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3D morphometric facial analysis in Williams, Noonan and DiGeorge syndrome patients
Čaplovičová, Martina ; Velemínská, Jana (advisor) ; Neščáková, Eva (referee)
The aim of the thesis was to evaluate facial dysmorphism in Williams (WBS), Noonan (NS) and DiGeorge syndrome (DGS) patients and also to evaluate changes in the morphology of the face during growth. In total 57 3D facial scans of patients of all ages were analysed, including 12 WBS, 20 NS, 25 DGS and 31 scans of control subjects. The evaluation has been carried out using methods of geometric morphometry, namely by coherent point drift - dense correspondence analysis, superprojection of mean faces, per vertex t-test and principal component analysis. Statistically significant differences in the facial morphology were shown for all the syndromes vs. control. Observed dysmorphies in WBS (narrow forehead, bitemporal narrowing, periorbital fullness, bulbous and anteverted nasal tip, malar flattening, protrusion of both lips, pointed chin) mostly confirmed existing knowledge of the typical phenotype. The morphology in WBS is thus strongly specific and manifested in most of the patients. During ontogeny, the dysmorphic features associated with increased facial convexity become pronounced, while the other typical features remain relatively stable. In contrast to the control, the retrusion of the chin occurs during the development. Observed dysmorphic traits in NS (less prominent supraorbital ridges,...
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Use of Occupational Therapy in Children with Williams Syndrome up to 15 years
Matoušová, Zita ; Dvořáková, Petra (advisor) ; Kuželková, Anna (referee)
BACHELOR THESIS ABSTRACT Name, Surname: Zita Matoušová Supervisor: Mgr. Petra Dvořáková Consultant: Mgr. Kateřina Rybářová Title: Use of Occupational Therapy in Children with Williams Syndrome up to 15 years Abstract: Williams syndrome also known as Williams-Beuren syndrome is a rare genetic disease caused by microdeletion of chromosome 7. The extensive clinical picture significantly affects the daily life of children with this diagnosis. The care for children with Williams syndrome requires an intervention of a multidisciplinary team, which also includes an occupational therapist. The aim of this bachelor thesis is to define the role of occupational therapist and areas of intervention for children under 15 years of age with Williams syndrome. The theoretical part of the bachelors thesis briefly describes the general issues related to diagnosis, disease prevalence, clinical characteristics, the operations of the association for Williams syndrome in the Czech Republic, treatment and therapeutic options. The aim is to introduce the issue. Subsequently, the work deals mainly with the description of occupational therapy and its application in this rare disease. The practical part of the work contains the elaboration of two therapeutic case reports, on which a possible occupational therapy intervention for a...
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Biological determinants of the origin and development of the opposite psychological and behavioral traits associated with autism spectrum disorders and Williams syndrome
Buriánková, Klára ; Šolc, Roman (advisor) ; Drábová, Jana (referee)
Williams syndrome is a genetical disorder caused by microdeletion on chromosome 7, specifically of 7q11.23 region. Its phenotype is characterized by typical facial features, mild mental retardation, cardiovascular problems (patients often suffer from supravalvular aortic stenosis), gastrointestinal problems and endocrine abnormalities. However, Willimas syndrome is best known for its unique behavioural-cognitive profile which leads to friendly, hypersocial and talkative personality. This specific neuropsychological profile is repeatedly considered to be the right opposite of the psychological profile, which is characteristic for people with autism spectrum disorder. Individuals with autism spectrum disorder often have severe impairments in social interaction, communication and they suffer from social anxieties. This contrasting cognitive-behavioural phenotype inspired many studies to examine possible biological causes, which might determine given personality features. Several results from these studies suggest that small genetical TFII-I family, which lies in the critical Williams syndrome region, could have a significant impact on the extent of personality qualities such as sociality and communication. Key words: Williams syndrome, autism spectrum disorder, duplication 7q11.23 syndrome, TFII-I...
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3D morphometric facial analysis in Williams, Noonan and DiGeorge syndrome patients
Čaplovičová, Martina ; Velemínská, Jana (advisor) ; Neščáková, Eva (referee)
The aim of the thesis was to evaluate facial dysmorphism in Williams (WBS), Noonan (NS) and DiGeorge syndrome (DGS) patients and also to evaluate changes in the morphology of the face during growth. In total 57 3D facial scans of patients of all ages were analysed, including 12 WBS, 20 NS, 25 DGS and 31 scans of control subjects. The evaluation has been carried out using methods of geometric morphometry, namely by coherent point drift - dense correspondence analysis, superprojection of mean faces, per vertex t-test and principal component analysis. Statistically significant differences in the facial morphology were shown for all the syndromes vs. control. Observed dysmorphies in WBS (narrow forehead, bitemporal narrowing, periorbital fullness, bulbous and anteverted nasal tip, malar flattening, protrusion of both lips, pointed chin) mostly confirmed existing knowledge of the typical phenotype. The morphology in WBS is thus strongly specific and manifested in most of the patients. During ontogeny, the dysmorphic features associated with increased facial convexity become pronounced, while the other typical features remain relatively stable. In contrast to the control, the retrusion of the chin occurs during the development. Observed dysmorphic traits in NS (less prominent supraorbital ridges,...
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