’s Disorder Essay, Research Paper Tourette’s Disorder Table of Contents Tourette Syndrome And Other Tic Disorders Definitions of Tic Disorders Differential Diagnosis

’s Disorder Essay, Research Paper

Tourette’s Disorder

Table of Contents

Tourette Syndrome And Other Tic Disorders

Definitions of Tic Disorders

Differential Diagnosis


Associated Behaviors and Cognitive Difficulties


Stimulant Medications

Epidemiology and Genetics

Non-Genetic Contributions

Clinical Assessment Of Tourette Syndrome

Treatment Of Tourette Syndrome



Pharmacological Treatment of Tourette Syndrome

Psychodynamic Psychotherapy

Family Treatment

Genetic Counseling

Academic and Occupational Interventions


Today the full-blown case of TS is unlikely to be confused with any other


However, only a decade ago TS was frequently misdiagnosed as schizophrenia,

obsessive-compulsive disorder, Sydenham’s chorea, epilepsy, or nervous habits.


differentiation of TS from other tic syndromes may be no more than semantic,


since recent genetic evidence links TS with multiple tics. Transient tics of

childhood are

best defined in retrospect. At times it may be difficult to distinguish

children with

extreme attention deficit hyperactivity disorder (ADHD) from TS. Many ADHD

children, on

close examination, have a few phonic or motor tics, grimace, or produce noises

similar to

those of TS. Since at least half of the TS patients also have attention

deficits and

hyperactivity as children, a physician may well be confused. However, the

treating doctor

should be aware of the potential dangers of treating a possible case of TS with


medication. On rare occasions the differentiation between TS and a seizure

disorder may be

problematic. The symptoms of TS sometimes occur in a rather sharply separated


manner and may resemble automatisms. TS patients, however, retain a clear


during such paroxysms. If the diagnosis is in doubt, an EEG may be useful. We

have seen TS

in association with a number of developmental and other neurological disorders.

It is

possible that central nervous system injury from trauma or disease may cause a

child to be

vulnerable to the expression of the disorder, particularly if there is a


predisposition. Autistic and retarded children may display the entire gamut of

TS symptoms,

but whether an autistic or retarded individual requires the additional

diagnosis of TS may

remain an open question until there is a biological or other diagnostic test


for TS. In older patients, conditions such as Wilson’s disease, tardive

dyskinesia, Meige’s

syndrome, chronic amphetamine abuse, and the stereotypic movements of

schizophrenia must be

considered in the differential diagnosis. The distinction can usually be made

by taking a

good history or by blood tests. Since more physicians are now aware of TS,

there is a

growing danger of overdiagnosis or over-treatment. Prevailing diagnostic

criteria would

require that all children with suppressible multiple motor and phonic tics,


minimal, of at least one year, should be diagnosed as having TS. It is up to

the clinician

to consider the effect that the symptoms have on the patient’s ability to

function as well

as the severity of associated symptoms before deciding to treat with medication.



Simple motor tics: fast, darting, and meaningless.

Complex motor tics: slower, may appear purposeful


Simple vocal tics: meaningless sounds and noises.

Complex vocal tics: linguistically meaningful utterances such as

words and

phrases (including coprolalia, echolalia, and palilalia).

Behavioral and Developmental

Attention deficit hyperactivity disorder, obsessions and compulsions,

emotional problems, irritability, impulsivity, aggressivity, and self-


behaviors; various learning disabilities


The varied symptoms of TS can be divided into motor, vocal, and behavioral


(Table 2). Complex motor tics can be virtually any type of movement that the

body can

produce including gyrating, hopping, clapping, tensing arm or neck muscles,

touching people

or things, and obscene gesturing. At some point in the continuum of complex

motor tics, the

term “compulsion” seems appropriate for capturing the organized, ritualistic

character of

the actions. The need to do and then redo or undo the same action a certain

number of times

(e.g., to stretch out an arm ten times

Definitions of Tic Disorders

Tics are involuntary, rapid, repetitive, and stereotyped movements of

individual muscle

groups. They are more easily recognized than precisely defined. Disorders

involving tics

generally are divided into categories according to age of onset, duration of

symptoms, and

the presence of vocal or phonic tics in addition to motor tics. Transient tic


often begin during the early school years and can occur in up to 15% of all


Common tics include eye blinking, nose puckering, grimacing, and squinting.


vocalizations are less common and include various throat sounds, humming, or

other noises.

Childhood tics may be bizarre, such as licking the palm or poking and pinching


genitals. Transient tics last only weeks or a few months and usually are not


with specific behavioral or school problems. They are especially noticeable

with heightened

excitement or fatigue. As with all tic syndromes, boys are three to four times

more often

afflicted than g! irls. While transient tics by definition do not persist for

more than a

year, it is not uncommon for a child to have series of transient tics over the

course of

several years. Chronic tic disorders are differentiated from those that are

transient not

only by their duration over many years, but by their relatively unchanging

character. While

transient tics come and go – with sniffing replaced by forehead furrowing or


snapping, chronic tics – such as contorting one side of the face or blinking -

may persist

unchanged for years. Chronic multiple tics suggest that an individual has

several chronic

motor tics. It is often not an easy task to draw the lines between transient

tics, chronic

tics, and chronic multiple tics. Tourette Syndrome (TS), first described by

Gilles de la

Tourette, can be the most debilitating tic disorder, and is characterized by


frequently changing motor and phonic tics. The prevailing diagnostic criteria

include onset

before the age of 21; recurrent, involuntary, rapid, purposeless motor

movements affecting

multiple muscle groups; one or more vocal tics; variations in the intensity of

the symptoms

over weeks to months (waxing and waning); and a duration of more than one year.

While the

criteria appear basically valid, they are not absolute. First, there have been

rare cases

of TS which have emerged later than age 21. Second, the concept of

“involuntary” may be

hard to define operationally, since some patients experience their tics as

having a

volitional component – a capitulation to an internal urge for motor discharge


by psychological tension aefore writing, to even up, or to stand up and push a

chair into

“just the right position”) is compulsive in duality and accompanied by


internal discomfort. Complex motor tics may greatly impair school work, e.g.,

when a child

must stab at a workbook with a pencil or must go over the same letter so many

times that

the paper is worn thin. Self-destructive behaviors, such as head banging, eye

poking, and

lip biting, also may occur. Vocal tics extend over a similar spectrum of

complexity and

disruption as motor tics ( The most socially distressing complex vocal symptom


coprolalia, the explosive utterance of foul or “dirty” words or more elaborate

sexual and

aggressive statements. While coprolalia occurs in only a minority of TS

patients (from

5-40%, depending on the clinical series), it remains the most well known

symptom of TS. It

should be emphasized that a diagnosis of TS does not require that coprolalia is


Some TS patients may have a tendency to imitate what they have just seen


heard (echolalia), or said (palilalia). For example, the patient may feel an

impulse to

imitate another’s body movements, to speak with an odd inflection, or to accent

a syllable

just the way it has been pronounced by another person. Such modeling or

repetition may lead

to the onset of new specific symptoms that will wax and wane in the same way as

other TS



Simple motor tics

Eye blinking, grimacing, nose twitching, lip pouting, shoulder shrugging, arm


abdominal tensing, kicking, finger movements, jaw snapping, tooth clicking,


tensing parts of the body, and rapid jerking of any part of the body.

Complex motor tics

Hopping, clapping, touching objects (or others or self), throwing, arranging,


bending, “dystonic” postures, biting the mouth, the lip, or the arm,

headbanging, arm

thrusting, striking out, picking scabs, writhing movements, rolling eyes

upwards or

side-to-side, making funny expressions, sticking out the tongue, kissing,


writing over-and-over the same letter or word, pulling back on a pencil

while writing,

and tearing paper or books.


“Giving the finger” and other obscene gestures.


Imitating gestures or movements of other people.


Simple vocal tics

Coughing, spitting, screeching, barking, grunting, gurgling, clacking,

whistling, hissing,

sucking sounds, and syllable sounds such as “uh, uh,” “eee,” and “bu.”

Complex vocal tics

“Oh boy,” “you know,” “shut up,” “you’re fat,” “all right,” and “what’s that.”

or any other understandable word or phrase Rituals

Repeating a phrase until it sounds “just right” and saying something over 3


Speech atypicalities

Unusual rhythms, tone, accents, loudness, and very rapid speech.


Obscene, aggressive, or otherwise socially unacceptable words or phrases.


Repeating one’s own words or parts of words.


Repeating sounds, words, or parts of words of others.

The symptoms of TS can be characterized as mild, moderate, or severe by their


their complexity, and the degree to which they cause impairment or disruption

of the

patient’s ongoingctivities and daily life. For example, extremely frequent tics

that occur

20-30 times a minute, such as blinking, nodding, or arm flexion, may be less


than an infrequent tic that occurs several times an hour, such as loud barking,


utterances, or touching tics. There may be tremendous variability over short

and long

periods of time in symptomatology, frequency, and severity. Patients may be

able to inhibit

or not feel a great need to emit their symptoms while at school or work. When

they arrive

home, however, the tics may erupt with violence and remain at a distressing


throughout the remainder of the day. It is not unusual for patients to “lose”

their tics as

they enter the doctor’s office. Parents may plead with a child to “show the

doctor what you

do at home,” only to be told that the youngster “just doesn’t feel like doing

them” or

“can’t do them” on command. Adults will say “I only wish you could see me

outside of your

office,” and family members will heartily agree. A patient with minimal

symptoms may

display more usual severe tics when the examination is over. Thus, for example,

the doctor

often sees a nearly symptom-free patient leave the office who begins to hop,

flail, or bark

as soon as the street or even the bathroom is reached. In addition to the


or short-term changes in symptom intensity, many patients have oscillations in


over the course of weeks and months. The waxing and waning of severity may be

triggered by

changes in the patient’s life; for example, around the time of holidays,

children may

develop exacerbations that take weeks to subside. Other patients report that

their symptoms

show seasonal fluctuation. However, there are no rigorous data on whether life


stresses, or seasons, in fact, do influence the onset or offset of a period of

exacerbation. Once a patient enters a phase of waxing symptomatology, a process

seems to be

triggered that will run its course – usually within 1-3 months. In its most

severe forms,

patients may have uncountable motor and vocal tics during all their waking

hours with

paroxysms of full-body movements, shouting, or self-mutilation. Despite that,

many patients

with severe tics achieve adequate social adjustment in adult life, although

usually with

considerable emotional pain. The factors that appear to be of importance with

regard to

social adaptation include the seriousness of attentional problems, intelligence,

the degree

of family acceptance and support, and ego strength more than the severity of

motor and

vocal tics. In adolescence and early adulthood, TS patients frequently come to

feel that

their social isolation, vocational and academic failure, and painful and


symptoms are more than they can bear. At times, a small number may consider and


suicide. Conversely, some patients with the most bizarre and disruptive

symptomatology may

achieve excellent social, academic, and vocational adjustments.

Associated Behaviors and Cognitive Difficulties

As well as tics, there are a variety of behavioral and psychological

difficulties that are

experienced by many, though not all, patients with TS. Those behavioral

features have

placed TS on the border between neurology and psychiatry, and require an

understanding of

both disciplines to comprehend the complex problems faced by many TS patients.

The most

frequently reported behavioral problems are attentional deficits, obsessions,


impulsivity, irritability, aggressivity, immaturity, self-injurious behaviors,


depression. Some of the behaviors (e.g., obsessive compulsive behavior) may be

an integral

part of TS, while others may be more common in TS patients because of certain


vulnerabilities (e.g., ADHD). Still others may represent responses to the

social stresses

associated with a multiple tic disorder or a combination of biological and



Obsessions and Compulsions

Although TS may present itself purely as a disorder of multiple motor and vocal

tics, many

TS patients also have obsessive-compulsive (OC) symptoms that may be as

disruptive to their

lives as the tics – sometimes even more so. There is recent evidence that

obsessive-compulsive symptomatology may actually be another expression of the

TS gene and,

therefore, an integral part of the disorder. Whether this is true or not, it

has been well

documented that a high percentage of TS patients have OC symptoms, that those

symptoms tend

to appear somewhat later than the tics, and that they may be seriously

impairing. The

nature of OC symptoms in TS patients is quite variable. Conventionally,

obsessions are

defined as thoughts, images, or impulses that intrude on consciousness, are

involuntary and

distressful, and while perceived as silly or excessive, cannot be abolished.


consist of the actual behaviors carried out in response to the obsessions or in

an effort

to ward them off. Typical OC behaviors include rituals of counting, checking

things over

and over, and washing or cleaning excessively. While many TS patients do have


behaviors, there are other symptoms typical of TS patients that seem to

straddle the border

between tics and OC symptoms. Examples are the need to “even things up,” to

touch things a

certain number of times, to perform tasks over and over until they “feel

right,” as well as

self-injurious behaviors.

Attention Deficit Hyperactivity Disorder (ADHD)

Up to 50% of all children with TS who come to the attention of a physician also


attention deficit hyperactivity disorder (ADHD), which is manifested by

problems with

attention span, concentration, distractibility, impulsivity, and motoric


Attentional problems often precede the onset of TS symptoms and may worsen as

the tics

develop. The increasing difficulty with attention may reflect an underlying


dysfunction involving inhibition and may be exacerbated by the strain of

attending to the

outer world while working hard to remain quiet and still. Attentional problems


hyperactivity can profoundly affect school achievement. At least 30-40% of TS

children have

serious school performance handicaps that require special intervention, and

children with

both TS and ADHD are especially vulnerable to serious, long term educational


Attention deficits may persist into adulthood and together with compulsions and


can seriously impair job performance.

Emotional Lability, Impulsivity, and Aggressivity

Some TS patients (percentages vary greatly in different studies) have

significant problems

with labile emotions, impulsivity, and aggression directed to others. Temper

fits that

include screaming, punching holes in walls, threatening others, hitting, biting,


kicking are common in such patients. Often they will be the patients who also

have ADHD,

which makes impulse control a considerable problem. At times the temper

outbursts can be

seen as reactions to the internal and external pressures of TS. A specific

etiology for

such behavioral problems is, however, not well understood. Nevertheless, they

create much

consternation in teachers and great anguish both to TS patients themselves and

to their

families. The treating physician or counselor is often asked whether those

behaviors are

involuntary, as tics are, or whether they can be controlled. Rather than trying

to make

such a distinction, it is perhaps more helpful to think of such patients as

having a “thin

barrier” between aggressive thoughts and the expression of those thoughts

through actions.

Those patients may experience themselves as being out of control, a concept

that is as

frightening to themselves as it is to others. Management of those behaviors is


difficult and may involve adjustment of medications, individual therapy, family

therapy, or

behavioral retraining. The intensity of those behaviors often increases as the

tics wax and

decreases as the tics wane.


The most intensive research in relation to etiology has focused on neurochemical

alterations in the brain.

Multiple neurochemical systems have been implicated by pharmacologic and


evidence. The most convincing evidence for dopaminergic involvement has come

from the

dramatic response to haloperidol and other neuroleptics such as pimozide,

flupenazine, and

penfluridol, as well as exacerbations produced by stimulant medications.

Findings of

reduced levels of dopamine metabolites in cerebrospinal fluid (CSF) have led


to believe that TS results from a hypersensitivity of postsynaptic dopamine


Serotonergic mechanisms have been suggested on the basis of reduced CSF


metabolites. Since systems relying on neurotransmitters send projections to the


nigra and the striatum, they could play an important role in the

pathophysiology of TS.

Medications affecting that system seem somewhat effective for obsessions but


inconsistent effects on tics. The role of the cholinergic system is clouded by

contradictory reports. Enhancing cholinergic function by use of physostigmine

has been

associated both with the improvement and the worsening of TS. Elevated levels

of red blood

cell choline have been found in TS patients and their relatives, but the

significance is

unclear. Investigation of the GABAergic system suggests that it may be

implicated. The

proximity and connections between the GABA and dopamine systems support the

possibility of

an interrelationship. Response to clonazepam (a GABAergic agent) has been

positive in some

cases. Yet other GABAergic drugs such as diazepam do not have such positive


Noradrenergic mechanisms have been most persuasively implicated by observations


clonidine, a drug that inhibits noradrenergic functioning by the stimulation of


autoreceptor, may improve motor and phonic symptoms. Noradrenergic involvement

has also

been suggested by the exacerbation of the syndrome by stress and anxiety. The

use of

functional neuroimaging techniques such as positron emission tomography may

help clarify

many physiologic relationships and identify important anatomical areas in the

near future.

Stimulant Medications

A particularly important risk factor in tics and TS is the use of stimulant


Over 25% of all TS patients in some cohorts have had a course of stimulation


early in the emergence of their behavioral or tic symptoms because they have

been diagnosed

as having ADHD. Over the last several years, series of cases have been reported

in which

the use of stimulants (methylphenidate, dextroamphetamine, and pemoline) has


correlated with the onset of motor and phonic tics. There is also chemical

evidence to

support the observation that stimulants will increase the severity of tics in

25-50% of TS

patients. In many cases, the tics associated with stimulant medication will

disappear with

the reduction or termination of the medication. It is more controversial

whether stimulants

can actually trigger or produce prolonged chronic multiple tics or TS that will


following their termination. However, cases have been reported in which that

seems to have

occurred. Available information thus indicates that stimulants should be used


with ADHD children who have a close relative with tics, should generally be

avoided with

ADHD children with a first-degree relative with TS, and should be terminated

with the onset

of tics in children who previously were tic-free. Children and parents should

be educated

concerning the risks versus benefits in each case prior to being treated with


Alternatives such as behavioral management, environmental manipulation, and/or

other types

of medication should be considered carefully.

Epidemiology and Genetics

While once thought to be rare, TS is now seen as a relatively common disorder

affecting up

to one person in every 2,500 in its complete form and three times that number

in its

partial expressions that include chronic motor tics and some forms of


disorder. The question of the familial transmission of TS was first raised in

the original

19th century descriptions of the disorder, but a genetic basis for TS was not


seriously until recently. Several genetic studies have now been reported and

other rigorous

studies are now well enough along to draw several important conclusions. Those

studies have

investigated many families in which TS and other tic disorders have been

transmitted over

several generations. Based on available information, it is now clear that TS is

a genetic

disorder. The vulnerability to TS is transmitted from one generation to another.

When we

speak of “vulnerability,” we imply that the child receives the genetic or


basis for developing a tic disorder; the precise type of disorder or severity

may be

different from one generation to another. That vulnerability is transmitted by


mothers or fathers and can be passed on to either sons or daughters. When one

parent is a

carrier or has TS, it appears that there is about a 50-50 chance that a child

will receive

the genetic vulnerability from that parent. That pattern of inheritance is

described as

autosomal dominant. However, not everyone who inherits the genetic

vulnerability will

express any of the symptoms of TS. There is a 70% chance that female gene

carriers will

express any of the symptoms of TS. For a male gene carrier, there is a 99%

chance of

showing some clinical expression of the gene. The degree of expression is

described as

penetrance. In males, the penetrance is higher than in females; thus, males are

more likely

to have some form of expression of the genetic vulnerability. There is a full

30% chance of

female gene carriers showing no symptoms at all. For males, the figure is 1%.

There is a

range of forms in which the vulnerability may be expressed that includes full-

blown TS,

chronic multiple tics, and, as most recently recognized, obsessive-compulsive


Some individuals have TS (or chronic tics) and obsessive-compulsive disorder


others may have the conditions singly. There are also differences between the

sexes in the

form of expression of the TS gene. Males are more likely to have TS or tics;

females are

more likely to have obsessive-compulsive disorder; however, both males and

females may have

any combination or severity. The severity of the disorder is also highly

variable. Most

individuals who inherit the TS genetic vulnerability have very mild conditions

for which

they do not seek medical attention. Researchers are actively engaged in

searching for the

chromosomal location of the TS gene of affected individuals. At present, there

is no

genetic or biochemical test to determine if a person with TS or an unaffected


carries the gene. There is no prenatal test for the vulnerability to TS. When


succeed in locating the gene, such tests may become available.

Non-Genetic Contributions

The individual variations in character, course, and degree of severity by which

TS is

manifested cannot be explained by genetic hypotheses alone. Furthermore, it

appears that

about 10-15% of TS patients do not acquire the disorder genetically. Thus, non-


factors are also responsible, both as causes and as modifiers of TS. Non-

genetic factors

that have been implicated include such stressful processes or events during the


perinatal, or early life periods as fetal compromise and exposure to drugs or

other toxins.

Findings from one study in which decreased birth weights were observed in the


co-twins of discordant monozygotic pairs lend further support to the influence


environmental factors.

Clinical Assessment Of Tourette Syndrome

Assessment of a case of TS involves far more than simple diagnosis. Since

symptoms may

fluctuate in severity and character from hour to hour, a thorough understanding

of the

patient may take a considerable amount of time. As the patient becomes more


with the doctor, there will be less likelihood of symptom suppression or

inhibition. Only

when there is confidence in the physician is the patient likely to acknowledge

the most

frightening or bizarre symptoms. The nature, severity, frequency, and degree of


produced by the motor and vocal tics need to be carefully assessed from the

time of their

emergence until the present. Inquiries should be made about factors that may

have worsened

or ameliorated their severity. A critical question concerns the degree to which

the tics

have interfered with the patient’s social, familial, and school or work

experiences. In

those respects interviews with families may be revealing and informative.

During the

evaluation of a patient with TS, the clinician must assess all areas of

functioning to

fully understand both difficulties and strengths. It is important to explore

the presence

of attentional and learning disabilities, a history of school and/or work

performance, and

relationships with family and peers. Before receiving the diagnosis, the

patient and/or

family may have thought he or she “was going crazy.” The patient may have

become extremely

distressed by his or her own experiences and by the often negative responses


Parents may have scolded, cajoled, ridiculed, threatened, and perhaps beaten

the child to

stop the “weird” and embarrassing behavior, and the emotional sequelae may

affect the

patient far beyond the period of childhood. During the evaluation of a child,


family issues including parental guilt need to be addressed. Relevant factors


through careful diagnostic evaluation can be approached through clarification,


and therapeutic discussion with the youngster and the family. Careful

assessment of

cognitive functioning and school achievement is indicated for children who have


problems. TS children with school performance difficulties often do not have


delineated learning disorders, and the average IQ of TS patients is normal.

Rather, their

problems tend to lie in the areas of attentional deployment, perseverance, and

the ability

to keep themselves and their work organized. Many have difficulties with


(graphomotor skills) and compulsions that interfere with writing. Determining


problem areas will help in the recommendation of alternatives (e.g., extended

periods of

time for tests, the use of a typewriter or the emphasis on oral rathe! r than


reports). The neurological examination should include documentation of


difficulties and other neurological findings. About half of TS patients have

non-localizing, so called “soft,” neurological findings suggesting disturbances

in the body

scheme and integration of motor control. While such findings have no specific


implications, they are worth noting as “baseline” data since the use of

medications such as

haloperidol may cloud the neurological picture. The EEG is often abnormal in TS,

but the

EEG findings are nonspecific. Computed tomography of the brain produces normal

results in

people with TS. Thus, unless there is some doubt about the diagnosis or some


neurological factors, an EEG and a computed tomography are not necessary parts

of the

clinical evaluation. Additional studies that may be considered in the

biological work-up

include serum electrolytes, calcium, phosphorous, copper, ceruloplasmin, and

liver function

tests – all related to movement disorders of various types. In practice,

however, they are

rarely needed for the diagnosis. A behavioral pedigree of the extended family,


tics, compulsions, attentional problems and the like is useful. Previous

medications must

be reviewed in detail during assessment. If a child has received stimulant

medications, it

is important to determine what the indications for the medications were,

whether there were

any pre-existing tics or compulsions, and the temporal relation between the

stimulants and

the new symptoms. Catecholaminergic agonists are contained in other drugs, such

as in

decongestant combinations used in treating allergies and in medications used

for asthma. If

a patient with TS is on a stimulant or a drug containing an ephedrine like


discontinuation should be strongly considered. If the physician examines a