Characteristics of tuberous sclerosis complex in a South African cohort : description and parental understanding

Includes bibliographical references (leaves 63-70).Tuberous 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

Education for children and adolescents living with disabilities in sub–Saharan Africa—The gaps and opportunities

The World Health Organization (WHO) defines disability as an umbrella term that covers impairments, activity limitations, and restrictions in participation (1). Disability is not considered a health problem, but rather an interaction between a person’s body functions and features of the environments in which they live (1). WHO report a higher prevalence of severe and moderate disabilities in Africa compared to other regions (1). The United Nations Children’s Fund (2021) provides a global estimate of 230 million children, ages 0–17 years, living with a disability with 28.9 million children found in Eastern and Southern Africa (2). More than half of these children live in rural settings and only about one third attend a primary school (1). Given the high birth rate of 22.6 births per 1,000 people in East Africa, and successful implementation of interventions that have significantly reduced the under-5 mortality rate in this region, the prevalence of childhood disability can only increase over time (3, 4). This is a pertinent current and future issue given that the estimated likelihood of a child having a disability before their fifth birthday is 10 times higher than the likelihood of dying (377.2 vs. 38.2 per 1,000 live births

Health-related Quality of Life of Children with Gastro-oesophageal Reflux Disease after Nissen Fundoplication and Gastrostomy Tube Insertion

Introduction: Severe gastro‑oesophageal reflux disease (GERD) is associated with a poor health‑related quality of life (HRQoL). Nissen fundoplication is the most common surgical procedure for patients with GERD. A feeding gastrostomy tube may be inserted at the same time in selected patients where there are unsafe swallowing and/or feeding difficulties. The goals of surgery are to eliminate symptoms, prevent reflux complications and ultimately improve the quality of life. The main objective of this study was to assess the HRQoL of children with GERD after Nissen fundoplication and gastrostomy tube insertion. Materials and Methods: This was an observational retrospective cohort study at two private, not‑for‑profit tertiary hospitals in Nairobi. The study population included children under 18 years of age with GERD who had Nissen fundoplication with or without gastrostomy tube insertion from January 2010 to December 2020. The quality of life was assessed from the caretakers using the Paediatric Quality of Life Inventory applied through a telephone call. Data analysis was done using SPSS version 26. The HRQoL was summarised using mean and standard deviation (SD) with a 95% confidence interval (CI) around the scores. Independent samples t‑test was conducted to compare the means of HRQoL for gender, complications and comorbidities. Spearman’s correlation was done for HRQoL and age. Results: Eighty‑two children were included in the study. Eighty‑four per cent had comorbidities, with almost three‑quarters of them having neurological impairment. Majority (91%) had open Nissen fundoplication, while 9% had laparoscopic Nissen fundoplication. One‑third of these children reported complications post‑procedure. Nissen fundoplication failure rate was 10%. Two‑thirds had a concurrent gastrostomy tube insertion. The global mean HRQoL score was 75.8 (SD: 23.5, 95% CI: 70.4–81.2). Gastrostomy tube insertion had no impact on the quality of life. Children with neurological impairment had significantly lower quality of life than those without neurological impairment. Conclusion: The global score of the HRQoL following Nissen fundoplication in this cohort of children was 75.8. Further studies to reduce the proportion of children who experience complications postoperatively in this setting are required

Risk factors for seizure recurrence after initial withdrawal of anti-seizure medications in children with epilepsy at Aga Khan University Hospital, Nairobi, Kenya

Objectives: We sought to determine risk factors associated with seizure recurrence following initial withdrawal of anti-seizure medications (ASM) among children with epilepsy. Methods: This was a retrospective observational study of children aged between 2 and 18 years with a diagnosis of epilepsy who underwent withdrawal of anti-seizure medication following remission of seizures. All eligible medical records between January 2011 and December 2019 were included. Demographic, clinical, imaging and electroencephalography data of all eligible patients were analyzed against seizure remission within 24 months after withdrawal of ASM, using appropriate parametric and non-parametric tests. Results: A total of 49 records of children who underwent withdrawal of ASM out of a total of 613 patients on follow up during the same period were included. The median age at ASM withdrawal was 70 months (IQR 52–112 months) and 14 (28.6%) were female. Thirteen patients (26.5%) had seizure recurrence within 24 months following withdrawal of ASM. Focal onset seizure type was associated with significant risk of seizure recurrence (OR 13.7; 95% CI 0.97, 193.54; P value = 0.011). Age at epilepsy diagnosis, abnormal EEG at initiation of treatment and at the time of de-escalation, abnormal MRI findings, first or second degree relative with epilepsy, history of developmental delay, seizure burden, use of 2 or more ASMs and duration of seizure-freedom before de-escalation of ASM were not associated with increased risk of relapse. Conclusion: Focal onset seizure type is associated with increased with risk of seizure recurrence in this cohort

Parental Understanding of Tuberous Sclerosis Complex

Tuberous sclerosis complex is a genetic disorder with multisystem involvement that poses significant challenges to the affected child and family. Caregiver knowledge in the South African population has not previously been reported. A prospective study of the parents of 21 children with tuberous sclerosis complex was undertaken. Median parental age was 38 (interquartile range 34.5-45) years. Parents were randomly allocated to receive written information about the condition, or to receive verbal counselling already established in clinic. A significant difference (P ¼ .001) was observed in the change in the mean knowledge scores for the parent group that received written information (34.2 at baseline, 51.7 at the second visit. This impact was higher in parents with an education level of at least grade 8 (P ¼ .003). Parental understanding of tuberous sclerosis complex can be improved by provision of written information and should be routinely available in a readily understandable format

Pediatric cerebral palsy in Africa: A systematic review

Cerebral palsy is a common neurologic problem in children and is reported as occurring in approximately 2-2.5 of 1000 live births globally. As is the case with many pediatric neurologic conditions, very little has been reported on this condition in the African context. Resource-limited settings such as those found across the continent are likely to result in a different spectrum of etiologies, prevalence, severity as well as management approaches. This review aims to establish what has been reported on this condition from the African continent so as to better define key clinical and research questions

Tuberous sclerosis complex in the Western Cape, South Africa: The clinical presentation features

Tuberous sclerosis complex (TSC) is a genetic neurocutaneous condition, which affects multiple organ systems. This study aimed to determine the presenting features of children with TSC in Cape Town, South Africa. A cross-sectional study was conducted at a TSC clinic, and clinical features at presentation were prospectively collected. Thirty-nine children (23 boys; median age 10 (range 1 - 26) years; median diagnosis age 16 (0 - 153) months) were recruited. Twenty-one (54%) children presented with focal seizures. Seven (18%) children had epileptic spasms. Skin manifestations led to a diagnosis in 13 (33%) and neuroimaging in 22 (56%) children. Antenatal screening detected cardiac rhabdomyomas in 3 children. One child had a positive family history. In the paediatric service, TSC diagnosis usually followed neuroimaging, whereas at the neurology service skin manifestations indicated TSC. In conclusion, most children with TSC presented as emergency cases with seizures. Health practitioner awareness of the common TSC clinical signs was lacking, with the diagnosis often delayed

Effect of a voice recognition system on pediatric outpatient medication errors at a tertiary healthcare facility in Kenya

Background: Medication-related errors account for one out of every 131 outpatient deaths, and one out of 854 inpatient deaths. The risk is threefold greater in the pediatric population. In sub-Saharan Africa, research on medication-related errors has been obscured by other health priorities and poor recognition of harm attributable to such errors. Our primary objective was to assess the effect of introduction of a voice recognition system (VRS) on the prevalence of medication errors. The secondary objective was to describe characteristics of observed medication errors and determine acceptability of VRS by clinical service providers. Methods: This was a before–after intervention study carried out in a Pediatric Accident and Emergency Department of a private not-for-profit tertiary referral hospital in Kenya. Results: A total of 1196 handwritten prescription records were examined in the pre-VRS phase and 501 in the VRS phase. In the pre-VRS phase, 74.3% of the prescriptions (889 of 1196) had identifiable errors compared with 65.7% in the VRS phase (329 of 501). More than half (58%) of participating clinical service providers expressed preference for VRS prescriptions compared with handwritten prescriptions. Conclusions: VRS reduces medication prescription errors with the greatest effect noted in reduction of incorrect medication dosages. More studies are needed to explore whether more training, user experience and software enhancement would minimize medication errors further. VRS technology is acceptable to physicians and pharmacists at a tertiary care hospital in Kenya

The ethical and validity conundrum in epilepsy research in LMIC settings

In the last few decades, research in epilepsy has significantly improved understanding of risk factors and etiologies associated with epilepsy, promoting greater access to interventions and medications that have improved health-related outcomes for patients. However, these advances and benefits are not being felt evenly on a global scale due to significant inequalities in access to and utilization of research resources and expertise in Low-and Middle-Income Countries (LMICs). To promote effective research output, and advance evidence-based practices; the context, disease burden, and challenges that hinder good research need to be re-defined and addressed. This is key in facilitating implementation of coherent priorities and strategies in epilepsy research in LMICs; and in facilitating the conduct of scientifically and ethically valid research. This paper explores the capacity, ecosystem, and ethical issues that are at play and that need to be addressed to support better evidence generation and utilization in epilepsy care in LMICs

The ethical and validity conundrum in epilepsy research in LMIC settings

In the last few decades, research in epilepsy has significantly improved understanding of risk factors and etiologies associated with epilepsy, promoting greater access to interventions and medications that have improved health-related outcomes for patients. However, these advances and benefits are not being felt evenly on a global scale due to significant inequalities in access to and utilization of research resources and expertise in Low-and Middle-Income Countries (LMICs). To promote effective research output, and advance evidence-based practices; the context, disease burden, and challenges that hinder good research need to be re-defined and addressed. This is key in facilitating implementation of coherent priorities and strategies in epilepsy research in LMICs; and in facilitating the conduct of scientifically and ethically valid research. This paper explores the capacity, ecosystem, and ethical issues that are at play and that need to be addressed to support better evidence generation and utilization in epilepsy care in LMICs