14 evidence-based guidelines detail recommended care in key clinical areas

Recommendations from a new, evidence-based, clinical guideline published in JAMA offer support and guidance to clinicians in the primary care of adults with Down syndrome.

Over the past few decades, the average life expectancies of adults with Down syndrome have increased, from 25 years in 1983 to 60 years in 2020. However, there are currently no clinical guidelines for the care of these adults, despite the many unique clinical comorbidities they present.

“Because individuals with Down syndrome are living longer, guidance is needed to support high-quality care. Although guidelines based on expert opinion exist, evidence-based clinical practice guidelines (CPGs) for adults with Down syndrome have not been developed. This Special Communication presents a clinical guideline with recommendations to support high-quality primary care for adults with Down syndrome,” wrote Amy Y. Tsou, MD, MSc, of the ECRI Center for Clinical Excellence and Guidelines, Plymouth Meeting, Pennsylvania, and colleagues.

Tsou and colleagues conducted this systematic literature review to help develop an evidence-based clinical practice guideline for adults with Down syndrome, using questions developed by the Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome Workgroup.

Upon identifying and reviewing 22 relevant studies, they concluded that only one strong recommendation could be made: that screening for Alzheimer-type dementia should be initiated at age 40 years in adults with Down syndrome. Tsou et al also identified four recommendations that agreed with existing guidance, which included managing risk factors for cardiovascular disease, managing risk factors for stroke prevention, screening for obesity, and evaluating for secondary causes of osteoporosis. Finally, two recommendations for diabetes screening entailed earlier screening at shorter intervals due to the high prevalence and earlier onset of diabetes in these adults.

In all, they developed 14 evidence-based recommendations for clinicians for the primary care of adults with Down syndrome:

1. Refer adults with Down syndrome in whom there is a suspicion of a mental health disorder to a clinician familiar with treating these disorders in this specific population.

2. Follow diagnostic guidelines in the “Diagnostic and Statistical Manual of Mental Disorders (Fifth Edition; DSM-5)” in adults with Down syndrome with a possible mental health disorder. To adapt these criteria, clinicians may also use the “Diagnostic Manual-Intellectual Disability 2: A Textbook of Diagnosis of Mental Disorders in Persons with Intellectual Disability (DM-ID-2).”

3. Be cautious in diagnosing age-related, Alzheimer-type dementia in adults with Down syndrome who are younger than 40 years due to its low prevalence before this age.

4. Annually assess changes from baseline function beginning at 40 years of age, including interviews with primary caregivers.

5. Screen for type 2 diabetes in asymptomatic adults with Down syndrome beginning at age 30 years with glycated hemoglobin or fasting plasma glucose levels every 3 years.

6. Screen adults with Down syndrome with obesity for type 2 diabetes every 2 to 3 years beginning at age 21 years.

7. Assess the need for statin therapy every 5 years beginning at age 40 years in adults with Down syndrome with no history of atherosclerotic cardiovascular disease, using a 10-year risk calculator recommended by the USPSTF for this population.

8. Manage risk factors for stroke in these patients as outlined by the American Heart Association/American Stroke Association Guidelines for the Primary Prevention of Stroke.

9. Conduct periodic cardiac evaluations and have a cardiologist review corresponding monitoring plans in adults with Down syndrome who have a history of congenital heart disease.

10. Monitor changes in weight and obesity via BMI calculations annually in adults with Down syndrome and follow recommendations from the USPSTF for behavioral weight loss interventions to prevent obesity-related morbidity and mortality.

11. Do not use routine cervical spine radiographs to screen for risk of spinal cord injury in asymptomatic adults with Down syndrome; instead review signs and symptoms of cervical myelopathy with a targeted history taking and physical exam.

12. Take a shared decision-making approach for the primary prevention of osteoporotic fractures, because there is insufficient evidence supporting the use of established osteoporosis screening guidelines.

13. Assess all secondary causes of osteoporosis in adults with Down syndrome with a fragility fracture, including screening for hyperthyroidism, celiac disease, vitamin D deficiency, hyperparathyroidism, and medications that may have deleterious effects on bone health.

14. Screen adults with Down syndrome for hypothyroidism every 1 to 2 years beginning at age 21 years, using serum thyrotropin testing.

Tsou and colleagues stressed the need for more data in recommending care for adults with Down syndrome. Limitations of their review were comprised primarily of the reliance on scarce, indirect, or low-quality evidence.

In an accompanying editorial, authors led by Jason F. Woodward, MD, MS, of the Cincinnati Childrens’ Hospital Medical Center and the University of Cincinnati College of Medicine in Cincinnati, commented on the history of guidance in caring for these patients.

“Initial guidelines for the care of adults with Down syndrome were based on expert opinion. Despite increased clinical experience and body of research, evidence-based guidelines have not existed to inform adult health care practitioners in the management of adults with Down syndrome,” they noted.

And, they continued, the implementation of these guidelines may present several challenges for clinicians.

“It is anticipated that adult clinicians will encounter several challenges in implementing these guidelines. Adherence to certain U.S. Preventive Services Task Force recommendations may be low due to clinician knowledge, time, reimbursement, and social barriers, which may be further exacerbated for adults with Down syndrome, who often have atypical communication strategies or behavioral issues. Improvements are needed in the transition hand offs from pediatric clinicians, in guideline distribution and education, and in the limited time allotted to annual preventive health visits. Ideally, adults with Down syndrome may seek care from specialized centers for adults with Down syndrome or intellectual disabilities,” wrote Woodward and colleagues.

Nevertheless, these guidelines are a positive and important step in caring for these individuals.

“The recommendations address 10 selected high-priority areas, including mental health, Alzheimer-type dementia, diabetes, cardiovascular disease, stroke, obesity, osteoporosis, atlantoaxial instability, hypothyroidism, and celiac disease and represent an important effort to develop evidence-based clinical practice guidelines for primary care clinicians who provide care for adults with Down syndrome,” concluded Woodward and colleagues.

  1. In a JAMA Special Communication, researchers present a clinical guideline to support high-quality primary care for adults with Down syndrome.
  2. The lack of high-quality evidence these researchers found in their systematic literature review limits the strength of these recommendations and places renewed focus on the need for more research.

E.C. Meszaros, Contributing Writer, BreakingMED™

This work was supported by the Global Down Syndrome Foundation and donations from the Down syndrome community.

Tsou reported no disclosures.

Woodward has received grants from the Lumind IDSC Foundation and the Centers for Disease Control and Prevention, is a member of the Down Syndrome Medical Interest Group-USA, and has co-authored a review article with several members of the guideline Workgroup.


Cat ID: 925

Topic ID: 915,925,730,192,925