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

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Authors: Patricia Kipkemoi, Emily O Heir, Mutaz Amin, Sarah L. Stenton, William Baddoo, Harrison Brand, Zandrè Bruwer, Sam Bryant, Eunice Chepkemoi, Björn U. Christ, Emma Eastman, Claire Fourie
+32 more Jack M Fu, Alice Galvin, Stacey J. Hall, Heesu Ally Kim, Fatima Khan, Collins Kipkoech, Martha Z Kombe, Racheal Mapenzi, Brigitte Melly, Celia van der Merwe, Beatrice Mkubwa, Serini Murugasen, Katini Mwangasha, Paul Murimi Mwangi, Samuel Mwasambu, Alfred Ngombo, Javan Nyale, Ikeoluwa Osei-Owusu, Jessica Ellen Ringshaw, Kathryn A Russell, Kaitlin E. Samocha, Alba Sanchis-Juan, Moriel Singer-Berk, Grace E. VanNoy, Michal R. Zieff, Michael E. Talkowski, Anne O Donnell-Luria, Christina Austin-Tse, Charles Newton, Amina A Abubakar, Kirsten Ann Donald, Elise Robinson
Cited by: 1
References: 40

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 children's 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.

Fields of Study & Subjects

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Genetic Neurodegenerative Diseases

Publication details

Journal / source
medRxiv
Publisher
openRxiv
Publication date
6 May 2026
Language
EN
Document type
Preprint