scholarly journals Autistic Spectrum Disorder Detection and Structural Biomarker Identification Using Self-Attention Model and Individual-Level Morphological Covariance Brain Networks

2021 ◽  
Vol 15 ◽  
Author(s):  
Zhengning Wang ◽  
Dawei Peng ◽  
Yongbin Shang ◽  
Jingjing Gao

Autism spectrum disorder (ASD) is a range of neurodevelopmental disorders, which brings enormous burdens to the families of patients and society. However, due to the lack of representation of variance for diseases and the absence of biomarkers for diagnosis, the early detection and intervention of ASD are remarkably challenging. In this study, we proposed a self-attention deep learning framework based on the transformer model on structural MR images from the ABIDE consortium to classify ASD patients from normal controls and simultaneously identify the structural biomarkers. In our work, the individual structural covariance networks are used to perform ASD/NC classification via a self-attention deep learning framework, instead of the original structural MR data, to take full advantage of the coordination patterns of morphological features between brain regions. The self-attention deep learning framework based on the transformer model can extract both local and global information from the input data, making it more suitable for the brain network data than the CNN- structural model. Meanwhile, the potential diagnosis structural biomarkers are identified by the self-attention coefficients map. The experimental results showed that our proposed method outperforms most of the current methods for classifying ASD patients with the ABIDE data and achieves a classification accuracy of 72.5% across different sites. Furthermore, the potential diagnosis biomarkers were found mainly located in the prefrontal cortex, temporal cortex, and cerebellum, which may be treated as the early biomarkers for the ASD diagnosis. Our study demonstrated that the self-attention deep learning framework is an effective way to diagnose ASD and establish the potential biomarkers for ASD.

2014 ◽  
Vol 2014 ◽  
pp. 1-20 ◽  
Author(s):  
C. S. Allely ◽  
C. Gillberg ◽  
P. Wilson

Background. Despite the widely-held understanding that the biological changes that lead to autism usually occur during prenatal life, there has been relatively little research into the functional development of the brain during early infancy in individuals later diagnosed with autism spectrum disorder (ASD).Objective. This review explores the studies over the last three years which have investigated differences in various brain regions in individuals with ASD or who later go on to receive a diagnosis of ASD.Methods. We used PRISMA guidelines and selected published articles reporting any neurological abnormalities in very early childhood in individuals with or later diagnosed with ASD.Results. Various brain regions are discussed including the amygdala, cerebellum, frontal cortex, and lateralised abnormalities of the temporal cortex during language processing. This review discusses studies investigating head circumference, electrophysiological markers, and interhemispheric synchronisation. All of the recent findings from the beginning of 2009 across these different aspects of defining neurological abnormalities are discussed in light of earlier findings.Conclusions. The studies across these different areas reveal the existence of atypicalities in the first year of life, well before ASD is reliably diagnosed. Cross-disciplinary approaches are essential to elucidate the pathophysiological sequence of events that lead to ASD.


2018 ◽  
Vol 17 ◽  
pp. 16-23 ◽  
Author(s):  
Anibal Sólon Heinsfeld ◽  
Alexandre Rosa Franco ◽  
R. Cameron Craddock ◽  
Augusto Buchweitz ◽  
Felipe Meneguzzi

2021 ◽  
Author(s):  
Pavithra Elumalai ◽  
Yasharth Yadav ◽  
Nitin Williams ◽  
Emil Saucan ◽  
Jürgen Jost ◽  
...  

Autism Spectrum Disorder (ASD) is a set of neurodevelopmental disorders that pose a significant global health burden. Measures from graph theory have been used to characterise ASD-related changes in resting-state fMRI functional connectivity networks (FCNs), but recently developed geometry-inspired measures have not been applied so far. In this study, we applied geometry-inspired graph Ricci curvatures to investigate ASD-related changes in resting-state fMRI FCNs. To do this, we applied Forman-Ricci and Ollivier-Ricci curvatures to compare networks of ASD and healthy controls (N = 1112) from the Autism Brain Imaging Data Exchange I (ABIDE-I) dataset. We performed these comparisons at the brain-wide level as well as at the level of individual brain regions, and further, determined the behavioral relevance of region-specific differences with Neurosynth meta-analysis decoding. We found brain-wide ASD-related differences for both Forman-Ricci and Ollivier-Ricci curvatures. For Forman-Ricci curvature, these differences were distributed across 83 of the 200 brain regions studied, and concentrated within the Default Mode, Somatomotor and Ventral Attention Network. Meta-analysis decoding identified the brain regions showing curvature differences as involved in social cognition, memory, language and movement. Notably, comparison with results from previous non-invasive stimulation (TMS/tDCS) experiments revealed that the set of brain regions showing curvature differences overlapped with the set of brain regions whose stimulation resulted in positive cognitive or behavioural outcomes in ASD patients. These results underscore the utility of geometry-inspired graph Ricci curvatures in characterising disease-related changes in ASD, and possibly, other neurodevelopmental disorders.


2021 ◽  
Vol 14 ◽  
Author(s):  
Jingjing Gao ◽  
Mingren Chen ◽  
Yuanyuan Li ◽  
Yachun Gao ◽  
Yanling Li ◽  
...  

Autism spectrum disorder (ASD) is a range of neurodevelopmental disorders with behavioral and cognitive impairment and brings huge burdens to the patients’ families and the society. To accurately identify patients with ASD from typical controls is important for early detection and early intervention. However, almost all the current existing classification methods for ASD based on structural MRI (sMRI) mainly utilize the independent local morphological features and do not consider the covariance patterns of these features between regions. In this study, by combining the convolutional neural network (CNN) and individual structural covariance network, we proposed a new framework to classify ASD patients with sMRI data from the ABIDE consortium. Moreover, gradient-weighted class activation mapping (Grad-CAM) was applied to characterize the weight of features contributing to the classification. The experimental results showed that our proposed method outperforms the currently used methods for classifying ASD patients with the ABIDE data and achieves a high classification accuracy of 71.8% across different sites. Furthermore, the discriminative features were found to be mainly located in the prefrontal cortex and cerebellum, which may be the early biomarkers for the diagnosis of ASD. Our study demonstrated that CNN is an effective tool to build the framework for the diagnosis of ASD with individual structural covariance brain network.


2020 ◽  
Author(s):  
Haishuai Wang ◽  
Paul Avillach

BACKGROUND In 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. OBJECTIVE Recent 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. METHODS After 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. RESULTS The selected contributory common variants were significantly enriched in chromosome X while chromosome Y was also discriminatory in determining the identification of autistic 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 from nonautistic individuals. Our classifier demonstrated a significant improvement over standard autism screening tools by average 13% in terms of classification accuracy. CONCLUSIONS Common 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.


2016 ◽  
Vol 234 (12) ◽  
pp. 3425-3431 ◽  
Author(s):  
Evie Malaia ◽  
Erik Bates ◽  
Benjamin Seitzman ◽  
Katherine Coppess

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