Abstract
Cohen Syndrome (CS) is a rare autosomal recessive genetic disorder caused by mutations in the VPS13B gene, which plays a critical role in the Golgi Complex. The syndrome is characterised by a range of physical, cognitive, and socio-emotional challenges, necessitating early diagnosis and intervention for affected children and their families. Given the rarity of CS and the limited availability of research and psychoeducational support, this study proposed to move beyond the medical diagnosis to explore the psychoeducational needs of a child diagnosed with CS within the context of inclusive education in South Africa (SA). Guided by an interpretivist paradigm, the study employed a qualitative research approach utilising a single-descriptive case study design. Data were collected through a semi-structured audio-recorded interview with the parent of a child diagnosed with CS, complemented by the researcher’s field notes, historical unobtrusive observations, and an analysis of relevant literature and documentation. A thematic content analysis was conducted using an adaptation of Braun and Clarke’s six-step framework. Findings indicate that children with CS experience developmental challenges across multiple domains and require substantial support and intervention. However, access to these resources is contingent upon their availability, accessibility, and affordability. Raising awareness of the clinical features of CS may enable educational psychologists to recommend genetic testing for earlier diagnosis and multi- disciplinary, targeted intervention. Moreover, a comprehensive understanding of the challenges faced by children with CS can inform psychoeducational strategies, allowing educational psychologists to provide system-wide support within the child’s educational and familial contexts.