Introduction
Mental illness does occur in individuals with Down syndrome, more commonly than in those without Down syndrome. This article will cover the medical approach to the individual with Down syndrome who presents with behavioral change and possible mental illness.
Behavior itself is a form of communication and, in someone with speech difficulties, may become the primary form. There may be multiple causes for behavioral change (Table 1), and it is common for more than one to occur at the same time. Left untreated, these can cause or exacerbate mental illness.
Table 1: Common causes of changes in behavior
| Cause | Example |
|---|---|
| Abuse | Bullying, physical abuse, sexual abuse. |
| Change in routine or environment | Moving home, changing support organization. |
| Grief | Loss of a significant person (e.g., teacher, carer, support person) |
| Medication | Side effects can include agitation and insomnia. |
| Mental illness | Most mental illnesses cause behavioral changes. |
| Speech difficulties | Difficulties with expressive language are common in individuals with Down syndrome. Others’ inability to understand their language may lead to anger or frustration. |
| Physical illness | Sleep apnea can cause irritability, depression, and (in severe cases) psychosis. |
Table 2 lists recommendations for medical providers, adapted from the Developmental Disability Guidelines.[1]
Table 2: Clinical approach to assess and manage behavior changes in individuals with Down syndrome[1]
- Evaluate the safety of the individual with Down syndrome and those supporting them
- Obtain behavioral history (onset, frequency, duration, setting and severity)
- Consider possible environmental causes (changes, abuse)
- Review assessment reports (e.g., communication, occupational therapy, psychology)
- Perform a medical and psychiatric exam
- Manage and refer as necessary
- Monitor and review effectiveness of treatment and need for continuation
How Common is Mental Illness in Down Syndrome?
Most mental illnesses occur more commonly in individuals in Down syndrome. The current literature in this area is summarized in Table 3, although specific statistics should be interpreted with caution. Most prevalence estimates have been derived from clinic samples, which may not be representative of persons with Down syndrome living in the community. More robust, larger-scale research is needed.
Table 3: Prevalence of common mental illnesses & neurodevelopmental disorders in individuals with Down syndrome
| Condition | General Trend (Individuals with Down syndrome vs. Individuals without Down syndrome) | Difference in Prevalence (Individuals with Down syndrome vs. Individuals without Down syndrome) | Study design and source data |
|---|---|---|---|
| Anxiety disorders | Higher | 2.3x higher | Systematic review[2] |
| Attention deficit hyperactivity disorder | Higher[8][9] | Population-based cohort[8] Clinic-based cohort[9] | |
| Autism | Higher[8][9] | Population-based cohort[8] Clinic-based cohort[9] | |
| Bipolar disorder | Lower | Large retrospective case-controlled study[4] Prospective cohort study[6] | |
| Depression | Higher | Systematic review[3] | |
| Eating disorders | ? | Insufficient data | |
| Obsessive-compulsive disorder | Higher | 20x higher | Large retrospective case-controlled study[4] |
| Post-traumatic stress disorder | ? | Insufficient data[7] | |
| Psychosis Schizophrenia | Higher | 3.87x higher 1.87x higher | Large retrospective case-controlled study[4] Case-control study [5] |
Common Physical Illnesses in Adults with Down Syndrome
Some physical illnesses (Table 4) are more common in individuals with Down syndrome and should be specifically screened for when an individual with Down syndrome presents with behavioral change and/or possible mental illness.
Table 4: Common physical conditions to consider
| Physical Condition |
|---|
| Thyroid disease Sleep apnea Gastrointestinal problems (constipation, gastro-esophageal reflux) Celiac disease Epilepsy Dental disease Hearing or vision impairment |
Thyroid dysfunction is certainly more common in Down syndrome and can contribute to, or even cause, depression. Prasher[10] found that 35% of a cohort of individuals with Down syndrome had hypothyroidism.
Sleep apnea is also very common in Down syndrome, but individuals and their families can be reluctant to pursue investigation.[11] However, untreated sleep apnea has been demonstrated to cause severe depression,[12] and is important to rule out. Therefore, individuals with Down syndrome, their families and support people may require extra support in investigating and treating sleep apnea.
Gastrointestinal problems are more common in Down syndrome than in people without Down syndrome. These include constipation and gastro-esophageal reflux disease.[13]
Celiac disease is also more common and can present at any stage in life. It commonly presents with gastrointestinal symptoms, but it can present without any gastrointestinal symptoms, and depression or skin manifestations can be the first sign.[14]
Epilepsy is more common in Down syndrome than in individuals without Down syndrome; the prevalence is approximately 10% in children and younger adults.[15] Prevalence increases further after age 35 and new onset of seizures is often associated with onset of Alzheimer’s disease in adults over age 45.
Dental problems and gum disease are also more common in Down syndrome and should be actively considered.[16]
Sensory impairments, including hearing and/or vision loss, are more common in Down syndrome and should be actively excluded. Otitis media is common, and when chronic can impair hearing. Keratoconus and cataracts are both common in individuals with Down syndrome and can cause vision loss, so regular eye checks are also important.
Before making a diagnosis of mental illness, many common conditions must be ruled out. For more detail, see Common Health Conditions in Adults with Down Syndrome. Other causes to consider are environmental stressors or traumatic events. Individuals with Down syndrome often have difficulty communicating, so it may take careful questioning, in collaboration with family members and carers, to find the cause of their distress. Sadly, individuals with Down syndrome are more vulnerable to abuse of all kinds, such as bullying at school or in the workplace. These experiences can be devastating and easily missed. It is also possible that a traumatic event, such as losing a loved teacher or support worker, can have profound effects on the individual with Down syndrome.
The Behavioral Phenotype: Is it Down Syndrome or Mental Illness?
It is essential for medical and mental-health professionals treating individuals with Down syndrome to be familiar with the common characteristics of this population. The goal is to avoid diagnostic overshadowing, which occurs when new behaviors or changes in mood are mistakenly attributed solely to Down syndrome, leading to missed mental health diagnoses.[17][18] Conversely, a mental illness may be diagnosed in error if practitioners are unaware that many adults with Down syndrome do certain things differently. For example, many individuals with Down syndrome use audible self-talk as a coping mechanism to process emotions and navigate confusing situations in their daily lives. A professional unfamiliar with this behavior might misdiagnose the individual as experiencing psychosis. While self-talk is generally adaptive, changes in frequency, tone, or content may signal underlying mental health concerns.
Many individuals with Down syndrome also have a strong visual memory, often described as photographic.[17] This can lead them to recall past events in great detail, even years later. Although this vivid memory can be a strength, it can also lead to emotional distress if the recalled event was negative or traumatic. Individuals with Down syndrome also have difficulty recognizing the passage of time. This, combined with vivid memory recall, may cause them to relive past events as though they happened yesterday. Importantly, their distress should not be dismissed because others believe they should have moved beyond the event by now. Mental health counseling can help individuals with Down syndrome process their emotions, regardless of when the event occurred.
In the book, Mental Wellness in Adults with Down Syndrome, Drs. Chicoine and McGuire introduce the concept of the “groove” – likened to the grooves of a record– which refers to the preference for routine, repetition, and sameness in individuals with Down syndrome (i.e., getting “stuck in a groove”).[17] Groove behaviors allow individuals to complete daily tasks independently, but may be misdiagnosed as obsessive-compulsive disorder (OCD) if the intent and benefits of the behavior are not understood. If the groove does not disrupt the individual’s daily life, it should be supported even if it is inconvenient and an annoyance to others. If, however, the groove becomes rigid, impairing the performance of required tasks or causing extreme distress when routines are interrupted, further evaluation is warranted.
Many individuals with Down syndrome often display heightened sensitivity to others’ emotions. They are often the first to comfort someone when they sense stress, sadness, or frustration. Clinical experience suggests that adults with Down syndrome may also mimic the negative behaviors of those with whom they live or spend significant time. It is essential to assess the family’s stressors and/or mental health diagnoses to ensure that the individual with Down syndrome is not mirroring another’s behaviors or symptoms.
Individuals with Down syndrome are often stereotyped as being stubborn. This may manifest as extreme slowness or refusal to complete tasks. In adulthood especially, this behavior may be exacerbated by the individual’s desire for more independence and autonomy in decision-making.[17] Before assuming opposition or defiance, one should explore these behaviors and discuss with the individual the root cause. If, however, the individual suddenly refuses to leave the house for preferred activities, moves more slowly through routines performed easily in the past, or appears physically “stuck” in postures, further evaluation may be required to rule out underlying physical or mental health conditions such as Down Syndrome Regression Disorder (DSRD).
Mental health diagnoses in individuals with Down syndrome are often based on caregiver reports of noticeable behavioral changes. It is crucial to explore how the person’s current behavior differs from their baseline by discussing what they were like “before” compared to “now.” A comprehensive medical evaluation should be conducted to rule out common medical conditions and identify any physical pain or discomfort that might explain the changes. Simultaneously, a referral to a mental health professional experienced in working with individuals with intellectual disabilities is recommended to ensure appropriate assessment and intervention. For additional information, see the article Decline in Skills and Behavioral Change in Adults with Down Syndrome. More information on diagnostic criteria can be found in The Diagnostic Manual – Intellectual Disability (DM-ID-2).[20] This manual was developed to accompany DSM-5 and to assist with accurate psychiatric diagnosis in people who have intellectual disabilities, including individuals with Down syndrome.
Presentation of Mental Illness in Adults with Down Syndrome
Mental illness in individuals with Down syndrome may present with behavioral changes, temperament shifts, loss of interest in preferred activities, or skill regression. Table 5 lists general causes for concern that should prompt further investigation. In the sections that follow, we will cover specific aspects of the common mental illnesses in Down syndrome.
Table 5: Changes requiring further investigation
| Symptom | Change |
|---|---|
| Sleep | New-onset insomnia or hypersomnia |
| Appetite and oral intake | Reduced |
| Concentration | Reduced |
| Social contact | Reduced; Withdrawal from known family and friends |
| Interest in preferred activities | Reduced |
| Unusual behavior | New onset |
Autism and Attention-Deficit Hyperactivity Disorder
Autism and attention deficit hyperactivity disorder (ADHD) are both more common in Down syndrome.[8][9] In this section, we review the presentation, diagnosis and management of these two conditions.
Autism: Autism can present differently in individuals with Down syndrome and may not be detected in childhood. Compared to individuals without Down syndrome, this leads to diagnoses at later ages. Co-occurring autism and Down syndrome is associated with more severe intellectual disability, lower levels of adaptive function and higher rates of maladaptive behaviors.[23] Individuals with Down syndrome and co-occurring autism tend to appear more sociable than those who have a sole diagnosis of autism.[24]
Previously, DSM-IV specified that autism could not be diagnosed as comorbid with Down syndrome. Now, since the advent of DSM-5, this case been corrected and autism and Down syndrome can co-occur.[25] This means that only in recent years has autism has been formally diagnosed in individuals with Down syndrome, so the diagnosis may have been missed in adolescents and adults.
The diagnosis of autism in individuals with Down syndrome still requires the same DSM-5 criteria be met, including the onset of symptoms in the early developmental period. It is clinically a challenging diagnosis to make, because it is necessary to distinguish the autistic features from the symptoms of mental illness. Notably, all mental illnesses are also more common in autism. The management of autism used in individuals without Down syndrome still applies and is helpful in those with Down syndrome.
Attention-deficit hyperactivity disorder (ADHD): ADHD often can be overlooked in an individual with Down syndrome and confused with features of Down syndrome itself. Yet it is an important condition to identify, to allow medical management and better quality of life. ADHD presents similarly in individuals with and without Down syndrome, with persistent features of poor attention, hyperactivity, and impulsivity that interfere with the person’s ability to function.[25] An individual with Down syndrome and untreated ADHD may have great difficulty engaging in meaningful activities or establishing relationships.
Depression and Bipolar Disorder
Depression: Common signs of depression in adults with Down syndrome include increased emotionality, withdrawal from preferred activities, and altered sleep or eating habits. Depression may also present as irritability, being easily agitated, or avoiding favorite people. Although feelings of worthlessness are expressed less frequently, caregivers often describe a shift toward more negative self-talk.
Grief is a common trigger for depressive symptoms. One can grieve not only death, but other life transitions such as graduating from school, a sibling moving out, parents’ divorce, or changes in staff. Delayed grief is prevalent in individuals with Down syndrome, with feelings surfacing six months or more after a loss.[21] Adults with Down syndrome may attribute current sadness to a past loss, bundling multiple experiences into one explanation. It is important to help the individual recognize that even though the emotions feel similar, the cause of the emotions is different and should be treated accordingly.
Bipolar disorder: Although bipolar disorder is less common in individuals with Down syndrome compared to individuals without Down syndrome,[4] it is still an important condition to consider. During depressive episodes, an individual with Down syndrome may appear lethargic and present with the irritability and avoidance mentioned previously. During manic episodes, which often involve overstimulation and hyperactivity, the individual will typically not present the risky behaviors (e.g. increased sexual behavior, increased spending) observed in individuals without Down syndrome. Overstimulation may appear as increased agitation, accompanied by more aggressive language and behaviors. Hyperactivity may present as silly behaviors, excessive laughter, or laughter at inappropriate times.
Anxiety Disorders
Individuals with Down syndrome may not be able to articulate feelings of anxiety or panic, and may instead demonstrate anxiety through avoidance behaviors, repeated questioning about upcoming events, or heightened sensitivity to social situations. Clinical experience has shown that social and situational anxieties are common. Individuals with Down syndrome may fear severe weather, great heights, open spaces, or large gatherings. Often, individuals will become stuck on conversation topics involving their fear. Although it is normal to worry in these situations, an anxiety disorder could be present if these worries or fears have kept the person from performing required tasks, attending work, or engaging in favorite social activities.
Obsessive-Compulsive Disorder
While routines are often a strength for individuals with Down syndrome, routines that disrupt daily life or become rigid may indicate obsessive-compulsive disorder (OCD). Individuals with Down syndrome may not feel distressed by compulsive behaviors, but family members may report increased difficulty transitioning between tasks.[17] On the other hand, individuals with Down syndrome may become very distressed when their compulsive behavior is interrupted or the caregiver attempts to block the behavior altogether. When a compulsive habit becomes dangerous or socially inappropriate, it may signal that the individual with Down syndrome has moved beyond their healthy groove and into problematic behavior. Clinical experience has shown that individuals with Down syndrome often obsess over people in their lives, either by persistently talking about them or fixating on something negative which that person did to them. They may frequently mention this individual at inappropriate or unexpected times. Obsessive-compulsive behaviors can often be managed through redirection, education about socially-appropriate interactions, or scheduling times during the day to accommodate the behaviors.
Post-Traumatic Stress Disorder
It was previously believed that individuals with Down syndrome were at an increased risk of developing post-traumatic stress disorder (PTSD) due to their strong visual recall; however, recent research suggests this may not be the case.[4] It is also noted that PTSD may be underdiagnosed in this population due to individuals with Down syndrome having increased difficulty disclosing a history of trauma. Often, symptoms of anxiety or depression may be treated without fully understanding the cause. Clinical experience suggests that individuals with Down syndrome who were adopted from an orphanage, experienced sexual assault, or endured prolonged bullying may be at risk for PTSD. In these cases, trauma-focused treatment can enhance coping skills and provide calming techniques for when emotions related to the event are triggered.
Psychosis
The diagnosis of a psychotic episode requires the presence of either hallucinations, delusions, or disordered thought. It is these first two that occur most commonly in people with Down syndrome who develop psychosis, but it can be difficult to distinguish these from some characteristics considered normal in Down syndrome. These can be complex situations to tease out diagnostically and ideally should involve referral to a psychiatrist if ‘red flags’ or certain scenarios of concern arise, as detailed below.
The first scenario occurs when the talking to oneself out loud (‘self-talk’) that is common (but not universal) in Down syndrome occurs for the first time in an adolescent or adult who never talked to themselves previously; or, when the self-talk changes in nature to being responsive to hallucinations. Normal self-talk can include thinking out loud, repeating conversations or situations the individual has experienced, or reciting words from songs or movies. Self-talk is useful for remembering things, processing information, or providing stimulation when the individual is looking for greater social interaction. Red flags that may indicate the experience of hallucinations include becoming increasingly preoccupied with self-talk at the expense of real relationships; being unable to stop talking to invisible people even when in the presence of friends or family who are attempting to communicate; the content of the self-talk does not resemble any familiar themes; is a new phenomenon; or if the observer has the distinct impression that the person is seeing or hearing someone who is not there. Lastly, the development of other symptoms such as poor sleep, unusual behaviors and inability to engage in usual tasks are also red flags for hallucinations.
The second scenario occurs when the normal, but often very vivid, fantasy life of someone with Down syndrome can cross into delusional beliefs, as part of a psychotic episode. It is not unusual for an individual with Down syndrome to fantasize that he or she is in a relationship with someone famous (e.g., a movie star). Their fantasy might include talking frequently about the movie star, looking up the movie star on the Internet, and knowing all sorts of facts about the movie star. It might also include fantasizing that the movie star is a boyfriend or girlfriend, and that they might get married one day. This level of fantasy is not a concern. Red flags for it becoming a delusional belief are if the individual is increasingly obsessed with the topic at the expense of real relationships, or if a previously moderate interest starts to take over their lives and they are unable to participate in their usual activities. If this escalation is also associated with sleep disturbance or new and unusual behaviors (such as planning travel to meet the movie star), then psychosis should be considered.
Catatonia and Down Syndrome Regression Disorder
Extreme slowing has been noted in some individuals in various cohorts. Researchers [5] observed that 17% of their clinical cohort had various psychiatric diagnoses (psychosis, depression, anxiety), but excessive slowness and long latencies in answering questions was also noted. More recently, this type of slowness has received greater attention and diagnoses of catatonia have been made, as these individuals meet criteria for catatonia. Catatonia is not well understood, even by psychiatrists, so it can be challenging to find help for people with this condition. Catatonia may be caused by underlying physical or mental illness. In individuals with Down syndrome, catatonia has been observed to improve after immune-based therapies, suggesting it may be due to an underlying physical disease process. When catatonia occurs in combination with a severe reduction in functioning and communication, it is now diagnosed as Down Syndrome Regression Disorder (DSRD). There is a growing literature on this condition and there are now consensus diagnostic criteria, suggested investigations to rule out differential diagnoses, and treatment strategies.[22] More information can be found in the Down Syndrome Regression Disorder: Clinical Features, Diagnosis and Therapeutics article.
Alzheimer’s Disease
Alzheimer’s disease has an earlier onset in individuals with Down syndrome than in those without Down syndrome. Roughly 50% of individuals with Down syndrome will have Alzheimer’s disease in their early 50’s, with first signs often showing after age 40. However, it should also be noted that not all individuals with Down syndrome will develop Alzheimer’s disease at this age, and that Alzheimer’s disease is very rare under age 35. More information can be found in the Alzheimer’s Disease in Adults with Down Syndrome article.
Recommended Investigations
Further investigations are necessary to exclude common physical conditions that may present as symptoms of mental illness in individuals with Down syndrome. These are listed in Table 6 below.
Table 6: Recommended investigations
| Investigation | Conditions to Exclude |
|---|---|
| Full blood count | Anemia |
| Urea & electrolytes | Kidney function |
| Thyroid function | Hypo- or hyper-thyroidism |
| Celiac serology | Celiac disease |
| Sleep study | Sleep apnea |
| Dental examination or imaging | Dental abscess, periodontitis |
| Abdominal x-ray | Constipation, volvulus, obstruction |
| Endoscopy | Gastro-esophageal reflux disease, peptic ulcer |
| MRI brain | Structural lesions |
| EEG | Seizures |
For more information, see the articles Common Health Conditions in Adults with Down Syndrome and Decline in Skills and Behavioral Change in Adults with Down Syndrome.
Psychological Therapies
The mode of therapy for adults with Down syndrome will vary depending on their needs, individualized goals, and biopsychosocial history. In the publication, Practicing Inclusive Mental Healthcare of Individuals with Down Syndrome[26], it is noted that multiple studies have found cognitive behavioral therapy (CBT) and dialectical behavioral therapy (DBT) “to be feasible and/or effective for individuals with mild to moderate intellectual disabilities.” Before providing treatment, it is important to first provide psychoeducation around mental health diagnoses and symptoms as the individual may not be familiar with these concepts. Mental health counseling for individuals with Down syndrome tends to be more directive than counseling for those without Down syndrome, including solution-focused, strength-based, and positive-psychology approaches. For adults that may be reluctant or unable to participate in talk therapy, art and music therapy are also available.
A unique aspect of mental health therapy for adults with Down syndrome is the necessity of a team-based approach. In the initial session with the individual and their caregiver(s), the topics of confidentiality, consent, and additional permissions should be explained. Counseling sessions should be interactive, engaging, and tailored to the individual’s communication needs. Therapists should consider multiple ways in which caregivers can be involved in the counseling process to support the adult’s care and skill development outside of any scheduled therapy sessions. Along with increased caregiver involvement, clinical experience has shown that incorporating certain accommodations into the counseling process improves outcomes. Therapists can offer assistive communication devices, personalized coping-skills charts, mood/behavior trackers, or videos offering step-by-step instructions for calming activities. A combination of therapeutic intervention and skills development is ideal. In consultation with their therapy team, individuals with Down syndrome can improve their relationship skills, emotional literacy, and resilience.
Meaningful opportunities and healthy relationships are essential for the mental health of adults with Down syndrome. In this context, the therapist may also serve in a case- management role to assist the client with Down syndrome in connecting with community resources, disability programs, and social opportunities. This approach can proactively equip adults with Down syndrome to manage current stressors and navigate future situations. Psychological therapies can be delivered by a variety of mental health professionals including psychologists, psychiatrists, social workers, counselors, and psychiatric nurses.
In conjunction with therapies for mental illness, behavioral and sensory therapies can be helpful. Behavioral therapy considers the function of a behavior, if it is harmful, and how it can be modified. Examples include when a vivid fantasy is taking over everyday life or when anxiety is causing distress and rigidity. Behavioral approaches are also helpful in individuals with Down syndrome who have co-occurring autism. Behavior therapy is a widely-used approach in counseling. However, in some cases, a board-certified behavior analyst may be called on to deliver treatment in community or home settings. Sensory therapies, often delivered by occupational therapists, consider the sensory sensitivities and preferences of a person and how they can modify negative behaviors.
Medications
Principles of Psychotropic Prescribing in Down syndrome
- Consider whether additional cardiac investigations are needed, before prescribing
- If possible, avoid medications whose side effects include weight gain
- Prescribe according to diagnosis, not symptoms
- Start at half the general recommended dose and titrate slowly
- Unusual responses and side effects are more common
- Monitor for response, discontinue if ineffective
- Conduct metabolic and other recommended monitoring, according to the class of drug
Whilst there is limited literature on the use of psychotropics in individuals with Down syndrome, it tends to suggest that these drugs have equal efficacy. However, medication side effects and unusual responses may be more commonly encountered, especially at higher doses.[27] These may include sedation, when alertness would be an expected side effect, or aggressive food-seeking when this is not observed in individuals without Down. Interactions with and side effects of existing medications should also be considered.
Table 7: Additional notes on psychotropic selection
| Condition | Medication Class | Example* | Notes |
|---|---|---|---|
| Depression and Anxiety | SSRI | fluoxetine, escitalopram | Effective, well tolerated. |
| SNRI | venlafaxine | Effective, but a higher rate of side effects than in those without Down syndrome | |
| TCA | Amitriptyline | Effective, but a higher rate of side effects than in those without Down syndrome | |
| Mirtazapine | For mild-moderate depression only; side effects include weight gain, sedation | ||
| Bipolar disorder | As per individuals without Down syndrome | Requirement for blood monitoring and risk of toxicity may make lithium impractical. | |
| Obsessive compulsive disorder | SSRI | fluoxetine, escitalopram | As effective as in those without Down syndrome.[28] |
| SSRI + atypical antipsychotic | As effective as general population; side effects include weight gain.[28] | ||
| Psychotic disorders | Atypical antipsychotics | Risperidone Lurasidone Olanzapine Quetiapine | Weight gain is a common side effect and difficult to reverse. Additional metabolic and endocrine side effects require regular blood monitoring. |
| Catatonia | GABA-ergic benzodiazepine | Lorazepam | First-line treatment; beware sudden cessation due to risk of withdrawal syndrome. Tolerance (the need for increasing doses to achieve the same effect) is not common for this indication. |
| ADHD | As per individuals without Down syndrome | Stimulants and atomoxetine effective in clinical practice. Guanfacine has been described as helpful[27] | |
| Autism irritability | Atypical antipsychotics | Risperidone Aripiprazole | Some evidence to suggest efficacy, but avoid where possible due to side effects |
Key: * = Example agents are listed for meaning, however unless stated, there are no advantages between those listed and those not listed; SSRI = Selective serotonin reuptake inhibitor, SNRO selective noradrenergic reuptake inhibitor; TCA=tricyclic antidepressant; GABA= Gamma-aminobutyric acid).
When to Refer
There are three situations in which an individual with Down syndrome should be referred to a specialist provider for further assessment and management: 1) when further assistance is required to obtain necessary physical investigations, 2) when severe mental illness is suspected, or 3) there is a heightened risk to self or others.
For example, if it is not possible to obtain the necessary blood tests or a sleep study to rule out underlying physical conditions, referral to a healthcare provider that can facilitate further investigation is necessary. If the likely diagnosis is severe mental illness (e.g., psychosis, OCD, catatonia, DSRD, or bipolar disorder) the management of these conditions is usually more complex, so psychiatric review is warranted. Finally, self-injury is more common in those with Down syndrome and autism-spectrum disorder, so it is critical to prevent permanent impairment (such as retinal detachment or brain injury from head-banging). In extreme cases, urgent referral may be necessary. Injury to others can also occur and needs to be considered when assessing overall risk.
Mental Health Promotion
Clinical experience suggests it is often difficult for adults with Down syndrome to find meaningful ways to spend their time when transitioning from school age to adulthood. Maintaining an active lifestyle, fostering social connections, and encouraging independence are essential for mental well-being. It has become apparent in clinical practice that adults who are more isolated and disconnected from their peers have increased difficulty maintaining mental health. Therefore, efforts must be made to seek out social, athletic, educational and vocational opportunities throughout the lifespan.
Table 8: Healthy living checklist
| Area | Examples |
|---|---|
| Meaningful opportunities | Post-secondary education, volunteering, vocational training, employment. |
| Healthy relationships | Education around boundaries, how relationships develop, romantic relationships, and sexuality. Social opportunities to develop these relationships. |
| Physical health | Group fitness, personal training, nutrition and sleep education. |
| Routine and structure | Use of calendars, daily checklists, timers, consistent routines. |
| Life-long learning | Continued opportunities to develop independent living, self-advocacy, and coping skills. |
Meaningful relationships and connections benefit everyone, including individuals with Down syndrome. Adults with Down syndrome often need guidance on recognizing healthy relationships and developing strong friendships, so teaching them about the stages of relationship development and appropriate boundaries can be beneficial. Many adults with Down syndrome express interest in having a romantic relationship, including the desire to get married. Regardless of the adult’s interest in romantic relationships, it is reported that 1 in 3 adults with intellectual disability suffers sexual abuse in adulthood29, therefore sexuality education in this population is both informative and essential to their safety.
Adults with Down syndrome should be treated with the respect and autonomy afforded to any adult, and their desire for independence should be nurtured. Enhancing speech, learning sign language, or using assistive communication devices should be encouraged throughout adulthood, with the support of a speech therapist when needed. Families can further promote self-advocacy by encouraging adults to speak for themselves and make choices in their daily lives. This sense of control fosters improved self-esteem and reduces negative behaviors. An essential part of self-advocacy is the ability to express emotions effectively. Developing emotional literacy is valuable at any age. Engaging in open-ended, casual conversations about emotions during calm moments provides opportunities for adults to express themselves without agitation or distress.
Collaboration with allied health professionals such as nutritionists, physical therapists, or personal trainers can help address health concerns like obesity and promote overall well-being. Many communities now offer group fitness programs tailored for individuals with disabilities, providing opportunities for social interaction and improved physical health. Participation in sports, whether through Special Olympics or other inclusive sports programs, allows adults to develop interpersonal skills while enhancing their physical fitness. For a more personalized approach, working with a personal trainer or nutritionist can create individualized treatment plans to meet specific needs. Adults with Down syndrome should also receive education on basic nutrition, food groups, portion control, and the importance of hydration and quality sleep for maintaining overall health.
Individuals with Down syndrome are lifelong learners and should be continually provided with opportunities to develop new skills. Occupational therapists play a vital role by helping adults enhance executive functioning, build independent living skills, and develop the social proficiency needed for successful employment. As noted earlier, many individuals with Down syndrome thrive in environments with routine and structure, which can support their ability to maintain a healthy lifestyle. Even for those who spend a significant portion of their day at home, having a consistent routine is essential. Visual aids including calendars, daily schedules, and timers can empower adults to perform tasks regularly and independently.
Adults with Down syndrome desire to contribute meaningfully to their communities and should be encouraged to pursue employment, volunteering, and educational opportunities that align with their strengths. Many universities offer post-secondary educational programs for individuals with intellectual disabilities. These programs allow participants to further their education, experience campus life, and develop a range of vocational skills. After completing post-secondary education, adults with Down syndrome may benefit from connecting with agencies that provide supportive employment services or partner with recruiting firms specializing in job placement for individuals with disabilities.
Many adults with Down syndrome wish to live independently and are capable of doing so when provided adequate resources. The choice of living arrangement should be based on the individual’s abilities, preferences, and comfort level. Some may prefer to live alone, while others may enjoy having roommates. For some, a group home or other living arrangement may be the most suitable option. Working toward independent living, like most experiences in adulthood, allows adults with Down syndrome to set goals and meet them. More information is available in the article Health Promotion for Adults with Down Syndrome. In addition, resources are available on this website and in this book that are suitable for use by adults with Down syndrome for promoting their own health.
Conclusion
In summary, healthcare providers in collaboration with caregivers and community resources can further enhance the well-being of adults with Down syndrome, enabling them to lead fulfilling, independent lives. Medical and mental health providers should understand the unique physical and behavioral characteristics of individuals with Down syndrome. Early recognition of changes in behavior or temperament, combined with a thorough medical workup and mental health evaluation, ensures accurate diagnoses and effective interventions.