Down syndrome care continues to show important gaps in preventive services for adults, according to a 2026 mixed-methods study conducted in Connecticut. Researchers reviewing Hartford HealthCare records found that only 2.1% of 241 adults with Down syndrome met the study’s wellness-visit benchmark, while 30.7% met its benchmark for the average interval between thyroid tests. Caregiver feedback and physician surveys also pointed to limited condition-specific training, access barriers and insufficient support beyond individual medical visits.
The findings reinforce a broader challenge in primary care: preventive guidelines can only improve outcomes when clinicians know about them, patients can access appropriate services and health systems create reliable pathways for follow-up.
Down Syndrome Care Shows Preventive Gaps
Researchers examined the health records of adults aged 18 to 60 who received primary care within Hartford HealthCare between 2017 and 2022. They combined the chart review with a caregiver focus group and a survey of primary care clinicians.
The medical-record analysis showed inconsistent use of preventive services. Across the six-year study period, the median number of wellness visits was one, compared with the study benchmark of six. The median number of thyroid function tests was two. Among patients with sufficient longitudinal information, the interval between wellness visits was about 1.2 years, while thyroid testing occurred more regularly.
Down Syndrome Care Needs Consistent Follow-Up
Adults with Down syndrome can have health needs that require additional attention alongside routine primary care.
Evidence-based adult guidelines address areas including thyroid disease, diabetes, obesity, dementia, cardiovascular health, osteoporosis and celiac disease. Current Global Down Syndrome Foundation guidance, for example, recommends thyroid-stimulating hormone screening every one to two years beginning at age 21.
The objective is not simply to order more tests. Preventive care should identify relevant health risks early and create a clear plan for monitoring, treatment or referral.
Caregivers Highlight Healthcare Access Barriers
Medical records alone cannot explain why preventive services are missed.
Caregivers participating in the Connecticut study described difficulty accessing appropriate care and finding healthcare professionals with sufficient knowledge of Down syndrome. They also identified challenges maintaining health and wellness between medical appointments.
Communication was another concern. Healthcare professionals need to communicate directly and respectfully with adults with Down syndrome while appropriately involving caregivers or support persons.
Special Olympics’ inclusive health resources similarly emphasize speaking directly to patients, using understandable language and strengthening provider competency when caring for people with intellectual and developmental disabilities.
Down Syndrome Care Extends Beyond Appointments
Preventive care does not end when a patient leaves the clinic.
Patients and families may need assistance understanding screening recommendations, arranging referrals, following medication plans and supporting nutrition, physical activity or other health goals.
Health systems can improve continuity by providing accessible educational materials, follow-up reminders and clearly identified contacts for patients or caregivers who need additional help.
The CDC’s disability health programs similarly emphasize connecting adults with intellectual and developmental disabilities to preventive healthcare and health-promotion services while improving provider training.
Primary Care Training Remains Limited
The Connecticut physician survey revealed a significant preparedness gap.
Of the 81 clinicians who responded, 82% said they had provided care to an adult with Down syndrome. Yet 65% said they did not feel adequately prepared for that responsibility. Only 27% reported adequate training, and just 11% had received education that specifically included Down syndrome.
More than half of respondents were also unaware of the thyroid-testing recommendation evaluated by the researchers.
These findings suggest that lack of clinician knowledge may contribute to inconsistent preventive services even when patients already have access to primary care.
Down Syndrome Care Needs Better Resources
Clinicians themselves identified possible solutions.
Fifty-seven percent wanted more education on health disparities and medical issues affecting people with Down syndrome. The same percentage said access to a list of providers with relevant expertise would be useful, while 51% wanted improved training resources.
Nearly seven in 10 also reported not knowing whom to contact within their organization when they needed additional Down syndrome resources.
Health systems could address these gaps through continuing medical education, EHR-based preventive reminders, clinical checklists, referral pathways and easy access to evidence-based guidance.
Inclusive Primary Care Can Improve Prevention
Provider education should be accompanied by broader changes in care delivery.
Adults with intellectual and developmental disabilities can face barriers involving communication, accessibility and preventive healthcare. CDC guidance encourages healthcare professionals to use effective communication and appropriate accommodations to make routine healthcare more inclusive.
Special Olympics also provides primary care resources focused on health screening, immunization, medication review and adapted approaches to care for adults with intellectual and developmental disabilities.
These strategies can help make preventive care part of mainstream healthcare rather than requiring patients and families to continuously search for specialized services.
Study Limitations Require Careful Interpretation
The findings should not be interpreted as representing every adult with Down syndrome in Connecticut or across the United States.
The chart review involved one healthcare system and covered care delivered between 2017 and 2022. The caregiver focus group was small and had limited demographic diversity, while the physician survey response rate was 18%.
Those limitations mean further research is needed across larger and more diverse health systems.
Still, the study brings together medical records, caregiver experiences and provider perspectives that point toward the same broad issue: preventive recommendations do not consistently translate into preventive care.
Down Syndrome Care Needs Targeted Improvement
Improving preventive healthcare for adults with Down syndrome does not require separating them from mainstream primary care. It requires primary care systems that recognize condition-specific risks while delivering respectful, individualized treatment.
Better clinician training, structured screening reminders, accessible resources, stronger caregiver support and clearer referral pathways could help close existing gaps.
The Connecticut research demonstrates that publishing healthcare guidelines is only the first step. Meaningful Down syndrome care depends on converting those recommendations into reliable, person-centered preventive services that adults can access throughout their lives.
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