Utility of the 3Di short version in the identification and diagnosis of autism in children at the Kenyan coast.

Introduction: The precise epidemiological burden of autism is unknown because of the limited capacity to identify and diagnose the disorder in resource-constrained settings, related in part to a lack of appropriate standardised assessment tools and health care experts. We assessed the reliability, validity, and diagnostic accuracy of the Developmental Diagnostic Dimensional Interview (3Di) in a rural setting on the Kenyan coast. Methods: Using a large community survey of neurodevelopmental disorders (NDDs), we administered the 3Di to 2,110 children aged between 6 years and 9 years who screened positive or negative for any NDD and selected 242 who had specific symptoms suggestive of autism based on parental report and the screening tools for review by a child and adolescent psychiatrist. On the basis of recorded video, a multi-disciplinary team applied the Autism Diagnostic Observation Schedule to establish an autism diagnosis. Internal consistency was used to examine the reliability of the Swahili version of the 3Di, tetrachoric correlations to determine criterion validity, structural equation modelling to evaluate factorial structure and receiver operating characteristic analysis to calculate diagnostic accuracy against Diagnostic Statistical Manual of Mental Disorders (DSM) diagnosis. Results: The reliability coefficients for 3Di were excellent for the entire scale {McDonald's omega (ω) = 0.83 [95% confidence interval (CI) 0.79-0.91]}. A higher-order three-factor DSM-IV-TR model showed an adequate fit with the model, improving greatly after retaining high-loading items and correlated items. A higher-order two-factor DSM-5 model also showed an adequate fit. There were weak to satisfactory criterion validity scores [tetrachoric rho = 0.38 (p = 0.049) and 0.59 (p = 0.014)] and good diagnostic accuracy metrics [area under the curve = 0.75 (95% CI: 0.54-0.96) and 0.61 (95% CI: 0.49-0.73] for 3Di against the DSM criteria. The 3Di had a moderate sensitivity [66.7% (95% CI: 0.22-0.96)] and a good specificity [82.5% (95% CI: 0.74-0.89)], when compared with the DSM-5. However, we observed poor sensitivity [38.9% (95% CI: 0.17-0.64)] and good specificity [83.5% (95% CI: 0.74-0.91)] against DSM-IV-TR. Conclusion: The Swahili version of the 3Di provides information on autism traits, which may be helpful for descriptive research of endophenotypes, for instance. However, for accuracy in newly diagnosed autism, it should be complemented by other tools, e.g., observational clinical judgment using the DSM criteria or assessments such as the Autism Diagnostic Observation Schedule. The construct validity of the Swahili 3Di for some domains, e.g., communication, should be explored in future studies.

Ethical issues of involving people with intellectual disabilities in genomic research: a scoping review protocol.

Background: Psychiatric genomic research is a growing field of research in Africa that is looking at epigenetics of psychiatric disorders; within which a specific focus is neurodevelopmental disorders including intellectual disability (ID). Conducting this type of research is important to identify etiologies and possible interventions or areas for further research. However, genomic research generally, and psychiatric genomic research, faces many social, ethical, cultural, and legal issues; research involving people with ID is particularly challenging. All research stakeholders - researchers, research review bodies, regulators, patient groups - generally agree that involving people with ID require several considerations, including extra protection. It is also recognized that not involving people with ID in research that is relevant to them means that opportunities to learn on specific issues including lived experiences are missed. In this scoping review, we aim to describe the range of ethical and social-cultural issues concerning involvement of people with intellectual disability in genomic research from existing literature. Methods: This scoping review will be conducted based on the Joanna Briggs Institute guidance for scoping review and reported using the PRISMA-ScR guidelines. Iterative review stages will include systematic search of six databases (Embase, Ovid Global Health, PubMed, Scopus, PsycInfo and Web of Science core collection), screening, charting and synthesis of the data. Forward and backward citation screening will also be done for the articles included in the final review. We will include peer reviewed journal articles, guidance documents and reports. Screening and selection of studies based on the eligibility criteria will be done independently by three reviewers; conflicts will be resolved through discussion with a third reviewer and other experts. Results: The results will be included in the scoping review publication. Conclusions: This scoping review will identify key areas of ethical tensions and possible solutions and inform opportunities for empirical ethics studies.

Phenotype and genetic analysis of data collected within the first year of NeuroDev.

Genetic association studies have made significant contributions to our understanding of the etiology of neurodevelopmental disorders (NDDs). However, these studies rarely focused on the African continent. The NeuroDev Project aims to address this diversity gap through detailed phenotypic and genetic characterization of children with NDDs from Kenya and South Africa. We present results from NeuroDev's first year of data collection, including phenotype data from 206 cases and clinical genetic analyses of 99 parent-child trios. Most cases met criteria for global developmental delay/intellectual disability (GDD/ID, 80.3%). Approximately half of the children with GDD/ID also met criteria for autism. Analysis of exome-sequencing data identified a pathogenic or likely pathogenic variant in 13 (17%) of the 75 cases from South Africa and 9 (38%) of the 24 cases from Kenya. Data from the trio pilot are publicly available, and the NeuroDev Project will continue to develop resources for the global genetics community.

Perspectives of key stakeholders on educational experiences of children with autism spectrum disorders at the Kenyan Coast.

Background: Little is known about the educational experiences of children diagnosed with autism spectrum disorders (ASDs) in the Kenyan Coastal context. Objectives: We examined the diagnostic and placement procedures used in education on the Kenyan coastal region. In addition, we investigated the education-related challenges faced by children with ASD. Methods: We conducted focus group discussions and in-depth interviews with 21 participants, including teachers, clinicians and educational administrators. Data were analysed using an inductive thematic framework on qualitative data analysis software, NVIVO 10. Results: The findings from this study indicate that there were no systematic approaches to diagnosing children as having ASD. Teachers reported experiencing many challenges, including a lack of specialised training, inadequate resources and difficulty in managing children with different functional abilities in one class. Conclusion: There is an urgent need for contextually relevant evidence-based identification, placement and management services to be put in place to meet the educational needs of children with ASD.

Validity and reliability of the Neurodevelopmental Screening Tool (NDST) in screening for neurodevelopmental disorders in children living in rural Kenyan coast.

Background: There are no data on the precise burden of neurodevelopmental disorders (NDD) in Africa, despite high incidence of risk factors. Ten Questions Questionnaire (TQQ) has been used extensively in Africa to screen neurological impairments but not autism spectrum disorders (ASD) and attention-deficit hyperactivity disorders (ADHD). The Neurodevelopmental Screening Tool (NDST) has reliably assessed NDD in Asia; its validity in Africa is unknown. Methods: Using NDST and TQQ, we screened 11,223 children aged 6-9 years in Kilifi, Kenya. We invited all screen-positives and a proportion of screen-negative children for confirmatory diagnosis of NDD using clinical history, neuropsychological assessments and interviews. Results: In total, 2,245 (20%) children screened positive for NDD. Confirmatory testing was completed for 1,564 (69.7%) screen-positive and 598 (6.7%) screen-negative children. NDST's sensitivity was 87.8% (95%CI: 88.3-88.5%) for any NDD, 96.5% (95%CI:96.1-96.8%) ASD and 89.2% (95%CI: 88.7-89.8%) for ADHD. Moderate/severe neurological impairments' sensitivities ranged from 85.7% (95%CI: 85.1-86.3%) for hearing impairments to 100.00% (100.0-100.0%) for motor impairments. NDST had higher sensitivities than TQQ for epilepsy (88.8 vs 86.7), motor impairments (100.0 vs 93.7) and cognitive impairment (88.2 vs 84.3). Sensitivities for visual and hearing impairments were comparable in both tools. NDST specificity was 82.8% (95%CI: 82.1-83.5%) for any NDD, 94.5% (95%CI: 94.0-94.9%) for ASD and 81.7% (95%CI: 81.0-82.4%) for ADHD. The specificities range for neurological impairments was 80.0% (95%CI: 79.3-80.7%) for visual impairments to 93.8% (95%CI: 93.4-94.3%) for epilepsy. Negative predictive values were generally very high (≤100%), but most positive predictive values (PPV) were low (≤17.8%). Domain specific internal consistency ranged from 0.72 (95%CI: 0.70-0.74) for ADHD to 0.89 (95%CI: 0.87-0.90) for epilepsy. Conclusions: NDST possesses high sensitivity and specificity for detecting different domains of NDD in Kilifi. Low PPV suggest that positive diagnoses should be confirmed when samples are drawn from a population with low disease prevalence.

The NeuroDev Study: Phenotypic and Genetic Characterization of Neurodevelopmental Disorders in Kenya and South Africa.

The NeuroDev study will deeply phenotype cognition, behavior, dysmorphias, and neuromedical traits on an expected cohort of 5,600 Africans (1,800 child cases, 1,800 child controls, and 1,900 parents) and will collect whole blood for exome sequencing and biobanking.