Dataset Information

Machine Learning-Based Blood RNA Signature for Diagnosis of Autism Spectrum Disorder.

ABSTRACT: Early diagnosis of autism spectrum disorder (ASD) is crucial for providing appropriate treatments and parental guidance from an early age. Yet, ASD diagnosis is a lengthy process, in part due to the lack of reliable biomarkers. We recently applied RNA-sequencing of peripheral blood samples from 73 American and Israeli children with ASD and 26 neurotypically developing (NT) children to identify 10 genes with dysregulated blood expression levels in children with ASD. Machine learning (ML) analyzes data by computerized analytical model building and may be applied to building diagnostic tools based on the optimization of large datasets. Here, we present several ML-generated models, based on RNA expression datasets collected during our recently published RNA-seq study, as tentative tools for ASD diagnosis. Using the random forest classifier, two of our proposed models yield an accuracy of 82% in distinguishing children with ASD and NT children. Our proof-of-concept study requires refinement and independent validation by studies with far larger cohorts of children with ASD and NT children and should thus be perceived as starting point for building more accurate ML-based tools. Eventually, such tools may potentially provide an unbiased means to support the early diagnosis of ASD.

SUBMITTER: Voinsky I

PROVIDER: S-EPMC9916487 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature

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Machine Learning-Based Blood RNA Signature for Diagnosis of Autism Spectrum Disorder.

Voinsky Irena I Fridland Oleg Y OY Aran Adi A Frye Richard E RE Gurwitz David D

International journal of molecular sciences 20230120 3

Early diagnosis of autism spectrum disorder (ASD) is crucial for providing appropriate treatments and parental guidance from an early age. Yet, ASD diagnosis is a lengthy process, in part due to the lack of reliable biomarkers. We recently applied RNA-sequencing of peripheral blood samples from 73 American and Israeli children with ASD and 26 neurotypically developing (NT) children to identify 10 genes with dysregulated blood expression levels in children with ASD. Machine learning (ML) analyzes ...[more]

PMID: 36768401

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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

Machine Learning-Based Blood RNA Signature for Diagnosis of Autism Spectrum Disorder.

Publications

Machine Learning-Based Blood RNA Signature for Diagnosis of Autism Spectrum Disorder.

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