What Are the Major Mental Health Related Concerns in Persons 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 vary 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 present with 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)
- Deficits in social relatedness, self-immersed, repetitive stereotypical behaviors (raising concerns of co-existing autism or pervasive developmental disorder)
- 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 presenting with 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 present with increased vulnerability to:
- Generalized anxiety
- Depression, social withdrawal, loss of interest, and diminished self-care
- Regression with decline in cognitive and social skills
All these changes in behavior often seem to occur as a reaction to (or triggered by) a psychosocial or environmental stressor, e.g., illness in, separation from, or loss, of a key attachment figure.
Who Should You Turn To for Help 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 following approach for families.
Consider making a preliminary search in your area for potential providers with experience in working with children and adults with developmental disorders. This may include asking your primary care provider, inquiring at work with your employee benefits officer responsible for your medical coverage to give you a list of providers who indicated an interest in evaluating children and adults with developmental disorders. It always helps greatly if you already have a primary care physician who can make referral recommendations or who already has someone in mind who similarly can make an appropriate referral for you. If you have access to the Internet you visit the website for your medical coverage provider and search for professionals in your geographic region who indicated an expertise in developmental disorders. Finally, you may consider calling the local department or case coordinator in your district for additional services that may be available in your area.
It is always worth making an initial consultation visit 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 as it enables the child or adult with Down syndrome also to feel comfortable with the place, provider, and it also enable you to get a timely appointment in a crisis situation in the future when a critical situation arises. It is often much more difficult to get an initial appointment and to be able to do so 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 may be advisable 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 it is always worth remembering that each state in the US 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 over 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 that have expertise in working with individuals with Down syndrome.
If it is very important to select a psychiatric provider with expertise in medication management with individuals with developmental disorders, it is critical that you find someone who has worked in close proximity to a medical practice, or agency serving the needs of individuals with developmental disorders.
If My Child Has a New "Behavior Problem," Are There Some Medical Causes That We Should Rule Out First?
This is a common question that many medical as well as mental health providers are asked by concerned parents. There are a number of baseline tests that need to be completed to rule out medical conditions that are often associated with children/adults with Down syndrome presenting with a "behavioral problem." Among these we recommend considering the following conditions:
- Thyroid function tests can be completed by the primary care provider or by a developmental and behavioral pediatrician or even a psychiatrist as part of an initial assessment.
- Sleep related difficulties need to be evaluated by a 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 obstructive sleep apnea - see further discussion below.
- Underlying contribution of constipation or bowel related difficulties need also to be ruled out by the primary care or developmental-behavioral pediatrician with interventions as may be necessary and referral to a nutritionist for counsel. There 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 is important also to make sure that the child/adult with Down syndrome has been evaluated for hearing (audiology), vision (ophthalmology), anemia (hematology) and GERD (GI).
Finally, caveats or steps to consider in addressing any of the above potential medical concerns in the context of treatment of "behavioral problems" include the following:
- Step 1: Emotional/behavioral problems in children and adults with Down syndrome occur commonly and are not always due to an underlying medical condition. Nevertheless, these medical conditions associated in children and adults with Down syndrome need to be ruled out as part of a comprehensive assessment approach.
- Step 2: Medical conditions, even if they may not cause the emotional/behavioral issues, may nevertheless exacerbate them or make the child or adult with Down syndrome resistant to treatment of the emotional/behavioral problem.
- Step 3: Correction of a medical condition, e.g. hypothyroidism, may not remove the underlying emotional/behavioral issues. The opposite is also true; for example, a child or adult with hypothyroidism plus depression is unlikely to respond to treatment of depression with antidepressant medication alone unless the hypothyroidism is corrected. Because emotional/behavioral and physical issues are intertwined, the two need to be treated concurrently.
What Are the Symptoms of Generalized Anxiety, Obsessive-Compulsive Disorder and Depression in Down Syndrome? How Are They Diagnosed and Treated?
These are the most prominent presentations among children and adults with Down syndrome. This manifests as an increased level of both baseline as well as situational anxiety with clear cut stressors for each. Situational anxiety is often manifest during transitions and anticipation of new situations, e.g., transitions from home to school, transit, meal or bed times, as well as during novel and unfamiliar situations with uncertain expectations in the environment.
Obsessive Compulsive Symptoms
Increased level 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 where the child or adult needs to follow familiar routines in these situations. They also engage in repetitive, compulsive, as well as ritualistic behaviors that raise the question of obsessive-compulsive disorder. The child or adult under these circumstances tends often to be unhappy, fearful, and the two states - generalized anxiety and obsessive -compulsive behaviors - may often co-exist. The disruptive, oppositional and inattentive child with Down syndrome often does not tend to be unhappy, but rather quite silly, happy, and excited. The problems are quite challenging for parents or caregivers to navigate, as the child/adult with Down syndrome with generalized anxiety or obsessive-compulsive profile has a tendency to be stuck, frozen, and require great degree of negative attention that, in turn, is reinforced, and continues in a vicious cycle.
Differentiating Anxiety and ADHD Symptoms in Young Children
Unlike in children with Down syndrome with impulsive, oppositional, and attention deficit profile, the restlessness, fidgeting, and compulsiveness associated with generalized anxiety state has an identifiable onset with a more intermittent course. There is a need to take a detailed history in all these situations in order to identify the source or environmental triggers contributing to the anxiety in relation to change in 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 is essential. The use of antidepressants or anti-anxiety medications may help and should be reserved for more persistent and serious level of symptoms.
Children and adults with symptoms of depression often present with extreme social withdrawal, sad (but not labile) affect, and inability to enjoy many activities they used to love. Parents or caregivers often report that the child/adult's demeanor had not previously been like that. Disrupted sleep commonly co-occurs in both depression and anxiety states and do not necessarily help us to distinguish between them. A most remarkable aspect of depression in children and adults with Down syndrome is its association with environmental noxious triggers. These may include previously unrecognized medical illness or pain or psychosocial stressors, e.g., older sibling moving to college, sudden or chronic illness in a family member, death of a long household pet, absence of a teacher (leave, illness). All these ordinary events seem extraordinary for children and adults with Down syndrome with a disproportionate psychological impact, as compared to a typical person under similar circumstances. In summary, children/adults with Down syndrome remain exquisitely sensitive to changes in their environment which they often perceive unfavorably. We recommend that if any negative changes are to be anticipated that supportive counseling services and supports be put in place in anticipation of their impact. Attempt to treat persistent depression in the context of ongoing stress with pharmacological intervention is often futile without individual supports. Combination treatment involving both psychosocial and pharmacological components is needed. The argument for pharmacological intervention is strengthened if the children and adults with Down syndrome is deemed to already have a biological vulnerability (e.g., positive family history, previous episode of depression, concurrent medical illness).
What Are the Inattentive, Impulsive, Hyperactive and Disruptive Symptoms in Persons With Down Syndrome? How Are They Diagnosed and Treated?
Children and adults with Down syndrome often have significant processing difficulties and present with a very remarkable difficulty in sustaining attention on tasks. In children with greater cognitive and receptive-expressive language deficits, especially for younger age groups, the difficulties in attention are often accompanied with 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 since it can occur very soon after the initiation of treatment 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 they may increase in anxiety, as well as obsessive compulsive symptoms. For this reason, the main emphasis in 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 high-degree impulsivity and disruptive behaviors the use of low dose of clonidine has been helpful, but this medication may also be limited in its efficacy as it may lead to daytime drowsiness in some children. It should be emphasized that the use if clonidine, per se, can be effective only in addressing impulsive, hyperactive and disruptive behavior, and 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 Related Commonly Associated with Chronic Sleep Difficulties? How is This Assessed and Treated?
Children and adults with Down syndrome commonly experience a range of sleep-related difficulties either as primary sleep disorder or associated with mental health problems (e.g., generalized anxiety and mood disturbances). Irrespective of the etiology, sleep difficulties impair the ability of a child or adult with Down syndrome to maintain alertness and attention during the day, as well as maintain better control, e.g., frustration tolerance. Chronic sleep difficulties in children and adults with Down syndrome need to be evaluated thoroughly by interdisciplinary team in order to rule out any contributory 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 reduction of oxygen saturation in the blood. Although the diagnosis of sleep apnea is suspected on the basis of history that often includes evidence for periods of daytime sleepiness, fatigue, it is necessary to conduct further tests to confirm this diagnosis by means of referral for a sleep study at a sleep disorder laboratory 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 and family is particularly devastating and almost invariably leads to a complicated grief reaction during which time the child or adult with Down syndrome may experience regressive change in their 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, the mental state may persist and be associated with longer term decline in psychosocial and cognitive functioning.
Is Oppositional Defiant Disorder Common in Children/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, making jokes, giggly outbursts that often may also lead to intrusive, uninhibited social behaviors. Many respond to structure and behavioral interventions with clear-cut reinforcements and rewards. Sometimes these behaviors become out of control and take over the overall interactions. They become increasingly oppositional, unable to listen, and quite single-minded and self-immersed, e.g., sitting down or lying down and refusing to get up, or continuing in a self-directed activity with disregard of consequences at meal, bath and bed times, or during transitions. The oppositional behaviors occur in individuals with all levels of cognitive and language skills, but are more difficult to manage in those with greater receptive-expressive communication difficulties. In the classroom setting, behavioral management and one-on-one aide may help to keep the situation in better control and to enable learning. 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 co-occur with ADHD symptoms.
Are Mood and Bipolar Disorders Common in Children and Adults with Down Syndrome?
A comprehensive approach is needed in assessment of a child/adult with Down syndrome presenting with mood instability. It is essential to rule out any underlying medical and neurological conditions, and especially to consider the possibility of adverse effect of medications that may lead to secondary mood instability.
A young child with Down syndrome that presents with persistent oppositional, impulsive, disruptive, irritable, and aggressive behaviors should be considered under a possible 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) need only be considered under careful supervision. Likewise, the use of atypical neuroleptic medications ought to be considered only as a last resort, again, with careful monitoring of their potential side effects. These latter medications tend to be limited in efficacy and should be used sparingly and in low doses. Since children and adults with Down syndrome are already at increased risk of weight gain over their lifespan, 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 wider range of available screening and diagnostic tools for assessment of mental conditions across different developmental age groups in terms of measurement of domains such as non-verbal problem-solving abilities, language and communication and adaptive and behavioral functioning. Much of our current knowledge is based on clinical experience and although emphasis varies depending on the orientation of each provider, e.g., behavioral modification, pharmacological intervention and social skills training, parents would be wise in seeking a holistic philosophy for integrated care (medical-mental health, behavior-pharmacology-social skills).
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 his or 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 develop a better evidence base with expanded research in mental health aspects of Down syndrome. The increased awareness of the mental health issues bodes very well for the future.
NDSS thanks special guest author Kerim Munir, M.D., MPH, D.Sc., for preparing this piece.