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Assessment of motor skills in children with osteogenesis imperfecta
Kašparová, Andrea ; Quittková, Adéla (advisor) ; Dyrhonová, Olga (referee)
Diplomová práce Hodnocení motorických dovedností dětí s OI Abstract The thesis deals with the assessment of motor skills and quality of life in children with osteogenesis imperfecta. The theoretical part summarizes aetiopathogenesis, clinical features, kinesiological abnormalities and the treatment strategies. A particular part describes therapeutic interventions during the various stages of childhood with an alignment to multidisciplinary cooperation. Furthermore, tests of motor skills and quality of life are presented. The practical part assesses the applicability of the BOT-2 for the evaluation of motor skills and PedsQL for the evaluation of the quality of life in children with OI. Moreover, the BOT-2 standardized test score evaluates and compares motor skills and quality of life in children with osteogenesis imperfecta to their peers. Contemporaneously, it investigates the effect of motor skills on the quality of life in children with OI. Based on the results the thesis confirms the hypothesis - worsened both gross motor skills and fine motor skills and the dependency of quality of life on the level of motor skills. The discussion part deals with the feasibility of BOT-2 and PedsQL for the assessment of children with OI, it comments the main limitations of children with OI, and based on up-to-date...
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Life difficulties of child with the osteogenesis imperfecta disorder.
LACINOVÁ, Ida
Osteogenesis imperfecta, innate brittle bone disease, is a very serious disease. It is inheritable disease of connective tissue, which shows by abnormal fragility of bones. The occurrence of this disease is one case in 10 000 30 000 births. The theoretical part of the thesis deals with the disease itself, also the psychical impact on children suffering from Osteogenesis imperfecta and the impact on their families as well. At the beginning of the research, three goals of this thesis were set: map out (on the basis of theoretical and practical backgrounds) the pitfalls of life of children with the disease Osteogenesis imperfecta, find out what are the most common difficulties by children with the disease Osteogenesis imperfecta and also find out the experiences of nurses with the care for children with disease Osteogenesis imperfecta. The empirical part of the thesis was processed by means of qualitative research conducted by the technique of semi-structured interview and narrative biographical interview. The research set were nurses working at the child departments in hospitals, parents of ill children and also an adult woman with the diagnosis of Osteogenesis imperfecta and two doctors. From the research emerged that among the most common difficulties of children is pain, which decreases the quality of their life. Small children can't engage in typical activities of children, such as going to a playground, older children can't attend for example music festivals. Children feel fear from fractures and are therefore limited in sports. Because of injuries and their treatments, the children have more absences at schools and therefore are isolated from peers. Nevertheless, the children with this disease can live a happy life. From the results of the research also emerges, that nurses working at the child departments of the hospitals attended by children with this illness have a good experiences with their treatment. They are able to give parents important information and know the specifics of application of the treatment. The results of the diploma thesis were presented at a national student conference and will be further published.
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Mutation Analysis in MLBR /Major Ligand Binding Regions/ of COL1A1 gene of the Czech Individuals with Osteogenesis Imperfecta, Type I-IV Diagnosis.
Šormová, Lucie ; Mazura, Ivan (advisor) ; Včelák, Josef (referee)
Osteogenesis imperfecta is an inherited disorder caused mainly by collagen type I genes mutations, COL1A1 and COL1A2. These mutations affect especially connective tissue. Disease is characterized by fragile bones, deformations and increased frequency of fractures. It's worldwide extensive disorder regardless of age, sex, nationality or races. The incidence is 1: 16 - 20 000 births. Currently, we described nine clinically distinct forms of Osteogenesis imperfecta. Only the first four types OI, type I-IV, are caused by collagen type I genes mutations . In these nine types there are distinguished mild and severe forms. Type II and III are lethal forms, death occur offen during prenatal period or in the first days of the life affected individuals. Characteristic clinical features of collagen forms OI are an increased incidence of fractures, deformations of bones, blue sclera, hearing loss, Dentinogenesis imperfecta small or subnormal growth (Marini, 2010). This study alignment is mainly the description of the clinical forms, exploring the molecular basis of disease and determine the relationship between the type and position of the mutation and the resulting phenotype of affected individuals. We have analysed exons 31-40, including associated non-coding regions, of the COL1A1 gene (so-called MLBR =...
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