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Suburban camp as a means of developing social integration of children with disabilities
UHLÍKOVÁ, Barbora
The diploma thesis deals with the topic of integration of children with special educational needs in general, in educational system and leisure activities. From leisure activities, was chosen the theme of a suburban summer camp. The theoretical part deals with free time and possibilities of leisure activities, before 1989 and after 1989. It also describes the possibilities of integration of children with disabilities and examines the question: "What are the opportunities / possibilities of integration of children with special educational needs into society? " The practical part describes the suggestion, preparation and implementation of a five-day suburban camp project for six children divided in two groups. There was one child with special educational needs in each group: in the first group, there was a boy with Down syndrome; in the second group, a boy in a wheelchair. The project was exacting but successful. In addition to the camp project, in the practical part there is a chapter deals with interviews with parents or close children, who were involved at this camp and also with a volunteer from Salesians who have experience with the integration of children with special educational needs.
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Optimization of digital polymerase chain reaction for application in non-invasive prenatal diagnostics
Šenkyřík, Pavel ; Korabečná, Marie (advisor) ; Vodička, Radek (referee)
Digital PCR (Polymerase Chain Reaction) is a method that enables absolute quantification of DNA sequences and therefore finds application in many diagnostic disciplines. We focused on the diagnosis of trisomy 21, which manifests itself as Down syndrome. Information about the fetal genome can be obtained from free fetal DNA that is released into the mother's bloodstream from the placenta during pregnancy. In the first trimester, fetal DNA constitutes approximately 5-10% of free DNA and is therefore a suitable target for non-invasive prenatal testing (NIPT). However, we need a technique that is able to distinguish this relatively small fraction of free fetal DNA and differentiate it from free maternal DNA. Precisely digital PCR provides various ways to achieve this goal thanks to its wide multiplexing possibilities. We focused on optimizing the multiplex reaction, which in one fluorescence channel distinguishes the number of copies of the reference chromosome 18 and the observed chromosome 21. The resulting determination of this ratio provides us with information regarding the balance between the chromosomes and can thus confirm or refute the presence of a trisomic fetal fraction. We tested the usability of the proposed method for clinical application by examining DNA samples isolated from 25 plasma...
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Development of communication ability in children with Down syndrome
Vašutová, Tereza ; Korandová, Zuzana (advisor) ; Klenková, Jiřina (referee)
The bachelor's thesis, Development of communication ability in children with Down syndrome, is a work of special educational nature aiming to acquaint readers with the issue of communication in children with Down syndrome. The theoretical part is based on Czech and foreign literature analysis and information found in electronic sources. It is divided into two chapters. The first chapter is dealing with communication in general and the development of speech and language skills in intact children. The second one is devoted to Down syndrome, the author is dealing with its definition terminology and etiology. It also elaborates on impaired communication skills of children with Down syndrome, speech therapy intervention and alternative and augmentative communication. The empirical part of this bachelor thesis is included in the third chapter. The main goal of the research is to analyze the development of communication ability in children with Down syndrome, partial goals and research questions have been set based on that. Set goals were achieved thanks to a research survey of a qualitative nature using the following methods: analysis of anamnestic data, analysis of available documents, additional semi- structured interviews with parents and observations. The outcome of this research is the elaboration...
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Inclusive summer camp and its significance for intact participants
Saaková, Johanna ; Hájková, Vanda (advisor) ; Zemková, Jaroslava (referee)
SAAKOVÁ, Johanna. Inclusive summer camp and its importance for intact participants. Prague: Pedagogical Faculty of Charles University, Department of Special Education, 2022. 121 pages. Thesis. The thesis deals with the operation of an inclusive summer camp, which is attended by intact children and siblings of children with disabilities, in addition to children with autism spectrum disorder, intellectual disabilities and Down syndrome. The thesis mainly deals with the programme during the week-long stay at the camp and also focuses on interviews with the intact participants. The aim of this thesis is to analyse the preparation, implementation and subsequent detailed description of the inclusive summer camp and also to analyse its impact on the child participants. In my thesis I would like to test the hypothesis that children at the inclusive camp in Bukova get everything they expect from it (quality program, friends, fun, safety, trust in leaders, etc.) even if there are children with disabilities who require a lot of care and attention from other adult leaders and assistants. The thesis is divided into theoretical and practical parts. The theoretical part is divided to six chapters. The first one characterizes the concept of Inclusion. The second chapter deals with the family with a child with a...
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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.
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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...
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Individual training of a girl with Down syndrome in the fitness center
Mihoučová, Kateřina ; Vařeková, Jitka (advisor) ; Strnad, Pavel (referee)
Title: Individual training of a girl with Down syndrome in the fitness center Background: Down syndrome is a genetic disease caused by trisomy of 21 chromosome, associated with cardiovascular and metabolic disorders, mental retardation and specific essential characters. Due to common obesity and cardiovascular risks it is important to seek the optimal form of physical exercise as well as possible nutrition options. Objective: The aim of this work is to evaluate the influence of long-term exercise intervention in a girl with Down syndrome. Methods: Qualitative research was undertaken as a case study on compensation of muscle imbalance of a 23-year-old girl with Down syndrome. In this work, we used the observation, functional tests on postural and phasic muscles with photo documentation. Through the conversation we got feedback on the motion training from the perspective of a mother. Results: On the basis of the initial examination there was established the individual training plan in a series of regular motion lessons in Contours fitness center. Lessons were focused on an improvement of all muscle imbalances, increase of physical ability, mental well-being, and last but not least to support integration. The involvement of the girl with Down syndrome into individual training was possible and...
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