Spelling suggestions: "subject:"williams syndrome"" "subject:"gwilliams syndrome""
1 |
Williams syndrome : links between brain, cognition, and behaviour /Martens, Marilee A. January 2005 (has links)
Thesis (Ph.D.)--University of Melbourne, Dept. of Psychology, 2005. / Typescript. Includes bibliographical references (leaves 246-290).
|
2 |
The relationship between music and emotion, as conveyed by Prosody, in indivuduals with Williams Syndrome /Abbey-Warn, Bonnie. January 2006 (has links) (PDF)
Undergraduate honors paper--Mount Holyoke College, 2006. Dept. of Psychology and Education. / Text also included on accompanying CD-ROM. Includes bibliographical references (leaves 86-89).
|
3 |
Developmental psychopathology in children with Williams syndromeChasouris, Antonios January 2008 (has links)
Williams syndrome (WS) is a genetic disorder that results in a wide variety of impairments, involving most of the areas of development. Although significant variability has been found among children with Williams syndrome in terms of the phenotype, the idea of a typical WS profile is still predominant in the literature. However, the clinically observed widespread differences have caused clinicians to often speak about partial deletions, atypical deletions or inconclusive cases. In addition, some researchers have put forward the notion that the size of the deleted area might have an influence in both quantitative and qualitative aspects of the phenotypical characteristics. This thesis explores the differences in cognitive ability and attainment of developmental milestones in children with WS. Four experimental studies have been conducted involving a total number of 74 children between the ages of few months to the age of 18 years. Study 1 investigated the effect of deletion size in the cognitive ability of WS children, as this was measured by 4 different IQ tests. Study 2 examined the effect of deletion size in the attainment of developmental milestones, Study 3 examined the longitudinal course of IQ in children with WS and Study 4 examined a clinically observed de novo phenomenon of a strong leftward bias affecting attention and short term visuospatial memory. Studies 1 and 2 demonstrated an effect of deletion size on the cognitive abilities of children with WS. The greater the deletion size in the 7qll.23 area, the lower the performance on measures of cognitive ability and the longer and more problematic the attainment of developmental milestones. Study 3 indicated that there is a significant increase in the IQ scores of children with the typical deletion. The IQ scores remain however to the mild/moderate retardation - low average area of the IQ scale. Study 4 examined and tried to offer explanatory ideas in a de novo clinically observed phenomenon of a leftward bias affecting attention and visuospatial short term memory. Children with WS encountered great difficulty in detecting and remembering the position of items presented to the right side of a presentation matrix. These findings suggest that deletion size has an influence on both performance on measures of cognitive ability and attainment of developmental milestones, the cognitive ability of children with WS significantly improves with advance of chronological age and that there is a leftwards bias affecting attention and short term visuospatial memory.
|
4 |
Cerebellar contributions to cognition : evidence from Williams syndrome /Laakmann, Wendy Jones. January 2001 (has links)
Thesis (Ph. D.)--University of California, San Diego and San Diego State University, 2001. / Vita. Includes bibliographical references (leaves 159-172).
|
5 |
Pragmatic Language Assessment in Williams SyndromeHoffmann, Anne Katherine 20 July 2011 (has links)
No description available.
|
6 |
Face processing in Williams Syndrome and autismRiby, Deborah M. January 2007 (has links)
Individuals with Williams syndrome (WS) have been characterised as hyper-sociable, showing an extreme compulsion to engage in communication with other people, whilst the opposite has been cited regarding autism. The most important social cue in our environment is the human face, which must be successfully recognised and interpreted for communicative signals. Although clear differences are apparent in social skills, individuals with WS and autism have been described as showing similarly atypical face processing styles. The present research addressed issues of face perception in Williams syndrome and autism to gain further insights into social abilities of individuals with these developmental disorders. Importantly, the research was grounded in typical face perception methods. The investigation began with a large-scale exploration of face skills, probing identity, eye gaze, expressions of emotion and lip reading to ask how these two disorders uniquely impact upon performance. Participants with WS and autism could be dissociated from those with general developmental delay and from each other primarily on the basis of eye gaze ability. Participants with WS showed strong eye gaze abilities whilst participants with autism had extreme difficulties. Although interpretation of expressions of emotion also showed a difference between groups, autism and WS did not uniquely impact upon the processing of identity or lip reading. The exploration also allowed the consideration of models of face perception; characterised by a typical modular structure in WS but a lack of modularity in autism. The second line of inquiry considered identity processing and firstly asked whether participants were more accurate at matching faces from internal or external features. Participants with WS showed an atypical use of internal features for matching unfamiliar faces, which may be linked to an atypical interaction style and exaggerated interest in unfamiliar people. Participants with autism used the same strategy to match faces of familiar and unfamiliar people and hence familiarity did not impact upon processing style. Subsequent chapters probed feature salience (eyes .v. mouth) and structural encoding. Across paradigms typically developing participants and those with WS showed greater accuracy using the eye than mouth region, a pattern not evident in autism. Regarding structural encoding, individuals with WS showed use of configural cues under the task demands implemented in this thesis, where individuals with autism were only able to interpret featural cues. Previous evidence of similar face processing styles in WS and autism were not supported. Taken together the findings provide further insights into face perception and social functioning in WS and autism. The research used the same participants across paradigms, considered level of functioning on the autistic spectrum and included investigations of WS and autism in the same research programme. Additional to the main experimental studies, pilot data is provided to open a new line of investigation into physiological arousal associated with holding eye contact in WS. Therefore, on the basis of the experiments conducted here, a number of suggestions are made to carry the research forward in future investigations. Throughout the thesis as a whole, comparisons are made between individuals with WS and autism that further our understanding of the links between face processing and social expertise.
|
7 |
The lived musical experiences of individuals living with Williams syndrome : an interpretative phenomenological analysis / Ewie ErasmusErasmus, Ewie January 2014 (has links)
This study was inspired by my experiences with a Williams syndrome child, which
drew my attention to the meaningful experiences that children with Williams
syndrome might have with music. The problem of the study can be defined in terms
of five aspects. Firstly, individuals diagnosed with Williams syndrome suffer
medically, socially and cognitively (Levitin & Bellugi, 1998:358-359) and music
seems to be an aspect of their lives that could make things easier for them.
Secondly, those suffering from Williams syndrome seemingly struggle to adapt to
their social surroundings (Bellugi et al., 1994:5). The third aspect that defines the
problem is that families of individuals with Williams syndrome in South Africa do not
have sufficient access to educational facilities that are equipped to work with their
children. This forces them to home school their children without the ability to
educate them optimally. Fourthly, the research problem also stems from the lack of
awareness about the lived musical experiences of individuals living Williams
syndrome. It becomes clear that heightening awareness of the lived musical
experiences of Williams syndrome individuals has not been addressed in research.
Lastly, researchers have yet to undertake in-depth qualitative studies on the
meaning of musical experience for the learning experiences of those suffering from
Williams syndrome.
The purpose of this interpretative phenomenological analysis (IPA) is to understand
the lived musical experiences of individuals living with Williams syndrome in
Southern Africa1. Williams syndrome is defined as a rare genetic disorder which
presents when around 20 genes are deleted on chromosome 7 at conception
(Bellugi et al., 2007:98).
This study follows an IPA approach and aims to gain insight into how participants
understand their lived musical experiences. The theoretical foundations for IPA are
based on “three key areas of philosophical knowledge, namely phenomenology, hermeneutics and idiography” (Smith et al., 2009: 11). For this study data were collected by conducting in-depth semi-structured interviews with three purposefully selected participants. The interview transcriptions were then analysed separately using ATLAS.ti 7 computer software. After each interview transcript was analysed individually, superordinate themes emerged from a cross-case analysis.
The results of the study revealed four superordinate themes regarding the musical experiences of the three Williams syndrome participants: a passion for performing, fostering friendships, lightens the load and dependent on music. The study found that music contributes to the overall well-being of the three participants in a way that allows them to feel accepted by others and to escape the label of being diagnosed Williams syndrome. / MMus (Musicology), North-West University, Potchefstroom Campus, 2015
|
8 |
The lived musical experiences of individuals living with Williams syndrome : an interpretative phenomenological analysis / Ewie ErasmusErasmus, Ewie January 2014 (has links)
This study was inspired by my experiences with a Williams syndrome child, which
drew my attention to the meaningful experiences that children with Williams
syndrome might have with music. The problem of the study can be defined in terms
of five aspects. Firstly, individuals diagnosed with Williams syndrome suffer
medically, socially and cognitively (Levitin & Bellugi, 1998:358-359) and music
seems to be an aspect of their lives that could make things easier for them.
Secondly, those suffering from Williams syndrome seemingly struggle to adapt to
their social surroundings (Bellugi et al., 1994:5). The third aspect that defines the
problem is that families of individuals with Williams syndrome in South Africa do not
have sufficient access to educational facilities that are equipped to work with their
children. This forces them to home school their children without the ability to
educate them optimally. Fourthly, the research problem also stems from the lack of
awareness about the lived musical experiences of individuals living Williams
syndrome. It becomes clear that heightening awareness of the lived musical
experiences of Williams syndrome individuals has not been addressed in research.
Lastly, researchers have yet to undertake in-depth qualitative studies on the
meaning of musical experience for the learning experiences of those suffering from
Williams syndrome.
The purpose of this interpretative phenomenological analysis (IPA) is to understand
the lived musical experiences of individuals living with Williams syndrome in
Southern Africa1. Williams syndrome is defined as a rare genetic disorder which
presents when around 20 genes are deleted on chromosome 7 at conception
(Bellugi et al., 2007:98).
This study follows an IPA approach and aims to gain insight into how participants
understand their lived musical experiences. The theoretical foundations for IPA are
based on “three key areas of philosophical knowledge, namely phenomenology, hermeneutics and idiography” (Smith et al., 2009: 11). For this study data were collected by conducting in-depth semi-structured interviews with three purposefully selected participants. The interview transcriptions were then analysed separately using ATLAS.ti 7 computer software. After each interview transcript was analysed individually, superordinate themes emerged from a cross-case analysis.
The results of the study revealed four superordinate themes regarding the musical experiences of the three Williams syndrome participants: a passion for performing, fostering friendships, lightens the load and dependent on music. The study found that music contributes to the overall well-being of the three participants in a way that allows them to feel accepted by others and to escape the label of being diagnosed Williams syndrome. / MMus (Musicology), North-West University, Potchefstroom Campus, 2015
|
9 |
A Comparative Analysis of the Patterns of Language Development between Children with Williams syndrome and Children with Down syndromeHart, Erin Elizabeth January 2011 (has links)
Thesis advisor: Penny Hauser-Cram / Williams syndrome (WS) is a genetic disorder marked by a microdeletion of approximately 25 genes on chromosome 7. Down syndrome (DS) is a genetic disorder marked by a chromosomal abnormality in which an additional copy of chromosome 21 is present in some or all cells. A comparative analysis of language acquisition between populations of children with WS and populations of children with DS yielded largely different patterns in language development. Phonology was found to be largely intact in children with WS, while children with DS struggled to produce intelligible and articulate speech. Semantics proved an area of relative strength in comparison to other areas of language development in both populations. Syntax was found to be a relative strength in the WS population, while children with DS struggled with syntactic output. Both groups exhibited difficulties in syntactic processing. In contrast to common conceptions regarding pragmatic strengths in children with WS, results indicated that gesture, narrative and discourse were areas of relative weakness in this population. Gesture, narrative and discourse proved areas of relative strength for children with DS. / Thesis (BA) — Boston College, 2011. / Submitted to: Boston College. College of Arts and Sciences. / Discipline: College Honors Program.
|
10 |
Correlações entre sono-vigília, memória e melatonina em Síndrome de Williams-Beuren /Santoro, Stella Donadon. January 2014 (has links)
Orientador: Luciana Pinato / Banca: Renata Frazão / Banca: Célia Maria Giacheti / Resumo: A síndrome de Williams-Beuren (SWB), causada por uma microdeleção na região cromossômica 7q.11.23, apresenta como fenótipo: características faciais típicas, baixa estatura, anormalidades cardiovasculares e do tecido conjuntivo, perfil cognitivo e personalidade ímpar, além de deficiência intelectual em diferentes graus. Recentes estudos relatam alta prevalência de distúrbios do sono nesta população os quais podem indicar uma possível disfunção em sua ritmicidade biológica, agravando seus problemas comportamentais e de aprendizagem. Apesar das consequências negativas dos distúrbios do sono sobre o desempenho cognitivo e aspectos comportamentais, poucos estudos exploraram esta questão e ainda não está claro se o padrão de sono-vigília apresenta correlação com o padrão comportamental na SWB. O sono é um fenômeno biológico controlado por uma complexa rede neural composta por vias de sinalização e processos regulatórios nos níveis molecular, celular e organísmico. Neste cenário, a melatonina, hormônio produzido pela glândula pineal na fase de escuro, apresenta comprovada importância para o início, manutenção e qualidade do sono, sendo que, alterações em sua síntese estão muitas vezes associadas às causas dos distúrbios de sono. Distúrbios do sono, por sua vez, podem estar relacionados com alterações de memória, que compõem o fenótipo da SWB. Assim sendo, este estudo teve o intuito de caracterizar o padrão de 10 sono-vigília, de comportamento e avaliar os níveis de atenção e memória na SWB, e correlacioná-los aos níveis de melatonina em SWB. O grupo pesquisa (GP) foi composto por 15 crianças de 6 a 17 anos, com SWB, e o grupo controle (GC) composto por 15 crianças pareadas ao GP por idade, com ausência de histórico para doenças genéticas, neurológicas ou alterações de desenvolvimento cognitivo e motor. Foram utilizados para a coleta de dados a Escala de... / Abstract: The Williams-Beuren syndrome (WBS), caused by a microdelection in the chromosomal region 7q.11.23, shows a phenotype as typical facial features, short stature, cardiovascular abnormalities and connective tissue disorders, cognitive profile and unique personality, besides intellectual disability in different degrees. Recent studies reported high prevalence of sleep problems in this population which may indicate a possible biological rhythm disorder in these individuals, worsening their behavior and learning problems. Despite the negative consequences of sleep disorders on cognitive performance and behavioral aspects, few studies have explored this issue and it is unclear whether the sleep-wake pattern is correlated with behavioral patterns in WBS. Sleep is a biological phenomenon controlled by a complex neural network consisting of signaling pathways and regulatory processes in molecular, cellular and organismic levels. In this scenario, melatonin, a hormone produced by the pineal gland during the dark, has been showed important for the initiation, maintenance and quality of sleep, and that changes in its synthesis are often associated with the causes of sleep disorders. Sleep disorders can be related with memory problems, component of the WBS phenotype. Therefore this study is aimed at characterizing the pattern of sleep-wake behavior, assess levels of attention and memory, and correlate them to melatonin levels in WBS. The study group (GP) consisted of 15 children 6-17 years old with WBS, and the control group (GC) composed of 15 children matched for age, with no history to genetic disorders, or neurological changes in cognitive and motor development. For data collection, were used the Sleep Disturbance Scale for Children (EDSC), the Child Behavior Checklist for ages 6-18 (CBCL) parents version, WISC-III and WAIS-III for the characterization of cognitive abilities, visual sequential memory subtest of the brazilian 13 version of the Illinois... / Mestre
|
Page generated in 0.0494 seconds