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Autism - Application alternative and augmentative communication systems at the individuals with pervasive development disorders
Vošická, Edita ; Zemková, Jaroslava (advisor) ; Novotný, Josef (referee)
This diploma thesis deals with alternative and augmentative communication systems using at the individuals with pervasive development disorders. Thesis is divided the theoretical and the experimental part. Theoretical part contains mainly informations about communication disability, speech development, diagnosis of communication abilities, alternative and augmentative communication systems and possibilities of aid to the families with child with pervasive development disorder. Experimental part presents research using questionnaire, which was send to the parents or legal representatives with child with pervasive development disorder. The research prepares base for next extensive researchs.
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Molecular Genetic Analysis in Patients Suspected of Cryptic Rearrangements.
Šolc, Roman ; Hirschfeldová, Kateřina (advisor) ; Vícha, Aleš (referee)
Such chromosomal rearrangements, which cannot be detected by using of cytogenetic banding of metaphase chromosomes, i.e. chromosomes smaller than 3 - 5 Mb, and therefore modern molecular genetic methods are used to detect them, are called "cryptic rearrangements". Their important role in human pathology is more and more significant. By using of the multiplex ligation-probe dependent amplification method (MLPA) we examined a group of 50 probands with idiopathic mental retardation. A cryptic rearrangement was found at 8 probands (16 %), at 6 of them it was demonstrably causal. Then we examined a group of 40 probands suspected of gene SHOX pathology. A cryptic rearrangement was found at 17 probands (42.5 %) and at 8 of them it was demonstrably causal. Presence of small deletion founded isolated at 7 probands was verified in a population set, but without a positive result. An analysis of mutations was made too.
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Substitute Family Care - The Importance and Benefits of Foster Care
Válečková, Pavla ; Šotolová, Eva (advisor) ; Mlčková, Marie (referee)
This work is focused on the evaluation and verification of the criteria of success foster care on the basis of their own experience. Affects the overall trend of the development of the child in the context of the family and the wider society. The key theme of this study is, above all, approach the importance and advantages of foster care, or clarify so much discussed questions of education of children in substitute family environment in terms of celospolečenského scale. To achieve the desired outcome here were used not only to their own knowledge and experience, which are processed in the individual kasuistikách, but also the conclusions of the expert examination of pedagogical-psychological counseling and specially-educational centre. The thesis has been processed on the basis of personal long- standing observation and study the behaviour of children in foster care, which are pursued and carried out directly in the family of the author thesis. Total of pattern 8 children, which over time have been adopted into the family of the author, and this was how the children of different sexes, different ethnic origin, different state of health and, not least, of the individual and the sibling group. For all of these children have been possible directly in practice to monitor their development and progress,...
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Comprehensiveness and Continuity of Services for Individuals with Disabilities
Lelková, Tereza ; Šťastná, Jaroslava (advisor) ; Kodymová, Pavla (referee)
Key words: Disability, mental retardation, social services, comprehensiveness, continuity, availability. Abstract (in English): The aim of the diploma thesis is to map the needs of persons with disabilities with a focus on persons with mental retardation from birth until the end of their life and also quantity, diversity and quality of social services with emphasis on continuity and comprehensiveness in the former district town of Rychnov nad Kneznou. In this thesis, I will focus on the challenges and needs of families in which a child with disabilities was born and the amount of support and care that the child received in the past and gets in the present. Also, I point out the difficulties associated with the availability of social services for people with disabilities and their families in a village located 20 km from the district town or regional town. In the practical part, I perform empirical investigation of families with children with disabilities where some of them will come from the district town and the surrounding area and some of them from more isolated parts of Rychnov region.
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Pathological findings in pediatric patients detected by array-CGH
Šlégrová, Sandra ; Krkavcová, Miroslava (advisor) ; Panczak, Aleš (referee)
The thesis focuses mostly on discovering unrevealed causes of pathologic phenotype symptoms of patients with whom no pathologic changes in genetic material were detected by common cytogenetic methods. All samples were examined by a chip method array-CGH (comparative genomic hybridization) which detects aberrant spots without any knowledge of where they are located in the genome. In some cases the method was used to verify or specify the finding that was diagnosed during previous genetic testing. The patients were examined by this method in an accredited genetics laboratory GENvia, s.r.o. in 2013 and partly also in 2014. The theoretical part of the thesis focuses on the role of the common cytogenetic method and its diagnostic use. I also describe the basic principle of the array-CGH method and its use in prenatal and postnatal diagnostics. The practical part of the thesis describes results of all examined patients. But mostly it focuses on pediatric patients where the diagnosis correlates with their clinical symptoms. All the results were verified by another method used for the particular diagnosis. Some results were verified by FISH (fluorescence in situ hybridization) method, other ways of the results verification are described as well. In total 8 pathologic findings were discovered in patients up to 12...
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The Supporting Educational Programs for Children with Down Syndrome
Smolíková, Andrea ; Ortová, Marie (advisor) ; Klípová, Eva (referee)
The present work deals with the education of children with Down syndrome in support of educational methods that help children in a meeting the national curriculum in education. The aim is to describe the selected support educational programs in theoretical and practical compared with the implementation of the programs. The theoretical part defines and characterizes mental disability, mental retardation and try to briefly define the difference between the terms. It also describes Down syndrome - its origin, forms, physiognomic and anatomical manifestations. Then describes the education of children with intellectual disabilities in the state education system, which includes educational programs, also in special education. The paper characterizes education programs for preschool, elementary and Annex for pupils with mild mental disabilities. The last chapter describes the practical part has been selected supporting educational programs - the method of global reading, reading and confluent Feuersteins method of instrumental enrichment. Individual characteristics include the circumstances of the method, the target, as with the method works in practice. The practical part describes how to find and observations of each method and compared with the theoretical part.
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Dramatherapy for people with mental disabilities
Klausová, Markéta ; Valešová Malecová, Barbara (advisor) ; Šiška, Jan (referee)
This bachelor thesis deals with the use of dramatherapeutical techniques when working with persons with mental disabilities. The work includes the problematic of mental retardation, and defines dramatherapy and its techniques in its work with persons with mental disabilities. The aim of this work is to present a specific proposal dramaterapeutical program for persons with mental disabilities, which is focused on the emotional experience.
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Activation centres - lifelong learning of adults with mental disability
Máchová, Michaela ; Zemková, Jaroslava (advisor) ; Novotný, Josef (referee)
The master thesis deals with the problem of lifelong learning of adults with mental disability in Activation Centre courses. The aim of this thesis is to introduce the pilot project of Activation Centres as one of the lifelong learning posibilities for adults with mental disability. The mental retardation and adulthood of people with mental disability are briefly defined. The common system of education of people with mental disability in the Czech Republic is described with the emphasis on crucial area of lifelong learning. Activation Centres are defined in detail. The survey, which is monitoring the circumstances of existing education in Activation Centres from the lecturers'and methodists'point of view, is introduced in the conclusion. An essential part of this thesis comprises of the interviews with courses participants themselves. Keywords Mental retardation, adulthood, education, education of people with mental disability, lifelong learning, Activation Centre, quality of life.
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Analysis of copy number variant (CNV) in genomes of patiens with mental retardation
Hančárová, Miroslava ; Sedláček, Zdeněk (advisor) ; Gaillyová, Renata (referee) ; Michalová, Kyra (referee)
Mental retardation (MR) is a very heterogeneous common neurodevelopmental disorder with a population prevalence of 2.5-3 %. The importance of genetic factors in the development of MR is high but in a significant number of cases the etiology remains unexplained. Recent studies using array methods pointed to frequent occurrence of copy number variants (CNVs) in patients with MR. Pathogenic CNVs were identified in 10-15 % patients with idiopathic MR and normal karyotype. The aim of our work was the analysis of genome-wide gains and losses of genetic material in a group of Czech patients with MR and a thorough bioinformatic analysis of the genetic changes identified aiming at the assessment of their clinical significance. We performed whole genome analysis using the HumanCytoSNP-12 BeadChips (Illumina) in 183 patients with idiopathic MR, normal karyotype and no FMR1 gene expansion. Data analysis was carried out using two independent programmes, GenomeStudio and QuantiSNP. The findings were subjected to two rounds of thorough bioinformatic analysis. Based on this analysis we classified the CNVs into 4 categories: pathogenic CNVs, probably pathogenic CNVs, CNVs with uncertain clinical significance and benign CNVs. With the exception of the benign variants, all CNVs were confirmed using an independent laboratory...
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Utilization of art therapy methods and techniques in social services for mentally disabled people
Matějíčková, Lucie ; Havránková, Olga (advisor) ; Vodáčková, Daniela (referee)
The Diploma Thesis "Utilization of art therapy methods and techniques in social services for mentally disabled people" deals with topic of art therapy and its elements which are used while working with mentally disabled people. The thesis defines the term art therapy and describes art therapy methods and techniques which are used in social services for mentally disabled people. Object of the thesis is to ascertain to what extent art therapy methods and techniques are utilized while working with mentally disabled people and whether these methods and techniques help to develop mentally disabled people. The theoretical part of the thesis defines the term art therapy and its position in a system of coordinated rehabilitation. It also describes the history of art therapy, its forms and possibilities of utilization of colors in art therapy. The other part of the theoretical part defines mental retardation and its classification and social services for mentally retarded people are described here as well. In the end, the theoretical part is devoted to art therapy methods and techniques. The practical part of the thesis deals with two researches. The quantitative one which was performed with mentally retarded people ascertains whether mentally retarded people like using art therapy methods and techniques...
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