Doctors receive guidelines for treating adults with Down Syndrome

According to the Journal of the American Medical Association (JAMA), Down syndrome is the most common chromosomal condition and in 2010-2014 occurred in 1 of every 700 live births in the US. Individuals with Down syndrome have a significantly lower risk for some conditions, including solid malignancies, but a higher risk for other conditions, including congenital cardiac conditions, autoimmune diseases, and Alzheimer disease.

Average life expectancy for people with Down syndrome has substantially increased, from 25 years in 1983 to 60 years in 2020. According to one estimate, the number of people with Down syndrome living in the US was approximately 206 000 in 2010, although exact and current prevalence is unknown because of lack of data, changing survival rates across decades, and trends in live births vs termination rates.

Now, new guidelines are spelling out exactly how medical care for adults with Down syndrome should be distinct from that of their typically-developing peers. Experts from eight of the nation’s largest adult Down syndrome medical centers and other stakeholders spent four years combing research on the treatment of those with the chromosomal disorder in order to establish the first-of-its-kind evidence-based clinical guidelines.

The team focused on how Down syndrome intersected with treatment of mental health, dementia, diabetes, cardiovascular disease, obesity, osteoporosis, atlantoaxial instability, thyroid disease and celiac disease.

The result is a paper, published by JAMA, with 14 recommendations and four statements of good practice for clinicians treating those with Down syndrome.

The strongest recommendation is for all people with Down syndrome to be screened for Alzheimer’s disease starting at age 40. Two recommendations urge earlier and more frequent diabetes screening for those with the chromosomal disorder. Meanwhile, four other recommendations — managing risk factors for cardiovascular disease and stroke prevention, screening for obesity and evaluation for secondary causes of osteoporosis — paralleled guidance that’s already in place for people without Down syndrome.

“We are so pleased that the quality of our guideline rose to the occasion of being published in JAMA, and we are deeply grateful to our families and self-advocates for pushing us to work on this difficult project,” says Michelle Sie Whitten, president and CEO of the Global Down Syndrome Foundation, or GLOBAL, which spearheaded the effort. “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 outcomes.”

You may read the full report here.

Sources: Disability Scoop and JAMA