Health Care Concerns and Guidelines for Adults with Down Syndrome
By: Moya Peterson, PhD, APRN, FNP-BC, RN, Clinical professor- Schools of Nursing and Medicine, University of Kansas Medical Center, Kansas City, KS 66160
Contact information: firstname.lastname@example.org
When I was a senior in college, I met a young man who changed the course of my professional career. He was in his mid-20s and was in a day service program that I was assigned to as a clinical experience. He had Down syndrome. I had never before met anyone with Down syndrome (DS). He had a wonderful personality and enjoyed every aspect of his life. He made a huge impression on me. Then the next year my new husband and I moved to Kansas City. There, I met a teen with DS and we became best friends. We still are, in fact, and now she is my patient as well! She has been part of every aspect of my life. My children have grown up with her as part of their lives. These two people have influenced the course of my career. Because of them, I have developed a deep regard for adults with DS and their families. They are special to me, and I wanted to offer them the best medical care that is available. I realized that there were so few clinics dedicated to adults with DS that I knew that is what I needed to do. It has been gratifying work and I want to share what I have learned over the years as I have cared for this special population.
As of 2010, the birth prevalence in the US of a child with Down syndrome (DS) was 1 in 792 births (de Graaf, Buckley & Skotko). The authors also estimated that there was a total population of over 206,000 individuals with DS in the US. It was estimated that there was an individual with DS in every 1500 people in the US. Not only have the numbers increased but the age of those individuals has also increased dramatically. A general statement was that in 1950 only 27% of the population with DS was older than 20 years and only 4% were older than 40 years. In 2010 the percentage of people with DS over 20 had increased to 57% and those older than 40 had increased to 28% (de Graff, et al).
Another perspective of those statistics seems even more revealing. In 1950 the mean age of death for a person with DS was 3 years. By 1970 the mean age was 12 years. In 1990 it had risen to 35 years and finally, in 2010 it was 48 years. However, the median age of the DS population in 2010 was 54 and in 1950 it was 0 years (de Graff, et al). For clarification, the mean is the average of all the numbers and the median is when all the numbers are placed in numerical order and the central number is identified. So that would indicate that there are more and more folks with DS living lives well into the 50s. In fact, the current life expectancy is greater than 60 years (Van Zant & McCormick, 2021).
These increased lifespans have multiple reasons. Surgeries have been perfected to correct heart defects that used to take babies’ lives early on. Medicine has learned how to treat chronic diseases that this population is at risk for and treat them successfully. They are also afforded the best care medicine can provide for acute issues as well. But this has all occurred just in the last 20 years or so. So this is a new area for medicine. Also because of this increase in lifespan, there are now diseases occurring that there was no idea this population was at risk for because they had not lived long enough to experience them. So medical care is now trying to catch up and develop new approaches to long-term health care for adults with DS.
As many parents already know there are new challenges when a child with DS grows into the adult years. Many of these adults want the same thing that other people their age want – a college education, a significant other, their own apartment or home, and a good job. There are many levels of abilities, and each has its own challenges and rewards.
Here are the knowns: At age 21 years several things happen that are outside the adult with DS and their family to manage. The first is that school is now over. If the adult has chosen to continue in school after 18 years, it is now over. Also, many social activities that were connected with the school are no longer as interesting as they were, and new social contacts are needed. For some, former social contacts have already left for jobs or to continue their education so some loneliness can occur. Also, all the healthcare providers and specialists that have cared for this special person now inform the adult and their family that they can no longer care for them in the pediatric environment. The adult and the family must now look for new providers that can address their special requirements. Finally, if the family has not looked ahead, many programs and residential placements have long waiting lists and if the adult does not want to or is not able to attend a college program there is little for them to do during the day. Many factors must be considered in what happens then to keep the adult occupied and engaged during the day.
Finding a new provider is not always as easy as calling the provider who cares for the rest of the family and adding the adult with DS. Because of this new area of medicine, many providers do not know what to monitor or what the health concerns are in adults with DS. Complicating this is the small number of clinics that are specific to adults with DS. Santoro, et al, (2021) completed a survey of specialty clinics for adults with DS (2021) and found that less than 5% of the adults with DS were being served by a specialty clinic for adults with DS.
For that reason and many others, a group of healthcare providers was brought together by the Global Down Syndrome Foundation to address healthcare guidelines for adults with DS so that any healthcare provider could access those guidelines and institute them. The guidelines were published in 2020 (Bulova et al, 2020). These guidelines are now in the process of being updated as well as addressing other concerns. They are accessible in several languages and have many user-friendly tables and charts as well as the article published in the Journal of the American Medical Association.
Guidelines in Summary
The first guideline deals with mental health in the adult. Behavioral and mental health issues are common in adults. However, these conditions can also be confusing because of misinterpretation of the presenting symptoms. All behaviors are purposeful but validating and interpreting those behaviors can be difficult. They can be a result of a physical issue as well as a mental health issue. Some, such as self-talk, are just normal behaviors in this population and are not indicative of mental illness. It is well known that adults with DS do develop Alzheimer’s dementia at an earlier age than the neurotypical population. However, it is rare for them to develop this prior to age 40 years. If there are dementia-like symptoms such as memory loss, or developmental loss, prior to age 40 other sources of the issue must be investigated. Even after the age of 40 years, the dementia diagnosis is only determined after all other possibilities are ruled out. For this reason, a screening tool such as the NTG-EDSD was developed for the diagnosis of dementia in adults with intellectual disability. This screening should be started at age 40.
Prior to age 40 alternative causes should be considered for changes in mental health status and treated accordingly. Other causes such as hypothyroidism, sleep apnea, and celiac disease should be ruled out or treated.
The second guideline concerns screening for diabetes. The population with DS is known to have an inborn autoimmunity making them more at risk for conditions such as hypothyroidism, celiac disease, diabetes Type 1, and alopecia. Therefore, adults should be screened at least every two to three years for diabetes, either Type 1 (insulin-dependent) or Type 2 (can use oral medications). Certainly, if the adult is overweight or obese, the screening should be done more often as this is a risk factor for Type 2.
The third guideline concerns heart disease. The evidence is absent concerning whether treatment with statins is appropriate for adults with high cholesterol numbers. At this point, it is not recommended to treat with statins unless there is a positive 10-year risk calculation, and it falls within the US Preventative Services Task Force recommendations. However, some expert panels have recommended against taking statins because when the benefit of the drug is weighed against the risks of potential adverse effects and polypharmacy the evidence was quite weak and so is not recommended.
The next guideline concerns stroke prevention. With a history of about half of the adults with DS having had a congenital heart defect that was repaired, it is recommended that adults be evaluated by a cardiologist on a routine basis. The additional risk factors of congenital heart issues, obstructive sleep apnea, and moyamoya disease make it imperative that a cardiologist be involved in routine follow-up.
Weight management is always a difficult topic. There is little research but it has been established that decreased caloric intake and exercise alone had little efficacy in the long-term management of weight. Other issues common in DS that make management difficult are conditions such as sleep apnea and hypothyroidism, poor appetite-satiety control, lack of physical activity, and side effects of medications. It is recommended that activity of any kind be encouraged, and a healthy diet and portion control are advised. The body habitus in the adult with DS is as harmful to them as it is to anyone else.
A common concern, especially for those involved in athletics, is atlantoaxial instability. However, as adults, unless they are showing signs of spinal cord issues such as altered gait, or new incontinence, no intervention is necessary. The cervical spine x-rays should not be used for screening. A review of the signs and symptoms consistent with spinal insult and a physical exam should be adequate to screen for this disorder. Special Olympics have, in general, changed their requirement for the x-ray as it is an inconsistent finding.
Another variation for the adult is in screening for osteoporosis. The evidence to support the standard osteoporosis guidelines including bone mineral density was poor. If an adult with DS has a fracture, they should be evaluated for secondary causes such as Vitamin D deficiency, hyperthyroidism, celiac disease, and others. It is thought that bone density may not be the appropriate measure for testing for this population. They have short stature, and the standards are based on the general population. Also, it has been noted that the bone density loss that adults with DS experience may be from reduced bone formation rather than the bone reabsorption seen in the neurotypical population. For this reason, the medications used in the general population which reduces bone reabsorption (bisphosphonates) may be ineffective.
As mentioned numerous times, the thyroid, whether underactive or overactive, is key in many of the issues in DS. There is a high prevalence of hypothyroidism in adults with DS and it is recommended that a serum thyroid stimulating hormone level be drawn every one to two years. The presence of an underactive thyroid is present in about half of the adults.
Finally, the last recommendation made was that adults with DS be assessed every year for any gastrointestinal issues including diarrhea, constipation, or cramping. These can be symptoms of celiac disease. There is no reason to screen an adult that is not having issues. It is also recognized that constipation can be quite common in all adults with DS so that must be considered as well.
Common issues that have not yet been discussed in the guidelines
There are several issues that have not yet been discussed in the guidelines, although, some of which are in development at this time. Some typical screenings that are recommended for neurotypical adults are not recommended for adults with DS for a variety of reasons. Some of the tests would require some type of sedation which can be difficult for these adults. Other reasons revolve around the fact that these conditions are not seen in adults with DS and the risks associated with the screenings outweigh the benefits.
Pap smears – The females with DS typically do not have any risk factors for developing cervical cancer. For many, this testing requires sedation, which is always a risk.
Colon screening – There is little evidence that this population develops colon cancer. However, if there is a strong family history, a genetic test that does not require extensive preparation, diet changes and anesthesia may be a better choice.
Breast cancer screening – Females with DS have not been found to develop breast cancer. The mammogram is a somewhat difficult test to endure as well and to cooperate with. It is not necessary to do mammograms on a routine basis because the likelihood is quite low of having a positive finding. However, if there is a strong family history of breast cancer, one could consider sonograms of the breast which may be easier to accomplish for the adult female.
Immunizations – It is recommended that all routine immunizations be given to the adult with DS. This includes the flu vaccine, tetanus vaccine, and the COVID vaccine. Vaccines such as the ones recommended for those 65 years & older (such as the pneumonia vaccine) should be given at an earlier age secondary to the premature aging and shorter life span that the adult with DS experiences.
So, after all of this, what does it boil down to? When the adult with DS gets ready to transition to adult healthcare try to find a clinic that specializes in adult care. If that is not possible, download the guidelines and take them to the primary care provider that has been selected to give them directions on what is needed and how to address some of the concerns unique to the adult. Start this process early. Do not wait until the current provider gives an ultimatum and the need for a new provider becomes critical. Some providers will not want to see an adult with DS, some will not take the insurance that the adult may have, and some will just feel unsure about the care that they may be asked to provide. Others are willing but unsure of how to change the care routinely given to an adult to the care needs of the adult with DS.
Enjoy your adult. They are very special people with great visual memories and a great sense of humor. They are good employees and loving people. But sometimes they can carry quite heavy loads if the environment around them is stressful. This can result in not uncommon mental health issues. But these can and should be treated.
As research finds out more and medicine gets better at providing care, their life span is going to continue to increase. More adults will want independent homes, jobs, and significant others. Be sure to talk to them about safety in the community and assist them in making wise financial decisions as well. If the adult needs guardianship or some form of legal assistance or protection it is important that that process begin before they are 18 or at age 18. Do not wait until there is a crisis and the medical or legal person cannot share information. For example, if informed consent is needed, be sure legal protections are in place so that the adult can get the care needed.
There are challenges and rewards, but that is no different from raising any child to adulthood. Maybe these adults have different challenges, but they also have different rewards. As medicine and society continue to recognize the unique abilities and needs of this population, they will become healthier, and their limits will become less.
Bulova, P, Capone, G., Chicoine, B., Harville, T., Martin, B., McGuire, D., McKelvey, K., Peterson, M., Tsou, A., Tyler, C., Whitten, M., Gelaro, B., Wells, M. (2020). Global Guidelines for Care of adults with Down syndrome. Journal of the American Medical Association. 324(15):1543- 1556. doi:10.1001/jama.2020.17024
De Graaf, G, Buckley, F, & Skotko, B. (2017). Estimation of the number of people with Down syndrome in the United States. Genetics in Medicine. 19(4): 439-447.
Moran JA, Rafii MS, Keller SM, Singh BK, Janicki MP; American Academy of Developmental Medicine and Dentistry; Rehabilitation Research and Training Center on Aging With Developmental Disabilities, University of Illinois at Chicago; American Association on Intellectual and Developmental Disabilities. The National Task Group on Intellectual Disabilities and Dementia Practices consensus recommendations for the evaluation and management of dementia in adults with intellectual disabilities. Mayo Clin Proc. 2013;88(8):831-840. doi:10.1016/j.mayocp.2013.04.024
Presson, AP, Partyka,G, Jensen, KM, Devine, OJ, Rasmussen, SA, McCabe,LL, & McCabe,ERB. (2013) Current estimate of Down syndrome population prevalence in the United States. Journal of Pediatrics. 163(4). 1163-1168.
Santoro, SL, Campbell, A, Balasubramanian, A, Haugen, K,Schafer, K, Mobley, W. (2021). Specialty clinics for adults with Down syndrome: A clinic survey. American Journal of Medical Genetics. Part A. 1767-1775. https://doi.org/10.1002/ajmg.a62169.
VanZant, J. S., & McCormick, A. A. (2021). Health care transition for individuals with Down syndrome: A needs assessment. American Journal of Medical Genetics Part A, 185A:3019–3027. https://doi.org/10.1002/ajmg.a.6240