Jul 18, 2019 in Analysis

Tourette’s Syndrome

Abstract

Tourette syndrome is a disorder that has become common recently. Although it is not clear what causes it, various methods of treatment have been devised. The approach to tackling this mental illness depends on the symptoms that the patient exhibits and how they are diagnosed. The purpose of this paper is to analyze the symptoms and diagnosis, and finally determine the most effective methods of treatment of the disorder analyzing scholarly literature.

What is Tourette syndrome?

Tourette syndrome is a disorder usually characterized by involuntary movements that are stereotyped and repetitive leading to vocalization called tics. Normally, the symptoms emerge in children between the age of three and nine. Tourette syndrome affects both males and females, although the former are three or four times more vulnerable than the latter. The worst condition of this disorder is usually during early teenage years, and as time goes by it improves as the person matures into an adult. Therefore, the disorder requires early diagnostics and analysis of the symptoms to decide on the way of treatment.

As far as the symptoms are concerned, the intensity of tics is classified as either simple or complex depending on the nature of the symptoms. Simple tics occur suddenly and briefly and are always characterized by a less intensive movement of muscle groups. Moreover, it involves eye blinking that is normally consistent apart from the grimacing of the face and shrugging of the shoulder. Additionally, it includes a little bit of shoulder and head jerking. Sometimes simple vocalization includes sniffing, throat clearing, and grunting sounds in a person suffering from this disorder. As compared to simple tics, a complex muscle movement involves more muscle groups that have a coordinated pattern being distinct. Just like simple tics, complex ones also exhibit facial grimacing that in most cases is accompanied by shoulder shrugging and head twisting. Other motor tics are jumping, twisting, hopping or sometimes touching objects. Lastly, words or phrases result in complex vocal tics.

The most severe and dramatic type of tics includes a motor movement that can make the patient punch himself/herself in the face thereby harming oneself. Moreover, an individual can end using the obscene language or repeating words or phrases uttered by others. However, this type of behavior usually affects a small number of individuals suffering from Tourette syndrome. The individual can experience the premonitory symptom, as the tic is preceded by an urge in the affected group of muscles.

What are the causes of Tourette syndrome?

Currently, the causes of Tourette syndrome are not clearly known though some researches implicate the disorder to an abnormality in some certain regions of the brain that include cortex and frontal lobes. Additionally, the abnormality is also experienced in circuits that interconnect the regions. Therefore, the cause of the disorder is complex.

Doctors usually diagnose Tourette syndrome after it has been established that the patient experienced both vocal and motor tics for not less than a year. Moreover, the existence of the psychiatric and neurological condition can be helpful to doctors in diagnosing a patient. Experienced professionals can diagnose the disorder without any problem. However, the symptoms that appear during adulthood are atypical and need a more specialized expert. Such technology as magnetic resonance imaging and computerized tomography are used to eliminate conditions that can be confused with the syndrome. A formal diagnosis is usually obtained after the patient has exhibited the symptoms for quite some time. It is because the relatives of the victim usually do not realize the development of the disorder from one phase to another. In most cases, people may relate the symptoms to seasonal allergies that are short-term, and which usually may not be the case.

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Methods of treatment

Apparently, behavioral treatment is one of the most commonly recognized methods. Normally, tics start in childhood and reach the peak during adolescence with reduced symptoms in adulthood. However, sometimes adults continue experiencing tics. Resorting to medications may result into severe consequences. Therefore, behavioral treatment becomes the ultimate solution. Wang, Mai, Marsh, Colibazzi, Gerber, & Peterson carried out a study to assess the comprehensive efficacy of the behavioral intervention for tics in adults having Tourette syndrome with minimum moderate severity. The sample population consisted of 122 people with 78 males aged between 16 to 69 having the syndrome. Additionally, the participants were to be fluent speakers of English apart from having the intelligence quotient of more than 80 in the intelligence test. Lastly, those participants who in the past had disorders like schizophrenia and pervasive development disorder were left out. During the research, the comprehensive therapy was compared with psychoeducation and supportive therapy and was carried out in ten weeks in that randomized controlled trial. The researchers aimed to analyze the tic severity degree. Furthermore, the participants responded positively to the intervention planned for the period of three months and agreed on the observation by an independent expert for three or six months after treatment to assess the durability of its effects. However, participants experiencing an acute phase of the syndrome were administered comprehensive behavioral intervention treatment (CBIT).

Eligible participants were randomized using the computer algorithm of 1:1 to CBIT and supportive therapy (PST), which consisted of eight sessions in a period of ten weeks. Sessions were carried out weekly apart from the last two weeks. Interventions were premeditated like individual treatments. Normally, CBIT is usually an extension of therapy covering a group of strategies like education that comprises psycho-education of tic disorder, relaxation training, and a function analysis among others. Psycho-education and supportive therapy (PST) were significant and provided specific information about genetics, causes and neurobiology of tic disorder. The therapist had a minimum qualification of a master’s degree in clinical psychology and had been trained to the point of being reliable as described in a treatment manual. Supervision was available on-site as required. The two stages of treatment administered clinically and self-reported were completed confirming the eligibility and establishment of baseline symptom harshness.

Wang et al. used such international measurement techniques as the Clinical Global Impression Improvement (CGII) and the Yale Global Tic Severity Scale (YGTSS). Whereas the latter is used to assess tic severity, the former is used to measure the overall response to treatment. The independent evaluators who were to assess the results of treatment using the scales had acquired a master’s degree in mental health. The results showed that a greater decrease in the YGTSS was significantly linked with behavioral therapy. Participants subjected to six months of post treatment showed continuous improvements. It was found out that a comprehensive behavior therapy in adults with Tourette syndrome was safe and effective.

Drug and behavioral treatment are usually used to treat Tourette syndrome. However, they only provide a short-term relief. In order to find a long-term solution, surgery comes in as an option. Nevertheless, the neurosurgical ablative procedure has recently failed to treat patients suffering from Tourette syndrome (TS) leading to the introduction of a deep brain stimulation (DBS). It has been introduced to ensure the modulation of neural activities in places targeted for lesions in earlier days. The rationale behind the modulation is supported by the fact that the associated behavioral disorder and tics are closely related to the thalami-cortical circuitry. The DBS was proven to be beneficial after getting positive results in three different patients. The diminished motor and vocal tics were a result of a nucleus stimulation of syndrome projections in various facial regions of the premotor and cortex. Whereas the stimulation of the intralaminar nuclei can lead to a gradual decrease in the dorsal activity, the stimulation of the midline thalamic nuclei can do the same in the ventral and limbic striatum.

The study by Ackermans et al. reported positive results of the treatment of three patients with Tourette syndrome, stating not only a good effect on reducing tics, but also on related self-injury disorder. The follow-up period for the research was five years, then one year and eight months later. The stimulation caused negative effects, including drowsiness and changed sexual activity. An improvement for Patient 1 undertaking therapy for five years was 90.1% with the figure expected to rise to 92 % for 10 years. However, Patient 2 noted a tic improvement by 82% after 8 months. However, some patients suffering from the syndrome with a severe condition, which can result into death or disability, need more complicated treatment.

Although DBS is a long-term solution, it has its side effect. Complications may be in the form of intracranial hemorrhage in a patient. Additionally, after surgery, patients are always subjected to consequences; therefore, a patient should anticipate these effects before surgery for the overall success and tic reduction.

The genome-wide association study and the candidate gene approach have failed to provide substantial evidence what exactly causes the problem. However, the chromosomal abnormalities observation in TS families implies that there is a high chance of a genomic arrangement a critical part in the study. Surprisingly, earlier studies have provided contradicting information as the evidence does not concur.

Sharf et al. studied the reasons for Tourette syndrome analyzing genomic copy number variations (CNV)  based on 210 unrelated cases in Latin America and the unrelated control of the population. The population from Colombia, central valley of Costa Rica and Antioquia were picked because they were similar in their demographic history and genetics. Consequently, they were expected to show the same predisposing factor. Thirteen years were reported as a mean age, whereas that for the start of the symptoms was 6.4 years. It was established that 48% had been diagnosed with attention deficit hyperactive disorder (ADHD) and 53% were characterized by having obsessive-compulsive disorder (OCD). People that had other intensity of the symptoms were excluded from the total CNVs number. Therefore, 413 persons were held back for a further analysis.

The following criterion was used to make a CNV calling algorithm: neighboring CNVs were merged when the distance between the two was less than a half of the distance from the start. Secondly, centromeric and telomeric CNVs were ignored. An average of about 3.5 CNVs was used in the final data set. The median CNV length was found to be 76.4kb. Thus, 60% reflected deletion, whereas the remaining 40% of genes were subject to duplication. CNVs were contrasted defining Tourette syndrome cases and controls grouped by size. As a result, there was a noticeable increase in the CNVs frequency. No significant effect was noticed when the correlation for genotyping batch was tested. It has ensured the effectiveness of the use of CNVs in diagnosing Taurette syndrome.

Conclusion

Therefore, there are various approaches or ways of handling Tourette syndrome. However, each method has its benefits and shortcomings. It depends on the condition of one patient or another. The approach is based on the symptoms exhibited by the patient. Therefore, the duty of the medical practitioner is to diagnose a patient and administer the right treatment. Finally, family members should also support those showing mild symptoms. It will not only make the patient seek treatment early enough, but will also ensure the success of the whole operation. 

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