Advancing the Lives & HeaLth of Youth and Young Adults with Down Syndrome (ALLY-DS)

PROJECT SUMMARY

Endocrinopathies, sleep disorders, cognitive issues, cardiovascular conditions, sensory impairments, and ability

differences not only impact the quality of life of individuals with Down syndrome (DS) and their caregivers but

can intersect to magnify the threats of these co-occurring conditions. Moreover, individuals with intellectual

disabilities face additional barriers surrounding healthcare access and their decision-making involvement that

can jeopardize their health. The dearth of observational studies that richly detail co-occurring conditions, social

determinants of health (SDoH), and the ableism individuals with DS experience represents a major challenge to

providing clinical care to individuals with DS. Our long-term objective is to partner with clinicians, researchers,

individuals with DS, and caregivers across the country to establish a diverse cohort of individuals with DS for

comprehensive longitudinal phenotyping including multi-omics and to develop an infrastructure for intervention

studies. This multi-center, multi-disciplinary collaborative team will engage individuals from infancy through

young adulthood to undergo blood sample collection, imaging studies, qualitative interviews, questionnaire

completion, sleep assessments, and remote physiologic monitoring while subsets will undergo additional specific

procedures with the goal of rich longitudinal phenotyping across multiple systems:

Endocrine: thyroid and gonadal function

Cardiometabolic: lipids, inflammation, meal-related glucose excursion, insulin secretion & sensitivity

Cardiovascular: blood pressure, arterial stiffness, and left ventricular mass and function

Nutrition: anthropometrics, body composition, bone density, nutritional intake, and appetite/satiety

Sleep: obstructive and central sleep apnea, hypoventilation, participant and caregiver sleep quantity and quality

Physical Activity: sedentary, light, moderate, and vigorous activity

Neurocognitive: caregiver reported and objectively assessed measures, peripheral blood Alzheimer disease

markers, audiology, brain MRI, secondary analyses of sleep study EEG

SDoH: family education, income, English proficiency, medical literacy, neighborhood characteristics

Ethical Issues: decision-making involvement, experiences with ableism, and healthcare access

Electronic Health Information: diagnoses, medications, procedures, labs, and imaging

Multi-omics: genome, transcriptome, proteome, metabolome

Procedures will be repeated at a cadence that depends upon baseline age (15-30y,

every 24-30 mo), baseline results, pre-existing co-morbidities, and subsequent interventions. Community

members will help inform study design and the specific procedures to be undertaken will be tailored to the abilities

of individuals with DS and to minimize participant and caregiver burden.