Masters Degrees (Paediatrics and Child Health)


Recent Submissions

Now showing 1 - 5 of 79
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    The utility of next generation sequencing at a Paediatric Neurology Department at Tygerberg Hospital, Western Cape, South Africa
    (Stellenbosch : Stellenbosch University, 2022-09) Van Niekerk, Margaretha Susan; Van Toorn, Ronald; Moosa, Sh​ahida; Solomons, Regan; Stellenbosch University. Faculty of Medicine and Health Sciences. Dept. of Paediatrics and Child Health.
    ENGLISH ABSTRACT: Introduction: Next-generation sequencing (NGS) technologies have improved diagnostics in rare genetic diseases. Neurological disorders are a group of disorders to which NGS tests have been vastly applied to. Currently, when and how to use NGS testing in a clinic setting is an unsolved issue, although new research results provide evidence favouring its use as a firstline diagnostic modality in many childhood neurological disorders in high-income countries. Objectives: To investigate the clinical utility of NGS in a tertiary paediatric neurology clinic in a resource-constrained Sub-Saharan setting. Design. We performed a retrospective, 41-month long study, in a single tertiary-level neurology clinic in South Africa, comprising consecutive paediatric neurology patients for whom an NGS-based diagnostic test was requested. Twenty-four different disease-group specific NGS-based gene panels were utilized in the study and the results categorized into the following categories: positive (pathogenic/likely pathogenic), variant of unknown significance, or negative. Result interpretation and careful matching of the variant to the clinical phenotype was performed. Subsequently, questionnaires were administered to some of the caregivers where a pathological variant was identified. Results: The overall diagnostic yield (DY) was 53% (66/124 patients). It was highest for Neuromuscular disorders (DY 64%), Cerebral palsy spectrum disorders (DY 54%) (9/16 patients), followed by Epilepsies (DY 44%)(28/63 patients). In 38%, an inconclusive molecular diagnosis was obtained. The small number of patients in some phenotypic groups limited the interpretation of specific diagnostic yields. The higher yield of the gene panel for neuromuscular disorders suggests that NGS may be a more cost-effective first-line test in well-defined phenotypes. Most caregivers (97%) expressed relief in knowing the diagnosis. Conclusion: We present daily clinical practice evidence that, even with the constraints of the South African health system, for half of the children with neurological disorders of undetermined aetiology, a definitive diagnosis can be reached with NGS. The diagnostic yield of our study is similar to previously reported paediatric cohorts. Our experience highlights the feasibility and clinical utility of NGS in the management of paediatric neurology patients. Future prospective clinical trials using NGS are required to establish efficacy and costeffectiveness, especially in resource-constrained settings.
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    Analysis of care received by very-low-birthweight neonates at Worcester Provincial Hospital in 2018 after implementation of the Western Cape Provincial Peri-viability Decision Support Framework
    (Stellenbosch : Stellenbosch University, 2022-08) van der Merwe, Carine; Slogrove, Amy; Engelbrecht, Arnold; Stellenbosch University. Faculty of Medicine and Health Sciences. Dept. of Paediatrics and Child Health.
    ENGLISH ABSTRACT: Background: A significant proportion of very-low-birthweight (VLBW; <1500g) infants are born at regional hospitals in South Africa (SA) and little is known regarding their care and outcomes. Since 2017, clinicians at regional hospitals throughout the Western Cape (WC) have utilized the WC Department of Health Periviability Decision Support Framework to guide care of VLBW infants. Objectives: To describe care of VLBW infants at Worcester Provincial Hospital (WPH) in 2018, compared to recommendations in the Framework and to secondarily compare differences in shortterm outcomes of VLBW infants managed before (2016) and after (2018) the implementation of these guidelines. Methods: A retrospective cohort study was conducted of all live-born VLBW infants ≤7 days managed at WPH, in 2016 and 2018. Information related to neonatal care was collected from medical records of patients born in 2018 only, and compared with Framework recommendations according to birthweight categories (500-799g; 800-999g; 1000-1499g). Information regarding mortality at discharge and at age 12 months, readmission before age 12 months, and length of neonatal stay was captured for all included neonates. Results were reported using frequencies, percentages, and proportions with corresponding 95% confidence intervals. Results: In total 227 infants were included, of which 115 were born in 2018 and included in the primary objective analysis. Infant and maternal characteristics were similar for the 2016 and 2018 cohorts. Complete framework adherence was achieved in 54% (n=90) of infants 1000-1499g, 42% (n=12) of infants 800-999g, and no infants of 500-799g were managed with complete adherence. Adherence to ≥80% of recommendations was achieved in 69% of infants. For the secondary objectives, survival to discharge (73.2% in 2016 vs 71.9% in 2018) and 1 year (70.5% in 2016 vs 70.4% in 2018) did not change significantly after Framework implementation. Clinically meaningful reductions in neonatal readmissions (30.6% in 2016 vs 23.5% in 2018) and length of stay (33 days in 2016 vs 28 days in 2018) were observed from 2016 to 2018. Conclusions: The majority of VLBW infants at WPH in 2018 were managed with ≥80% adherence to the Framework, but considerable differences in adherence were noted by birthweight categories. A clinically important decreased length of neonatal stay and readmission were observed postimplementation; this in combination with no increase in mortality represents a potential gain for a resource-restricted healthcare system.
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    A systematic review of cerebral palsy in African paediatric populations
    (Stellenbosch : Stellenbosch University, 2022-09) Murugasen, Serini; Springer, Priscilla; Donald, Kirsten; Stellenbosch University. Faculty of Medicine and Health Sciences. Dept. Obstetrics and Gynaecolog.
    ENGLISH ABSTRACT: Introduction Most knowledge on cerebral palsy (CP) comes from studies of North American and European populations. Translating this information into African contexts is difficult and flawed due to the dearth of information on CP in the region. Objective To review the literature on the prevalence, aetiology, co-morbidities, therapies and functional outcomes of African children with CP over a 20-year period. Methods PubMed, SCOPUS and Web of Science databases were searched for original research on children with CP aged <18 years published from 2000-2020. 1452 articles underwent a primary and secondary survey against explicit inclusion and exclusion criteria, with the final 58 articles reviewed by all 3 authors prior to quality assessment and data extraction. Results Prevalence of CP ranged from 0.8-10 per 1000 children, with most studies reporting a prevalence of 2-3 per 1000 children, but with concerns around case identification and undercounting. Almost half these children had identifiable risk factors in the perinatal period but up to 26% had no identifiable risk factor. Hypoxic ischaemic encephalopathy and kernicterus were important risk factors for CP in Africa. Spasticity was the most common clinical subtype and up to two-thirds of children with CP had at least one co-morbidity. Hospital-based populations had a larger proportion of more severely impaired children compared to the community, but all children had a disproportionately low level of access to assistive devices or rehabilitation services. Children with CP showed functional improvement with interventions compared to controls. Caregivers struggle significantly with multiple barriers to accessing services. Conclusion The true prevalence of CP in Africa remains uncertain, but African children have a different risk factor profile and higher levels of impairment and co-morbidities compared to the global North. Significant barriers prevent these children from accessing optimal care.
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    Hepatocellular injury in children treated for rifampicin-resistant tuberculosis: incidence, aetiology and outcome
    (Stellenbosch : Stellenbosch University, 2021-08) Duvenhage, Joanie; Schaaf, Hendrik Simon; Hesseling, Anneke Catharina; Stellenbosch University. Faculty of Medicine and Health Sciences. Dept. of Paediatrics and Child Health.
    ENGLISH ABSTRACT: Background: Hepatocellular injury has been commonly reported in adults on treatment for rifampicin-resistant tuberculosis (RR-TB). However, there are limited data in children. Methods: Two observational pharmacokinetic studies of children (0-17 years) routinely treated for RR-TB were conducted in Cape Town, South Africa between October 2011 and February 2020. All hepatocellular injury adverse events (AEs; defined as elevated alanine aminotransferase [ALT]) were documented. Data were analyzed to determine the incidence, aetiology, risk factors, management and outcome of ALT elevation. Results: A total of 217 children, median age 3.6 years at enrolment (IQR: 1.7, 7.1) were included. The median follow-up time was 14.0 months (IQR: 9.8, 17.2). Fifty-five (25.3%) developed an ALT AE. Of these, 43/55 (78%) children had 54 ALT AEs attributed to their RR-TB treatment. The incidence rate of ALT AEs related to RR-TB treatment was 22.4 per 100 person-years. Positive HIV status and having an elevated ALT at enrolment were associated with time to ALT AE attributed to RR-TB treatment, with p-values of 0.0427 and p<0.0001, respectively. Hepatitis A IgM was positive in 11/14 (78.6%) of grade ≥3 cases of ALT AEs. In 8/14 (57%) of severe ALT AEs, hepatotoxic drugs were stopped or temporarily interrupted. No children had a fatal or unresolved outcome. Conclusions: Hepatocellular injury in children on RR-TB treatment is common, although usually mild; having elevated ALT early in treatment and HIV-positive status are possible risk factors for the development of hepatocellular injury on treatment. Hepatitis A was a common cause of severe ALT AE in children treated for RR-TB.
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    Antibiotic use profile in a South African paediatric intensive care unit: A Prospective cohort description
    (Stellenbosch : Stellenbosch University, 2022-10) Gobetz, Charle; Rabie, Helena; Parker, Noor; Stellenbosch University. Faculty of Medicine and Health Sciences. Dept. of Paediatrics and Child Health.
    ENGLISH ABSTRACT: Background Antibiotic overuse and emerging bacterial resistance is a growing threat to global health and an important point of intervention to protect future effectiveness of antibiotics. Critically ill children who are admitted to an intensive care unit are generally started on broad-spectrum antibiotics as this is necessary within the first hour of identification of sepsis to improve survival. In describing the indications and patterns of antibiotic use in our PICU we aim to reveal opportunities to improve antibiotic stewardship practices and contribute to overcoming a growing problem of antimicrobial resistance. Objectives To comprehensively describe antibiotic utilization in the PICU at Tygerberg Hospital and to assess the appropriateness of antibiotic prescribing. Methods We conducted a prospective observational antibiotic utilization study which enrolled 150 children between 1 January 2020 and 23 March 2020. Results There were 133 children admitted to PICU representing 150 admission episodes. The median age of the children at admission were 20.6 months (IQR 4.4 – 64.0). Hundred and five (70%) children had a medical reason for admission with sepsis being the most common diagnosis among the youngest age groups. There was a significant difference in reason for admission between the different age groups (p=0.007) with surgical reasons becoming more likely with increasing age. Of 150 admissions 70 (46.6%) were noted to have one or more comorbid conditions with chronic lung disease and prematurity being the most common. Only 93 (66.9%) of admissions had a weight for age z-score (WAZ) in the -2 to +2 z-score range. A substantial number of admissions (24.5%, n=34) had a WAZ of <-3. In 121 (80.6%) admissions patients received antibiotics in the week prior to PICU admission. There were also 7 (5.8%) instances of carbapenems given prior to PICU admission. Twenty-five admissions (16.7%) did not receive any antibiotic. The total antibiotic use was 1256 days of therapy (DOT) /1000 patient days. Most of the antibiotic prescriptions (79.6%, n=535) were classified as empiric prescriptions. Meropenem was the antibiotic most frequently started in PICU and used for the greatest total number of days (n=140). Of the 125 admissions where antibiotics were used 66 (52.8%) were appropriate for all prescriptions and all revisions to prescriptions. We found a blood culture pathogen yield of 11.2% and a contamination rate of 7.5%. Conclusion We confirmed a high rate of empiric antibiotic utilization with evidence of overuse and inappropriate escalation decisions. Inappropriate use was mostly related to incorrect empirical choices, and prolonged courses of antibiotics.