Linking CTSA and IDDRC resources to support Down Syndrome DS-CONNECT

This proposal seeks to support and enhance Down Syndrome research capabilities via the DS-CONNECT by leveraging PCORnet, the National Patient-Centered Clinical Research Network ( Since 2014, the Patient-Centered Research Institute’s investment in creating PCORnet has resulted in a diverse national network covering over 100 million lives: providing curated, electronic health record data and claims as real world evidence (RWE) along with heightened patient/clinician/health system engagement across participating organizations. There is a tremendous opportunity to strengthen prospective and observational Down Syndrome research by linking PCORnet to existing and emerging Down Syndrome resources such as the DS-CONNECT registry ( We propose linking PCORnet to DS-CONNECT and test capability in three dimensions: 1) increasing DS-CONNECT registry enrollment, 2) systematic extraction of clinical observations, treatments, and outcomes from PCORnet for DS-CONNECT patients, and 3) conducting cognitive assessment via DS-CONNECT in the PCORnet population.

Cognitive Assessment and Self-Determination: People with Down Syndrome and intellectual and developmental disabilities (DS/IDD) experience poorer health-related quality of life (HRQOL) than people without a disability. Researchers acknowledge that complex and interactive factors lead to differential HRQOL outcomes, however research that systematically examines social and personal determinants and their interactive and longitudinal relationship with HRQOL in people with DS/IDD is limited. For people with DS/IDD, person factors, such as communication ability and social skills can also impact health in terms of access to quality health care, opportunities for social participation, and challenging behavior. Self-determination (, which is defined as people with disabilities engaging in goal-directed actions that enhance quality of life has been shown to be a critical factor in improving employment and HRQOL outcomes. Specifically, the relationship between sleep quality and cognition may play a significant role in community living and employment for adults with Down Syndrome. We will invite PCORnet DS-CONNECT participants to complete the Self-Determination Inventory (SDI) and link SDI scoring of problem solving and goal setting cognitive deficits for Down Syndrome patients with Obstructive Sleep Apnea (OSA) diagnoses recorded the PCORnet Common Data Model.

Aim 1: Establish patient integration/linkage and clinician/patient engagement between PCORnet and DS-CONNECT to recruit individuals within PCORnet to join the DS-CONNECT registry. This would be conducted broadly across general (e.g. Kansas) and pediatric (e.g. Philadelphia) health systems and span IDDRC and non-IDDRC institutions.

Aim 2: Extract/link PCORnet Common Data Model (CDM) real world evidence for DS-CONNECT registry participants focused on measures, diagnoses, and treatments for obstructive sleep apnea but encompassing common comorbidities of interest to the Down Syndrome research community. 

Aim 3: Integrate the Self-Deterimination Inventory (SDI) with DS-CONNECT and invite registry participants in PCORnet to complete the SDI; prepare integrated dataset and explore associations between SDI cognitive components, measures of community participation from DS-CONNECT, and sleep apnea and other health data from the PCORnet CDM.

This will be one of the first studies to robustly integrate data regarding the relationships between health and community participation for people with DS, which is made possible linking health data from registry participants in PCORnet using DS-CONNECT and the Self-Determination Inventory (SDI) System Data Dashboard. If we can establish these linkages and develop a protocol for such work, multiple additional studies could be conceptualized to create integrated dataset for analyses of associations between multiple outcomes for those with DS particularly in adulthood and in the transition to adulthood where data is extremely limited. As such, our proposed research will have far reaching implications for supports and services for people with DS. Namely, we will better understand the influence of health on participation. Additionally, the addition of self-determination will help researchers better tailor interventions to support specific aspects of cognition that interfere with health and participation outcomes and create a framework for exploring other associations by integrating data to inform intervention development and future clinical trials.