Disclosure
A diagnosis of mental retardation carries with it certain unique treatment needs that must be understood and addressed. Unfortunately, most psychiatrists are ill-equipped to handle this situation, having received little or no formal training in this area. This article is written with the specific goal of giving psychiatrists a better understanding of the special needs of patients with mental retardation and strategies for improving their quality of life. Mental retardation is a state of developmental deficit, beginning in childhood, that results in significant limitation of intellect or cognition and poor adaptation to the demands of everyday life. As noted by Esquirol, intellectual disability is not a disease in and of itself, but is the developmental consequence of some pathogenic process. The Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR) defines mental retardation as follows:
Although mental retardation is classified as an axis II disorder in DSM-IV-TR, it is not considered a mental illness as such, with its own unique signs and symptoms. It is a system of identifying groups of people who need social support and special educational services to carry out tasks of everyday living. The causes of mental retardation can be grouped from most to least common as follows:
Physical causes are evident in the majority of cases of moderate-to-profound retardation. A disadvantaged environment is more likely in mild retardation. Many of the classification systems for mental retardation have been based on the timing of the insult to the CNS. The successive classification systems developed by the American Association on Mental Retardation also followed the timing approach. Prenatal Causes - Genetic DisordersPrenatal genetic disorders are characterized by changes in the genetic material, which may or may not have been inherited from the parents. Chromosomal aberrations This syndrome is the best-known example of a prenatal genetic disorder. In 95% of cases, it is caused by trisomy 21, in which the extra chromosome 21 in the egg or sperm cell results from the nondisjunction in the meiotic stage. When such a gamete becomes fertilized, the fetus will have an extra chromosome 21 in all cells, for a total of 47 chromosomes. In cases of Down syndrome caused by translocation, there are 46 chromosomes, but chromosomal material from 47 chromosomes is present because an extra chromosome 21 is attached (translocated) to another chromosome, usually chromosome 14 (designated as t(14;21)). In approximately half of translocation cases, a parent (usually the mother) has a balanced translocation, ie, 45 chromosomes with t(14;21). If a child has translocation Down syndrome, the parents should be examined for the presence of a balanced translocation. This is important in genetic counseling because when the mother or father has a t(14;21) translocation, the chance of having a child with Down syndrome is 1 in 10 if in the mother or 1 in 20 if in the father. In another variant, mosaicism, some cells have 47 chromosomes and others have 46 because of an error in one of the first cell divisions of the fertilized egg. The characteristic phenotype of Down syndrome basically is the same in trisomy 21 and in translocation. The main features are upward-slanted palpebral fissures, a low nasal bridge with epicanthal folds, a small mouth and ears, a single palmar crease (simian crease), a flat nasal bridge, short and wide palms, and a characteristic dermatoglyphic pattern. A loss of part of a chromosome is called a deletion. The best-known example is cri-du-chat syndrome, which is characterized by a high-pitched voice and is caused by a deletion in chromosome 5p3. Note that most fetuses with chromosomal aberrations are not viable. Approximately 40-50% of spontaneously aborted fetuses have a chromosomal anomaly. Only 2 of 10 fetuses with Down syndrome are born alive. A new method of using DNA probes and fluorescence in situ hybridization has brought new light to many of the malformation syndromes previously classified as being of unknown origin. The same submicroscopic deletions (microdeletions) of DNA have been reported in chromosome 15q11-12 in the Prader-Willi and Angelman syndromes, despite the fact that these syndromes have different phenotypes. It has been discovered that because of the mechanism of imprinting, the Prader-Willi syndrome results when the microdeletion is in the chromosome of paternal origin and the Angelman syndrome results when it is of maternal origin. Persons with the Prader-Willi syndrome have an excessive appetite and indiscriminate eating habits, leading to obesity. Because this syndrome has no clear pathognomonic features, it may remain undiagnosed, and such individuals might even be referred for psychiatric treatment because of an eating disorder. Obviously, psychological factors are not the primary cause here, but supportive psychotherapy might be helpful. The treatment is based on behavioral modification, the institution of strict environmental limits on food intake, and necessary educational and habilitative programming. Disorders with autosomal-dominant inheritance Tuberous sclerosis is an example of the disorders in this group, which might be associated with mental retardation. It is caused by a mutation in a gene affecting the formation of the ectodermal layer of the embryo. Because the skin and the CNS develop from this layer, abnormalities are seen in both. The skin lesions include angiofibromas in the form of macules on the cheeks (adenoma sebaceum), with a butterfly-like distribution, especially after puberty. Café au lait spots or nonpigmented ash leaf–shaped areas also are found. Mental retardation, epilepsy, and calcifications in the brain are seen, as are tumors. Epileptic seizures often begin as infantile spasms, which should alert the physician to look for other symptoms of this disorder. If tuberous sclerosis is diagnosed, both parents should be examined carefully because the mutation is inherited in approximately 28% of cases. Because of the dominant inheritance, the risk of recurrence is 50% for each pregnancy. The expression of this gene mutation varies from small skin discolorations (which may indicate a carrier state) to multiple disabling conditions. It is a relatively rare disorder (prevalence of 1 in 30,000 to 1 in 50,000 live births), but it may be found in approximately 0.5% of persons with severe mental retardation. Disorders with autosomal-recessive inheritance Most metabolic disorders belong to this category. They are caused by single mutated genes that disturb the metabolism by deficient enzyme activity. The risk of healthy carrier parents having an affected child is 25% for each pregnancy. The diagnosis is made by detection of abnormal metabolic products in the urine, blood, or tissues and/or by low or absent enzyme activity. Phenylketonuria (PKU) is the best known and most common of the metabolic disorders, with a prevalence of approximately 1 in 10,000 live births. The enzymatic defect is diminished activity of phenylalanine hydroxylase, which leads to a high serum phenylalanine level, affecting, among other things, myelination of the CNS. It was described in 1934 by Folling in 10 children with mental retardation, hypertonia, and hyperreflexia, with a musty odor in urine and sweat. Seizures and tremors are common, as are eczema and psychotic manifestations. The clinical symptoms can be prevented by use of a low-phenylalanine diet soon after birth. In most developed countries, all newborns are screened for PKU. Increasingly, a lifelong low-phenylalanine diet is recommended to prevent later deterioration in cognitive functions. Women with PKU who were successfully treated do not have clinical manifestations themselves but still have phenylalanine blood levels high enough to cause brain damage to a fetus if they become pregnant. To avoid this, they should start to follow the diet again before they become pregnant. X-linked mental retardation Fragile X syndrome is the most common inherited form of mental retardation and, after Down syndrome, its most common genetic form. It is X linked, with dominant inheritance, and the penetrance is lower in females. Because of a constriction at the location Xq27.3, it appears as if the chromosome is fragile and a part of it is breaking off. Prepubertal boys with this syndrome look quite normal. They often are restless and hyperactive and have a short attention span. Their developmental milestones, especially speech development, are delayed. After puberty, the characteristic phenotypical features may appear. They include an oblong face, prominent ears and jaw, and macroorchidism. Most have moderate mental retardation, but retardation is more severe in others. Male carriers do not have mental retardation. Females with fragile X syndrome who have the full mutation and are symptomatic usually have learning disabilities or mild mental retardation. Behavioral symptoms have been described in these individuals, ie, hyperactivity and social withdrawal in approximately 50% and depression in approximately 25%. Maternal infections Viral infections in the mother can interfere with organogenesis, and the earlier in pregnancy they occur, the more severe their effect will be, as exemplified by congenital rubella. Rubella infection during the first month of pregnancy affects the organogenesis of 50% of embryos. Infection in the third month of pregnancy still disturbs the development of 15% of fetuses. Various systems are affected, and as a result, symptoms and impairments may vary and include mental retardation, microcephaly, hearing and vision impairment, congenital heart disease, and behavior problems. Fortunately, the incidence of congenital rubella has greatly decreased because of the availability of immunization for prospective mothers. Congenital cytomegalovirus infection may result in microcephaly, sensorineural hearing loss, and psychomotor retardation. Antibodies against cytomegalovirus are found in approximately 80% of adults. Depending on the population, primary infections occur during 2-5% of pregnancies. Cytomegalovirus inclusion bodies are seen in urine specimens of newborns who were infected prenatally. Congenital toxoplasmosis may result in significant problems in approximately 20% of infected infants (eg, hydrocephalus, microcephaly, psychomotor retardation, vision and hearing impairment) and in milder developmental problems later in life. Congenital human immunodeficiency virus infection has been increasing in importance. In a German study of 41 children born to mothers who were positive for human immunodeficiency virus infection, neurological symptoms were described at age 1-7 years. Human immunodeficiency virus encephalopathy was characterized by microcephaly, progressive neurological deterioration, mental retardation, cerebellar symptoms, and behavioral changes. Prophylactic intravenous immunoglobulin therapy with and without zidovudine often was able to prevent regression. Improvement was seen with zidovudine treatment. Toxic substances The most important of the teratogenic substances is ethanol, which is the cause of fetal alcohol syndrome (FAS). The prevalence of this syndrome varies around the world, but its occurrence in industrialized countries is estimated to be approximately 1 in 1000 newborns. When used heavily during pregnancy, alcohol causes abnormalities in 3 main categories: (1) dysmorphic features, which originate in the period of organogenesis; (2) prenatal and postnatal growth retardation, including microcephaly; and (3) CNS dysfunction, including mild to moderate mental retardation, delay in motor development, hyperactivity, and attention deficit. The severity of the symptoms is related to the amount of alcohol ingested. Toxemia of pregnancy and placental insufficiency Intrauterine growth retardation has many causes, the most important being maternal toxemia with its consequences, ending in insult to the CNS. Prematurity may be of maternal or fetal origin. When it is connected with fetal developmental deviations, the prognosis depends on the infant's general condition. Prematurity and especially intrauterine growth retardation predispose to many perinatal complications, which may result in insult to the CNS and developmental problems. Perinatal CausesThis period refers to 1 week before birth to 4 weeks after birth. Infections During the neonatal period, the most important infection, from the point of view of its developmental sequelae, is herpes simplex type 2. The neonate is infected during the delivery and may develop encephalitis within 2 weeks. Early treatment with acyclovir may alleviate the otherwise poor outcome, ie, microcephaly, profound mental retardation, and neurological deficits. Neonatal bacterial infections might result in sepsis and meningitis, which, in turn, may cause hydrocephalus. Delivery problems During delivery, asphyxia is the most important factor causing an insult to the CNS. It leads to cell death, which might be demonstrated with neuroimaging techniques as leukomalacia. Premature infants and those with intrauterine growth retardation are at special risk for damage to the cortex or thalamus, which, in addition to affecting intelligence, causes various symptoms of cerebral palsy (CP) and seizure disorder, depending on the location of the pathological condition. Importantly, note that asphyxia alone does not cause mental retardation. Neurological symptoms during the neonatal period have a strong association with prenatal developmental deviations and later neurological integrity and intellectual level. For these reasons, infants with perinatal problems need a thorough examination for dysmorphic features and close follow-up because multiple disabilities might become evident later in life. Other perinatal problems Retinopathy of prematurity (formerly referred to as retrolental fibroplasia) was seen frequently when the use of 100% oxygen in neonates was common, resulting in blindness. It often is associated with other CNS damage, mental retardation, and other developmental problems. Infants with extremely low birth weight are at risk for intracranial hemorrhage and hypoglycemia resulting from a lack of hepatic glycogen storage. These neonatal problems may have results similar to those of asphyxia. Hyperbilirubinemia may result from increased destruction of red cells (eg, hemolysis due to maternal-child blood group incompatibility) or decreased excretion of bilirubin (eg, due to an immaturity of liver function). The brain damage that may ensues results in manifestations of various degrees, including CP, sensorineural hearing loss, and mental retardation. Postnatal CausesInfections Bacterial and viral infections of the brain during childhood may cause meningitis and encephalitis and result in permanent damage. The number of these complications has decreased because of improved treatment and the availability of immunizations such as that for measles. Toxic substances Lead poisoning still is an important cause of mental retardation in the United States. The most frequent source of lead is pica – ingestion of flaking, old, lead-based paint. Other sources of lead are certain fruit-tree sprays, leaded gasoline, some glazed pottery, and fumes from burning automobile batteries. Gastrointestinal symptoms dominate in acute poisoning. Headache may be associated with increased intracranial pressure, which may even lead to coma. Late manifestations include developmental retardation, ataxia, seizures, and personality changes. Other postnatal causes Among childhood malignancies, brain tumors are second in frequency after leukemias. Of these, 70-80% are gliomas, symptoms of which depend mostly on location. Some are benign and treatable, but most have deleterious effects, resulting in various neuropsychiatric symptoms depending on their location and extent. In addition, treatment such as surgery and radiation might affect the integrity and function of the brain. Traffic accidents, drowning, and other traumas are the most common causes of death during childhood. Even greater is the number of children who become disabled. Near-drowning often is devastating, but even in these cases, improvement of functional capacity may be achieved by rehabilitation because the developing brain has the ability to recover. Psychosocial problems The developmental level of a growing individual depends on the integrity of the CNS and on environmental and psychological factors. The importance of environmental stimulation for child development has been appreciated since research on children in institutions showed that development was severely affected in a depriving environment, even if adequate physical care was provided. Poverty predisposes the child to many developmental risks, such as teenage pregnancies, malnutrition, abuse, poor medical care, and deprivation. Severe maternal mental illness is another risk factor. Mothers with severe and chronic illness might have difficulty providing adequate care and stimulation. Children of mothers who have schizophrenia are at risk for the development of cognitive deficits, although these may not be secondary to maternal illness but may represent a genetically determined predisposition to schizophrenia. Psychotic illness in a child has been shown to be associated with a decline in cognitive abilities. Unknown causes Despite detailed assessment, no cause can be identified in approximately 30% of cases of severe mental retardation and in 50% of cases of mild mental retardation. This, of course, reflects the inadequacy of diagnostic techniques, rather than a lack of causation.
Mental retardation affects approximately 1-3% of the population in developed countries. Until recently, a significant proportion of individuals with mental retardation were cared for in residential facilities such as state-run training schools. The recent trend has been to move individuals who are mentally disabled out of institutional settings and into more community-based living arrangements such as group homes. This trend underscores the idea that mental retardation cannot be categorized as a mental illness in the strictest sense of the term. Thus, these individuals should be viewed as merely a population requiring more-than-average help in the daily chores of living. Of individuals with mental retardation, an estimated 40-70% have diagnosable psychiatric disorders. These individuals are not the only ones who have contact with psychiatrists. Like anyone else, a person who is developmentally disabled may exhibit emotional, behavioral, interpersonal, or adjustment problems that do not constitute major psychiatric disorders but that, nonetheless, may benefit from psychiatric input. Sampling issues probably account for the wide variety in prevalence rates. For example, studies differ as to whether subjects are selected randomly or referred specifically to psychiatric clinics, and studies also may assess different mental disorders. Einfeld and Tonge used the Developmental Behavior Checklist, a 96-item checklist that helps to detect the presence of emotional and behavioral problems. Rated behaviors fall into 6 subscales, as follows: (1) disruptive, (2) self-absorbed, (3) communication disturbance, (4) anxiety, (5) autistic relating, and (6) antisocial. Based on their population sample of all of the children and adolescents (aged 4-18 y) in 5 regions of New South Wales, Australia, 40.7% of those with an IQ below 70 could be classified as having severe emotional or behavioral disorders. Perhaps more worrisome is the fact that less than one tenth of these children and adolescents with major psychiatric illness received specialized psychiatric care. In the United States, the same phenomenon holds true; the psychiatric needs of persons of all ages with intellectual disability are largely unmet. Approximately 1.5 million persons aged 5-65 years received services for mental retardation in the United States. Assuming that at least 40% of these individuals have emotional or behavioral problems, approximately 600,000 people can benefit from psychiatric care. Unlike in the past, because most people with mental retardation no longer are living in institutions, psychiatrists have a very important role in enhancing their quality of life in the community, thereby reducing the need for multiple institutionalizations.
Evaluation and treatment of psychiatric emergencies in individuals who are developmentally disabled pose additional challenges. The goal of crisis intervention is the same as in the general population, ie, to reduce the risk of harm to self/others and to accomplish this objective in the least restrictive setting. For optimum results, the assessment and treatment of patients who are mentally retarded should include the input of the primary caregivers. Psychiatrists who are unaccustomed to the usual presentation of mental retardation may be nonplussed by the clinical manifestations of psychiatric emergencies in these patients. Limitations in cognition and verbal expression make it difficult for patients to describe abstract concepts such as mood, guilt, and ideas of reference. Sovner identified 4 aspects of mental retardation that may influence diagnosis, as follows:
To reduce distraction or overstimulation, evaluations of the patient are best performed in a safe quiet area, away from the prying eyes and ears of other staff and patients. Care providers should be included in the assessment process because they can be a calming influence on the patient and they can provide valuable information. Taking a biopsychosocial approach to problem solving should lead to interventions that address biological, psychological, and social factors that caused the crisis situation. While resolving every aspect of the crisis is not necessary, identifying and addressing the main concerns of the caregivers is important. Once the immediate crisis is resolved, the remaining problems can be referred to community or state agencies. Lowry and Sovner describe 4 functions of problem behavior that should be considered in any evaluation, as follows:
Emergency evaluation should include a thorough physical examination, including appropriate laboratory studies such as electrolytes, blood count, ECG, drug levels, and sometimes CT scans or MRI and electroencephalogram. Psychiatric assessment, consisting of history from the patient and caregivers and a mental status examination, helps establish a correct diagnosis. When possible, treatment should be directed at the medical illness, psychiatric disorder, or other underlying cause of the maladaptive behavior. Symptomatic treatment of aggressive behavior often is necessary and helpful when a clear-cut medical or psychiatric diagnosis cannot be established. Based on the emergency evaluation, any of the following dispositions may be agreed upon:
Changes in the legal, institutional, and financial structure of psychiatric care have set a higher threshold for inpatient hospitalization. As in the general population, hospitalization clearly is indicated when a person poses an imminent danger to themselves or to others because of a psychiatric illness. Hospitalization also may be indicated when outpatient treatment has been unsuccessful in halting a psychiatric decompensation or when a psychiatric illness has progressed to the point that the person no longer is able to function adequately in the community. Obtaining hospitalization for extended medication trials or for initial monitoring of a new course of pharmacologic treatment is becoming increasingly difficult, despite the fact that hospitalization may be appropriate in some of these situations. Finally, Sovner and Hurley make clear the opinion that inpatient staff should not be expected to assume responsibility for the treatment of long-standing maladaptive behavior. They support discharging the patient from the hospital as soon as the crisis has resolved. |
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The current trend toward deinstitutionalization in the care and management of individuals who are mentally disabled predicts that the majority of patients will live in a community setting with a good deal of assistance. Adequate management of their psychiatric problems is essential to prevent institutionalization and to enhance their quality of life as full participants in society. Psychiatrists play a key role in the long-term outpatient care of mental illness in people with developmental disability. Ideally, the team of caregivers should include a psychiatrist, primary care physician, psychologist, social worker, nurse clinician, case manager, occupational therapist, vocational counselor, home provider, and family member who work together to ensure the best outcome. While all these individuals may not be located in one place, their input should be sought and coordinated by the case manager when developing a comprehensive treatment plan. Use of psychotropic medications to treat behavioral problems of patients who are developmentally disabled often has been controversial. Even clinicians who are convinced of the beneficial effects of certain psychotropic medications in the treatment of persons who are mentally disabled prefer to use such agents only when a specific DSM-IV-TR diagnosis is present. While this would be the perfect ideal for which to strive, it may not always be feasible. When a DSM-IV-TR–oriented diagnostic approach yields no more than a relatively nonspecific diagnosis (eg, impulse control disorder not otherwise specified [NOS]), particularly in those with more severe mental retardation, clinicians may have to focus on abnormal behavioral symptoms as indications for choosing psychotropic medications. These problems include self-injurious behavior, physical aggression, impulsivity/hyperactivity, suicidal ideation/behavior, sexually aggressive behavior, sexual self-exposure/public masturbation, social withdrawal, excessive dependence, noncompliance/oppositional behavior, and self-induced vomiting. Assessment of Mental Illness in Persons with Mental RetardationThe psychiatric diagnostic evaluation of persons with mental retardation is, in principle, the same as for persons who do not have retardation. The diagnostic approaches are modified, depending on the patient's cognitive level and, especially, communication skills. For persons who have mild mental retardation and good verbal skills, the approach does not differ much from diagnosing persons with average cognitive skills. The poorer the communication skills, the more one has to depend on information provided by caregivers familiar with the patient and on direct behavioral observations. The assessment includes the following components. Comprehensive history The history taken from the patient and from several caregivers in different settings covers the following:
Patient interview Ample time must be allotted for the patient interview, which typically takes longer than for patients without mental retardation. Sufficient time is needed to put the patient at ease. The verbal examination should be adapted to the patient's communication skills and should use clear and concrete language, structure, reassurance, and support. Leading questions and questions requiring yes or no answers should be avoided, and the interviewer should ensure that questions are understood. Patients with sensory impairments such as blindness or deafness must be approached in a manner that recognizes their needs through the use of appropriate interpreters or communication devices. Mental status may be assessed in the context of conversation, rather than in a formal examination. Starting the interview with a discussion of a patient's strengths and interests, rather than problems, often is helpful. Later, focus on the patient's understanding of disability, limitations, and reasons for the referral. Nonverbal aspects of the interview include observations of performance on selected tasks, relatedness, expression of affect, impulse control, attention span, activity level, and the presence of unusual behaviors or seizures. Medical review This review should include developmental and medical history, past etiological assessments, and coexisting general medical disorders and their treatments. The latter is particularly important because undiagnosed medical conditions are frequent in this population and may lead to behavioral symptoms. Diagnostic formulation Data from the assessments should be interpreted in light of developmental level, communication skills, associated handicaps, life experiences, education, and family and sociocultural factors. A particular behavior may suggest an underlying mental disorder if it is part of a pattern of a defined mental disorder syndrome. The possibility of sexual or other abuse that the patient cannot report should be considered. A DSM-IV-TR diagnosis (in addition to mental retardation) should be made if the appropriate criteria are met. The diagnostic statement should include a description of the person's strengths, deficiencies, and needs, including intellectual, adaptive behavior, communication, health, and psychosocial domains. A comprehensive assessment should yield a multiaxial diagnostic formulation with appropriate differential, and supporting evidence for diagnoses should be highlighted. Specific Diagnosis of Common Comorbid Mental DisordersPervasive developmental disorders The majority of children with pervasive developmental disorders also have mental retardation. However, children with mental retardation alone do not have significant impairments in reciprocal social interaction and can engage in social communication, verbal or nonverbal (such as gestures and eye contact), appropriate to their developmental level. Attention deficit hyperactivity disorder The diagnostic criteria for attention deficit hyperactivity disorder (ADHD) are based on observable behavior as reported by multiple informants and thus can be applied to nonverbal children. ADHD should be differentiated from situation-specific inattentiveness, such as at school if the academic expectations are too high, and adverse medication effects. In assessing noncompliance, ie, not following commands of caregivers, one should consider the child's ability to understand social rules and the presence of sufficient skills to communicate opposition. Tic disorders and stereotypic movement disorder In Tourette disorder, the movements, as opposed to self-stimulatory stereotypies seen in persons with severe mental retardation, are less complex and appear involuntary. For the latter, the diagnosis of stereotypic movement disorder may be used if other mental disorders are excluded. The specifier "with self-injurious behavior" is added if bodily damage results. Self-injurious behavior is common in certain mental retardation syndromes, especially Lesch-Nyhan syndrome. Mental disorders due to a general medical condition Mental retardation, in and of itself, does not constitute a medical condition to which aberrant behavior or emotional disturbance should be ascribed. The attribution of behavioral or emotional disturbance to a general medical condition should be used only when evidence from the history, physical examination, or laboratory findings indicates that the disturbance is a direct consequence of a specific medical condition. For example, in the case of Down syndrome, hypothyroidism may present as symptoms of depression. In such cases, the medical disorder to which the depression should be attributed is hypothyroidism, not Down syndrome. Schizophrenia and other psychotic disorders Schizophrenia can be diagnosed in the usual manner in verbal persons with mild mental retardation but rarely, if at all, in persons with more severe retardation. For the latter, the less specific diagnosis of psychotic disorder NOS may be made if behavioral features such as grossly disorganized behavior and negative signs are present but were absent in the premorbid period. Conversation with an imaginary friend should not be confused with hallucinations. Mood disorders Mood disorders, especially depressive disorders, are quite common in persons with mental retardation. In verbal persons with mild mental retardation, the complaints are simple and concrete. History obtained from caregivers and evidence of neurovegetative signs help in assessing the mood change. Depression also may manifest as aggressive behavior. Environmental events, such as a precipitous move to a new setting or change in care provider, may trigger a depressive episode. Adverse effects of medications should be considered, for example, depression resulting from beta-blockers or agitation associated with akathisia from a neuroleptic drug. Anxiety disorders Verbal persons with mild mental retardation can report on subjective feelings of anxiety. In nonverbal persons, symptoms such as avoidance behaviors and agitation might suggest the diagnosis. The tendency toward anxiety and social avoidance also is a part of the behavioral phenotype of fragile X syndrome. Posttraumatic stress disorder Posttraumatic stress disorder in persons with mental retardation might be quite frequent and should be routinely considered in the differential diagnosis. These individuals are vulnerable to abuse because of difficulties in reporting it and a tendency to want to please others. Obsessive-compulsive disorder The diagnosis of obsessive-compulsive disorder (OCD) may be difficult in nonverbal persons who cannot report on obsessional thoughts underlying their compulsions. Some repetitive behaviors, for example, hoarding objects, flicking lights on and off, and tidying and arranging, all have been suggested as indications of OCD in persons with mental retardation. Self-restraint, for example, insistence upon wearing a helmet or other protective device, is a behavior that has been described in persons who also exhibit self-injurious behavior and might suggest the ego-dystonic nature of self-injury. A connection between some self-injurious behaviors and OCD has thus been postulated. Eating disorders Anorexia and bulimia nervosa are relatively rare in the context of mental retardation, particularly moderate to severe mental retardation, but mental retardation is a predisposing factor for other eating disorders such as pica and rumination. The ingestion of nonnutritive substances, pica, and the regurgitation and rechewing of food, rumination, occur with greater frequency as the severity of cognitive disability increases. When these behaviors are a focus of clinical attention, the diagnoses should be considered.
Table 1, which appears in the Expert Consensus Guidelines series, “Treatment of Psychiatric and Behavioral Problems in Mental Retardation," lists stressors that may trigger problems in individuals who are mentally retarded. A complete evaluation and an individualized treatment plan require attention to the possible short-term and long-term stressors that may be triggering or exacerbating psychiatric disorders or behavioral problems in persons with mental retardation. Although none of the stressors listed in Table 1 is specific to individuals with mental retardation, each is more likely to occur and cause difficulties in those whose coping skills already are compromised substantially. Helping the individual, family, and caregivers deal with or eliminate stressors sometimes may be the primary target of treatment, and this often opens the door to a realization of other treatments that may be necessary. Table 1. Stressors That May Trigger Behavioral Problems
With increasing severity of mental retardation, the incidence of concomitant sensory and motor deficits increases. A greater degree of mental retardation suggests a greater amount of brain damage, reflected in a higher occurrence of impaired vision, hearing, and speech and communication and a higher occurrence of seizure disorders. Substance abuse is not unheard of among patients who are mentally retarded. A comprehensive treatment plan should include interventions to address these problems.
Multidisciplinary treatment teams use a variety of psychosocial modalities to address behavioral problems experienced by patients who are mentally retarded. The 3 behavioral interventions recommended by the expert consensus panel for most situations are as follows:
Local sources of information Depending on the state, clinicians and families can obtain information on local services, other resources, and entitlement to services from the state department of mental retardation, the state department of public health, or the state department of education. University-affiliated programs for persons with developmental disabilities These programs, located in all states, focus on providing clinical services, training professionals, and performing research related to developmental disabilities. Clinicians might refer patients to such programs and/or use them as sources of information about services in their areas. The addresses and details about the university-affiliated programs may be obtained from the following organization: American Association of University Affiliated Programs for Persons With Developmental Disabilities
National organization for persons with developmental disabilities
The national organizations concerned with services for persons with developmental disabilities and their families can provide addresses of the local chapters, which might be a good source of information concerning local services. Some of these organizations include the following:
ARC (formerly Association for Retarded Citizens)
Autism Society of America National Down Syndrome Congress Williams Syndrome Association National Fragile X Foundation
In many cases, behavioral problems respond to psychosocial interventions. However, situations exist in which psychotropic medications can enhance a patient's response to psychosocial treatment. Other clinical conditions require psychopharmacologic treatment at the outset.
Psychiatrists are well aware of the psychopharmacologic management of various mental illnesses that meet DSM-IV-TR diagnostic criteria. A number of excellent textbooks, review articles, and practice guidelines are available on this topic, and detailing these is beyond the scope of this article.
The literature often is limited or contradictory regarding the use of medications in the management of behavioral problems in patients who are mentally retarded and who do not meet criteria for DSM-IV-TR diagnosis. Therefore, this section draws from the Expert Consensus Guidelines series, “Treatment of Psychiatric and Behavioral Problems in Mental Retardation." These guidelines are based on surveys of 48 experts on psychosocial treatments and 45 experts on medication treatment of mental retardation. These recommendations do not replace clinical judgment, which must be tailored to the particular needs of each patient.
The US Health Care Financing Administration recognizes that the use of medications sometimes is the least intrusive and most positive intervention, but it does not specify the circumstances when medication is an appropriate part of the initial treatment plan. The combined ratings of the psychosocial and medication experts agree that medication definitely is indicated from the outset for patients with psychotic, bipolar, and major depressive disorders; medication may be indicated for a number of other DSM-IV-TR disorders.
There is less general enthusiasm for the use of medications at the very onset of symptoms that are not part of a DSM-IV-TR disorder, and the 2 groups of experts disagree on this issue. The medication experts are somewhat more likely to recommend the use of medications at the beginning of treatment for several target symptoms, even when no specific DSM-IV-TR diagnosis can be made. Table 2 lists clinical situations in which including medications in the initial treatment plan is beneficial.
Table 2. When to Include a Medication in the Initial Treatment Plan Experts were asked about the choice of medications when behavioral symptoms are present in a patient for whom a DSM-IV-TR diagnosis cannot be made and the symptoms (1) have not responded adequately to appropriate behavioral and environmental interventions and (2) remain severe and persistent enough that medication treatment definitely is indicated. The recommendations of the experts are summarized in Table 3.
Table 3. Selection of Medications for Target Symptoms
When All Else Fails: Consider Clozapine
Clozapine is an atypical or second-generation antipsychotic medication that has been well accepted for the treatment of patients with schizophrenia who fail to respond to all other antipsychotic medications. Clozapine was not mentioned in the Expert Consensus Guidelines, as at the time the guidelines were written, not much data existed on its usefulness in mentally retarded individuals.
More recently, a growing body of literature has been suggesting the usefulness of clozapine in treating developmentally disabled patients who do not respond to conventional medications and behavioral interventions.
Because clozapine exposes patients to potential risks, such as agranulocytosis, myocarditis, cardiomyopathy, seizures, and metabolic complications, psychiatrists have been reluctant to prescribe it to patients with mental retardation, especially in the absence of treatment guidelines in the literature. Fortunately, such a guideline is now available (Sabaawi, 2005).
By and large, a dose of 300-600 mg seems to be useful for patients when a minimum clozapine blood level of 350 ng/mL is attained. The guideline recommends strategies for using clozapine in developmentally disabled individuals with treatment-resistant cases of schizophrenia, self-injurious behavior, aggressive/destructive behavior in the absence of psychotic symptoms, abnormal involuntary movements, or polydipsia.
Common side effects include weight gain, orthostatic hypotension, tachycardia, fever, sedation, constipation, hypersalivation, and myoclonic jerks. Significant drug interactions such as the following and other issues are discussed at length in the guidelines:
In spite of these drawbacks, clozapine can be a valuable addition to the psychopharmacological choices when confronted with a patient whose behavioral problems do not respond to conventional medications and behavioral interventions.
Treatment teams in long-term institutions have developed a variety of interventions for managing behavioral problems of mentally retarded people. These have ranged in complexity from simple one-step plans to multiple-step strategies. Positive reinforcement by rewarding desired behaviors or negative reinforcement by ignoring unwanted behaviors are often effective when applied consistently. More challenging problem behaviors require gathering detailed information, data analysis by experienced behavioral specialists, and implementing sophisticated strategies by trained treatment team members.
Ethical, social, legal, and regulatory barriers to medicating developmentally disabled individuals resulted in the growth of a whole field of behavioral management. Results of well-controlled research studies document these strategies in peer-reviewed journals. For the same reasons, psychopharmacological approaches to treating behavioral problems of mentally retarded patients have been mostly on a trial and error basis.
As more and more mentally retarded people are discharged from large institutions to live in the community, a tendency exists to rely more on medications and less on behavioral interventions. This is caused in part by the lack of experienced behaviorists in community settings. Further aggravating this problem, many group home providers have limited training and experience in systematically implementing behavior management plans.
Nevertheless, it is very beneficial to the patient if the psychiatrist, who is often the treatment team leader, is able to integrate psychopharmacological interventions with behavioral approaches. At times, this might require consulting behavioral specialists who might not be at a particular clinic. At other times, it might require guiding the care providers in the rudiments of behavioral management.
Psychopharmacological approaches and behavioral modalities can work independently or interact in beneficial or detrimental ways. As this topic is beyond the scope of this article, interested readers are referred to a publication by Sevin et al (2001).
Effective communication between treatment team members over a prolonged period of time is essential for the best outcome. A sample clinical encounter form is included below in Table 4. This form is to be used as a worksheet and should not replace usual documentation (eg, progress notes). Rather, it should be used to highlight clinical information of immediate importance. Having the worksheet in 2 parts is best.
The top portion should contain clinically useful data that are not likely to change often as the patient returns for follow-up visits. Ideally, this form should be saved as a word processor file in a personal computer so that it can be printed out for use during each visit. Team members should make brief notations in the lower section to alert others on the team regarding pressing issues and plans. The form also serves as a brief note until more complete notes are written.
Table 4. Sample Clinical Encounter Form Mental Status: Medications: Plan:
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