A Nursing Challenge: Adult-Onset Tay-Sachs Disease

Diane Hamilton

Adult-onset GM, gangliosidosis (AOG), also labelled Adult-Onset Tay-Sachs disease, is a slowly progressing disease caused by a gradual accumulation of the GM, ganglioside in neurons due to defective hexasaminadose A. Recent re- search findings and clinical experiences suggest that AOG may be more wide- spread than previously believed. Moreover, the diagnosis of AOG is often delayed because patients present with psychotic symptoms that mimic dementia, schizophrenia, mania, and depression. Because AOG patients typically respond poorly to psychiatric drug therapy and the symptomatology is so diverse, nurses must design and implement nursing care that ensures safety, structure, and comfort. Copyright 0 1991 by W.B. Saunders Company

MAUROTIC familial idiocy (AFI) refers to a A clinically defined group of hereditary disor-

ders characterized by progressive visual loss, fail-

ure of psychomotor development, and varying

neurological disorders (O’Neill, Butler, Young,

Falk, & Bass, 1978). Through morphological and

biochemical criteria, several subgroups of the dis-

ease have been described that have in common the

excessive accumulation of GM, ganglioside in the

neurons. In the classic infantile Tay-Sachs disease,

a disorder inherited in an autosomal recessive man-

ner, there is a total absence of the enzyme hex-

osaminidase A (Hex A), resulting in an accumu- lation of GM, gangliosides, which leads to

symptoms of ataxic seizures and death. The juve-

nile form of Tay-Sachs disease results from a se- vere deficiency (rather than absence) of Hex A

leading to a similar but less malignant complex of

symptoms. While infantile Tay-Sachs occurs more

frequently among Ashkenazi Jews, the juvenile

form of Tay-Sachs has no ethnic predilection (O’Brien, 1983). Despite this difference, both

From the College of Nursing, Medical University of South Carolina, Charleston.

Address reprint requests to Diane Hamilton, PhD., R.N., Medical University of South Carolina, College of Nursing, 171 Ashley Ave., Charleston, SC 29425.

Copyright 0 1991 by W.B. Saunders Company 0883-9417/91/0506-0001$03.00/0

forms of Tay-Sachs disease are fatal by the second

decade of life.

In the past 2 decades, neurologists and geneti- cists have described the clinical, genetic, and bio-

chemical data that suggest a third variant of the disease, labeled adult-onset Tay-Sachs (AOG) or

adult GM, gangliosidosis (AGG) (Argov &

Navon, 1983; Rapin & Suzuki, 1976; Navon,

Kolodny, Mitsumoto, & Thomas, 1990). Previ- ously considered a rare syndrome, patients cur-

rently suffering from AOG are more frequently

admitted to psychiatric units for diagnoses of the

recurrent psychosis that is an integral component of the disease. The AOG patient presents both di-

agnostic and management challenges to psychiatric

and long-term health care clinicians.

AOG SYNDROME

AOG is a slowly progressing disease caused by a gradual accumulation of the GM, ganglioside in neurons, particularly the brain, due to defective Hex A. Like infantile Tay-Sachs disease, AOG has been found among the Ashkenazi Jews and is often considered to be due to a autosomal recessive in- heritance of a heterozygosity of the classic Tay- Sachs chromosome. Recently, researchers have re- ported that non-Jewish adults demonstrate Hex A deficiency (Navon et al., 1990). This finding sug- gests that AOG may be more widespread than pre-

382 Archives of Psychiatric Nursing, Vol. V, No. 6 (December), 1991: pp. 382-385

ADULT-ONSET TAY-SACHS DISEASE 383

viously believed and that the disease may be traced more broadly to eastern European ancestry (Greb-

ner, Mansfield, Raghavan, Kolodny, & Azzo,

1986; Navon et al., 1990; Praamstra, Wevers, Ga-

breels, Rotteveel, Renier, Sengers, & Lamers,

1990). AOG is a complex and subtle disorder. It fre-

quently affects more than one family member, but

with different manifestations (Navon & Argov,

1981; O’Neill, 1978; Willner, Grabowski, Gor-

don, Bender, & Desnick, 1980). And although pa-

tients may develop symptoms in their second de- cade, precise determination of age of onset is

difficult because the disorder is progressive (Argov & Navon, 1984). Moreover, while AOG is diag-

nosed by identification of a deficiency of Hex A in

the serum, fiboroblasts, and leucocytes, a conclu-

sive diagnosis is often delayed because the patients

present with psychotic symptoms that result in a misdiagnosis of schizophrenia or psychotic depres-

sion (Streifler, Golomb, & Gadoth, 1989; Lich- tenberg, Navon, & Wertman, 1988).

Patients suffering from AOG often report a

childhood history of stuttering, clumsiness, and

difficulty in climbing stairs. Parents of the patients

relate stories of short attention spans, rebellious-

ness, and acting out episodes during childhood

(Navon, Sandbank, Frisch, Baram, & Adam,

1986). Most AOG patients develop symptoms of motor neuron disease or psychosis during late ad-

olescence. When intentional tremors, proximal muscle weakness, a broad-based gait, and dysthar-

tric speech diminish functioning, the patient gen-

erally seeks help from the health care system. As the disease progresses, patients experience symp-

toms of retinal degeneration, acne, nystagmus, and

complaints of behavioral, occupational, and intel-

lectual degeneration. Although psychotic symp-

toms are common in AOG, the clinical picture is

diverse, with symptoms mimicking dementia, de-

pression, mania, schizophrenia, paranoid, and

anxiety states (Streifler et al., 1989).

Because AOG patients typically respond poorly to psychiatric drug therapy, the psychotic behavior

must be managed by skillful planning and inter- ventions of the interdisciplinary team.

CASE REPORT

Janelle, a 38-year-old woman, was admitted to a psy- chiatric unit when her mother reported a severe mental decline to the family physician. The patient, the second

sibling of Polish-born Ashkenazi Jewish family, was re- ported to have had an unremarkable childhood except for some rebellious behavior and clumsiness in grade

school. Janelle graduated from high school and entered

college to prepare for a career in teaching. After grad-

uating from college she taught 4th grade until the age of

34 years when symptoms of muscle twitching. unsteady gait, and bizarre behavior interfered with her function-

ing. At the age of 35 years, the patient was admitted to a psychiatric hospital for compulsive washing, halluci-

nations, and suspiciousness and was diagnosed with de-

pression.

Upon admission, Janelle was unkempt, euphoric. and displayed an inappropriate affect. Her gait was wide and

unsteady; she had a mild tremor, weakness of the limbs.

and nystagmus. She appeared moderately obese, had difficulty rising from a chair, and a pronounced stutter.

Although routine medical diagnostic tests (electrocardio-

gram, serum, and hematological studies, x-rays) were

normal, the initial psychometric testing using the Wechsler Adult Intelligence Scale showed a verbal score of 88. performance score of 87, and a full scale of 87.

The nursing assessment showed that Janelle had

ceased her teaching career 3 years earlier, relinquished

her apartment, and moved in with her parents. Her mother reported that the patient’s typical day included

rising at 4 a.m., watching television until 5 a.m., and

returning to sleep at 6 a.m. Janelle was unable to per-

form activities of daily living including bathing, eating.

walking, and changing the television channel. Her 70. year-old mother showered the patient once a week and

met her every need. The bathing became more than the mother could manage when Janelle’s rituals of cleaning

the shower handles and compulsive scrubbing interfered with the task of bathing. Moreover, the mother reported

that Janelle used seven rolls of toilet paper daily and would eat only prunes, diet cola, and eggs. When the feeding or bathing rituals were interrupted, the patient

displayed violent outbursts. Janelle would speak with no

one except her mother and had seemingly regressed to a

life of an infant: sleeping, eating, and crying.

When the team convened to plan the patient’s care, it

became clear that physicians were focused on the med- ical diagnosis, while nursing, occupational therapy. and

social work personnel focused on designing the care plan. The nurses’ documentation of behavior included observations of vertigo, falling, compulsive face wash- ing. angry outbursts. labile mood, ritualistic eating pat-

terns, unusual hallucinations, reversal of the circadian pattern of sleep, and stuttering. Therefore, the following

nursing diagnoses formed the matrix of problems to be managed: potential for violence to self and others, de- creased nutritional status, potential for injury, impaired mobility, potential fluid volume deficit, sleep pattern disturbance, altered thought processes, anxiety, fear, noncompliance, diminished daily functioning, altered

384

self-concept, potential fatigue, stuttering, impaired com-

munication, divisional activity deficit, defensive coping,

alteration of family processes, altered growth and devel-

opment, altered role performance, impaired social func- tion.

Nursing Care

Despite an established care delivery system of team nursing, primary nursing principles were used to design Janelle’s nursing care. Two profi- cient nurses and two technicians planned, imple- mented, and evaluated the care in order to provide continuity, consistency, and structure to the care. Nursing consultations were obtained from the nu- tritionists, physical therapy, recreational therapy, psychology, occupational therapy, social work, and nursing faculty. The treatment team agreed that the initial goal was to minimize anxiety, pro- vide physiological and environmental stability, and encourage a trusting relationship with the pa- tient .

The nursing care team initiated a contract in or- der to meet patient care goals. The patient signed a written contract weekly in order to modify behav- ior incrementally. For example, the first week Janelle agreed to make her bed with assistance, observe occupational therapy, limit family phone calls to once daily, and complete each meal within 60 minutes. The second week the contract added the behaviors of attending one group therapy ses- sion, of showering limited to 20 minutes, and of completing each meal within 55 minutes. The treatment team made short and frequent visits with the patient, attempted to keep her focused, and used television (30-minute segments) and prunes as rewards. In addition, outbursts were managed by deescalation techniques, “time outs” in her room and small doses of lorazepam, a benzodiaz- epine. Because her outbursts did not diminish, a systematic room program was initiated. The time outs often seemed to confuse and escalate Janelle’s anxiety, whereas a structured predictable room program (30 minutes in her room and 30 minutes out of her room) provided her with a pattern that she could adapt to her daily life.

A daily schedule was posted on her door, which began at 7 a.m. with rising and ended at 10 p.m. with sleep. Activities included meals, self-care ac- tivities, medical rounds, group therapy, television time, family phone time, and occupational ther- apy. Thirty-minute quiet times were interspersed

DIANE HAMILTON

throughout the day. At the end of the 5-week treat- ment regime, the following outcomes were docu- mented, as shown in Table 1.

By the fifth week of hospitalization, physicians had confirmed the diagnosis of AOG. Janelle’s computerized tomography indicated cerebellar de- generation, and measurements of deficient Hex A

Table 1. Treatment Outcomes

Diagnosis Outcome

Potential for violence

Decreased nutritional status

Potential for injury

Mobility, impaired fluid

volume, deficit

Sleep pattern disturbance

Anxiety, fear

Noncompliance

Diminished activities of

daily living

Impaired communication

Diversional activity difficult

Altered family process

Altered growth and

development

Altered role performance

Impaired social interaction

Outbursts diminished to

three per week;

lorazepam given one

dose per week

Intake calories calculated at

1,500; prune intake

averaged six per day

Two falls documented

Able to walk with

assistance, intake and

output adequate,

problem resolved

Hourly sleep checks

document averaged 7

hours nightly, sleep

remains interrupted

Remain present, but

decreased by

reminiscence therapy;

rituals decreased

Complied with contracts

Able to eat, dress, and

make bed independently

Required assistance to

shower

Stuttering remains

Completed three

occupational projects

Four family therapies

conducted

Unresolved

Unresolved

Able to communicate with

staff and patients

ADULT-ONSET TAY-SACHS DISEASE 385

were documented in the serum, leukocyte, and skin fibroblasts. Psychological testing confirmed the patient’s limited cognitive function and plans

were completed to transfer Janelle to a long-term

care facility. A nurse from the facility spent a day

being oriented by treatment nurses about the pa- tient’s plan of care, while one of the primary

nurses agreed to spend one-half day a week for 3

weeks helping the long-term care nurses and Janelle adjust to each other.

CONCLUSIONS

AOG is a slowly progressing disease caused by

the accumulation of the GM, ganglioside in neu-

rons due to defective Hex A. AOG is commonly

called adult onset Tay-Sachs and is a hereditary disease often appearing in people of eastern Euro-

pean ancestry. Common to the disorder are recur-

rent episodes of psychoses that seem to mimic psy-

chiatric illnesses of schizophrenia, depression,

anxiety disorders, and obsessive-compulsive dis-

orders. Because of the diversity of the symptom- atology and because of the degenerative and

chronic quality of the illness, nurses need to design

care that minimizes staff fatigue and disillusion- ment. While antipsychotic drugs are frequently in-

effective, well-executed nursing strategies can pro-

vide the patient with an environment of safety, structure, and comfort.

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