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ABSTRACT Early identification and intervention often leads to improved life outcomes for individuals with Autism Spectrum Disorder (ASD). However, traditional diagnostic methods are time-consuming, frequently delaying treatment. This study examines the application of machine learning (ML) techniques to 10-question Quantitative Checklist for Autism in Toddlers (QCHAT-10) datasets, aiming to evaluate the predictive value of questionnaire features and overall accuracy metrics across different cultures. We trained models using three distinct datasets from three different countries: Poland, New Zealand, and Saudi Arabia. The New Zealand and Saudi Arabian-trained models were both tested on the Polish dataset, which consisted of diagnostic class labels derived from clinical diagnostic processes. The Decision Tree, Random Forest, and XGBoost models were evaluated, with XGBoost consistently performing best. Feature importance rankings revealed little consistency across models; however, Recursive Feature Elimination (RFE) to select the models with the four most predictive features retained three common features. Both models performed similarly on the Polish test dataset with clinical diagnostic labels, with the New Zealand models with all 13 features achieving an AUROC of 0.94 ± 0.06, and the Saudi Model having an AUROC of 93% ± 6. This compared favorably to the cross-validation analysis of a Polish-trained model, which had an AUROC of 94% ± 5, suggesting that answers to the QCHAT-10 can be predictive of an official autism diagnosis, even across cultures. The New Zealand model with four features had an AUROC of 85% ± 13, and the Saudi model had a similar result of 87% ± 11. These results were somewhat lower than the Polish cross-validation AUROC of 91% ± 5. Adjusting probability thresholds improved sensitivity in some models, which is crucial for screening tools. However, this threshold adjustment often resulted in low levels of specificity during the final testing phase. Our findings suggest that these screening tools may generalize well across cultures; however, more research is needed regarding differences in feature importance for different populations. 

BackgroundA considerable number of minors in the United States are diagnosed with developmental or psychiatric conditions, potentially influenced by underdiagnosis factors such as cost, distance, and clinician availability. Despite the potential of digital phenotyping tools with machine learning (ML) approaches to expedite diagnoses and enhance diagnostic services for pediatric psychiatric conditions, existing methods face limitations because they use a limited set of social features for prediction tasks and focus on a single binary prediction, resulting in uncertain accuracies. ObjectiveThis study aims to propose the development of a gamified web system for data collection, followed by a fusion of novel crowdsourcing algorithms with ML behavioral feature extraction approaches to simultaneously predict diagnoses of autism spectrum disorder and attention-deficit/hyperactivity disorder in a precise and specific manner. MethodsThe proposed pipeline will consist of (1) gamified web applications to curate videos of social interactions adaptively based on the needs of the diagnostic system, (2) behavioral feature extraction techniques consisting of automated ML methods and novel crowdsourcing algorithms, and (3) the development of ML models that classify several conditions simultaneously and that adaptively request additional information based on uncertainties about the data. ResultsA preliminary version of the web interface has been implemented, and a prior feature selection method has highlighted a core set of behavioral features that can be targeted through the proposed gamified approach. ConclusionsThe prospect for high reward stems from the possibility of creating the first artificial intelligence–powered tool that can identify complex social behaviors well enough to distinguish conditions with nuanced differentiators such as autism spectrum disorder and attention-deficit/hyperactivity disorder. International Registered Report Identifier (IRRID)PRR1-10.2196/52205 

Abstract Background Many children with autism cannot receive timely in-person diagnosis and therapy, especially in situations where access is limited by geography, socioeconomics, or global health concerns such as the current COVD-19 pandemic. Mobile solutions that work outside of traditional clinical environments can safeguard against gaps in access to quality care. Objective The aim of the study is to examine the engagement level and therapeutic feasibility of a mobile game platform for children with autism. Methods We designed a mobile application, GuessWhat, which, in its current form, delivers game-based therapy to children aged 3 to 12 in home settings through a smartphone. The phone, held by a caregiver on their forehead, displays one of a range of appropriate and therapeutically relevant prompts (e.g., a surprised face) that the child must recognize and mimic sufficiently to allow the caregiver to guess what is being imitated and proceed to the next prompt. Each game runs for 90 seconds to create a robust social exchange between the child and the caregiver. Results We examined the therapeutic feasibility of GuessWhat in 72 children (75% male, average age 8 years 2 months) with autism who were asked to play the game for three 90-second sessions per day, 3 days per week, for a total of 4 weeks. The group showed significant improvements in Social Responsiveness Score-2 (SRS-2) total (3.97, p <0.001) and Vineland Adaptive Behavior Scales-II (VABS-II) socialization standard (5.27, p = 0.002) scores. Conclusion The results support that the GuessWhat mobile game is a viable approach for efficacious treatment of autism and further support the possibility that the game can be used in natural settings to increase access to treatment when barriers to care exist.