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Family of child with Kabuki synrome
Jarošová, Kateřina ; Mužáková, Monika (advisor) ; Bartoňová, Miroslava (referee)
The thesis deals with the family of a child with Kabuki syndrome. In the Czech Republic, the diagnosis was established in 2010. The main objective of the thesis was to compile comprehensive information about the family of a child with Kabuki syndrome and to determine more detailed information about the functioning of this family in the areas of upbringing, experiences with the school system, and also the utilization of support by the family. The thesis is divided into theoretical and empirical parts. The theoretical part is divided into four chapters. The first chapter discusses the definition of Kabuki syndrome, the history of research on this rare condition, diagnosis, and characteristic features in individuals with Kabuki syndrome. The second chapter focuses in more detail on the clinical symptoms of Kabuki syndrome, from health issues and treatment options to levels of cognitive function. The third chapter specifies on families of children with rare diseases, and the following chapter discusses the possibilities of support for families of children with Kabuki syndrome. The empirical part consists of a research investigation focusing on a child with Kabuki syndrome, the family of the child, and the functioning of the family through semi-structured interviews and a case study.
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Family of child with Kabuki synrome
Jarošová, Kateřina ; Mužáková, Monika (advisor) ; Bartoňová, Miroslava (referee)
The thesis is about a family of a child with Kabuki syndrome. The first chapter deals with the syndrome itself, diagnosis, clinical symptoms and cognitive functions. The second chapter describes the family with the rare condition, the family in the context of the history and what stages the family of the child with the rare condition goes through. The next chapter discusses support for the family with a rare disease, and also includes the concept of a non-profit organization and an association. The practical section explores the family of an individual with Kabuki syndrome, and includes an interview with a family member. The research section is supplemented with a case study.
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Quality of life of a child with a rare skin disease
KOUBOVÁ, Michaela
This diploma thesis deals with a rare skin condition called Ichthyosis which is, for the majority of the population, unknown. It is a rare genetic disease that is manifested via a different skin look and a bad bodily thermoregulation. The aim of this thesis is to map out the specific needs in the lives of children suffering from this disease and to point out the aspects of life quality for children thus diagnosed and their families, too. The theoretical part deals with the history, diagnosis, symptom description, the causes of origin as well as care for an individual suffering from this illness. To fulfil the aims of the practical part qualitative research was chosen in the design of a case study focused on a description of complex care and subjective understanding of quality of life in addressed individuals suffering from the given illness and their families.
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How a familys lifestyle changes after one of its members acquires a neurological disability.
BÖHMOVÁ, Michaela
The diploma thesis focuses on lived experience of parents that have a child with a serious illness and acquired disability. Using the phenomenological interpretive analysis, I pointed out the impact of the child's illness not only on the lifestyle of the family, but also on its own change along with a view on quality of life. I will also describe the journey of several mothers from the diagnosis through the necessary and life-threatening adequate treatment to the return to normal life. Despite the very demanding care of a sick child, all respondents had to go through a period of reconciliation and settlement with the child's diagnosis over time.
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Person with Teacher Collins syndrom in context with coordinated care and quality of life, case study
KOUBOVÁ, Michaela
Bachelor thesis deals with the issue of Treacher Collins syndrome. Treacher Collins Syndrome is a rare genetic disease that is distinctly manifested by deformities in the face. Due to the different appearance and ignorance of the syndrome, it is difficult, for the public, to integrate individuals into society. These factors impede the mental well-being of both the individual and his family. This work is divided into theoretical and research part. In the theoretical part, the subject of this syndrome is elaborated based on relevant sources, so that the reader be well versed in this issue. It deals with the definition of Treacher Collins syndrome, its history, description of symptoms, and causes. The thesis also mentions methods of prenatal diagnosis and the development of such an individual. The next part focuses on comprehensive care of individuals. It includes special pedagogical care, health and social care. It deals primarily with the education of individuals, surgical interventions, compensatory aids, and the integration of individuals with Treacher Collins syndrome into society. The research part consists of a case study of a specific individual with Treacher Collins syndrome and his family. This part has been aimed to obtain and process information concerning the state of health, personal and family case history, available medical care, education, interests and life quality of the individual and his family. An in-depth interview and analysis of specific documents were used to obtain data. The research revealed a lot of interesting information. It turned out that the quality of life is influenced by levels of parental competencies, quality of health care, and the functionality of integration into the education system.
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Quality of life in patiens with cystic fibrosis
Šebková, Iveta ; Mádlová, Ivana (advisor) ; Raudenská, Jaroslava (referee)
Bachelor thesis "Quality of life in patients with cystic fibrosis" deals with difficulty about living with this diagnosis. The work is divided into theoretical and empirical part. The theoretical part describe disease cystic fibrosis and deals with the clarification of basic terms related to this disease, symptoms and treatment. Empirical part is processed on the basis of quantitative research using of short version WHOQOL - BREF questionnaire, which we have changed for needs of our thesis and filled in with question of our construction. Goal was to find out impact of this desease on profesional and personal live of our respondent, evaluate the level of quality of their life and satistfaction with care. Findings and evaluation defined goals are at the end of thesis.
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Education for girls with Rett syndrome
Vácová, Zdeňka ; Zemková, Jaroslava (advisor) ; Šumníková, Pavlína (referee)
The aim of this work is to enable a person to perceive and understand the specific features of behaviour of girls having Rett syndrome and to offer effective options for activities and effort in the process of education. The substance of the collection of suggestions and proposals for actions and activities as well as tools and equipment sorted according to equipment and objects used at a special needs education primary school. Practical advice, recommendations and suggestions are based on theoretical grounds and basis, particular examples or photo documentation. The work is founded on study cases of two girls with Rett syndrome where there are not only the girls' results and evaluations in the educational process described but also the personal stories of their families and different way of dealing with the tough life situations. The work results enable to discover a suitable attitude not only towards the girls but as well to their parents, siblings or classmates. KEYWORDS rare disease, Rett syndrome, mental disorder, communication, upbringing, education, general regularities, practical activities and actions, case study
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