Project profile: Leveraging Routinely Collected Health Data to Improve Early Identification of Autism and Co-Occurring Conditions

Status: Active

This project comes out of Duke’s Autism Center of Excellence (ACE). The ACE’s overall goal is to use a translational digital health and computational approach to address the critical need for more effective autism screening tools, objective outcome measures, and brain-based biomarkers that can be used in clinical trials with young autistic children. This Project will develop and evaluate a novel digital health approach to autism screening. Universal autism screening is recommended for children at 18 months. This is typically achieved via a caregiver questionnaire. However, research has shown that a commonly used autism screening questionnaire has reduced accuracy when used in real-world settings, such as primary care. By leveraging health data related to early medical conditions collected as part of clinical care, we will develop an automatic, objective tool for autism prediction at 18 months that can be implemented in primary care settings. To develop the models, we are using granular EHR data from children receiving early care at Duke University Health System as well as broad administrative data from children across North Carolina on Medicaid. Through engagement with stakeholders both within and outside of DUHS, we are using the prediction model to design a clinical decision support prototype that could assist providers in making appropriate and timely referrals. Through the design process, we will identify a set of key priority factors to consider when choosing a clinical decision support for autism screening that are applicable across a broad range of stakeholders in different health care settings. Finally, our methodological team is exploring best approaches for doing large scale, time-varying prediction with health data.

Research supported by: NICHD P50HD093074

Publications:

Huang WA*, Engelhard M, Coffman M, Hill ED, Weng Q, Scheer A, Maslow G, Henao R, Dawson G, Goldstein BA. A conditional multi-label model to improve prediction of a rare outcome: An illustration predicting autism diagnosis. Journal of Biomedical Informatics, 2024, 157: 104711.

Yan, M, Xia, M, Huang, WA, Hong, C, Goldstein, BA & Engelhard, MM. “Predicting Partially Observed Long-Term Outcomes with Adversarial Positive-Unlabeled Domain Adaptation”. Presented at The Conference on Health, Inference, and Learning (CHIL). Berkeley, CA, 2025.

Sun, M., Engelhard MM, and Goldstein BA (2025). Borrowing From the Future: Enhancing Early Risk Assessment through Contrastive Learning. Proceedings of the 10th Machine Learning for Healthcare Conference, in Proceedings of Machine Learning Research

Research Team

Project Leads: Benjamin Goldstein & Gary Maslow

ACE PI: Geraldine Dawson

Co-Investigators: Matthew Engelhard, Lauren Franz, Naomi Davis, Marika Coffman

Analytic Team: Angel Huang (AI Health Fellow), Jiang Shu (MB student), Jonathan Hui (MB student), Abby Scheer