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Published on: March 30, 2014
Personalized care of paediatric drug-resistant epilepsy in Africa: A single-centre pilot study utilizing mobile
Ian S Olivier1,2,3, Karen Fieggen3, Sandra Komarzynski4
1Neuroscience Institute, University of Cape Town, Cape Town, South Africa.
Insights
This pilot study shows mobile health (mHealth) and genetic screening can aid precision medicine for paediatric drug-resistant epilepsy in South Africa. Findings offer insights for future diagnostic tools and understanding affected children.
Area of Science:
- Paediatric Neurology
- Genetics
- Digital Health
Background:
- Drug-resistant epilepsy significantly impacts children's lives.
- Limited resources in South Africa pose challenges for advanced epilepsy care.
- Personalized medicine approaches are emerging but underexplored in African paediatric settings.
Purpose of the Study:
- To evaluate the feasibility of precision medicine initiatives in a South African paediatric epilepsy clinic.
- To assess the utility of mobile health (mHealth) technology and genetic screening for managing drug-resistant epilepsy.
- To explore the application of these technologies in a resource-limited environment.
Main Methods:
- An exploratory prospective observational pilot study involving 39 children with drug-resistant epilepsy (aged 4+).
- Utilized mHealth technology (wearable device and app) for monitoring seizures, medication, sleep, and quality of life.
- Conducted genetic testing, including a customized gene panel and pharmacogenomic arrays.
Main Results:
- mHealth records showed significantly lower median monthly seizure frequency (2.0) compared to clinical records (8.0 and 5.5).
- Wearable devices indicated decreased activity and sleep in patients versus typically developing peers.
- Identified pathogenic variants in SCN1A and GRIN2A, and variants of interest in CYP2D6, EPHX1, and SCN1A.
Conclusions:
- Precision medicine, integrating mHealth and genetics, shows promise for treating drug-resistant epilepsy in resource-limited settings.
- This study is the first demonstration of precision medicine in an African paediatric context.
- Findings inform the development of diagnostic strategies and provide valuable genetic insights for affected children.
Aim:
To evaluate personalized care or precision medicine initiatives, including mobile health (mHealth) technology and genetic screening, in a South African paediatric epilepsy clinic.
Method:
This exploratory prospective observational pilot study included 39 children aged 4 years or older with drug-resistant epilepsy (ongoing seizures despite at least two antiseizure medications at adequate doses). Participants were recruited from the epilepsy service at the Red Cross War Memorial Children's Hospital in Cape Town, the largest paediatric hospital in sub-Saharan Africa. mHealth technology - a wearable device and mobile application - allowed recording of seizures, medication, sleep, mobility, quality of life, and health visits. Genetic testing included a customized gene panel and pharmacogenomic arrays.
Results:
Seizure frequency, but not duration, was significantly greater in clinical records before and during the study period (8.0 and 5.5 median seizures per month respectively) compared with mHealth records of 2.0 median seizures per month (n = 28, p < 0.001, r = 0.64, 95% confidence interval [CI] 2.62-14.25, Wilcoxon signed-rank test, and n = 21, p < 0.001, r = 0.76, 95% CI 2.25-15.75, Wilcoxon signed-rank test respectively). Wearable devices detected decreased activity and sleep in patients compared with age-matched typically developing peers (both p < 0.001, Mann-Whitney U test). Structural abnormalities were the most common aetiology. Pathogenic variants occurred in two different probands in SCN1A, one likely pathogenic variant in GRIN2A, and two variants of unknown significance in GABRG2 and GRIN2B. Pharmacogenomic analyses identified variants of interest in CYP2D6, EPHX1, and SCN1A.
Interpretation:
Precision medicine for drug-resistant epilepsy using mHealth and genetics may show use in a resource-limited setting. This study, the first demonstration of precision medicine in an African paediatric setting, informs the development of diagnostic testing and provides novel insights into the lives and genetics of affected children.
