Research paper assignment!

Running Head: TOURETTE SYNDROME 1

Tourette Syndrome

Enma Tamayo

Florida National University

Human Growth and Development

Prof. Rafael Ramos, M.S.

September 30, 2018

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Abstract

The Tourette Syndrome is publicly known in 1885, described by a French doctor, to whom it

owes its name. It is a neurological disorder of which the causes are unknown in their entirety, but

its genetic character has been proven. Symptoms are different in each person and are

characterized by movements called tics; more frequent in boys than in girls. Tics tend to

disappear in adulthood in most cases. People with this syndrome have normal expectations of

life. The investigations continue with the purpose of being able to provide an effective treatment

that improves the quality of life of those people who suffer this syndrome.

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History about this disease:

The Syndrome of Gilles de la Tourette is a neurological disorder that induces the

individual to perform involuntary movements or sounds out of the ordinary called tics. Appears

in childhood with severe or moderate tics, which persist for more than a year and can be for life.

In many cases they tend to improve or even disappear during the last stage of adolescence or in

adulthood. It is a hereditary disorder of autosomal dominant form, behaving as a pattern of

complex inheritance. The gene carriers do not necessarily need to develop the symptoms of this

syndrome. Also, the gender has a determining influence.

This syndrome owes its name to Dr. George Gilles de la Tourette who lived from 1859 to

1904. In 1885 he described for the first time the disorders of this disease with the study of 9

cases that presented involuntary reflexes; and diagnosed the disease in an 86-year-old French

noblewoman. Currently there are many investigations that are being conducted proving that the

symptoms appear in childhood, beginning between 5 and 10 years of age regardless of ethnic

groups.

Research has also shown that the chances of males being more affected than females is 4

times higher. Sometimes, girls can only develop compulsive obsessive symptoms.

In the United States, approximately 200,000 people suffer from the most severe form of this

disease, and an average of 3.8% of children from 5 to 18 years of age can suffer from it.

Symptoms and Sings

The symptoms can vary from mild to very severe, but in most cases, they develop

moderately. This syndrome can be persistent chronic throughout life, but usually in the first years

of adolescence the most severe stage is suffered. Later it may or may not improve and even

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disappear in adulthood. The first symptoms appear in the head and neck; they can progress

involving more muscles of the body either of the trunk or the extremities. The symptoms of the

disease may be associated with the existence of other neurological or psychiatric conditions.

Generally, this disease is evidenced by repetitive movements or unwanted sounds, which

cannot be controlled like constant blinking, the use of coarse words and movements of different

parts of the body. Coupled with this are compulsive behaviors, impulsivity, lack of self-control,

hyperactivity, repetition of incoherent words or phrases, meaningless words, chronic coughing,

involuntary eyelid spasms, stuttering, muscle contractions, increased muscle activity, difficulty

moving any limb of the body or the body in general and involuntary movements. All this coupled

with a growing state of anxiety, depression and fear.

Causes

Despite the studies that are carried out, the causes of this condition are unknown. Researchers

link their causes to abnormalities in some regions of the brain such as basal ganglia, frontal lobes

and cerebral cortex. It is also related to problems in the circuits that make the connection

between these regions and neurotransmitters such as serotonin, dopamine and norepinephrine

that facilitate communication between neurons.

Diagnosis

The diagnosis of this disease is made clinically, as a result of persistent motor or vocal

tics in the patient for one year or longer. Many cases find improvements in late adolescence or at

the beginning of adulthood. Only in 10% of those affected does the disease persist until they

reach the age of majority. The diagnosis can be established in a better way when the symptoms

are related to other conditions. Blood tests or laboratories are not needed to detect this syndrome,

but studies such as Nuclear Magnetic Resonance, Computed Tomography and

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Electroencephalogram are used for its diagnosis. Many patients are slow to be diagnosed because

when presenting simple or moderate tics, they and their relatives consider it secondary and

associate it with another disease. Example of this, they associate repetitive blinking with vision

problems or sounds of throat and cough with allergies. On the other hand, once patients and

relatives already have previous knowledge about the disease can perform a self-diagnosis.

According to the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) tics are

divided into three categories:

- Motor and vocal tics present in the patient for more than one year (Tourette Syndrome)

- Motor and vocal tics showing one of them or both at the same time (Persistent Disorder)

-Motor or vocal tics that are presented separately or joined in less than one year (Provisional tics

disorders)

The inclusion in one of these 3 groups is done considering that the behavior of the patient

has not been modified by any drug or associated with another disease. These motor and vocal tics

are classified as we have already seen in simple ones like blinking, grimacing, cephalic jerking

without social sense and in complexes like grunts or barks and sniffing. There is also the

classification of sensory and cognitive tics. Sensory tics are those involuntary recurrent sensations

such as tingling, cold, heat, heaviness, lightness and strangeness. Cognitive tics are defined as

repetitive thoughts with aggressive content.

Medical terminologies have been created to describe some symptoms of this syndrome, such as

Coprolalia which is used to describe one of the most confused and attacked symptoms. Patients

with this symptom express obscene words, derogatory comments, and refer to the genital areas,

excrement and sexual act. We can also find Echolalia which refer to patients who repeat what is

expressed by other people, they cannot communicate correctly because they are not able to

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express their own thoughts. In addition to Palilalia who are patients that repeat syllables or

words, then we can have Echopraxia which refer to patients that repeat the movements that other

people make, and finally, we have Copropraxia which refer to patients who perform obscene or

forbidden involuntary gestures and obsessive behavior.

Environmental Causes

Although the causes are unknown in their totality, studies have shown that in addition to a

strong and complex genetic disorder, there are environmental risks that can contribute to the

suffering of this disease. Among these environmental risks are complications during pregnancy,

smoking during the same, the consumption of toxic substances, low birth weight, fetal distress

caused by incorrect medical practices or negligence of the pregnant woman, infections caused by

bacteria and other germs and emotional variability.

Treatment Plans

When tics do not produce disability, the patient usually does not require medical

treatment. Patients who are affected by their daily activities in a severe way due to the disease

are treated with drugs from the group of neuroleptics. Haloperidol and Pimozide have been very

effective in delaying the onset and duration of tics. All these treatments bring with them side

effects, which are treated from the beginning of the treatment and personalized with each patient,

assessing tolerance in the doses. Among the most common side effects are drowsiness, weight

gain, cognitive dullness, shuddering and dystonic reactions. When these drugs are used for long

periods, to suppress them they must be of gradual form, to avoid the effect of rebound in the tics

or the dyskinesia that is a movement disorder not associated with the Tourette Syndrome. For

this reason, neuroleptics are used in low doses for short periods. Other symptoms presented by

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patients such as attention deficit hyperactivity disorder or obsessive-compulsive symptoms are

treated with inhibitors, which have been shown to be effective.

A medication that by itself is effective in the treatment of tics has not yet been found, but

it does help patients in their daily lives. There are other types of treatments without the use of

drugs when possible or using both. Behavioral Therapies are an example of them through this,

patients learn different ways to control the tics; helping to reduce the number of appearances, the

seriousness of them and the personal and social impact. Another example is the technique of

Inversion of habit or counterconditioning, this practice requires a lot of study from both

specialists in charge and patients; has two main stages: Training in awareness, where each tick is

identified aloud; and incompatible or substitute response training: where you learn a new

behavior that cannot happen at the same time as the tics. Example: If the person has a tic that

causes him to touch his head, a new behavior would be to put his hands on his knee, so as not to

touch his head.

Another of the alternative treatments are therapies of Comprehensive Behavioral

Interventions for Tics (CBIT) this therapy is based on the inversion of habits, education on tics

and relaxation techniques. This technique is developed in practice involving therapists, family

members, among others. Although this therapy has been very helpful, unfortunately the staff able

to perform it is not very numerous. Training therapies for the family are very useful for both

family members and patients, as it helps them to better understand the problems and the use in

each case of positive reinforcement and discipline to follow.

Tourette Syndrome does not affect the life expectancy of the patient and does not

diminish the intelligence capacity. Not all patients need medical treatment, but it is very frequent

that many patients begin to suffer from neuro-behavior disorders such as depression, panic

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attacks, obsessive disorder and antisocial behavior that leads to isolation. All these associated

conditions can severely affect the patient even when the initial symptoms of the syndrome have

improved or disappeared. The ages vary greatly both in the appearance of the first symptoms and

in the complexity of their development. The disease in most cases is improving in the late stage

of adolescence especially after 20 years, behaving free of symptoms. Many patients can stop

taking medications to reduce tics, and even if this happens, it is not a neglected disease. It is

encouraging that only in 10% of patients do symptoms remain severe until they reach the age of

majority.

Considering the age of the onset of this disease, behavior and development; We can

understand that it gives children many emotional problems, a great physical loss and little social

integration. Coupled with this, we know that the environmental conditions that surround patients

cause an increase in tics because when they are more concerned about controlling them, less they

get them. That is why it is so important that people go to the doctor to have an adequate

diagnosis and therefore receive the right help, where they can learn techniques to stay calm and

learn to live with their situation.

Suggestion on how to overcome the disorder

For all parents, raising children becomes a great responsibility and more when your child

suffers from a condition like Tourette's Syndrome. It can generate a stressful environment, so

something fundamental is the knowledge about the disease, learn about the behaviors to continue

to help your child to the social insertion and the most important thing to make the child feel in a

safe environment.

Offer understanding and help whenever the child needs it. Never ask him to control his

tics since they are uncontrollable. Parents must collaborate in schools to achieve special and

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personalized attention to their child. In many cases both children and youth are victims of

bullying by their peers, for this reason should talk with them and teach them to be prepared to

lead with the harmful comments. It is very useful to disseminate the characteristics of this

disease at a social level, especially in the schools and work centers where those affected are

located. We must create favorable conditions for each person with this syndrome, so that they

can develop their activities in a pleasant way. Help and support your child in establishing

personal relationships, participating in activities and not isolating himself. This will help him

meet new people, make new friends and develop social skills. Parents should not limit the daily

activities of their children, the children should try to learn and perform all their activities if they

are sure that they have the capacity to develop them, otherwise the children could experience

frustration. When children and their families manage to understand and live with the disease, life

is not so difficult.

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Conclusions

The Gilles de la Tourette Syndrome, despite having been discovered since the 19th

century, continues being an enigma. It is a chronic behavioral neurological disorder; whose

symptoms appear in childhood or adolescence. Significant aspect because children and young

people begin to live from an early age with this condition, whose assimilation can be difficult

and contradictory. This syndrome is not only motor and vocal tics; it goes much further. The

rejection produced by social ignorance generates stress to the patients who suffer it. That is why

knowledge about the disease at the social level becomes one of the most important aspects to

achieve the assessment and attention of the educational and social needs of these patients. We

must achieve a tolerant and understanding environment that encourages them to develop their

capacities and that be flexible to be adapted to the demands of these people.

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References

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Psychiatry Journal Retrieved from

https://search.proquest.com/docview/1692762483?accountid=158399.

Deng, H., Gao, K., & Jankovic, J. (2012). The genetics of Tourette Syndrome. Nature

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Tourette Syndrome https://my.clevelandclinic.org<article

Kronenbuerger, M., Belenghi, P., Ilgner, J., Freiherr, J., Hummel, T., & Neuner, I. (2018).

Olfactory functioning in adults with Tourette Syndrome. PLoS One, 13(6)

doi:http://dx.doi.org/10.1371/journal.pone.0197598

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