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

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 / Dissertation

2025

Publisher

University of Cape Town

Department

Department of Paediatrics and Child Health

Faculty

Faculty of Health Sciences

Abstract

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.