Autism spectrum disorder (ASD) is recognized as a global public health concern, yet almost everything we know about ASD comes from high-income countries. Here we performed a scoping review of all research on ASD ever published in sub-Saharan Africa (SSA) in order to identify ASD knowledge gaps in this part of the world. Fifty-three publications met inclusion criteria. Themes included the phenotype, genetics and risk factors for ASD in SSA, screening and diagnosis, professional knowledge, interventions for ASD, parental perceptions, and social-cognitive neuroscience. No epidemiological, early intervention, school-based or adult studies were identified. For each identified theme, we aimed to summarize results and make recommendations to fill the knowledge gaps. The quality of study methodologies was generally not high. Few studies used standardized diagnostic instruments, and intervention studies were typically small-scale. Overall, findings suggest a substantial need for large-scale clinical, training, and research programmes to improve the lives of people who live with ASD in SSA. However, SSA also has the potential to make unique and globally-significant contributions to the etiology and treatments of ASD through implementation, interventional, and comparative genomic science.

Scientific Abstract Little research has been conducted on behavioral characteristics of children with ASD from diverse cultures within the US or from countries outside of the US or Europe, with little reliable information yet reported from developing countries. We describe the process used to engage diverse communities in ASD research in two community-based research projects—an epidemiological investigation of 7–12 year olds in South Korea and the Early Autism Project, an ASD detection program for 18–36 month old Zulu-speaking children in South Africa. Despite the differences in wealth between these communities, ASD is under-diagnosed in both settings, generally not reported in clinical or educational records. Moreover, in both countries there is low availability of services. In both cases, local knowledge helped researchers to address both ethnographic as well as practical problems. Researchers identified the ways in which these communities generate and negotiate the cultural meanings of developmental disorders. Researchers incorporated that knowledge as they engaged communities in a research protocol, adapted and translated screening and diagnostic tools, and developed methods for screening, evaluating, and diagnosing children with ASD.

We set out to examine key stakeholder perspectives on early detection and intervention for autism spectrum disorder (ASD) in South Africa. Early detection and intervention improves child and family outcomes and lessens long-term costs. We focused on stakeholders in the Western Cape province, one of the better-resourced in terms of healthcare. Eight senior management level stakeholders, two each from government’s Health, Education, and Social Development, and the non-profit sector were identified using purposive sampling. In-depth interviews focused on key implementation-related themes. The National Integrated Early Childhood Development Policy was the most relevant to early detection and intervention. This policy, however, is not ASD specific. This lack of specificity is in keeping with an emerging theme: ASD was only seen within the context of other developmental disabilities, particularly by Health and Social Development. Specific ASD early detection and intervention may not currently align with Health and Social Development departmental goals. These departments are primarily responsible for identifying and providing services and financial support to young children with ASD. Increased ASD knowledge and local South African statistics on prevalence, burden and associated costs may alter this approach. At this time, ASD early intervention may be more closely aligned with Education department goals.

Culturally appropriate tools are needed for detecting symptoms of autism spectrum disorder in young South African children. The objectives of this study were to (1) adapt and translate into isiZulu existing measures for detecting early signs of autism spectrum disorder, (2) use the measures to characterize and compare behavioural profiles of young isiZulu-speaking children with and without autism spectrum disorder and (3) compare symptom profiles across sampling procedures. Measures were translated and adapted into isiZulu and used to evaluate 26 isiZulu-speaking children, 15 children with no reported developmental concerns and 11 referred for suspected autism spectrum disorder. A video-recorded observation of children and caregivers in their home environment was also made. Based on best-estimate diagnoses, 10 children were classified as autism spectrum disorder and 16 as non-autism spectrum disorder. The children with autism spectrum disorder presented with significantly more autism spectrum disorder red flags than the non-autism spectrum disorder group according to parent report and systematic ratings of red flags. Significant correlations between parent report and observational measures of red flags were observed. More red flags were observed during structured evaluations than home observations in the autism spectrum disorder group. Findings provide a foundation for tool translation and adaptation in South Africa and identifying social communication markers to detect autism spectrum disorder in young isiZulu-speaking children.

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While further research in the SA population is needed, these findings are a first step towards validating a culturally appropriate measure for early detection of social communication delays in a sample of SA toddlers.

Background Tuberous sclerosis complex (TSC)–associated neuropsychiatric disorders (TAND) is an umbrella term for the behavioural, psychiatric, intellectual, academic, neuropsychological and psychosocial manifestations of TSC. Although TAND affects 90% of individuals with TSC during their lifetime, these manifestations are relatively under-assessed, under-treated and under-researched. We performed a comprehensive scoping review of all TAND research to date (a) to describe the existing TAND research landscape and (b) to identify knowledge gaps to guide future TAND research. Methods The study was conducted in accordance with stages outlined within the Arksey and O’Malley scoping review framework. Ten research questions relating to study characteristics, research design and research content of TAND levels and clusters were examined. Results Of the 2841 returned searches, 230 articles published between 1987 and 2020 were included (animal studies = 30, case studies = 47, cohort studies = 153), with more than half published since the term TAND was coined in 2012 (118/230; 51%). Cohort studies largely involved children and/or adolescents (63%) as opposed to older adults (16%). Studies were represented across 341 individual research sites from 45 countries, the majority from the USA (89/341; 26%) and the UK (50/341; 15%). Only 48 research sites (14%) were within low–middle income countries (LMICs). Animal studies and case studies were of relatively high/high quality, but cohort studies showed significant variability. Of the 153 cohort studies, only 16 (10%) included interventions. None of these were non-pharmacological, and only 13 employed remote methodologies (e.g. telephone interviews, online surveys). Of all TAND clusters, the autism spectrum disorder–like cluster was the most widely researched (138/230; 60%) and the scholastic cluster the least (53/200; 27%). Conclusions Despite the recent increase in TAND research, studies that represent participants across the lifespan, LMIC research sites and non-pharmacological interventions were identified as future priorities. The quality of cohort studies requires improvement, to which the use of standardised direct behavioural assessments may contribute. In human studies, the academic level in particular warrants further investigation. Remote technologies could help to address many of the TAND knowledge gaps identified.

There is a significant research‐to‐practice gap in early detection of young children with autism spectrum disorder (ASD) worldwide but particularly in low‐ and middle‐income countries (LMICs) where expertise is limited and high‐quality training is difficult to access. Autism Navigator® for Primary Care is a web‐based course designed to increase awareness of red flags of ASD in the second year of life and thus promote earlier detection and referral for intervention. It contains extensive video illustrations that offer rapid access to multiple exemplars of ASD red flags. This study examined aspects of feasibility of the Autism Navigator® for Primary Care in one LMIC, South Africa. A mixed‐methods quasi‐experimental design was used to examine relevant professionals' implementation of the course and measure changes in their knowledge of red flags after training. Perceptions of the acceptability, demand, and practicality of the course were explored in focus groups. Sixty‐two providers completed the course online with a 94% completion rate. Built‐in learner assessment pass rates ranged from 88% to 100%. Second‐language English speakers took longer to complete the learner assessments, and professionals with less access to the Internet spent less time in the course. Participants' perceptions of the acceptability, demand, and practicality of the course were mostly positive with some suggestions made for local conditions. Results supported the feasibility of the course in this LMIC with some supports required pertaining to language and Internet access. We propose that this training has the potential to lower the age of detection of ASD in South Africa and other LMICs. Autism Research 2018, 11: 1511–1521. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary Professionals in low‐ and middle‐income countries urgently need training to recognize red flags of autism in very young children. The feasibility of utilizing the Autism Navigator® for Primary Care course for this training was explored with 62 South African professionals. After training, professionals' knowledge of early red flags improved, and most reported the course important and needed in South Africa. They found the web‐based design mostly acceptable, practical, and culturally applicable. The course could help lower the age of autism detection.