Abstract

Autism spectrum disorder (ASD) is a neuro-developmental disorder associated with social impairments, communication difficulties, and restricted and repetitive behaviors. Yet, there is no confirmed cause identified for ASD. Studying the functional connectivity of the brain is an emerging technique used in diagnosing and understanding ASD. In this study, we obtained the resting state functional MRI data of 283 subjects from the National Database of Autism Research (NDAR). An automated autism diagnosis system was built using the data from NDAR. The proposed system is machine learning based. Power spectral densities (PSDs) of time courses corresponding to the spatial activation areas are used as input features, feeds them to a stacked autoencoder then builds a classifier using probabilistic support vector machines. Over the used dataset, around 90% of sensitivity, specificity and accuracy was achieved by our machine learning system. Moreover, the system generalization ability was checked over two different prevalence values, one for the general population and the other for the of high risk population, and the system proved to be very generalizable, especially among the population of high risk. The proposed system generates a full personalized report for each subject, along with identifying the global differences between ASD and typically developed (TD) subjects and its ability to diagnose autism. It shows the impacted areas and the severity of implications. From the clinical aspect, this report is considered very valuable as it helps in both predicting and understanding behavior of autistic subjects. Moreover, it helps in designing a plan for personalized treatment per each individual subject. The proposed work is taking a step towards achieving personalized medicine in autism which is the ultimate goal of our group’s research efforts in this area.

Highlights

  • Imaging data hosted by National Database for Autism Research (NDAR) are fully anonymized and linked with other records via an opaque identifier, the NDAR globally unique identifier (GUID)

  • Autism spectrum disorder (ASD) and typically developed (TD) subgroups were well-matched with respect to gender and age

  • Over the last few years, remarkable progress in MRI research has allowed the prospective identification of infants with ASD at 24 months based on structural MRI or functional MRI (fMRI) features [59]

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Summary

Methods

Data descriptionIn this study, we obtained fMRI data for 123 ASD and 160 TD children and adolescents (for a total number of 283 subjects) from the National Database for Autism Research (NDAR: http:// ndar.nih.gov). In addition to the imaging data, many subjects have (i) cognitive/behavioral data in the form of BRIEF-parent (100 autistic and 140 healthy controls), (ii) child/adolescent symptom inventory (CASI) (67 autistic and 110 healthy controls), (iii) child behavior checklist (CBCL) for ages 6–18 (116 autistic and 160 healthy controls), and (iv) differential ability scales 2nd edition (DAS-II) (105 autistic and 148 healthy controls). Those with a diagnosis of ASD usually had associated scores on the (v) ADOS reports (96 autistic) and (vi) Autism diagnostic interview (ADI-R) (117 autistic). Time to acquire 34 coronal slices spanning the entire brain was 3.01 s, and the resting state data were recorded for approximately 6 minutes

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