Background: The use of information and communication technologies is transforming the lives of millions of people including children with autism spectrum disorder (ASD). However, the process of developing a user-friendly and effective mobile app needs to follow a complex standard protocol and culture-sensitive customization, and involves multiple sectors. This complex work becomes even more challenging when considering children with ASD in low- and middle-income countries as the users. Objective: This study aimed to design and develop a more intuitive mobile app to improve numeracy skills of children with ASD in Rwanda and evaluate the usability of the app. Methods: A participatory design approach was utilized in this study in which 40 children with ASD, 5 teachers, and 10 parents of children with ASD participated in focus group discussions (FGDs) and usability testing. A narrative literature review was performed to explore existing mobile apps and compare previous studies to design the questions for FGD and facilitate a framework for designing the app. The agile methodology was used to develop the mobile app, and the heuristics evaluation method was used to test and evaluate the usability of the initial version of the app to improve its functionalities. The interviews were recorded, transcribed, and analyzed following the guidelines of the qualitative narrative analysis (QNA) method. Results: During the FGDs the respondents shared their need for a mobile app in teaching and learning numeracy for children with ASD and pointed to possibilities of integrating the mobile app into existing curriculum. Ten themes emerged from the FGDs and exercise of developing the mobile app. The themes were related to (1) teaching and learning numeracy for children with ASD, (2) planning and development of a mobile app for a person with ASD, (3) testing a mobile app, (4) strength of the developed app against the existing ones, (5) behavioral maintenance and relapse prevention, (6) possibilities to integrate the mobile app into the existing curriculum, (7) data protection for users, (8) social implications, (9) challenges in Rwanda, and (10) focus on future. Conclusions: The community plays an important role in the planning, development, and evaluation of a mobile app for children with ASD. In this study, inputs from teachers and parents resulted in an optimally designed mobile app that can improve numeracy skills in children diagnosed with ASD to support the implementation of competency-based curriculum in Rwanda.

We conducted a pilot epigenome-wide association study of women from Tutsi ethnicity exposed to the genocide while pregnant and their resulting offspring, and a comparison group of women who were pr... Lay abstract The 1994 Rwandan genocide against ethnic Tutsi has been associated with adverse mental health outcomes in survivors decades later, but the molecular mechanisms that contribute to this ...

Array-CGH is considered as the first-tier investigation used to identify copy number variations. Right now, there is no available data about the genetic etiology of patients with development delay/intellectual disability and congenital malformation in East Africa.

Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) characterized by significant impairments in social, communicative, and behavioral abilities. However, only a limited number of studies address the genetic basis of ASD in the African population. This study aims to document the genes associated with ASD in Africa and the techniques used to identify them. Additionally, genes identified elsewhere but not yet in Africa are also noted.Methods: Online databases such as Wiley Online Library, PubMed, and Africa Journal Online were used. The review was conducted using the keyword related to genetic and genomic ASD study in the African population.Result: In this scoping review, 40 genetic studies on ASD in Africa were reviewed. The Egyptian and South African populations were the most studied, with 25 and 5 studies, respectively. Countries with fewer studies included Tunisia (4), East African countries (3), Libya (1), Nigeria (1), and Morocco (1). Some 61 genes responsible for ASD were identified in the African population: 26 were identified using a polymerase chain reaction (PCR)-based method, 22 were identified using sequencing technologies, and 12 genes and one de novo chromosomal aberration were identified through other techniques. No African study identified any ASD gene with genome-wide association studies (GWAS). Notably, at least 20 ASD risk genes reported in non-African countries were yet to be confirmed in Africa’s population.Conclusion: There are insufficient genetic studies on ASD in the African population, with sample size being a major limitation in most genetic association studies, leading to inconclusive results. Thus, there is a need to conduct more studies with large sample sizes to identify other genes associated with ASD in Africa’s population using high-throughput sequencing technology.

Background: The genetic aetiology of global developmental delay (GDD) and intellectual disability (ID) in Africa is poorly understood. This review synthesises the available information on this topic. Methods: Original articles published in the English language between January 2000 and June 2024 on the African population were included. Literature was retrieved from PubMed, Scopus, and Web of Science, in accordance with the PRISMA guidelines. Results: Of all the 54 African countries, only 13 reported the genetic factors associated with GDD and ID. The genes related to GDD and ID were reported in Egypt (22), Tunisia (17), Morocco (16), South Africa (10), Algeria (4), Sudan (3), Libya (2), Nigeria (2), Rwanda (4), Mali (1), Cameroon (1), DRC (2), and Tanzania (1), although some genes were reported in more than one African country. At least 45 genes associated with GDD and ID have been reported in the African population, whereas 21 genes associated with these disorders are yet to be documented in Africa. Conclusion: This review provides, to the best of our knowledge, the first comprehensive review of the genetic aetiology of GDD and ID in Africa. It presents an imbalance of gene research on GDD and ID across African regions, with North African countries dominating this field of study.