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Needs and Experience of Families with Child Suffering from Spinal Muscular Atrophy - Current Situation and Challenges for Social and Health Care System in Czech Republic
Schagererová, Iveta ; Štegmannová, Ingrid (advisor) ; Tichá, Růžena (referee)
Situation of families in which a child with spinal muscular atrophy was born, is the topic of this thesis. This rare genetic disease affects neuromuscular system of children and shortens their lives. In most severe cases the failure of respiratory functions comes in the first year of child's life. This thesis is focused on support that Czech system of social and medical services provides to families with this disease. Next, it looks into needs of these families and examine the extent to which the system is able to saturate them. Very important point in this research is also families' perception of quality of care. The research was implemented with use of qualitative methods, mostly by semi-structured interviews which followed families' journey through the system of social and medical services. Then there is a comparison of experience of families with theories, policy and other normative framework and suggestion of steps that should be taken to improve families' satisfaction with services they receive concerning the child's disease. Key words: spinal muscular atrophy, rare diseases, patient's autonomy, patient- centered care, patient journey, quality of care.
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Respiratory physiotherapy affects the quality of life of children with spinal muscular atrophy - How, when and why?
Havlištová, Michaela ; Smolíková, Libuše (advisor) ; Zounková, Irena (referee)
Bibliographic identification HAVLIŠTOVÁ, Michaela. Respiratory physiotherapy affects the quality of life of children with SMA - how, when and why? Prague: Charles University, 2nd Faculty of Medicine, Department of rehabilitation and sport medicine, 2012. 81 p. Supervisor Doc. PaedDr. Libuše Smolíková, Ph. D. Annotation This thesis deals with the influence respiratory function in children with spinal muscular atrophy (SMA). The theoretical part provides an overview of respiratory physiotherapy techniques that can be used in the care of the airways in people with SMA. The practical part deals with the question whether it is possible using the selected techniques of respiratory physiotherapy after six weeks of training to affect ventilatory parameters in children with SMA. The group of six probands with SMA I. - III. type in the range of the age from 3.5 to 12 years participated in this study. To objectively assess changes was performed spirometry efore the beginning of the therapy and after its conclusion. The main therapy was daily training with inspiratory breath simulator CliniFlo. After the finishing of therapy there was a positive change in all measured parameters except for vital capacity (VC) and maximal expiratory flow at 75% of FVC (MEF75), where the values didn't change. Statistically significant...
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Selected methods of therapeutic rehabilitation in spinal muscular atrophy
Nosková, Petra ; Ježková, Martina (advisor) ; Zounková, Irena (referee)
The bachelor's thesis "Selected methods of therapeutic rehabilitation in spinal muscular atrophy - a research paper" deals with the issue of a progressive neurodegenerative disorder in spinal muscular atrophy (SMA) with the focus on therapeutic rehabilitation. Due to the lack of causal treatment in the present time, therapeutic rehabilitation holds a crucial position. The main part of the thesis consists of a brief overview of the existing knowledge of the SMA disorder, the principles of prevention and therapy of the most frequent musculoskeletal difficulties of patients, as well as an overview of selected methods of therapeutic rehabilitation, appropriate in this disorder. The most frequent musculoskeletal difficulties of the SMA patients include: development of scoliosis, contractures and luxation of hip joint. In the overview of methods and concepts appropriate in patients with SMA, selected methods and concepts based predominantly on neurophysiologic principle and options for respiratory rehabilitation were listed. The thesis is supplemented with the casuistry of a patient with the third type of SMA.
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Role of family in particular life phases of the people suffering from spinal muscular atrophy
Frenclová, Tereza ; Hájková, Vanda (advisor) ; Němec, Zbyněk (referee)
The thesis deals with the role of a family in particular life phases of a person suffering from the rare disease, spinal muscular atrophy. There are three main parts. The first one defines the term family, namely its system, features and functions, and explores the particularities of a family living with a handicapped member. The second part focuses on the spinal muscular atrophy, primarily on the development objectives of individual life phases of the people suffering from the disease. Thirdly, there is a section aiming at describing the role of the people taking care of the people challenged by spinal muscular atrophy from the early childhood to the middle adulthood. Furthermore, the diploma thesis points out the effort of these people to become independent and live their lives to the fullest with the help of care assistants, partners as well as start their families. For a better comprehension of the situation, there have been made semi-structured interviews with twelve families with a member of various age suffering from spinal muscular atrophy, inquiring not only the challenged persons, but also their parents and siblings.
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Needs and Experience of Families with Child Suffering from Spinal Muscular Atrophy - Current Situation and Challenges for Social and Health Care System in Czech Republic
Schagererová, Iveta ; Štegmannová, Ingrid (advisor) ; Tichá, Růžena (referee)
Situation of families in which a child with spinal muscular atrophy was born, is the topic of this thesis. This rare genetic disease affects neuromuscular system of children and shortens their lives. In most severe cases the failure of respiratory functions comes in the first year of child's life. This thesis is focused on support that Czech system of social and medical services provides to families with this disease. Next, it looks into needs of these families and examine the extent to which the system is able to saturate them. Very important point in this research is also families' perception of quality of care. The research was implemented with use of qualitative methods, mostly by semi-structured interviews which followed families' journey through the system of social and medical services. Then there is a comparison of experience of families with theories, policy and other normative framework and suggestion of steps that should be taken to improve families' satisfaction with services they receive concerning the child's disease. Key words: spinal muscular atrophy, rare diseases, patient's autonomy, patient- centered care, patient journey, quality of care.
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Case report of physiotherapeutic care of patient with spinal muscular atrophy.
Saifrová, Tereza ; Brabencová, Hana (advisor) ; Hájková, Marie (referee)
Title: Case report of physiotherapeutic care of patient with spinal muscular atrophy. Summary: This thesis is devoted to the topic of spinal muscular atrophy, with the code of diagnosis G12.1. The general part summarizes the information and knowledge about this disease which I have drawn primarily from foreign literary sources with the earliest year of publication 1995. I focus on etiology of particular disease, clinical features of affected patients, the complications which are connected with this disease and treatment options. The second, special part of this project comprises a case report of physiotherapeutic care of patient with spinal muscular atrophy. Case report was created during month-long Bachelor's practice at the Centre of treatment of musculoskeletal system in Prague, Vysočany and lasted from 21. 1. to 15. 2. 2013. Key words: Spinal muscular atrophy, neuromuscular disorders, SMN gene, case report, physiotherapy
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Respiratory physiotherapy affects the quality of life of children with spinal muscular atrophy - How, when and why?
Havlištová, Michaela ; Smolíková, Libuše (advisor) ; Zounková, Irena (referee)
Bibliographic identification HAVLIŠTOVÁ, Michaela. Respiratory physiotherapy affects the quality of life of children with SMA - how, when and why? Prague: Charles University, 2nd Faculty of Medicine, Department of rehabilitation and sport medicine, 2012. 81 p. Supervisor Doc. PaedDr. Libuše Smolíková, Ph. D. Annotation This thesis deals with the influence respiratory function in children with spinal muscular atrophy (SMA). The theoretical part provides an overview of respiratory physiotherapy techniques that can be used in the care of the airways in people with SMA. The practical part deals with the question whether it is possible using the selected techniques of respiratory physiotherapy after six weeks of training to affect ventilatory parameters in children with SMA. The group of six probands with SMA I. - III. type in the range of the age from 3.5 to 12 years participated in this study. To objectively assess changes was performed spirometry efore the beginning of the therapy and after its conclusion. The main therapy was daily training with inspiratory breath simulator CliniFlo. After the finishing of therapy there was a positive change in all measured parameters except for vital capacity (VC) and maximal expiratory flow at 75% of FVC (MEF75), where the values didn't change. Statistically significant...
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Selected methods of therapeutic rehabilitation in spinal muscular atrophy
Nosková, Petra ; Ježková, Martina (advisor) ; Zounková, Irena (referee)
The bachelor's thesis "Selected methods of therapeutic rehabilitation in spinal muscular atrophy - a research paper" deals with the issue of a progressive neurodegenerative disorder in spinal muscular atrophy (SMA) with the focus on therapeutic rehabilitation. Due to the lack of causal treatment in the present time, therapeutic rehabilitation holds a crucial position. The main part of the thesis consists of a brief overview of the existing knowledge of the SMA disorder, the principles of prevention and therapy of the most frequent musculoskeletal difficulties of patients, as well as an overview of selected methods of therapeutic rehabilitation, appropriate in this disorder. The most frequent musculoskeletal difficulties of the SMA patients include: development of scoliosis, contractures and luxation of hip joint. In the overview of methods and concepts appropriate in patients with SMA, selected methods and concepts based predominantly on neurophysiologic principle and options for respiratory rehabilitation were listed. The thesis is supplemented with the casuistry of a patient with the third type of SMA.
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