Our future health is in the hands of people with Down syndrome
Diego Real de Asua, MD, PhD
Attending Physician, Adult Down Syndrome Unit
Department of Internal Medicine
Hospital Universitario de La Princesa, Spain
Down syndrome (DS), caused by total or partial trisomy of chromosome 21, is the most frequent chromosomal disease in live newborns. As of 2016, approximately 1 in every 772 liveborn babies in the USA had DS (13.0 per 10,000). While elective terminations have accounted for an approximate 36% reduction in the number of live births of newborns with DS, the overall number of people with DS is steadily increasing[i], contrary to popular belief. The life expectancy of this population has also increased in recent decades and now stands at over 60 years, due to improvement in surgical techniques, antibiotic therapies, vaccination, and the implementation of specific health and social-occupational programs for this population.
Individuals with DS, and those with intellectual disabilities at large, face significant disparities in access to, and quality of, healthcare. A crucial issue, and a presently unmet need in these persons, concerns the need to transition to adult care. Adults with DS, their families, and pediatricians often face difficulties initiating the transition to adult-based services, and a considerable portion of adults with DS are impaired to do that[ii]. Hence, there is a growing need for professionals who can tend to the specific healthcare issues of these vulnerable populations.
The comorbidities affecting adults with DS differ from those of the general population, as well as from those of previous generations of adults with Down syndrome or children with this syndrome[iii]. Among the myriad of comorbidities that adults with Down syndrome may present, eye and ear conditions, weight disorders, autoimmune diseases and Alzheimer’s disease are particularly relevant due to their high prevalence, especially in those over 40 years of age[iv].On the other hand, the prevalence of solid tumors or atherosclerotic cardiovascular damage in these individuals is practically non-existent. Research into each of these fields in the DS population might be a unique opportunity to improve the health of these individuals while exploring potential novel pathophysiological pathways into diseases that have a high impact in the general population. Our future physical health could well be in the hands of people with Down syndrome, therefore.
[i] DeGraaf G, Buckley F, Skotko B. People living with Down syndrome in the USA: births and population. May 2022. Available online at: https://docs.downsyndromepopulation.org/factsheets/down-syndrome-population-usa-factsheet.pdf
[ii] Carfi A, Brandi V, Zampino G, Mari D, Onder G. Care of adults with Down syndrome: gaps and needs. Eur J Intern Med. 2015;26(6):375
[iii] Real de Asúa D, Quero M, Moldenhauer F, Suarez C. Eur J Intern Med. 2015;26(6):385
[iv] Carfì A, Romano A, Zaccaria G, Villani ER, Manes Gravina E, Vetrano DL, Bernabei R, Onder G.
The burden of chronic disease, multimorbidity and polypharmacy in adults with Down syndrome. Am J Med Genet A. 2020;182(7):1735