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Down Syndrome: Toward Optimal Trajectories and Health Equity using Medicaid Analytic eXtract

Funding: National Institutes on Aging, R01AG073179-01, R01AG073179-S1, PI: Rubenstein

Down syndrome , a trisomy of chromosome 21 and the most common genetic cause of intellectual disability, was once a condition in which children would rarely see adulthood. In 1950, the estimated mean life expectancy for a person with DS was 26 years and median age at death was 4 years. With improvements in recognition and treatment of co-occurring conditions of Down syndrome, such as congenital heart defects, the estimated median life expectancy in 2010 was 53 years (median age at death was 58). There is now a large and diverse population with Down syndrome across all ages who are in dire need of solutions and treatments for medical issues that were inconceivable 60 years ago.

Two conditions of high interest that often presage other morbidity, greatly harm quality of life, and lead to premature mortality are obstructive sleep apnea (OSA) and dementia. OSA is an episodic sleep-state collapse of the upper airway which results in reduction or lack of ventilation during sleep and is prevalent in more than half of people with Down syndrome. The triplication of chromosome 21 in Down syndrome is associated with an overproduction of the amyloid precursor protein and is pivotal to the accelerated development of dementia and Alzheimer’s disease. Even when not the proximal cause of death, in post-mortem autopsy nearly all older adults with Down syndrome have beta amyloid plaques and neurofibrillary tangles that signify Alzheimer’s disease. More needs to be known about causes, course, and the impact of social determinants on these conditions and resulting premature mortality, especially as clinical Down syndrome samples are often under powered and often lack participants from minoritized populations.

To meet the directives of the National Institutes of Health’s Investigation of Co-occurring conditions across the lifespan in Down syndrome project and the National Institute on Aging’s priorities we propose to create Down Syndrome: Towards Optimal Trajectories and Health Equity using Medicaid Analytic eXtract (DS-TO-THE-MAX). DS-TO-THE-MAX has identified a retrospective longitudinal cohort of >120,000 adults with DS and >4,000,000 adults without DS from 9 years of Medicaid data plus additional Medicare data for dual enrollees. Our innovation lies in a DS sample order of magnitude larger than past work, a social determinants of health framework, and novel machine learning and quantitative bias analysis methods. We are in the process of completing two aims: 1) Assess epidemiology and social determinants of obstructive sleep apnea, dementia, and mortality 2) Use machine learning to identify risk algorithms for obstructive sleep apnea, dementia, and mortality.

DS-TO-THE-MAX NIH Description


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Co-Research Team  


We have a team of co-researchers helping us create materials to disseminate and to co-lead research projects. The team is comprised of 6 adults with Down syndrome from across the US. Co-researchers use their knowledge to engage with the research process, explore health questions of concern to the Down syndrome community, and provide feedback on study materials and findings. We meet bimonthly on Zoom, and co-research team members receive honoraria for their time. The grant will last from 2022-2025. We aim to continue the co-research group over that period. 

The co-researchers are interested in learning about the mental health of people with Down syndrome. Since July 2022, the team has worked to learn about mental health and create a survey to ask others with Down syndrome about their experiences. 

Learn more about our survey here!