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Differential Diagnosis
Today the full-blown case of TS is unlikely to be confused with any other disorder.
However, only a decade ago TS was frequently misdiagnosed as schizophrenia,
obsessive-compulsive disorder, Sydenham's chorea, epilepsy, or nervous habits. The
differentiation of TS from other tic syndromes may be no more than semantic, especially
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 stimulant
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 paroxysmal
manner and may resemble automatisms. TS patients, however, retain a clear consciousness
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 genetic
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 specifically
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, however
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.
TABLE 1. RANGE OF SYMPTOMS OF TS
Motor
Simple motor tics: fast, darting, and meaningless.
Complex motor tics: slower, may appear purposeful
Vocal
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-injurious
behaviors; various learning disabilities
Symptomatology
The varied symptoms of TS can be divided into motor, vocal, and behavioral manifestations
(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 bܥe><br><i>Uploader </i>: Robert Dickan
<br><i>Email </i>: spamdude@computer.net
<br><i>Language </i>: English
<br><i>Subject </i>: Biology
<br><i>Title </i>: Tourette's Syndrome
<br><i>Grade </i>: 90
<br><i>System </i>: High School
<br><i>Age </i>: 18
<br><i>Country </i>: U.S.A/
<br><i>Comments </i>: 28 pages long
<br><i>Where I got Evil House of Cheat Address </i>: newsgroup
<br><i>Date </i>: may 11, 1996
Tourette's Disorder
Table of Contents
Tourette Syndrome And Other Tic Disorders
Definitions of Tic Disorders
Differential Diagnosis
Symptomatology
Associated Behaviors and Cognitive Difficulties
Etiology
Stimulant Medications
Epidemiology and Genetics
Non-Genetic Contributions
Clinical Assessment Of Tourette Syndrome
Treatment Of Tourette Syndrome
Monitoring
Reassurance
Pharmacological Treatment of Tourette Syndrome
Psychodynamic Psychotherapy
Family Treatment
Genetic Counseling
Academic and Occupational Interventions
Bibliography
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 disorders
often begin during the early school years and can occur in up to 15% of all children.
Common tics include eye blinking, nose puckering, grimacing, and squinting. Transient
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 the
genitals. Transient tics last only weeks or a few months and usually are not associated
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 finger
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 multiform,
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 accompanied
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 considerable
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 is
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 present.
Some TS patients may have a tendency to imitate what they have just seen (echopraxia),
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
symptoms.
TABLE 2. EXAMPLES OF MOTOR SYMPTOMS
Simple motor tics
Eye blinking, grimacing, nose twitching, lip pouting, shoulder shrugging, arm jerking,
abdominal tensing, kicking, finger movements, jaw snapping, tooth clicking, frowning,
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, gyrating,
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, pinching,
writing over-and-over the same letter or word, pulling back on a pencil while writing,
and tearing paper or books.
Copropraxia
"Giving the finger" and other obscene gestures.
Echopraxia
Imitating gestures or movements of other people.
TABLE 3. EXAMPLES OF VOCAL SYMPTOMS
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 times.
Speech atypicalities
Unusual rhythms, tone, accents, loudness, and very rapid speech.
Coprolalia
Obscene, aggressive, or otherwise socially unacceptable words or phrases.
Palilalia
Repeating one's own words or parts of words.
Echolalia
Repeating sounds, words, or parts of words of others.
The symptoms of TS can be characterized as mild, moderate, or severe by their frequency,
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 disruptive
than an infrequent tic that occurs several times an hour, such as loud barking, coprolalic
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 level
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 moment-to-moment
or short-term changes in symptom intensity, many patients have oscillations in severity
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 events,
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 disfiguring
symptoms are more than they can bear. At times, a small number may consider and attempt
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, compulsions,
impulsivity, irritability, aggressivity, immaturity, self-injurious behaviors, and
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 biological
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 psychological
reactions.
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. Compulsions
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 such
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 have
attention deficit hyperactivity disorder (ADHD), which is manifested by problems with
attention span, concentration, distractibility, impulsivity, and motoric hyperactivity.
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 biological
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 and
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 impairment.
Attention deficits may persist into adulthood and together with compulsions and obsessions
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, and
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 often
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.
Etiology
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 metabolic
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 investigators
to believe that TS results from a hypersensitivity of postsynaptic dopamine receptors.
Serotonergic mechanisms have been suggested on the basis of reduced CSF serotonin
metabolites. Since systems relying on neurotransmitters send projections to the substantia
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 have
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 effects.
Noradrenergic mechanisms have been most persuasively implicated by observations that
clonidine, a drug that inhibits noradrenergic functioning by the stimulation of an
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 medication.
Over 25% of all TS patients in some cohorts have had a course of stimulation medication
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 been
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 persist
following their termination. However, cases have been reported in which that seems to have
occurred. Available information thus indicates that stimulants should be used cautiously
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 stimulants.
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 obsessive-compulsive
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 considered
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 constitutional
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 either
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 disorder.
Some individuals have TS (or chronic tics) and obsessive-compulsive disorder together;
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 individual
carries the gene. There is no prenatal test for the vulnerability to TS. When scientists
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-genetic
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 prenatal,
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 affected
co-twins of discordant monozygotic pairs lend further support to the influence of
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 comfortable
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 disruption
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 evoked.
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, therefore,
family issues including parental guilt need to be addressed. Relevant factors elicited
through careful diagnostic evaluation can be approached through clarification, education,
and therapeutic discussion with the youngster and the family. Careful assessment of
cognitive functioning and school achievement is indicated for children who have school
problems. TS children with school performance difficulties often do not have clearly
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 penmanship
(graphomotor skills) and compulsions that interfere with writing. Determining specific
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 written
reports). The neurological examination should include documentation of neuromaturational
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 therapeutic
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 complicating
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, including
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 agent,
discontinuation should be strongly considered. If the physician examines a previously