Genetic Neuromuscular Disorders and Health Services Access, Utilization, and Needs in Zambia.

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.

Informations de copyright

Copyright © 2023 Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of competing interest Musambo Kapapa: Ms. Kapapa is supported by an MRC strategic award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) MR/S005021/1. Dr. Bearden receives funding from the National Institute of Neurological Disorders and Stroke of the National Institutes of Health under Award Number K23NS117310 and reports no conflicts of interest. Dr. Somwe has no conflicts of interest to report. Dr. Birbeck has received NIH research grants related to epilepsy, HIV, and cerebral malaria; she is on the Editorial Board for Neurology and Lancet Neurology and Ambassador to Zambia for the Royal Society of Tropical Medicine & Hygiene. Dr. Ramdharry has no conflicts of interest to report. Dr. Kvalsund receives funding from the National Institute of Neurological Disorders & Stroke of the National Institutes of Health under Award Number K23NS112463. Dr. Kvalsund also receives support from an MRC strategic award MR/S005021/1, the American Academy of Neuromuscular and Electrodiagnostic Medicine, and the Allen Foundation.