Autism spectrum disorder is a neuro-developmental disorder that affects the social abilities of the patients. Yet, the gold standard of autism diagnosis is the autism diagnostic observation schedule (ADOS). In this study, we are implementing a computer-aided diagnosis system that utilizes structural MRI (sMRI) and resting-state functional MRI (fMRI) to demonstrate that both anatomical abnormalities and functional connectivity abnormalities have high prediction ability of autism. The proposed system studies how the anatomical and functional connectivity metrics provide an overall diagnosis of whether the subject is autistic or not and are correlated with ADOS scores. The system provides a personalized report per subject to show what areas are more affected by autism-related impairment. Our system achieved accuracies of 75% when using fMRI data only, 79% when using sMRI data only, and 81% when fusing both together. Such a system achieves an important next step towards delineating the neurocircuits responsible for the autism diagnosis and hence may provide better options for physicians in devising personalized treatment plans.

Autism spectrum disorder (ASD) is a combination of developmental anomalies that causes social and behavioral impairments, affecting around 2% of US children. Common symptoms include difficulties in communications, interactions, and behavioral disabilities. The onset of symptoms can start in early childhood, yet repeated visits to a pediatric specialist are needed before reaching a diagnosis. Still, this diagnosis is usually subjective, and scores can vary from one specialist to another. Previous literature suggests differences in brain development, environmental, and/or genetic factors play a role in developing autism, yet scientists still do not know exactly the pathology of this disorder. Currently, the gold standard diagnosis of ASD is a set of diagnostic evaluations, such as the Autism Diagnostic Observation Schedule (ADOS) or Autism Diagnostic Interview–Revised (ADI-R) report. These gold standard diagnostic instruments are an intensive, lengthy, and subjective process that involves a set of behavioral and communications tests and clinical history information conducted by a team of qualified clinicians. Emerging advancements in neuroimaging and machine learning techniques can provide a fast and objective alternative to conventional repetitive observational assessments. This paper provides a thorough study of implementing feature engineering tools to find discriminant insights from brain imaging of white matter connectivity and using a machine learning framework for an accurate classification of autistic individuals. This work highlights important findings of impacted brain areas that contribute to an autism diagnosis and presents promising accuracy results. We verified our proposed framework on a large publicly available DTI dataset of 225 subjects from the Autism Brain Imaging Data Exchange-II (ABIDE-II) initiative, achieving a high global balanced accuracy over the 5 sites of up to 99% with 5-fold cross validation. The data used was slightly unbalanced, including 125 autistic subjects and 100 typically developed (TD) ones. The achieved balanced accuracy of the proposed technique is the highest in the literature, which elucidates the importance of feature engineering steps involved in extracting useful knowledge and the promising potentials of adopting neuroimaging for the diagnosis of autism.

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This study proposes a Computer-Aided Diagnostic (CAD) system to diagnose subjects with autism spectrum disorder (ASD). The CAD system identifies morphological anomalies within the brain regions of ASD subjects. Cortical features are scored according to their contribution in diagnosing a subject to be ASD or typically developed (TD) based on a trained machine-learning (ML) model. This approach opens the hope for developing a new CAD system for early personalized diagnosis of ASD. We propose a framework to extract the cerebral cortex from structural MRI as well as identifying the altered areas in the cerebral cortex. This framework consists of the following five main steps: (i) extraction of cerebral cortex from structural MRI; (ii) cortical parcellation to a standard atlas; (iii) identifying ASD associated cortical markers; (iv) adjusting feature values according to sex and age; (v) building tailored neuro-atlases to identify ASD; and (vi) artificial neural networks (NN) are trained to classify ASD. The system is tested on the Autism Brain Imaging Data Exchange (ABIDE I) sites achieving an average balanced accuracy score of 97±2%. This paper demonstrates the ability to develop an objective CAD system using structure MRI and tailored neuro-atlases describing specific developmental patterns of the brain in autism.

In addition to the standard observational assessment for autism spectrum disorder (ASD), recent advancements in neuroimaging and machine learning (ML) suggest a rapid and objective alternative using brain imaging. This work presents a pipelined framework, using functional magnetic resonance imaging (fMRI) that allows not only an accurate ASD diagnosis but also the identification of the brain regions contributing to the diagnosis decision. The proposed framework includes several processing stages: preprocessing, brain parcellation, feature representation, feature selection, and ML classification. For feature representation, the proposed framework uses both a conventional feature representation and a novel dynamic connectivity representation to assist in the accurate classification of an autistic individual. Based on a large publicly available dataset, this extensive research highlights different decisions along the proposed pipeline and their impact on diagnostic accuracy. A large publicly available dataset of 884 subjects from the Autism Brain Imaging Data Exchange I (ABIDE-I) initiative is used to validate our proposed framework, achieving a global balanced accuracy of 98.8% with five-fold cross-validation and proving the potential of the proposed feature representation. As a result of this comprehensive study, we achieve state-of-the-art accuracy, confirming the benefits of the proposed feature representation and feature engineering in extracting useful information as well as the potential benefits of utilizing ML and neuroimaging in the diagnosis and understanding of autism.

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Autism Spectrum Disorder (ASD), commonly known as autism, is a lifelong developmental disorder associated with a broad range of symptoms including difficulties in social interaction, communication skills, and restricted and repetitive behaviors. In autism, numerous studies suggest abnormal development of neural networks that manifest itself as abnormalities of brain shape, functionality, and/ or connectivity. The aim of this work is to present our automated computer aided diagnostic (CAD) system for accurate identification of autism based on the connectivity of the white matter (WM) tracts. To achieve this goal, two levels of analysis are provided for local and global scores using diffusion tensor imaging (DTI) data. A local analysis using Johns Hopkins WM areas' atlas is exploited for DTI atlas-based segmentation. Furthermore, WM integrity is examined by extracting the most notable features representing WM connectivity from DTI. Interactions of WM features between different areas in the brain, demonstrating correlations between WM areas were used, and feature selection among those associations were made. Finally, a LOSO classifier is employed to yield a final per-subject decision. The proposed system was tested on a large dataset of 263 subjects from NDAR database with their Autism Diagnostic Observation Schedule (ADOS) scores and diagnosis (141 typically developed: 66 males, and 75 females, and 122 autistics: 66 males, and 56 females), with ages ranging from 96 to 215 months, achieving an overall accuracy of 73%. In addition to this achieved global accuracy, diagnostically-important brain areas were identified, allowing for a better understanding of ASD-related brain abnormalities, which is considered as an essential step towards developing early personalized treatment plans for children with autism.