Kelly, Andrea Bridget MD

NARRATIVE A major obstacle to addressing gaps in our understanding of Down Syndrome [DS] and its related co-occurring conditions is the limited availability of a trans-disciplinary, collaborative work force with expertise and practical knowledge of working in the clinical research setting with persons with DS. This week-long in- person short course for health professional and graduate students, medical residents, post-doctoral fellows, and early-career investigators intends to foster the development of a new generation of investigators from diverse disciplines and backgrounds to pursue research in youth and adults with DS. The program will pursue a “whole- person” curriculum that considers clinical, social, legal, ethical, and research issues and perspectives related to persons with DS.

Project Narrative This study will use a large, insurance claims-electronic medical record database to estimate prevalence of multiple co-morbidities in a diverse, national population of adults with Down syndrome. In addition to diagnoses, the study will examine labs, available physical assessments, and orders used to screen for co-occurring condition in Down syndrome. This work will serve to better understand co-morbidities and screening practices in adults with Down syndrome.

While survival in individuals with Down syndrome (DS) has improved greatly, multiple co-occurring conditions jeopardize quality of life and threaten life expectancy. Limited research examining either the natural history or the underpinnings of these comorbidities is available for informing screening practices and therapeutic interventions. This proposal will study the occurrence and emergence of multiple co-morbidities as well as ethical issues and social determinants of health affecting a diverse group of infants, youth, and young adults with DS.

Consent, assent, and decision-making are regularly encountered in the clinical and research settings but can be stymied in youth and adults with Down syndrome (DS) because of their intellectual disabilities, their receptive and expressive communication differences, and their providers' and potential research partners' limited expertise in the self-efficacy arena. This national patient-centered study seeks input from a diverse group of people with DS and caregivers on the use of multi-media materials to promote understanding/ appreciation of study purpose, procedures, risks/benefits and will be complemented by discussions surrounding decision-making involvement.

Consent, assent, and decision-making are regularly encountered in the clinical and research settings but can be stymied in youth and adults with Down syndrome (DS). This supplement will add 1) two sites (Miami and San Antonio) and 2) an investigator new to research in people with DS and from a background considered under- represented in research in its efforts to conduct a national patient-centered study of a diverse group of people with DS and caregivers on the use of multi-media materials to promote understanding/appreciation of study purpose, procedures, risks/benefits and decision-making involvement.

Obstructive sleep apnea syndrome (OSAS) is common in children and adults with Down syndrome (DS). Because testing for OSAS can be inaccessible, expensive, and not well-tolerated, studying the impact of OSAS and its treatment upon learning, behavior, and heart disease risk is challenging. This study will explore how well the use of in-home testing for OSAS is tolerated by adolescents with DS and effective in diagnosing OSAS.