Introduction
Down syndrome is a genetic condition that results from an additional copy, or part of a copy, of the 21st chromosome.[1] For that reason, it is also known as Trisomy 21. Down syndrome is classified as an intellectual and developmental disability because this additional chromosome interferes with the typical development of the brain and body. According to recent estimates (2016-2020) from the Centers for Disease Control and Prevention (CDC), about 5,700 babies are born with Down syndrome in the United States every year.[2]
For individuals with Down syndrome, their degree of intellectual disability usually ranges from mild to moderate but infrequently can be severe or profound.[3] Some common cognitive and behavioral issues associated with Down syndrome include taking longer to learn things, a short attention span, and impulsive behavior.[1] Regarding physical development, individuals with Down syndrome often have decreased muscle tone. While it may take a little longer, individuals with Down syndrome usually meet developmental milestones as children.[1] Early intervention is recommended to optimize development through speech, physical, and occupational therapies.
The Transition from Pediatric to Adult Care
Although there are many resources to support children and adolescents with Down syndrome– including pediatric Medicaid benefits, targeted educational services, and specialized medical clinics– these supports typically end around the time a person reaches age 22 and leaves the school system. This event is often referred to as “the cliff” because of the sudden drop in critical services around the same time that a person may transition from pediatric to adult medical care. It is often difficult to find adult healthcare professionals who are knowledgeable about Down syndrome and can provide multi-specialty care coordination. The transition to a new medical setting can also be intimidating and brings with it a much stress and uncertainty.
Medical Care for Adults with Down Syndrome
Although individuals with Down syndrome are at increased risk for some health conditions compared to their peers without Down syndrome, they will still need much of the same medical care throughout their lives and should be managed similarly in the primary care setting. In this article, we will equip your practice to provide the same quality care to adult patients with Down syndrome that you provide to any other patient, in a way that is disability-inclusive, accessible, and respectful.
Down syndrome is a complex condition that often requires more care coordination. Individuals with Down syndrome may see multiple specialists or need medical equipment. Some require home care, or case managers for their insurance needs. Ideally, a coordinated interdisciplinary team– including social workers, nurses, and scheduling managers– would be available in addition to the primary care professional. Unfortunately, this is not always possible. Nevertheless, there are still many conditions that a primary care professional (PCP) can manage, such as hypothyroidism, gastroesophageal reflux, and even some behavioral health medications. Taking on these tasks as a PCP can reduce the number of specialty appointments a patient may need, although it may require you to schedule some extra time.
To make your practice more welcoming to adults with Down syndrome, consider small changes. For example, scheduling a person who may need a longer visit right before your lunch or towards the end of your day will allow for extended exam times. Train your scheduling staff to ask accommodation questions and build relationships in your community with providers who can advise you. Lastly, take advantage of community resources such as the Arc or your state’s disability-rights network. For further information regarding billing options and financing, review the reports found here and here.
Individuals with Down syndrome may not be able to read, understand, or act on health information independently. Healthcare professionals should communicate effectively with both patients and their caregivers. Avoid medical jargon and encourage patients to ask questions while answering them from a place of non-judgment.
Dental, Vision, and Specialty Care
Finding dentists, ophthalmologists, and behavioral health professionals who understand and are willing to see patients with Down syndrome can be incredibly difficult. Primary care professionals can help patients navigate this challenge. When arranging specialty care, contact other healthcare professionals ahead of time and ask if they have experience with patients with Down syndrome. Building these relationships can have reciprocal benefits; when asking for special services, offer to be a resource for general medical concerns and make yourself available to see the patients they refer to you.
For dental care, the Special Care Dentistry Association, an international organization committed to the oral health of people with special needs, can help you find local professionals able to care for individuals with Down syndrome or other intellectual disabilities. Vision exams are especially important in individuals with Down syndrome because the signs that may typically indicate a vision problem may be dismissed and attributed to the Down syndrome diagnosis.[4] Additionally, patients with Down syndrome are at increased risk for cataracts and keratoconus throughout their lives.[5]
People with disabilities often express their desire for a mental health professionals who understands the unique experience of living with a disability. If you are the clinician they trust the most, they may seek you out to assess and treat their mental and behavioral health concerns. An important thing to consider when treating adults with Down syndrome is that scales like the PHQ-9 and GAD-7 are not yet validated in this patient population. You should remain alert for any behavioral changes that are different from baseline, which might indicate a workup for depression, anxiety or PTSD. For additional resources, see the article Mental Health: Diagnosis and Treatment of Adults with Down Syndrome.
Although pharmacologic management is beyond the scope of this article, there are a few things to consider that may improve patient care. Can the patient swallow pills? If not, what liquid medications taste best? To minimize side effects, it is best to “start low and go slow”, as you would for a geriatric patient. Although some individuals with Down syndrome may benefit from talk therapy, non-verbal approaches such as art and music therapy could be effective options.
Some individuals with Down syndrome may benefit from sedated exams for dental care, vision or hearing tests, bloodwork, or other procedures. Although sedation is readily available in pediatric care systems, it may take a lot of advanced planning in adult care systems. If a patient must be sedated for a particular exam or procedure, it may be beneficial to combine multiple procedures into one instance of sedation.
The Limits of Support Systems and the Importance of Primary Care
Under the age of 21 (22 in some states), individuals with Down syndrome receive government-sponsored services through their school district and their pediatric Medicaid plans. These services may include speech, physical, and/or occupational therapies, in-home care including skilled nursing and home health aides, and assistive technology. At later ages, people with disabilities approach “the cliff”, graduating from school and often losing these supports. To maintain these services, individuals with Down syndrome will usually need to rely on Medicaid waivers,[6] which were created to help individuals with disabilities continue to live in the community. Each state has a division of Intellectual/Developmental Disabilities that is federally funded (find the office for your state).
Supplemental Security Income (SSI) provides monthly payments to people with disabilities and older adults who have little or no income or resources. Adults and children may be eligible for SSI if they have a disability, are blind, or are age 65 or older. Children can receive SSI; however, they will need to re-apply at the age of 18. There are asset limits that affect a person’s ability to obtain or keep their SSI.[7] Resources like ABLE accounts and Special Needs Trusts can help individuals with Down syndrome save for the future without affecting their benefit eligibility.
Each state has an Office of Vocational Rehabilitation (find your state’s agency), which assists disabled individuals to prepare for, obtain, or maintain employment. Additionally, these offices can provide funding for educational programs, assistive technology, and functional evaluations. Individuals or their families can self-refer for services; however, they must be deemed eligible for services through Vocational Rehabilitation intake. There is no cost for these services for people who are receiving SSI.
It is important to realize that your practice may be the only consistent support the individual or family has. Medical offices should keep and distribute information about federal entitlement programs, county and state offices of workforce development, and local social service agencies. Make sure that your patients are aware of these resources and how to connect with them. Additionally, healthcare professionals should understand that to access these services may require a significant amount of paperwork and documentation. It is believed that individuals with Down syndrome must fill out 3 to 5 times the amount of paperwork that individuals without Down syndrome do. Familiarize yourself with commonly used forms in your state and consider setting up an office workflow to manage them. The resource section of the CARE Down Syndrome website has information to share with the individual with Down syndrome and their family.
Ableism and Diagnostic Overshadowing
Although individuals with disabilities are protected from discrimination by the Americans with Disabilities Act, explicit and implicit biases still exist within the medical community, primarily in the forms of ableism and diagnostic overshadowing.
Ableism is a form of prejudice where someone believes that life without a disability is intrinsically better than life with one. This leads to stereotyping of and even discrimination against people with disabilities.[8] In the context of healthcare, ableism can negatively impact patients’ well-being. Healthcare professionals may make assumptions about what disabled persons can or cannot do, leading to inaccurate judgments about what treatments or procedures should be offered to them. In a study of 25,000 health professionals, while most reported little to no explicit bias, when assessed implicitly, the majority preferred nondisabled individuals.[9] For this reason, it is important that professionals continually assess their attitudes for any implicit biases they may have.
Diagnostic overshadowing occurs when doctors limit their diagnostic investigations because they attribute non-specific symptoms to a person’s disability. This is dangerous because it can lead to delays in care or missed diagnoses altogether.[10] When seeing a patient with Down syndrome, it may be helpful to think of their complaints both with and without the context of Down syndrome. It is especially important to be wary of diagnostic overshadowing in the area of mental health, as many attributes of mental illness can be dismissed as behaviors associated with Down syndrome. More information is available in the articles Mental Health: Diagnosis and Treatment of Adults with Down Syndrome and Avoiding Diagnostic Overshadowing when Caring for Adults with Down Syndrome.
Consider the “disability paradox.” This is the finding that many people with significant disabilities rate their quality of life as good or excellent while outside observers assume that the individuals’ quality of life is poor.[11] It is a misconception that individuals with Down syndrome are happy all the time, but that doesn’t mean that they don’t experience joy or find satisfaction in their relationships, jobs, and hobbies. Like anyone else, they experience a full range of emotions. Get to know your patients and avoid making assumptions.
Individuals with Down syndrome from racial and ethnic minority groups may experience barriers to healthcare in ways that differ from their white peers. In a survey regarding barriers, White, Black, and Latinx patients reported many of the same difficulties, such as transportation and problems with insurance and cost of care. However, while these barriers led to delayed care in the White group, they led Black and Latinx patients to forego care altogether.[12]
Communicating with Patients and Families
Good communication with patients, their families, and their support teams is key to providing respectful and inclusive healthcare. As mentioned above, individuals with Down syndrome usually have some degree of intellectual disability. Regardless, always remember to speak directly to the patient in a clear way without engaging in “baby talk.”[13] When thinking about your communication style, consider the acronym CARE; Clear, Attentive, Responsive, and Engaging.[14] While you may need to rely on the family members or caregivers that are present to provide history or context, ask questions of the patient directly, and give them time to answer. Remember that processing your questions can take time, so you may get an answer at the end of an exam to a question you asked at the beginning.
You may have patients with hearing or vision impairments that can impact how they communicate. However, it is never appropriate to shout at patients; this can be off-putting and may make others uncomfortable. It also changes the shape of our face and can look unfriendly. Ask the patient or their support person about the best way to communicate. This may involve using a sign language interpreter or providing written or Braille materials. Federal law under the Americans with Disabilities Act dictates that healthcare professionals must provide auxiliary aids and services to assist with communication whenever a patient needs them. In addition to the accommodations mentioned above, consider large-print materials and simplified language documents.[15]
When it comes to identity, it’s always best to ask a person how they self-identify. When in doubt, it is best to use “person-first” language (i.e., “person with Down syndrome” as opposed to “disabled person”). However, there are some exceptions. We know that individuals with Down syndrome can also have a co-occurring diagnosis of autism. Individuals with autism often identify as being a member of the autistic community and would refer to themselves as an “autistic person.”[14]
A recent survey of autistic and non-autistic adults with and without disabilities named fear and anxiety, processing time, sensory issues, and difficulty communicating with healthcare professionals as the major barriers to healthcare that are experienced by certain groups. Fortunately, all these barriers can be overcome with appropriate, thoughtful communication.[15]
Usually, individuals with Down syndrome can get around just fine on their own. Before assisting someone with something, it is courteous to ask. Be considerate of physical contact, as some individuals with Down syndrome may have some extra difficulty balancing or just may not like being touched. Also, remember that people often consider their assistive devices as an extension of themselves, so touching or leaning on someone’s wheelchair can be seen as an invasion of personal space. Finally, never make assumptions about what a person can or cannot do. Always defer to the person, as they know their own capabilities best.[14]
Creating an accessible atmosphere starts the moment someone enters your office and involves more than just the physical layout. Knowing your patient, creating a safe and comfortable space, and accommodating your patient’s needs will improve communication and accessibility.
Working with Paid Caregivers
Many individuals with Down syndrome will have non-familial caregivers or direct support professionals (DSPs) in addition to or in place of family members. DSPs help people with disabilities live independently and participate in work or school. They can assist with everything from activities of daily living (bathing, dressing, meal preparation, etc.) to participation in vocational activities. For example, they may serve as workforce development staff who assist in finding and/or customizing jobs, or as job coaches who provide direct employee assistance in the workplace.[16] Direct support professionals can also play an important role as patient advocates, navigating pathways so the person can get the accommodations they may need. Finally, DSPs can provide necessary emotional support as they have usually built a close relationship with the person they work with over time.[16]
When working with a patient’s support team, it is important to understand the relationship between the patient and each person on that team, and what role that person plays in the patient’s life. Sometimes the person accompanying the patient is not someone they know well and is just someone that gave them a ride to the appointment. You may consider asking your patient how they know the person with them, how long they have known them, and if you should complete the exam and speak freely in front of them. Always ask the patient if they would like the person accompanying them to leave the room for any discussions regarding sexuality, dating, or substance use. It is also important to make time alone with the patient to create an opportunity to screen for any abuse or neglect. Always clarify what the patient’s wishes are regarding information that you communicate to their family and ask whether you should work with them or their family/support person to schedule future appointments.
Decision-Making
A diagnosis of Down syndrome does not automatically preclude someone from being able to give informed consent. In most states, the age of majority is 18. When an individual reaches this age, he or she has the legal right to make adult decisions regardless of any functional limitations or disabilities. In some cases, there may be a designated guardian or conservator, but the lack of a guardian or conservator does not mean someone is capable of consent. Even when incapable of consent, the patient should be asked about assent, meaning agreement, and their response should be documented.[17] Seeking assent is a way for healthcare professionals to honor their ethical obligation to inform patients of important medical interventions, even if those individuals are not able to provide consent legally.
As with all medical care, informed consent is a process centered on communication between a healthcare professional, a patient, and their support team.[18] Capacity to give consent is not static and can change over time. This process requires a physician or other healthcare professional to give a patient information sufficient to allow understanding and approval for a proposed medical treatment or procedure. Healthcare professionals should deliver a written or oral explanation in a way the patient fully understands. This generally includes the diagnosis for which the treatment is proposed; nature of the treatment; name, dosage and frequency of any prescribed medications; expected benefits; possible risks and side effects; availability of alternatives; and prognosis with and without the proposed intervention.
In some states, decision-making can default to next of kin or a healthcare representative. There are other legal options that can be put in place including guardianship, power of attorney, and supported decision-making:
Guardianship is the most restrictive option. With the assistance of a health professional’s assessment and recommendation, the court determines the individual incompetent to make his/her own decisions. Through this legal process, guardianship results in an individual’s right to make his or her own decisions being removed, and a guardian being appointed. This is appropriate for patients who cannot understand information, communicate decisions, manage finances, or meet care for their own basic health and safety. It should only be considered in these cases if there are no other less restrictive alternatives.
Appointing a power of attorney provides concurrent authority to both an individual and their agent. It does not take any decision-making rights away from the patient. When a patient has a power of attorney, healthcare professionals must always defer to the patient if s/he has capacity.
When a patient is unable to provide consent or can only provide consent to simple procedures, they may use a health care representative. This is a friend or family member who is willing to make decisions about direct health care or disability services in the case that someone is incapacitated.[18] Health care representatives have access to patient information through HIPAA, though this varies from state to state. Taken together, these provisions form a legal framework called “supported decision-making” which includes various patient safeguards and protections. In this framework, a disabled individual identifies the areas where he or she needs decision-making assistance— healthcare, employment, relationships, finances, etc.— and the type of support he or she needs. The individual chooses trusted supporters, and the supporters commit to upholding the individual’s best interests in a formal decision-making agreement.[19]
In conjunction with a healthcare representative declaration, a healthcare directive can assist in decision-making conversations with patients. Also known as an advance directive, this is a consent form in which the patient documents the kind of healthcare they would like to receive and chooses a representative to make decisions if they can’t. The patient and representative then sign the form. There is also the “Five Wishes” form which allows a patient to share the following information: 1) who they would like to make decisions for them when they can’t, 2) the kind of medical treatment they do and don’t want, 3) how comfortable they want to be, 4) how they want people to treat them, and 5) what they want their loved ones to know.
Self-Determination and Dignity of Risk
All individuals, including those with Down syndrome, have the right to both self-determination and dignity of risk. Self-determination is the right of an individual to make their own choices and set their own goals. Dignity of risk is when an individual can make these choices for themselves even if they will have negative consequences. While well-intentioned healthcare professionals or caregivers may believe that they are protecting someone by making decisions for them, supporting these rights has actually been shown to improve a person’s quality of life. Good communication is key when navigating self-determination and dignity of risk with individuals who have Down syndrome.[20] Supported decision-making can help ensure a person’s right to self-determination.
Self-determination and dignity of risk are often thought of in the context of end-of-life choices, but we should consider this throughout the continuum of care. Indeed, it is important to have these conversations with an individual and their caregivers as early as possible so they can prepare before the patient reaches the age of majority.[21] Some common areas where this idea comes up in primary care include the decision to test for and treat sleep apnea, or how to approach feeding and nutrition. These cases may require you to step back and consider what options are truly available to the individual with Down syndrome. Have you taken into account what matters to them based on their verbal expressions or prior actions? Instead of limiting your options to what’s safest for the person and framing choices through a protective or paternalistic lens, are you incorporating the viewpoint of the individual to the degree that they can share it?
Advance Directives and End-of-Life Care
The life expectancy of individuals with Down syndrome has increased drastically, from 28 years in 1984 to 60 years in 2024.[22] (See the companion article, Life Expectancy of Adults with Down Syndrome.) Until adults with Down syndrome reach approximately the age of 35, they are less likely to have some health conditions than other people that age. After the age of 35, however, they tend to age more rapidly and accumulate more health conditions.[23]
Alzheimer’s disease seems to be the main contributor to the lower life expectancy of someone with Down syndrome compared to the non-Down syndrome population.[23] (See related article, Alzheimer’s Disease in Adults with Down Syndrome.) Most individuals with Down syndrome will develop Alzheimer’s disease. Healthcare professionals need to keep this on their radar so they can have discussions early enough to prepare for this possibility. The mean age at diagnosis for someone with Down syndrome is 54.5 years, while the mean age at death is 59.2 years.[23] About 30% of individuals with Down syndrome in their 50s have Alzheimer’s disease. This percentage increases to 50% of individuals with Down syndrome in their 60s.[24]
Because end-of-life conversations (EOL) can be stressful and individuals with Down syndrome may need extra processing time, it is important to start these difficult conversations early.[25] Some common barriers to EOL discussions with individuals with Down syndrome include hesitation on the part of healthcare professionals and caregivers, professionals’ lack of specialized training or education, perceived communication difficulties, and incorrect assumptions about an individual’s ability to grasp information.[25] During the COVID-19 pandemic, individuals with Down syndrome who were admitted to the hospital with COVID pneumonia were six times more likely than individuals without Down syndrome admitted with COVID pneumonia to be listed as “Do Not Resuscitate” in their code status. This demonstrates the importance of early conversations, so that decisions can be made before someone is admitted to the hospital. This finding is also a call for professionals to consider their own biases when approaching end of life care for individuals with Down syndrome.[26] Resources such as the NDSS End of Life and Down Syndrome Guidebook can be useful for primary care professionals preparing to have these conversations with patients and families.
Palliative care can help people remain comfortable and supported as they approach the end of their lives. Recently, an interdisciplinary team of professionals published the following palliative care guidelines for adults with intellectual disabilities,[27] which can be extended to individuals with Down syndrome:
1) Down syndrome is a type of disability, not a disease or mental illness.
2) Healthcare professionals need to value all the relationships that individuals with Down syndrome have, including with their families and caregivers.
3) Unconscious bias and discrimination against individuals with Down syndrome contribute to significant health disparities.
4) There are legal safeguards and systems in place regarding decision-making in protected patient populations, which includes those with Down syndrome.
5) Individuals with Down syndrome may show pain and other symptoms differently than individuals without Down syndrome, and healthcare professionals should learn to recognize and assess each person individually. (See Pain in Adults with Down Syndrome article for more information.)
6) Decisions to disclose bad news to individuals with Down syndrome require careful consideration. Non-disclosure of illness, approaching death, or the illness or death of a significant other may increase distress for some individuals with Down syndrome.
7) When properly supported, many individuals with Down syndrome can understand and engage in goals-of-care and EOL conversations.
8) Individuals with Down syndrome face multiple barriers to accessing quality palliative care services and EOL care.
9) Individuals with Down syndrome benefit tremendously from having an interdisciplinary team within healthcare and community settings.
10) Caregivers and professionals involved in supporting individuals with Down syndrome need training and support in navigating EOL care.
In the previous section, we discussed options for individuals with Down syndrome who cannot give consent for medical care. As people age, it is helpful to plan for a time when they may be incapacitated and unable to make their own decisions. Advance directives are voluntarily executed documents prepared by a competent, adult patient and signed by the patient and (in some states) two witnesses. A lawyer is not needed. Advance directives record the patient’s wishes regarding certain life-sustaining interventions when the patient is unable to communicate for themselves. There are two types of advance directives: a living will and a healthcare power of attorney. A living will expresses a patient’s wishes and instructions for healthcare when the patient is determined by the attending physician to be incompetent, in an end-stage medical condition, or in a state of permanent unconsciousness. A healthcare power of attorney appoints a healthcare agent(s) and determines when a healthcare agent can authorize medical decisions for the patient. Healthcare agents may authorize ongoing treatment or the withdrawal or withholding of treatment, including DNR status. Healthcare agents are not able to authorize abortions, sterilization, or electroconvulsive therapy.[28]
Conclusion
It is vital to treat adults with Down syndrome as individuals and to not allow diagnostic overshadowing to guide their care. Individuals with Down syndrome have many of the same hopes and dreams as any other patient and it is important to respect their autonomy, listen to them carefully, and allow them the time they need to process medical information. Many practitioners cherish the frank, funny, and thoughtful conversations they have had while caring for individuals with Down syndrome. By following the advice given here, you will walk into your next exam room better equipped to serve their needs for a lifetime.