Dataset Information

Identification of autism spectrum disorder using deep learning and the ABIDE dataset.

ABSTRACT: The goal of the present study was to apply deep learning algorithms to identify autism spectrum disorder (ASD) patients from large brain imaging dataset, based solely on the patients brain activation patterns. We investigated ASD patients brain imaging data from a world-wide multi-site database known as ABIDE (Autism Brain Imaging Data Exchange). ASD is a brain-based disorder characterized by social deficits and repetitive behaviors. According to recent Centers for Disease Control data, ASD affects one in 68 children in the United States. We investigated patterns of functional connectivity that objectively identify ASD participants from functional brain imaging data, and attempted to unveil the neural patterns that emerged from the classification. The results improved the state-of-the-art by achieving 70% accuracy in identification of ASD versus control patients in the dataset. The patterns that emerged from the classification show an anticorrelation of brain function between anterior and posterior areas of the brain; the anticorrelation corroborates current empirical evidence of anterior-posterior disruption in brain connectivity in ASD. We present the results and identify the areas of the brain that contributed most to differentiating ASD from typically developing controls as per our deep learning model.

SUBMITTER: Heinsfeld AS

PROVIDER: S-EPMC5635344 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Identification of autism spectrum disorder using deep learning and the ABIDE dataset.

Heinsfeld Anibal Sólon AS Franco Alexandre Rosa AR Craddock R Cameron RC Buchweitz Augusto A Meneguzzi Felipe F

NeuroImage. Clinical 20170830

The goal of the present study was to apply deep learning algorithms to identify autism spectrum disorder (ASD) patients from large brain imaging dataset, based solely on the patients brain activation patterns. We investigated ASD patients brain imaging data from a world-wide multi-site database known as ABIDE (Autism Brain Imaging Data Exchange). ASD is a brain-based disorder characterized by social deficits and repetitive behaviors. According to recent Centers for Disease Control data, ASD affe ...[more]

PMID: 29034163

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Project description:BackgroundIn the United States, about 3 million people have autism spectrum disorder (ASD), and around 1 out of 59 children are diagnosed with ASD. People with ASD have characteristic social communication deficits and repetitive behaviors. The causes of this disorder remain unknown; however, in up to 25% of cases, a genetic cause can be identified. Detecting ASD as early as possible is desirable because early detection of ASD enables timely interventions in children with ASD. Identification of ASD based on objective pathogenic mutation screening is the major first step toward early intervention and effective treatment of affected children.ObjectiveRecent investigation interrogated genomics data for detecting and treating autism disorders, in addition to the conventional clinical interview as a diagnostic test. Since deep neural networks perform better than shallow machine learning models on complex and high-dimensional data, in this study, we sought to apply deep learning to genetic data obtained across thousands of simplex families at risk for ASD to identify contributory mutations and to create an advanced diagnostic classifier for autism screening.MethodsAfter preprocessing the genomics data from the Simons Simplex Collection, we extracted top ranking common variants that may be protective or pathogenic for autism based on a chi-square test. A convolutional neural network-based diagnostic classifier was then designed using the identified significant common variants to predict autism. The performance was then compared with shallow machine learning-based classifiers and randomly selected common variants.ResultsThe selected contributory common variants were significantly enriched in chromosome X while chromosome Y was also discriminatory in determining the identification of autistic individuals from nonautistic individuals. The ARSD, MAGEB16, and MXRA5 genes had the largest effect in the contributory variants. Thus, screening algorithms were adapted to include these common variants. The deep learning model yielded an area under the receiver operating characteristic curve of 0.955 and an accuracy of 88% for identifying autistic individuals from nonautistic individuals. Our classifier demonstrated a considerable improvement of ~13% in terms of classification accuracy compared to standard autism screening tools.ConclusionsCommon variants are informative for autism identification. Our findings also suggest that the deep learning process is a reliable method for distinguishing the diseased group from the control group based on the common variants of autism.

Project description:Autism spectrum disorder (ASD) is a highly complex neurodevelopmental disorder characterized by deficits in sociability and repetitive behaviour, however there is a great heterogeneity within other comorbidities that accompany ASD. Recently, gut microbiome has been pointed out as a plausible contributing factor for ASD development as individuals diagnosed with ASD often suffer from intestinal problems and show a differentiated intestinal microbial composition. Nevertheless, gut microbiome studies in ASD rarely agree on the specific bacterial taxa involved in this disorder. Regarding the potential role of gut microbiome in ASD pathophysiology, our aim is to investigate whether there is a set of bacterial taxa relevant for ASD classification by using a sibling-controlled dataset. Additionally, we aim to validate these results across two independent cohorts as several confounding factors, such as lifestyle, influence both ASD and gut microbiome studies. A machine learning approach, recursive ensemble feature selection (REFS), was applied to 16S rRNA gene sequencing data from 117 subjects (60 ASD cases and 57 siblings) identifying 26 bacterial taxa that discriminate ASD cases from controls. The average area under the curve (AUC) of this specific set of bacteria in the sibling-controlled dataset was 81.6%. Moreover, we applied the selected bacterial taxa in a tenfold cross-validation scheme using two independent cohorts (a total of 223 samples-125 ASD cases and 98 controls). We obtained average AUCs of 74.8% and 74%, respectively. Analysis of the gut microbiome using REFS identified a set of bacterial taxa that can be used to predict the ASD status of children in three distinct cohorts with AUC over 80% for the best-performing classifiers. Our results indicate that the gut microbiome has a strong association with ASD and should not be disregarded as a potential target for therapeutic interventions. Furthermore, our work can contribute to use the proposed approach for identifying microbiome signatures across other 16S rRNA gene sequencing datasets.

Project description:BackgroundThe increasing use of social media platforms has given rise to an unprecedented surge in user-generated content, with millions of individuals publicly sharing their thoughts, experiences, and health-related information. Social media can serve as a useful means to study and understand public health. Twitter (subsequently rebranded as "X") is one such social media platform that has proven to be a valuable source of rich information for both the general public and health officials. We conducted the first study applying Twitter data mining to autism screening.ObjectiveThis study used Twitter as the primary source of data to study the behavioral characteristics and real-time emotional projections of individuals identifying with autism spectrum disorder (ASD). We aimed to improve the rigor of ASD analytics research by using the digital footprint of an individual to study the linguistic patterns of individuals with ASD.MethodsWe developed a machine learning model to distinguish individuals with autism from their neurotypical peers based on the textual patterns from their public communications on Twitter. We collected 6,515,470 tweets from users' self-identification with autism using "#ActuallyAutistic" and a separate control group to identify linguistic markers associated with ASD traits. To construct the data set, we targeted English-language tweets using the search query "#ActuallyAutistic" posted from January 1, 2014, to December 31, 2022. From these tweets, we identified unique users who used keywords such as "autism" OR "autistic" OR "neurodiverse" in their profile description and collected all the tweets from their timeline. To build the control group data set, we formulated a search query excluding the hashtag, "-#ActuallyAutistic," and collected 1000 tweets per day during the same time period. We trained a word2vec model and an attention-based, bidirectional long short-term memory model to validate the performance of per-tweet and per-profile classification models. We also illustrate the utility of the data set through common natural language processing tasks such as sentiment analysis and topic modeling.ResultsOur tweet classifier reached a 73% accuracy, a 0.728 area under the receiver operating characteristic curve score, and an 0.71 F1-score using word2vec representations fed into a logistic regression model, while the user profile classifier achieved an 0.78 area under the receiver operating characteristic curve score and an F1-score of 0.805 using an attention-based, bidirectional long short-term memory model. This is a promising start, demonstrating the potential for effective digital phenotyping studies and large-scale intervention using text data mined from social media.ConclusionsTextual differences in social media communications can help researchers and clinicians conduct symptomatology studies in natural settings.

Dataset Information

Identification of autism spectrum disorder using deep learning and the ABIDE dataset.

Publications

Identification of autism spectrum disorder using deep learning and the ABIDE dataset.

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