scholarly journals Is Smiling the Key? Machine Learning Analytics Detect Subtle Patterns in Micro-Expressions of Infants with ASD

2021 ◽  
Vol 10 (8) ◽  
pp. 1776
Author(s):  
Gianpaolo Alvari ◽  
Cesare Furlanello ◽  
Paola Venuti

Time is a key factor to consider in Autism Spectrum Disorder. Detecting the condition as early as possible is crucial in terms of treatment success. Despite advances in the literature, it is still difficult to identify early markers able to effectively forecast the manifestation of symptoms. Artificial intelligence (AI) provides effective alternatives for behavior screening. To this end, we investigated facial expressions in 18 autistic and 15 typical infants during their first ecological interactions, between 6 and 12 months of age. We employed Openface, an AI-based software designed to systematically analyze facial micro-movements in images in order to extract the subtle dynamics of Social Smiles in unconstrained Home Videos. Reduced frequency and activation intensity of Social Smiles was computed for children with autism. Machine Learning models enabled us to map facial behavior consistently, exposing early differences hardly detectable by non-expert naked eye. This outcome contributes to enhancing the potential of AI as a supportive tool for the clinical framework.

2019 ◽  
Author(s):  
Qandeel Tariq ◽  
Scott Lanyon Fleming ◽  
Jessey Nicole Schwartz ◽  
Kaitlyn Dunlap ◽  
Conor Corbin ◽  
...  

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.


2018 ◽  
Vol 25 (8) ◽  
pp. 1000-1007 ◽  
Author(s):  
Halim Abbas ◽  
Ford Garberson ◽  
Eric Glover ◽  
Dennis P Wall

Abstract Background Existing screening tools for early detection of autism are expensive, cumbersome, time- intensive, and sometimes fall short in predictive value. In this work, we sought to apply Machine Learning (ML) to gold standard clinical data obtained across thousands of children at-risk for autism spectrum disorder to create a low-cost, quick, and easy to apply autism screening tool. Methods Two algorithms are trained to identify autism, one based on short, structured parent-reported questionnaires and the other on tagging key behaviors from short, semi-structured home videos of children. A combination algorithm is then used to combine the results into a single assessment of higher accuracy. To overcome the scarcity, sparsity, and imbalance of training data, we apply novel feature selection, feature engineering, and feature encoding techniques. We allow for inconclusive determination where appropriate in order to boost screening accuracy when conclusive. The performance is then validated in a controlled clinical study. Results A multi-center clinical study of n = 162 children is performed to ascertain the performance of these algorithms and their combination. We demonstrate a significant accuracy improvement over standard screening tools in measurements of AUC, sensitivity, and specificity. Conclusion These findings suggest that a mobile, machine learning process is a reliable method for detection of autism outside of clinical settings. A variety of confounding factors in the clinical analysis are discussed along with the solutions engineered into the algorithms. Final results are statistically limited and will benefit from future clinical studies to extend the sample size.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Peter Washington ◽  
Qandeel Tariq ◽  
Emilie Leblanc ◽  
Brianna Chrisman ◽  
Kaitlyn Dunlap ◽  
...  

AbstractStandard 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.


2021 ◽  
Vol 27 (1) ◽  
pp. 146045822199188
Author(s):  
Mohamed A. Nabil ◽  
Ansam Akram ◽  
Karma M Fathalla

Autism Spectrum Disorder (Autism) is a developmental disorder that impedes the social and communication capabilities of a person through out his life. Early detection of autism is critical in contributing to better prognosis. In this study, the use of home videos to provide accessible diagnosis is investigated. A machine learning approach is adopted to detect autism from home videos. Feature selection and state-of-the-art classification methods are applied to provide a sound diagnosis based on home video ratings obtained from non-clinicians feedback. Our models results indicate that home videos can effectively detect autistic group with True Positive Rate reaching 94.05% using Support Vector Machines and backwards feature selection. In this study, human-interpretable models are presented to elucidate the reasoning behind the classification process and its subsequent decision. In addition, the prime features that need to be monitored for early autism detection are revealed.


2019 ◽  
Author(s):  
Sun Jae Moon ◽  
Jin Seub Hwang ◽  
Rajesh Kana ◽  
John Torous ◽  
Jung Won Kim

BACKGROUND Over the recent years, machine learning algorithms have been more widely and increasingly applied in biomedical fields. In particular, its application has been drawing more attention in the field of psychiatry, for instance, as diagnostic tests/tools for autism spectrum disorder. However, given its complexity and potential clinical implications, there is ongoing need for further research on its accuracy. OBJECTIVE The current study aims to summarize the evidence for the accuracy of use of machine learning algorithms in diagnosing autism spectrum disorder (ASD) through systematic review and meta-analysis. METHODS MEDLINE, Embase, CINAHL Complete (with OpenDissertations), PsyINFO and IEEE Xplore Digital Library databases were searched on November 28th, 2018. Studies, which used a machine learning algorithm partially or fully in classifying ASD from controls and provided accuracy measures, were included in our analysis. Bivariate random effects model was applied to the pooled data in meta-analysis. Subgroup analysis was used to investigate and resolve the source of heterogeneity between studies. True-positive, false-positive, false negative and true-negative values from individual studies were used to calculate the pooled sensitivity and specificity values, draw SROC curves, and obtain area under the curve (AUC) and partial AUC. RESULTS A total of 43 studies were included for the final analysis, of which meta-analysis was performed on 40 studies (53 samples with 12,128 participants). A structural MRI subgroup meta-analysis (12 samples with 1,776 participants) showed the sensitivity at 0.83 (95% CI-0.76 to 0.89), specificity at 0.84 (95% CI -0.74 to 0.91), and AUC/pAUC at 0.90/0.83. An fMRI/deep neural network (DNN) subgroup meta-analysis (five samples with 1,345 participants) showed the sensitivity at 0.69 (95% CI- 0.62 to 0.75), the specificity at 0.66 (95% CI -0.61 to 0.70), and AUC/pAUC at 0.71/0.67. CONCLUSIONS Machine learning algorithms that used structural MRI features in diagnosis of ASD were shown to have accuracy that is similar to currently used diagnostic tools.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Alexandre Maciel-Guerra ◽  
Necati Esener ◽  
Katharina Giebel ◽  
Daniel Lea ◽  
Martin J. Green ◽  
...  

AbstractStreptococcus uberis is one of the leading pathogens causing mastitis worldwide. Identification of S. uberis strains that fail to respond to treatment with antibiotics is essential for better decision making and treatment selection. We demonstrate that the combination of supervised machine learning and matrix-assisted laser desorption ionization/time of flight (MALDI-TOF) mass spectrometry can discriminate strains of S. uberis causing clinical mastitis that are likely to be responsive or unresponsive to treatment. Diagnostics prediction systems trained on 90 individuals from 26 different farms achieved up to 86.2% and 71.5% in terms of accuracy and Cohen’s kappa. The performance was further increased by adding metadata (parity, somatic cell count of previous lactation and count of positive mastitis cases) to encoded MALDI-TOF spectra, which increased accuracy and Cohen’s kappa to 92.2% and 84.1% respectively. A computational framework integrating protein–protein networks and structural protein information to the machine learning results unveiled the molecular determinants underlying the responsive and unresponsive phenotypes.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Margot Gunning ◽  
Paul Pavlidis

AbstractDiscovering genes involved in complex human genetic disorders is a major challenge. Many have suggested that machine learning (ML) algorithms using gene networks can be used to supplement traditional genetic association-based approaches to predict or prioritize disease genes. However, questions have been raised about the utility of ML methods for this type of task due to biases within the data, and poor real-world performance. Using autism spectrum disorder (ASD) as a test case, we sought to investigate the question: can machine learning aid in the discovery of disease genes? We collected 13 published ASD gene prioritization studies and evaluated their performance using known and novel high-confidence ASD genes. We also investigated their biases towards generic gene annotations, like number of association publications. We found that ML methods which do not incorporate genetics information have limited utility for prioritization of ASD risk genes. These studies perform at a comparable level to generic measures of likelihood for the involvement of genes in any condition, and do not out-perform genetic association studies. Future efforts to discover disease genes should be focused on developing and validating statistical models for genetic association, specifically for association between rare variants and disease, rather than developing complex machine learning methods using complex heterogeneous biological data with unknown reliability.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
L. Palkova ◽  
A. Tomova ◽  
G. Repiska ◽  
K. Babinska ◽  
B. Bokor ◽  
...  

AbstractAbstract intestinal microbiota is becoming a significant marker that reflects differences between health and disease status also in terms of gut-brain axis communication. Studies show that children with autism spectrum disorder (ASD) often have a mix of gut microbes that is distinct from the neurotypical children. Various assays are being used for microbiota investigation and were considered to be universal. However, newer studies showed that protocol for preparing DNA sequencing libraries is a key factor influencing results of microbiota investigation. The choice of DNA amplification primers seems to be the crucial for the outcome of analysis. In our study, we have tested 3 primer sets to investigate differences in outcome of sequencing analysis of microbiota in children with ASD. We found out that primers detected different portion of bacteria in samples especially at phylum level; significantly higher abundance of Bacteroides and lower Firmicutes were detected using 515f/806r compared to 27f/1492r and 27f*/1495f primers. So, the question is whether a gold standard of Firmicutes/Bacteroidetes ratio is a valuable and reliable universal marker, since two primer sets towards 16S rRNA can provide opposite information. Moreover, significantly higher relative abundance of Proteobacteria was detected using 27f/1492r. The beta diversity of sample groups differed remarkably and so the number of observed bacterial genera.


2021 ◽  
Vol 11 (5) ◽  
pp. 603
Author(s):  
Chunlei Shi ◽  
Xianwei Xin ◽  
Jiacai Zhang

Machine learning methods are widely used in autism spectrum disorder (ASD) diagnosis. Due to the lack of labelled ASD data, multisite data are often pooled together to expand the sample size. However, the heterogeneity that exists among different sites leads to the degeneration of machine learning models. Herein, the three-way decision theory was introduced into unsupervised domain adaptation in the first time, and applied to optimize the pseudolabel of the target domain/site from functional magnetic resonance imaging (fMRI) features related to ASD patients. The experimental results using multisite fMRI data show that our method not only narrows the gap of the sample distribution among domains but is also superior to the state-of-the-art domain adaptation methods in ASD recognition. Specifically, the ASD recognition accuracy of the proposed method is improved on all the six tasks, by 70.80%, 75.41%, 69.91%, 72.13%, 71.01% and 68.85%, respectively, compared with the existing methods.


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