New Clinical Guidelines Established for Adults with Down Syndrome

Despite Down syndrome being the most common chromosomal condition, there haven’t been any guidelines for the care of adults — until now. The first-in-kind evidence-based clinical guidelines for adults with Down syndrome have finally been established.

The Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome (Global Guideline) are now available for medical professionals to aid in the care of their patients.

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. “Because individuals with Down syndrome are living longer, guidance is needed to support high-quality care,” said Amy Y. Tsou, MD, MSc, of the ECRI Center for Clinical Excellence and Guidelines, Plymouth Meeting, Pennsylvania, and colleagues.

“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.”

It took four years of compilation, coordination and assessment to complete the Global Guidance, which was published in the Journal of the American Medical Association.

“It’s clear that the lack of Down syndrome research funding over the last 20 years has prevented us from easily or quickly creating these guidelines,” said Bryn Gelaro, LSW, Director of Adult Initiatives & Special Projects at Global Down Syndrome Foundation (GLOBAL) in a press release. “We were fortunate to have expert authors and volunteers who helped identify important research needs that will bolster and better define our future Global Guideline recommendations.”

The Global Guideline addresses 10 selected high-priority areas, including mental health, Alzheimer-type dementia, diabetes, cardiovascular disease, stroke, obesity, osteoporosis, atlantoaxial instability, hypothyroidism, and celiac disease. It is made up of 14 recommendations and four statements of good practice.

The authors made recommendations specific to adults with Down syndrome that differ from those for adults without Down syndrome, such as earlier screening for diabetes, Alzheimer-type dementia and thyroid disease. Other recommendations include managing risk factors for cardiovascular disease and stroke prevention, screening for obesity and evaluating for secondary causes of osteoporosis.

Here is a breakdown of the 14 evidence-based recommendations for clinicians for the primary care of adults with Down syndrome:

1. When there is concern for mental health disorder, refer the patient to a clinician familiar with treating these disorders in adults with Down syndrome.
2. When there is concern for a mental health disorder, follow guidelines for diagnosis in the Diagnostic and Statistical Manual of Mental Disorders (Fifth Edition; DSM-5).
3. Practice caution when diagnosing age-related, Alzheimer-type dementia in adults with Down syndrome younger than 40 years old because of its low prevalence before this age.
4. Assess adults with Down syndrome and interview primary caregivers about changes from baseline function annually, beginning at age 40.
5. Screen for type 2 diabetes in asymptomatic adults with Down syndrome every 3 years beginning at age 30.
6. Screen adults with Down syndrome with obesity for type 2 diabetes every 2 to 3 years beginning at age 21.
7. Assess the need for statin therapy beginning at age 40 years and every 5 years after in patients with no history of atherosclerotic cardiovascular disease (heart issues caused by the build-up of plaque in the arteries).
8. Manage risk factors for stroke as specified by the American Heart Association/American Stroke Association Guidelines for the primary prevention of stroke.
9. If there is a history of congenital heart disease, a periodic cardiac evaluation and a corresponding monitoring plan should be reviewed by a cardiologist.
10. Monitor for weight change and obesity annually by calculating BMI in adults with Down syndrome.
11. Routine cervical spine radiographs should not be used to screen for risk of spinal cord injury (SCI) in asymptomatic individuals. Instead, review signs and symptoms of cervical myelopathy (a spinal cord condition that causes symptoms like clumsiness or imbalance) 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. Patients who sustain a fragility fracture should be evaluated for secondary causes of osteoporosis, including screening for hyperthyroidism, celiac disease, vitamin D deficiency, hyperparathyroidism, and medications that may have adverse effects on bone health.
14. Screening adults with Down syndrome for hypothyroidism should be performed every 1 to 2 years using a serum thyrotropin test beginning at age 21, as prevalence of hypothyroidism is substantially higher.

The statements of good practice include the following:

• Review behavioral, functional, adaptive and psychosocial factors annually with adults with Down syndrome, their families and caregivers.
• Evaluate for medical conditions that may present with psychiatric and behavioral symptoms when doctors have concern about a potential mental health condition in adults with Down syndrome.
• Patients should follow a healthy diet, regular exercise and calorie management as part of a comprehensive approach to weight management, appetite control and enhancement of quality of life.
• Assess for gastrointestinal and non-gastrointestinal signs and symptoms of celiac disease annually using targeted history, physical examination and clinical judgment of good practice.

While implementing these guidelines may take time, they are a positive and important step in caring for adults with Down syndrome and providing support across the lifespan.

“Now we can focus on collaborating with other Down syndrome and disability organizations as well as medical institutions to ensure clinicians are following our Global Guideline and measuring outcome,” said Michelle Sie Whitten, president & CEO of GLOBAL.