Project Summary

Background: A diverse range of perspectives is necessary for co-producing research related to heterogeneous conditions like autism, intellectual and/or developmental disabilities (IDD). Understanding the mechanisms underlying variable expressivity of core behavioral symptoms, responsiveness to particular treatments, and non-behavioral problems is a critical step toward informing personalized approaches to treatment for these complex conditions. The substantial investments made by the research community and participating patients in developing data repositories that archive de-identified clinical and research data, provides an unprecedented opportunity to leverage these resources for conducting PCOR. However, such resources have not been built for this purpose and, thus, harnessing data from existing repositories to conduct PCOR/CER can pose significant challenges that require strategic scaffolding to integrate the knowledge and perspectives, not only from multiple scientific silos, but also from the populations impacted by mental health conditions. 

During the course of the team’s completed and ongoing PCORI funded engagement works, [i.e., autism genetics and outcomes (AutGO) project and Midwest Patient-Centered Autism Research Consortium (MARC)],  feedback was received  from a wide range of stakeholders voicing the need to build capacity to facilitate formulating PCOR projects for autism and IDD by leveraging the existing de-identified data repositories. The proposed project was developed by incorporating such perspectives. Furthermore, as previously reported (Talebizadeh et. al 2018 & 2020), one of the main reasons why this promising potential has been overlooked is the lack of interactions between basic and outcomes researchers. This barrier could be addressed by developing practical engagement protocol(s) to serve as a roadmap to promote synergistic relationships among different disciplines.

Proposed Solution to the Problem:  The present project, will assess select resources pertaining to autism and IDD, including CDC-funded resources [Autism and Developmental Disabilities Monitoring (ADDM) Network and Study to Explore Early Development (SEED)], ACMG-Newborn Screening Translational Research Network (NBSTRN) tools/resources, as well as unique resources provided by autism foundations, such as MSSNG and Simons Foundation Powering Autism Research (SPARK). The overall goal is to identify barriers, facilitators, and motivators pertaining to both disciplines (basic research and health outcomes), which need to be understood to facilitate building sustained data science capacity for conducting PCOR/CER in autism and IDD.

1) Form a Ds-PCOR-Aut/IDD advisory board (AB). 
2) Establish partnership between the Ds-PCOR-Aut/IDD AB and the MARC advisory board. 
3) Assess existing repositories, from the PCOR standpoints, for utility of data science in autism/IDD. 
4) Conduct literature review to identify potential PCOR examples from mental health and/or other conditions that could serve as prototype(s) for the present project. 
5) Identify barriers, facilitators, motivators, opportunities, and challenges for conducting PCOR/CER in autism/IDD using data science approaches. 
6) Convene a regional conference to disseminate findings/recommendations. 
7) Develop a roadmap for Ds-PCOR-Aut/IDD to be shared with the research community.

Activities: Developing and adopting a governance document, recruiting stakeholders to serve on the Ds-PCOR-Aut/IDD AB, conducting project orientation for team members, conducting community mapping, collecting feedback, developing an evaluation matrix, developing introductory webinar(s), identifying barriers/facilitators/motivators, and disseminating results.

Projected Outputs: 
1) Educational modules
2) Roadmap
3) List of recommendations for the research community.

Patient and Stakeholder Engagement Plan: Patients/stakeholders have been engaged in the supporting activities (AutGO and MARC) and contributed to the workplan preparation. They will remain involved in the continued planning and execution of this project by providing feedback to guide or improve the development of the roadmap, participating/presenting at the Ds-PCOR-Aut/IDD convening event, and contributing to community mapping and dissemination of findings with stakeholders and wider audiences.

Project Collaborators: Project collaborators include the Children’s Mercy Research Institute, University of Kansas Medical Center, Washington University in St. Louis, and patient/community stakeholders.

Project Information

Zohreh Talebizadeh, PhD
American College of Medical Genetics and Genomics

Key Dates

25 months


Project Status
State State The state where the project originates, or where the primary institution or organization is located. View Glossary
Last updated: January 20, 2023