Identifying psychiatric disorders in persons with mental retardation: a model illustrated by depression in Down syndrome.

Individuals with mental retardation are benefitting dramatically from changes that support full community inclusion. Rehabilitation professionals are trained to provide appropriate supports, design individualize teaching strategies, and implement services that promote full community participation. Unfortunately, the same advances have not applied to understanding the mental health needs of this population, leaving individuals with mental retardation without proper access to appropriate treatment services. The costs of mental illness in this population are high and result in institutional placements, restrictive behavioral plans, and prescription of antipsychotic medication for behavioral control. Thus, it is imperative that rehabilitation professionals understand the nature and presentation of mental illness in persons with mental retardation in order to advocate for appropriate services that promote successful community inclusion.

A major barrier in obtaining services is the frequent inability of mental health professionals to see mental illness in persons with mental retardation. Reiss and his colleagues posited a phenomenon termed "diagnostic overshadowing" to explain this and conducted an experimental study to support their contention (Reiss, Levitan & Szysko, 1982). These researchers believed that most professionals are so overwhelmed by the disability of mental retardation that they lose their proficiency to evaluate the patient effectively. This work has recently been extended to rehabilitation counselors serving individuals with physical disabilities (Garner et al. 1994).

Mental health clinicians must, therefore, receive specific training in mental retardation. In psychiatry, few residency programs offer intensive training in mental retardation (Szymanski, L, Madow, L, Mallory, G, et al. 1991). Nezu reported that 75% of clinical and 67% of counseling psychology graduate programs did not include mental retardation in the curriculum, and that the Journal of Consulting & Clinical Psychology published only 11 articles on mental retardation from 1972 to 1992 (Nezu, 1994). It is not surprising, then, that few mental health clinicians feel adequately prepared to teach this population.

The need for identifying mental health problems in persons with mental retardation is critical. There is a consensus that the rate of mental illness is quite high. Reiss (1994) recently summarized 36 studies and found wide variation in reported rates from under 15% to over 35%. Low prevalence rates were found in surveys that relied on retrospective review of case files, while higher rates were found in surveys using more comprehensive research methodologies.

Major Factors Resulting in Diagnostic Barriers Persons with mental retardation have very significant cognitive impairment, neurobiological differences, developmental and psychosocial challenges that impact on the presentation of mental illness. These differences may paint a symptom picture different from that expected in persons of normal intelligence.

Cognitive Limitations. Cognitive impairment is the major factor causing different presentation and need for altered treatment of psychiatric disorders in persons with mental retardation. The initial diagnostic assessment, based on an individual interview, is the cornerstone of psychiatric work, and this method has major limitations as applied to persons with mental retardation. Due to their cognitive impairment, individuals with mental retardation have difficulty complying with the diagnostic interview. Because of low intelligence, questions posed during the diagnostic interview may be misunderstood and answered incorrectly. Questions regarding development of the symptoms, internal experiences, physical state, and social/occupational functioning are far too complex even for persons with mild mental retardation. For example, when questioned regarding hearing voices, many individuals may respond affirmatively, referring to their private speech or internal dialogue that is normal (Hurley, in press). Further, limitations in verbal communication, vocabulary, and understanding of abstract language impair ability to answer questions. These difficulties further extend to assessing treatment response once a treatment plan has been initiated and to the provision of counseling and psychotherapy techniques (Hurley, 1989). In addition, persons with moderate, severe and profound mental retardation have little ability to comply with the simplest aspects of the diagnostic interview. For some psychiatric disorders, verbal report is absolutely necessary to establish a diagnosis. Reid has contended, for example, that it is impossible to diagnose schizophrenia in severe and profound mental retardation due to the inability to report hallucinations and delusions (Reid, 1993).

Behavioral Factors. Persons with mental retardation may also present with behavioral manifestations of mental illness that are different from those seen in persons of normal intelligence. In formulating the concept of baseline exaggeration, Sovner demonstrated that persons with mental retardation often experience an increase in aberrant behavior during a mental illness (Sovner, 1986). For example, previously existing self-injurious behavior may greatly increase (Sovner et al. 1993; Lowry & Sovner, 1993). Unfortunately, the aberrant behavior itself often becomes the focus of attention, and staff and support personnel do not consider the possibility that a mental illness may be driving the behavioral change.

Developmental Factors. The developmental nature of the deficit in mental retardation also impacts on presentation of mental illness. The grandiosity of a manic episode may not be apparent. For example, manic individuals with mental retardation may be "grandiose" in feeling they can drive a car, whereas the normal intelligence patient will indulge in more sophisticated aberrant behavior (Sovner, 1986).

Neurobiological Factors. Mental retardation has many causes, and a number of specific neurobiological syndromes are associated with mental retardation and mental illness or severe behavioral disorders. For example, Prader-Willi syndrome, a condition associated with mental retardation, marked obesity, short stature and dysmorphic facial features, is associated with compulsive overeating and impulse control disorders (Bartolucci & Younger, 1994). When a person with mental retardation has a very identifiable syndrome, it is more difficult for professionals to consider a mental illness due to the salience of the syndrome. Thus, diagnostic overshadowing is more apt to occur.

It is also assumed that mental retardation is, in most cases, caused by abnormal deviations during brain development. Advances in the field of psychiatry in the last two decades have stressed the role of the neurobiological substrate in causing a variety of mental illnesses, and it can be assumed that persons with mental retardation may have an additional predisposition to such problems because of differences in brain organization and neurotransmitter system functioning.

Social and Interpersonal Factors. Persons with disabilities face many barriers in society. They suffer from stigmatization by others, as well as social rejection and prejudice. Because of this, persons with disabilities may be motivated to hide their limitations. Wright has noted a variety of innovative charades used to hide hearing impairment, visual impairments and physical limitations (Wright, 1983). Persons with mental retardation do so quite effectively as noted by Edgerton in the "Cloak of Competence" (Edgerton, 1967). As Reiss pointed out, this suggests that admission of the additional disability of mental illness by persons with mental retardation is unlikely. Thus, interviews or self-report questionnaires may be of limited value. For example, persons with mental retardation may answer "yes" to any question in order to mask confusion. During the psychiatric interview, questions eliciting "yes" or "no" answer are particularly inappropriate.

Persons with mental retardation generally have fewer support networks to promote happiness, and therefore, good mental health. Feelings of loss, rejection, and isolation are major contributing factors in depression among adults with mental retardation (Reiss & Benson, 1984). Further, the development of interpersonal coping skills is lessened due to cognitive limitations.

Major Depressive Episodes in Persons with Down Syndrome An exploration of major depression in persons with Down syndrome was conducted to provide an example of the presentation of psychiatric disorders among individuals with mental retardation. This example was chosen for several reasons. Individuals with Down syndrome represent a significant proportion of the population with mental retardation, and rehabilitation professionals are familiar with individuals who have this syndrome. They are also a diverse group, and have displayed an excellent adjustment to community and vocational work generally. A wide range of psychiatric disorders have been reported to occur among persons with Down syndrome, including anorexia nervosa, phobias, obsessive-compulsive disorder, bipolar disorder, autism, Tourette syndrome, and schizophrenia (Menolascino, 1965; Lund, 1988; Myers & Pueschel, 1991; Collacott, Cooper & McGrother, 1993). A detailed exploration of major depressive episodes was chosen because a significant number of detailed published case reports on major depressive episodes exist. Further, major depression is an exceedingly treatable disorder with a variety of psychopharmacological agents, supportive psychotherapy, and cognitive behavioral therapy readily available.

Case reports in the English language literature were identified through a search of journal publications referenced in Psych Abstracts and Index Medicus from 1960 to 1994 and are summarized in Table 1. Cases were included if the person was diagnosed with depression by the author, and if there was sufficient case detail for examination.

Comparison of symptoms to DSM IV criteria Self-report or caregiver reports of internal feeling state. Depression is identified by showing that the patient meets a set of criteria (see Table 2 for current DSM IV criteria). The first criteria is mood, usually ascertained by self-report, although others may note a depressed or sad mood. Also included in the criteria are self-report of interest in activities, feelings of worthlessness, poor concentration, and thoughts of death. Verbal self-report of these symptoms, or observations of sadness seen by caregivers, were noted in the following case studies: fantasies of war and suicide (Roith, 1961); crying, sadness and withdrawal (Jakab, 1978); self-deprecating statements, feelings of worthlessness (case #1), crying (case #2) and sad appearance (case #3) (Szymanski & Biederman, 1984); appearance of profound depression (Cochrane et al. 1977); crying (cases #1, #2,) and appeared sad (#5) (Warren et al. 1989); and statements of death and suicide (Storm, 1990). Whereas in persons of normal intelligence, reports of the cognitive aspects of depression are prominent, persons with mental retardation do not verbalize similar internal perceptions well.

Vegetative signs of appetite and sleep disturbance. Caregivers may report appetite and sleep disturbances reliably. Over time, poor appetite is usually noted by caregivers who will observe meal time behavior, and/or significant weight loss or gain. In the case studies, the following were noted: decreased appetite (Roith, 1961); appetite loss (case #1) and 30 lbs. weight loss (case #2) (Keegan et al. 1974); food refusal (case #1) and cessation of eating (case #2) (Cochrane et al. 1977); appetite loss (case #1), anorexia nervosa (case #2), and weight loss (case #3) (Syzmanski & Biederman, 1984): weight loss (case #1), 30 lbs weight loss (case #2), 25 lbs loss (case #3) and 60 lbs loss (case #4) (Warren et al. 1989); and weight loss (Storm, 1990).

Sleep disturbance, on the other hand, is only noted if the person complains of poor sleep or if they are up at night making their presence known to caregivers. Sleep disturbance was reported in the following cases: insomnia (Roith, 1961); insomnia (case #1) (Keegan et al. 1973); insomnia (case #1), poor sleep (case #3) (Szymanski et al. 1984); insomnia (case #1, 3 and 5) (Warren et al. 1989). The above supplies strong evidence of appetite and sleep disturbance in the experience of major depressive episodes, similar to adults of normal intelligence.

Neglect of Personal Care. A striking loss of personal care habits was found. It may be that this alone accounted for the referral to the mental health specialists, for caregivers would be directly affected by such a change. The following was reported: disorganization and need for constant care (Keegan et al. 1974); loss of skill and refusal of care, (Jakab, 1978); severe withdrawal and neglect of personal hygiene (Syzmanski and Biederm 1984); loss of personal care skills in all five cases (Warren et al. 1990). This was often accompanied by withdrawal from others, and well as incontinence.

Psychotic Features. The occurrence of bizarre or psychotic behavior, hallucinations and delusions when under stress was well represented among the case studies. The following was reported: agitation, wandering and moaning, stating mother was dead, paranoid delusions, fantasies of war and death (Roith, 1961); hyperactivity, posturing, partial mutism, auditory hallucinations, stereotypies (case #1) and negative attitude, paranoid thoughts, thinking food was poisoning, catatonic withdrawal (case #2) (Keegan et al. 1974); giggling, mutism, mumbling in a low voice (Jakab, 1978); inappropriate laughing and crying, visual hallucinations (case #1), hallucinations, shuffling gait (case #2), delusions regarding his left side, mannerisms, (case #3), mutism (case #4), and visual and auditory hallucinations (case #5) (Warren et al. 1989); sitting motionless and mutism (Storm, 1990). When such a clinical picture emerges, clinicians may err in assuming that a primary psychotic illness is present. For example, Keegan and his colleagues noted seriously disorganized behavior, and discussed the difficulty in diagnosing depression in the presence of psychotic symptoms. The first case, a 23-year-old-female, had six weeks of grossly disorganized habits, insomnia, hyperactivity, posturing, repetitive stereotyped behavior, auditory hallucinations, and neglect of all personal care. Treatment with an antipsychotic agent provided no improvement or worsening, but she improved remarkably after two weeks of treatment with 150 mg amitriptyline. Similarly, the second case, a 25-year-old-female, lost 30 lbs. stating that her food was poisoned, withdrew to bed, and had "almost catatonic withdrawal" with negativism. She also became worse when treated with the antipsychotic trifluoperazine, and later improved remarkably with 150 mg amitriptyline. Keegan and his colleagues noted the simultaneous "psychotic" picture with strong features of depression, and were hesitant to give the diagnosis of depression.

Alzheimer disease and dementia The issue of dementia must be addressed for two reasons. First, dementing illness and depression present similarly in elderly. This phenomenon, pseudodementia, is well-documented, wherein a patient is erroneously diagnosed as suffering from a dementing illness when, in fact, he or she has a treatable depression. Secondly, individuals with Down syndrome are known to experience a high incidence of Alzheimer disease beginning in the fourth decade, in addition to a generalized premature aging (Wisniewski, Silverman & Wegiel, 1994; Rasmussen & Sobsey, 1994).

Warren, Holroyd and Folstein (1989) reported five cases of major depression referred for evaluation of Alzheimer's disease. Each individual referred presented with a significant loss of adaptive skills in daily living, whereas they had all previously been able to function adequately. In case #1, for example, a shuffling gait, apathy, withdrawal, and slower speech were noted and these symptoms are common during decline from Alzheimer's disease. For this individual, however, affective symptoms of crying, irritability, weight loss and sleep disturbance also suggested an affective disorder. The patient also showed fear of familiar objects, inappropriately laughed and cried, and grasped for objects not there, as if she had visual hallucinations. Obviously, the presentation of the individuals was not that of the typically depressed patient, and a diagnosis of dementia might have been easily made had clinicians not been highly trained, familiar with this population, and experts in neuropsychiatry. All five of the patients in this report were successfully treated for depression. The use of antidepressant drug therapy alone provided recovery for three of the five individuals, and two others required electro-convulsive therapy and/or lithium, which are therapies typically used in serious treatment-resistant depressive disorders. It is important, however, to note that dementia and depression often coexist. Treating the depression may assist in maintaining the highest possible functioning level during the course of deterioration (Harper & Wadsworth, 1989; Collacott & Cooper, 1992; Burt, Loveland & Lewis, 1992).

The use of mental retardation equivalents. The above challenges in diagnosis do not, however, suggest that it is fruitless to consider using standard diagnostic criteria for persons with mental retardation. Table 2 illustrates a framework for conceptualizing DSM IV criteria using mental retardation equivalents suggested in the original review of all reported case of depression in persons with mental retardation (Sovner & Hurley, 1982, 1983). Using this method, professionals may generate behavioral manifestations that are similar to those required in DSM IV, such as substituting crying or statements regarding death for verbalization of depressed feelings. Such a framework is helpful to rehabilitation professionals faced with assessing problematic and complex behavior in individuals with mental retardation. It can be applied easily to other psychiatric syndromes in DSM IV. Because of verbal impairments in self-report particularly, the required criteria for any psychiatric disorder may not be met. In major depressive episodes, verbal reports on inner states may be absent, and these would include reporting loss of interest in usual activities, feeling tired, or worthless, and diminished ability to think or concentrate (see Table 2). In schizophrenia, reports of auditory or visual hallucinations, as well as delusional beliefs may also be absent, as noted by Reid, because individuals with mental retardation cannot report these phenomenon accurately, if at all (Reid, 1993). It is advisable that rehabilitation and mental health professionals be encouraged to still make probable diagnoses based on the available information and symptoms, rather than treating disturbing or changing behavior as a "behavioral problem" or as a generalized psychotic or anxiety state.

Discussion

Individuals with mental retardation have great opportunities available to them because of national changes in supports that stress full community inclusion. Unfortunately, these individuals also experience a high rate of psychiatric disorders. Untreated or improperly treated mental health problems lead to institutional placements, restrictive behavioral plans, and prescription of antipsychotic medication for behavioral control.

Individuals with mental retardation may present with symptoms of mental illness that are unlike those of the normal population. Because of limitations in cognitive ability generally, and verbal ability specifically, persons with mental retardation cannot articulate their internal feeling states and thoughts well. For these reasons, they also cannot comply with the psychiatric diagnostic interview, the cornerstone of diagnosis and treatment planning. Further, maladaptive behavior, impairments in the neurobiological substrate, developmental delay, and psychosocial factors may cause the outward manifestations of mental illness to be different from those ordinarily expected among persons of normal intelligence.

In this paper, a review of published case reports of individuals with Down syndrome and major depression was conducted to illustrate the presentation of this psychiatric disorder among people with mental retardation. The majority of patients did not verbalize internal feeling states related to the symptomatic picture. This alone illustrates the difficulty faced when the patient cannot adequately self-report. It is unlikely that caregivers will be sensitive to the mood state reliably, although crying and irritable behavior may be noted. A recent study reported evidence that caregivers may, in fact, be very insensitive to depression in persons with mental retardation (Clark, Reed & Sturmey, 1991). On the other hand, in a majority of cases, disturbance of appetite or sleep was noted, supporting a diagnosis of major depression.

The cases studied included a high proportion of unusual features, such as hallucinations, paranoid delusions, gross neglect of self-care, and catatonia. These difficulties may appear due to extreme distress and a general "breakdown" of coping systems during a mental illness. The appearance of such behavior in the normal population might suggest a more primary psychotic disorder, and it is possible that treating clinicians would then not consider a diagnosis of depression. Such reactions, however, may be more generally indicative of stress, either psychological or medical, among individuals with mental retardation.

The cases reviewed in this paper were those individuals referred to specialists in psychiatry and mental health. Many individuals suffering from similar psychiatric disorders are not referred to mental health specialists at all, and are instead placed in institutions, diagnosed with dementia, or treated with inappropriate behavioral programming. These situations are largely unreported. Professionals who work in the field of mental retardation must become educated about the mental health needs of adults in terms of presentation, appropriate treatment, and effects on habilitation and rehabilitation services. There is an enormous need for teaching and training while professionals are in their school-based preparatory programs. These changes will be effective when the regulatory agencies involved include mental retardation as a required area for all mental health professionals, and when rehabilitation professionals receive required training in mental health aspects of mental retardation.

Positive changes in the field of rehabilitation are already occurring. The National Association for the Dually Diagnosed promotes national and local conferences, training materials, and bibliographies on mental health and mental retardation. Researchers have developed psychopathology rating scales designed specifically for this population (Hurley, et al. in press). Most importantly, advances in mental health diagnosis and treatment in psychiatry can directly be applied to individuals with mental retardation. The focus on the neurochemical substrate and its contribution to mental illness has spurred a new interest in mental retardation among mental health researchers.

Professionals who support individuals with mental retardation must be aware of the high rate of mental health problems, the atypical presentations of mental illness in this population, and must advocate for a comprehensive mental health evaluation. With continuing research and new treatments becoming available, individuals with mental retardation and mental illness will be able to receive appropriate treatment throughout the United States.

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[TABULAR DATA FOR TABLE 1 OMITTED]

Table 2 DSM IV symptom criteria for Major Depressive Episode and MR
equivalents (after Sovner & Hurley (1982) and adapted for DSM IV
criteria.

A. Five (or more) of the
following symptoms have
been present during the
same 2-week period and
represent a change from
previous functioning.

1) depressed mood or       apathetic, facial expression; lack of
irritable mood             emotional reactivity; or upset; tantrums;
                           or upset; tantrums; verbal and physical
                           aggression.

2) markedly diminished     withdrawal; lack of reinforcers; refusal
interest or pleasure in    to participate in leisure activities or
most activities.           work.

3). significant weight     tantrums at meals; stealing food;
loss, decrease or          refusing activities; hoarding food in
increase in appetite       room.

4) insomnia or             if living in staffed situation, staff
hypersomnia                note being up at night; any change in
                           sleeping habits; tantrums or activity
                           during sleeping hours.

5) psychomotor             pacing, hyperactivity; increase in self-
agitation or retardation   injurious behavior or aggression; or
                           decreased energy, passivity; development
                           of obsessional slowness in activities of
                           daily living; muteness; whispering;
                           monosyllables; oppositional.

6). fatigue or loss        appears tired; refuses leisure activities
of energy                  or work; withdraws to room; loss of daily
                           living skills; refusal to do personal
                           care; incontinence.

7) feelings of             statements such as "I'm stupid.".
worthlessness

8) diminished ability      poor performance at work; change in
to think or concentrate    leisure habits and hobbies; appearing
                           distracted, confused, memory problems.

9) recurrent thoughts of   perseveration on the deaths of family
death, suicidal behavior   members and friends; preoccupation with
or statements              funerals.

Anne DesNoyers Hurley, Ph.D., Tufts University School of Medicine, New England Medical Center/Bay Cove Human Services, Inc., 750 Washington Street, Boston, Massachusetts 02111.