Health Information Technology to Support Autism Spectrum Disorders (ASD) Risk Assessment for Early Diagnosis

Project Summary / Abstract Autism spectrum disorder (ASD) is a developmental disorder that affects 1 in 54 children in the US (1). The economic cost of ASD is estimated to be $66 billion per year in the US, from medical care and lost parental productivity (2). Early diagnosis is crucial since it allows for early treatment and the best long-term outcome.

However, identifying children at high risk for ASD at an early age is challenging due to lack of specialists. To address this problem, the project's objective is to create health information technology (HIT) using information in electronic health records (EHR) to support non-expert clinicians in identifying children at high risk for ASD.

The HIT will integrate two components that provide complementary information. The first component will leverage machine learning algorithms to label EHR of children at high risk for autism. Both traditional and deep learning, potentially leveraging each other, will be evaluated while systematically tracking quality and quantity

of information in EHR and their effect on performance. The second component will focus on the EHR free text and identify phenotypic behavioral expressions of diagnostic criteria as defined in the Diagnostic and Statistical Manual of Mental Disorders (DSM). Rule-based natural language processing will be combined with machine

learning algorithms. For both components, potential algorithm bias will be investigated and corrected or documented when this is not possible. The HIT will combine results from both components through an intuitive user interface. Since it is intended to be used as a human-in-the loop decision tool, it will also provide

descriptive data on performance for both components. The final HIT will be developed using rapid prototyping in interaction with domain experts. It will be evaluated in a user study with representative non-expert clinicians. The evaluation will compare accuracy, confidence, and efficiency of identifying children at risk for ASD with

and without the HIT by non-ASD experts. It will also systematically focus on the type, amount, quality and transparency of information provided, and how this interacts with user beliefs about their own expertise as well as their bias toward machine decisions. Different types of EHR as well as different levels of clinical expertise

will be compared for effects of HIT use. Preliminary work has been conducted for all components with good results. However, this prior work focused on version IV of the DSM and used only free text from data rich EHR. The proposed project will expand the prior work to use DSM-5 criteria, train and develop the algorithms to use structured and unstructured fields in

clinical, representative EHR, and work with EHR from different hospitals to evaluate potential obstacles and advantages of variability in data. Using information in EHR, this HIT will provide support especially for non-expert clinicians in their evaluation of children who may be at risk of ASD. The HIT will support early referrals leading to early diagnosis and therapy.

It will be useful in a variety of different settings where domain expertise is missing.