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SEGMENTAL DUPLICATIONS PROMOTE GENOMIC INSTABILITY IN HUMAN CHROMOSOME 15q11-q13Locke, Devin Paul 25 June 2004 (has links)
No description available.
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The development of a therapeutic approach for the treatment of individuals with Prader-Willi syndrome and their primary caregiversSethuntsa, Molelekeng 11 1900 (has links)
Prader-Willi syndrome (PWS) is a genetic disorder resulting from a mutation of chromosome 15. It can manifest in physiological characteristics, cognitive impairment, behavioural problems, and sometimes also psychiatric disturbances. Taking care of an individual with PWS has a detrimental impact on the primary caregiver and also affects others around them. This considered, the current study aimed to learn more about the experiences and challenges of individuals diagnosed with PWS and their primary caregivers, in Gauteng and North-West Provinces, South Africa. Purposive sampling was used to select five families which then participated in the study. Qualitative research was used to conduct the study. As it was also crucial to generate a comprehensive understanding of participant experiences, collective instrumental case studies were used ̶ making use of participatory action research, ethnography and elements of auto-ethnography. Data were gathered by conducting semi-structured interviews, which were then analysed using thematic analysis. The data were organized around certain topics and common themes which emerged in each case study and the findings were then integrated with the literature which had been extensively reviewed. Based on these experiences and challenges, interventions were suggested that addressed the challenges and needs of the PWS individuals, their caregivers and families, and those around them (including school teachers). The main findings confirmed that not all individuals diagnosed with PWS manifest all the physiological characteristics, psychiatric disturbances and behavioural problems which have been documented in the literature. Furthermore, the symptoms vary in severity from one individual to the next. Cognitive impairment was, however, common to all individuals in the study. The findings also suggest that having a child diagnosed with PWS has a significantly negative impact on the primary caregiver, and taking care of PWS children is emotionally overwhelming and time-consuming. The use of a client-centred approach, implementing behaviour therapy techniques and doing psycho-education, all proved to be effective in managing some of these behaviours displayed by the individual patients and the challenges experienced by primary caregivers. / Psychology / Ph. D. (Psychology)
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