Autism spectrum disorder (ASD) research has yet to leverage “big data” on the same scale as other fields; however, advancements in easy, affordable data collection and analysis may soon make this a reality. Indeed, there has been a notable increase in research literature evaluating the effectiveness of machine learning for diagnosing ASD, exploring its genetic underpinnings, and designing effective interventions. This paper provides a comprehensive review of 45 papers utilizing supervised machine learning in ASD, including algorithms for classification and text analysis. The goal of the paper is to identify and describe supervised machine learning trends in ASD literature as well as inform and guide researchers interested in expanding the body of clinically, computationally, and statistically sound approaches for mining ASD data.

Autism spectrum disorder (ASD) is a heterogeneous disorder. Research has explored potential ASD subgroups with preliminary evidence supporting the existence of behaviorally and genetically distinct subgroups; however, research has yet to leverage machine learning to identify phenotypes on a scale large enough to robustly examine treatment response across such subgroups. The purpose of the present study was to apply Gaussian Mixture Models and Hierarchical Clustering to identify behavioral phenotypes of ASD and examine treatment response across the learned phenotypes. The present study included a sample of children with ASD (N = 2400), the largest of its kind to date. Unsupervised machine learning was applied to model ASD subgroups as well as their taxonomic relationships. Retrospective treatment data were available for a portion of the sample (n = 1034). Treatment response was examined within each subgroup via regression. The application of a Gaussian Mixture Model revealed 16 subgroups. Further examination of the subgroups through Hierarchical Agglomerative Clustering suggested 2 overlying behavioral phenotypes with unique deficit profiles each composed of subgroups that differed in severity of those deficits. Furthermore, differentiated response to treatment was found across subtypes, with a substantially higher amount of variance accounted for due to the homogenization effect of the clustering. The high amount of variance explained by the regression models indicates that clustering provides a basis for homogenization, and thus an opportunity to tailor treatment based on cluster memberships. These findings have significant implications on prognosis and targeted treatment of ASD, and pave the way for personalized intervention based on unsupervised machine learning.

We describe a virtual reality environment, Bob’s Fish Shop, which provides a system where users diagnosed with Autism Spectrum Disorder (ASD) can practice social interactions in a safe and controlled environment. A case study is presented which suggests such an environment can provide the opportunity for users to build the skills necessary to carry out a conversation without the fear of negative social consequences present in the physical world. Through the repetition and analysis of these virtual interactions, users can improve social and conversational understanding.

Large amounts of autism spectrum disorder (ASD) data is created through hospitals, therapy centers, and mobile applications; however, much of this rich data does not have pre-existing classes or labels. Large amounts of data—both genetic and behavioral—that are collected as part of scientific studies or a part of treatment can provide a deeper, more nuanced insight into both diagnosis and treatment of ASD. This paper reviews 43 papers using unsupervised machine learning in ASD, including k-means clustering, hierarchical clustering, model-based clustering, and self-organizing maps. The aim of this review is to provide a survey of the current uses of unsupervised machine learning in ASD research and provide insight into the types of questions being answered with these methods.

Despite the abundance of research on coral reef change detection, few studies have been conducted to assess the spatial generalization principles of a live coral cover classifier trained using remote sensing data from multiple locations. The aim of this study is to develop a machine learning classifier for coral dominated benthic cover-type class (CDBCTC) based on ground truth observations and Landsat images, evaluate the performance of this classifier when tested against new data, then deploy the classifier to perform CDBCTC change analysis of multiple locations. The proposed framework includes image calibration, support vector machine (SVM) training and tuning, statistical assessment of model accuracy, and temporal pixel-based image differencing. Validation of the methodology was performed by cross-validation and train/test split using ground truth observations of benthic cover from four different reefs. These four locations (Palmyra Atoll, Kingman Reef, Baker Island Atoll, and Howland Island) as well as two additional locations (Kiritimati Island and Tabuaeran Island) were then evaluated for CDBCTC change detection. The in-situ training accuracy against ground truth observations for Palmyra Atoll, Kingman Reef, Baker Island Atoll, and Howland Island were 87.9%, 85.7%, 69.2%, and 82.1% respectively. The classifier attained generalized accuracy scores of 78.8%, 81.0%, 65.4%, and 67.9% for the respective locations when trained using ground truth observations from neighboring reefs and tested against the local ground truth observations of each reef. The classifier was trained using the consolidated ground truth data of all four sites and attained a cross-validated accuracy of 75.3%. The CDBCTC change detection analysis showed a decrease in CDBCTC of 32% at Palmyra Atoll, 25% at Kingman Reef, 40% at Baker Island Atoll, 25% at Howland Island, 35% at Tabuaeran Island, and 43% at Kiritimati Island. This research establishes a methodology for developing a robust classifier and the associated Controlled Parameter Cross-Validation (CPCV) process for evaluating how well the model will generalize to new data. It is an important step for improving the scientific understanding of temporal change within coral reefs around the globe.

Background: Coronary heart disease, heart failure (HF), and stroke are complex diseases with multiple phenotypes. While many risk factors for these diseases are well known, investigation of as-yet unidentified risk factors may improve risk assessment and patient adherence to prevention guidelines. We investigated the diet domain in FHS (Framingham Heart Study), CHS (Cardiovascular Heart Study), and the ARIC study (Atherosclerosis Risk in Communities) to identify potential lifestyle and behavioral factors associated with coronary heart disease, HF, and stroke. Methods: We used machine learning feature selection based on random forest analysis to identify potential risk factors associated with coronary heart disease, stroke, and HF in FHS. We evaluated the significance of selected variables using univariable and multivariable Cox proportional hazards analysis adjusted for known cardiovascular risks. Findings from FHS were then validated using CHS and ARIC. Results: We identified multiple dietary and behavioral risk factors for cardiovascular disease outcomes including marital status, red meat consumption, whole milk consumption, and coffee consumption. Among these dietary variables, increasing coffee consumption was associated with decreasing long-term risk of HF congruently in FHS, ARIC, and CHS. Conclusions: Higher coffee intake was found to be associated with reduced risk of HF in all three studies. Further study is warranted to better define the role, possible causality, and potential mechanism of coffee consumption as a potential modifiable risk factor for HF.