Socio-genomics of intellectual disability in African populations: top research-producing countries

Intellectual disability (ID) is a condition that is disproportionately represented in Low-and-Middle-Income countries (LMICs), including Africa, where socioeconomic and healthcare disparities contribute to a higher burden. Although prevalence estimates suggest a greater impact in African populations than in high-income regions, data remain limited and heterogeneous. ID has a highly diverse etiology driven by a complex interplay of genetic and environmental factors that contributes to significant regional variability in its presentation.

This review aims to examine the landscape of ID research across Africa, map geographic and infrastructural disparities in publication output, diagnostic capacity, and genomic investigation.

A strong geographical imbalance is noticed, with North African countries accounting for a substantial proportion of publications, while many regions remain underrepresented. Although South Africa leads overall research production, most African countries contribute minimally, and genetic studies are available for only 19 countries, often restricted to case reports. Genetic studies, frequently influenced by high rates of consanguinity in certain populations, have enabled identification of recessive variants. However, reliance on low-throughput diagnostic approaches such as karyotyping, Sanger sequencing, and gene panels limits the ability to capture the full allelic diversity and mutational spectrum of African populations.

Overall, ID research in Africa remains fragmented and uneven, shaped by socio-genomic and structural constraints. Foreign collaboration biases may inflate output without strengthening local capacity. There is a need for African-led, equitable, and decentralized initiatives using advanced genomic technologies to better define the mutational landscape and improve diagnosis, management, and care.