OpenUCT is the open access institutional repository of the University of Cape Town (UCT). It preserves and makes UCT scholarly outputs digitally and freely available, including theses and dissertations, journal articles, book chapters, technical and research reports, as well as open educational resources.
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Genomics of inherited neuromuscular diseases in Sub-Saharan Africa
(2026) Alves, Sergio; Heckmann, Jeanine; Nel , Melissa
Introduction: Inherited muscle diseases (IMD) are a clinically and genetically heterogeneous group of disorders causing variable muscle weakness. In South Africa, accurate diagnosis is hindered by limited access to genetic testing, resulting in prolonged diagnostic odysseys and many patients remaining without a definitive diagnosis. Between 2020 and 2025, probands were enrolled in the International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) study to provide definitive molecular diagnoses through comprehensive genetic testing unavailable locally Aim: To describe the phenotypic and genetic findings of a South African IMD cohort who underwent locally available genetic testing, if appropriate, and locally unavailable genetic testing. Methods: Patients with suspected IMD attending Groote Schuur Hospital, University of Cape Town, were phenotyped and categorised by predominant weakness pattern: limb-girdle, distal, extraocular muscle (EOM), myotonia-related, myasthenic-like with fatigable weakness and periodic or exercise-related muscle symptoms. Tier 1 testing included locally available testing for Dystrophinopathies (DMD), Myotonic Dystrophy type 1 (DM1) and mitochondrial DNA (mtDNA) screening if clinically indicated. Thereafter, undiagnosed patients proceeded to tier 2 testing which included PABPN1 repeat expansion testing (Oculopharyngeal Muscular Dystrophy, OPMD) or D4Z4 contraction testing (Facioscapulohumeral Muscular Dystrophy, FSHD1) if clinically indicated or next generation sequencing (NGS). Results: Of 89 probands with suspected IMD, 55 (62%) obtained genetic diagnoses although only 16 (18%) were solved via tier 1 testing. Locally solved cases included 8 dystrophinopathies (88% with childhood onset), 5 DM1 (none with African ancestry) and 3 adults with EOM paralysis due to a single large mtDNA deletion. Despite locally available dystrophinopathy screening, median diagnostic delay was 10 years. Tier 2 testing provided diagnoses for 53% (39/73) of cases remaining undiagnosed or untested by tier 1. Targeted testing identified FSHD1 (n=8) and OPMD (n=5) in 13 of 17 cases tested, with OPMD predominating in older adults (>50 years). Notably, FSHD1 was absent in patients of African ancestry. NGS, the most frequently employed tier 2 modality, resulted in genetic diagnoses in 41% of those tested (26/64). Frequently identified conditions via NGS included Myotonia Congenita (CLCN1, n=4), Desminopathies (DES, n=3) and a large heterozygous NEB deletion in three South African admixed families with autosomal dominant inheritance of a distal myopathy. Of seven cases with a prioritised variant of uncertain significance (VUS) in diseaseassociated genes, six (7%) were reportable and probably solved, while one was inconclusive and considered possibly solved. Eight probands harboured variants novel to ClinVar, with four classified as VUS. Conclusion: This study represents the largest adult single-centre heterogeneous IMD cohort reported in a diverse South African population. Despite limited tier 1 testing, an overall diagnostic yield of 62% was achieved with tier 2 testing contributing 53% of diagnoses. Prolonged diagnostic delays despite available dystrophinopathy screening suggest barriers beyond laboratory access. This study characterises a unique South African mutational landscape including ancestry-dependent disease distribution in which FSHD1 and DM1 predominated in European, and less so in admixed ancestry patients, but were absent in those of African ancestry. These findings underscore the inadequacy of current IMD testing in South Africa and the need for expanded genomic testing capacity.
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Open Access
Digital citizenship in Nigeria: gender, politics and resistance on X
(2026) Ataguba, Ochega; Bosch, Tanja; Nyamnjoh , Francis
This study investigates how citizenship and civic engagement were reimagined through the use of X (formerly Twitter) during Nigeria's 2023 national election season. Drawing on theories of digital citizenship and intersectionality, it examines how ten prominent hashtags were resignified as spaces of radicalised citizenship, enabling citizens to subvert, negotiate, and contest state power. The study adopts a natively digital methods approach, combining thirteen months of digital ethnography with reflexive thematic analysis of publicly available tweets. It explores how digital acts of calling, opening, and closing illustrate both the emancipatory and exclusionary dynamics of online civic participation and activism. Findings reveal that ordinary Nigerians used X to make rights claims, construct counter-hegemonic networks, and reconfigure citizenship from below, while also reproducing exclusionary discourses through disinformation, misogyny, and homophobia. Through these processes, citizen subjects strategically traversed the boundaries of obedience, submission and subversion to renegotiate their civic commitments and reclaim the political field. The study takes a substantive view of digital citizenship, not just as belonging, rights, duties, and contestation, but as an exercise of political subjectivity and an ongoing negotiation of belonging and resistance, especially in a social context where nondominant classes and everyday citizens were previously denied the communicative privileges to dissent. Ultimately, the study highlights how X is actively shaping, contesting and redefining citizenship, offering hope for a more expressive, visible and inclusive citizenship regime in Nigeria. It argues that more than ever, what constitutes digital citizenship on X in Nigeria now includes the enormous natively digital data produced by everyday citizens on social media who subvert hegemonic norms and cultures. The study contributes to Global South scholarship by showing how digital platforms simultaneously enable and constrain democratic participation, reshaping the terrain of political subjectivity in contemporary Nigeria.
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Open Access
Cybersecurity capacity building in the age of digital libraries: African librarians' perspectives
(2026) Iwundu, Nkiruka; Suleman, Hussein
In this era of digital transformation, libraries have evolved from traditional physical repositories of knowledge into dynamic online learning commons. This shift depends on complex, interconnected computer networks that create vulnerabilities and opportunities for cyberattacks. Consequently, libraries have seen a rise in sophisticated cyber threats, raising concerns about data protection, confidentiality, and the integrity of digital content. Strengthening librarians’ cybersecurity capacity is essential, as human factors are key to preventing breaches and supporting resilient digital services. This study adapted the National Initiative for Cybersecurity Education (NICE) framework to assess African librarians' cybersecurity proficiency and identify existing skill gaps. The study adopted an exploratory research design. 74 librarians from Ghana, Nigeria, Tanzania, Malawi, South Africa, Uganda, Zambia, Botswana, Zimbabwe, and Kenya participated in the study. Data were collected through a structured questionnaire aligned with the NICE framework and a semi-structured interview. The findings revealed limited awareness and a significant skills gap among librarians. The study also identified five emerging themes: protection of library assets; patrons’ data and trust; awareness and skills gaps; cybersecurity education and capacity building; institutional and resource barriers; and an indifferent attitude among staff toward cybersecurity. This article is significant because it offers new insights into improving capacity and strengthening information security. It contributes to knowledge by adapting the knowledge manager and database administrator roles in the NICE framework to assess librarians’ cybersecurity skills for digital library services; empirically examining the cybersecurity skill proficiency of African librarians; and identifying critical skill gaps and priority areas for targeted capacity-building and upskilling interventions.
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Open Access
Evaluation of the tools and techniques impacting the culture of Benefits Realisation Management in Public Sector Projects and Programs in South Africa
(2026) Sityata, Sanele; Windapo, Abimbola
The study, titled “Evaluation of the Tools and Techniques Influencing the Culture of Benefits Realisation Management in Public Sector Projects and Programmes in South Africa,” aims to examine the tools and techniques associated with Benefits Realisation Management (BRM) and to determine their impact on the culture and success of BRM within public sector projects and programmes in South Africa. Specifically, the study seeks to identify the key tools and techniques used in BRM, assess the prevailing culture of benefits realisation management, and evaluate the level of success achieved in the realisation of benefits from public sector projects and programmes. Furthermore, the study investigates the extent to which the application of BRM tools and techniques impacts both the culture and success of benefits realisation management in the South African public sector. The study adopted a quantitative research design underpinned by a positivist research philosophy. A comprehensive literature review was conducted to identify the key tools and techniques associated with Benefits Realisation Management (BRM), as well as the factors influencing BRM culture and success. Primary data were collected through a structured survey questionnaire involving a convenience sample of 35 project and programme management practitioners within the South African public sector. The questionnaire gathered information on BRM tools and techniques, the utilisation of BRM tools and techniques, the prevailing benefits realisation culture, and the level of BRM success. The collected data were analysed using the Statistical Package for Social Sciences (SPSS), employing descriptive statistics, reliability analysis, correlation analysis, and regression analysis to examine the relationships between BRM tools and techniques, BRM culture, and BRM success. The findings indicate that Benefits Realisation Management (BRM) tools and techniques are widely utilised within the sampled public sector projects and programmes and that a positive BRM culture exists among the participating organisations. The study further established significant positive relationships between BRM tools and techniques, BRM culture, and BRM success. The results suggest that the effective application of BRM tools and techniques contributes to the strengthening of benefits realisation practices and supports the successful achievement of intended project and programme benefits. The study also found that BRM tools and techniques play a more influential role in predicting BRM success than organisational culture alone. Based on these findings, the study recommends that public sector organisations strengthen the institutionalisation of BRM through the adoption of structured tools, techniques, governance mechanisms, and performance management practices that support the realisation of benefits. The study further recommends greater integration of BRM into project, programme, and organisational management processes to enhance value delivery from public sector investments.
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Open Access
Assessment frameworks and teacher accountability in a primary school in Cape Town. Issues of professional regulation and social justice
(2026) Murphy, Henrico; Badroodien, Azeem Nur-Mohammed; Omar; Yunus
Assessment frameworks and teacher accountability at one primary school in Cape Town The study explores how the South African primary school assessment framework serves as a form of surveillance technology to hold teachers accountable for their classroom teaching in grades 4 to grade 6 at one Western Cape primary school. The critical focus is on assessment as a mechanism of surveillance, as well as accountability, and how this influences teacher practices and viewpoints. The study employs key concepts from the work of Jeremy Bentham and Michel Foucault to explore how surveillance is internalised, normalised, and operationalised in classrooms. Bentham's conceptualisation of the panopticon as an architectural surveillance mechanism foregrounds the study. It is used to show how the modern state has come to develop assessment frameworks as both acts of surveillance and that of utilitarianism (actions that apparently lead to ‘the greatest good for the greatest number'). It is argued that when placed alongside Foucault's (1995) work on discipline, monitoring, and punishment- namely ‘surveillance of the many by the few'- these concepts operate in ways that ensure the compliance of teachers in a strictly regulated profession. This study employed two complementary data collection methods: (1) a detailed questionnaire and (2) focus group interviews. The focus group interviews were used to triangulate and deepen the findings generated from the questionnaire data, while also providing rich, qualitative insights into how teachers interpret and make sense of assessment frameworks and assessment practices. Drawing on Foucauldian notions of discourse, surveillance, and disciplinary power, this study examines how assessment and accountability function to normalise teacher compliance within schools and embed regulatory control in teachers' everyday practices. By examining the intersecting discourses of assessment, surveillance, and accountability, this study sought to demonstrate how teacher compliance becomes normalised within school contexts and embedded in teachers' everyday practices. This normalisation operates in ways that constrain teacher agency and limit the substantive pedagogical contributions teachers are able to make towards meaningful teaching and learning. Assessment and accountability are shown to function as disciplinary technologies, operating through multiple ii forms of surveillance that emanate vertically from regulatory authorities and horizontally through collegial and community-based processes. Together, these mechanisms contribute to the production of what have been described as ‘somewhat docile teacher bodies' (Bourke, Lidstone & Ryan, 2015:85). The findings suggest that contemporary assessment frameworks in South African schools, particularly in the Western Cape, operate not merely as instruments of performance measurement but as technologies of datafication and dataveillance aligned with marketdriven logics of efficiency and control. As these regimes intensify, the object of governance increasingly becomes the digital representation of teachers and learners, rather than the lived pedagogical and learning experience. The study's main finding is that under threat of punishment and constant surveillance and as teachers internalise and embody assessment as a disciplinary accountability mechanism, levels of professional docility have risen to levels that hold serious implications for teacher agencies and their professional standing.