Full Text Available
Note: Clicking the button above will open the full text document at the original institutional repository in a new window.
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
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...
Saved in:
| Main Author: | |
|---|---|
| Other Authors: | |
| Format: | Thesis |
| Language: | English English |
| Published: |
Department of Paediatrics and Child Health
2026
|
| Subjects: | |
| Tags: |
No Tags, Be the first to tag this record!
|
| _version_ | 1867613157691752448 |
|---|---|
| access_status_str | Open Access |
| author | Mkhize, Nondumiso |
| author2 | Wilmshurst, Joanne |
| author_browse | Mkhize, Nondumiso Wilmshurst, Joanne |
| author_facet | Wilmshurst, Joanne Mkhize, Nondumiso |
| author_sort | Mkhize, Nondumiso |
| collection | Thesis |
| description | 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. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/42521 |
| institution | University of Cape Town (South Africa) |
| language | English eng |
| last_indexed | 2026-06-10T12:31:41.113Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2026 |
| publishDateRange | 2026 |
| publishDateSort | 2026 |
| publisher | Department of Paediatrics and Child Health |
| publisherStr | Department of Paediatrics and Child Health |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/42521 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 Mkhize, Nondumiso Wilmshurst, Joanne Raga, Sharika Spinal muscular atrophy Burden of disease Neuromuscular database Children South Africa 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. 2026-01-09T11:53:57Z 2026-01-09T11:53:57Z 2025 2026-01-05T13:07:41Z Thesis / Dissertation Masters MMed http://hdl.handle.net/11427/42521 en eng application/pdf Department of Paediatrics and Child Health Faculty of Health Sciences University of Cape Town |
| spellingShingle | Spinal muscular atrophy Burden of disease Neuromuscular database Children South Africa Mkhize, Nondumiso 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 |
| thesis_degree_str | Master's |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | Spinal muscular atrophy Burden of disease Neuromuscular database Children South Africa |
| url | http://hdl.handle.net/11427/42521 |
| work_keys_str_mv | AT mkhizenondumiso analysisofthedemographicspathwaystodiagnosisburdenofdiseaseandlongtermoutcomesofpatientswithspinalmuscularatrophymanagedatredcrosswarmemorialchildrenshospital |