Analysis of The Demographics, Pathways to Diagnosis, Burden of Disease and Long-term Outcomes of Patients with Spinal Muscular Atrophy Managed at Red Cross War Memorial Children's Hospital

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dc.contributor.advisorWilmshurst, Joanne
dc.contributor.advisorRaga, Sharika
dc.contributor.authorMkhize, Nondumiso
dc.date.accessioned2026-01-09T11:53:57Z
dc.date.available2026-01-09T11:53:57Z
dc.date.issued2025
dc.date.updated2026-01-05T13:07:41Z
dc.description.abstractSpinal muscular atrophy (SMA) is an autosomal recessive disorder of anterior horn cell degeneration which results in symmetrical muscle weakness that affects multiple systems. This study was conducted to determine the burden of disease of SMA on children under the neuromuscular service at Red Cross War Memorial Children's Hospital. A quantitative retrospective audit identified 86 DNA confirmed patients with SMA who attended the service from 2000 to August 2023. Thirty-six medical folders were accessible, 6 were excluded and 50 had been destroyed. An in-depth analysis of 30 folders showed a median age of diagnosis of 3.5 months for SMA1 (4 patients), 19 months for SMA2 (17 patients) and 34 months for SMA3 (9 patients). Five patients had demised and 4 were transferred to adult services. Over the study period, 172 chest infections were reported among the 30 children with SMA. Forty-three percent required home ventilation, 70% had scoliosis, 70% had contractures, 33% received feeding support via a percutaneous endoscopic gastrostomy tube and 44% of SMA3 patients had lost ambulation. Our SMA numbers are less than expected and delays in diagnosis were common. Strategies to improve diagnosis and minimize delays are needed and retaining medical records will provide more comprehensive insights on the long-term outcomes.
dc.identifier.apacitationMkhize, N. (2025). <i>Analysis of The Demographics, Pathways to Diagnosis, Burden of Disease and Long-term Outcomes of Patients with Spinal Muscular Atrophy Managed at Red Cross War Memorial Children's Hospital</i>. (). University of Cape Town ,Faculty of Health Sciences ,Department of Paediatrics and Child Health. Retrieved from http://hdl.handle.net/11427/42521en_ZA
dc.identifier.chicagocitationMkhize, Nondumiso. <i>"Analysis of The Demographics, Pathways to Diagnosis, Burden of Disease and Long-term Outcomes of Patients with Spinal Muscular Atrophy Managed at Red Cross War Memorial Children's Hospital."</i> ., University of Cape Town ,Faculty of Health Sciences ,Department of Paediatrics and Child Health, 2025. http://hdl.handle.net/11427/42521en_ZA
dc.identifier.citationMkhize, N. 2025. Analysis of The Demographics, Pathways to Diagnosis, Burden of Disease and Long-term Outcomes of Patients with Spinal Muscular Atrophy Managed at Red Cross War Memorial Children's Hospital. . University of Cape Town ,Faculty of Health Sciences ,Department of Paediatrics and Child Health. http://hdl.handle.net/11427/42521en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - Mkhize, Nondumiso AB - Spinal muscular atrophy (SMA) is an autosomal recessive disorder of anterior horn cell degeneration which results in symmetrical muscle weakness that affects multiple systems. This study was conducted to determine the burden of disease of SMA on children under the neuromuscular service at Red Cross War Memorial Children's Hospital. A quantitative retrospective audit identified 86 DNA confirmed patients with SMA who attended the service from 2000 to August 2023. Thirty-six medical folders were accessible, 6 were excluded and 50 had been destroyed. An in-depth analysis of 30 folders showed a median age of diagnosis of 3.5 months for SMA1 (4 patients), 19 months for SMA2 (17 patients) and 34 months for SMA3 (9 patients). Five patients had demised and 4 were transferred to adult services. Over the study period, 172 chest infections were reported among the 30 children with SMA. Forty-three percent required home ventilation, 70% had scoliosis, 70% had contractures, 33% received feeding support via a percutaneous endoscopic gastrostomy tube and 44% of SMA3 patients had lost ambulation. Our SMA numbers are less than expected and delays in diagnosis were common. Strategies to improve diagnosis and minimize delays are needed and retaining medical records will provide more comprehensive insights on the long-term outcomes. DA - 2025 DB - OpenUCT DP - University of Cape Town KW - Spinal muscular atrophy KW - Burden of disease KW - Neuromuscular database KW - Children KW - South Africa LK - https://open.uct.ac.za PB - University of Cape Town PY - 2025 T1 - Analysis of The Demographics, Pathways to Diagnosis, Burden of Disease and Long-term Outcomes of Patients with Spinal Muscular Atrophy Managed at Red Cross War Memorial Children's Hospital TI - Analysis of The Demographics, Pathways to Diagnosis, Burden of Disease and Long-term Outcomes of Patients with Spinal Muscular Atrophy Managed at Red Cross War Memorial Children's Hospital UR - http://hdl.handle.net/11427/42521 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/42521
dc.identifier.vancouvercitationMkhize N. Analysis of The Demographics, Pathways to Diagnosis, Burden of Disease and Long-term Outcomes of Patients with Spinal Muscular Atrophy Managed at Red Cross War Memorial Children's Hospital. []. University of Cape Town ,Faculty of Health Sciences ,Department of Paediatrics and Child Health, 2025 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/42521en_ZA
dc.language.isoen
dc.language.rfc3066eng
dc.publisher.departmentDepartment of Paediatrics and Child Health
dc.publisher.facultyFaculty of Health Sciences
dc.publisher.institutionUniversity of Cape Town
dc.subjectSpinal muscular atrophy
dc.subjectBurden of disease
dc.subjectNeuromuscular database
dc.subjectChildren
dc.subjectSouth Africa
dc.titleAnalysis of The Demographics, Pathways to Diagnosis, Burden of Disease and Long-term Outcomes of Patients with Spinal Muscular Atrophy Managed at Red Cross War Memorial Children's Hospital
dc.typeThesis / Dissertation
dc.type.qualificationlevelMasters
dc.type.qualificationlevelMMed
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