ELSEVIER

Medical Evaluation of Persons With Retardation Referred for Psychiatric

Ruth Ryan, M.D., and Kayo Sunada, M.D.

Abstract: Many people wifk developmenfuaf disabilities and “challenging behaviors” present to primary care physicians, internists, OY general psychiatrists for assessment and freaf- menf. These clinicians seek to provide the comprehensive bio- psychosocial assessment necessa yfor successful treatment, but may encounter interference from funding agencies. Epidemio- logic data on medical comorbidify in persons with developmen- tal disabilities with a primarily “behavioral” presentation may assist in facilitating these assessments 111. A total of 1135 people with mental retardation referred for mental health as- sessment were medically evaluated according to a two-step protocol which included a screening evaluation of all persons and expanded testing, depending on clinicnl status. The workup was considered complete when the person with either improving clinically or had a specific terminal diagnosis and was as comfortable as possible. Medical comorbidify was about double that of people referred for mental health assessment who do not have mental retardation. Common conditions presented in unusual ways, and less frequent conditions presented more often. The cost of the medical assessments was promptly recov- ered in a variety of savings to systems. Comprehensive medical assessment discloses increased medical comorbidify in persons with mental retardation referred for psychiatric evaluation. Comprehensive treatment based on the assessment findings appears to be associated with better clinical outcomes and cost savings to systems. 0 1997 Elsevier Science Inc.

Introduction

Interest in and emphasis on specific and compre- hensive biopsychosocial diagnosis of psychiatric ill- ness among individuals with mental retardation have increased lately [l]. In the past, many consid-

Consultative Mental Health Services to Persons with Devel- opmental Disabilities in Programs for Public Psychiatry (RR) and Colorado Division for Developmental Disabilities (KS), Denver, Colorado.

Address reprint requests to: Ruth Ryan, M.D., UCHSC Pro- grams for Public Psychiatry, 4200 East Ninth Ave C-249-27, Denver, CO 80262.

274 ISSN 0163~8343/97/$17.00 PI1 SO163-8343(97)00023-6

Mental Assessment

ered the total behavior of these individuals to de- rive from their disability, that is, from “retarda- tion.” This form of diagnostic overshadowing [2] is not fruitful with regard to personal or systems out- comes. Many caretakers were convinced that the people they served experienced stress due to undi- agnosed or undertreated nonpsychiatric medical problems. These caretakers strongly suspected that careful assessment and treatment would reduce stress and lead to better outcomes.

Nonpsychiatric medical conditions represent a significant influence on behavior. Of the persons labeled as chronically mentally ill, 20%-40% suffer with one or more medical illnesses that may cause or exacerbate the psychiatric symptomatology [3-51. There have been recommendations for in- creased awareness of psychiatric presentations of medical conditions [6] and for a more systematic medical evaluation of persons labeled as chroni- cally mentally ill [7].

Persons with mental retardation have more med- ical problems than other people, and prompt treat- ment of these problems is associated with better survival [8,9]. As information increases in under- standing people with developmental metabolic conditions, more are identified who may be treat- able for causes of mental retardation per se [lo]. Thus we hypothesized that persons with develop- mental disabilities and mental health needs have more medical problems than people with mental retardation or mental health needs alone.

Methods

A total of 1135 adults with mental retardation re- ferred for psychiatric assessment were simulta- neously reviewed regarding coinciding medical conditions. The sample includes all persons re-

General Hospital Psychiatry 19, 274-280, 1997 0 1997 Elsevier Science Inc. All rights reserved.

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Medical Assessment in Mental Retardation

ferred from January 1990 to September 1996 to an interdisciplinary, on-site team evaluation clinic [ 111 which is designed for those with mental retardation who have been described as especially behaviorally challenging Though assumed to be physically well, these individuals had been receiving routine care only. The medical evaluation involved two steps. Step I involved a physical examination (including neurologic, genital, dental), chest x-ray examina- tions, review of medical history, and screening lab- oratory studies. The screening studies included thyroid-stimulating hormone, T3, T4, electrolytes, liver function studies, complete blood count, anti- nuclear antibody, erythrocyte sedimentation rate, amylase, vitamin B12 level, folate, and urinalysis. The next step involved additional testing depend- ing on the nature and presence of individual symptoms. The termination of the assessment was determined by clinical response to appropriate treatment. The workup was considered complete when the person’s symptoms were sufficiently ex- plained and when he or she was either getting well or had a specific terminal diagnosis and was com- fortable.

Test Protocols

Medical assessment algorithm (tests following the routine screen)

Any atypical features in a primarily psychiatric pre- sentation: MRI scan of the brain (unless other infor- mation suggests investigation for microcalcifica- tions; CT is used in this case), EEG, copper, ceruloplasmin (the last two if there was tremor or liver function abnormalities).

Any dysmorphic features, odd food refusals, odd body odor not explained by hygiene or diagnosed illness; a family history of multiple miscarriages and/or develop- mental disability and/or physical anomalies (metabolic developmental screen): serum and urine amino acids, organic acids, and mucopolysaccharrides; very long chain fatty acids, ammonia, lactate, pyruvate, aryl sulfatase, and white cell enzymes. Chromosome studies are directed by specific clinical questions (directing high resolution studies, growth on spe- cial media, DNA probes, or others).

“Spells” events that are clearly not generalized tonic- clonic or absence seizures: videotape of episodic event is obtained. Most “spells” are found to be related to anxiety disorders (such as posttraumatic stress dis- order) or tic disorder, however, if any features are atypical or treatment is ineffective, test selected in- cluded EEG, EKG, pulse oximetry.

Intermittent fatigue: MRI of the brain or LP re multiple sclerosis, viral titers (including HIV), and routine chemistries; serum protein electrophoresis, glucose tolerance test, lactate, pyruvate, carnitine, parathyroid hormone level, calcium, EKG. If phys- ical exam was suggestive, would look for Prader Willi as well.

Ataxia: Carnitine, neck films for atlantoaxial dis- location, heavy metals, and everything on the “fa- tigue” list.

Intermittent joint szuelling, arthralgias: antinuclear antibodies, erythrocyte sedimentation rate, rheu- matoid factor, complement levels, Sjopcen’s, Lyme screen, TB screen, syphilis screen.

Paresthesias (sometimes seen as self-binding tLt anes- thetize): levels of vitamin Bl, B2, B6,” 812, folate, niacin, pantothenic acid, phytanic acid. If unreveal- ing proceed to EMG and full metabolic screen.

Snoring, history of airway obstruction or brain in- jury: sleep study re sleep apnea or other dyssomnia.

Flushing, rash, other autonomic synzptc~ms: tests to rule out pheochromocytoma, carcinoid, porphyria, autoimmune, Lyme, TB, syphilis, HIV, other viral.

Splinting/guarding/targeted selfinjury: these were thought to possibly represent signals regarding pain, and thus the specific site was evaluated re- garding possible pain. An example was peptic ulcer disease detected in a person who was referred for “inappropriate scratching of his stomach area.”

Follow-up of obvious physical signs: for exainple, a person with hirsuitism, rounded face, accumulation of fat between the shoulder blades, ccntripetal weight gain, and pigmented striae would be eval- uated for Cushings.

Results

Individuals with a wide variety of economic and cultural backgrounds resided all over the state of Colorado. Average age in the sample was 32.9 years, and average degree of cognitive impairment was moderate to severe mental retardation. About half were nonverbal and 45.5% were receiving non- psychiatric medications that can potentially cause problematic psychiatric symptoms (e.g., beta block- ers for hypertension, which can cause depression with long-term use). A large number (75.0%) suf- fered from one or more medical problems, almost all of which remained undiagnosed or und.ertreated until the assessment. Almost all of the people in the sample had had no diagnosis other than “mental retardation.” The most common psvchi.atric diag-

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noses were anxiety disorders (including posttrau- matic stress disorder) and depression.

Table 1 lists the most common medical condi- tions seen. Table 2 lists the developmental syn- dromes identified. Table 3 lists the less common conditions seen. Table 4 lists conditions seen in three or fewer instances.

Discussion

The physical symptoms discovered were rarely part of the patients’ chief complaints. These usually re- lated to symptoms that were sufficiently disturbing to the caretakers, but the presence of even a very obvious physical symptom (such as ongoing sei- zure activity) was not detected until the team eval- uation. There are several signs that indicated un- derlying medical conditions and significantly influenced behavior:

Those causing movement disorder, e.g., Tourette’s syndrome, where verbalization, complex tics, and obsessions may be noted and incorrectly attributed to some other psychiatric disorder [ 121. Those causing psychiatric symptoms that meet the criteria for a psychiatric disorder, e.g., cen-

Table 1. Most common conditions seen

Conditions % of cases

Epilepsy (undertreated or undiagnosed)

Hypothyroidism Tourette’s syndrome Gastroesophageal reflux Severe closed head trauma Chronic pain Cerebral palsy (complicated) Open brain injury Abnormal (spike-wave) EEG Arthritis (autoimmune) Hypertension, symptomatic Scoliosis (untreated) Peptic ulcer disease Insulin-dependent diabetes mellitus Asthma (severe) Anemia Hydrocephalus Stroke Hepatitis Sleep apnea Migraine

45.8 12.7 11.5 9.7 8.8 8.7 6.5 6.3 5.4 5.0 4.7 4.1 4.0 3.5 3.0 2.8 2.8 2.7 2.2 1.9 1.8

Table 2. Developmental syndromes seen

46Xy ring 22

4P- Albinism Amniotic band syndrome Angelman’s Arnold-Chiari malformation Bardet Biedl Charcot-Marie-Tooth CHARGE Association Chromosomal abnormalities, familial, unnamed CMV, congenital Cocaine exposure Coffin-Lowry Cornelia DeLange Craniosynostosis Cri-du Chat Dandy-Walker malformation/cyst Down’s Dubin-Johnson Fetal Alcohol syndrome Fragile X Klinefelter’s Klippel-Feil Lesch-Nyhan Marfan’s Metabolic disorders (various, treated with diet changes) Moebius Mucopolysaccharidoses Neurofibromatosis Noonan’s Phenylketonuria Prader-Willi Refsum’s Rett syndrome Ring 18 chromosome Congenital Rubella Rubenstein-Taybi Smith Magenis Stein-Leventhal Tuberous sclerosis Turner’s Tyrosinemia Waardenburg’s Wagner-Stickler Werdnig-Hoffman Williams’

tral nervous system systemic lupus erythema- tosus, where the illness may cause symptoms of hallucinations and lability of mood. This ini- tially may be indistinguishable from an affec- tive disorder 1131, but responded to specific treatment for lupus where no therapeutic re-

Medical Assessment in MentzI Retardation

Table 3. Less common medical conditions (4-14 [15]; this is by far the most common mechanism people) of influence.

Chronic hypoxemia (various etiologies) Chronic obstructive pulmonary disease Cardiac great vessel disease Non-insulin-dependent diabetes mellitus Chronic otitis media Status post-total abdominal hysterectomy in

adolescence/no hormone replacement Wilson’s disease Status post-neuroleptic malignant syndrome B12 deficiency Parkinson’s Mitral valve prolapse Hyperthyroidism Esophageal stricture/tears Congestive heart failure Renal insufficiency Mastoid& Severe dental abscesses, undetected on surface exam Beriberi Encephalitis ---

sponse was seen to standard treatment of an affective disorder. Cases where all of the per- son’s psychiatric symptomatology remitted with treatment of a primary medical condition alone include 74 persons (6.5%) with chronic arthritic pain, 56 (4.9%) with bipolar disorder due to medical problems, 49 (4.3%) with de- pression due to medical problems, 37 (3.3%) with impulse control problems due to medical problems, 22 (2.2%) with anxiety disorders due to medical problems, 21 (1.9%) with delirium alone, 18 with psychosis due to medical prob- lems, 5 with obsessive-compulsive disorder due to medical problems, 4 with excess sedation alone, 1 with dyssomnia due to medical prob- lems, and 1 person with tic disorder due to medical problems.

3. Another group caused a feeling state or other specific symptoms that influence behavior, e.g., the fatigue, lethargy, and irritability resulting from hypothyroidism. The symptoms might not meet the full criteria for a psychiatric con- dition, but be notoriously associated with sig- nificant behavioral changes [ 141.

4. Conditions conferring treatment resistance of the psychiatric conditions in the face of un- treated physical illness, e.g., the unresponsive- ness of persons to treatment of major depres- sion if even subtle hypothyroidism is present

There is a mistaken view that the diagnosis of a specific developmental/metabolic syndrome was “unimportant,” as nothing further could be done to improve cognitive capacity. However, it was re-

warding to diagnose a specific developmental syn- drome or indicate that an individual with a previ- ously diagnosed developmental syndrome could be at risk for specific underlying medical conditions that were contributing to the observed behaviors or symptoms. An example was the diagnosis of Prader-Willi syndrome in those who had not pre- viously been diagnosed, which could arouse in- creased clinical suspicion regarding sleep hypoven- tilation, much more common in this svndrome. Another reason it was rewarding to &a&se de- velopmental syndromes was so that persons could be offered more specific treatments for discomfort specific to the syndrome(s), e.g., the sensory motor integration protocols which are often helpful for people with fragile X syndrome.

The more commonly seen and hitherto undiag- nosed or undertreated medical problems were sei- zure disorders and endocrine conditions. This find- ing is similar to those confirmed in a smaller and somewhat more selected sample [16]. Sometimes the presence of untreated epilepsy was known, yet proper treatment had been discouraged. There are significant psychosocial problems associated with undertreated epilepsy [17-191, and the authors’ ex- perience once again confirms this. If epilepsy was fully controlled with nontoxic medications (usually newer anticonvulsants at usual anticonvulsant blood levels; phenytoin and barbiturates were al- most always avoided) the epilepsy was not tabu- lated as an ongoing influence on mental health. In 43 persons (3.8 % of the entire sampie), seizures were the sole cause of the behavioral symptoms. More commonly, seizures were one of many prob- lems faced by the person, and adequate treatment

of seizures was necessary for other problems to respond to treatments.

Hypothyroidism often presented initially with ir- ritability and violent behavior. We observed a ten- dency for some medical providers to LISP sedatives and suppress disturbing behaviors, rather than re- fer the person for full evaluation. Some providers still believed the outdated notion that people with mental retardation do not feel pain. The issues re- garding diagnosis of closed head traItma or sfruc-

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Table 4. Selected medical problems seen in three or fewer people

Renal failure Pelvic inflammatory disease Episodic cardiac arrhythmia Multiple sclerosis Rectal prolapse Colon cancer Pancreatic cancer Pituitary adenoma Hypoparathyroidism Pancreatic failure Transient ischemic attacks Interstitial fibrosis Polymyositis Folate deficiency Hypoglycemia Endometriosis Carnitine deficiency

GYN malignancies Pancreatitis Syncope Keratoconus Cataracts (severe) Diabetes insipidus Pre-leukemic anemia Osteoporosis Prostatisl’recocious puberty Rectovaginal cancer Hypothalamic hamartoma Acromegaly Dandy Walker cyst Chronic torticollis Venereal herpes Gout Gushing’s disease

Cellulitis Chronic Epstein Barr infection Congestive heart failure Serotonin syndrome Vitamin B6 deficiency Atlantoaxial dislocation Porphyria Lung cancer Dermoid /brain Chronic EBV neurosyphilis AVM Viral encephalitis Sarcoidosis/CNS Aluminum toxicity Polycystic ovaries Sprue

tural brain damage often revolved around a lost history of head injury or psychosurgery.

In all those with Tourett’s disorder there was documented evidence of complex motor and vocal tics since childhood, yet none were diagnosed. Many had been aversively “programmed” and punished severely over the years for the involun- tary behaviors. Women had had total hysterecto- mies in childhood or adolescence, without subse- quent hormone replacement. They had all been surgically sterilized, which is no longer legal in this state. The operation was done for the sole reason that caretakers were reluctant to provide hygienic care around the menses. All of these patients had pain, fatigue, and depression, which seemed to re- late to the surgically caused menopause and com- plications such as osteoporosis.

Examination of old pictures of clients raised a suspicion of possible acromegaly or in other cases, progressive malignancy. In several instances dra- matic weight loss had occurred, but the person’s behavioral expressions of discomfort (sometimes involving property destruction or other violence) were reportedly so compelling and distracting that evaluators did not proceed with standard workups. (“I never saw a person with cancer acting that way” was one comment). Almost all of the malignancies were detected in advanced stages, though the per- son’s behavioral signs of distress had been present for some time. There was concern that definitive cure might have been possible had the diagnoses been made earlier.

Deficiencies of vitamin Bl (thiamine) and other nutritional problems were found in well-fed per- sons who did not abuse drugs or alcohol. When adequately treated, the recovery of cognitive skills, memory, mood, and physical symptoms was more prompt and complete than was expected.

Outcome

The specific reason for referral for assessment in all cases was a behavioral deterioration. All had re- ceived at least one attempt at treatment or suppres- sion of symptoms by nonspecific sedation. Most had been seen repeatedly in doctors’ offices, emer- gency rooms, psychiatric units, or police stations. Some had been placed in nursing care facilities for behavioral deterioration after being unable to func- tion independently any longer. Over the long term, missing or overlooking a medical condition that contributed to the behavioral change or psychiatric symptoms does increase costs for daily residential and program supervision (staffing, medical treat- ments, adaptive devices, and so forth).

In Colorado the reimbursement rates for commu- nity residential services are tied to the need for in-house services. The reimbursement rates for adult residential services range from a low of $24.93 to a high of $141.41. The rates reflect increasing needs for specialized services.

Individuals with serious behavioral concerns, or disabling psychiatric symptoms often require the most specialized residential facility supervision.

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Apart from the human suffering, if the behavioral symptoms continue because of unattended medical issues, there is often a prolonged and unnecessary stay in the specialized residential facility. These increased costs are also reflected in supported day programs, which require increased supervision. Even over the short term, the costs of further diag- nostic studies are justified when the individual is able to move to a less restrictive facility. Healthier persons were also able to obtain paying jobs or worthwhile community volunteering positions. The cost effectiveness of complete medical evaluation is clearly demonstrated when measured against the costs of unnecessary disability and consumption of resources in other areas of the healthcare system.

Clinical outcome studies have been completed which measure comprehensiveness of care against the results in several life areas (Ryan and Shore, in preparation). The life areas include psychiatric symptoms frequency, quality of living situation, vocational function, subjective sense of well-being, social functioning, and physical health. These stud- ies indicate that significant improvement in all life areas requires comprehensive treatment of medical problems (and all other biopsychosocial issues). This is true even when the overt influence of the medical problem seems minimal.

Summary and Recommendations

Examination of these data suggest the following principles:

1.

2.

3. 4.

‘i &

6.

7.

The need for coinciding medical illness in per- sons with mental retardation is double that compared with the average psychiatric popula- tion. The initial presentation may be a change in behavior. Common conditions present atypically. Conditions considered “uncommon” may oc- cur more frequently. Findings on an abbreviated history and physi- cal exam may be minimal or absent. Until more is known about the long-term course of undiagnosed metabolic and other conditions, a greater than usual number of tests is necessary (in that history cannot yet be used to rule out conditions without definitive test- ing). The workup is considered complete when the person is improving or has a specific terminal diagnosis and is as comfortable as possible.

Medical Assessment in Vent;;1 Iirtardation

8. Diagnosis of developmental syndromes is use- ful for purposes of offering specific treatments and anticipating future medical risks. Stereo- typing must be avoided.

9. Assessment and treatment protocols should be further refined via careful epidemiologic data gathering and incorporation of regional and other risk differences.

10. The most common mechanisms by which med- ical problems influence behavior is indirect: they confer a nonspecific stress on the person’s system which interferes with the effectiveness of other treatments and programming the per- son is receiving.

11. Some mechanism for collection of complete past history, current review of s&ems, and collection of observations of significant others (case managers, family members, direct care staff, other close associates) is necessary.

12. Listening to the individual who can describe events is primary. Nonverbal individuals often will respond in revealing and significant ways using other means of communication; e,g,, fa- cial expressions, body movements, hand move- ments, drawings, and their use or paper and pencil. Unstructured observation time that al- lows the opportunity to understand the per- son’s communications is useful,

This study is limited in several respects. The pop- ulation is somewhat selected for persons who have attracted the attention of providers through increas- ing disability, unhappiness, or dramatic behaviors (often violent). individuals in this group have typ- ically not responded to at least one triai of routine diagnostic and treatment procedures. The data here are reported to indicate the variety (but not neces- sarily the specific percentages) ot conditions that may present in a cohort of persons considered chal- lenging. Further study is needed to develop these data for a randomly selected population of persons with developmental disabilities and mental health concerns.

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