Dataset Information

Applying Artificial Intelligence for Diagnostic Classification of Korean Autism Spectrum Disorder.

ABSTRACT: Objective: The primary objective of this study was to predict subgroups of autism spectrum disorder (ASD) based on the Diagnostic Statistical Manual for Mental Disorders-IV Text Revision (DSM-IV-TR) by machine learning (ML). The secondary objective was to set up a ranking of Autism Diagnostic Interview-Revised (ADI-R) diagnostic algorithm items based on ML, and to confirm whether ML can sufficiently predict the diagnosis with these minimum items.

Methods: In the first experiment, a multiclass decision forest algorithm was applied, and the diagnostic algorithm score value of 1,269 Korean ADI-R test data was used for prediction. In the second experiment, we used 539 Korean ADI-R case data (over 48 months with verbal language) to apply mutual information to rank items used in the ADI diagnostic algorithm.

Results: In the first experiment, the results of predicting in the case of pervasive developmental disorder not otherwise specified as "ASD" were almost three times higher than predicting it as "No diagnosis." In the second experiment, the top 10 ranking items of ADI-R were mainly related to the quality abnormality of communication.

Conclusion: In conclusion, we verified the applicability of ML in diagnosis and found that the application of artificial intelligence for rapid diagnosis or screening of ASD patients may be useful.

SUBMITTER: Choi ES

PROVIDER: S-EPMC7711119 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

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Applying Artificial Intelligence for Diagnostic Classification of Korean Autism Spectrum Disorder.

Choi Eun Soo ES Yoo Hee Jeong HJ Kang Min Soo MS Kim Soon Ae SA

Psychiatry investigation 20201027 11

<h4>Objective</h4>The primary objective of this study was to predict subgroups of autism spectrum disorder (ASD) based on the Diagnostic Statistical Manual for Mental Disorders-IV Text Revision (DSM-IV-TR) by machine learning (ML). The secondary objective was to set up a ranking of Autism Diagnostic Interview-Revised (ADI-R) diagnostic algorithm items based on ML, and to confirm whether ML can sufficiently predict the diagnosis with these minimum items.<h4>Methods</h4>In the first experiment, a ...[more]

PMID: 33099989

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Project description:Autism spectrum disorder (ASD) can be reliably diagnosed at 18 months, yet significant diagnostic delays persist in the United States. This double-blinded, multi-site, prospective, active comparator cohort study tested the accuracy of an artificial intelligence-based Software as a Medical Device designed to aid primary care healthcare providers (HCPs) in diagnosing ASD. The Device combines behavioral features from three distinct inputs (a caregiver questionnaire, analysis of two short home videos, and an HCP questionnaire) in a gradient boosted decision tree machine learning algorithm to produce either an ASD positive, ASD negative, or indeterminate output. This study compared Device outputs to diagnostic agreement by two or more independent specialists in a cohort of 18-72-month-olds with developmental delay concerns (425 study completers, 36% female, 29% ASD prevalence). Device output PPV for all study completers was 80.8% (95% confidence intervals (CI), 70.3%-88.8%) and NPV was 98.3% (90.6%-100%). For the 31.8% of participants who received a determinate output (ASD positive or negative) Device sensitivity was 98.4% (91.6%-100%) and specificity was 78.9% (67.6%-87.7%). The Device's indeterminate output acts as a risk control measure when inputs are insufficiently granular to make a determinate recommendation with confidence. If this risk control measure were removed, the sensitivity for all study completers would fall to 51.6% (63/122) (95% CI 42.4%, 60.8%), and specificity would fall to 18.5% (56/303) (95% CI 14.3%, 23.3%). Among participants for whom the Device abstained from providing a result, specialists identified that 91% had one or more complex neurodevelopmental disorders. No significant differences in Device performance were found across participants' sex, race/ethnicity, income, or education level. For nearly a third of this primary care sample, the Device enabled timely diagnostic evaluation with a high degree of accuracy. The Device shows promise to significantly increase the number of children able to be diagnosed with ASD in a primary care setting, potentially facilitating earlier intervention and more efficient use of specialist resources.

Project description:BACKGROUND:Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with an unknown etiology. Early diagnosis and intervention are key to improving outcomes for patients with ASD. Structural magnetic resonance imaging (sMRI) has been widely used in clinics to facilitate the diagnosis of brain diseases such as brain tumors. However, sMRI is less frequently used to investigate neurological and psychiatric disorders, such as ASD, owing to the subtle, if any, anatomical changes of the brain. OBJECTIVE:This study aimed to investigate the possibility of identifying structural patterns in the brain of patients with ASD as potential biomarkers in the diagnosis and evaluation of ASD in clinics. METHODS:We developed a novel 2-level histogram-based morphometry (HBM) classification framework in which an algorithm based on a 3D version of the histogram of oriented gradients (HOG) was used to extract features from sMRI data. We applied this framework to distinguish patients with ASD from healthy controls using 4 datasets from the second edition of the Autism Brain Imaging Data Exchange, including the ETH Zürich (ETH), NYU Langone Medical Center: Sample 1, Oregon Health and Science University, and Stanford University (SU) sites. We used a stratified 10-fold cross-validation method to evaluate the model performance, and we applied the Naive Bayes approach to identify the predictive ASD-related brain regions based on classification contributions of each HOG feature. RESULTS:On the basis of the 3D HOG feature extraction method, our proposed HBM framework achieved an area under the curve (AUC) of >0.75 in each dataset, with the highest AUC of 0.849 in the ETH site. We compared the 3D HOG algorithm with the original 2D HOG algorithm, which showed an accuracy improvement of >4% in each dataset, with the highest improvement of 14% (6/42) in the SU site. A comparison of the 3D HOG algorithm with the scale-invariant feature transform algorithm showed an AUC improvement of >18% in each dataset. Furthermore, we identified ASD-related brain regions based on the sMRI images. Some of these regions (eg, frontal gyrus, temporal gyrus, cingulate gyrus, postcentral gyrus, precuneus, caudate, and hippocampus) are known to be implicated in ASD in prior neuroimaging literature. We also identified less well-known regions that may play unrecognized roles in ASD and be worth further investigation. CONCLUSIONS:Our research suggested that it is possible to identify neuroimaging biomarkers that can distinguish patients with ASD from healthy controls based on the more cost-effective sMRI images of the brain. We also demonstrated the potential of applying data-driven artificial intelligence technology in the clinical setting of neurological and psychiatric disorders, which usually harbor subtle anatomical changes in the brain that are often invisible to the human eye.

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Dataset Information

Applying Artificial Intelligence for Diagnostic Classification of Korean Autism Spectrum Disorder.

Publications

Applying Artificial Intelligence for Diagnostic Classification of Korean Autism Spectrum Disorder.

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