Introduction
Caring for adults with Down syndrome, no matter your medical specialty, has the potential to significantly enrich your clinical practice. This article will prepare you to welcome adults with Down syndrome into your practice and provide patient-centered care.
Patient-centered care prioritizes a patient’s values, preferences, and beliefs. It is an approach that values partnership between patients, families and healthcare professionals.[1] Patient-centered care is “based on deep respect for patients as unique living beings, and the obligation to care for them on their terms. Thus, patients are known as persons in context of their own social worlds, listened to, informed, respected, and involved in their care—and their wishes are honored (but not mindlessly enacted) during their health care journey.”[2] This patient-centered approach is being recognized as beneficial not just for adults with Down syndrome and intellectual and developmental disabilities, but for all people.[3]
This article provides many tools, strategies, and accommodations to use in clinical practice to improve care provided to adults with Down syndrome. However, the most important aspect of caring for any person, including an adult with Down syndrome, is to treat that person with respect. Additional resources are available in the Resources section of the website and noted where applicable.
Communication
Effective communication is a fundamental aspect of the doctor-patient relationship. Communication is essential to provide quality healthcare and for compliance with the Americans with Disabilities Act (ADA).[4] In addition, there is research that suggests a positive correlation between higher quality of life reports and better communication which only further supports the importance of effective communication strategies.[5] Unfortunately, research also shows that if the patient has an intellectual disability, healthcare professionals often prefer to communicate with caregivers rather than engaging the patient directly.[4] In this section, we introduce specific communication strategies to ensure that medical visits are patient-centered as well as ADA-compliant.
Healthcare professionals need to be aware of ableism (prejudice against people with disabilities) and how that impacts care provided to patients who communicate differently. Non-speaking patients with intellectual disabilities are at particular risk of being marginalized in the healthcare system by healthcare professionals who are not comfortable with alternative forms of communication.[5] Non-speaking does not mean non-communicating, and there are multiple ways to communicate with individuals with Down syndrome.
Speak Directly to the Patient
When you walk into the room, assume the patient is the primary communicator. Always direct your greeting and questions to the patient first, not the family member or caregiver. Consider shaking hands or giving the patient a fist bump. If it is clear the patient does not like physical touch, follow their lead. After greeting the patient, ask the patient to introduce you to the others who are present in the room: “Who is with you today?” Making small talk can make the patient feel more comfortable, so before beginning your interview ask them about favorite interests or hobbies.[5][6] This technique promotes communication between healthcare professional and patient and is a key part of patient-centered care.[5]
Sometimes a patient’s speech may be difficult to understand. If you have trouble understanding the patient, it is fine to ask the patient to repeat something or to ask if someone else in the room more familiar with his/her speech understands what is being said. This will prevent you from making incorrect assumptions or missing key information. When you do need to direct a question or conversation to another person in the room, ask the patient for permission first and thank them for allowing others to participate in the conversation.[5][6] From time to time you can also use the “teach-back method”. This involves asking the patient to share in their own words what has been said and helps determine whether a patient really understands what you are discussing.
If it becomes clear that the patient does not communicate with speech, ask the family member or caregiver how the patient prefers to communicate, using augmentative and alternative communication (AAC) devices when appropriate. Examples of AAC devices include communication apps on computer tablets, picture exchange communication systems (PECS), speech-generating devices (SGDs), eye-gaze devices, and other technologies.[7] A referral to a speech and language pathologist for an evaluation and recommendations can guide AAC device selection. More information is available here.
Explain What You Do
Expressive language is spoken, written, or signed. Receptive language is the ability to understand these modes of expression, and receptive language can be intact even when expressive language is impaired.[6] Just because someone is not responding to questions that are asked does not mean they do not understand what you are saying. Because of this it is very important to explain what you are doing when you examine a patient. Some patients can be very sensitive to touch, especially if they have autism as a dual diagnosis. Asking before you touch is not only respectful but can prevent a situation where you examine a patient in a way that provokes a challenging behavior. An example of this would be performing an ear exam on a patient who is extremely sensitive to the otoscope and becomes distressed and then attempts to avoid the exam.
In summary, healthcare professionals should direct conversation to the patient, use communication devices as appropriate, and assume patients are able to understand. Lack of speaking does not mean lack of capacity for decision-making. This is particularly relevant when discussing guardianship and alternatives to guardianship with patients and their families.[5]
Use Person-First Language
Putting the patient first is the core of patient-centered care, and the language you use reflects this. When presenting a patient to a colleague who is on the care team you should say “A 24-year-old man with Down syndrome” instead of “a Down’s man” or a “Down syndrome man.” In the United States, it is typical to say, “Down syndrome” instead of “Down’s” or “Down’s syndrome.”
It is not acceptable to use the terms “mentally retarded” or “retarded”, which have been replaced by “intellectual and developmental disability”, abbreviated IDD. When referring to Down syndrome itself, it is a condition and not an illness or disease. Individuals do not “suffer from” Down syndrome. It is worth noting there are some individuals who prefer identity-first language. This is more common in the autistic and Deaf communities.[8] More information about person-first language can be found here.
Mind Your Nonverbal Communication
Many adults with Down syndrome can readily read facial expressions and body language. Be aware of the energy you bring to a visit. Although masks help prevent transmission of disease, they can make nonverbal communication difficult. If it is clinically safe to do so, consider unmasking so your patient can see you smile and read your facial expressions. Patients may respond to you through nonverbal communication as well, so stay attentive to their cues.[6]
Over time, strong relationships with patients can improve your ability to interpret nonverbal communication such as cries, grimaces, and movements. This can be particularly important when assessing pain. In the short term, you may need to rely on support people in a patient’s life to help interpret these non-verbal expressions.[5]
Simplify Your Language
Use simple, short sentences. Do not combine multiple ideas into one question. Pause for questions frequently to ensure mutual understanding. Avoid medical jargon and complex concepts that could be confusing to a patient. A concept that can be confusing for individuals with Down syndrome is time. Instead of asking “How long have you had these symptoms?” or “Has this been going on for more than a month?” use memorable moments to anchor time. For example, “Were you coughing on your birthday?” or “Were you sad when you were in Florida?”
Be aware that some things you say may be taken quite literally. Individuals with Down syndrome tend to have stronger concrete thinking than abstract thinking, which can impact how information is interpreted. For example, telling an anxious patient “Just one more second” as you are finishing your physical exam can be confusing, as they may expect to leave your office immediately, but you still need to discuss the treatment plan, administer a vaccine, and print paperwork. It is more accurate to say, “This exam will take just one more second, and then we can sit down and talk”. Another example is telling a patient who needs to improve their blood sugar level that they need to “get to a better place” and the patient concludes they are moving into a new house. This topic is further addressed in the article Common Characteristics of Adults with Down Syndrome.
Even with simplified language, history-taking can be difficult. To assist, you can use this worksheet available on the NDSS website. This can be helpful in making an accurate diagnosis and ensuring a patient’s concerns are heard.[9]
Assess Reliability of Responses
Avoid asking leading questions that would guide the patient to a particular answer. Many individuals with Down syndrome have “people pleasing” tendencies; to counter this, it helps to ask the same question several ways to ensure you are getting consistent responses. You can then confirm your findings with others in the room, who may be either nodding in agreement or saying that this is the first time they ever heard such a thing.
The reliability approach also applies to the physical exam. For example, you may need to examine the abdomen or the knee multiple ways to ensure your findings are reproducible and reliable. If you distract the patient with conversation while probing for painful areas, there should be a reaction that indicates real pain. Whether or not the patient can express pain verbally, it is important to watch facial expressions and body language that indicate pain such as grimacing or pulling away.
Take a Good Social History
Understanding the patient in the context of his or her life is important when determining a baseline, in case there are physical, mood, or memory changes in the future. Ask the patient about life outside of the medical office, including their living environment, employment, friendships, and educational background: “Do you live with your parents?” “Are you in school?” Inquire about their hobbies, current sexual activity and interest in relationships, and any alcohol, tobacco, or drug use. Ask what level of support the patient receives in terms of basic activities of daily living (ADLs) and instrumental activities of daily living (IADLs). Basic ADLs include bathing, personal hygiene, using the restroom, eating, dressing, and mobility (transferring). Instrumental ADLs are more complex and are critical for living independently in the community. They include, but are not limited to, managing money, making phone calls, managing health, shopping, preparing meals, arranging transportation, or doing laundry.[10]
Beginning at age 40, adults with Down syndrome should be assessed annually in the following six domains: 1) cognition, memory, and executive function, 2) behavior and personality, 3) communication, 4) adaptive functioning, 5) ambulation and motor skills, 6) general decline in established skills. It is important to identify any changes in these six domains to detect early-stage age-related Alzheimer’s-type dementia or other medical conditions.[11]
Finally, ask what resources the patient may receive from local, state or federal programs. If the patient is not connected to government resources, have the information ready to facilitate that connection. Ask if the patient is connected to non-government agencies such as Special Olympics or a local Down syndrome association. It is important to connect your practice to these resources, as they can provide training and facilitate referrals. From the patient’s perspective, it can take considerable time to receive any state and federal support. The enrollment process can be cumbersome, and there can also be long waitlists to receive services. It is best to start the process early, before someone is in crisis, so the resources are available when needed most. The Resource Section has information that can assist individuals with Down syndrome and their families to get guidance on applying for and obtaining resources.
Ask the Hard Questions
Just like their peers, adults with Down syndrome may drink alcohol, smoke tobacco, take drugs, drive cars, have sex, and engage in other risky behaviors. Adults with Down syndrome may also struggle with life transitions, dysfunctional relationships, and depressive episodes. It is important to note that individuals with developmental disabilities may experience depression, anxiety and other mood disorders at greater frequency than those without these disabilities.[6] Mood disorders in individuals with Down syndrome often present as changes in behavior rather than mood changes that you could assess through a self-report questionnaire (e.g., PHQ-9 or GAD-7). The Diagnostic and Statistical Manual for Intellectual Disability can assist healthcare professionals in making an accurate psychiatric diagnosis.[6] Of note, observed behavioral changes versus reported mood symptoms are the primary difference in diagnostic criteria for mental health disorders in the DSM-ID-2 vs. DSM.[12] More information in available in the Mental Health: Diagnosis and Treatment of Adults with Down Syndrome article.
Create a dedicated space for the healthcare professional and patient by asking parents or support persons to leave the room for a portion of the visit. This allows for sharing more personal aspects of the social history or any mood concerns. When asking about mood, use simple sentence structure and avoid complex concepts like “anxiety.” Instead, ask if a patient is scared. If they say yes, you can ask follow-up questions. Perhaps the patient was just scared of getting a vaccine at the current appointment, or perhaps they are always scared when it gets dark at night and have trouble sleeping due to that fear.
To learn more about mental health in adults with Down syndrome, visit the NDSS website’s section on Practicing Inclusive Mental Healthcare of Individuals with Down Syndrome.
Realize That Behavior is Communication
Once you realize behavior change is communication, you can look to behavior to give you clues as to what could be going on with a patient who may be presenting in a non-traditional way. Is the patient trying to get something? To get out of something? In pain or distress? Anxious or tired? It is important to rule out medical causes of a behavior change before jumping to a social, environmental or psychological cause.[6] It is critical to ask about multiple potential causes to determine the root of the behavior. It is also important to recognize that a behavioral change can be multifactorial.[13]
To learn more about behavior in adults with Down syndrome, visit the NDSS website. DSMIG-USA also has a helpful tool for healthcare professionals, Evaluating Challenging Behaviors in Adults with Down Syndrome, that walks through potential causes of behavior change including a medical work-up to rule out an underlying medical cause. This resource can be found at Additional information is available in the Decline in Skills and Change in Behavior article.
Understand Guardianship and Alternatives to Guardianship
Providing patient-centered care to adults with Down syndrome demands an understanding of guardianship and alternatives to guardianship. Alternatives include supported decision-making and healthcare power of attorney.
Guardianship: This is a legal process in which the person with Down syndrome is declared legally incompetent and another individual is appointed by the court to make decisions on their behalf. This broad removal of an individual’s rights restricts their decision-making in healthcare, voting, financial matters, and other areas of life.[14]
Supported Decision-Making (SDM): SDM is an alternative to guardianship that places an adult with Down syndrome at the center of the decision-making process. Most people make decisions using informal SDM—consulting friends, family, and advisors before making an educated choice. Although not all states have formal SDM processes, SDM is recognized and endorsed by the American Bar Association, the Administration for Community Living of the US Department of Health and Human Services, the American Civil Liberties Union, and other national organizations.[5][15] For more information on SDM, visit the National Resource Center for Supported Decision-Making at https://supporteddecisionmaking.org.
Healthcare Power of Attorney: This is a legal document wherein an individual with Down syndrome identifies a person to make medical decisions on their behalf in certain situations. For example, if the individual with Down syndrome is intubated and sedated, the person granted power of attorney will make decisions on the individual’s behalf. There may be other times where, despite repeated attempts to help an individual with Down syndrome understand an important medical procedure (e.g., consent for a colonoscopy) or decision (e.g., whether to start chemotherapy), the individual is unable to demonstrate capacity to make that particular decision. In those cases, the person granted power of attorney will be the medical decision-maker on behalf of individual with Down syndrome.[16]
It is critical that healthcare professionals obtain informed consent from the person who is legally able to provide that consent. Healthcare professionals may be asked to recommend guardianship or alternatives to guardianship based on a patient’s ability for informed decision-making. Before recommending guardianship, supported decision-making should always be considered. As mentioned above, healthcare professionals should not assume that non-speaking adults lack decision-making capacity.[5][6][14] Patients may have the cognitive ability to make an informed decision but cannot express that decision in a way that can be clearly understood by others. In these situations, supported decision-making is particularly relevant and promotes the patient’s participation in their own healthcare.[5]
For more information about guardianship and alternatives, see Unique Primary Care Considerations for Adults with Down Syndrome.
Practice General Medicine
There are certain medical conditions that are more prevalent in individuals with Down syndrome (e.g., thyroid disorders, sleep apnea, etc.). See Common Health Conditions in Adults with Down Syndrome. However, disorders common in the general population still occur in patients with Down syndrome. It is important to avoid diagnostic overshadowing, which occurs when healthcare professionals consider a patient’s symptoms “just Down syndrome” and do not investigate or treat further. Remember your basic medicine and do typical workups to evaluate most likely diagnoses based on the patient’s symptoms. Keep in mind that individuals with Down syndrome may have atypical presentations of common conditions or exhibit behavioral changes due to an underlying medical condition. You may need to investigate a bit more with additional lab work or imaging based on an individual’s ability to share their symptoms, but don’t forget your bread-and-butter medicine.
It is important to remember to address age-appropriate health maintenance topics in addition to following the healthcare guidelines for adults with Down syndrome.[6] It is also important to have end-of-life discussions, as you would with any other patient. This includes talking about living wills, code status, healthcare power of attorney, and overall goals of care. Be aware of unconscious bias, especially around determinations of quality of life. In a 2011 survey of 284 people aged 12 and older with Down syndrome, 99% of them reported they were happy with their lives, 97% liked who they were, and 96% liked how they looked. The authors concluded that the “overwhelming majority of people with Down syndrome surveyed indicate(d) they live happy and fulfilling lives.”[17] When discussing treatment options, individuals with Down syndrome should have the same access as any other patient including life-sustaining care (organ transplant, chemotherapy) and end-of-life care (palliative care, hospice).[2]
Visit Accommodations
In addition to communication strategies, there are other tools you can use in your practice to provide person-centered care and ensure adults with Down syndrome feel welcome.
Extended Appointment Times
Primary care professionals with experience caring for patients with Down syndrome recommend one-hour visits for new patients, patients who have medical complexity, and those who require significantly more time to communicate. Individuals with Down syndrome may need more time to think about the questions asked and to provide answers, may move more slowly, and often have multiple health issues that need to be addressed. Follow-up appointments should be 30 minutes if possible. In some subspecialties, healthcare professionals may have much shorter visit times, which could result in caregivers doing most of the communication. This is not ideal for patient-centered care, so extended appointment times are encouraged when possible.[5][6]
Accessible Space
First-floor access with handicap parking is optimal for adults with Down syndrome who may have trouble ambulating, but this is neither essential nor practical for many medical offices. If handicap parking is available, point this out and offer to provide a letter in support of a handicap placard for your patients who have difficulty walking longer distances or safely crossing a parking lot (due to impulse control, elopement, or not understanding safety instructions). Provide clear signage directing patients from the parking area to any elevators and then from the elevators into the office, especially when you are in a larger building that could be confusing to navigate. There may be times where a patient is fearful of getting in an elevator and yet cannot use the stairs. In these cases, you might creatively find a private space in the lobby or other area that the patient can access. You could even do a limited exam in their vehicle.
Once in the office, it is again helpful to have clear signage and a sensory-friendly environment, especially for those with a dual diagnosis of autism. Be aware of what in the office could be overstimulating, such as intrusive sounds, smells, or lighting.[6]
A wheelchair scale is valuable in the clinic setting.[6] Ideally the scale should be built into the ground so that a patient does not have to navigate across the scale’s edge or over a ramp. If the scale cannot be ground-level, make sure there are handrails to provide extra support and reduce fall risk when getting on and off.
Many adults with Down syndrome are short, so it is helpful to have exam tables that can be adjusted low to the ground. This allows patients to transfer to the exam table safely. An alternative is a portable lift that can raise the patient up to table height.[6] Again, this may not be practical in all medical offices. In the absence of low tables or lifts, practitioners and staff may need to assist patients on and off the exam table.
Sensory Tools
It is helpful to have patient-centered sensory tools available such as fidgets, bubble machines, weighted blankets, or noise-cancelling headphones. These can be particularly helpful when the patient has a needle phobia or a dual diagnosis with autism. Often, these patients struggle with injections and blood draws, and as a result they may have anxiety and trauma related to visiting the doctor in general. These sensory tools can be used to distract patients and improve their comfort with blood draws, blood pressure checks, EKGs, and vaccines. Patient education materials on sensory strategies are available in the Resource Library.
Social Stories
To better prepare for a visit and reduce anxiety, social stories can be helpful. Social stories are simple narratives with visuals and step-by-step descriptions of what to expect from a particular situation. This technique helps patients prepare for anxiety-provoking settings such as unfamiliar buildings with new people and procedures such as blood draws, vaccines, dental work, Pap smears, and IV placement. You can also use social stories to prepare patients to come to your office for the first time. A “My First Visit” social story would be an illustrated guide to parking, entering the building, checking in with reception staff, sitting in the waiting room, entering the exam room, and meeting the practitioner. Many generic social stories are available online, or you could create one that is unique to your office.
Desensitization
Some patients with Down syndrome may have extreme anxiety about blood work or even coming into a medical office. For these patients one can offer desensitization, meaning progressive exposure to the anxiety-provoking stimulus. For example, if the patient is fearful of blood draws, you could start to make them more comfortable by having them just walk into the lab room on their way out. The next time they come to the office they may sit in the chair in the lab for a few minutes and meet with the phlebotomist in person. The next time, they could sit in the chair for a longer period and have the tourniquet placed on their arm. This process takes time but can gradually make patients more comfortable with anxiety-provoking situations. Patients can also participate in systematic desensitization therapy with a trained psychologist.
Pre-Visit Planning
Pre-visit planning can include social stories to teach the patient what to expect when they participate in an office visit, biological specimen collection, or imaging study. If a patient is particularly fearful of blood draws, IV placement or vaccines, a topical anesthetic cream can be ordered ahead of the visit and caregivers can apply this to the area where the needle will be placed 60 minutes before the appointment time. Just before a needle stick, a distraction device called a “Buzzy” (a vibrating plastic bee attached to a small ice pack) can be applied to the skin on the upper arm, above where the needle will be inserted, to interfere with pain signals. Technology can be an effective distraction, so you might recommend a patient bring a computer tablet to watch a show or play a game. If electronic devices are not available, a comforting item such as a favorite stuffed animal can be helpful. Although non-pharmacologic approaches are safest, there are some patients who have such significant anxiety with blood draws or other procedures that they require oral medication to receive care. A low dose of a benzodiazepine given 60-90 minutes before a blood draw or office visit can allow the patient to complete the visit or procedure. It is important to be aware of benzodiazepines’ sedative effects, so use them with caution. If a benzodiazepine must be used, have a wheelchair available if needed to safely transport the patient around the clinic and to and from their vehicle.
Another form of pre-visit planning is encouraging patients to complete a “health passport” and bring it with them. Creating this document gives the patient an opportunity to document their medical history outside of a time-sensitive medical appointment, clarify communication preferences, describe pain signals, and explain how they complete activities of daily living. The health passport is especially valuable when patients see new healthcare professionals, visit the emergency room, or are admitted to the hospital. You can access a printable health passport to share with patients here.
Telehealth Visits
Despite the accommodations listed above, some patients will still struggle to come into the office for a visit. This may be due to anxiety, past trauma related to medical care, or limited mobility. In these instances, it is very helpful to offer telehealth visits. Although these visits are not possible for every situation (such as when a physical exam is critical to the appointment), they can be useful for mental health follow-up visits and for older adults with Down syndrome and Alzheimer’s disease who have significant difficulty leaving the home. It is also a convenient option for those receiving palliative care or hospice services, for whom an office visit might be burdensome. If you decide to use telehealth in your practice, consider bringing the patient into the office for a physical exam at least once per year.[6]