What are the major mental-health-related concerns in people with Down syndrome?
At least half of all children and adults with Down syndrome face a major mental-health concern during their life span. Children and adults with multiple medical problems experience an even higher rate of mental-health problems.
The most common mental-health concerns include: general anxiety; repetitive and obsessive-compulsive behaviors; oppositional, impulsive, and inattentive behaviors; sleep-related difficulties; depression; autism spectrum conditions; and neuropsychological problems characterized by progressive loss of cognitive skills.
The pattern of mental-health problems in Down syndrome varies depending on the age and developmental characteristics of the child or adult with Down syndrome as follows:
Young and early-school-age children with limitations in language and communication skills, cognition, and non-verbal problem-solving abilities show increased vulnerabilities in terms of:
-- Disruptive, impulsive, inattentive, hyperactive, and oppositional behaviors (raising concerns of coexisting oppositional disorder and ADHD) -- Anxious, stuck, ruminative, inflexible behaviors (raising concerns of co-existing generalized anxiety and obsessive-compulsive disorders) -- Self-immersed, repetitive, stereotypical behaviors (raising concerns of co-existing autism or pervasive developmental disorder) and deficits in social relatedness -- Chronic sleep difficulties, daytime sleepiness, fatigue, and mood-related problems (raising concerns of co-existing sleep disorders and sleep apnea)
Older school-age children and adolescents, as well as young adults with Down syndrome with better language and communication and cognitive skills, show an increased vulnerability to:
-- Depression, social withdrawal, diminished interests and coping skills -- Generalized anxiety -- Obsessive-compulsive behaviors -- Regression with decline in loss of cognitive and social skills -- Chronic sleep difficulties, daytime sleepiness, fatigue, and mood-related problems (raising concerns of co-existing sleep disorders and sleep apnea)
Older adults show an increased vulnerability to:
-- Generalized anxiety -- Depression, social withdrawal, loss of interest, and diminished self-care -- Regression with decline in cognitive and social skills -- Dementia
All these changes in behavior often seem to occur as a reaction to (or are triggered by) a psychosocial or environmental stressor -- for example, the death or illness of a loved one, or separation from that person.
Who should you turn to for assessment and treatment of mental-health concerns?
Many families live in areas without a mental-health professional skilled in working with children and adults with Down syndrome. We therefore recommend the approach outlined below for families.
Make a preliminary search in your area for potential providers who have experience in working with children and adults with developmental disorders. This may include asking your primary care provider to recommend providers who indicate an interest in evaluating children and adults with developmental disorders. At your work, the employee-benefits officer who is responsible for your medical coverage may also have a list of appropriate providers. It always helps greatly if you already have a primary care physician who can make referral recommendations (or who has someone in mind who can make an appropriate referral for you). If you have access to the Internet, visit the website for your medical-coverage provider, and search for professionals in your region who indicate an expertise in developmental disorders. Finally, consider calling the local department or case coordinator in your area for additional services that may be available there.
It is always worth having an initial consultation to familiarize the child or adult with the professional and to see if this is a good match for your needs. Such an introductory visit is helpful because it helps the patient with Down syndrome become comfortable with the place and provider; it may also help you get a timely appointment if you have a crisis in the future. Booking an initial appointment is often much more difficult than scheduling later appointments, and booking the first appointment in an acute situation has become increasingly difficult, especially in well-known centers.
Please remember that the ideal mental-health provider skilled in Down syndrome is someone who has knowledge of developmental disorders and who also has had experience in working with children. It's a good idea to first seek a mental-health provider who works in a pediatric medical center or who works in close proximity to a pediatric practice.
In geographic locations with limited proximity to such services, keep in mind that each state in the country has what is known as a University Center of Excellence in Developmental Disabilities (UCEDD), which is part of the Association of University Centers in Developmental Disabilities. Many of these programs have been in existence for more than 30 years and are located in tertiary care centers with interdisciplinary services that include mental-health professionals (child psychiatrists, psychologists, social workers), as well as developmental-behavioral pediatricians. The UCEDD programs can also provide advice regarding referral to adult service in the community and help locate mental-health providers who have expertise in working with people who have Down syndrome.
If it is very important to select a psychiatric provider who has expertise in managing the medication of individuals with developmental disorders, and it's critical that you find someone who has worked in close proximity to a medical practice or agency that serves the needs of individuals with developmental disorders.
Identifying Behavior Problems vs. Medical Issues
If my child has a new "behavior problem," are there medical causes we should rule out first?
This is a common question that concerned parents often have for their medical and mental-health providers. For a child or adult with Down syndrome who also has an additional "behavioral problem," a doctor will typically complete a number of baseline tests in order to rule out associated medical conditions. Among these, we recommend considering the following:
--Thyroid-function tests can be completed by the primary care provider or by a developmental and behavioral pediatrician or even by a psychiatrist as part of an initial assessment.
-- Sleep-related difficulties need to be evaluated by the primary care provider, developmental-behavioral pediatrician, or psychiatrist as part of an initial assessment, with referral to a sleep-disorders clinic or laboratory as needed, to rule out obstructive sleep apnea. (See further discussion below.)
-- Underlying contribution of constipation or other bowel difficulties also need to be ruled out by the primary care or developmental-behavioral pediatrician, with interventions as necessary and with possible referral to a nutritionist for counsel. This is a great opportunity to use healthy diet as a tool to reinforce positive behaviors.
As part of the comprehensive checklist of potential medical conditions, it's also important to make sure that the child or adult with Down syndrome has been evaluated for hearing (audiology) and vision (ophthalmology) problems, anemia (hematology), and GERD (GI). Finally, in addressing any of the potential medical concerns in the context of treating a "behavioral problem," consider the following caveats:
-- Emotional and behavioral problems in children and adults with Down syndrome occur commonly and are not always due to an underlying medical condition. Nevertheless, to obtain a comprehensive assessment, these medical conditions associated in people with Down syndrome need to be ruled out.
-- The medical conditions, even if they may in themselves not cause the emotional or behavioral problems, may nevertheless exacerbate them, or make the person with Down syndrome resistant to treatment of the problem.
-- Correction of a medical condition such as hypothyroidism may not remove the underlying emotional or behavioral issues, which may still need to be treated concurrently. Therefore, a child or adult with hypothyroidism plus depression is unlikely to respond to treatment of depression with antidepressant medication alone, unless the hypothyroidism is also corrected. In other words, there is an "interaction" between the medical and the emotional and behavioral conditions.
What are the symptoms of generalized anxiety, OCD, and depression in Down syndrome? How are they diagnosed and treated?
Anxiety is the most prominent issue among children and adults with Down syndrome. It manifests as an increased level of both baseline and situational anxiety, with clear-cut stressors for each. Situational anxiety is often apparent during transitions and anticipation of new situations, such as transitions from home to school; during transit and at mealtime or bedtime; as well as in unfamiliar situations where the environment creates uncertain expectations.
Increased levels of restlessness and worry may lead the child or adult to behave in a very rigid manner, even resulting in a state of being "stuck," as is often reported by caregivers; in these situations, the child or adult needs to follow familiar routines. The child or adult may also engage in repetitive, compulsive, and ritualistic behaviors that raise the question of obsessive-compulsive disorder. Under these circumstances, the person with Down syndrome tends to be unhappy or fearful. The two states -- generalized anxiety and obsessive-compulsive behaviors -- can often coexist. The disruptive, oppositional, and inattentive child with Down syndrome may not be unhappy, but rather quite silly, happy, and excited. The problems are challenging for caregivers to navigate, because the person with Down syndrome with generalized anxiety or an obsessive-compulsive profile has a tendency to become stuck, which requires a great degree of negative attention. The attention, in turn, reinforces the difficult behavior, creating a vicious cycle.
Differentiating Anxiety and ADHD Symptoms in Young Children
The restlessness, fidgeting, and compulsiveness associated with a state of generalized anxiety have an identifiable onset with a more intermittent course (in contrast with the behavior of children or adults who have an impulsive, oppositional, and attention-deficit profile). It's important to take a detailed history in all these situations in order to identify the source or environmental triggers that contribute to the anxiety -- for instance, changes in the immediate home, school, or work environment. In such circumstances, assessment of antecedents, behaviors, and consequences (ABCs) and development of a behavioral-modification and management plan are essential. The use of antidepressants or anti-anxiety medications may help, although it should be reserved for a more persistent and serious level of symptoms.
Children and adults with symptoms of depression often show signs of extreme social withdrawal, a feeling of sadness, and an inability to enjoy many activities they used to love. Parents or caregivers often report that these signs are a change from the person's previous demeanor. People in a state of depression or anxiety also commonly have disrupted sleep, which can make it hard to distinguish between the states. A remarkable aspect of depression in people with Down syndrome is its association with noxious environmental triggers. These may include a previously unrecognized medical illness or pain or psychosocial stressors, such as an older sibling moving to college, a sudden or chronic illness in a family member, the death of a beloved household pet, the absence of a teacher (for leave or illness). All these ordinary events seem extraordinary for children and adults with Down syndrome; they have a disproportionate psychological impact, compared with the response of a typical person under similar circumstances.
In summary, people with Down syndrome remain exquisitely sensitive to changes in their environment, which they often perceive unfavorably. Families that anticipate any upcoming negative changes should make sure that supportive counseling services are in place ahead of time to reduce their impact. Without such individual support, it's often futile to attempt to treat persistent depression pharmacologically in the context of ongoing stress. The best course is treatment that combines both psychosocial and pharmacological components. The argument for pharmacological intervention is strengthened if the person with Down syndrome is deemed to already have a biological vulnerability (such as a positive family history, previous episode of depression, or concurrent medical illness).
Other Mental Health Issues Related to Down Syndrome
What are the inattentive, impulsive, hyperactive, and disruptive behaviors in people with Down syndrome? How are they diagnosed and treated?
Children and adults with Down syndrome often have significant processing challenges and remarkable difficulty in keeping their attention on tasks. In children with a greater deficit in cognition and receptive-expressive language, especially children in younger age groups, the attention deficit is often accompanied by impulsive and hyperactive behaviors. This pattern of inattention, impulsivity, and motor hyperactivity is consistent with a diagnosis of Attention Deficit Hyperactivity Disorder. For this reason, many children with such characteristic behaviors are treated with stimulant medications.
The response of children and adults with Down syndrome has not yielded encouraging results. In a sub-population of children and adults with Down syndrome, there is a definite adverse behavioral activation in response to these medications. The most commonly observed adverse effects include irritability, agitation, aggressive behaviors, transitional anxiety, and sleep-related problems. Parents or caregivers need to be forewarned about these adverse effects because they can occur very soon after treatment begins and can be very troubling for them to witness. A small group of children with ADHD symptoms may nevertheless benefit from stimulant medications, but even for them, their anxiety and obsessive-compulsive symptoms may increase. For this reason, treatment of ADHD-like symptoms needs to focus on behavioral and therapeutic strategies to enhance adaptive functioning and performance in the home and classroom settings.
For children with a high-degree of impulsivity and disruptive behaviors, low doses of clonidine have been helpful, but this medication may also be limited in its efficacy because it may lead to daytime drowsiness in some children. It's important to note that the use of clonidine can be effective only in addressing impulsive, hyperactive, and disruptive behavior, and it does not necessarily improve primary attention. Clonidine administered at bed time may also help the child to settle down to sleep.
What are the behavioral concerns commonly associated with chronic sleep difficulties? How are they assessed and treated?
Children and adults with Down syndrome commonly experience a range of sleep-related difficulties either as a primary sleep disorder or as associated with mental-health problems (such as generalized anxiety and mood disturbances). Whatever the cause, sleep difficulties impair the ability of a person with Down syndrome to maintain alertness and attention during the day, and to tolerate frustration. Chronic sleep difficulties in people with Down syndrome need to be evaluated thoroughly by an interdisciplinary team in order to rule out any contributing medical conditions.
Children and adults with Down syndrome, in particular, are at increased risk for development of obstructive sleep apnea with mild to moderate cessation of breathing during sleep that leads to a reduction of oxygen saturation in the blood. If the person's history includes evidence for periods of daytime sleepiness or fatigue, a diagnosis of sleep apnea may be in order. To confirm this diagnosis, however, it is necessary to conduct further tests at a sleep-study or sleep-disorder lab (often available in major medical centers).
What are major environmental triggers of behavioral and emotional difficulties?
Children and adults with Down syndrome are often exquisitely sensitive to psychosocial and environmental stressors. Illness or loss of close loved ones or family is particularly devastating and almost invariably leads to a complicated grief reaction; during this time, the person with Down syndrome may experience regressive change in his ability to think, reason, remember, process information, and learn. The psychosocial and environmental triggers also lead to a state of generalized anxiety, obsessive-compulsive symptoms, and depression and sleep difficulties. They may be associated with weight loss, poor self-care, and inability to be motivated to attend school or go to work placements. If the situation persists and there is no concerted attempt to intervene with psychosocial counseling, treatment with appropriate medications, and behavioral interventions, then the mental state may persist and be associated with longer- term decline in psychosocial and cognitive functioning.
Is oppositional defiant disorder common in children and adults with Down syndrome?
Many children and adults with Down syndrome have a wonderful disposition: They are fun-loving, and their interactions generally involve teasing and making jokes. Their giggly outbursts, however, can also lead to intrusive, uninhibited social behaviors. Their exuberant behavior sometimes becomes out of control and dominates the overall interaction. They can become increasingly oppositional, unable to listen, and markedly single-minded and self-immersed. They might, for instance, sit or lie down and refuse to get up. Or, during transitions or at mealtime, bath time, or bedtime, they might continue in a self-directed activity with disregard for the consequences. The oppositional behaviors occur in individuals with all levels of cognitive and language skills, but it's more difficult to manage in those with greater receptive-expressive communication skills. In the classroom setting, behavioral management and one-on-one help may keep the situation in control. Oppositional behavioral problems in children with receptive-expressive and cognitive limitations also tend to be associated with increased level of impulsive and hyperactive behaviors and often occur alongside ADHD symptoms.
Are mood and bipolar disorders common in children and adults with Down syndrome?
It's important to take a comprehensive approach when assessing a person with Down syndrome who also shows signs of mood instability. It's essential to rule out any underlying medical and neurological conditions, and especially to consider the possibility of adverse effects of medications that may lead to secondary mood instability.
A young child with Down syndrome who exhibits persistent oppositional, impulsive, disruptive, irritable, and aggressive behaviors may have a mood disorder. In our clinical experience, the coexistence of true bipolar disorder and Down syndrome is relatively unknown. The use of anticonvulsant medications (as mood stabilizers) should be considered only under careful supervision. Likewise, the use of atypical neuroleptic medications ought to be considered only as a last resort -- again, with careful monitoring of potential side effects. These latter medications tend to be limited in efficacy and should be used sparingly and in low doses. Because children and adults with Down syndrome are already at increased risk of weight gain over their lifetime, the increased appetite leading to weight gain associated with atypical neuroleptic medications can be destabilizing. Concurrent behavioral and nutritional interventions are therefore always essential.
Are we entering a new age with improved assessment of mental-health concerns in children and adults with Down syndrome?
The assessment of mental health concerns in children and adults has improved considerably in recent years. There is now a wider range of available screening and diagnostic tools for assessment of mental conditions in different age groups. We can better measure nonverbal problem-solving abilities, language and communication, and adaptive and behavioral functioning. Much of our current knowledge is based on clinical experience. Emphasis varies depending on the orientation of each provider -- behavioral modification, pharmacological intervention, and social-skills training -- and parents would be wise to seek a holistic philosophy for integrated care.
Despite the fact that many individuals with Down syndrome experience significant cognitive delays and other associated physical conditions, they have a very wide range of abilities, and each individual develops at her own pace. Even though they may be delayed in their progression, many achieve meaningful developmental milestones and lead enjoyable and highly enriching lives. There is a need to conduct more research in the mental-health aspects of Down syndrome, but the increased awareness of the mental-health issues bodes very well for the future.
Originally featured on National Down Syndrome Society (NDSS.org) and reprinted with permission. Copyright ? 2012 Meredith Corporation.