Faculty of Health Sciences (ETDs)

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    The Utilisation of Genetic Counselling Services Amongst Prenatal Healthcare Providers in Gauteng, South Africa
    (University of the Witwatersrand, Johannesburg, 2024) Duvenhage, Megan
    Congenital anomalies and disorders, many being genetic, continue to have high prevalence and mortality rates globally. Prenatal healthcare providers possess the necessary skills to identify these cases before birth and refer patients for genetic counselling. This study aimed to establish the utilisation of genetic counselling services and insights into the perceptions of genetic counselling amongst prenatal healthcare providers in Gauteng, South Africa. By assessing the utilisation of genetic counselling, barriers and facilitators to referrals were highlighted, and recommendations to improve service provisions in the prenatal sector were made. An electronic survey adapted from Thom and Haw (2021) was sent to prenatal healthcare providers in both the public and private healthcare sectors. A total of 54 participants were included in this study. Results show that roughly 74% of participants are able to refer to genetic counselling services, but only 57% had made use of the service. None of the participants were able to identify all appropriate reasons for referral to genetic counselling correctly, and only 24% of participants understood the responsibilities of a genetic counsellor. Misconceptions regarding the scope of practice of genetic counsellors and uncertainties surrounding the referral process were the most significant barriers to referrals. The study revealed that although prenatal healthcare providers in Gauteng are using genetic counselling services, they are not fully utilising the service due to a lack of knowledge surrounding the profession's services. Therefore, there is a need for educational resources to bridge the knowledge gap and improve prenatal healthcare in Gauteng, South Africa
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    An audit of children with Type 1 diabetes mellitus presenting to a tertiary institution in Johannesburg, South Africa
    (2024) Gray, Meghann
    At initial diagnosis, the rate of diabetes ketoacidosis (DKA) varies between countries (15- 67%) and may be associated with a lack of awareness of early signs and symptoms. Objectives: To describe the demographic, anthropometric, clinical and biochemical characteristics of children presenting with Type 1 diabetes mellitus (DM). Methods: A retrospective review of Type 1 DM children's medical records admitted to CHBAH from 01 January 2009 to 31 December 2018 was conducted. This ten-year period was further subdivided into two groups (Group 1: 2009-2013 (n = 75); Group 2: 2014-2018 (n=78)) to assess annual follow-up visit data in Group 1 for five years per patient and to compare data between the Group 1 and 2 time periods. Statistical differences between groups were analyzed by Mann-Whitney U test or Student t-tests, and for between the years of follow-up (Group 1), the paired student t-test was used. Results: The total number of newly diagnosed Type 1 DM children was 153. The median age at presentation was 10.5 years (IQR 7.4-12.3), 56% females and 88% black. The mean WAZ and HAZ were -0.8 (SD ± 1.5) and -0.4 (SD ± 1.6) respectively. Sixty-five percent (n = 100) presented in DKA, 56% of those being severe with a higher prevalence of DKA in group 2 compared to group 1 (72% vs 59%; p=0.08). At presentation, the median HbA1c was 12.5% (IQR 11.1-14.3) and C-peptide was 0.2ug/L (IQR 0.1-0.4) (normal range 1.1-1.4). Anti-GAD antibodies were positive in 82% (n=82/101) of the results available. In Group 1, HbA1c increased at year 3 follow up with advancing pubertal status. Despite changing to more intensive insulin therapy, mean HbA1c remained unchanged over the 5 years of follow-up. Conclusion: The majority of newly diagnosed children presented in severe DKA, similar to Red Cross War Memorial Children's Hospital (2005-2009), with an increasing prevalence over the ten vii years, which could be attributed to the lack of awareness of Type 1 DM in our population. An education campaign is needed to improve community knowledge about diabetes.