subject:(Williams Syndrome)

University of Toronto

1. O'Leary, Jennifer Anne. Global Analysis of Gene Expression in the Developing Brain of Gtf2ird1-/- Mice.

Degree: 2011, University of Toronto

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Williams-Beuren Syndrome (WBS) is an autosomal dominant neurodevelopmental disorder caused by hemizygous deletion of a 1.5 Mb region on chromosome 7q11.23. Symptoms are numerous and… (more)

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Williams-Beuren Syndrome (WBS) is an autosomal dominant neurodevelopmental disorder caused by hemizygous deletion of a 1.5 Mb region on chromosome 7q11.23. Symptoms are numerous and include behavioural and cognitive components. One of the deleted genes, GTF2IRD1, a putative transcription factor, has been implicated in the neurological features of WBS by studying patients with atypical deletions of 7q11.23. Gtf2ird1-targeted mice have features consistent with the WBS phenotype, namely reduced innate fear and increased sociability. To identify neural targets of GTF2IRD1, microarray analyses were performed comparing gene expression in whole brains of Gtf2ird1-/- and wildtype (WT) mice at embryonic day 15.5 and at birth. Overall, the changes in gene expression in the mutant mice were not striking, with most falling in the range of 0.3 to 2 fold. qRT-PCR was used to verify the expression levels of candidate genes and examination of verified genes revealed that most were located on chromosome 5, within 50 Mb of Gtf2ird1. Expression of these candidate genes in Gtf2ird1-/- mice was found to be the same as in WT 129S1/SvImJ mice, indicating the differences were the result of flanking chromosomal material from the, 129-derived, R1 ES cells from which the Gtf2ird1-/- mice were generated, and that expression differences were unrelated to Gtf2ird1 dosage. Further analysis found that while many genes showed decreased expression using primers targeting the 3’ UTR, expression of upstream exons was not affected. Transcripts using alternative polyadenylation sites were identified using 3’ RACE, and qRT-PCR showed that expression of different 3’ UTR isoforms can occur in a strain specific manner. Expression analysis of previously identified GTF2IRD1 targets also failed to demonstrate an in vivo effect. In summary, I was unable to find any in vivo neuronal targets of this putative transcription factor, despite its robust expression in the developing rodent brain.

PhD

Advisors/Committee Members: Osborne, Lucy, Molecular and Medical Genetics.

Subjects/Keywords: Williams-Beuren syndrome; Gtf2ird1; 0369

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

O'Leary, J. A. (2011). Global Analysis of Gene Expression in the Developing Brain of Gtf2ird1-/- Mice. (Doctoral Dissertation). University of Toronto. Retrieved from http://hdl.handle.net/1807/31885

Chicago Manual of Style (16^th Edition):

O'Leary, Jennifer Anne. “Global Analysis of Gene Expression in the Developing Brain of Gtf2ird1-/- Mice.” 2011. Doctoral Dissertation, University of Toronto. Accessed March 03, 2021. http://hdl.handle.net/1807/31885.

MLA Handbook (7^th Edition):

O'Leary, Jennifer Anne. “Global Analysis of Gene Expression in the Developing Brain of Gtf2ird1-/- Mice.” 2011. Web. 03 Mar 2021.

Vancouver:

O'Leary JA. Global Analysis of Gene Expression in the Developing Brain of Gtf2ird1-/- Mice. [Internet] [Doctoral dissertation]. University of Toronto; 2011. [cited 2021 Mar 03]. Available from: http://hdl.handle.net/1807/31885.

Council of Science Editors:

O'Leary JA. Global Analysis of Gene Expression in the Developing Brain of Gtf2ird1-/- Mice. [Doctoral Dissertation]. University of Toronto; 2011. Available from: http://hdl.handle.net/1807/31885

Drexel University

2. Cornell, Brett Thomas. 14-3-3 Proteins in Neuronal Migration and Neuromorphogenesis during Cortical Development and Neurodevelopmental Disorders.

Degree: 2017, Drexel University

URL: http://hdl.handle.net/1860/idea:7420

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The development of the human brain is a vastly complex process resulting in an elaborate network of over one hundred billion neurons, with each neuron… (more)

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The development of the human brain is a vastly complex process resulting in an elaborate network of over one hundred billion neurons, with each neuron having thousands of synaptic connections. The proper organization of these cells and the formation of their processes is essential for the construction of a functional brain. Disruptions in this process result in a number of developmental disorders; including, epilepsy and autism spectrum disorder (ASD). 17p13.3 microduplication syndrome is a newly identified genetic disorder resulting in a variety of defects including ASD. Importantly, a minimum duplication region strongly associated with ASD has been classified and exclusively contains the gene encoding the protein 14-3-3[epsilon], strongly implicating the overexpression of 14-3-3[epsilon] in ASD. Using in vitro and in vivo techniques, we have found that 14-3-3[epsilon] binds to the microtubule binding protein doublecortin, preventing its degradation resulting in increased doublecortin protein levels. We also found that 14-3-3[epsilon] overexpression disrupts neurite formation by preventing the invasion of microtubules into primitive neurites, which can be rescued by the knockdown of doublecortin. Our findings provide the first evidence of cellular pathology in 17p13.3 microduplication syndrome. In addition the functions of 14-3-3[epsilon] in cortical development, in this work we have also analyzed the role of 14-3-3[gamma], another 14-3-3 isoform. Williams Syndrome (WS) is a neurodevelopmental disorder caused by deletions in the 7q11.23 chromosome locus resulting in intellectual disabilities. Typical WS patients present a 1.5-1.8Mb deletion whereas atypical patients have a larger than 1.8 Mb deletion, which includes the gene encoding 14-3-3[gamma]. Interestingly, atypical WS patients commonly exhibit epilepsy. Furthermore, there is a reciprocal duplication syndrome to WS, which also results in epilepsy and intellectual disabilities. Taken together with the fact that defects in neuronal migration typically result in epilepsy, we analyzed if the overexpression and knockdown of 14-3-3[gamma] causes neuronal migration defects. We found that the overexpression and the knockdown of 14-3-3[gamma] in utero results in delays in neuronal migration due to decreased neuronal migration velocity. Furthermore, we found no defects in neurogenesis when 14-3-3[gamma] levels are altered. These results indicate that balanced expression of 14-3-3[gamma] is required for proper neuronal migration.

Ph.D., Neuroscience – Drexel University, 2017

Advisors/Committee Members: Toyooka, Kazuhito, College of Medicine.

Subjects/Keywords: Autism spectrum disorders; Williams syndrome

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APA (6^th Edition):

Cornell, B. T. (2017). 14-3-3 Proteins in Neuronal Migration and Neuromorphogenesis during Cortical Development and Neurodevelopmental Disorders. (Thesis). Drexel University. Retrieved from http://hdl.handle.net/1860/idea:7420

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Cornell, Brett Thomas. “14-3-3 Proteins in Neuronal Migration and Neuromorphogenesis during Cortical Development and Neurodevelopmental Disorders.” 2017. Thesis, Drexel University. Accessed March 03, 2021. http://hdl.handle.net/1860/idea:7420.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Cornell, Brett Thomas. “14-3-3 Proteins in Neuronal Migration and Neuromorphogenesis during Cortical Development and Neurodevelopmental Disorders.” 2017. Web. 03 Mar 2021.

Vancouver:

Cornell BT. 14-3-3 Proteins in Neuronal Migration and Neuromorphogenesis during Cortical Development and Neurodevelopmental Disorders. [Internet] [Thesis]. Drexel University; 2017. [cited 2021 Mar 03]. Available from: http://hdl.handle.net/1860/idea:7420.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Cornell BT. 14-3-3 Proteins in Neuronal Migration and Neuromorphogenesis during Cortical Development and Neurodevelopmental Disorders. [Thesis]. Drexel University; 2017. Available from: http://hdl.handle.net/1860/idea:7420

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Louisville

3. John, Angela E. The regulatory function of social referencing in preschoolers with Down syndrome or Williams syndrome.

Degree: PhD, 2011, University of Louisville

URL: 10.18297/etd/694 ; https://ir.library.louisville.edu/etd/694

► The present project examined the regulatory function of social referencing in two neurodevelopmental disorders that have been well defined genetically and are characterized by differing… (more)

▼ The present project examined the regulatory function of social referencing in two neurodevelopmental disorders that have been well defined genetically and are characterized by differing patterns of socio-cognitive development: Down syndrome (DS) and Williams syndrome (WS). In addition, since the social referencing process requires children to coordinate three fundamental abilities (initiation of joint attention, gaze following, emotional responsivity), the present project also included three follow-up studies which examined these abilities separately. Participants were 21 children with DS (M age = 4.97 years; SD = .74) and 21 children with WS (M age = 4.92 years; SD = .76) closely matched on age and gender. The results of the Social Referencing task indicated that the majority of children in both diagnostic groups formed positive opinions about the ambiguous stimulus when the adult communicated a joyful nonverbal message but had difficulty using the adult's expression of fear to regulate their behavior in response to the ambiguous stimulus. Children with DS were more likely than were children with WS to shift gaze between the adult and the ambiguous stimulus. However, the children with DS frequently formed a positive opinion of the fearful stimulus and were more likely than were the children with WS to touch the stimulus. When the adult reacted fearfully to the ambiguous stimulus, the longest look directed to her by children with WS was significantly longer than the longest look directed by children with DS. In addition, children with WS were less likely to form an opinion of the fearful stimulus and more likely than children with DS to resort to superficially imitating the adult's display as opposed to using the adult's opinion of the stimulus to form their own. The results of the follow-up studies demonstrated that children with DS were more likely than were children with WS to initiate joint attention with the adult and to respond to joint attention in triadic situations. In addition, in a situation with a reduced attentional demand on the child than that used in the Social Referencing task, results indicated that the majority of children in both groups formed a positive opinion of the stimulus when the adult communicated a joyful message about it. However, when the adult communicated a fearful message, only one child in each group formed a negative opinion of the stimulus. In summary, the results indicate that there are both similarities and differences in the problems encountered by children with DS and children with WS in the social referencing process. Both groups had difficulty interpreting the communicative significance of fearful reactions. However, children with DS were more successful than children with WS both at coordinating attention in triadic interactions and at identifying the source of the adult's interest. Furthermore, despite demonstrating poorer overall intellectual ability and more limited verbal ability, children with DS evidenced better executive functioning than did children with WS. This… Advisors/Committee Members: Mervis, Carolyn B..

Subjects/Keywords: Down syndrome; Williams syndrome; Social referencing

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

John, A. E. (2011). The regulatory function of social referencing in preschoolers with Down syndrome or Williams syndrome. (Doctoral Dissertation). University of Louisville. Retrieved from 10.18297/etd/694 ; https://ir.library.louisville.edu/etd/694

Chicago Manual of Style (16^th Edition):

John, Angela E. “The regulatory function of social referencing in preschoolers with Down syndrome or Williams syndrome.” 2011. Doctoral Dissertation, University of Louisville. Accessed March 03, 2021. 10.18297/etd/694 ; https://ir.library.louisville.edu/etd/694.

MLA Handbook (7^th Edition):

John, Angela E. “The regulatory function of social referencing in preschoolers with Down syndrome or Williams syndrome.” 2011. Web. 03 Mar 2021.

Vancouver:

John AE. The regulatory function of social referencing in preschoolers with Down syndrome or Williams syndrome. [Internet] [Doctoral dissertation]. University of Louisville; 2011. [cited 2021 Mar 03]. Available from: 10.18297/etd/694 ; https://ir.library.louisville.edu/etd/694.

Council of Science Editors:

John AE. The regulatory function of social referencing in preschoolers with Down syndrome or Williams syndrome. [Doctoral Dissertation]. University of Louisville; 2011. Available from: 10.18297/etd/694 ; https://ir.library.louisville.edu/etd/694

University of California – San Diego

4. Groeniger, Kimberly Mieko. Decreased Density of Serotonin Transporting Fibers in the Infant Williams Syndrome Amygdala.

Degree: Biology, 2018, University of California – San Diego

URL: http://www.escholarship.org/uc/item/5t38t9bs

► Williams Syndrome (WS) is a rare neurodevelopmental disorder characterized by a known genetic profile, hypersociability, and increased attention. This unique embodiment of social atypicalities allows… (more)

Subjects/Keywords: Neurosciences; amygdala; serotonin; serotonin transporter; Williams Syndrome

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Groeniger, K. M. (2018). Decreased Density of Serotonin Transporting Fibers in the Infant Williams Syndrome Amygdala. (Thesis). University of California – San Diego. Retrieved from http://www.escholarship.org/uc/item/5t38t9bs

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Groeniger, Kimberly Mieko. “Decreased Density of Serotonin Transporting Fibers in the Infant Williams Syndrome Amygdala.” 2018. Thesis, University of California – San Diego. Accessed March 03, 2021. http://www.escholarship.org/uc/item/5t38t9bs.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Groeniger, Kimberly Mieko. “Decreased Density of Serotonin Transporting Fibers in the Infant Williams Syndrome Amygdala.” 2018. Web. 03 Mar 2021.

Vancouver:

Groeniger KM. Decreased Density of Serotonin Transporting Fibers in the Infant Williams Syndrome Amygdala. [Internet] [Thesis]. University of California – San Diego; 2018. [cited 2021 Mar 03]. Available from: http://www.escholarship.org/uc/item/5t38t9bs.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Groeniger KM. Decreased Density of Serotonin Transporting Fibers in the Infant Williams Syndrome Amygdala. [Thesis]. University of California – San Diego; 2018. Available from: http://www.escholarship.org/uc/item/5t38t9bs

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Wisconsin – Milwaukee

5. Schwarz, Gregor Nathanael Pau. Relations Between Lab-Based and Parent-Reported Executive Functioning in Children and Adolescents with Williams Syndrome.

Degree: MS, Psychology, 2016, University of Wisconsin – Milwaukee

URL: https://dc.uwm.edu/etd/1199

► Williams syndrome (WS) is a rare genetic disorder characterized by lowered cognitive abilities and significant attention and executive functioning (EF) difficulties. The current study… (more)

Subjects/Keywords: Executive Functioning; Williams Syndrome; Clinical Psychology

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Schwarz, G. N. P. (2016). Relations Between Lab-Based and Parent-Reported Executive Functioning in Children and Adolescents with Williams Syndrome. (Thesis). University of Wisconsin – Milwaukee. Retrieved from https://dc.uwm.edu/etd/1199

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Schwarz, Gregor Nathanael Pau. “Relations Between Lab-Based and Parent-Reported Executive Functioning in Children and Adolescents with Williams Syndrome.” 2016. Thesis, University of Wisconsin – Milwaukee. Accessed March 03, 2021. https://dc.uwm.edu/etd/1199.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Schwarz, Gregor Nathanael Pau. “Relations Between Lab-Based and Parent-Reported Executive Functioning in Children and Adolescents with Williams Syndrome.” 2016. Web. 03 Mar 2021.

Vancouver:

Schwarz GNP. Relations Between Lab-Based and Parent-Reported Executive Functioning in Children and Adolescents with Williams Syndrome. [Internet] [Thesis]. University of Wisconsin – Milwaukee; 2016. [cited 2021 Mar 03]. Available from: https://dc.uwm.edu/etd/1199.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Schwarz GNP. Relations Between Lab-Based and Parent-Reported Executive Functioning in Children and Adolescents with Williams Syndrome. [Thesis]. University of Wisconsin – Milwaukee; 2016. Available from: https://dc.uwm.edu/etd/1199

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of New South Wales

6. Chang, Cecilia Chin Roei. Understanding the cellular neuropathology associated with the motor coordination dysfunction in a mouse model of Williams-Beuren Syndrome.

Degree: Medical Sciences, 2015, University of New South Wales

URL: http://handle.unsw.edu.au/1959.4/54891 ; https://unsworks.unsw.edu.au/fapi/datastream/unsworks:36095/SOURCE02?view=true

► Williams-Beuren Syndrome (WBS) is a neurodevelopmental genetic disorder caused by the hemizygous deletion of 28 genes on chromosome 7q11.23. Human gene mapping data suggest that… (more)

▼ Williams-Beuren Syndrome (WBS) is a neurodevelopmental genetic disorder caused by the hemizygous deletion of 28 genes on chromosome 7q11.23. Human gene mapping data suggest that GTF2IRD1 contributes to the neurological characteristics of WBS and Gtf2ird1 knockout (KO) mice display neurological phenotypes that parallel some of the WBS features, including hyperactivity and motor dysfunction. Gtf2ird1 is strongly expressed in the Purkinje neurons (PN) of the cerebellum and the medium spiny neurons (MSNs) of the striatum. Structural changes in these sites could explain the motor abnormalities. MRI analysis showed no significant difference in overall brain volume. However, calbindin immunofluorescence analysis revealed that both PN density and PN soma size was significantly reduced in KO mice. The Golgi silver impregnation technique revealed a significant reduction in the dendritic branch points and spine density in PNs and a reduction in spine density in MSNs. Primary cell culture of isolated PNs was employed to determine if these defects are cell intrinsic or extrinsic. The total surface area of PN cultured from the cerebellum revealed a reduction in the KO neurons, reflecting a reduction of dendritic arborisation that must be intrinsic.These studies provide insights into the role of GTF2IRD1 at the cellular level. While no changes were seen in the brains of knockout mice at the macro scale, morphological changes were observed in Gtf2ird1-expressing cell types, suggesting that loss of GTF2IRD1 causes developmental defects in neurons that normally express this protein. Reduction of dendritic tree arborisation, as observed in the KO mice, would reduce the surface area available for synapses with the axon terminals of cerebellar interneurons, therefore impairing the capability of the whole communication network to generate normal output signals, which are transmitted via the axons of the PNs. The reduction in spine density also indicates reduced synaptic activity. PN and MSNs are GABAergic and their inhibitory functions serve to regulate motor movements through axonal projections to the deep cerebellar nuclei and to the globus pallidus and substantia nigra respectively. Hence, these abnormalities in cellular morphology indicate underlying abnormalities in function that could explain the motor dysfunction in Gtf2ird1 KO mice and in WBS.

Subjects/Keywords: Purkinje neurons; Williams Beuren syndrome; Motor Coordination

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Chang, C. C. R. (2015). Understanding the cellular neuropathology associated with the motor coordination dysfunction in a mouse model of Williams-Beuren Syndrome. (Masters Thesis). University of New South Wales. Retrieved from http://handle.unsw.edu.au/1959.4/54891 ; https://unsworks.unsw.edu.au/fapi/datastream/unsworks:36095/SOURCE02?view=true

Chicago Manual of Style (16^th Edition):

Chang, Cecilia Chin Roei. “Understanding the cellular neuropathology associated with the motor coordination dysfunction in a mouse model of Williams-Beuren Syndrome.” 2015. Masters Thesis, University of New South Wales. Accessed March 03, 2021. http://handle.unsw.edu.au/1959.4/54891 ; https://unsworks.unsw.edu.au/fapi/datastream/unsworks:36095/SOURCE02?view=true.

MLA Handbook (7^th Edition):

Chang, Cecilia Chin Roei. “Understanding the cellular neuropathology associated with the motor coordination dysfunction in a mouse model of Williams-Beuren Syndrome.” 2015. Web. 03 Mar 2021.

Vancouver:

Chang CCR. Understanding the cellular neuropathology associated with the motor coordination dysfunction in a mouse model of Williams-Beuren Syndrome. [Internet] [Masters thesis]. University of New South Wales; 2015. [cited 2021 Mar 03]. Available from: http://handle.unsw.edu.au/1959.4/54891 ; https://unsworks.unsw.edu.au/fapi/datastream/unsworks:36095/SOURCE02?view=true.

Council of Science Editors:

Chang CCR. Understanding the cellular neuropathology associated with the motor coordination dysfunction in a mouse model of Williams-Beuren Syndrome. [Masters Thesis]. University of New South Wales; 2015. Available from: http://handle.unsw.edu.au/1959.4/54891 ; https://unsworks.unsw.edu.au/fapi/datastream/unsworks:36095/SOURCE02?view=true

Universidade do Rio Grande do Sul

7. Araujo, Gustavo Andrade de. Os efeitos da musicoterapia na memória não declarativa de crianças com síndrome do alcool fetal e com síndrome de Williams.

Degree: 2015, Universidade do Rio Grande do Sul

URL: http://hdl.handle.net/10183/129689

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O objetivo deste estudo foi investigar os efeitos do tratamento musicoterapêutico aplicado ao desenvolvimento da memória não declarativa em crianças com Síndrome de Williams (SW)… (more)

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O objetivo deste estudo foi investigar os efeitos do tratamento musicoterapêutico aplicado ao desenvolvimento da memória não declarativa em crianças com Síndrome de Williams (SW) e com Síndrome do Álcool Fetal (SAF). Foram conduzidos dois experimentos de antes e depois. Um incluindo 10 indivíduos com SW e outro 10 indivíduos com SAF com idade entre 6 a 17 anos, que receberam 13 sessões de tratamento com periodicidade de uma vez por semana em formato individual e duração de 45min cada sessão. As avaliações foram feitas pelas escalas IMTAP (Individualized Music Therapy Assessment Profile) e WISC-III (Escala Wechsler de Inteligência para Crianças) que mensuraram respostas de QI e habilidades cognitivas antes e depois das intervenções com musicoterapia. Os resultados foram mensurados por um avaliador cego, antes e depois das intervenções, através da pontuação das escalas WISC-III e IMTAP. A média calculada nos diferentes tempos do estudo para as crianças com SAF pela escala WISC-III antes do tratamento foi de 70.9 e desvio padrão 2.67 (IC 95% 65.65 a 76.15 p= 0.001) e média do IMTAP de 73.90 e desvio padrão de 1.90 (IC 95% 70.17 a 77.63 p=0.001) e no período após a intervenção a média da escala WISC-III foi de 78.60 e desvio padrão de 2.41 (IC 95% 74.40 a 82.80 p=0.001) e do IMTAP 85.70 e desvio padrão de 2.52 (IC 95% 80.75 a 90.65 p=0.001). Com relação às crianças com síndrome de Williams a média calculada pela escala WISC-III antes do tratamento foi de 52.2 e desvio padrão de 1.26 (IC 95% 49.72 a 54.68 p= 0.001) e média do IMTAP de 70.2 e desvio padrão de 0.77 (IC 95% 68.69 a 71.71 p= 0.001) e no período após a intervenção a média da escala WISC-III foi de 59 e desvio padrão de 1.6 (IC 95%55.86 a 62.14 p=0.001) e IMTAP 83.3 e desvio padrão de 1.68 (IC 95% 80.01 a 86.59 p=0.001). Com este estudo conseguimos verificar que as intervenções com musicoterapia apresentaram um efeito positivo para estas populações, mesmo com pouco tempo de tratamento, com relação ao desenvolvimento de habilidades cognitivas. Os resultados observados na investigação dos efeitos da musicoterapia aplicada ao desenvolvimento da memória não declarativa de crianças com síndrome de Williams e síndrome Alcoólica Fetal são inconclusivos. Sugere-se para as próximas investigações uma amostra maior, grupo controle e mais tempo de tratamento. Estas modificações poderão aumentar a precisão para observar os efeitos do tratamento nestas populações.

This study aimed to investigate the effects of music therapy treatment applied to the non declarative memory development in the Williams Syndrome (WS) and the Fetal Alcohol Syndrome children (FAS). A before and after experiment was conducted which included 10 WS individuals and another 10 individuals with FAS aged between 6 to 17, each received 13 treatment sessions, with weekly intervals, individually and 45min sessions. The evaluations were executed by the WISC III and the IMTAP scales measuring the IQ responses and the cognitive abilities before and after the music therapy interventions. A random evaluator…

Advisors/Committee Members: Faccini, Lavinia Schuler.

Subjects/Keywords: Musicoterapia; Music therapy; Child; Criança; Síndrome de Williams; Cognition; Cognição; Fetal alcohol syndrome; Williams syndrome

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Araujo, G. A. d. (2015). Os efeitos da musicoterapia na memória não declarativa de crianças com síndrome do alcool fetal e com síndrome de Williams. (Thesis). Universidade do Rio Grande do Sul. Retrieved from http://hdl.handle.net/10183/129689

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Araujo, Gustavo Andrade de. “Os efeitos da musicoterapia na memória não declarativa de crianças com síndrome do alcool fetal e com síndrome de Williams.” 2015. Thesis, Universidade do Rio Grande do Sul. Accessed March 03, 2021. http://hdl.handle.net/10183/129689.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Araujo, Gustavo Andrade de. “Os efeitos da musicoterapia na memória não declarativa de crianças com síndrome do alcool fetal e com síndrome de Williams.” 2015. Web. 03 Mar 2021.

Vancouver:

Araujo GAd. Os efeitos da musicoterapia na memória não declarativa de crianças com síndrome do alcool fetal e com síndrome de Williams. [Internet] [Thesis]. Universidade do Rio Grande do Sul; 2015. [cited 2021 Mar 03]. Available from: http://hdl.handle.net/10183/129689.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Araujo GAd. Os efeitos da musicoterapia na memória não declarativa de crianças com síndrome do alcool fetal e com síndrome de Williams. [Thesis]. Universidade do Rio Grande do Sul; 2015. Available from: http://hdl.handle.net/10183/129689

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

8. Pezzino, Anne-Sophie. Acquisition de la lecture chez les personnes porteuses du syndrome de Williams : Reading acquisition in people with Williams syndrome.

Degree: Docteur es, Psychologie, 2018, Rennes 2

URL: http://www.theses.fr/2018REN20033

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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… (more)

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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…

Advisors/Committee Members: Lacroix, Agnès (thesis director), Marec-Breton, Nathalie (thesis director).

Subjects/Keywords: Déficience intellectuelle; Syndrome de Williams; Remédiation; Intellectual Deficiency; Williams Syndrome; Remediation; 616.042

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APA (6^th Edition):

Pezzino, A. (2018). Acquisition de la lecture chez les personnes porteuses du syndrome de Williams : Reading acquisition in people with Williams syndrome. (Doctoral Dissertation). Rennes 2. Retrieved from http://www.theses.fr/2018REN20033

Chicago Manual of Style (16^th Edition):

Pezzino, Anne-Sophie. “Acquisition de la lecture chez les personnes porteuses du syndrome de Williams : Reading acquisition in people with Williams syndrome.” 2018. Doctoral Dissertation, Rennes 2. Accessed March 03, 2021. http://www.theses.fr/2018REN20033.

MLA Handbook (7^th Edition):

Pezzino, Anne-Sophie. “Acquisition de la lecture chez les personnes porteuses du syndrome de Williams : Reading acquisition in people with Williams syndrome.” 2018. Web. 03 Mar 2021.

Vancouver:

Pezzino A. Acquisition de la lecture chez les personnes porteuses du syndrome de Williams : Reading acquisition in people with Williams syndrome. [Internet] [Doctoral dissertation]. Rennes 2; 2018. [cited 2021 Mar 03]. Available from: http://www.theses.fr/2018REN20033.

Council of Science Editors:

Pezzino A. Acquisition de la lecture chez les personnes porteuses du syndrome de Williams : Reading acquisition in people with Williams syndrome. [Doctoral Dissertation]. Rennes 2; 2018. Available from: http://www.theses.fr/2018REN20033

University of Louisville

9. Huffman, Myra Jean Fallon. Speech articulation in children with Williams syndrome or 7q11.23 duplication syndrome.

Degree: PhD, 2019, University of Louisville

URL: 10.18297/etd/3242 ; https://ir.library.louisville.edu/etd/3242

► Williams syndrome (WS) and 7q11.23 duplication syndrome (Dup7) are associated with communication disorders (Huffman et al., 2013). However, articulatory accuracy has not been systematically… (more)

▼ Williams syndrome (WS) and 7q11.23 duplication syndrome (Dup7) are associated with communication disorders (Huffman et al., 2013). However, articulatory accuracy has not been systematically examined in these populations. The dissertation involved two studies. Using standardized citation assessment, Study 1 addressed articulatory accuracy with regard to age norms and differences between groups. Results indicated that for both groups, (a) consonant accuracy was significantly below expectations, (b) older children pronounced consonants with significantly better accuracy than younger children, (c) children with IQs at or above 70 earned significantly higher articulation standard scores, and (d) for particular groups of consonant sounds, arranged as a function of features of articulation, significant differences were found across consonant groups for (c.1) expected period of acquisition in development, (c.2) articulatory place of production, (c.3) articulatory manner of production, and (c.4) movement transition across consonants within clusters. Study 2 addressed variance relations among speech articulatory accuracy, phonological processing, and particular cognitive and linguistic measures. Articulatory accuracy was shown moderately, to strongly, related to each study variable. For the children with WS, articulatory accuracy contributed unique variance to phonological processing beyond that contributed by verbal short-term memory, spatial ability, and the combined factor of lexical understanding and use. Overall, the results showed children in both groups were significant delayed in consonantal development. Patterns of articulatory accuracy did not differ greatly from those of younger, typically developing children. Furthermore, the findings demonstrated positive relations among articulatory accuracy, phonological processing, intellectual abilities, and vocabulary abilities for children with these syndromes. Advisors/Committee Members: Mervis, Carolyn, Pani, John R., Pani, John R., Cashon, Cara H., Smith, Alan, Velleman, Shelley.

Subjects/Keywords: articulation; Williams syndrome; 7q11.23 duplication syndrome; phonological; articulatory pattern; Disability Studies

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APA (6^th Edition):

Huffman, M. J. F. (2019). Speech articulation in children with Williams syndrome or 7q11.23 duplication syndrome. (Doctoral Dissertation). University of Louisville. Retrieved from 10.18297/etd/3242 ; https://ir.library.louisville.edu/etd/3242

Chicago Manual of Style (16^th Edition):

Huffman, Myra Jean Fallon. “Speech articulation in children with Williams syndrome or 7q11.23 duplication syndrome.” 2019. Doctoral Dissertation, University of Louisville. Accessed March 03, 2021. 10.18297/etd/3242 ; https://ir.library.louisville.edu/etd/3242.

MLA Handbook (7^th Edition):

Huffman, Myra Jean Fallon. “Speech articulation in children with Williams syndrome or 7q11.23 duplication syndrome.” 2019. Web. 03 Mar 2021.

Vancouver:

Huffman MJF. Speech articulation in children with Williams syndrome or 7q11.23 duplication syndrome. [Internet] [Doctoral dissertation]. University of Louisville; 2019. [cited 2021 Mar 03]. Available from: 10.18297/etd/3242 ; https://ir.library.louisville.edu/etd/3242.

Council of Science Editors:

Huffman MJF. Speech articulation in children with Williams syndrome or 7q11.23 duplication syndrome. [Doctoral Dissertation]. University of Louisville; 2019. Available from: 10.18297/etd/3242 ; https://ir.library.louisville.edu/etd/3242

University of Vermont

10. Freeman, Kara E. Narrative Language and the Use of Story Grammar and Evaluative Language in Children with Williams Syndrome and 7q11.23 Duplication Syndrome.

Degree: Communication Sciences and Disorders, 2015, University of Vermont

URL: https://scholarworks.uvm.edu/hcoltheses/52

► 7q11.23 Duplication syndrome (Dup7) is a neurodevelopmental disorder caused by a duplication of the same set of genes that are typically deleted in individuals… (more)

▼ 7q11.23 Duplication syndrome (Dup7) is a neurodevelopmental disorder caused by a duplication of the same set of genes that are typically deleted in individuals with Williams syndrome. As a result of this genetic difference, Williams syndrome and Dup7 tend to present differently in individuals, particularly in terms of cognitive characteristics, social behaviors, and language development. The purpose of this study was to gain a better understanding of these differences and their possible clinical implications by comparing narrative language samples from children with Dup7 to those from children with Williams syndrome. Video recordings of 45 children, ages seven to thirteen, telling a narrative using the wordless picture book, Frog, Where are You?, were used for the purposes of this project. Fifteen children with a Dup7 diagnosis were matched with one set of 15 children with Williams syndrome by expressive vocabulary level, and another set of 15 children with Williams syndrome by chronological age. Participant narratives were compared on the basis of several narrative measures including: (1) story length, (2) frequency of morphological (word grammar) errors, (3) elements, (4) the establishment and comprehension of the search theme, and (5) the use of evaluative language. The differences observed between the Dup7 and Williams syndrome narratives reflect the unique cognitive and social profiles typical of each disorder. Participants with Dup7 showed relative strengths in measures related to cognitive functioning, including maturity of story grammar, comprehension of search theme, and frequency of cognitive inferences made. Participants with Williams syndrome showed relative strengths in their use of evaluative language, particularly social engagement devices. Overall, the differences observed between Dup7 and Williams syndrome groups, as well as among participants within each group, speak to the importance of viewing each child as an individual with unique strengths and challenges. Advisors/Committee Members: Dr. Shelley Velleman.

Subjects/Keywords: Williams Syndrome; 7q11.23 Duplication Syndrome; narrative language; story grammar; evaluative language

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APA (6^th Edition):

Freeman, K. E. (2015). Narrative Language and the Use of Story Grammar and Evaluative Language in Children with Williams Syndrome and 7q11.23 Duplication Syndrome. (Thesis). University of Vermont. Retrieved from https://scholarworks.uvm.edu/hcoltheses/52

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Freeman, Kara E. “Narrative Language and the Use of Story Grammar and Evaluative Language in Children with Williams Syndrome and 7q11.23 Duplication Syndrome.” 2015. Thesis, University of Vermont. Accessed March 03, 2021. https://scholarworks.uvm.edu/hcoltheses/52.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Freeman, Kara E. “Narrative Language and the Use of Story Grammar and Evaluative Language in Children with Williams Syndrome and 7q11.23 Duplication Syndrome.” 2015. Web. 03 Mar 2021.

Vancouver:

Freeman KE. Narrative Language and the Use of Story Grammar and Evaluative Language in Children with Williams Syndrome and 7q11.23 Duplication Syndrome. [Internet] [Thesis]. University of Vermont; 2015. [cited 2021 Mar 03]. Available from: https://scholarworks.uvm.edu/hcoltheses/52.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Freeman KE. Narrative Language and the Use of Story Grammar and Evaluative Language in Children with Williams Syndrome and 7q11.23 Duplication Syndrome. [Thesis]. University of Vermont; 2015. Available from: https://scholarworks.uvm.edu/hcoltheses/52

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

11. Amaral, Vera Alice Alcantara dos Santos. O estresse em crianças e adolescentes com síndrome de Williams-Beuren no contexto escolar.

Degree: Mestrado, Pediatria, 2012, University of São Paulo

URL: http://www.teses.usp.br/teses/disponiveis/5/5141/tde-26102012-100552/ ;

► 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,… (more)

▼ 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… Advisors/Committee Members: Kim, Chong Ae.

Subjects/Keywords: Adolescent; Adolescente; Child; Criança; Escola; Estresse; School; Síndrome de Williams; Stress; Williams syndrome

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APA (6^th Edition):

Amaral, V. A. A. d. S. (2012). O estresse em crianças e adolescentes com síndrome de Williams-Beuren no contexto escolar. (Masters Thesis). University of São Paulo. Retrieved from http://www.teses.usp.br/teses/disponiveis/5/5141/tde-26102012-100552/ ;

Chicago Manual of Style (16^th Edition):

Amaral, Vera Alice Alcantara dos Santos. “O estresse em crianças e adolescentes com síndrome de Williams-Beuren no contexto escolar.” 2012. Masters Thesis, University of São Paulo. Accessed March 03, 2021. http://www.teses.usp.br/teses/disponiveis/5/5141/tde-26102012-100552/ ;.

MLA Handbook (7^th Edition):

Amaral, Vera Alice Alcantara dos Santos. “O estresse em crianças e adolescentes com síndrome de Williams-Beuren no contexto escolar.” 2012. Web. 03 Mar 2021.

Vancouver:

Amaral VAAdS. O estresse em crianças e adolescentes com síndrome de Williams-Beuren no contexto escolar. [Internet] [Masters thesis]. University of São Paulo; 2012. [cited 2021 Mar 03]. Available from: http://www.teses.usp.br/teses/disponiveis/5/5141/tde-26102012-100552/ ;.

Council of Science Editors:

Amaral VAAdS. O estresse em crianças e adolescentes com síndrome de Williams-Beuren no contexto escolar. [Masters Thesis]. University of São Paulo; 2012. Available from: http://www.teses.usp.br/teses/disponiveis/5/5141/tde-26102012-100552/ ;

Universidade Presbiteriana Mackenzie

12. Ana Claudia Braga. Perfil neuropsicológico e comportamental, indicadores de desenvolvimento e funcionamento adaptativo de crianças com síndrome de Williams em idade pré-escolar.

Degree: 2013, Universidade Presbiteriana Mackenzie

URL: http://tede.mackenzie.com.br//tde_busca/arquivo.php?codArquivo=2943

► A Síndrome de Williams (SW) é uma doença multissistêmica e neurocomportamental de causa genética cuja etiologia está associada a microdeleções que ocorrem na região cromossômica… (more)

▼ A Síndrome de Williams (SW) é uma doença multissistêmica e neurocomportamental de causa genética cuja etiologia está associada a microdeleções que ocorrem na região cromossômica 7q11.23. Estudos apontam alterações fenotípicas clínicas, cognitivas, de linguagem e de comportamento na SW as quais devem ser investigadas precocemente para tratar e/ou prevenir problemas de saúde física e mental. Além disso, o planejamento de intervenções nos primeiros 6 anos de vida facilitam o desenvolvimento de habilidades cognitivas e de repertórios comportamentais ajustados às futuras demandas escolares. O objetivo geral do presente estudo foi verificar indicadores de desenvolvimento cognitivo, habilidades de linguagem receptiva e padrões comportamentais-adaptativos em crianças com SW em idade pré-escolar. A amostra do estudo foi composta por 8 crianças com diagnóstico clínico e molecular positivo para a SW com idade entre 4 e 6 anos de ambos os sexos. Os instrumentos de coleta de dados foram: - Teste de Desenvolvimento Denver II; - Escala de Maturidade Mental COLÚMBIA; - Teste de Stroop Semântico; - Teste de Vocabulário por Imagem Peabody (TVIP); - Escalas de comportamento adaptativo de Vineland; - Inventário de comportamentos para crianças entre 1 e 5 anos (CBCL/1-5) e Inventário de comportamentos para crianças entre 6 e 18 anos (CBCL/6-18); - Versão Brasileira do Inventário de Problemas Comportamentais Behavior Problems Inventory/BPI-01. Os principais resultados obtidos apontaram para atrasos de desenvolvimento e de maturidade mental em todos os participantes. Os maiores prejuízos de desenvolvimento verificaram-se na coordenação motora fina e nas habilidades de cuidados pessoais. Já as habilidades de linguagem receptiva e de comunicação mostraram menores déficits de acordo com os testes TVIP e Denver II, respectivamente. No TVIP cinco crianças não apresentaram defasagem entre a idade cronológica e a idade mental estimada para essas habilidades. Os participantes, conforme relato dos cuidadores responsáveis apresentam problemas de comportamento e dificuldades emocionais que se enquadram principalmente no espectro das estereotipias comportamentais, problemas internalizantes de comportamento (ansiedade e depressão) e problemas de atenção. Indicadores de habilidades de controle inibitório verificadas no teste Stroop Semântico evidenciaram que na prova de interferência os participantes obtiveram escores reduzidos mostrando prejuízos neste indicador de funções executivas. Os resultados são pioneiros no Brasil em relação à avaliação comportamental e neuropsicológica de crianças pré-escolares com SW. Os resultados em relação a habilidades cognitivas e comportamentais foram semelhantes a outros estudos conduzidos com grupos de crianças com SW em idade escolar. Pelos resultados obtidos no grupo há evidências que apontam para esses prejuízos desde cinco e seis anos. Nas análises de correlação mediante uso do coeficiente de Spearman, foram observadas correlações positivas e negativas entre os instrumentos utilizados considerando p<0,05. Os dados… Advisors/Committee Members: Alessandra Gotuzo Seabra Capovilla, Maria Cristina Triguero Veloz Teixeira, Rachel Sayuri Honjo.

Subjects/Keywords: PSICOLOGIA; síndrome de Williams; criança, pré-escolar; desenvolvimento; comportamento; Williams syndrome; children; preschool; development; behavior

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APA (6^th Edition):

Braga, A. C. (2013). Perfil neuropsicológico e comportamental, indicadores de desenvolvimento e funcionamento adaptativo de crianças com síndrome de Williams em idade pré-escolar. (Thesis). Universidade Presbiteriana Mackenzie. Retrieved from http://tede.mackenzie.com.br//tde_busca/arquivo.php?codArquivo=2943

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Braga, Ana Claudia. “Perfil neuropsicológico e comportamental, indicadores de desenvolvimento e funcionamento adaptativo de crianças com síndrome de Williams em idade pré-escolar.” 2013. Thesis, Universidade Presbiteriana Mackenzie. Accessed March 03, 2021. http://tede.mackenzie.com.br//tde_busca/arquivo.php?codArquivo=2943.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Braga, Ana Claudia. “Perfil neuropsicológico e comportamental, indicadores de desenvolvimento e funcionamento adaptativo de crianças com síndrome de Williams em idade pré-escolar.” 2013. Web. 03 Mar 2021.

Vancouver:

Braga AC. Perfil neuropsicológico e comportamental, indicadores de desenvolvimento e funcionamento adaptativo de crianças com síndrome de Williams em idade pré-escolar. [Internet] [Thesis]. Universidade Presbiteriana Mackenzie; 2013. [cited 2021 Mar 03]. Available from: http://tede.mackenzie.com.br//tde_busca/arquivo.php?codArquivo=2943.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Braga AC. Perfil neuropsicológico e comportamental, indicadores de desenvolvimento e funcionamento adaptativo de crianças com síndrome de Williams em idade pré-escolar. [Thesis]. Universidade Presbiteriana Mackenzie; 2013. Available from: http://tede.mackenzie.com.br//tde_busca/arquivo.php?codArquivo=2943

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

13. Damasceno, Marcelo Loquette. Prevalência de escoliose em pacientes com síndrome de Williams-Beuren.

Degree: Mestrado, Ortopedia e Traumatologia, 2013, University of São Paulo

URL: http://www.teses.usp.br/teses/disponiveis/5/5140/tde-14082013-154720/ ;

►

Introdução: A síndrome de Williams-Beuren (SWB) consiste de uma deleção no cromossomo 7q11.23, região responsável pela codificação de 28 genes, estando o gene codificador da… (more)

▼

Introdução: A síndrome de Williams-Beuren (SWB) consiste de uma deleção no cromossomo 7q11.23, região responsável pela codificação de 28 genes, estando o gene codificador da elastina situado aproximadamente no ponto médio dos extremos da deleção; a mutação no gene da elastina leva a alterações fenotípicas no paciente, com prejuízo do desenvolvimento neuropsicomotor de graus variados, fáscies características, anormalidades cardiovasculares, hipercalcemia, disfunções urológicas e osteoarticulares. O presente estudo avaliou a prevalência de escoliose em pacientes com diagnóstico de SWB, bem como sua relação com o padrão das curvas nos portadores de escoliose. Métodos: Foram incluídos 41 pacientes com diagnóstico de SWB através da realização de anamnese, exame físico e investigação radiográfica, sendo 25 do sexo masculino. Realizou-se a interpretação das radiografias e obtenção do ângulo de Cobb. Resultados: Observou-se que 14 pacientes eram portadores de escoliose, sendo 10 do sexo masculino. O padrão da deformidade apresentou-se, nos pacientes mais jovens, através de curvas simples e flexíveis, e, apesar de adultos apresentarem ocorrência de duplas curvas e triplas curvas, a análise estatística não evidenciou relação entre escoliose e idade ou sexo dos pacientes. Conclusões: O estudo evidenciou prevalência de escoliose em portadores de SWB: 34,1%; entretanto, as variáveis idade e sexo não apresentaram relação com a ocorrência de escoliose, assim como a gravidade das curvas apresentadas

Introduction: Williams-Beuren syndrome (WBS) consists of a chromosome 7q11.23 deletion in the region responsible for encoding 28 genes, with the elastin encoding gene situated approximately at the midpoint of the extremes of deletion; mutation of the elastin gene leads to phenotypic changes in patients with neurodevelopment impairment of varying degrees, characteristic facies, cardiovascular abnormalities, hypercalcemia, and urological and bone and joint dysfunctions. This study assessed the prevalence of scoliosis in patients with WBS, and the relationship with the pattern of scoliotic curves. Methods: A total of 41 patients diagnosed with SWB were included in the study, 25 males, through anamnesis, physical examination and radiographic investigation. Radiographic imaging was interpreted and the Cobb angle was calculated. Results: It was observed that 14 patients had scoliosis, and 10 of them were male. The pattern of the deformity in younger patients was of flexible and simple curves, and although adults presented double and triple curves, statistical analysis showed no relationship between scoliosis and age or sex. Conclusion: The study revealed a prevalence of scoliosis in patients with SWB of 34.1%; however, the variables age and sex had were not significantly associated with scoliosis, nor with the severity of the curves

Advisors/Committee Members: Cristante, Alexandre Fogaça.

Subjects/Keywords: Deficiência intelectual; Elastin/genetics; Elastina/genética; Escoliose/epidemiologia; Escoliose/radiografia; Intellectual disability; Prevalence; Prevalência; Scoliosis/epidemiology; Scoliosis/radiography; Síndrome de Williams/diagnóstico; Síndrome de Williams/epidemiologia; Síndrome de Williams/radiografia; Williams syndrome/radiographys; Williams syndrome/diagnosis; Williams syndrome/epidemiology

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Damasceno, M. L. (2013). Prevalência de escoliose em pacientes com síndrome de Williams-Beuren. (Masters Thesis). University of São Paulo. Retrieved from http://www.teses.usp.br/teses/disponiveis/5/5140/tde-14082013-154720/ ;

Chicago Manual of Style (16^th Edition):

Damasceno, Marcelo Loquette. “Prevalência de escoliose em pacientes com síndrome de Williams-Beuren.” 2013. Masters Thesis, University of São Paulo. Accessed March 03, 2021. http://www.teses.usp.br/teses/disponiveis/5/5140/tde-14082013-154720/ ;.

MLA Handbook (7^th Edition):

Damasceno, Marcelo Loquette. “Prevalência de escoliose em pacientes com síndrome de Williams-Beuren.” 2013. Web. 03 Mar 2021.

Vancouver:

Damasceno ML. Prevalência de escoliose em pacientes com síndrome de Williams-Beuren. [Internet] [Masters thesis]. University of São Paulo; 2013. [cited 2021 Mar 03]. Available from: http://www.teses.usp.br/teses/disponiveis/5/5140/tde-14082013-154720/ ;.

Council of Science Editors:

Damasceno ML. Prevalência de escoliose em pacientes com síndrome de Williams-Beuren. [Masters Thesis]. University of São Paulo; 2013. Available from: http://www.teses.usp.br/teses/disponiveis/5/5140/tde-14082013-154720/ ;

University of Toronto

14. Nesarajah, Yasika. Cerebellar Characterization in Mouse Models of 7q11.23 Copy Number Variation Disorders.

Degree: 2018, University of Toronto

URL: http://hdl.handle.net/1807/91489

►

Williams-Beuren Syndrome (WS) and 7q11.23 Duplication Syndrome (Dup7) are neurodevelopmental disorders caused by the deletion and duplication of ~26 genes in region 7q11.23 on chromosome… (more)

Subjects/Keywords: 7q11.23 Duplication Syndrome; Cerebellum; GTF2I; GTF2IRD1; Purkinje Cell; Williams-Beuren Syndrome; 0317

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APA (6^th Edition):

Nesarajah, Y. (2018). Cerebellar Characterization in Mouse Models of 7q11.23 Copy Number Variation Disorders. (Masters Thesis). University of Toronto. Retrieved from http://hdl.handle.net/1807/91489

Chicago Manual of Style (16^th Edition):

Nesarajah, Yasika. “Cerebellar Characterization in Mouse Models of 7q11.23 Copy Number Variation Disorders.” 2018. Masters Thesis, University of Toronto. Accessed March 03, 2021. http://hdl.handle.net/1807/91489.

MLA Handbook (7^th Edition):

Nesarajah, Yasika. “Cerebellar Characterization in Mouse Models of 7q11.23 Copy Number Variation Disorders.” 2018. Web. 03 Mar 2021.

Vancouver:

Nesarajah Y. Cerebellar Characterization in Mouse Models of 7q11.23 Copy Number Variation Disorders. [Internet] [Masters thesis]. University of Toronto; 2018. [cited 2021 Mar 03]. Available from: http://hdl.handle.net/1807/91489.

Council of Science Editors:

Nesarajah Y. Cerebellar Characterization in Mouse Models of 7q11.23 Copy Number Variation Disorders. [Masters Thesis]. University of Toronto; 2018. Available from: http://hdl.handle.net/1807/91489

University of Oxford

15. Steele, Ann M. Tracing syndrome-specific trajectories of cognitive development : the impact of attention profiles on precursors of literacy and numeracy.

Degree: PhD, 2011, University of Oxford

URL: http://ora.ox.ac.uk/objects/uuid:5d2e5704-b7f9-4ecb-b073-3616a45c2890 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.555304

► 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… (more)

Subjects/Keywords: 155.413; Cognitive development; Attention; Developmental psychology; attention; literacy; numeracy; Down syndrome; Williams syndrome; longitudinal

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APA (6^th Edition):

Steele, A. M. (2011). Tracing syndrome-specific trajectories of cognitive development : the impact of attention profiles on precursors of literacy and numeracy. (Doctoral Dissertation). University of Oxford. Retrieved from http://ora.ox.ac.uk/objects/uuid:5d2e5704-b7f9-4ecb-b073-3616a45c2890 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.555304

Chicago Manual of Style (16^th Edition):

Steele, Ann M. “Tracing syndrome-specific trajectories of cognitive development : the impact of attention profiles on precursors of literacy and numeracy.” 2011. Doctoral Dissertation, University of Oxford. Accessed March 03, 2021. http://ora.ox.ac.uk/objects/uuid:5d2e5704-b7f9-4ecb-b073-3616a45c2890 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.555304.

MLA Handbook (7^th Edition):

Steele, Ann M. “Tracing syndrome-specific trajectories of cognitive development : the impact of attention profiles on precursors of literacy and numeracy.” 2011. Web. 03 Mar 2021.

Vancouver:

Steele AM. Tracing syndrome-specific trajectories of cognitive development : the impact of attention profiles on precursors of literacy and numeracy. [Internet] [Doctoral dissertation]. University of Oxford; 2011. [cited 2021 Mar 03]. Available from: http://ora.ox.ac.uk/objects/uuid:5d2e5704-b7f9-4ecb-b073-3616a45c2890 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.555304.

Council of Science Editors:

Steele AM. Tracing syndrome-specific trajectories of cognitive development : the impact of attention profiles on precursors of literacy and numeracy. [Doctoral Dissertation]. University of Oxford; 2011. Available from: http://ora.ox.ac.uk/objects/uuid:5d2e5704-b7f9-4ecb-b073-3616a45c2890 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.555304

Macquarie University

16. Shaw, Tracey Anne. Socio-emotional processing in Fragile X Syndrome.

Degree: 2012, Macquarie University

URL: http://hdl.handle.net/1959.14/290497

►

Thesis by publication.

"This thesis is submitted in partial fulfilment of the requirements for the combined degree of Doctor of Philosophy / Master of Clinical… (more)

▼

Thesis by publication.

"This thesis is submitted in partial fulfilment of the requirements for the combined degree of Doctor of Philosophy / Master of Clinical Neuropsychology April 2012"

1. General introduction – 2. Thesis overview – 3. Viewing social scenes: a visual scan-path study comparing Fragile X Syndrome and Williams Syndrome – 4. Emotion recognition and visual-scan paths in Fragile X Syndrome – 5. Hyperarousal in Fragile X Syndrome females: generalised or social-specific? A skin conductance study – 6. Emotion recognition and social approach in Fragile X Syndrome – 7. General discussion.

Fragile X syndrome (FXS) is a neurodevelopmental disorder, which is characterised by significant social impairments including: social anxiety and withdrawal, gaze aversion, reduced interaction with peers, as well as schizotypal personality and autistic features. The overarching aim of this thesis was to investigate the socio-emotional processing skills of individuals with FXS. More specifically, through a series of studies, this thesis aimed to provide a more detailed investigation of the cognitive, behavioural and psychophysiological aspects of socio-emotional processing in FXS individuals. Using a broad cross-syndrome approach, Paper One compared the visual attentional functions that underpin how individuals with FXS process social information, to those with Williams syndrome (WS). Results revealed interesting dissociations between these two disorders, as well as between these clinical populations and chronological age (CA-) matched and mental age (MA-) matched controls. Papers Two and Three explored the explicit emotion recognition abilities of FXS individuals, while also investigating different aspects of implicit emotion recognition. In more detail, Paper Two explored how FXS individuals visually scanned emotional facial expressions, while Paper Three investigated whether autonomic hyperarousal was generalised or social-specific in a group of FXS females. Both papers revealed significant explicit emotion recognition difficulties in the FXS individuals compared to both CA- and MA-matched controls; however, the FXS individuals' visual scanning and autonomic arousal levels were similar to those of the MA-matched controls. Paper Four, the final empirical paper of this thesis, focused on higher-order socio-emotional evaluative processing, namely, whether FXS individuals display abnormal social approach judgements. Results revealed that when emotion recognition deficits were taken into consideration, the FXS individuals continued to display abnormal social judgements, consistent with the behavioural social aversion that is characteristic of FXS; and seen more generally in social anxiety. The current thesis contributed to the literature on socio-emotional processing skills in FXS by providing empirical evidence of explicit emotion recognition deficits, which in the past has been refuted. Importantly, it was determined that the observed emotion recognition deficits within the FXS group were apparent…

Advisors/Committee Members: Macquarie University. Department of Cognitive Science, Macquarie University. Department of Psychology.

Subjects/Keywords: Fragile X syndrome; Developmental disabilities; Williams syndrome; FXS; neurodevelopmental disorder; chronological age; matched controls

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APA (6^th Edition):

Shaw, T. A. (2012). Socio-emotional processing in Fragile X Syndrome. (Thesis). Macquarie University. Retrieved from http://hdl.handle.net/1959.14/290497

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Shaw, Tracey Anne. “Socio-emotional processing in Fragile X Syndrome.” 2012. Thesis, Macquarie University. Accessed March 03, 2021. http://hdl.handle.net/1959.14/290497.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Shaw, Tracey Anne. “Socio-emotional processing in Fragile X Syndrome.” 2012. Web. 03 Mar 2021.

Vancouver:

Shaw TA. Socio-emotional processing in Fragile X Syndrome. [Internet] [Thesis]. Macquarie University; 2012. [cited 2021 Mar 03]. Available from: http://hdl.handle.net/1959.14/290497.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Shaw TA. Socio-emotional processing in Fragile X Syndrome. [Thesis]. Macquarie University; 2012. Available from: http://hdl.handle.net/1959.14/290497

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Colorado State University

17. Hahn, Laura J. Understanding of intentionality in children with Williams syndrome and Down syndrome, The.

Degree: PhD, Education, 2012, Colorado State University

URL: http://hdl.handle.net/10217/68172

► This dissertation examined the development of the understanding of intentionality in two different neurogenetic disorders, Williams syndrome (WS) and Down syndrome (DS). The study of… (more)

▼ This dissertation examined the development of the understanding of intentionality in two different neurogenetic disorders, Williams syndrome (WS) and Down syndrome (DS). The study of intentionality focuses on how children come to understand the intentions of others. Meltzoff's (1995) behavioral reenactment paradigm is a nonverbal procedure wherein a child is presented with a series of objects. Prior to each presentation, the examiner either performs a successful action (e.g. the target action) or an unsuccessful action (e.g. the failed intentional action). A child's understanding of intentionality is assessed by their ability to interpret the experimenter's intention during failed attempt trials, and their subsequent completion of the task. This examination of intentionality was divided into two studies. Study 1 was designed to test Tager-Flusberg and Sullivan's (2000) hypothesis that there is a dissociation between social-perceptual abilities and social-cognitive abilities in individuals with Williams syndrome. In order to explore this dissociation, the behavioral reenactment procedure was administered with and without experimenter affective cues. Participants were 25 children with a confirmed diagnosis of WS. There were two groups of WS, one that received affective cues (N=13) and one that did not (N=12). Also, children with WS in the no affect group were compared to 12 mental-age matched children with developmental disabilities. The findings of this study indicates that the understanding of intentionality improves with developmental status in children with WS. Also, this study indicates that there may be a dissociation between social-perceptual and social-cognitive skills in this population during early social-emotional development. Specifically, it seems that the presence of emotional cues during intersubjective tasks leads to an emotional response instead of a response based on social cognition. Study 2 was motivated by past research suggesting that children with DS demonstrate deficits in some aspects of social cognition, even though many children with DS have strengths in other aspects of social-emotional functioning. Therefore, it is likely that the understanding of intentionality in children with Down syndrome may be influenced by other foundational cognitive abilities (i.e. joint attention and affect sharing in early childhood and executive functioning in middle childhood). Participants were 40 children with a confirmed diagnosis of Down syndrome, 16 young children with DS and 24 older children with DS. In addition, the 16 young children with DS were compared to 16 mental-age matched children with other developmental disabilities. The results of this study suggests that the understanding of intentionality improves with developmental status for young children with DS. This study also suggest that difficulties in joint attention and EF lead children with DS to miss the target relevant information during the behavioral reenactment procedure leading them to perform more "other actions". This… Advisors/Committee Members: Most, David (advisor), Fidler, Deborah (advisor), Balgopal, Meena (committee member), Lunkenheimer, Erika (committee member).

Subjects/Keywords: developmental disabilities; intentionality; social cognition; theory of mind; Down syndrome; Williams syndrome

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APA (6^th Edition):

Hahn, L. J. (2012). Understanding of intentionality in children with Williams syndrome and Down syndrome, The. (Doctoral Dissertation). Colorado State University. Retrieved from http://hdl.handle.net/10217/68172

Chicago Manual of Style (16^th Edition):

Hahn, Laura J. “Understanding of intentionality in children with Williams syndrome and Down syndrome, The.” 2012. Doctoral Dissertation, Colorado State University. Accessed March 03, 2021. http://hdl.handle.net/10217/68172.

MLA Handbook (7^th Edition):

Hahn, Laura J. “Understanding of intentionality in children with Williams syndrome and Down syndrome, The.” 2012. Web. 03 Mar 2021.

Vancouver:

Hahn LJ. Understanding of intentionality in children with Williams syndrome and Down syndrome, The. [Internet] [Doctoral dissertation]. Colorado State University; 2012. [cited 2021 Mar 03]. Available from: http://hdl.handle.net/10217/68172.

Council of Science Editors:

Hahn LJ. Understanding of intentionality in children with Williams syndrome and Down syndrome, The. [Doctoral Dissertation]. Colorado State University; 2012. Available from: http://hdl.handle.net/10217/68172

Vanderbilt University

18. Lense, Miriam Diane. (A)musicality in Williams syndrome: Examining relationships among auditory perception, musical skill, and emotional responsiveness to music.

Degree: PhD, Psychology, 2013, Vanderbilt University

URL: http://hdl.handle.net/1803/12243

► Williams syndrome (WS) is a genetic, neurodevelopmental disorder that has been of interest to music cognition researchers because of its characteristic auditory sensitivities and emotional… (more)

Subjects/Keywords: pitch perception; amusia; music; Williams syndrome; auditory sensitivity

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APA (6^th Edition):

Lense, M. D. (2013). (A)musicality in Williams syndrome: Examining relationships among auditory perception, musical skill, and emotional responsiveness to music. (Doctoral Dissertation). Vanderbilt University. Retrieved from http://hdl.handle.net/1803/12243

Chicago Manual of Style (16^th Edition):

Lense, Miriam Diane. “(A)musicality in Williams syndrome: Examining relationships among auditory perception, musical skill, and emotional responsiveness to music.” 2013. Doctoral Dissertation, Vanderbilt University. Accessed March 03, 2021. http://hdl.handle.net/1803/12243.

MLA Handbook (7^th Edition):

Lense, Miriam Diane. “(A)musicality in Williams syndrome: Examining relationships among auditory perception, musical skill, and emotional responsiveness to music.” 2013. Web. 03 Mar 2021.

Vancouver:

Lense MD. (A)musicality in Williams syndrome: Examining relationships among auditory perception, musical skill, and emotional responsiveness to music. [Internet] [Doctoral dissertation]. Vanderbilt University; 2013. [cited 2021 Mar 03]. Available from: http://hdl.handle.net/1803/12243.

Council of Science Editors:

Lense MD. (A)musicality in Williams syndrome: Examining relationships among auditory perception, musical skill, and emotional responsiveness to music. [Doctoral Dissertation]. Vanderbilt University; 2013. Available from: http://hdl.handle.net/1803/12243

Vanderbilt University

19. Han, Zhaoying. Effect of non-rigid registration algorithms on the analysis of brain MR images with deformation based morphometry.

Degree: PhD, Electrical Engineering, 2011, Vanderbilt University

URL: http://hdl.handle.net/1803/14218

► Deformation Based Morphometry (DBM) is a widely used method for characterizing anatomical differences across populations. DBM is based on the analysis of the deformation fields… (more)

▼ Deformation Based Morphometry (DBM) is a widely used method for characterizing anatomical differences across populations. DBM is based on the analysis of the deformation fields generated by non-rigid registration algorithms that warp the individual volumes to a DBM atlas. Although several studies have compared non-rigid registration algorithms for segmentation tasks, few studies have compared the effect of the registration algorithms on group differences that may be uncovered through DBM. The overarching goal of this dissertation is to assess qualitatively and quantitatively the extent to which DBM results are a function of the registration algorithms used to compute the deformation fields. Five well-established non-rigid registration algorithms are compared and tested on two different real data sets and a series of simulated datasets. The first real data set has large and well-documented anatomical differences between normal subjects and subjects with the Williams Syndrome. The second real data set contains MR images of third-grade children with different levels of mathematical abilities. Anatomical differences in this data set are more subtle. Because the lack of ground truth makes it difficult to compare algorithms, a series of simulated MR images with various known anatomical differences are produced. DBM results obtained with the five registration algorithms are compared with the introduced ground truth both qualitatively and quantitatively. The main conclusions that can be drawn from this work are that (1) DBM-based findings are indeed dependent on the registration algorithm that is used and (2) the Family Wise Error (FWE) statistical scheme that is commonly used for multiple comparison correction may be over-conservative. When performing DBM analysis, our suggestions would be to use more than one algorithm and to look for regions that are consistently labeled as statistically significant across these algorithms. We are also the first to report that brain anatomy may correlate with the level of mathematical performances in a relatively large population of third graders. Advisors/Committee Members: John C. Gore (committee member), J. Michael Fitzpatrick (committee member), Adam W. Anderson (committee member), Zhaohua Ding (committee member), Bennett A. Landman (committee member), Benoit M Dawant (Committee Chair).

Subjects/Keywords: nonrigid registration; brain atlas; deformation based morphometry; Williams Syndrome

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APA (6^th Edition):

Han, Z. (2011). Effect of non-rigid registration algorithms on the analysis of brain MR images with deformation based morphometry. (Doctoral Dissertation). Vanderbilt University. Retrieved from http://hdl.handle.net/1803/14218

Chicago Manual of Style (16^th Edition):

Han, Zhaoying. “Effect of non-rigid registration algorithms on the analysis of brain MR images with deformation based morphometry.” 2011. Doctoral Dissertation, Vanderbilt University. Accessed March 03, 2021. http://hdl.handle.net/1803/14218.

MLA Handbook (7^th Edition):

Han, Zhaoying. “Effect of non-rigid registration algorithms on the analysis of brain MR images with deformation based morphometry.” 2011. Web. 03 Mar 2021.

Vancouver:

Han Z. Effect of non-rigid registration algorithms on the analysis of brain MR images with deformation based morphometry. [Internet] [Doctoral dissertation]. Vanderbilt University; 2011. [cited 2021 Mar 03]. Available from: http://hdl.handle.net/1803/14218.

Council of Science Editors:

Han Z. Effect of non-rigid registration algorithms on the analysis of brain MR images with deformation based morphometry. [Doctoral Dissertation]. Vanderbilt University; 2011. Available from: http://hdl.handle.net/1803/14218

University of California – San Diego

20. Greiner, Demi Maria Zabala. Parvalbumin-positive inhibitory interneuron density in the amygdala in Williams syndrome.

Degree: Biology, 2019, University of California – San Diego

URL: http://www.escholarship.org/uc/item/32k5978h

► Williams syndrome (WS) is a rare neurodevelopmental disorder caused by a microdeletion in chromosomal region 7q11.23 affecting approximately 25-28 genes. Individuals with this disorder display… (more)

Subjects/Keywords: Neurosciences; Biology; Amygdala; GABAergic; Interneurons; Parvalbumin; Post mortem; Williams syndrome

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APA (6^th Edition):

Greiner, D. M. Z. (2019). Parvalbumin-positive inhibitory interneuron density in the amygdala in Williams syndrome. (Thesis). University of California – San Diego. Retrieved from http://www.escholarship.org/uc/item/32k5978h

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Greiner, Demi Maria Zabala. “Parvalbumin-positive inhibitory interneuron density in the amygdala in Williams syndrome.” 2019. Thesis, University of California – San Diego. Accessed March 03, 2021. http://www.escholarship.org/uc/item/32k5978h.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Greiner, Demi Maria Zabala. “Parvalbumin-positive inhibitory interneuron density in the amygdala in Williams syndrome.” 2019. Web. 03 Mar 2021.

Vancouver:

Greiner DMZ. Parvalbumin-positive inhibitory interneuron density in the amygdala in Williams syndrome. [Internet] [Thesis]. University of California – San Diego; 2019. [cited 2021 Mar 03]. Available from: http://www.escholarship.org/uc/item/32k5978h.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Greiner DMZ. Parvalbumin-positive inhibitory interneuron density in the amygdala in Williams syndrome. [Thesis]. University of California – San Diego; 2019. Available from: http://www.escholarship.org/uc/item/32k5978h

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Vermont

21. Garber, Claudia G. Early Phonological Systematization in Children with Williams Syndrome: A Longitudinal Study.

Degree: Linguistics, 2018, University of Vermont

URL: https://scholarworks.uvm.edu/hcoltheses/269

► This longitudinal study looks at the systematic phonological development of children with Williams syndrome during the first three years of life. Williams syndrome is… (more)

Subjects/Keywords: Williams syndrome; phonological systematization; templates; language acquisition; reorganization

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APA (6^th Edition):

Garber, C. G. (2018). Early Phonological Systematization in Children with Williams Syndrome: A Longitudinal Study. (Thesis). University of Vermont. Retrieved from https://scholarworks.uvm.edu/hcoltheses/269

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Garber, Claudia G. “Early Phonological Systematization in Children with Williams Syndrome: A Longitudinal Study.” 2018. Thesis, University of Vermont. Accessed March 03, 2021. https://scholarworks.uvm.edu/hcoltheses/269.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Garber, Claudia G. “Early Phonological Systematization in Children with Williams Syndrome: A Longitudinal Study.” 2018. Web. 03 Mar 2021.

Vancouver:

Garber CG. Early Phonological Systematization in Children with Williams Syndrome: A Longitudinal Study. [Internet] [Thesis]. University of Vermont; 2018. [cited 2021 Mar 03]. Available from: https://scholarworks.uvm.edu/hcoltheses/269.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Garber CG. Early Phonological Systematization in Children with Williams Syndrome: A Longitudinal Study. [Thesis]. University of Vermont; 2018. Available from: https://scholarworks.uvm.edu/hcoltheses/269

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Wisconsin – Milwaukee

22. van der Fluit, Faye. Autism Spectrum Disorder Symptomatology in Verbal Children with Williams Syndrome.

Degree: PhD, Psychology, 2014, University of Wisconsin – Milwaukee

URL: https://dc.uwm.edu/etd/772

► Many genetic disorders of known etiology share behavioral characteristic with the autism spectrum disorders (ASD), including language delays, social difficulties, and unusual patterns of… (more)

Subjects/Keywords: Autism Spectrum Disorders; Genetic Disorders; Williams Syndrome; Psychology

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APA (6^th Edition):

van der Fluit, F. (2014). Autism Spectrum Disorder Symptomatology in Verbal Children with Williams Syndrome. (Doctoral Dissertation). University of Wisconsin – Milwaukee. Retrieved from https://dc.uwm.edu/etd/772

Chicago Manual of Style (16^th Edition):

van der Fluit, Faye. “Autism Spectrum Disorder Symptomatology in Verbal Children with Williams Syndrome.” 2014. Doctoral Dissertation, University of Wisconsin – Milwaukee. Accessed March 03, 2021. https://dc.uwm.edu/etd/772.

MLA Handbook (7^th Edition):

van der Fluit, Faye. “Autism Spectrum Disorder Symptomatology in Verbal Children with Williams Syndrome.” 2014. Web. 03 Mar 2021.

Vancouver:

van der Fluit F. Autism Spectrum Disorder Symptomatology in Verbal Children with Williams Syndrome. [Internet] [Doctoral dissertation]. University of Wisconsin – Milwaukee; 2014. [cited 2021 Mar 03]. Available from: https://dc.uwm.edu/etd/772.

Council of Science Editors:

van der Fluit F. Autism Spectrum Disorder Symptomatology in Verbal Children with Williams Syndrome. [Doctoral Dissertation]. University of Wisconsin – Milwaukee; 2014. Available from: https://dc.uwm.edu/etd/772

University of California – San Diego

23. Lew, Caroline Horton. The Social Brain in Williams Syndrome: Cellular Disturbances of the Orbitofrontal Cortex and the Amygdala in a Disorder of Social Cognition.

Degree: Anthropology, 2018, University of California – San Diego

URL: http://www.escholarship.org/uc/item/5f3325n7

► Sociality in humans is unparalleled by any other animal, and serves as an essentialdefining characteristic of our species. Human/non-human primate comparative neuroanatomical studies, in conjunction… (more)

▼ Sociality in humans is unparalleled by any other animal, and serves as an essentialdefining characteristic of our species. Human/non-human primate comparative neuroanatomical studies, in conjunction with evidence from the hominin fossil record, suggest that the human brain has undergone significant changes since the human-ape ancestral split, not only in size, but more significantly in microstructural reorganization and regional specialization. The prefrontal cortex, a region attributed to many of the higher-order functions involved in human cognition, and the amygdala, a subcortical structure involved in the integration of perceptual information from the cortex and the elicitation of social and emotional responses, have both undergone recent, rapid and functionally significant change in human brain evolution. Connectivity and neuroimaging studies have shown that the amygdala and the orbitofrontal cortex (OFC), a subdivision of the prefrontal cortex implicated in social/emotional cognition, share an important functional relationship within social brain circuitry. Comparative neuroanatomical studies of human neural pathologies such as Williams syndrome (WS), a rare neurodevelopmental disorder caused by a discrete hemizygous deletion of ~26 consecutive genes and characterized by hyper-affiliative social drive and atypical social cognition, further illuminate substrates of neural architecture that are critical for normative function of the human social brain, and offer new insight into the evolutionary trajectory of the social brain in humans. Utilizing standard and advanced tissue staining techniques and quantitative stereology in postmortem human brains, this dissertation offers a cellular characterization of the orbitofrontal cortex and the amygdala in WS and typically developing individuals. Our key findings of altered microstructure in WS include decreased neuron density in the infragranular layers of the orbitofrontal cortex and relative sparing of unimodal cortical areas, increased neuron number in the lateral nucleus of the amygdala, an amygdaloid subdivision that has undergone significant reorganization human brain evolution, and decreased amygdaloid serotonergic innervation in the basolateral nuclei, which underlie sociocognitive functions of the amygdala. These findings constitute evidence supporting disrupted social brain circuitry in WS, and are a critical first step towards identifying mechanisms underlying the atypical social phenotype. Additionally, these findings identify possible microstructural specializations that may contribute to uniquely human social cognition.

Subjects/Keywords: Neurosciences; Evolution & development; amygdala; orbitofrontal cortex; Williams syndrome

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APA (6^th Edition):

Lew, C. H. (2018). The Social Brain in Williams Syndrome: Cellular Disturbances of the Orbitofrontal Cortex and the Amygdala in a Disorder of Social Cognition. (Thesis). University of California – San Diego. Retrieved from http://www.escholarship.org/uc/item/5f3325n7

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Lew, Caroline Horton. “The Social Brain in Williams Syndrome: Cellular Disturbances of the Orbitofrontal Cortex and the Amygdala in a Disorder of Social Cognition.” 2018. Thesis, University of California – San Diego. Accessed March 03, 2021. http://www.escholarship.org/uc/item/5f3325n7.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Lew, Caroline Horton. “The Social Brain in Williams Syndrome: Cellular Disturbances of the Orbitofrontal Cortex and the Amygdala in a Disorder of Social Cognition.” 2018. Web. 03 Mar 2021.

Vancouver:

Lew CH. The Social Brain in Williams Syndrome: Cellular Disturbances of the Orbitofrontal Cortex and the Amygdala in a Disorder of Social Cognition. [Internet] [Thesis]. University of California – San Diego; 2018. [cited 2021 Mar 03]. Available from: http://www.escholarship.org/uc/item/5f3325n7.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Lew CH. The Social Brain in Williams Syndrome: Cellular Disturbances of the Orbitofrontal Cortex and the Amygdala in a Disorder of Social Cognition. [Thesis]. University of California – San Diego; 2018. Available from: http://www.escholarship.org/uc/item/5f3325n7

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Ottawa

24. Gandhi, Reno. Hippocampal Synaptic Plasticity in a Murine Knock-Out Model of Fragile X Syndrome .

Degree: 2014, University of Ottawa

URL: http://hdl.handle.net/10393/31610

► The dissertation is divided into two separate experiments that explore the effects of visual-spatial learning on PSD-95 dorsal hippocampal expression. Specifically, the aim of these… (more)

▼ The dissertation is divided into two separate experiments that explore the effects of visual-spatial learning on PSD-95 dorsal hippocampal expression. Specifically, the aim of these studies was to explore the effect of learning an assay, the Hebb-Williams mazes, on the protein expression of PSD-95 in Fmr1 KO mice. PSD-95 is an important scaffolding protein hypothesized to be involved in learning and memory. In cellular models of Fragile X Syndrome it has been shown to be dysregulated but it has never been measured following behavioural learning. Establishment of a deficit using an ecologically valid behavioural assay could lead to the development of novel interventions. Study one employed a subset of the Hebb-Williams mazes of various levels of difficulty to evaluate PSD-95 protein expression in Fmrp intact and Fmr1 KO mice following learning. The results revealed significant increases in PSD-95 protein expression in control runners when compared to Fmr1 KO mice. There was a negative correlation between PSD-95 protein levels and mean total errors on the mazes meaning that as expression was increased, errors were decreased. The goals of study two were to reverse the molecular and behavioural deficits using pharmacological antagonist treatment shown to be effective in cellular models of Fragile X Syndrome. Fmr1 KO mice were treated with either saline or 20 mg/kg of a metabotropic glutamate receptor antagonist, 2-Methyl-6-(phenylethynyl) pyridine (MPEP). Relative to saline treated controls, drug treated Fmr1 KO mice made fewer errors on the same subset of Hebb-Williams mazes used in study one. Latency to complete these mazes did not differ between groups, indicating that MPEP treatment does not adversely affect motor functioning. Protein assessment revealed that PSD-95 was selectively rescued in MPEP treated mice and not saline controls. Similar to study one, a negative correlation between PSD-95 protein levels and mean total errors was observed. When taken together, these studies indicate that protein deficits are associated with a deficit of learning that can be reversed with a selective glutamate receptor antagonist. One of the strengths of the Hebb-Williams mazes is that performance is measurable without floor or ceiling effects, which plague other common behavioural assays. These data further suggest that pharmacological antagonist treatments may be promising in correcting the learning deficits in human Fragile X Syndrome patients.

Subjects/Keywords: Fragile X Syndrome; Hebb-Williams Mazes; PSD-95; Western Blot

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APA (6^th Edition):

Gandhi, R. (2014). Hippocampal Synaptic Plasticity in a Murine Knock-Out Model of Fragile X Syndrome . (Thesis). University of Ottawa. Retrieved from http://hdl.handle.net/10393/31610

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Gandhi, Reno. “Hippocampal Synaptic Plasticity in a Murine Knock-Out Model of Fragile X Syndrome .” 2014. Thesis, University of Ottawa. Accessed March 03, 2021. http://hdl.handle.net/10393/31610.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Gandhi, Reno. “Hippocampal Synaptic Plasticity in a Murine Knock-Out Model of Fragile X Syndrome .” 2014. Web. 03 Mar 2021.

Vancouver:

Gandhi R. Hippocampal Synaptic Plasticity in a Murine Knock-Out Model of Fragile X Syndrome . [Internet] [Thesis]. University of Ottawa; 2014. [cited 2021 Mar 03]. Available from: http://hdl.handle.net/10393/31610.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Gandhi R. Hippocampal Synaptic Plasticity in a Murine Knock-Out Model of Fragile X Syndrome . [Thesis]. University of Ottawa; 2014. Available from: http://hdl.handle.net/10393/31610

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Toronto

25. Dida, Joana. Effect of Gtf2i Gene in Anxiety.

Degree: 2013, University of Toronto

URL: http://hdl.handle.net/1807/42815

►

Duplication and deletion of a common interval spanning 26 genes on chromosome 7q11.23 cause Dup7q11.23 Syndrome and Williams-Beuren Syndrome, neurodevelopmental disorders with contrasting anxiety phenotypes.… (more)

Subjects/Keywords: anxiety; Williams Beuren Syndrome; Dup7q11.23; Gtf2i; 0369; 0317

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APA (6^th Edition):

Dida, J. (2013). Effect of Gtf2i Gene in Anxiety. (Masters Thesis). University of Toronto. Retrieved from http://hdl.handle.net/1807/42815

Chicago Manual of Style (16^th Edition):

Dida, Joana. “Effect of Gtf2i Gene in Anxiety.” 2013. Masters Thesis, University of Toronto. Accessed March 03, 2021. http://hdl.handle.net/1807/42815.

MLA Handbook (7^th Edition):

Dida, Joana. “Effect of Gtf2i Gene in Anxiety.” 2013. Web. 03 Mar 2021.

Vancouver:

Dida J. Effect of Gtf2i Gene in Anxiety. [Internet] [Masters thesis]. University of Toronto; 2013. [cited 2021 Mar 03]. Available from: http://hdl.handle.net/1807/42815.

Council of Science Editors:

Dida J. Effect of Gtf2i Gene in Anxiety. [Masters Thesis]. University of Toronto; 2013. Available from: http://hdl.handle.net/1807/42815

North-West University

26. Erasmus, Ewie. The lived musical experiences of individuals living with Williams syndrome : an interpretative phenomenological analysis / Ewie Erasmus .

Degree: 2014, North-West University

URL: http://hdl.handle.net/10394/14234

► 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… (more)

Subjects/Keywords: Williams syndrome; Lived experiences; Musical experience; Interpretative phenomenological analysis

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APA (6^th Edition):

Erasmus, E. (2014). The lived musical experiences of individuals living with Williams syndrome : an interpretative phenomenological analysis / Ewie Erasmus . (Thesis). North-West University. Retrieved from http://hdl.handle.net/10394/14234

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Erasmus, Ewie. “The lived musical experiences of individuals living with Williams syndrome : an interpretative phenomenological analysis / Ewie Erasmus .” 2014. Thesis, North-West University. Accessed March 03, 2021. http://hdl.handle.net/10394/14234.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Erasmus, Ewie. “The lived musical experiences of individuals living with Williams syndrome : an interpretative phenomenological analysis / Ewie Erasmus .” 2014. Web. 03 Mar 2021.

Vancouver:

Erasmus E. The lived musical experiences of individuals living with Williams syndrome : an interpretative phenomenological analysis / Ewie Erasmus . [Internet] [Thesis]. North-West University; 2014. [cited 2021 Mar 03]. Available from: http://hdl.handle.net/10394/14234.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Erasmus E. The lived musical experiences of individuals living with Williams syndrome : an interpretative phenomenological analysis / Ewie Erasmus . [Thesis]. North-West University; 2014. Available from: http://hdl.handle.net/10394/14234

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

27. Chasouris, Antonios. Developmental psychopathology in children with Williams syndrome.

Degree: PhD, 2008, University of South Wales

URL: https://pure.southwales.ac.uk/en/studentthesis/developmental-psychopathology-in-children-with-williams-syndrome(ab574729-939a-45b6-8507-58cb3d050d7e).html ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.503417

► 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… (more)

▼ 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.

Subjects/Keywords: 150.724; Psychology; Pathological; Williams syndrome

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Chasouris, A. (2008). Developmental psychopathology in children with Williams syndrome. (Doctoral Dissertation). University of South Wales. Retrieved from https://pure.southwales.ac.uk/en/studentthesis/developmental-psychopathology-in-children-with-williams-syndrome(ab574729-939a-45b6-8507-58cb3d050d7e).html ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.503417

Chicago Manual of Style (16^th Edition):

Chasouris, Antonios. “Developmental psychopathology in children with Williams syndrome.” 2008. Doctoral Dissertation, University of South Wales. Accessed March 03, 2021. https://pure.southwales.ac.uk/en/studentthesis/developmental-psychopathology-in-children-with-williams-syndrome(ab574729-939a-45b6-8507-58cb3d050d7e).html ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.503417.

MLA Handbook (7^th Edition):

Chasouris, Antonios. “Developmental psychopathology in children with Williams syndrome.” 2008. Web. 03 Mar 2021.

Vancouver:

Chasouris A. Developmental psychopathology in children with Williams syndrome. [Internet] [Doctoral dissertation]. University of South Wales; 2008. [cited 2021 Mar 03]. Available from: https://pure.southwales.ac.uk/en/studentthesis/developmental-psychopathology-in-children-with-williams-syndrome(ab574729-939a-45b6-8507-58cb3d050d7e).html ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.503417.

Council of Science Editors:

Chasouris A. Developmental psychopathology in children with Williams syndrome. [Doctoral Dissertation]. University of South Wales; 2008. Available from: https://pure.southwales.ac.uk/en/studentthesis/developmental-psychopathology-in-children-with-williams-syndrome(ab574729-939a-45b6-8507-58cb3d050d7e).html ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.503417

University of Melbourne

28. Gomez, Rashika Miranjani. Affective responsivity in Williams Syndrome: behaviour, psychophysiology, and brain.

Degree: 2013, University of Melbourne

URL: http://hdl.handle.net/11343/38086

► The primary goal of this thesis was to evaluate the behavioural and psychophysiological affective response profiles of Williams syndrome (WS) individuals, and to examine the… (more)

▼ The primary goal of this thesis was to evaluate the behavioural and psychophysiological affective response profiles of Williams syndrome (WS) individuals, and to examine the links between these affective responses and amygdala structure and function. It is proposed that abnormalities in the structure and function of the amygdala would be associated with atypical affective responsivity in WS individuals. To achieve these goals, three studies were conducted. Study 1 compared affective behavioural responsivity of WS and control groups across domains of music, anxiety, fear, and sociability. This study also evaluated the relationships between these affective behaviour domains to compare inter-domain relationships between WS and controls. A secondary goal of this study was to evaluate the stability in sociability scores in WS individuals over a five year period. Study 2 compared affective psychophysiological responsivity of WS and control groups in terms of several psychophysiological measures, namely, startle eyeblink, (SEB), zygomatic activity (ZY), corrugator activity (CO), skin conductance (SC), and heart rate (HR). Psychophysiological responsivity, especially affective SEB modulation, was considered an indirect means of evaluating amygdala functioning. Study 3 evaluated relationships between behavioural and psychophysiological affective responsivity and amygdala volume in WS individuals. Data for Study 1 and Study 2 were collected concurrently. In brief, 25 genetically confirmed WS individuals and 25 normal control participants, matched on chronological age, sex, and handedness, ranging in age from 10 to 37 years, were evaluated. Participants were administered measures that assessed handedness, intelligence, affective behavioural responsivity in domains of music and sociability, and psychophysiological responsivity. Parents/guardians completed questionnaires detailing participants’ fears, anxieties, and musical interests. In Study 1, for a subset of 19 of the 25 WS participants, sociability scores were collected at two time points, at Time 1, five years prior by Martens (2005) and Time 2, during the current study, to examine stability of scores over time. In Study 3, for 17 of the 25 WS participants, amygdala volumes, measured via MRI scans at Time 1 were used to predict affective behavioural and psychophysiological responsivity at Time 2. The findings in Study 1 showed higher affective responsivity to music, elevated fear and anxiety, and hyper-sociability in WS participants, compared to controls. The associations between affective responsivity in these behaviour domains differed across the WS and control groups. The findings in Study 1 also showed stability in sociability scores over a five year period between Time 1 and Time 2. The findings in Study 2 demonstrated exaggerated psychophysiological responsivity in the WS group, compared to the control group, in terms of SEB, ZY…

Subjects/Keywords: Williams Syndrome; amygdala; psychophysiology; affective response; music; fear; anxiety; sociability

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Gomez, R. M. (2013). Affective responsivity in Williams Syndrome: behaviour, psychophysiology, and brain. (Doctoral Dissertation). University of Melbourne. Retrieved from http://hdl.handle.net/11343/38086

Chicago Manual of Style (16^th Edition):

Gomez, Rashika Miranjani. “Affective responsivity in Williams Syndrome: behaviour, psychophysiology, and brain.” 2013. Doctoral Dissertation, University of Melbourne. Accessed March 03, 2021. http://hdl.handle.net/11343/38086.

MLA Handbook (7^th Edition):

Gomez, Rashika Miranjani. “Affective responsivity in Williams Syndrome: behaviour, psychophysiology, and brain.” 2013. Web. 03 Mar 2021.

Vancouver:

Gomez RM. Affective responsivity in Williams Syndrome: behaviour, psychophysiology, and brain. [Internet] [Doctoral dissertation]. University of Melbourne; 2013. [cited 2021 Mar 03]. Available from: http://hdl.handle.net/11343/38086.

Council of Science Editors:

Gomez RM. Affective responsivity in Williams Syndrome: behaviour, psychophysiology, and brain. [Doctoral Dissertation]. University of Melbourne; 2013. Available from: http://hdl.handle.net/11343/38086

University of Limerick

29. Kelliher, Deirdre. An investigation into the effects of iPad/tablet device use in special education and in particular in the case of a student with Williams Syndrome: a case study approach.

Degree: 2013, University of Limerick

URL: http://hdl.handle.net/10344/3581

►

non-peer-reviewed

Williams Syndrome is a rare neurodevelopmental genetic disorder that is associated with a particular uneven cognitive profile. The student with Williams Syndrome at the… (more)

▼

non-peer-reviewed

Williams Syndrome is a rare neurodevelopmental genetic disorder that is associated with a particular uneven cognitive profile. The student with Williams Syndrome at the centre of this investigation is six years old and attends senior infants in a primary mainstream school setting in the west of Ireland. In common with other children with Williams Syndrome, the student experiences difficulty with number concepts and gross and fine motor skills, including handwriting. Difficulties in concentration and distractibility posed a major barrier to learning for the student. In 2010, the first commercially successful tablet product known as the Apple iPad was released. It was reported at the time that there was a rapid uptake of the iPad in the area of education. The iPad has been identified as defining a new genre of mobile technological device. Other brands of tablet computers soon followed the release of the iPad. However, the iPad has remained the tablet of choice in many schools. The main aim of this study was to investigate the effects of iPad use on students with special needs and in particular in the case of a student with Williams Syndrome. Initially, a profile of the participants in the study was established to assist in the identification and selection of appropriate iPad applications for the period of study. Over a period of nine weeks, the student was observed using an Apple iPad device on a daily basis. In addition, an online questionnaire was distributed to teachers of students with Special Educational Needs (SEN) using iPads or other tablet computers. A combination of qualitative and quantitative methods such as observations, interviews, and both formal and informal tests were used to collect findings from the case study research. The study investigated the effects of iPad use on the special needs student in the areas of academic achievement, behaviour, concentration, motivation and communication. Results reveal an increase in achievement levels in the areas of reading and handwriting as a result of iPad use. The iPad use had little or no effect on the case study student’s numeracy skills, though other SEN teachers surveyed thought that iPad use had an effect on improving numeracy skills. Following use of the Guided Access features of the iPad, the student’s concentration levels increased considerably. Findings also suggest that iPad use leads to increased levels of motivation. However, the impact of iPad use on communication skills is more ambiguous. This study confirms that the iPad is a valuable educational tool to be considered in personalising learning situations, particularly such as those found in special needs education.

Advisors/Committee Members: Collins, Joe.

Subjects/Keywords: Williams syndrome; primary school students; iPads; educational tool

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APA (6^th Edition):

Kelliher, D. (2013). An investigation into the effects of iPad/tablet device use in special education and in particular in the case of a student with Williams Syndrome: a case study approach. (Thesis). University of Limerick. Retrieved from http://hdl.handle.net/10344/3581

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Kelliher, Deirdre. “An investigation into the effects of iPad/tablet device use in special education and in particular in the case of a student with Williams Syndrome: a case study approach.” 2013. Thesis, University of Limerick. Accessed March 03, 2021. http://hdl.handle.net/10344/3581.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Kelliher, Deirdre. “An investigation into the effects of iPad/tablet device use in special education and in particular in the case of a student with Williams Syndrome: a case study approach.” 2013. Web. 03 Mar 2021.

Vancouver:

Kelliher D. An investigation into the effects of iPad/tablet device use in special education and in particular in the case of a student with Williams Syndrome: a case study approach. [Internet] [Thesis]. University of Limerick; 2013. [cited 2021 Mar 03]. Available from: http://hdl.handle.net/10344/3581.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Kelliher D. An investigation into the effects of iPad/tablet device use in special education and in particular in the case of a student with Williams Syndrome: a case study approach. [Thesis]. University of Limerick; 2013. Available from: http://hdl.handle.net/10344/3581

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Louisville

30. Ha, Oh Ryeong. The development of word-object associations in typically developing infants and infants and toddlers with Williams syndrome.

Degree: PhD, 2013, University of Louisville

URL: 10.18297/etd/553 ; https://ir.library.louisville.edu/etd/553

► The ability to form associations between words and objects rapidly with a short amount of exposure is a marker of more proficient word learners in… (more)

▼ The ability to form associations between words and objects rapidly with a short amount of exposure is a marker of more proficient word learners in typically developing (TD) infants. Investigating the underlying mechanisms for how words are associated with objects is necessary for understanding early word learning in the TD population as well as in people with Williams syndrome (WS), a rare neurogenetic developmental disorder characterized by language delay in early development. The findings in the present study showed a developmental difference in the ability to form word–object associations between 12 and 14 months of age in TD infants. It was indicated that whereas TD 12-month-old infants predominantly processed objects, TD 14-month-old infants processed objects, words, and word–object associations. The developmental pattern found with the participants with WS was very similar to that found in the TD infants. The findings indicated that toddlers with WS develop the ability to rapidly learn word-object associations as early as 2 years of age. Whereas 1-year-olds with WS processed objects and words, 2-year-olds with WS processed objects, words, and word–object associations. These patterns suggested that infants and toddlers with WS may go through similar developmental changes in learning word–object associations as TD population, though their language development is delayed. The findings provided evidence of underlying mechanisms of early word learning in both TD infants and infants and toddlers with WS. In the present study on learning word–object associations, a domain-general developmental progression from an independent to an integrated level of processing was found. In both TD infants and infants and toddlers with WS, novice word learners, who were in the independent processing phase, mainly processed the word and/or object information, but processed them independently of one another. In contrast, intermediate word learners processed associative information between words and objects, as well as the word and object information. This developmental progression was consistent with Cohen’s information processing approach to infant cognitive and perceptual development. Advisors/Committee Members: Cashon, Cara Helen.

Subjects/Keywords: Infants; Language development; Williams syndrome; Information processing; Word learning; Infant development

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Ha, O. R. (2013). The development of word-object associations in typically developing infants and infants and toddlers with Williams syndrome. (Doctoral Dissertation). University of Louisville. Retrieved from 10.18297/etd/553 ; https://ir.library.louisville.edu/etd/553

Chicago Manual of Style (16^th Edition):

Ha, Oh Ryeong. “The development of word-object associations in typically developing infants and infants and toddlers with Williams syndrome.” 2013. Doctoral Dissertation, University of Louisville. Accessed March 03, 2021. 10.18297/etd/553 ; https://ir.library.louisville.edu/etd/553.

MLA Handbook (7^th Edition):

Ha, Oh Ryeong. “The development of word-object associations in typically developing infants and infants and toddlers with Williams syndrome.” 2013. Web. 03 Mar 2021.

Vancouver:

Ha OR. The development of word-object associations in typically developing infants and infants and toddlers with Williams syndrome. [Internet] [Doctoral dissertation]. University of Louisville; 2013. [cited 2021 Mar 03]. Available from: 10.18297/etd/553 ; https://ir.library.louisville.edu/etd/553.

Council of Science Editors:

Ha OR. The development of word-object associations in typically developing infants and infants and toddlers with Williams syndrome. [Doctoral Dissertation]. University of Louisville; 2013. Available from: 10.18297/etd/553 ; https://ir.library.louisville.edu/etd/553

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Open Access Theses and Dissertations