|
|
Molecular cytogenetic analysis of mosaic chromosomal abnormalities
Cinkajzlová, Anna ; Kočárek, Eduard (advisor) ; Král, Jiří (referee)
The focus of this diploma thesis is on mosaic numerical and structural chromosomal aberrations. In its theoretical part, general problems of mosaicism, its phenotypic effect, mechanisms of origin, related epigenetic modifications, and diagnostic options are described. The methodical part of the thesis then primarily refers to fluorescence in situ hybridization (FISH) and its application in the diagnostics of mosaicism. This method was used in the examination of 29 patients with numerical as well as structural abnormalities of autosomes or gonosomes with proven or suspected mosaicism. On the basis of this analysis, possible errors of measurement were determined and data for statistic evaluation were retrieved. For the examinations of three patients an alternative of the comparative genomic hybridization, the array CGH technique, was applied. The FISH method, although being based on random selection and human factor, proved sufficient sensitivity as well as specificity in the field of low-frequency mosaicism diagnostics. The main critical factors responsible for potential misinterpretation of the data arose from inherent characteristics of the biological material, incorrect targeting of the analysis, probe instability, bleed through effect and absence of mitosis during the structural aberrations analysis.
|
|
|
Music therapy as a support for student with Down syndrome
Koucun, Jan ; Lipský, Matěj (advisor) ; Pejřimovská, Jitka (referee)
Tato diplomová práce se zabývá úlohou muzikoterapie, jako podpůrného prostředku pro člověka, který potřebuje pomoc na cestě životem. Popisuje průběh a vývoj jednotlivých muzikoterapeutických setkání, jejich dopad na klienta při uvědomování si vlastních hodnot a jejich transformaci do osobního a studentského života. Práce byla vypracována na základě vývoje kazuistiky v čase, rozhovorů a reflexe celé práce. Klíčová slova: Muzikoterapie, Klient, Muzikoterapeut, Hudba, Edukace, Downův syndrom, Mentální postižení Abstract This thesis describing with the role of music therapy as a means of support for someone who needs help along the way. It describes the progress and development of individual music therapy meetings, their impact on the client in recognizing one's own values and their transformation into a personal and student life. The work was developed based on the development of case reports in time, interviews and reflection of the whole work. Keywords: Music therapy, Client, Music therapist, Music, Education, Down syndrome, Mental disability
|
|
| |
|
|
Specifics of adolescence of the children with Down syndrome from their parents view
Tučková, Věra ; Mužáková, Monika (advisor) ; Zemková, Jaroslava (referee)
Title of bachelor work: The specifics of adolescence of the children with Down syndrome from their parents view Abstract The bachelor thesis called The specifics of adolescence of the children with Down syndrome from their parents view deals with the term Down syndrome, its origin and forms. The thesis concentrates in the behavior of the teen age children with Down syndrome. The thesis also touch the problem of sexual abuse of the mentally handicapped children, e.g. also children with the Down syndrome and the problem of the becoming independent of these children. The practical demonstrations show the worries of mothers of the children with Down syndrome and how the worries grow up with children age.
|
|
|
The use of cell-free nucleic acids in maternal plasma for non-invasive prenatal diagnosis of monogenic diseases, placental insufficiency-related complications and Down syndrome
Veselovská, Lenka ; Hromadníková, Ilona (advisor) ; Schierová, Michaela (referee)
Since the discovery of cell-free fetal DNA in peripheral blood of pregnant women, cell-free nucleic acids in maternal plasma are explored in relation to non-invasive prenatal diagnosis of various fetal conditions and pregnancy complications. Non-invasive prenatal diagnosis of monogenic diseases represented by TSC1-linked tuberous sclerosis could be achieved by detection of paternally-inherited mutant allele in the pool of maternal alleles in plasma. Reliability of detection of mutant allele could be improved by simultaneous mutation haplotype analysis or detection of universal fetal marker. None of the 3 methods (allele- specific real-time PCR, SNaPshot minisequencing and quantitative fluorescent PCR) evaluated using artificial mixtures and maternal plasma samples reliably and accurately detected low-frequency allele distinguished by point mutation, SNP or microsatellite in TSC1 gene or in its close proximity. We developed a strategy for prediction of proportion of informative couples for panel of SNPs of interest that can be applied to any monogenic disease. Exploiting differential methylation of promoters of genes RASSF1A, HLCS and OLIG2 in maternal and fetal genome, we failed to establish functional fetal marker. MicroRNAs of placental origin released into plasma could serve as biomarkers of...
|
|
|
Practical life exercise for preschool-age children with Down syndrome (Montessori Education)
HELLEROVÁ, Petra
The Bachelor's thesis focuses on practical life exercises for preschool children with Down syndrome; that is, Montessori education. It is divided into a theoretical and a practical part. The first chapter of the theoretical part concentrates on alternative education, or more precisely, on alternative schools. The second chapter deals with the life and activities of Maria Montessori, the founder of one of the alternative schools. The third chapter then addresses the Montessori education and Montessori schools. The fourth chapter examines development of a preschool child. The fifth chapter discusses school maturity and school readiness of a child. The sixth chapter then in more detail describes children with Down syndrome. The last chapter of the theoretical part is focused on preschool institutions in the Czech Republic following the principles of the Montessori education. It also mentions the relationship between Montessori education and Montessori therapy. The practical part of the Bachelor's thesis was carried out using qualitative research method. The research survey was conducted in the Children's Centre Pomněnka in České Budějovice from September 2015 to March 2016. The information and data needed for the research were gathered by observations of girls with Down syndrome and also by a semi-structured interview with the centre's pedagogical employees. The data analysis method was used to process the obtained data. The main aim of the thesis was to determine in which way the practical life exercises (according to Maria Montessori's principles) can support the development of children with Down syndrome. Subgoals and research subquestions were specified in order to achieve the set aim. The research showed which activities are the most difficult for the girls with Down syndrome in the Children's Centre Pomněnka. Based on these findings, new and adapted aids were created that are helpful in practical life. The research also proved that these aids are beneficial to the girls with Down syndrome, especially to their autonomy and self care. Mostly, such aids develop motor skills, improve the eye-hand coordination and also influence child's thinking, attention and patience. During research, some factors that have a significant impact on the activities of the girls with Down syndrome were observed, such as tiredness, current mood, motivation and readiness of the surroundings. It is necessary to pay attention to these factors and this way support the performance of such children and their ability to concentrate. The practical use of these newly created aids show that they fulfil their intended purpose and that they are helpful in practical life according to principles and methods of Montessori education. Both adapted aids, which were made based on this Bachelor's thesis, will remain in the Children's Centre Pomněnka in České Budějovice and will be available for the children. The Bachelor's thesis can also provide information to parents, pedagogical workers, educators or students of pedagogy and to educate them in the issue of daily life exercises of the Montessori education.
|
|
|
Integrating children with Down syndrome into mainstream education.
KOŠŤÁLOVÁ, Romana
The Thesis focuses on integration of pupils with Down syndrome into the mainstream education. First part of the Thesis describes specific signs and symptoms of Down syndrome. The early care after birth and during preschool age is commented and the general options for school education are presented. Next, the Thesis compares the trends in school integration and inclusion of children with Down syndrome in the Czech Republic and abroad. Last part of the Thesis is devoted to more detailed description of the school integration system practiced in Czech Republic. The meaning and significance of inclusion are discussed, together with suitable conditions versus potential obstacles and problems.
|
|
|
Automated Measurement of Ultrasound Markers of Congenital Fetal Abnormalities
Szpyrc, Bogdan ; Kolář, Radim (referee) ; Provazník, Ivo (advisor)
This work deals with displaying and measuring ultrasonic markers of congenital defects of the fetus in first trimester of pregnancy. Background research of ultrasonic markers was based on the studies of prof. Kypros Nicolaides (Great Britain), the president of the Fetal Medicine Foundation. This work contains a brief description of diagnosing of congenital defects during all three trimesters, and lists in detail defects that can be diagnosed properly during first trimester, as well as methods of calculating the risk of chromosomal abnormalities. In the next parts of this work, there are descriptions of methods used to improve results while measuring nuchal translucence (NT) strongest marker of Down syndrome in first trimester. The imaging capabilities of ultrasound devices were tested. Using scanned images, the influence of different display parameters on the resolution could be determined. Furthermore, using recommendations of the FMF, algorithms for adjusting correct slice of fetus and automatic measurement NT were designed and tested. A program application was designed that enabled testing of those algorithms on real images and calculating risks of chromosomal abnormalities from CRL and NT value. Designed algorithms were tested on real images. The program application, in witch the algorithms for measuring NT (NT detection algorithms) are included, was created.
|
|
|
Montessori's Aid as a Tool to Support Graphomotorics Development of Preschool Child with Down Syndrome
KAMENICKÁ, Petra
This bachelor thesis adresses the theme The Montessori teaching aid as an instrument to support graphomotoric developement of a preschool child with Down syndrome. The theoretical part of the thesis is divided into four chapters. The first chapter focuses on individuals with Down syndrome. The second chapter deals with the developement of a preschool child and specifically with the developement of a preschool child with Down syndrome. The third chapter describes in great detail the principles of the Montessori programme. The last chapter focuses on the Montessori facilities for preschool children in the Czech republic. The main goal of the thesis was to find out in which ways can an adapted teaching aid made by the principles of Marie Montessori help develop the graphomotoric skills of preschool children with Down syndrome. The first partial goal was to find out, through interviews with teachers, which part of the Montessori material it would be suitable to elaborate on. Another partial goal was to analyse the process of the work of the children with M. Montessori´s original teaching aid for developing graphomotoric skills. The third partial goal was focused on the production of an adapted teaching aid made by the principles of M. Montessori that would improve the graphomotoric skills of children with Down syndrome. The fourth goal was to field test the aid . In agreement with the four goals, four research questions were set. To reach the estabilished goals the technique of a qualitative research was used. The methods of a semi-constructed interview with the teachers in the Montessori Children's Center, involved observation and individual work with girls with Down sydrome were used to collect the data for the practical part and finally the method of a secondary analysis of document data containing the work directions to original Montessori equipment for graphomotoric skills developement was used. The research took course from January to April 2015 in the Montessori Children's Center in České Budějovice. Two preschool girls with Down syndrome and three teachers from the Montessori centrum whom i had interviewed were in the target group. The results of my bachelor thesis are original handmade teaching aids based on the M. Montessori pedagogic principles whose aim is to help develop the graphomotoric skills of preschool children. The first aid is a pack of sixteen cards with graphomotoric elements. This aid is desined to properly fixate the shapes of graphomotoric elements and can serve as a first step in learning how to write capital letters. The second aid is desined to help develop the proper grip and is made in two modifications. These modifications differ in the type of material that the child puts into an egg box. Both aids fulfil the principles and policies of the Montessori programme. It was found out through observation that both of the handmade aids helped develop the estabilished categories mastering the pincer grip, improvement of the orientation on a surface, they contributed to the relaxation of the hand and it was possible to gain the proper ideas about the shapes of graphomotoric elements through them. The results of the experimental research show that the teaching aids were benefitial for the girls. The girls worked with the teaching aids systematically, following estabilished principles and everytime they finished the work they had started. Working with the first aid they gained an awareness about shapes of graphomotoric elements using their sight and touch. The second aid helped them to develop the proper pincer grip and to improve their tactile sensation. Both aids also helped to improve the ability of the girls to orient on a work surface.
|
|
|
Social work with a family where a child with Down syndrome lives
SCHMIDTOVÁ, Kateřina
This bachelor thesis deals with social work with family caring for Down syndrome child. Its target is to describe possibilities and benefits of social work for family a Down syndrome child was born into. This thesis defines Down syndrome, describes changes in family life caused by the delivery of Down syndrome child. Also it describes social services suitable for family caring for Down syndrome child. The conclusion consists of family cases which should complete the theoretical knowledge for better understanding this situation.
|
guest ::
