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Genetic Neuromuscular Disorders and Health Services Access, Utilization, and Needs in Zambia
Musambo M Kapapa1, David R Bearden2, Somwe Wa Somwe1
1University Teaching Hospital Neurology Research Office, Lusaka, Zambia.
Insights
Access to care for children with rare genetic neuromuscular diseases (GNMDs) in Zambia is limited. Disparities exist between recommended and utilized health services, highlighting the need for improved diagnostics and interventions.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Medical and rehabilitative care for rare genetic neuromuscular diseases (GNMDs) has advanced significantly in developed nations.
- However, a lack of data on GNMDs in sub-Saharan Africa risks exacerbating existing health inequities.
- This study addresses the critical need for information on pediatric GNMDs in this region.
Purpose of the Study:
- To investigate the current health service utilization and needs of children with rare genetic neuromuscular diseases (GNMDs) in Zambia.
- To identify disparities between recommended and accessed care for pediatric GNMD patients.
- To inform strategies for improving healthcare access and outcomes for GNMDs in sub-Saharan Africa.
Main Methods:
- A cross-sectional study was conducted with 50 probands diagnosed with GNMDs at the University Teaching Hospital in Lusaka, Zambia.
- Data collection involved interviews with probands/caregivers and independent assessments by a neuromuscular neurologist and physiotherapist.
- Diagnoses were based on available clinical and electrophysiologic data; molecular findings were not yet analyzed.
Main Results:
- The study included 50 probands (52% male, median age 12 years), with motor neuron diseases, muscle disorders, and inherited polyneuropathies being the most common diagnoses.
- A significant proportion of cases (15%) lacked sufficient data for definitive classification.
- Patient/caregiver-reported access to recommended health services outside of primary care was challenging for 69% of participants, revealing substantial gaps between recommended and actual care utilization.
Conclusions:
- Improved diagnostic and therapeutic paradigms are essential for managing rare genetic neuromuscular diseases (GNMDs) in Zambia.
- Establishing multidisciplinary clinics holds promise for enhancing access to and utilization of necessary health services.
- Further qualitative research is crucial to address referral pathways, access barriers, and the overall quality of care for pediatric GNMD patients in the region.
Background:
Medical and rehabilitative advances increasingly transform management of rare genetic neuromuscular diseases (GNMDs) for children in the global north. Lack of information about GNMDs and related health care needs in sub-Saharan Africa threatens to widen pre-existing health disparities.
Methods:
This is a cross-sectional study of probands enrolling in a study of GNMDs at the University Teaching Hospital in Lusaka, Zambia, a member of the International Consortium for Genomic Medicine in Neuromuscular Disease. Probands/caregivers were interviewed about utilization of medical, rehabilitative, and other support services by a research assistant. A neuromuscular neurologist and/or physiotherapist examined each case and completed an independent questionnaire regarding health service utilization for each proband. Diagnoses were made on available clinical and electrophysiologic data. Molecular findings were unavailable at the time of this analysis.
Results:
Among 50 probands, 52% were male with median age 12 (absolute range 2 months to 54 years). Motor neuron diseases (n = 16; 32%), muscle disorders (n = 20; 40%), and inherited polyneuropathies (n = 5; 10%) were most common. Six (15%) cases had insufficient clinical data to classify the GNMDs. Outside of primary care, patient/caregiver-reported access to recommended health services (n = 34; 69%) was challenging. Large disparities in current utilization of health care services versus clinician-recommended services are reported.
Conclusions:
Paradigms to improve access to diagnostics and therapeutic interventions are needed for GNMDs in Zambia. Multidisciplinary clinics may improve access and utilization of needed health services. Qualitative and other research focused on improving referrals, access, and quality of available health services are greatly needed.
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