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n. 4/2000
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Abstract |
Mauro Porta |
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Introduction That medicine, whatever the field of investigation and clinical
applications, constitutes a continual, constantly transforming ‘becoming’ is
a sure fact. On the other hand medicine has to square with the (variable) epidemiological
data, with the latest discoveries (and those that necessarily impose the most
“revisions”, sometimes of even entire chapters of disorders, are not always
the most sensational), as well as with environmental impact (increasingly
significant), with economic resources (limited) and, absurdly, even with the
“vogues” conditioned in various ways by the mass media and pharmaceutical
industry. Tics
constitute a reality that well fits into the context set out above. In fact,
in the light of the most recent data, the incidence rate and prevalence are
greater than what has up to now been estimated. According to current
epidemiological findings, Gilles de la Tourette’s Syndrome, i.e. the disorder
of multiple and complex tics, arrives at 5%oo, with a male to female ratio of
4:1, having a very major incidence in school age, as recently pointed up
(1-2). Yet
there is much scientific evidence (3-4-5-6) that now consents to positioning
the disorder not in the psychiatric context, but rather the neurological,
there being some important immunological implications too (7-8). And in
certain ways this aspect constitutes a real upsetting in the ‘traditional’
medical panorama, which thence modernly sees this syndrome classed among the
conditions having an organic basis, although possessing some aspects calling
for psychiatric management (9). Gilles
de la Tourette’s Syndrome also represents a clinical reality with genetic
susceptibilities, i.e. hereditary, and undergoing clarification (10). Finally,
it is here recalled how the condition presents a picture bordering on other
childhood distraction/hypermotricity states, obsessive-compulsive syndromes
and apparently ‘simple’ tics (11-12-13). Among
all these more or less serious disorders, then, there is a continuum that
ought to be also searched for when the physician is gathering the individual
and familial anamnestic precedents. The
term “tic” appears to have an onomatopoetic origin. “Tics”, in fact, re-invoke
the sound of a dry smack or click. It is a matter of a name that began to be
used in past times in veterinary medicine (14). Indeed, already by the
dawning of the 1600s the term “tick” referred to a phenomenon observable in
certain horses, a phenomenon consistent with a sudden arrest in breathing
with the emission of a bizarre sound (Fig. 1). In horses the “spasmo de lo
tico mortale” (from tetanus) was differentiated from “true” tics due to the
observable respiratory arrest when the animal is tied to the trough or
halter, reproducing a typical noise with the teeth on resistant material
(wood or metal). The
phenomenon was so important that De Solleysel, in 1664, published a volume in
which “advice on purchases” was detailed, to be followed at the time of
buying a horse. In fact ticks constituted a serious defect that, once
discovered by the new purchaser, was enough to annul the contract of sale. On
this topic the author had this to suggest: “Before
concluding the deal to buy a horse you need to see that it is not ‘ticky’,
i.e. ticks are not manifested. This
may be seen by the fact that it will have its upper and lower teeth worn, but
better it will be to observe the horse while it eats, since it rests the tips
of the teeth against the trough, and produces as eructations. These are
called ticks and for many reasons I would not like a horse such as this, i.e.
with such a defect. First
of all the ‘ticky’ horse, eating, loses some of its oats. Secondly, by dint
of having ticks, its body fills up with air, which often causes it malaise to
the point of death. In the third place, it becomes thin and one cannot fatten
it, because ordinarily it has narrow innards. And finally, this illness does
not spread by contagion, but horses, especially the younger ones, ‘learn’ it
one from another”. To
be noted is how many animals, whether wild or not, that are held in captivity
present with tics. The swishings of the head by elephants are tics, as are
the nervous walks in circles by lions and tigers, and so on. But domesticated
animals too may be struck by them. In
the XVIII century, the term ‘tic’ made its appearance in literary works. In
the comedy by Dancourt “The gallant gardener” from 1704, it is written: “...
Signor Caton is surely the ugliest mastiff, the most wretched mortal, with his
tic and stuttering”. Voltaire
chided Molière for having a kind of tic, which was a sort of guttural sound
similar to hiccups, known in French as “hoquet”. In “The life of Molière” by
Grimarest, published in 1705, one reads that: “at the beginning, in the
provinces, Molière seemed an awful comedian to many folks... Perhaps because
of a hoquet, or tic in his throat, his mimicry was unwelcome to those who did
not realize it...”. About
Peter the Great, whose look was often grim and serious, Daugeau wrote in his
biography (1718): “It is not at all true that the Czar was poisoned in his
infancy. The
tic that he has does not derive from that. It is a matter of a natural
phenomenon”. And
later, the biographer continues: “... the majestic gaze is full of grace, if
not severe and troubled, it was changed by a tic, which did not often appear,
but which disfigured his eyes and whole countenance, and provoked fright.
This would last a moment, giving him a bewildered and terrible look that
would then disappear”. In
Literature the various tics were often even “interpreted”. De
Vigny, in his book “Service and military greatness” (1839), thus wrote: “The
good battalion commander solemnly prepared to speak, with a boyish smugness,
he adjusted his oil cloth covered beret and gave that sharp twitch of the
shoulder that no-one who has not served in the infantry can mimic, that
jarring movement that a foot soldier applies to his backpack to haul it back
up and render its weight lighter for a moment. It is a soldier’s habit that,
on his becoming an officer, is transformed into a tic”. The
term tic therefore originates from a sound and lends the idea of repetition,
i.e. of the sharp or dry snap or crack. The
same effect is found in the “tick-tock” that describes the beating out of an
alarm clock or the movements of a pendulum. And
this well explains how every language employs onomatopoetic terms to describe
this defect. In
the German dialects the words in use are: zuchen, ziehen, zugen, zuchen,
tucken, ticken and tick. The
British call it tic, tick or tugg. In Italian it is ticchio or ticco. Tico
in Spanish; ticq, tique, or again tic, in French. By
‘tics’ are meant a complaint constituted by twitchings or sounds that are relatively
brief, intermittent, of more or less short duration, semi-voluntary (when
secondary to an internal stimulus or to a compulsive situation), or else
completely involuntary. These
are purposeless movements, arrestable using the will (though only for a
certain period), which present a behavior that is variable over time, and
which in a mutable manner involves variegated muscle groups, including the
respiratory, laryngeal, pharyngeal, oral and nasal. Thus
is explained the output of sounds, more or less articulated, sometimes
reaching the composition of accomplished sentences, generally with an obscene
content (due to concomitant cerebral ‘disinhibition’). Tics
may also be distinguished as according to Jankovic (15): -
clonic: brief (100 m.sec.), jerky (e.g. blinking, brusquely shaking the head,
etc.). -
dystonic: longer than 300 m.sec., which mimic some habitual movements or
postures known to the subject, or else pathological, like bruxism, wryneck or
rotation of the shoulders, etc. -
tonic: > 500 m.sec., consisting in isometric contractions: for example the
straining of a limb, contractions of the abdominal muscles to the point of
vomiting, etc. -
not apparently purposive. These are articulated but incongruous movements -
purposive: this would be de facto compulsive behavior, i.e. movements that
the subject “feels” he/she has to perform in order to accomplish a determined
purpose. The
motorial “homunculus” of the cortex is represented in Fig. 2. In fact all the
movements have a determined representation in the cortex configuring a kind
of topographical map of the human body in the brain that in any case “thinks”
in terms of movement and not of muscles. Figure
3 schematizes the various cerebral areas distinguishing the pyramidal
(voluntary) and extra-pyramidal (involuntary) motor functions as according to
Brodman. A
peripheral sensory stimulus, then, would trigger off the tic: the subject is
“prompted” in a particular point of the organism, and the tic starts off from
this peripheral stimulation, thence called a sensorimotor disorder. This
pathological “feeling” in some body parts entails the unrestrainable fulfillment
of that movement or that certain word or phrase. The will is able to suppress
the tic, at least for a time, but immediately afterwards one sees a true
‘explosion’ of the stereotyped hyperanakinesia, or the vocalizations, which
irrepressibly occur. This
is what is found during the medical consultation: for half an hour the
patient only has a few tics and seems calm. But having once left the office
the pathological movements appear to be unbridled... This
same phenomenon of temporary “disappearance” of the tics can be observed when
the subject is distracted by work or other activities, e.g. sexual, or when
he/she is working a computer or playing an instrument. At other times it is
exactly those moments of concentration that spark off the appearance of tics
(e.g. musician’s tic). The
picture of the complex tic syndrome, with its associated motor and vocal (and
also behavior) disorders, is configured in Gilles de la Tourette Syndrome. This
is characterized by (18): -
the presence (also non contemporaneously) of motor and vocal tics for a
period of more than a year, in a continual and/or intermittent manner. -
the phenomenology of the tics varies over time in terms of frequency,
intensity, and pattern. -
the appearance of disturbances before the age of 18 years. -
secondary tics are to be excluded (e.g. from drugs or intervening illnesses). -
the diagnosis involves an appropriate video-cinematographic documentation
compiled by an expert who would know how to gather the salient traits of the motor
and vocal tic phenomenology. This
classification, without the last point, has also been taken up in the DSM IV,
which constitutes the modern nosographic, neuropsychiatric manual. When
there is no contemporaneousness between the motorial and phonic disturbances,
or when the clinical data do not vary in time regarding the frequency,
intensity and pattern of the tics, then the diagnosis of “probable” Tourette
Syndrome is posed. In fact there cannot be a certainty; sometimes a period of
observation is necessary; or to see the patient repeatedly. On
the other hand the authentic tics are differentiated from “mannerisms” and
from secondary tics. The
latter, not rare, may be classified as: -
post-infective (post encephalitis, Sydenham’s chorea, etc.) -
from the assumption of drugs (psychotropics, L-Dopa, carbamazepine, dintoina,
antipsychotics) -
post intoxication (by carbon monoxide) -
from alterations in CNS development (chromosomal mutations, mental
retardation, etc.) - from
various CNS disorders (following traumatisms, outcomes of stroke, etc.) -
from the assumption of toxic substances, such as cocaine and the like. A
hereditary component has been ascertained (3-19-20-5-21-12-22) in the determining
of Tourette Syndrome, just as it has been proved that the juvenile attention
deficiency-motorial agitation syndromes, the obsessive-compulsive states, the
“start” syndromes and some autolesionistic behavior, have become related to
the tics. Mention has already been made of these clinical pictures. The
hereditary component is interpreted as a predisposition to presenting with a
clinical picture of tics, or their correlated syndromes, in the presence of
provoking “noxae”, among which those from beta-hemolytic streptococcus are
assuming growing importance. For
diagnostic purposes, but also for being able to observe the evolution of the
symptomatology over time, the importance would seem clear for an objective
assessment via ad hoc scales, as put forward by various authors. A
team at Chicago’s Rush University, headed by Christofer Goetz , has been
busily engaged in this matter (23). The
Tourette Syndrome Questionnaire (TSQ) (24) and the Tourette Syndrome List
(TSSL) (25), although having been widely used up to now, have still not been
validated. The Unified Tourette Syndrome Rating Scale was recently
introduced, which is on the way to definitive validation by the
Rush-Presbyterian team - St. Luke’s Medical Center, Chicago. -
Eyes - Shoulders - Torso -
Nose – Arm - Wrists -
Mouth – Hand - Legs -
Neck - Feet -
Inarticulate sound - Coprolalia -
Words - Echolalia 0
- absent 1
- minimum intensity 2
- moderate intensity 3
- fairly marked intensity 4
- well marked intensity 5
- extremely marked intensity -
without sound (a) at the eyes, face, neck, shoulders... - with
sound (b) the whole body with sound... -
vocalizations The
most recent data show how there may be a rather suggestive relationship
between beta-hemolytic streptococcal infection and complex multiple tics that
impose an infectious-immunological screening of patients. In
America there is an epidemiological study called PANDAS which has been
dealing with this topic, as reported in the already cited publication by Swedo
et al. But there have also been indications (26) of infections from Borrelia
and Herpes Simplex, suspected of having in some way triggered Tourette
Syndrome on a predisposed ground (the hereditary element). With
regard, on the other hand, to the various neurophysiological hypotheses
subtending Tourette Syndrome: the efficacy of the neuroleptics favors the
probable involvement of the basal ganglia and extra-pyramidal circuits (27). Other
hypotheses invoke the responsibility of the nucleus accumbens and the limbic
system (28); others again place these alterations at the level of the frontal
cortex, cingulum and opioid system (29). In any case a physiopathological
interpretation of the disturbance is not unequivocally unaccepted nowadays:
this explains the interest in individuating models capable of clarifying so
variegated a syndrome presentation that still has very many question marks.
Perhaps this is why it is so much more fascinating for clinicians and
researchers. Sophisticated
studies deal with analysis of the cerebral functions that employ PET and
SPECT (30); cerebral magnetic resonance imaging has permitted some functional
analyses (31) that bundle the bits of evidence, one after the other, in favor
of the organic pathogenetic theory for Tourette Syndrome. The
connections of the basal ganglia, both with the cortical motor zones and with
the other cerebral structures entrusted with the movement, are schematically
represented in figure No. 4. Few
chapters in neurology call for so conspicuous an outspreading of forces for
problem management as in Gilles de la Tourette’s syndrome and some associated
disturbances (32-33). Although the disorder has an organic point of
departure, the clinical problems that the patient manifests are sometimes in
the psychiatric ambit, especially if appropriate treatment is not applied. However,
it is here specified that for the simple tics the problem is being very
modestly addressed: accepting them is often considered sufficient! Sometimes
it is a matter of a passing phenomenon (especially true in the adolescent age
range) linked to stress, or tofamily difficulties, or problems with school or
the workplace. On
the other hand, in multiple tics syndrome (as Gilles de la Tourette’s
syndrome may be described), the affective and behavioral partnerships, the
often concomitant and frankly psychiatric disturbances, the social
inconveniences, the impaired quality of life, and patient management, impose
vigorous and multidisciplinary interventions. It
goes without saying that the pediatrician should be flanked, in the
school-age band, by the child neuropsychiatrist. It will then be the
neurologist who will deal with the therapy and the diagnostic improvement in
the adult age range, gradually demanding (according to the problems that
emerge) the intervention of the psychiatrist, psychologist or social worker;
or the infectivologist should some “focus” be active, like beta-hemolytic
streptococcus. But alongside these specialists it is also necessary to
involve the geneticist and neuro-radiologist: only by going forward
“together” can real strides be made in the understanding of this disorder. In
any case, the basic treatment for the appropriate management of this type of
disorder is still pharmacological. Besides
the systemic drugs, that see neuroleptics in the front line (34-35), there
are now avant-garde therapies such as botulin toxin used in the local
treatment of the muscular zones gradually involved by the various
pathological twitching movements. Such muscles are “freed” by the toxin and
thus move less. But
at the same time this muscle releasing involves a reduction in
proprioception, and therefore sensitive feeling is diminished, which is often
the primum movens for the ictal pathological motor actions. With
this technique it is even possible to treat the vocal chords that come to be
“weakened” by the botulin toxin, with the objective of cutting down the
coprolalic “discharges” or more generally the vocalizations. Sometimes
antibiotics are employed when there is a high antistreptolysin titer, a sign
ofstreptococcal infection, the case being discussed with the internist. On
the basis of the immunological premises set out earlier, plasmapheresis and
immunoglobulins are employed (36). In some cases of serious
obsessive-compulsive disturbances, one can even resort to stereotactic
neurosurgery (37), which no longer seems fashionable, however. Psychiatric
and psychodynamic treatments are currently in use (32-33), although with
alternate results. It
is often a matter of a support psychotherapy that makes the disturbance more
tolerable. But
the drugs active on the dopaminergic systems are de facto the fulcrum of the
therapeutic approach. Haloperidol
has successfully been flanked with pimozide, which, like the other selective
neuroleptics on the D2 receptors, demonstrate reduced side
effects.Sulpiride, tiapride and risperidone (atypical neuroleptics) have been
employed with good outcomes. There
have also been positive experiences with using olanzapine, and the data
concerning the utilization of tetrabenazine (38), a powerful dopaminergic
depletor, are very interesting indeed, even though this drug is difficult to
find in Italy, it not yet being registered here. Of
totally opposed employment in terms of pathogenetic/pharmacological
assumptions (in respect to the neuroleptics), is the use of dopamine agonists
(39) such as pergolide or similar drugs. But
this does nothing other than confirm the complexity of the systems involved
in the determinism of the disorder. The
alpha-2 adrenergic agonist clonidine has recently and successfully been made
use of, as has guanfacine (40-41). Psychodrug
stimulants like methylphenidate and the amphetamines have turned out to be
useful (42-43-44-45) where attention deficit is associated with motor
hyper-excitability, while the “SSRIs”, i.e. drugs that selectively act on the
re-uptake of serotonin (46), appear to be somewhat useful in the
obsessive-compulsive states. There
has been recent reporting on the employment of nicotine (47), also
administered under the form of skin patches and often combined with
neuroleptics with a reducedposology. In
fact synergies do exist between the nicotinic and dopaminergic receptors. The
problem that is still difficult to handle is that of establishing when the
tics recede spontaneously, at least for a certain period during which no
medication would be necessary.The tics subsequently reappear, and regularly,
perhaps even more overbearingly, in another muscular zone, and the therapy
is then restarted. The awkwardness, dread and
often the discomfort of those affected
involved are the rule.And
such aspects render the clinical research
Tourette Syndrome Association
- the improvement of the medical knowledge about the
disorder by - the spreading awareness of Gilles de la Tourette's
syndrome and - the creation of support groups for patients and their
families; - the organization of a network to distribute news,
to those - the establishing of an efficient Italian “Registry”
that would allow - legal-insurance-work assistance and contacts with
Government institutions; - the awakening and sensitization of educators, social
workers and - the forming of a support fund for patients and their
families. A.I.S.T. is a non-profit making organization with its
secretarial Forming the management board are: Michele Zappella
(President) Responsabile Unità Operativa di Neurologia Policlinico San Marco di Zingonia Bergamo |
Fig. 2: Motorial
homunculus
Fig. 1: (sketch by M.
Cossu). The origin of the name “tic”, deriving from veterinary medicine,
refers to the sound that a horse makes when nervously gnawing at the trough
or the door of its stall
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