Browsing by Author "Wilmshurst, Joanne"

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    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
    (2025) Mkhize, Nondumiso; Wilmshurst, Joanne; Raga, Sharika
    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.
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    Demographic and aetiological factors of paediatric status epilepticus at Red Cross War Memorial Children's Hospital: 2016-2018
    (2023) Nsanta, Sarahlouise; Wilmshurst, Joanne; Ascott Heloise
    Background: Status epilepticus is a common medical neurological emergency in childhood which is often serious and life threatening. There is paucity of data with regard to aetiology and demographics of affected children in resource-limited countries. Objective: To describe the demographics and the common causes of convulsive status epilepticus in our paediatric population. Methods: A retrospective review of the clinical records of children who presented in convulsive status epilepticus to the medical emergency department (ED) of Red Cross War Memorial Children's Hospital (RCWMCH), in Cape Town, South Africa, between May 2016 and May 2018 was completed. Demographics, clinical characteristics and characterisation of convulsive status epilepticus were assessed. Results: Of 119 children, 63 (53%) were male; their median age was 29.6 (IQR 14.8-76.1) months: 22 (18%) were under one year of age, 63 (53%) were 1-5 years, and 34 (29%) >5 years. There were 31 (26%) children who were moderately-severely underweight-for-age; 5 (4%) children were HIV-infected. Fifty (42%) children were known to have epilepsy of whom ten reported poor compliance with their antiseizure medication, 20 (17%) children had cerebral palsy, 40 (34%) had developmental delay, and nine (8%) had a history of previously treated tuberculosis (TB)- of whom six had pulmonary TB, one TBM, one with extrapulmonary TB and one with disseminated TB. During the captured episode of CSE, 55 (51%) children were brought by ambulance, the rest self-presented using private or hired transport; 33 children received a benzodiazepine agent pre-hospital, 19 had aborted by the time of arrival at hospital, but 72 (62%) required antiseizure medication in the ED. In their seizure semiology, 82 (71%) children had generalised convulsive seizures and 34 (29%) had focal seizures; with 85 (73%) being prolonged events and 32 (27%) being multiple events. Aetiology according to ILAE classified 74 (62%) as secondary to acute infective cause, 12 (10%) had an electroclinical syndrome, 9 (8%) were remote and 25 (22%) were unknown. A recorded tympanic membrane temperature of ≥38°C was found in 41 (37%) of 112 children, supporting febrile status epilepticus in these children. Imaging was undertaken in 45/119 (38%), with 28 (62%) being abnormal. Cerebral spinal fluid findings were abnormal in 7 (12%) of 57 children who had lumbar puncture done and there were no deaths in the cohort. Most children, 87 (73%), were stabilised adequately for admission in the short stay ward, however eight required admission to ICU. Conclusion: Acute infections are the most common cause of CSE in our setting with the highest proportion of children presenting in the infantile age range, this is concordant with other studies, but our results show a higher percentage of infective causes.
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    Expression of genetic peripheral neuropathies in South African Children
    (2024) Kandawasvika, Quetoline; Wilmshurst, Joanne
    Genetic peripheral neuropathies are described in European ancestries, with a population prevalence of 1:2500-1:10000. However, these diseases are under-reported and poorly understood in African populations. Definite, probable and suspected genetic peripheral neuropathy cases, were characterized from children based in an African setting. A hospital based retrospective cross-sectional study was conducted through a referral neuromuscular disease centre in South Africa. Diagnostic work-up consisted of clinical, neurophysiology, where available histology and genetics screens. Of 63 recruited children, 19 % had definite (genetic confirmed) and 81% probable (neurophysiology and or histology confirmed) hereditary causes for neuropathy. Of the 63 individuals, 12 (19 %) were of African, 26 (41 %) Mixed, 24 (38%) European, 1(2%) Asian ancestry. 52% were females. Twelve with genetic confirmation consisted of seven CMT1A (PMP22 dup), two IGHMBP2, one MFN2, one SLC12A6 and one SLC52A3. Most children had axonal type of neuropathy (79.4 %): affecting African 11/12, Mixed 17/26, European 21/24 ancestries. Axonal neuropathy is the most common genetic neuropathy manifesting in children of African ancestry in South Africa. CMT1A was not identified in children of African ancestry.