Browsing by Author "Wessels, Tina"
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- ItemOpen AccessDevelopment of a Duchenne Muscular Dystrophy Registry in South Africa to optimise care(2017) Jalloh, Alhaji Alusine; Wilmshurst, Jo M; Wessels, TinaBackground: 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.
- ItemOpen AccessUnderstanding doctors' knowledge and attitudes concerning genetics and genetic services in South Africa(2015) Düsterwald, Gillian; Wessels, Tina; Greenberg, JacquieThe burgeoning knowledge in genetics implies that genetic services (including clinical and counselling) will be in increasing demand in the future. This study investigated South African doctors' genetic education, knowledge and attitudes towards genetic services and examined whether these factors affect referral to genetic services. Several studies have indicated that health professionals have poor understanding of genetics and genetic conditions, and this lack of insight extends to knowledge of genetic services and how and when to access them, so that those who would benefit from services might not gain access to them because they are not referred by their doctors (Delikurt et al., 2015). METHODS: A questionnaire was developed based on published research and questions relating to the aims of the project. Forty-one questions were asked, covering referral patterns, demographics, education, knowledge and attitudes to genetic services and genetic counselling. The sample population consisted of 140 GPs attending a family practitioners' conference. Fifty-one responses were received. Results were analysed using descriptive statistics and content analysis of open-ended questions. RESULTS: Results show that 52.9% of general practitioners have referred to genetics in the past, 92.2% think they will refer in future and only 49% know how to access genetic services. Doctors who knew how to access genetic services were more likely to have previously referred patients to these services. Almost half the doctors who had not used genetic services previously felt that genetic services were difficult to access and several attributed this to their lack of knowledge. Doctors who had the most education were more likely to have previously referred patients to genetic services. Doctors indicated that they would like more education on basic genetics, common genetic conditions and genetic services via forums such as conferences, CME activities and online resources. More than half of the doctors rated themselves as "not confident" in their genetic knowledge. Down syndrome was the most commonly seen genetic condition in practice, followed by cystic fibrosis and breast cancer. More than 80% of respondents did not know about direct-to-consumer testing, but 46% thought they might be approached to interpret the results of a direct-to-consumer test in future. Doctors showed poor understanding of the ethics of testing minors for genetic conditions. Genetic services and genetic counselling were seen as indispensable by 66.7% and 74.5% of doctors respectively. CONCLUSIONS: Overall, doctors' knowledge of genetics seems poor and most of them indicate they would like more education on basic genetic concepts, referral guidelines for genetic services and how to access genetic services, which agrees with the amount of education being the most important factor relating to previous referral to genetic services. This study will provide guidance for awareness and education programmes, and inform the future development of genetic services in South Africa.
- ItemOpen AccessWomen's experiences of receiving a child's fetal alcohol spectrum disorder diagnosis: a Western Cape study(2015) Shaw, Tarryn; Wessels, Tina; Olivier, Leana; Lombard, ChanelleThere are a range of conditions, collectively known as fetal alcohol spectrum disorders (FASD), which result from the exposure of a developing fetus to alcohol. South Africa has among the highest rates of FASD reported in the world, especially among the impoverished communities in the Western Cape region, with rates of up to 208.8 per 1000 first grade learners being reported. The need for screening, surveillance and immediate prevention work has been stressed. Limited research has been conducted on understanding the experiences of parents who raise children with FASD. This is invaluable in understanding what needs, support, services, education and funding is required. The Foundation for Alcohol Related Research (FARR) recently conducted a FASD epidemiological study to assess the burden of FASD and guide the implementation of prevention work in high risk areas. Grade one learners from 14 West Coast schools were diagnosed, and their mothers received a diagnostic feedback and counselling session. The aim of the rese arch project was to explore the experiences of women who have received an FASD diagnosis for their child and to understand their comprehension, feelings and needs. Thirteen participants were recruited through FARR and semi-structured interviews were conducted at Vredenburg Private Hospital in the West Coast region of South Africa. Additionally, three community workers were interviewed. The data was analysed using a thematic content analysis approach and five themes were identified. The research identified that the social context in which these women live has caused them to fall victim to their circumstances, contributing to their drinking habits. Their experiences of living with an FASD child are difficult and most women feel guilty while others are in denial. Although these women know that alcohol was the cause of their child's problems, there were a number of misconceptions such as the amount of alcohol to cause harm, which parent was responsible and that drugs are safer than alcohol use during pregnancy. Furthermore, the mothers found it helpful to know the diagnosis. This helped them understand their child's problems. They felt strongly that they will abstain from alcohol use during pregnancy and that they will encourage other women to do the same. There was a need for further education and context-sensitive intervention work. This research will impact strategies to support families, help to improve services and guide prevention work in this area.