Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that results in altered behavior, social development, and communication patterns. In recent years, autism prevalence has tripled, with 1 in 44 children now affected. Given that traditional diagnosis is a lengthy, labor-intensive process that requires the work of trained physicians, significant attention has been given to developing systems that automatically detect autism. We work toward this goal by analyzing audio data, as prosody abnormalities are a signal of autism, with affected children displaying speech idiosyncrasies such as echolalia, monotonous intonation, atypical pitch, and irregular linguistic stress patterns. Objective: We aimed to test the ability for machine learning approaches to aid in detection of autism in self-recorded speech audio captured from children with ASD and neurotypical (NT) children in their home environments. Methods: We considered three methods to detect autism in child speech: (1) random forests trained on extracted audio features (including Mel-frequency cepstral coefficients); (2) convolutional neural networks trained on spectrograms; and (3) fine-tuned wav2vec 2.0—a state-of-the-art transformer-based speech recognition model. We trained our classifiers on our novel data set of cellphone-recorded child speech audio curated from the Guess What? mobile game, an app designed to crowdsource videos of children with ASD and NT children in a natural home environment. Results: The random forest classifier achieved 70% accuracy, the fine-tuned wav2vec 2.0 model achieved 77% accuracy, and the convolutional neural network achieved 79% accuracy when classifying children’s audio as either ASD or NT. We used 5-fold cross-validation to evaluate model performance. Conclusions: Our models were able to predict autism status when trained on a varied selection of home audio clips with inconsistent recording qualities, which may be more representative of real-world conditions. The results demonstrate that machine learning methods offer promise in detecting autism automatically from speech without specialized equipment.

Background: A formal autism diagnosis can be an inefficient and lengthy process. Families may wait several months or longer before receiving a diagnosis for their child despite evidence that earlier intervention leads to better treatment outcomes. Digital technologies that detect the presence of behaviors related to autism can scale access to pediatric diagnoses. A strong indicator of the presence of autism is self-stimulatory behaviors such as hand flapping. Objective: This study aims to demonstrate the feasibility of deep learning technologies for the detection of hand flapping from unstructured home videos as a first step toward validation of whether statistical models coupled with digital technologies can be leveraged to aid in the automatic behavioral analysis of autism. To support the widespread sharing of such home videos, we explored privacy-preserving modifications to the input space via conversion of each video to hand landmark coordinates and measured the performance of corresponding time series classifiers. Methods: We used the Self-Stimulatory Behavior Dataset (SSBD) that contains 75 videos of hand flapping, head banging, and spinning exhibited by children. From this data set, we extracted 100 hand flapping videos and 100 control videos, each between 2 to 5 seconds in duration. We evaluated five separate feature representations: four privacy-preserved subsets of hand landmarks detected by MediaPipe and one feature representation obtained from the output of the penultimate layer of a MobileNetV2 model fine-tuned on the SSBD. We fed these feature vectors into a long short-term memory network that predicted the presence of hand flapping in each video clip. Results: The highest-performing model used MobileNetV2 to extract features and achieved a test F1 score of 84 (SD 3.7; precision 89.6, SD 4.3 and recall 80.4, SD 6) using 5-fold cross-validation for 100 random seeds on the SSBD data (500 total distinct folds). Of the models we trained on privacy-preserved data, the model trained with all hand landmarks reached an F1 score of 66.6 (SD 3.35). Another such model trained with a select 6 landmarks reached an F1 score of 68.3 (SD 3.6). A privacy-preserved model trained using a single landmark at the base of the hands and a model trained with the average of the locations of all the hand landmarks reached an F1 score of 64.9 (SD 6.5) and 64.2 (SD 6.8), respectively. Conclusions: We created five lightweight neural networks that can detect hand flapping from unstructured videos. Training a long short-term memory network with convolutional feature vectors outperformed training with feature vectors of hand coordinates and used almost 900,000 fewer model parameters. This study provides the first step toward developing precise deep learning methods for activity detection of autism-related behaviors.

Mobilized telemedicine is becoming a key, and even necessary, facet of both precision health and precision medicine. In this study, we evaluate the capability and potential of a crowd of virtual workers—defined as vetted members of popular crowdsourcing platforms—to aid in the task of diagnosing autism. We evaluate workers when crowdsourcing the task of providing categorical ordinal behavioral ratings to unstructured public YouTube videos of children with autism and neurotypical controls. To evaluate emerging patterns that are consistent across independent crowds, we target workers from distinct geographic loci on two crowdsourcing platforms: an international group of workers on Amazon Mechanical Turk (MTurk) (N = 15) and Microworkers from Bangladesh (N = 56), Kenya (N = 23), and the Philippines (N = 25). We feed worker responses as input to a validated diagnostic machine learning classifier trained on clinician-filled electronic health records. We find that regardless of crowd platform or targeted country, workers vary in the average confidence of the correct diagnosis predicted by the classifier. The best worker responses produce a mean probability of the correct class above 80% and over one standard deviation above 50%, accuracy and variability on par with experts according to prior studies. There is a weak correlation between mean time spent on task and mean performance (r = 0.358, p = 0.005). These results demonstrate that while the crowd can produce accurate diagnoses, there are intrinsic differences in crowdworker ability to rate behavioral features. We propose a novel strategy for recruitment of crowdsourced workers to ensure high quality diagnostic evaluations of autism, and potentially many other pediatric behavioral health conditions. Our approach represents a viable step in the direction of crowd-based approaches for more scalable and affordable precision medicine.

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.

Background: Autism spectrum disorder (ASD) is a widespread neurodevelopmental condition with a range of potential causes and symptoms. Standard diagnostic mechanisms for ASD, which involve lengthy parent questionnaires and clinical observation, often result in long waiting times for results. Recent advances in computer vision and mobile technology hold potential for speeding up the diagnostic process by enabling computational analysis of behavioral and social impairments from home videos. Such techniques can improve objectivity and contribute quantitatively to the diagnostic process. Objective: In this work, we evaluate whether home videos collected from a game-based mobile app can be used to provide diagnostic insights into ASD. To the best of our knowledge, this is the first study attempting to identify potential social indicators of ASD from mobile phone videos without the use of eye-tracking hardware, manual annotations, and structured scenarios or clinical environments. Methods: Here, we used a mobile health app to collect over 11 hours of video footage depicting 95 children engaged in gameplay in a natural home environment. We used automated data set annotations to analyze two social indicators that have previously been shown to differ between children with ASD and their neurotypical (NT) peers: (1) gaze fixation patterns, which represent regions of an individual’s visual focus and (2) visual scanning methods, which refer to the ways in which individuals scan their surrounding environment. We compared the gaze fixation and visual scanning methods used by children during a 90-second gameplay video to identify statistically significant differences between the 2 cohorts; we then trained a long short-term memory (LSTM) neural network to determine if gaze indicators could be predictive of ASD. Results: Our results show that gaze fixation patterns differ between the 2 cohorts; specifically, we could identify 1 statistically significant region of fixation (P<.001). In addition, we also demonstrate that there are unique visual scanning patterns that exist for individuals with ASD when compared to NT children (P<.001). A deep learning model trained on coarse gaze fixation annotations demonstrates mild predictive power in identifying ASD. Conclusions: Ultimately, our study demonstrates that heterogeneous video data sets collected from mobile devices hold potential for quantifying visual patterns and providing insights into ASD. We show the importance of automated labeling techniques in generating large-scale data sets while simultaneously preserving the privacy of participants, and we demonstrate that specific social engagement indicators associated with ASD can be identified and characterized using such data.

Background: Automated emotion classification could aid those who struggle to recognize emotions, including children with developmental behavioral conditions such as autism. However, most computer vision emotion recognition models are trained on adult emotion and therefore underperform when applied to child faces. Objective: We designed a strategy to gamify the collection and labeling of child emotion–enriched images to boost the performance of automatic child emotion recognition models to a level closer to what will be needed for digital health care approaches. Methods: We leveraged our prototype therapeutic smartphone game, GuessWhat, which was designed in large part for children with developmental and behavioral conditions, to gamify the secure collection of video data of children expressing a variety of emotions prompted by the game. Independently, we created a secure web interface to gamify the human labeling effort, called HollywoodSquares, tailored for use by any qualified labeler. We gathered and labeled 2155 videos, 39,968 emotion frames, and 106,001 labels on all images. With this drastically expanded pediatric emotion–centric database (>30 times larger than existing public pediatric emotion data sets), we trained a convolutional neural network (CNN) computer vision classifier of happy, sad, surprised, fearful, angry, disgust, and neutral expressions evoked by children. Results: The classifier achieved a 66.9% balanced accuracy and 67.4% F1-score on the entirety of the Child Affective Facial Expression (CAFE) as well as a 79.1% balanced accuracy and 78% F1-score on CAFE Subset A, a subset containing at least 60% human agreement on emotions labels. This performance is at least 10% higher than all previously developed classifiers evaluated against CAFE, the best of which reached a 56% balanced accuracy even when combining “anger” and “disgust” into a single class. Conclusions: This work validates that mobile games designed for pediatric therapies can generate high volumes of domain-relevant data sets to train state-of-the-art classifiers to perform tasks helpful to precision health efforts.