NeuroDev: etiology and experience of neurodevelopmental disorders in Kenya and South Africa

Abstract

The NeuroDev study, conducted in Kenya and South Africa, is a large-scale clinical, genetic, and epidemiologic characterization of neurodevelopmental disorders (NDDs) on the African continent. NeuroDev assessments capture birth, demographic, and developmental history; cognitive and behavioral outcomes; and physical health variables. DNA samples are collected for exome sequencing and clinical genetic analysis. This paper presents novel data from 521 children with NDDs, 739 of those childrens parents, and 255 unrelated, typically-developing children. The analyses offer unique genetic and phenotypic characterizations of NDDs in two African countries and underscore the importance of including underrepresented populations in NDD research. Ultimately, 107 children with NDDs from the NeuroDev cohort (22.1%) had likely pathogenic or pathogenic variants in established NDD genes. High rates of genetic diagnosis were associated with high rates of environmental risk factors for NDDs. All data, materials, and measures generated from this study are publicly available through the US National Institute of Mental Health.