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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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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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Educational Specifics of children with rare disease in special need school
Krejčí, Lucie ; Hájková, Vanda (advisor) ; Zemková, Jaroslava (referee)
This diploma thesis is focused on education specifics of children with a rare disease at a special primary school. In the theoretical part, the author describes three specific rare diseases - mucopolysaccharidosis, Prader-Willi syndrome and Smith-Magenis syndrome. Deals with the manifestations of the disease, treatment options and the arrangement of the education for these children. In the practical part the author inquires how teachers work with a child with a rare disease during the day at special primary school. The thesis also inquires what specifics the educational process brings to teachers and where do the teachers find the sources for their methods of work.
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Advantages and disadvantages of membership of organizations in the Czech Association for Rare Diseases (CAVO)
Stránská, Markéta ; Navrátil, Jiří (advisor) ; Moree, Dana (referee)
In my work, I want to focus on the perceived advantages and disadvantages of membership in the umbrella organization. This topic, I will discuss from the perspectives of the member organizations. This is a specific segment associations - the patient organizations focused to patients with rare diseases. It is clear that cooperation in the umbrella organization brings advantages, but it is probable that it can also bring some disadvantages. For my work I choose the Czech Association for rare diseases. In the Czech Republic is the only organization in the civil sector, focusing exclusively on rare diseases. The goal of the master thesis is to find out the perceived advantages and disadvantages, and how it is related to the level of activity of members of the umbrella organization. Further, I want to compare the data with the theoretical literature in order that differs. Theme of umbrella in the Czech Republic is almost unexplored. There are only a few expert papers in this area. That's why I decided to focus on cooperation in civil sector (organization focus on rare diseases), which is relatively unknown. Keys words: advantages of cooperation, disadvantages of cooperation, rare disease, advocacy function, information function, umbrella organizations, patient organizations, Czech Association for Rare...
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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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