# Down Syndrome: Toward Optimal Trajectories and Health Equity using Medicaid Analytic eXtract (DS -TO-THE-MAX)

> **NIH NIH R01** · BOSTON UNIVERSITY MEDICAL CAMPUS · 2021 · $1,743,481

## Abstract

PROJECT ABSTRACT
Down syndrome (DS), 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 DS, 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 DS 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 DS. The triplication of chromosome 21 in DS 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 DS 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 DS samples are often under powered and often
lack participants of color. 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 will identify a
retrospective longitudinal cohort of >100,000 adults with DS and >4,000,000 adults without DS from 10
years of Medicaid Analytic eXtract data plus additional Medicare data for dual enrollees. Our innovation
lies in a DS sample orders of magnitude larger than past work, a social determinants of health
framework, and novel machine learning and quantitative bias analysis methods. We will complete 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. The results of this project will strengthen the epidemiologic and public health basis for DS
research and population level intervention. In building the DS-TO THE MAX cohort and assessing risk,
resilience, social determinants we will have a vital big data set to complement clinical research and
work toward the population with DS living long, healthy, and self-determined liv...

## Key facts

- **NIH application ID:** 10274393
- **Project number:** 1R01AG073179-01
- **Recipient organization:** BOSTON UNIVERSITY MEDICAL CAMPUS
- **Principal Investigator:** Eric S Rubenstein
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $1,743,481
- **Award type:** 1
- **Project period:** 2021-09-30 → 2024-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10274393

## Citation

> US National Institutes of Health, RePORTER application 10274393, Down Syndrome: Toward Optimal Trajectories and Health Equity using Medicaid Analytic eXtract (DS -TO-THE-MAX) (1R01AG073179-01). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10274393. Licensed CC0.

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