Building a competence center for Wiliams Syndrome at The Hochschule Zittau/Görlitz – current research, teaching and Third Mission
Title Alternative:Výstavba centra pro Williamsův syndrom v Hochschule Zittau/Görlitz – současný výzkum, výuka a Třetí Mise
dc.contributor.author | Prosetzky, Ingolf | |
dc.contributor.author | Danielsmeier, Vera | |
dc.date.accessioned | 2018-12-13T08:32:03Z | |
dc.date.available | 2018-12-13T08:32:03Z | |
dc.date.issued | 2018-12-31 | |
dc.description.abstract | Williamsův syndrom (WS) je vzácná porucha nervové soustavy způsobená ztrátou genu na chromozomu 7, která se vyskytuje u 1 ze 7500 živě narozených dětí. Fenotyp WS je typicky spojen s mírným mentálním postižením, srdečními problémy, hypersociálním chováním, úzkostmi a potřebou péče po celou délku života. Současný výzkum se zaměřuje hlavně na klinické charakteristiky, čímž poskytuje důležité výsledky pro zdravotnický management. Rodiče, terapeuti a profesionální pečovatelé však mohou najít velmi málo použitelných návodů pro výzvy každodenního života. Cílem autorů je položit si výzkumné otázky a pomoci překlenout tyto mezery v dlouhodobém horizontu. Proto se zabývají budováním kompetenčního centra pro WS na Univerzitě aplikovaných věd Zittau / Görlitz (HSZG). Tento článek popisuje výchozí bod a hlavní myšlenku, stejně jako dokončené, probíhající a plánované vědecké a podpůrné aktivity. | cs |
dc.description.abstract | Beim Williams-Syndrom (WS) handelt es sich um eine seltene nervliche Entwicklungsstörung, welche auf einem Genverlust am Chromosom 7 beruht. Diese Störung wird bei einer von 7500 Geburten diagnostiziert. Der WS-Phänotyp geht typischerweise einher mit einer mäßigen geistigen Behinderung, Herzproblemen, einem hypersozialen Verhalten, Angstzuständen und dem Bedürfnis nach lebenslanger Unterstützung. Die gegenwärtige Forschung ist hauptsächlich auf die klinischen Charakteristiken gerichtet und bringt so wichtige Folgerungen für das medizinische Management. Eltern, Therapeuten und professionelle Betreuer vermögen freilich nur sehr wenige brauchbare Folgerungen für die Herausforderungen des Alltagslebens zu finden. Die Autoren zielen darauf ab, Forschungsfragen zu stellen und langfristig diese Lücke zu überbrücken. Daher sind sie damit befasst, an der Hochschule Zittau/Görlitz (HSZG) ein Kompetenzzentrum für das WS einzurichten. Dieser Artikel skizziert den Anfangspunkt und den Hauptgedanken sowie weiterführende und geplante wissenschaftliche unterstützende Aktivitäten. | de |
dc.description.abstract | Williams Syndrome (WS) is a rare neurodevelopmental disorder based on a gene loss on chromosome 7, which occurs in 1 of 7,500 live births. The WS phenotype is typically associated with moderate mental disability, cardiac problems, hyper social behavior, anxieties, and a need for lifelong support. Current research focuses mainly on clinical characteristics, thus providing important implications for medical management. Parents, therapists and professional caregivers are able to find very few usable implications for everyday-life challenges though. The authors aim to raise research questions and help to bridge this gap in the long term. Therefore they are engaged in building a competence center for WS at the University of Applied Sciences Zittau/Görlitz (HSZG). This article outlines the starting point and main idea, as well as completed, ongoing and planned scientific and supportive activities. | en |
dc.description.abstract | Zespół Williamsa (ZW) to rzadkie zaburzenie układu nerwowego spowodowane mutacją w obrębie chromosomu 7, występujące u 1 na 7500 żywych urodzonych dzieci. Fenotyp ZW jest typowo związany z łagodnym upośledzeniem umysłowym, wadami serca, zaburzeniami zachowania, lękami i konieczną opieką przez całe życie. Obecne badania skupiają się przede wszystkich na cechach klinicznych, dając ważne informacje dla zarządzania medycznego. Jednak rodzice, terapeuci i profesjonalni opiekunowie mogą znaleźć niewiele informacji, jak podołać wyzwaniom życia codziennego. Celem autorów jest sformułowanie pytań badawczych i chęć zagospodarowania tych braków w perspektywie długoterminowej. Dlatego zajmują się oni stworzeniem ośrodka kompetencyjnego dla ZW na Uniwersytecie Nauk Stosowanych Zittau/ Görlitz (HSZG). W niniejszym artykule opisano punkty wyjścia oraz główną ideę a także ukończone, trwające i planowane działania naukowe i wspomagające. | pl |
dc.format | text | |
dc.format.extent | 12 stran | |
dc.identifier.doi | 10.15240/tul/004/2018-3-010 | |
dc.identifier.eissn | 1803-9790 | |
dc.identifier.issn | 1803-9782 | |
dc.identifier.other | ACC_2018_3_10 | |
dc.identifier.uri | https://dspace.tul.cz/handle/15240/99029 | |
dc.language.iso | en | |
dc.license | CC BY-NC 4.0 | |
dc.publisher | Technická univerzita v Liberci, Česká republika | cs |
dc.relation.isbasedon | STROMME, P.; BJORNSTAD, P. G.; RAMSTAD, K.: Prevalence estimation of Williams syndrome. Journal of Child Neurology. DOI: 10.1177/088307380201700406 | |
dc.relation.isbasedon | EWART, A. K. et al.: Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature Genetics. DOI: 10.1038/ng0993-11 | |
dc.relation.isbasedon | POBER, B. R.; Williams-Beuren syndrome. The New England Journal of Medicine. DOI: 10.1056/NEJMra0903074 | |
dc.relation.isbasedon | BARAK, B.; FENG, G.: Neurobiology of social behavior abnormalities in autism and Williams syndrome. Nature Neuroscience. DOI: 10.1038/nn.4276 | |
dc.relation.isbasedon | MARTENS, M. A.; WILSON, S. J.; REUTENS, D. C.: Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. Journal of Child Psychology and Psychiatry. DOI: 10.1111/j.1469-7610.2008.01887.x | |
dc.relation.isbasedon | RIBY, D. M. et al.: The interplay between anxiety and social functioning in Williams syndrome. Journal of Autism and Developmental Disorders. DOI: 10.1007/s10803-013-1984-7 | |
dc.relation.isbasedon | MEYER-LINDENBERG, A.; MERVIS, C. B.; BERMAN, K. F.: Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour. Nature Reviews Neuroscience. DOI: 10.1038/nrn1906 | |
dc.relation.isbasedon | NIKITINA, E. A. et al.: Williams syndrome as a model for elucidation of the pathway genes – the brain – cognitive functions: genetics and epigenetics. Acta Naturae. 2014. Vol. 6, Issue 1, pp. 9–22. | |
dc.relation.isbasedon | ATKINSON, J.; BRADDICK, O.: From genes to brain development to phenotypic behavior: “dorsal-stream vulnerability” in relation to spatial cognition, attention, and planning of actions in Williams syndrome (WS) and other developmental disorders. Progress in Brain Research. DOI: 10.1016/B978-0-444-53884-0.00029-4 | |
dc.relation.isbasedon | WILLIAMS, J. C.; BARRATT-BOYES, B. G.; LOWE, J. B.: Supravalvular aortic stenosis. Circulation. 1961; Vol. 24, pp. 1311–1318. | |
dc.relation.isbasedon | BEUREN, A. J.; APITZ, J.; HARMJANZ, D.: Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation, 1962; Vol. 26, pp. 1235–1240. | |
dc.relation.isbasedon | LANDAU, B.; FERRARA, K.: Space and Language in Williams syndrome: Insights from typical development. WIREs Cognitive Science. DOI: 10.1002/wcs.1258 | |
dc.relation.isbasedon | LANDAU, B.; HOFFMAN, J. E.; KURZ, N.: Object recognition with severe spatial deficits in Williams syndrome: sparing and breakdown. Cognition. DOI: 10.1016/j.cognition.2005.06.005 | |
dc.relation.isbasedon | FARRAN, E. K. et al.: Route knowledge and configural knowledge in typical and atypical development: a comparison of sparse and rich environments. Journal of Neurodevelopmental Disorders. DOI: 10.1186/s11689-015-9133-6 | |
dc.relation.isbasedon | MEYER-LINDENBERG, A. et al.: Neural basis of genetically determined visuospatial construction deficit in Williams syndrome. Neuron. DOI: 10.1016/j.neuron.2004.08.014 | |
dc.relation.isbasedon | Van HERWEGEN, J.: Williams syndrome and its cognitive profile: the importance of eye movements. Psychology Research and Behavior Management. DOI: 10.2147/PRBM.S63474 | |
dc.relation.isbasedon | BROCK, J.: Language abilities in Williams syndrome: A critical review. Development and Psychopathology. DOI: 10.1017/S095457940707006X | |
dc.relation.isbasedon | LEVITIN, D. J. et al.: Aversion, awareness, and attraction: Investigating claims of hyperacusis in the Williams syndrome phenotype. Journal of Child Psychology and Psychiatry. DOI: 10.1111/j.1469-7610.2004.00376.x | |
dc.relation.isbasedon | NG, R. et al.: Musicality Correlates With Sociability and Emotionality in Williams Syndrome. Journal of Mental Health Research in Intellectual Disabilities. DOI: 10.1080/19315864.2012.683932 | |
dc.relation.isbasedon | BELLUGI, U. et al.: Neuropsychological, neurological, and neuroanatomical profile of Williams syndrome. American Journal of Medical Genetics. Supplement, 1990, Vol. 37, Issue S6, pp. 115–125. DOI: 10.1002/ajmg.1320370621 | |
dc.relation.isbasedon | LEVITIN, D. J. et al.: Neural correlates of auditory perception in Williams syndrome: An fMRI study. NeuroImage. DOI: 10.1006/nimg.2002.1297 | |
dc.relation.isbasedon | DANIELSMEIER, V. A.: Das Musik- und Geräuscherleben von Menschen mit Williams-Beuren-Syndrom im Kontext psychischer und sozialer Kontextfaktoren. Eine ressourcenorientierte Studie. Masterthesis, 2014, Universität Bremen: Bremen. | |
dc.relation.isbasedon | DYKENS, E. M. et al.: Music and anxiety in Williams syndrome: A harmonious or discordant relationship? American Journal on Mental Retardation. DOI: 10.1352/0895-8017(2005)110[346:MAAIWS]2.0.CO;2 | |
dc.relation.isbasedon | LEVITIN, D. J.; BELLUGI, U.: Musical abilities in individuals with Williams syndrome. Music Perception. DOI: 10.2307/40300863 | |
dc.relation.isbasedon | DYKENS, E. M.: Anxiety, fears, and phobias in persons with Williams syndrome. Developmental Neuropsychology. DOI: 10.1080/87565641.2003.9651896 | |
dc.relation.isbasedon | NG-CORDELL, E. et al.: Anxiety in Williams Syndrome: The Role of Social Behaviour, Executive Functions and Change Over Time. Journal of Autism and Developmental Disorders. DOI: 10.1007/s10803-017-3357-0 | |
dc.relation.isbasedon | ROYSTON, R. et al.: Anxiety Disorders in Williams Syndrome Contrasted with Intellectual Disability and the General Population: A Systematic Review and Meta-Analysis. Journal of Autism and Developmental Disorders. DOI: 10.1007/s10803-016-2909-z | |
dc.relation.isbasedon | STINTON, Ch.; ELISON, S.; HOWLIN, P.: Mental health problems in adults with Williams syndrome. American Journal on Intellectual and Developmental Disabilities. DOI: 10.1352/1944-7558-115.1.3 | |
dc.relation.isbasedon | FISCHER, K. W.; BIDELL, T. R.: Dynamic Development of Action and Thought. Handbook of Child Psychology. DOI: 10.1002/9780470147658.chpsy0107 | |
dc.relation.isbasedon | STANGL, W: Grundlagenforschung. Online Lexikon für Psychologie und Pädagogik. [online]. 2018. [accessed 2018-10-30]. Available from WWW: http://lexikon.stangl.eu/3600/grundlagenforschung | |
dc.relation.isbasedon | DYKENS, E. M.: The Williams syndrome behavioral phenotype: the ‘whole person’ is missing. Current Opinion in Psychiatry. DOI: 10.1097/00001504-200309000-00006 | |
dc.relation.isbasedon | FISHER, M. H. et al.: Experiences of Bullying for Individuals with Williams Syndrome. Journal of Mental Health Research in Intellectual Disabilities. DOI: 10.1080/19315864.2016.1278289 | |
dc.relation.isbasedon | FISHER, M. H.; MELLO, M. P.; DYKENS, E. M.: Who reports it best? A comparison between parent-report, self-report, and the real life social behaviors of adults with Williams syndrome. Research in Developmental Disabilities. DOI: 10.1016/j.ridd.2014.08.011 | |
dc.relation.isbasedon | PROSETZKY, I.: Mehr als die Summe seiner Symptome: zur kulturhistorischen Neuropsychologie und Pädagogik des Williams-Beuren-Syndroms. Lehmanns Media, Berlin, 2008. ISBN 978-3-86541-628-5. | |
dc.relation.isbasedon | JANTZEN, W: Kulturhistorische Psychologie heute: Methodologische Erkundungen zu L. S. Vygotskij. Lehmanns Media, Berlin, 2008. ISBN 978-3-86541-240-9. | |
dc.relation.isbasedon | VYGOTSKIJ, L. S.: Ausgewählte Schriften. Lehmanns Media, Berlin, 2003. ISBN 3-936427-49-6. | |
dc.relation.isbasedon | RIEBER, R. W.; CARTON, A. S.: The diagnostics of development and the pedagogical clinic for difficult children. The collected works of L. S. Vygotsky. Volume 2. The fundamentals of defectology. DOI: 10.1007/978-1-4615-2806-7_20 | |
dc.relation.isbasedon | LURIJA, A. R.: The working brain: an introduction to neuropsychology. Basic Books, New York, 1976. ISBN 97804650920. | |
dc.relation.isbasedon | LURIJA, A. R.: Higher cortical functions in man. Basic Books, New York, 1966. ISBN 978-1-4615-8579-4. | |
dc.relation.isbasedon | GALLESE, V.: Intentional attunement: A neurophysiological perspective on social cognition and its disruption in autism. Brain Research. DOI: 10.1016/j.brainres.2006.01.054 | |
dc.relation.isbasedon | RIEBER, R. W.; CARTON, A. S.: The Problem of Mental Retardation. The collected works of L. S. Vygotsky. Volume 2. The fundamentals of defectology. DOI: 10.1007/978-1-4615-2806-7_19 | |
dc.relation.isbasedon | CRESWELL, J. W.: Research design: qualitative, quantitative, and mixed methods approaches. Sage, Los Angeles 2014. ISBN 1452226105. | |
dc.relation.isbasedon | MRUCK, K.; MEY, G.: Handbuch qualitative Forschung in der Psychologie. VS Verlag, Wiesbaden, 2010. ISBN 9783531167268. | |
dc.relation.ispartof | ACC Journal | en |
dc.relation.isrefereed | true | |
dc.subject | Williams Syndrome | en |
dc.subject | Williams Beuren syndrome | en |
dc.subject | development | en |
dc.subject | neurodevelopmental disorder | en |
dc.subject | basic research | en |
dc.subject | applied science | en |
dc.subject | mixed-methods design | en |
dc.subject | qualitative research | en |
dc.title | Building a competence center for Wiliams Syndrome at The Hochschule Zittau/Görlitz – current research, teaching and Third Mission | en |
dc.title.alternative | Výstavba centra pro Williamsův syndrom v Hochschule Zittau/Görlitz – současný výzkum, výuka a Třetí Mise | cs |
dc.title.alternative | Die Errichtung eines Kompetenzzentrums zur Behandlung des Williams-Syndroms an der Hochschule Zittau/Görlitz – laufende Forschung, Unterricht und Dritte Mission | de |
dc.title.alternative | Budowa centrum Zespołu Williamsa w Hochschule Zittau/Görlitz – obecne badania, nauczanie i Trzecia Misja | pl |
dc.type | Article | en |
local.access | open | |
local.citation.epage | 120 | |
local.citation.spage | 109 | |
local.fulltext | yes | en |
local.relation.issue | 3 | |
local.relation.volume | 24 |
Files
Original bundle
1 - 1 of 1
Loading...
- Name:
- ACC_2018_3_10.pdf
- Size:
- 385.16 KB
- Format:
- Adobe Portable Document Format
- Description:
- článek