Positive Approaches Journal, Volume 12, Issue 2
Stephens & Roseman | 12-24
Volume 12 ► Issue 2 ► August 2023
Interdisciplinary Care for Adults with Down Syndrome and Autism – Practical Considerations and a Brief Literature Review
Mary M Stephens, MD, MPH, Karin Roseman, LCSW
Individuals with Down syndrome are at an increased risk of a co-occurring diagnosis of autism (DS-ASD), although this has only been recently recognized. In this article, we will focus on a brief literature review and practical care considerations for adults with DS-ASD to maximize life-long well-being that may help patients, caregivers, and health care professionals work better together.
Individuals with Down syndrome (DS), caused by an extra copy of the twenty-first chromosome, are known to be at higher risk for a co-occurring diagnosis of autism (DS-ASD) (Hamner et al., 2020). Given the challenges in making the diagnosis of autism in this patient population, the diagnosis is often made later than in individuals with autism alone (Bull 2020). For young adults and their families and caregivers, this can be a very challenging time as there are far fewer resources readily available for adults. In this review, we will focus on transition to adult care models for individuals with DS-ASD and review common physical and mental health concerns. We will also briefly review the diagnosis of Down syndrome regression disorder (DSRD) as this emerging diagnosis has been described as the development of autistic-like features in teens and young adults with DS but is distinct from DS-ASD.
Transition to adult health care for people with DS-ASD is often a challenging time. Loss of school-based services, transitions to new medical providers, and changes to insurance benefits – often resulting in loss of wraparound behavioral health supports – have been likened to “falling off a cliff” (Steinway et al., n.d.). While evidence around health care transition for adults with DS-ASD is limited, it suggests that transition can be challenging and the gaps in services available lead some young adults with complex healthcare needs straddling the line between pediatric and adult systems (VanZant & McCormick, 2021; Varshney et al., 2022).
For young adults with DS-ASD this can be both an exciting and challenging time, a time for skill acquisition, development, and a desire for independence. Without demands of school and rigid scheduling some young adults thrive. There can still be downsides and challenges to parents and caregivers who have relied on consistency of services and schedules for so long, however.
In the adult healthcare system, primary care doctors may be more comfortable in managing some medical co-morbidities than pediatricians. When considering transition, think about primary care first. People with well controlled Celiac may not need an adult gastroenterologist, thyroid medication may not require endocrinology, and some adult primary care physicians may even be comfortable managing medications for anxiety, depression, and complex behavioral health needs, at least until an adult psychiatrist can be identified. Got Transition, a federally funded national resource center on health care transition from pediatric to adult care, offers tools for patients, caregivers, and providers to help navigate this transition. Resources can be accessed at www.gottransition.org (GotTransition.org, n.d.).
When making the transition to the new healthcare provider, try to engage some of these strategies for success:
- Does the patient do better with discussing the health history first or proceeding directly to the physical exam?
- Does the patient need to be present for the entire visit? While even for a telehealth appointment the patient needs to be present for some portion of the visit, can they leave after the physical portion while the paperwork and counseling is done? While certainly we want the patient to be engaged and learn new skills in the healthcare setting and the healthcare provider to talk/communicate with them directly, an incremental approach may work better for all involved. For example, does the visit have to start with vital signs if blood pressure is particularly challenging for the patient?
- Focus on the comfort of the patient – Do headphones, fidgets, taking a walk, listening to music, or stimming help the patient stay calm and focused and able to participate in the visit? Let the provider know when these behaviors are “ok” or when they mean the patient is starting to show signs of distress, and it’s time to shift gears or end the visit.
- Prioritize what needs to be accomplished in the visit and what can wait. Practical experience suggests that recovering from a “bad” encounter with a patient takes a lot longer than ending a visit early and trying on a better day, different time of day or via telehealth.
- Allow time for processing and communication and remember to charge up communication devices and bring them to the visit if they help the patient. If the diagnosis of DS-ASD was made later, has use of an augmentative and alternative communication system been considered?
Remember, not only is this health care provider new to you, but you are new to them too!
While it is important to share information specific to DS-ASD with the new provider, especially if they have limited experience in this area, it is important for providers to be cautious about diagnostic overshadowing. Healthcare providers should think broadly, and not attribute all symptoms or behaviors to DS-ASD. Especially when seeing a patient with new or troubling behaviors, think about a top to toe approach.
Looking at the healthcare experiences of those with ASD and intellectual disability, individuals with DS may be at greater risk for health problems than expected based on their age and specifically have a higher risk of seizure disorders, autoimmune conditions, sleep disorders, gastrointestinal conditions, and heart disease (Bishop-Fitzpatrick & Rubenstein, 2019). It’s unclear in terms of heart disease if the relatively protective benefit of having Down syndrome protects against the increased heart disease risk. Barriers to care cited by adult autistics with and without disabilities include fear and anxiety, need for additional processing time, sensory issues and difficulty communicating with health care providers. (Raymaker et al., 2017)
Based on adult guidelines for individuals with DS, routine screening in this age group should include thyroid bloodwork (TSH) every 1 – 2 years. Screening for diabetes, typically a blood test called an HbA1c, should begin in the 20s for those with risk factors and be repeated every 2 – 3 years. For those without risk factors such as overweight or obesity, consider starting in the 30s. Monitor for signs of celiac disease (loose stools, cramping and constipation) and screen with blood tests if they are present. (Tsou et al., 2020)
Evidence-based reviews from the Down Syndrome Medical Interest Group-USA (DSMIG-USA) adult health work group focus on additional areas of importance for the care of adults with DS and include (G. Capone et al., 2020; G. T. Capone et al., 2018):
- While the risk of atlanto-axial and hip instability decreases over time, there may be an increased risk of early neck and hip arthritis that clinicians should be aware of.
- The risk of hearing impairment approaches 70% in adults with DS, and there is an ongoing need for testing, treatment, and speech therapy.
- While we have a lot to learn about overweight and obesity, the 20s can be a particularly challenging time for young adults with DS and patients and caregivers need to think about strategies to mitigate this. In practical terms, what non-food rewards can be put in place to support positive behaviors, who is tracking what the young adult with DS eats in the community with support staff? How can we best partner with patients to educate them and help foster healthy nutritional choices? How can we promote enjoyable physical activity?
- As young adults age out of pediatric systems and caregivers may shift from parents to siblings or staff, patients need to continue to be monitored based on established guidelines for congenital heart disease and/or acquired heart valve disorders. It’s important to ensure that medical history in general transitions with the patient, and new caregivers are aware of prior diagnoses and treatments.
- Dysphagia or trouble swallowing remains more common in adults with DS along with reflux/GERD. Families and caregivers should alert the medical team about coughing or other mealtime symptoms, spit ups, new tooth grinding, or recurrent pneumonia.
- Referral to speech and occupational therapy may be a consideration although one might have to look a little harder to find adult therapists with the skills to meet the needs of the patient.
- Adults with DS remain at increased risk of sleep apnea (OSA). Although no formal screening guidelines exist for adults, symptoms of OSA can include both symptoms related to sleep like snoring and gasping and daytime symptoms including irritability, decline in performance and daytime sleepiness. Home sleep studies that feel less intrusive to patients may be an option to consider for making the diagnosis. Modalities other than CPAP or Bipap are emerging, such as the hypoglossal nerve stimulator that may make treatment a possibility for adults with DS-ASD when it was not before.
Early Dementia is common in DS and routine screening is recommended to begin at age 40 using the National Task Group – Early Dementia Screening Detection (NTG-EDSD) tool. Though some experts recommend screening as early as age 35, symptoms of cognitive decline before the age of 40 are unlikely to represent dementia and other causes should be thoroughly investigated. Even with a decline after the age of 40, other co-morbidities should be ruled out – think UTI, Vitamin B12 deficiency, hearing and vision loss, polypharmacy, and mood disorders such as depression, anxiety, and OCD. In individuals with DS-ASD also consider things that may be more common to them specifically such as hidradenitis or yeast infections of groin or armpits or constipation.
Down syndrome regression disorder
Historically described by some as late onset autism in individuals with DS, Down syndrome regression disorder (DSRD) is now felt to be a distinct clinical entity (Rosso et al., 2020). Previously described as DS disintegrative disorder or unexplained regression in DS, it occurs in individuals with DS between approximately 10 – 30 years of age (Santoro et al, 2022 and Rosso et al., 2020). Features of DSRD include a subacute loss of skills across multiple domains (language, communication, cognition, executive function, and behavioral and adaptive skills) (Santoro et al., 2022). New onset stereotypies such as rocking, hand-flapping, and waving and other autistic features, are hallmarks of DSRD (Santoro et al., 2022).
DSRD is a distinct disorder from autism, however, and efforts are underway to create more explicit diagnostic criteria and to better understand the etiology and optimal course of treatment. Neuroimmunology dysfunction is one hypothesis being explored given evidence in some cases of responsiveness to intravenous immunoglobulin (IVIG) (Santoro et al., 2022). The role of psychological stress, while commonly identified in individuals with DSRD, is unclear (Rosso et al., 2020).
Making the diagnosis in adults and behavioral health considerations
As the increased risk of autism in individuals with Down syndrome has only been more recently recognized, young and middle-aged adults with DS may not have been diagnosed in childhood. Caregivers and healthcare professionals should consider this diagnosis, particularly in individuals who struggle with communication and challenging behaviors. A retrospective review of developmental history, observations in school and the community, and reports from family, caregivers, and therapists may support the diagnosis. Formal diagnostic or neuropsychological testing may be harder to find in adult healthcare systems, but potential resources include Down syndrome clinics, offices of vocational rehabilitation, autism centers of excellence, and academic medical centers. While the absence of a diagnosis of autism should not preclude clinicians from addressing communication challenges or behavioral issues, a formal diagnosis may be worthwhile pursuing as it may open the door to additional services and help individuals with DS-ASD get the care and support they need.
Consider these behavioral approaches to treatment (McGuire, D. E., & Chicoine, B. (2021):
- Applied behavior analysis or ABA has been shown to be effective in teaching skills to people with autism and all sorts of developmental disabilities. ABA uses a variety of techniques to shape a person’s behavior and is rooted in the idea that rewards and consequences can teach specific and measurable skills.
- Help with sensory issues by engaging support from a trained Occupational Therapist to complete a sensory integration assessment.
- Provide structure and consistency through routines, pictures or visual cues and schedules, and consistency in the way tasks are done.
- Transitions from one activity to another can be challenging; be sure to provide warnings and explanation when it is time to transition.
- Utilize social stories to teach about social situations and learn new social skills.
- Prevent information overload, provide time for processing of information and present information in a concrete form (such as pictures).
- Medications are sometimes also used to help manage challenging behaviors such as aggression and self-injurious behaviors.
Putting it all together: A case study
In the case of a 32-year-old male with DS-ASD, the parent came in with concerns for change in functioning over the course of 1-2 years. Per parent (who – of note – is a psychologist) changes have been a subtle and gradual functional decline. Parent reported that she has taken a lot of care for patient’s mental health and feels there is a biological cause. During the patient’s visit mom expressed concerns for patient’s locomotor functioning, particularly in navigating curbs and stairs, increased isolation and self-talk, increased perseveration and rigidity, and sleep concerns.
Based on these concerns and physical exam, patient was referred for additional medical workup including x-rays, and follow up with ENT/Audiology and Sleep Medicine. X-Rays were recommended due to gait abnormality and a small left knee effusion. Patient was also found to have right-sided acute serous otitis media and started on Prednisone, as well as referred to ENT/Audiology. His hypersomnia was the impetus for a referral to sleep medicine. In addition to these medical follow ups, his behavioral health medication was adjusted. It was discussed with the parent that symptoms were likely multifactorial but not likely related to Dementia given his age.
Take Home Points: Adult Care
Don’t forget to consider that the diagnosis of autism may have been missed in individuals with DS during childhood and making the diagnosis can lead to better support and care of the individual.
Adults with DS-ASD may benefit from adaptions in the medical visit, but don’t forget that they are still capable of learning and may acquire new skills over time such as being able to tolerate blood draws and immunizations without drama or sedation. As they age, however, expectations may also need to change if there is a functional decline. Consider the use of telehealth as a way to allow adults to better access care and allow for 1:1 time for both patients and caregivers.
As technology has advanced, and especially if DS-ASD has been unrecognized earlier in childhood, consider evaluation or re-evaluation for assistive technology to decrease communication barriers and foster independence.
Primary care providers may be able to prescribe psychotropic medications if necessary to help address challenging behaviors in addition to recommending other therapeutic modalities.
As individuals with DS-ASD age, they may face transitions in caregivers as well as functional decline. It’s important for families and non-family caregivers to communicate and plan for these inevitable changes in order to best support the individual with DS-ASD.
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Dr. Mary Stephens is an Associate Professor in Family and Community Medicine at Jefferson. She is a family physician with 25+ years of experience in patient care and teaching. In 2018, she returned to Jefferson to help launch a new primary care model for teens and adults with complex childhood onset conditions.
Karin Roseman is a licensed clinical social worker with over 10 years of experience working with children and adults with complex medical needs. Prior to joining the Jefferson team in 2021, she worked as a care coordinator for a large Medicaid managed care plan in Philadelphia, providing support to Medicaid members with complex medical needs, advocating to the plan to ensure that they received the services and medical care that they needed.
Mary M. Stephens, MD, MPH
Thomas Jefferson University, Department of Family and Community Medicine