indicate difference in the recognition of emotions and eye tracking in individuals with SW / ASD. Recognition pattern in musical and visual stimuli was similar in the WS population, with marked impairment in the recognition of negative emotions and preservation of the recognition of positive emotions. This finding reinforces the modularity of neurological processing of basic emotions. Children with WS recognized easily positive musical stimuli compared to visual ones suggesting that the domain of music is the strength of this population

Orientador: Danilo Moretti-Ferreira / Coorientador: Deise Helena de Souza / Banca: Claudia Aparecida Rainho / Banca: Ester Silveira Ramos / Resumo: A síndrome de Williams-Beuren (SWB) é uma rara afecção genética, caracterizada por varias anormalidades físicas, incluindo dismorfismos faciais, anomalias cardiovasculares, deficiência intelectual e de crescimento, perfil cognitivo característico e ocasionalmente, hipercalcemia infantil transitória, com prevalência de 1/7500. A etiologia da SWB é uma deleção hemizigótica de genes contíguos na região cromossômica 7q11.23. Os tamanhos das deleções mais comum são de 1,5 e 1,8 Mb e abrangem 28 genes. O mecanismo de deleção esta diretamente ligado a regiões cromossômicas repetitivas, denominadas Low Copy Repeats (LCR). Estas regiões repetitivas estão distribuídas por todo genoma, constituindo cerca de 5% de seu total e são o substrato para as recombinações cromossômicas (crossing-over) durante o processo meiótico. Em algumas ocasiões o processo de recombinação pode ocorrer de maneira desigual entre homólogos não alélicos (nonallelic homologous recombination - NAHR), o que pode resultar na deleção, duplicação ou inversão de um gene ou mais genes. Inversões balanceadas podem acarretar em um polimorfismo hemizigótico, tendo sido verificado que a região critica para SWB esta invertida (SWBinv-1) com maior frequência entre genitores de indivíduos com SWB. Dados da literatura sugerem que indivíduos portadores da inversão SWBinv-1 tem uma probabilidade de 22-25% de terem um filho com SWB, comparado com a população geral (5,8%). Nós desenvolvi mos uma estratégia para triagem de possíveis portadores de SWBinv-1, dentre os genitores de indivíduos com SWB, para podermos verificar a frequência desta inversão tanto em pais de crianças com SWB como entre pais de crianças sem SWB no Brasil. Desta forma foram realizadas analises de núcleos interfásicos em esfregaço de sangue pela técnica de hibridação"in situ" por fluorescência (FISH) e comparamos com ... / Abstract: The Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by various physical abnormalities, including facial dimorphisms, cardiovascular abnormalities, intellectual disability and growth characteristic cognitive profile and occasionally transient infantile hypercalcemia, with a prevalence of 1/7500 . The etiology of SWB is a hemizygous deletion of contiguous genes at chromosome region 7q11.23. The most common sizes of deletions are 1.5 and 1.8 Mb and encompass 28 genes. The mechanism of deletion is directly linked to repetitive chromosomal regions, called Low Copy Repeats (LCR). These repetitive regions are distributed throughout the genome, constituting about 5% of its total and are the substrate for chromosomal recombination (crossing-over) during the meiotic process. In some instances the process of recombination can occur unevenly among homologous non-allelic (homologous recombination nonallelic - NAHR), which can result in deletion, duplication or inversion of a gene or more genes. Balanced inversions can result in a hemizygous polymorphism has been found that the critical region for this inverted SWB (SWBinv-1) with greater frequency among parents of individuals with WBS. Published data suggest that individuals inversion SWBinv-1 has a 22-25% chance of having a child with SWB, compared with the general population (5.8%). We we developed a strategy for screening potential carriers SWBinv-1, among the parents of individuals with WBS, so we can check the frequency of this inversion in both parents of children with SWB as between parents of children without SWB in Brazil. Thus analyzes of interphase nuclei were performed on blood smear by technique hybridization "in situ" by fluorescence (FISH) analysis and compared to metaphase and interphase lymphocyte culture. Were part of the sample group and 38 couples in the control group 20 couples. Of the 38 couples in the sample group ... / Doutor

Le syndrome de Williams (SW) est une maladie génétique rare admettant un trouble du développement intellectuel (DI). Sur le plan neuropsychologique, la littérature fait état d’un consensus autour d’un profil dissociatif entre des capacités de langage oral relativement préservées et d’autres habiletés cognitives altérées. Malgré ces spécificités, peu d’études ont investigué le domaine des apprentissages dans cette population, dont celui de la lecture. Les rares résultats rapportés font part de trois hypothèses explicatives quant aux difficultés d’acquisition de la lecture : l’efficience intellectuelle, les capacités méta-phonologiques et, plus récemment, le traitement visuo-spatial.Dans la continuité de ces travaux, cette thèse propose, pour la première fois en France, de mieux comprendre les difficultés d’acquisition de la lecture chez des personnes porteuses du SW. Nos deux objectifs proposaient de caractériser les procédures de lecture et d’identifier les habiletés impliquées dans la mise en place de l’identification des mots écrits.Nos deux premières études présentent un état des lieux de la recherche actuelle auprès des personnes porteuses de DI et du SW. Au-delà du niveau d’efficience intellectuelle, nos observations indiquent que les compétences de lecture existent malgré des déficits de certaines habiletés cognitives. Nos trois derniers articles explicitent les résultats exploratoires de nos deux études, transversale et longitudinale, à l’aide de tests standardisés et d’appariement en âge chronologique, mental, de niveau de vocabulaire et de lecture. Les résultats démontrent une implication des compétences méta-phonologiques et visuo-spatiales, respectivement, lors de la mise en place de la voie sublexicale et de la récupération orthographique des mots écrits.Enfin, nous discutons des prises en charges thérapeutiques et de remédiations pouvant être adaptées à la population que nous étudions, mais plus largement, à d’autres populations atypiques. / Williams syndrome (WS) is a rare genetic disease involving an intellectual developmental disorder (ID). Regarding the neuropsychological level, a consensus around a dissociation profile between relatively preserved oral language and other impaired cognitive abilities is reported in the literature. Despite these specificities, few studies have investigated the learning aspects in this population, and more specifically the reading area. Three explanatory hypotheses are shared by the few reported results regarding the reading acquisition difficulties: intellectual efficiency, metaphonological abilities and, more recently, visuospatial processing. In line with this work, our research attempts, for the first time in France, to better understand the reading difficulties acquisition by people with the WS. Our two objectives were to characterize the reading procedures and to identify the skills involved in the installation of written words identification. Our first two studies present an inventory of the curent research about people with ID and WS. Beyond the level of intellectual efficiency, our observations indicate that these people have reading skills despite the deficits in certain cognitive skills. Our last three articles explain the exploratory results of our two studies, transversal and longitudinal, using standardized tests and matching chronological age, mental age, vocabulary level and reading level. The results demonstrate an involvement of metaphonological and visuospatial skills, respectively, in setting up the sublexical procedure and the orthographic recovery of written words. Finally, we are discussed about therapeutic and remediation treatment that can be appropriate to our study population, but more broadly, to other atypical populations.

The interrelationships between brain, cognition, and behaviour are complex but can be more clearly characterised by studying disorders with an underlying genetic basis. This thesis examined these interrelationships in the context of Williams syndrome (WS), a neurodevelopmental genetic disorder that affects aspects of cognition, behaviour, and brain structure. The principal aims of this thesis were to evaluate the cognitive, behavioural, and neuroanatomical profile of WS individuals and to explore the relationships between aspects of the cognitive and behavioural profile and the neuroanatomical changes that are evident in WS. Three general hypotheses, and 10 specific hypotheses, were postulated as a means of exploring these aims. The first general hypothesis predicted that WS individuals would demonstrate distinct features within their cognitive and behavioural profile. Specifically, it was predicted that WS individuals would show relative strengths on verbal tasks and significant deficits on visuospatial and mathematical tasks, in contrast to control participants who were predicted to show a more even profile. It was also predicted that WS individuals would show evidence of heightened affect in response to music and demonstrate hypersociability as compared to control participants

Thesis (Ph. D.)--University of California, San Diego and San Diego State University, 2003. / Vita. Includes bibliographical references.

The interrelationships between brain, cognition, and behaviour are complex but can be more clearly characterised by studying disorders with an underlying genetic basis. This thesis examined these interrelationships in the context of Williams syndrome (WS), a neurodevelopmental genetic disorder that affects aspects of cognition, behaviour, and brain structure. The principal aims of this thesis were to evaluate the cognitive, behavioural, and neuroanatomical profile of WS individuals and to explore the relationships between aspects of the cognitive and behavioural profile and the neuroanatomical changes that are evident in WS. Three general hypotheses, and 10 specific hypotheses, were postulated as a means of exploring these aims. The first general hypothesis predicted that WS individuals would demonstrate distinct features within their cognitive and behavioural profile. Specifically, it was predicted that WS individuals would show relative strengths on verbal tasks and significant deficits on visuospatial and mathematical tasks, in contrast to control participants who were predicted to show a more even profile. It was also predicted that WS individuals would show evidence of heightened affect in response to music and demonstrate hypersociability as compared to control participants