Detecting Developmental Delay and Autism Through Machine Learning Models Using Home Videos of Bangladeshi Children: Development and Validation Study.

BACKGROUND: Autism spectrum disorder (ASD) is currently diagnosed using qualitative methods that measure between 20-100 behaviors, can span multiple appointments with trained clinicians, and take several hours to complete. In our previous work, we demonstrated the efficacy of machine learning classifiers to accelerate the process by collecting home videos of US-based children, identifying a reduced subset of behavioral features that are scored by untrained raters using a machine learning classifier to determine children's "risk scores" for autism. We achieved an accuracy of 92% (95% CI 88%-97%) on US videos using a classifier built on five features. OBJECTIVE: Using videos of Bangladeshi children collected from Dhaka Shishu Children's Hospital, we aim to scale our pipeline to another culture and other developmental delays, including speech and language conditions. METHODS: Although our previously published and validated pipeline and set of classifiers perform reasonably well on Bangladeshi videos (75% accuracy, 95% CI 71%-78%), this work improves on that accuracy through the development and application of a powerful new technique for adaptive aggregation of crowdsourced labels. We enhance both the utility and performance of our model by building two classification layers: The first layer distinguishes between typical and atypical behavior, and the second layer distinguishes between ASD and non-ASD. In each of the layers, we use a unique rater weighting scheme to aggregate classification scores from different raters based on their expertise. We also determine Shapley values for the most important features in the classifier to understand how the classifiers' process aligns with clinical intuition. RESULTS: Using these techniques, we achieved an accuracy (area under the curve [AUC]) of 76% (SD 3%) and sensitivity of 76% (SD 4%) for identifying atypical children from among developmentally delayed children, and an accuracy (AUC) of 85% (SD 5%) and sensitivity of 76% (SD 6%) for identifying children with ASD from those predicted to have other developmental delays. CONCLUSIONS: These results show promise for using a mobile video-based and machine learning-directed approach for early and remote detection of autism in Bangladeshi children. This strategy could provide important resources for developmental health in developing countries with few clinical resources for diagnosis, helping children get access to care at an early age. Future research aimed at extending the application of this approach to identify a range of other conditions and determine the population-level burden of developmental disabilities and impairments will be of high value.

Validity of Online Screening for Autism: Crowdsourcing Study Comparing Paid and Unpaid Diagnostic Tasks.

BACKGROUND: Obtaining a diagnosis of neuropsychiatric disorders such as autism requires long waiting times that can exceed a year and can be prohibitively expensive. Crowdsourcing approaches may provide a scalable alternative that can accelerate general access to care and permit underserved populations to obtain an accurate diagnosis. OBJECTIVE: We aimed to perform a series of studies to explore whether paid crowd workers on Amazon Mechanical Turk (AMT) and citizen crowd workers on a public website shared on social media can provide accurate online detection of autism, conducted via crowdsourced ratings of short home video clips. METHODS: Three online studies were performed: (1) a paid crowdsourcing task on AMT (N=54) where crowd workers were asked to classify 10 short video clips of children as "Autism" or "Not autism," (2) a more complex paid crowdsourcing task (N=27) with only those raters who correctly rated ≥8 of the 10 videos during the first study, and (3) a public unpaid study (N=115) identical to the first study. RESULTS: For Study 1, the mean score of the participants who completed all questions was 7.50/10 (SD 1.46). When only analyzing the workers who scored ≥8/10 (n=27/54), there was a weak negative correlation between the time spent rating the videos and the sensitivity (ρ=-0.44, P=.02). For Study 2, the mean score of the participants rating new videos was 6.76/10 (SD 0.59). The average deviation between the crowdsourced answers and gold standard ratings provided by two expert clinical research coordinators was 0.56, with an SD of 0.51 (maximum possible SD is 3). All paid crowd workers who scored 8/10 in Study 1 either expressed enjoyment in performing the task in Study 2 or provided no negative comments. For Study 3, the mean score of the participants who completed all questions was 6.67/10 (SD 1.61). There were weak correlations between age and score (r=0.22, P=.014), age and sensitivity (r=-0.19, P=.04), number of family members with autism and sensitivity (r=-0.195, P=.04), and number of family members with autism and precision (r=-0.203, P=.03). A two-tailed t test between the scores of the paid workers in Study 1 and the unpaid workers in Study 3 showed a significant difference (P<.001). CONCLUSIONS: Many paid crowd workers on AMT enjoyed answering screening questions from videos, suggesting higher intrinsic motivation to make quality assessments. Paid crowdsourcing provides promising screening assessments of pediatric autism with an average deviation <20% from professional gold standard raters, which is potentially a clinically informative estimate for parents. Parents of children with autism likely overfit their intuition to their own affected child. This work provides preliminary demographic data on raters who may have higher ability to recognize and measure features of autism across its wide range of phenotypic manifestations.

Addendum to the Acknowledgements: Validity of Online Screening for Autism: Crowdsourcing Study Comparing Paid and Unpaid Diagnostic Tasks.

[This corrects the article DOI: 10.2196/13668.].

Mobile detection of autism through machine learning on home video: A development and prospective validation study.

BACKGROUND: The standard approaches to diagnosing autism spectrum disorder (ASD) evaluate between 20 and 100 behaviors and take several hours to complete. This has in part contributed to long wait times for a diagnosis and subsequent delays in access to therapy. We hypothesize that the use of machine learning analysis on home video can speed the diagnosis without compromising accuracy. We have analyzed item-level records from 2 standard diagnostic instruments to construct machine learning classifiers optimized for sparsity, interpretability, and accuracy. In the present study, we prospectively test whether the features from these optimized models can be extracted by blinded nonexpert raters from 3-minute home videos of children with and without ASD to arrive at a rapid and accurate machine learning autism classification. METHODS AND FINDINGS: We created a mobile web portal for video raters to assess 30 behavioral features (e.g., eye contact, social smile) that are used by 8 independent machine learning models for identifying ASD, each with >94% accuracy in cross-validation testing and subsequent independent validation from previous work. We then collected 116 short home videos of children with autism (mean age = 4 years 10 months, SD = 2 years 3 months) and 46 videos of typically developing children (mean age = 2 years 11 months, SD = 1 year 2 months). Three raters blind to the diagnosis independently measured each of the 30 features from the 8 models, with a median time to completion of 4 minutes. Although several models (consisting of alternating decision trees, support vector machine [SVM], logistic regression (LR), radial kernel, and linear SVM) performed well, a sparse 5-feature LR classifier (LR5) yielded the highest accuracy (area under the curve [AUC]: 92% [95% CI 88%-97%]) across all ages tested. We used a prospectively collected independent validation set of 66 videos (33 ASD and 33 non-ASD) and 3 independent rater measurements to validate the outcome, achieving lower but comparable accuracy (AUC: 89% [95% CI 81%-95%]). Finally, we applied LR to the 162-video-feature matrix to construct an 8-feature model, which achieved 0.93 AUC (95% CI 0.90-0.97) on the held-out test set and 0.86 on the validation set of 66 videos. Validation on children with an existing diagnosis limited the ability to generalize the performance to undiagnosed populations. CONCLUSIONS: These results support the hypothesis that feature tagging of home videos for machine learning classification of autism can yield accurate outcomes in short time frames, using mobile devices. Further work will be needed to confirm that this approach can accelerate autism diagnosis at scale.

Crowdsourced privacy-preserved feature tagging of short home videos for machine learning ASD detection.

Standard medical diagnosis of mental health conditions requires licensed experts who are increasingly outnumbered by those at risk, limiting reach. We test the hypothesis that a trustworthy crowd of non-experts can efficiently annotate behavioral features needed for accurate machine learning detection of the common childhood developmental disorder Autism Spectrum Disorder (ASD) for children under 8 years old. We implement a novel process for identifying and certifying a trustworthy distributed workforce for video feature extraction, selecting a workforce of 102 workers from a pool of 1,107. Two previously validated ASD logistic regression classifiers, evaluated against parent-reported diagnoses, were used to assess the accuracy of the trusted crowd's ratings of unstructured home videos. A representative balanced sample (N = 50 videos) of videos were evaluated with and without face box and pitch shift privacy alterations, with AUROC and AUPRC scores > 0.98. With both privacy-preserving modifications, sensitivity is preserved (96.0%) while maintaining specificity (80.0%) and accuracy (88.0%) at levels comparable to prior classification methods without alterations. We find that machine learning classification from features extracted by a certified nonexpert crowd achieves high performance for ASD detection from natural home videos of the child at risk and maintains high sensitivity when privacy-preserving mechanisms are applied. These results suggest that privacy-safeguarded crowdsourced analysis of short home videos can help enable rapid and mobile machine-learning detection of developmental delays in children.

The Performance of Emotion Classifiers for Children With Parent-Reported Autism: Quantitative Feasibility Study.

BACKGROUND: Autism spectrum disorder (ASD) is a developmental disorder characterized by deficits in social communication and interaction, and restricted and repetitive behaviors and interests. The incidence of ASD has increased in recent years; it is now estimated that approximately 1 in 40 children in the United States are affected. Due in part to increasing prevalence, access to treatment has become constrained. Hope lies in mobile solutions that provide therapy through artificial intelligence (AI) approaches, including facial and emotion detection AI models developed by mainstream cloud providers, available directly to consumers. However, these solutions may not be sufficiently trained for use in pediatric populations. OBJECTIVE: Emotion classifiers available off-the-shelf to the general public through Microsoft, Amazon, Google, and Sighthound are well-suited to the pediatric population, and could be used for developing mobile therapies targeting aspects of social communication and interaction, perhaps accelerating innovation in this space. This study aimed to test these classifiers directly with image data from children with parent-reported ASD recruited through crowdsourcing. METHODS: We used a mobile game called Guess What? that challenges a child to act out a series of prompts displayed on the screen of the smartphone held on the forehead of his or her care provider. The game is intended to be a fun and engaging way for the child and parent to interact socially, for example, the parent attempting to guess what emotion the child is acting out (eg, surprised, scared, or disgusted). During a 90-second game session, as many as 50 prompts are shown while the child acts, and the video records the actions and expressions of the child. Due in part to the fun nature of the game, it is a viable way to remotely engage pediatric populations, including the autism population through crowdsourcing. We recruited 21 children with ASD to play the game and gathered 2602 emotive frames following their game sessions. These data were used to evaluate the accuracy and performance of four state-of-the-art facial emotion classifiers to develop an understanding of the feasibility of these platforms for pediatric research. RESULTS: All classifiers performed poorly for every evaluated emotion except happy. None of the classifiers correctly labeled over 60.18% (1566/2602) of the evaluated frames. Moreover, none of the classifiers correctly identified more than 11% (6/51) of the angry frames and 14% (10/69) of the disgust frames. CONCLUSIONS: The findings suggest that commercial emotion classifiers may be insufficiently trained for use in digital approaches to autism treatment and treatment tracking. Secure, privacy-preserving methods to increase labeled training data are needed to boost the models' performance before they can be used in AI-enabled approaches to social therapy of the kind that is common in autism treatments.

Data-Driven Diagnostics and the Potential of Mobile Artificial Intelligence for Digital Therapeutic Phenotyping in Computational Psychiatry.

Data science and digital technologies have the potential to transform diagnostic classification. Digital technologies enable the collection of big data, and advances in machine learning and artificial intelligence enable scalable, rapid, and automated classification of medical conditions. In this review, we summarize and categorize various data-driven methods for diagnostic classification. In particular, we focus on autism as an example of a challenging disorder due to its highly heterogeneous nature. We begin by describing the frontier of data science methods for the neuropsychiatry of autism. We discuss early signs of autism as defined by existing pen-and-paper-based diagnostic instruments and describe data-driven feature selection techniques for determining the behaviors that are most salient for distinguishing children with autism from neurologically typical children. We then describe data-driven detection techniques, particularly computer vision and eye tracking, that provide a means of quantifying behavioral differences between cases and controls. We also describe methods of preserving the privacy of collected videos and prior efforts of incorporating humans in the diagnostic loop. Finally, we summarize existing digital therapeutic interventions that allow for data capture and longitudinal outcome tracking as the diagnosis moves along a positive trajectory. Digital phenotyping of autism is paving the way for quantitative psychiatry more broadly and will set the stage for more scalable, accessible, and precise diagnostic techniques in the field.

Feature Selection and Dimension Reduction of Social Autism Data.

Autism Spectrum Disorder (ASD) is a complex neuropsychiatric condition with a highly heterogeneous phenotype. Following the work of Duda et al., which uses a reduced feature set from the Social Responsiveness Scale, Second Edition (SRS) to distinguish ASD from ADHD, we performed item-level question selection on answers to the SRS to determine whether ASD can be distinguished from non-ASD using a similarly small subset of questions. To explore feature redundancies between the SRS questions, we performed filter, wrapper, and embedded feature selection analyses. To explore the linearity of the SRS-related ASD phenotype, we then compressed the 65-question SRS into low-dimension representations using PCA, t-SNE, and a denoising autoencoder. We measured the performance of a multilayer perceptron (MLP) classifier with the top-ranking questions as input. Classification using only the top-rated question resulted in an AUC of over 92% for SRS-derived diagnoses and an AUC of over 83% for dataset-specific diagnoses. High redundancy of features have implications towards replacing the social behaviors that are targeted in behavioral diagnostics and interventions, where digital quantification of certain features may be obfuscated due to privacy concerns. We similarly evaluated the performance of an MLP classifier trained on the low-dimension representations of the SRS, finding that the denoising autoencoder achieved slightly higher performance than the PCA and t-SNE representations.

Labeling images with facial emotion and the potential for pediatric healthcare.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by repetitive behaviors, narrow interests, and deficits in social interaction and communication ability. An increasing emphasis is being placed on the development of innovative digital and mobile systems for their potential in therapeutic applications outside of clinical environments. Due to recent advances in the field of computer vision, various emotion classifiers have been developed, which have potential to play a significant role in mobile screening and therapy for developmental delays that impair emotion recognition and expression. However, these classifiers are trained on datasets of predominantly neurotypical adults and can sometimes fail to generalize to children with autism. The need to improve existing classifiers and develop new systems that overcome these limitations necessitates novel methods to crowdsource labeled emotion data from children. In this paper, we present a mobile charades-style game, Guess What?, from which we derive egocentric video with a high density of varied emotion from a 90-second game session. We then present a framework for semi-automatic labeled frame extraction from these videos using meta information from the game session coupled with classification confidence scores. Results show that 94%, 81%, 92%, and 56% of frames were automatically labeled correctly for categories disgust, neutral, surprise, and scared respectively, though performance for angry and happy did not improve significantly from the baseline.

Effect of Wearable Digital Intervention for Improving Socialization in Children With Autism Spectrum Disorder: A Randomized Clinical Trial.

Importance: Autism behavioral therapy is effective but expensive and difficult to access. While mobile technology-based therapy can alleviate wait-lists and scale for increasing demand, few clinical trials exist to support its use for autism spectrum disorder (ASD) care. Objective: To evaluate the efficacy of Superpower Glass, an artificial intelligence-driven wearable behavioral intervention for improving social outcomes of children with ASD. Design, Setting, and Participants: A randomized clinical trial in which participants received the Superpower Glass intervention plus standard of care applied behavioral analysis therapy and control participants received only applied behavioral analysis therapy. Assessments were completed at the Stanford University Medical School, and enrolled participants used the Superpower Glass intervention in their homes. Children aged 6 to 12 years with a formal ASD diagnosis who were currently receiving applied behavioral analysis therapy were included. Families were recruited between June 2016 and December 2017. The first participant was enrolled on November 1, 2016, and the last appointment was completed on April 11, 2018. Data analysis was conducted between April and October 2018. Interventions: The Superpower Glass intervention, deployed via Google Glass (worn by the child) and a smartphone app, promotes facial engagement and emotion recognition by detecting facial expressions and providing reinforcing social cues. Families were asked to conduct 20-minute sessions at home 4 times per week for 6 weeks. Main Outcomes and Measures: Four socialization measures were assessed using an intention-to-treat analysis with a Bonferroni test correction. Results: Overall, 71 children (63 boys [89%]; mean [SD] age, 8.38 [2.46] years) diagnosed with ASD were enrolled (40 [56.3%] were randomized to treatment, and 31 (43.7%) were randomized to control). Children receiving the intervention showed significant improvements on the Vineland Adaptive Behaviors Scale socialization subscale compared with treatment as usual controls (mean [SD] treatment impact, 4.58 [1.62]; P = .005). Positive mean treatment effects were also found for the other 3 primary measures but not to a significance threshold of P = .0125. Conclusions and Relevance: The observed 4.58-point average gain on the Vineland Adaptive Behaviors Scale socialization subscale is comparable with gains observed with standard of care therapy. To our knowledge, this is the first randomized clinical trial to demonstrate efficacy of a wearable digital intervention to improve social behavior of children with ASD. The intervention reinforces facial engagement and emotion recognition, suggesting either or both could be a mechanism of action driving the observed improvement. This study underscores the potential of digital home therapy to augment the standard of care. Trial Registration: ClinicalTrials.gov identifier: NCT03569176.