Graduation Year

2026

Document Type

Dissertation

Degree

Ph.D.

Degree Name

Doctor of Philosophy (Ph.D.)

Degree Granting Department

Community and Family Health

Major Professor

Russell S. Kirby, Ph.D., MS, FACE

Committee Member

Jennifer Marshall, Ph.D., MPH, CPH

Committee Member

Jason L. Salemi, Ph.D., MPH, FACE

Committee Member

Emily Shaffer-Hudkins, Ph.D.

Keywords

Caregiver, Down Syndrome, Transition to adult care

Abstract

Background: Health care transition (HCT) preparation is a structured process that empowers youth to take ownership of their health care as they transition into adulthood. Youth with Down syndrome (DS), a common genetic disorder associated with a high burden of co-occurring conditions, require HCT preparation support at a higher rate than their typically developing peers. Although transition preparation has been examined across various chronic conditions, few studies have focused on youth with DS. Moreover, prior research was limited by methodological constraints, including the lack of a validated HCT index, a small sample size, outdated estimates, and a lack of a conceptual framework aligned with national guidelines. Additionally, there are knowledge gaps regarding caregivers’ challenges and expectations during the transition process.

Objective: The overall objective of this dissertation was to assess the extent to which youth with DS receive transition preparation support by developing a validated HCT index, using the index to assess transition preparation support, and exploring caregivers’ challenges and expectations as they navigate the transition process.

Methods: The study followed a convergence mixed-methods design, integrating both quantitative and qualitative approaches. The quantitative components utilized the pooled 2018-2024 National Survey of Children’s Health dataset to develop the HCT index and assess transition preparation support. Analyses included U.S. youth aged 12-17 years with DS as the target population, while youth with intellectual disability and without other special health care needs were used as comparators. The main analytical approach used to develop the index was confirmatory factor analysis, whereas examination of transition preparation status was assessed using multiple linear regression. For the qualitative component, data were collected from purposively selected primary caregivers through semi-structured interviews. Using an applied thematic approach, interview data were systematically analyzed to identify common patterns, providing deeper insights into their HCT knowledge, practice, challenges, and recommendations.

Results: With a possible score of 0-8 (higher score indicating greater preparedness), the HCT index aligned with Got Transitions’ Six Core Elements demonstrated acceptable internal consistency and strong construct validity. Youth with DS reported receiving less HCT support from providers than typically developing youth (β = -0.63, 95% CI = -1.12, -0.15). Their level of transition preparation was associated with age, race/ethnicity, family income, provider type, and insurance adequacy. Transition support from caregivers was reactive and insufficiently supported by the health care system. They often faced informational, structural, attitudinal, developmental, and financial challenges. Caregivers recommended timely, structured transition discussions, accessible educational resources, a proactive caregiver role, and improved financial and insurance support.

Conclusion: This study provides a comprehensive view of youth with DS receiving transition preparation support from health providers and caregivers, and it offers recommendations for improvement. Findings are useful for improving clinical practices, shaping policy decisions, and catalyzing future research initiatives focused on youth with DS and related health conditions.

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