Academic literature on the topic 'Faciocapulohumeral muscular dystrophy south africa'

Background Duchenne Muscular Dystrophy (DMD) is the most prevalent and lethal of the inherited dystrophies. Globally, the incidence is reported at 1 in 3500 live male births. There is currently no cure for the disease. With the possibility of gene therapy becoming available, patients who would qualify for such treatment need to be identified. Further, understanding disease expression in a population is essential to focus targeted interventions, such as corticosteroids, to ensure they are safe and effective in the local setting. By maintaining a DMD specific disease registry this information can be attained. Objective: This report describes the concept and design of the first South African DMD disease registry using Research Electronic Data Capture (REDCap) Methods: The registry was developed using REDCap’s web-based online design, accessed through the Clinical Research Centre (CRC) in the Faculty of Health Sciences at the University of Cape Town. Electronic case report forms were created from these clinical data using REDCap and for specific variables serial entries were possible relating to disease progression. International data standards were adopted as proposed by TREAT-NMD, a global network of registries on DMD to ensure our data is compatible with this and other international registries. Results: Retrospective data entry combined with dynamic prospective recording of data was utilized in this project. Building on an existing database, 100 confirmed DMD boys are currently eligible for inclusion into the registry. As our registry is an on-going study, sequential analysis of accumulated data will be done going forward to review trends on our patients with DMD. Conclusions: This report describes the concept and design of a DMD registry and the steps followed to its establishment with REDCap. The focus is to consolidate clinical and genetic information on South African patients with DMD, commencing with the local centre’s patient cohort but rolling out access to other South African centres to create a national resource, which is internationally relevant. Ideally this template could be duplicated in the conceptualisation of disease registries for other key conditions.

Background: The most prevalent, most lethal of the inherited dystrophies is Duchenne Muscular Dystrophy (DMD) and globally, the incidence is 1 in 3500 live male births. Currently, DMD has no cure, the latest care guidelines, especially on corticosteroids, cardiac interventions, and non-invasive ventilation, are all associated with improved muscle function, survival and quality of life. This reflects the fact that the natural history of DMD has been changed by these effective measures. Despite these advances, the progression and disastrous outcome of the disease cannot be modified. Potential therapeutic approaches that target the causative genetic mutations raise hopes of promising treatment for DMD. Many clinical trials of molecular genetic therapies have been planned and conducted for DMD. In South Africa, even though mutational characteristics of South African DMD/BMD patients have been described in several studies, the development of experimental therapies faces many challenges due to the lack of epidemiological data, the natural history of the disease and information about clinical care amongst Africans. Understanding the disease course of the local population can lead to better care approaches, further with the possibility of gene therapy becoming available, patients that would qualify for such treatment need to be identified. Hence the need for a DMD specific disease registry. Objective: This study aims to describe the concept and design of the first DMD disease registry of South Africa using Research Electronic Data Capture (REDCap) Methods: A comprehensive literature review was undertaken to identify the key areas of DMD, which must be recorded to permit comparison across disease expression and intervention variables. The registry was developed using REDCap's web based online designer accessed through the Clinical Research Centre (CRC) in the Faculty of Health Sciences at the University of Cape Town, and the workflow methodology was adopted to manage the registry. Clinical data from DMD patients form the database and consists of seven parts: 1) Enrolment details, 2) Background data, 3) Current disease, 4) Schooling, career prospects, and life style/psychological details, 5) basic activity of living scale, 6) power chart, 7) current motor function/symptoms. Electronic case report forms were created from these clinical data by the use of REDCap and for specific variables serial entries were possible relating to disease progression. We adopted international data standards proposed by TREAT-NMD, a global network of registries on DMD to ensure our data is internationalised and comparable to other registries. Results: Retrospective data entry combined with dynamic prospective recording of data was utilized in this project. Building on an existing basic database, 100 confirmed DMD boys are currently eligible for inclusion into the registry. The registry database consists of 7 forms collecting information on clinical and genetic information, which is subdivided into 100 items making a total of 210 variables. As our registry is an on-going study, sequential analysis of accumulated data will be done going forward to review trends on our DMD patients. Conclusions: This work describes the concept and design of our DMD registry and the steps followed to its establishment with REDCap. The focus is to consolidate clinical and genetic information on South African DMD patients that will translate to clinical research and form the basis for this patient information to be linked nationally and internationally. It is the hope that such an effort can be replicated in the conceptualisation of new disease registries.

This study set out to explore the lived experiences of parents raising a child with Duchenne Muscular Dystrophy (DMD) in South Africa. It addressed the challenges and coping strategies faced by three married couples of children, specifically male children, who are affected by this degenerative and fatal genetic condition. Purposive sampling was used and themes were highlighted through semi-structured interviews, employing interpretative phenomenological analysis (IPA). Major themes found included the reactions to the diagnosis; facing many losses and experiencing anticipatory grief; and learning to adapt. It was found that parents tended to vacillate between hope, grief, avoidance and presence, depending on their perceived level of support, contextual factors, and social and economic challenges. It was important for the parents to plan in advance and gain practical information about the illness in order to implement the necessary changes. The adjustment process was shown to be complicated. The final theme entailed what it meant for each family to create a meaningful life beyond the loss, and to remain hopeful about what lies ahead. It was concluded that amidst the unique and far-ranging challenges experienced on a daily basis, the parents started making changes that have had a positive impact on the lives of their sons and the entire family. These parents have found ways of cultivating meaning and hope in their everyday lives, doing everything in their power to grant their sons fulfilling lives. The findings support the need to incorporate strategies into existing services and health promotion programmes to build on the parents’ support structures, enabling them to adapt to the challenges they face on a regular basis. Further research into the disease impact in a South African context is necessary to improve care provision and inform policy. Keywords: Duchenne Muscular Dystrophy (DMD); degenerative; fatal; genetic condition; male children; parents; lived experiences; challenges; coping strategies.
Mini Dissertation (MA (Counselling Psychology))--University of Pretoria, 2020.
Psychology
MA (Counselling Psychology)
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