Browsing by Author "Moodley, Sashmi"

Now showing 1 - 3 of 3
  • Thumbnail Image
    Item
    Open Access
    A retrospective description of primary immunodeficiency diseases at Red Cross War Memorial Children's Hospital, Cape Town, South Africa, 1975 – 2017
    (2020) Moodley, Sashmi; Eley, Brian
    Background. The primary immunodeficiency diseases (PIDs) constitute a diverse and everexpanding group of inborn errors affecting a wide range of immune functions. They are not well documented in Sub-Saharan Africa. An important barrier to care is limited awareness of PIDs and their management among health care professionals. This fascinating spectrum of diseases is rapidly expanding worldwide, and not as rare as we think. Genetic characterization and newborn screening for primary Immunodeficiency diseases (PIDs) may be the gold standard in the first world setting but are neither practical nor feasible for our doctors. Yet, other low and middle income countries in the world have also established reasonable services and created registries for children with PIDs, including other African countries. Objective. To describe the spectrum of PIDs at a tertiary paediatric hospital. Methods. A retrospective descriptive study of PIDs diagnosed at Red Cross War Memorial Children's Hospital, Cape Town, South Africa between 1975 and 2017 was undertaken. Results. 252 children with PIDs were identified, spanning 8 of the 9 categories listed in the 2017 classification of the International Union of Immunological Societies. Predominantly antibody deficiencies, combined immunodeficiencies with associated syndromic features, and immunodeficiencies affecting cellular and humoral immunity accounted for 79% of all PIDs. The mean age (standard deviation) at diagnosis was 46 (50) months and the male to female ratio was 1.5:1. A history of parental consanguinity was present in 3 children (1.2%). Recurrent infection was the most prevalent presenting phenotype, manifesting in 70.2% of the patients. Genetic or chromosomal confirmation was obtained in 42/252 (16.7%) of the children. Common interventions used to prevent infection were antimicrobial prophylaxis and immunoglobulin replacement therapy, administered to 37.7% and 36.9% of the patients respectively. Six of seven children who underwent haematopoietic stem cell transplantation (HSCT) had successful outcomes. The 7th patient died 2 months post-HSCT from overwhelming infection. Although we could not account for the children lost to follow up during the study period, 53 (21.0%) deaths were confirmed. Conclusions. Several challenges exist in the recognition and treatment of children with PIDs in our setting. These include limited access to genetic diagnostics and HSCT. Sub-optimal treatment options contribute to the overall mortality of PIDs in South Africa. Greater awareness among clinicians treating children and more laboratory diagnostic capacity are needed to increase the recognition PIDs among children in South Africa. The treatment options that are available in South Africa are unevenly distributed. Hence, treatment capacity should be expanded throughout the country, especially advanced interventions such as HSCT. Ongoing reporting of registries such as ours and increased community awareness should strengthen the lobby for greater investment in rare diseases such as the PIDs.
  • Thumbnail Image
    Item
    Open Access
    A retrospective description of primary immunodeficiency diseases at Red Cross War Memorial Children's Hospital, Cape Town, South Africa, 1975 – 2017
    (2020) Moodley, Sashmi; Eley, Brian
    Background. The primary immunodeficiency diseases (PIDs) constitute a diverse and everexpanding group of inborn errors affecting a wide range of immune functions. They are not well documented in Sub-Saharan Africa. An important barrier to care is limited awareness of PIDs and their management among health care professionals. This fascinating spectrum of diseases is rapidly expanding worldwide, and not as rare as we think. Genetic characterization and newborn screening for primary Immunodeficiency diseases (PIDs) may be the gold standard in the first world setting but are neither practical nor feasible for our doctors. Yet, other low and middle income countries in the world have also established reasonable services and created registries for children with PIDs, including other African countries. Objective. To describe the spectrum of PIDs at a tertiary paediatric hospital. Methods. A retrospective descriptive study of PIDs diagnosed at Red Cross War Memorial Children's Hospital, Cape Town, South Africa between 1975 and 2017 was undertaken. Results. 252 children with PIDs were identified, spanning 8 of the 9 categories listed in the 2017 classification of the International Union of Immunological Societies. Predominantly antibody deficiencies, combined immunodeficiencies with associated syndromic features, and immunodeficiencies affecting cellular and humoral immunity accounted for 79% of all PIDs. The mean age (standard deviation) at diagnosis was 46 (50) months and the male to female ratio was 1.5:1. A history of parental consanguinity was present in 3 children (1.2%). Recurrent infection was the most prevalent presenting phenotype, manifesting in 70.2% of the patients. Genetic or chromosomal confirmation was obtained in 42/252 (16.7%) of the children. Common interventions used to prevent infection were antimicrobial prophylaxis and immunoglobulin replacement therapy, administered to 37.7% and 36.9% of the patients respectively. Six of seven children who underwent haematopoietic stem cell transplantation (HSCT) had successful outcomes. The 7th patient died 2 months post-HSCT from overwhelming infection. Although we could not account for the children lost to follow up during the study period, 53 (21.0%) deaths were confirmed. Conclusions. Several challenges exist in the recognition and treatment of children with PIDs in our setting. These include limited access to genetic diagnostics and HSCT. Sub-optimal treatment options contribute to the overall mortality of PIDs in South Africa. Greater awareness among clinicians treating children and more laboratory diagnostic capacity are needed to increase the recognition PIDs among children in South Africa. The treatment options that are available in South Africa are unevenly distributed. Hence, treatment capacity should be expanded throughout the country, especially advanced interventions such as HSCT. Ongoing reporting of registries such as ours and increased community awareness should strengthen the lobby for greater investment in rare diseases such as the PIDs.
  • No Thumbnail Available
    Item
    Open Access
    A retrospective description of primary immunodeficiency diseases at Red Cross War Memorial Children's Hospital, Cape Town, South Africa, 1975-2017
    (2023) Moodley, Sashmi; Donald, Kirsten
    Background: Even in the absence of global threat, children with disabilities were underrepresented in monitoring efforts and were less likely to have been included in response strategies during the COVID - 19 pandemic. The harmful effects of the pandemic were expected to be most damaging for those in the poorest countries. Objectives: Our study aimed to report the impact of the COVID-19 pandemic on families of children with disabling conditions in South Africa. Methods: Parents from an online parent network, initiated by Shonaquip Social Enterprise during the pandemic, were invited to participate in an online survey in October 2021. A quantitative analysis was conducted using Stata Statistical Software. Results: Sixty-eight (17%) of 400 parents in the network, completed the survey, 89% were mothers. Children aged 5-12 years represented 43% of the group. Eleven parents (16%) reported child health worsening compared to before the pandemic. Parent concerns included practicalities of infection control measures for their children and concerns about caregivers falling ill. Six (9%) children contracted COVID-19 infection and two (3%) children demised. Few families received telephonic contact from health providers. Indirect effects of the pandemic included loss of income and food shortages in more than half of the families. Twentytwo( 32%) families had opted not to send their children back to school even by the third wave of infections. Some positive experiences of lockdown reported by parents included more family time and the opportunity to reach out to other families, however 33 (49%) parents reported being highly stressed, with five (7%) revealing a need for substances to cope. Most parents (n = 50, 74%) reported feeling that care for children with disabilities was not prioritized in South Africa. Conclusion: This is one of the few studies in South Africa that explored childhood disability during the pandemic. A proportion of caregivers reported deterioration in their children's health during a time of limited access to health services. They have reported loss of family income, reduced access to educational services and challenges to mental health of caregivers. Families did not feel supported. Including the voices of parents highlight a range of challenges that need greater awareness. Post-pandemic, much change in practice is needed for families and children with disabilities.