Browsing by Author "Wilmshurst, Jo"
Now showing 1 - 10 of 10
Results Per Page
Sort Options
- ItemOpen AccessCharacteristics and outcome of children with juvenile dermatomyositis in Cape Town: a cross-sectional study(2016) Okong’o, Lawrence Owino; Esser, Monika; Wilmshurst, Jo; Scott, ChristiaanAbstract Background Juvenile dermatomyositis (JDM) is a rare idiopathic inflammatory childhood myopathy of uncertain aetiology. The demographic and clinical presentation of JDM may differ by race and geographic regions. Few studies have described the characteristics of JDM patients from Africa. Methods We conducted a retrospective observational study to determine clinical characteristics and outcomes of patients satisfying the Bohan and Peter criteria for probable JDM seen between 2004 and 2013 in three hospitals in Cape Town, South Africa. Results Twenty five cases were identified: 16 female and 9 male; thirteen (52 %) were of indigenous African, eleven (44 %) mixed and one (4 %) European ancestry. The median ages at disease onset and diagnosis were 6.75 (range 2.0–9.7) and 7.9 (range 3.4–9.75) years respectively. Eleven patients had calcinosis while the mortality was 2/25 (8 %). Only 40 % of the patients had clinically inactive disease by PRINTO criteria (modified) at last review. There was no statistically significant difference in racial distribution (p-value = 1), age at disease onset (p-value = 0.87) and disease duration prior to treatment initiation (p-value = 0.75) between patients who had clinically active and inactive disease. Conclusion The demographic characteristics of children with JDM were similar to that from most other regions of the world with female predominance and similar age at onset. Majority of the patients remained with clinically active disease, which put them at risk of further disease complications. Long term follow up and use of appropriate treatment guidelines may be indicated in management of JDM patients for optimum treatment outcomes.
- ItemOpen AccessCharacteristics and outcome of children with juvenile dermatomyositis in Cape Town: a cross-sectional study(BioMed Central, 2016-11-11) Okong’o, Lawrence O; Esser, Monika; Wilmshurst, Jo; Scott, ChristiaanBackground: Juvenile dermatomyositis (JDM) is a rare idiopathic inflammatory childhood myopathy of uncertain aetiology. The demographic and clinical presentation of JDM may differ by race and geographic regions. Few studies have described the characteristics of JDM patients from Africa. Methods: We conducted a retrospective observational study to determine clinical characteristics and outcomes of patients satisfying the Bohan and Peter criteria for probable JDM seen between 2004 and 2013 in three hospitals in Cape Town, South Africa. Results: Twenty five cases were identified: 16 female and 9 male; thirteen (52 %) were of indigenous African, eleven (44 %) mixed and one (4 %) European ancestry. The median ages at disease onset and diagnosis were 6.75 (range 2.0–9.7) and 7.9 (range 3.4–9.75) years respectively. Eleven patients had calcinosis while the mortality was 2/ 25 (8 %). Only 40 % of the patients had clinically inactive disease by PRINTO criteria (modified) at last review. There was no statistically significant difference in racial distribution (p-value = 1), age at disease onset (p-value = 0.87) and disease duration prior to treatment initiation (p-value = 0.75) between patients who had clinically active and inactive disease. Conclusion: The demographic characteristics of children with JDM were similar to that from most other regions of the world with female predominance and similar age at onset. Majority of the patients remained with clinically active disease, which put them at risk of further disease complications. Long term follow up and use of appropriate treatment guidelines may be indicated in management of JDM patients for optimum treatment outcomes.
- ItemOpen AccessCharacteristics of tuberous sclerosis complex in a South African cohort : description and parental understanding(2009) Samia, Pauline Wangechi; Wilmshurst, Jo; Schlegel, BirgitTuberous sclerosis complex (TSC) is a genetically inherited condition that manifests with benign non-invasive tumours or hamartomas in multiple organ systems. The condition is of autosomal dominant inheritance with an estimated incidence of 1 in 6000 live births. Population based studies estimate the prevalence of TSC to be 1 per 14, 492 population. TSC has myriad presentations but 80 to 90% of these children have seizure disorders. The prevalence of learning disabilities in children with TSC ranges from 38% to 80%. Pervasive developmental disorders (PDD) and attention deficit hyperactivity disorder have been identified in half of the children with TSC. Cutaneous manifestations occur in more than 90% of TSC patients. Cortical tubers, cardiac rhabdomyomas and renal angiomyolipomas are other lesions associated with TSC in children. Currently TSC has no cure and associated complications manifest with advancing age. Parents are faced with the challenge of life long care for these children. Half of the parents of children with TSC suffer significant psychological stress. Child specific factors, health literacy, and social stability are some factors known to impact on parental understanding of a child's chronic illness. Data specific to parental understanding of TSC are limited. Methodology: A retrospective case note review was performed to obtain the patient demographic and clinical presentation data. A prospective observational study provided the parental background characteristics and information on their understanding of TSC. Results: A total of 31 patient case notes were included in the review. The median patient age at the time of data was 132 months (IQR 96.00). The male: female ratio was 4:1. Seizures were observed in 27 patients (87.1%). Infantile spasms were reported in 3 (9.6%) patients while partial seizures occurred in 11 (35.5%) patients. More than one anticonvulsant was required in 15 (48.4%) of the 27 patients with seizures. Fourteen (53.8%) had global developmental delay. Two children (6.4%) were both hyperactive and aggressive and six (19.3%) were considered hyperactive. Aggressive behaviour was observed in four (12.9%) other children. Parents of 21 patients gave consent to participate in the study. The median parental age was 38 years (IQR 10.5). Seven parents (33.3%) had attained a primary level of education. Secondary education was attained by ten parents (47.6%) and three (14.3%) had received tertiary education. A statistically significant difference, p value =0.001, was observed in the change in the level of knowledge on comparison between the parent group that received a leaflet and the one that did not. A parental level of education of grade 8 was associated with a significantly higher baseline knowledge score (p value = 0.045) and a significantly greater change in the level of knowledge score (p value = 0.003). No association was detected between a parent's duration of clinic attendance and the baseline level of knowledge (p value = 0.63) There was no association between a parents baseline level of knowledge and their assessment of the impact of TSC on their child. (p value = 0.61). Conclusions and recommendations: The clinical profile of the cohort of children seen at the Red Cross Children's Hospital is similar to that of other cohorts described in literature. Parental understanding of TSC can be improved by provision of written information for those with at least a grade eight level of education. The information leaflet used in this study can be used to educate parents of children with TSC.
- ItemOpen AccessEpileptic Spasms: Evidence for oral corticosteroids and implications for low and middle income countries (Systematic Review)(University of Cape Town, 2020) Raga, Sharika Vinod; Wilmshurst, JoImplementation of international guidelines for the treatment of epileptic spasms, is challenging when access to adrenocorticotrophic hormone (ACTH) and vigabatrin is restricted, especially in Low and Middle Income Countries (LMIC). Oral corticosteroids are alternative interventions but evidence for the optimal agent, dose, duration, efficacy and long-term effects are lacking. A systematic review of the literature was performed to assess the quality of evidence of prednisone and prednisolone (oral corticosteroids) for the management of epileptic spasms. There is level C recommendation based on class III evidence to support the efficacy of oral corticosteroids for the acute clinical control of epileptic spasms and EEG resolution. Efficacy of oral corticosteroids in comparison to the internationally recommended intervention of ACTH has class IV evidence supporting level U recommendation. Similarly, there is no data on the risk of relapse with oral corticosteroids (class IV, level U), compared to ACTH. There is class IV evidence supporting level U recommendation for the safety of oral corticosteroids and class II evidence for level B recommendation for ACTH. In terms of oral corticosteroids and effects on long-term development there is class IV evidence leading to level U recommendation, compared to class III evidence supporting level C recommendation for ACTH. Randomized controlled studies are needed to compare oral corticosteroids with ACTH, the optimal dosage and regimen as well as the long-term neurodevelopmental outcomes. Based on the limited existing studies a treatment guideline for LMIC is proposed which could be used to standardize interventions permitting clarification of these unmet questions.
- ItemOpen AccessThe impact of HIV infection on the nervous system of children(BioMed Central, 2008-09-23) Eley, Brian; Wilmshurst, JoAt the end of 2007, 33.2 million people including 2.5 million children were living with HIV; > 85% of HIV-infected children were in Africa. At the end of 2006, 115 000 children were on HAART, a global coverage rate of 15% with sub-Saharan Africa having the lowest regional coverage. HIV affects the immature brain causing static or progressive encephalopathy (PE). PE is characterized by acquired microcephaly, failure to attain or loss of neurodevelopmental milestones, or loss of intellectual ability, and acquired symmetric motor defects. Isolated neurodevelopmental delays and peripheral nervous system disease occur as a direct consequence of HIV infection.
- ItemOpen AccessIntellectual and behavioural functioning in boys with Duchenne Muscular Dystrophy : neuropsychological testing and correlation with genotype(2008) Donald, Kirsten Ann Mary; Wilmshurst, Jo; Thomas, KevinThe spectrum of central nervous system manifestations of DMD is less well described than its musculoskeletal aspects. Although international studies have reported intellectual function ranging from above-average to severe intellectual disability, they have consistently found the average full-scale IQ of affected boys to be reduced by approximately one standard deviation. Fewer reports are available for DMD boys in the pre-school age group. There is also limited data on the behavioural profile of boys with this condition. No material on these aspects of DMD in South African children has been published to date. This pilot case control study aimed to determine the neurocognitive and behavioural phenotype of a cohort of South African children with a confirmed diagnosis of Duchenne muscular dystrophy as compared to the profile of a matched control cohort of children.
- ItemOpen AccessIntractable epilepsy in South African children based on criteria defined by the international league against epilepsy (ILAE)(2011) Alkhaldi, Hani M; Wilmshurst, JoIncludes abstract. Includes bibliographical references.
- ItemOpen AccessPeripheral neuropathies of childhood(2009) Wilmshurst, Jo; Ouvrier, Robert; Sinclair-Smith, C C; Zar, HeatherPeripheral nerve disease was described by Galen (AD 130-200) over a thousand years ago.(3) Detailed anatomical illustrations were documented by Andreas Vesalius in his major work 'De humani corporis fabrica' in 1543.(4) Over the last two centuries an explosion in knowledge in the area has occurred, with a further exponential increase in the last 20 years mostly related to understandings in the field of molecular genetics.(5) Although some degree of diagnostic closure was possible for a number of the hereditary peripheral neuropathies, this has not been the end point of knowledge but only the beginning.
- ItemOpen AccessProfile of specific neurological and neurobehavioural problems in children with HIV-1 infection attending dedicated clinics(2010) Govender, Rajeshree; Wilmshurst, JoAim: Neurological involvement related to HIV-1 infection is well described in the paediatric population and causes significant morbidity and mortality. This study aimed to describe specific neurological and neurobehavioural complications in this population. Method: Children infected with HIV-1 attending infectious diseases clinics were recruited for general and neurological assessments, developmental history screening and categorization of behavioural phenotype using the Aberrant Behaviour Checklist (ABC). Results: Eighty patients were assessed (males - 44/80: females - 36/80) (median age 5 years 1 month; range: 3 months - 12 yrs). Eighteen patients (23%) were not on antiretroviral (ARV) therapy at the time of testing. The Centre for Disease Control (CDC) immune categories of the patients at the time of assessment were: Category 1- n=6/80, Category 2- n=15/80 and Category 3- n=59/80. Thirty-three percent had a history of chronic lung disease, 10% had a history of an opportunistic central nervous system infection and 12.5% had epilepsy. 5 5 Anthropometric measurements identified that 19% of the patients were microcephalic, 17% of the patients were < 60% of their expected weight, 49% were 60-80% of expected weight and 45% were stunted. On neurological assessment 41% of the patients had global pyramidal tract signs, 7% had a hemiparesis, 5% had peripheral neuropathy, 16% had visual impairment, and 6% were hearing impaired. Of those who were screened for developmental deficits (patients < 6years of age) 66% had gross motor delay, 75% had fine motor delay, 70% had language delay and 73% had cognitive delay. Forty one percent had HIV Encephalopathy, 81% of whom a CD4 count < 15% and 48% were < 1year old. On the aberrant behaviour checklist (ABC) scale 24/80 patients had features of hyperactivity and 22/80 patients scored in the mild-moderate range on the lethargy / social withdrawal sub-scale reflecting a correlation with the affective and adjustment disorders. Conclusion: Diverse neurological and neurobehavioural deficits are common in children with HIV-1 infection especially those with CD4 < 15%, not on ARVs, with growth impairment and < 1yr of age. This study demonstrated the extent and spectrum of neurobehavioural and neurological complications in a defined HIV population. It stresses the need for early initiation of ARVs in the planning for future regimens and guidelines.
- ItemOpen AccessThe impact of HIV infection on the nervous system of children(2008-09-23) Eley, Brian; Wilmshurst, JoAt the end of 2007, 33.2 million people including 2.5 million children were living with HIV; > 85% of HIV-infected children were in Africa. At the end of 2006, 115 000 children were on HAART, a global coverage rate of 15% with sub-Saharan Africa having the lowest regional coverage. HIV affects the immature brain causing static or progressive encephalopathy (PE). PE is characterized by acquired microcephaly, failure to attain or loss of neurodevelopmental milestones, or loss of intellectual ability, and acquired symmetric motor defects. Isolated neurodevelopmental delays and peripheral nervous system disease occur as a direct consequence of HIV infection. Susceptibility to opportunistic infection (OI), due to systemic immunodeficiency, predisposes HIV-infected children to CNS infections including acute bacterial and tuberculous meningitis, CMV co-infection, EBV-associated primary lymphoma and in older children cryptococcal meningitis. HAART may induce an immune reconstitution inflammatory response to several microorganisms including mycobacterium tuberculosis and JC virus, causing CNS deterioration. Neurological manifestations occur in 20– 80% of HIV-infected children. Complex clinical presentations may be difficult to classify with the layering effect of multiple pathologies. There are limited descriptive studies from resource-constrained countries. In one hospitalbased, cross-sectional survey (n = 80, median age = 5.2 years), 60% had a variety of neurological and neurodevelopmental deficits. The neuropathogenesis of HIV encephalopathy is incompletely understood. Several pathogenic events are involved including (1) CNS invasion following receptor/ co-receptor-mediated HIV infection of monocytes/macrophages and CD4+ T-lymphocytes, (2) promotion of HIVinfected PBMC trafficking across the BBB by astrocytes and microglia (Trojan-horse effect), (3) neurotoxin elaboration induced by viral factors and inflammatory mediators, (4) CD4-independent astrocyte invasion by HIV, (4) neuronal death mediated through viral-induced chemokine receptor expression, and microglial/macrophagedependent and microglial-independent apoptotic death, and (5) inhibition of neural stem cell proliferation by viral gp120. Both direct and indirect mechanisms are involved in neuronal injury and death. Early initiation of HAART during infancy prevents the development of HIV encephalopathy, lowering the prevalence of progressive encephalopathy to < 2%. HAART reverses existing neurological abnormalities, although not completely, resulting in residual motor and cognitive sequelae (arrested PE) and consequent scholastic impairments. HAART also reduces the frequency of OIs and malignancy. In conclusion, HIV-associated nervous system disease remains highly prevalent in settings where treatment is sub-optimal. Implementation of HAART during infancy and additional prophylaxis against OIs such as p