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BACKGROUND Implementing automated facial expression recognition on mobile devices could provide an accessible diagnostic and therapeutic tool for those who struggle to recognize facial expressions, including children with developmental behavioral conditions such as autism. Despite recent advances in facial expression classifiers for children, existing models are too computationally expensive for smartphone use. OBJECTIVE We explored several state-of-the-art facial expression classifiers designed for mobile devices, used posttraining optimization techniques for both classification performance and efficiency on a Motorola Moto G6 phone, evaluated the importance of training our classifiers on children versus adults, and evaluated the models’ performance against different ethnic groups. METHODS We collected images from 12 public data sets and used video frames crowdsourced from the GuessWhat app to train our classifiers. All images were annotated for 7 expressions: neutral, fear, happiness, sadness, surprise, anger, and disgust. We tested 3 copies for each of 5 different convolutional neural network architectures: MobileNetV3-Small 1.0x, MobileNetV2 1.0x, EfficientNetB0, MobileNetV3-Large 1.0x, and NASNetMobile. We trained the first copy on images of children, second copy on images of adults, and third copy on all data sets. We evaluated each model against the entire Child Affective Facial Expression (CAFE) set and by ethnicity. We performed weight pruning, weight clustering, and quantize-aware training when possible and profiled each model’s performance on the Moto G6. RESULTS Our best model, a MobileNetV3-Large network pretrained on ImageNet, achieved 65.78% accuracy and 65.31% F1-score on the CAFE and a 90-millisecond inference latency on a Moto G6 phone when trained on all data. This accuracy is only 1.12% lower than the current state of the art for CAFE, a model with 13.91x more parameters that was unable to run on the Moto G6 due to its size, even when fully optimized. When trained solely on children, this model achieved 60.57% accuracy and 60.29% F1-score. When trained only on adults, the model received 53.36% accuracy and 53.10% F1-score. Although the MobileNetV3-Large trained on all data sets achieved nearly a 60% F1-score across all ethnicities, the data sets for South Asian and African American children achieved lower accuracy (as much as 11.56%) and F1-score (as much as 11.25%) than other groups. CONCLUSIONS With specialized design and optimization techniques, facial expression classifiers can become lightweight enough to run on mobile devices and achieve state-of-the-art performance. There is potentially a “data shift” phenomenon between facial expressions of children compared with adults; our classifiers performed much better when trained on children. Certain underrepresented ethnic groups (e.g., South Asian and African American) also perform significantly worse than groups such as European Caucasian despite similar data quality. Our models can be integrated into mobile health therapies to help diagnose autism spectrum disorder and provide targeted therapeutic treatment to children.

As the last decade of human genomics research begins to bear the fruit of advancements in precision medicine, it is important to ensure that genomics’ improvements in human health are distributed globally and equitably. An important step to ensuring health equity is to improve the human reference genome to capture global diversity by including a wide variety of alternative haplotypes, sequences that are not currently captured on the reference genome. We present a method that localizes 100 basepair (bp) long sequences extracted from short-read sequencing that can ultimately be used to identify what regions of the human genome non-reference sequences belong to. We extract reads that don’t align to the reference genome, and compute the population’s distribution of 100-mers found within the unmapped reads. We use genetic data from families to identify shared genetic material between siblings and match the distribution of unmapped k-mers to these inheritance patterns to determine the the most likely genomic region of a k-mer. We perform this localization with two highly interpretable methods of artificial intelligence: a computationally tractable Hidden Markov Model coupled to a Maximum Likelihood Estimator. Using a set of alternative haplotypes with known locations on the genome, we show that our algorithm is able to localize 96% of k-mers with over 90% accuracy and less than 1Mb median resolution. As the collection of sequenced human genomes grows larger and more diverse, we hope that this method can be used to improve the human reference genome, a critical step in addressing precision medicine’s diversity crisis.

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.

BACKGROUND Selection bias and unmeasured confounding are fundamental problems in epidemiology that threaten study internal and external validity. These phenomena are particularly dangerous in internet-based public health surveillance, where traditional mitigation and adjustment methods are inapplicable, unavailable, or out of date. Recent theoretical advances in causal modeling can mitigate these threats, but these innovations have not been widely deployed in the epidemiological community. OBJECTIVE The purpose of our paper is to demonstrate the practical utility of causal modeling to both detect unmeasured confounding and selection bias and guide model selection to minimize bias. We implemented this approach in an applied epidemiological study of the COVID-19 cumulative infection rate in the New York City (NYC) spring 2020 epidemic. METHODS We collected primary data from Qualtrics surveys of Amazon Mechanical Turk (MTurk) crowd workers residing in New Jersey and New York State across 2 sampling periods: April 11-14 and May 8-11, 2020. The surveys queried the subjects on household health status and demographic characteristics. We constructed a set of possible causal models of household infection and survey selection mechanisms and ranked them by compatibility with the collected survey data. The most compatible causal model was then used to estimate the cumulative infection rate in each survey period. RESULTS There were 527 and 513 responses collected for the 2 periods, respectively. Response demographics were highly skewed toward a younger age in both survey periods. Despite the extremely strong relationship between age and COVID-19 symptoms, we recovered minimally biased estimates of the cumulative infection rate using only primary data and the most compatible causal model, with a relative bias of +3.8% and –1.9% from the reported cumulative infection rate for the first and second survey periods, respectively. CONCLUSIONS We successfully recovered accurate estimates of the cumulative infection rate from an internet-based crowdsourced sample despite considerable selection bias and unmeasured confounding in the primary data. This implementation demonstrates how simple applications of structural causal modeling can be effectively used to determine falsifiable model conditions, detect selection bias and confounding factors, and minimize estimate bias through model selection in a novel epidemiological context. As the disease and social dynamics of COVID-19 continue to evolve, public health surveillance protocols must continue to adapt; the emergence of Omicron variants and shift to at-home testing as recent challenges. Rigorous and transparent methods to develop, deploy, and diagnosis adapted surveillance protocols will be critical to their success.

A formal autism diagnosis can be an inefficient and lengthy process. Families may wait months or longer before receiving a diagnosis for their child despite evidence that earlier intervention leads to better treatment outcomes. Digital technologies which detect the presence of behaviors related to autism can scale access to pediatric diagnoses. This work aims to demonstrate the feasibility of deep learning technologies for detecting hand flapping from unstructured home videos as a first step towards validating whether models and digital technologies can be leveraged to aid with autism diagnoses. We used the Self-Stimulatory Behavior Dataset (SSBD), which contains 75 videos of hand flapping, head banging, and spinning exhibited by children. From all the hand flapping videos, we extracted 100 positive and control videos of hand flapping, each between 2 to 5 seconds in duration. Utilizing both landmark-driven-approaches and MobileNet V2's pretrained convolutional layers, our highest performing model achieved a testing F1 score of 84% (90% precision and 80% recall) when evaluating with 5-fold cross validation 100 times. This work provides the first step towards developing precise deep learning methods for activity detection of autism-related behaviors., Comment: JMIR Biomedical Engineering '22, To Be Presented at DataBricks Conference '22

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.

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.

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.

Finding genetic risk factors of complex disorders may involve reviewing hundreds of genes or thousands of research articles iteratively, but few tools have been available to facilitate this procedure. In this work, we built a novel publication search engine that can identify target-disorder specific, genetics-oriented research articles and extract the genes with significant results. Preliminary test results showed that the output of this engine has better coverage in terms of genes or publications, than other existing applications. We consider it as an essential tool for understanding genetic networks of complex disorders.