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Introduction
Tourette Syndrome (TS) is a condition that affects the neurological system. People with TS experience tics. Tics are sudden, repetitive twitches, motions, or noises. Ticks are bodily behaviors that victims are unable to control. For instance, a person might repeatedly blink; this feeling can be disgusting. This paper explains the history of Tourette syndrome, its epigenetic causes, symptoms and treatment, and critical evaluation based on three current articles.
History of Tourette syndrome
Tourette syndrome was named by French neurologist Jean-Martin in honor of his intern, Georges Gilles de la Tourette, who wrote about nine patients who had convulsive tic disorder and published it in 1885. Although the precise etiology is uncertain, it is thought to result from hereditary and environmental factors. In 1885, Gilles de la Tourette described nine individuals who had a disease marked by uncontrollable sounds, coprolalia, echolalia, echopraxia, and involuntary motions (Gill & Kompoliti, 2020). Gilles de la Tourette listed a number of movement disorders that he believed were related to one another but distinct from real chorea. Following a brief description of the three disorders jumping of Maine, latah of Malaysia, and miryachit of Siberia, he briefly addressed a boy in Charcots Parisian ward who appeared to have the same symptoms. Then, he said that other cases were already being reported from Paris and promised to create another piece describing these people.
Recurrent motor and phonic tics are the hallmarks of the rare genetic neurological illness Tourette syndrome (involuntary muscle spasms and vocalizations). Males are three times more likely to have it than females. Evidence suggests that there may be an anomaly of one or more chemical neurotransmitters in the brain, despite the fact that the cause of Tourette syndrome is unknown (Pringsheim et al., 2019). It bears the name of Georges Gilles de la Tourette, who initially identified the condition in 1885. Based on descriptions of his facial tics and the unusual vocalizations that would interrupt his normal speech in earlier times, the English author Samuel Johnson may have experienced a variant of the disease. Tourette syndrome often develops between the ages of 2 and 15 and lasts throughout adulthood. In roughly 80% of cases, motor tics appear before phonic tics (Gill & Kompoliti, 2020). However, milder versions of the condition may cause phonic or motor tics in some people, but not both.
Epigenetic Causes
Multiple uncontrollable verbal and physical tics are a hallmark of Gilles de la Tourette syndrome, a neurodevelopmental condition. TS has a significant incidence of co-occurring disorders, including obsessive-compulsive disorder (OCD) and attention deficit hyperactivity disorder (ADHD) (OCD). A complicated polygenic background and high heritability characterize TS. The manifestation of symptoms, however, is also influenced by environmental factors. Several epigenetic processes may link these two causalities. Few details are known regarding how epigenetic regulation affects Tourette syndrome, despite the fact that it has been demonstrated to have a role in the emergence of numerous neuropsychiatric disorders.
Perinatal hypoxia, maternal smoking while pregnant, exposure to androgens, heat, and exhaustion are a few examples of environmental risk factors. Numerous underlying genetic risk factors may interact with these environmental factors. Its unclear how Tourette syndrome is inherited. Numerous hereditary and environmental factors are probably in play, even though the symptoms of this disorder frequently cluster in families (Eapen & Usherwood, 2021). It is challenging to predict who else in a family members immediate circle may be in danger of contracting the illness.
It was previously believed that the autosomal dominant mode of inheritance for Tourette syndrome would mean that only one mutant copy of a gene in each cell would be necessary to cause the disorder. Research over many years has demonstrated that this is untrue. Numerous genetic and environmental factors, rather than alterations in a single gene, are likely responsible for most cases of Tourette syndrome.
Symptoms
The primary symptom of Tourettes syndrome is tics; they typically occur between the ages of 2 and 14; around 6 years is the average (Gill & Kompoliti, 2020). People who have Tourettes syndrome exhibit both vocal and physical tics. Some physical tics include rolling the eyes and shoulders, jerking the head or limbs, twirling, and touching things and other people. Grunting, throat clearing, whistling, coughing, tongue clicking, animal noises, uttering random words and phrases, repeating a sound, word, or phrase, and swearing are some examples of vocal tics.
Tics rarely endanger a persons general health, but some physical tics, like head jerks, can hurt. Sometimes tics are more severe than on other days. Stress, anxiety, and exhaustion can all make them worse. Attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), sadness, and anxiety can all affect the mood and behavior of those with Tourettes syndrome. Due to the possibility that their tics will single out certain children with Tourettes syndrome, they may also be at risk for bullying. Most patients with Tourettes syndrome feel a strong urge just before a tic, similar to the sensation you have before you need to scratch or sneeze. Premonitory sensations are the name for these sensations. Only after the tic has been accomplished are premonitory sensations alleviated. Premonitory symptoms include, for instance, a burning sensation in the eyes before blinking, a dry or scratchy throat before grunting, or an itching joint or muscle before jerking.
Treatment
Tourette syndrome has no known treatment; the goal of treatment is to manage tics that impair functioning and day-to-day activities. Treatment may not be required if tics are not severe. Medications that block or lower dopamine are among the drugs that can help regulate tics or lessen symptoms of related diseases. Tics can be controlled with fluphenazine, haloperidol (Haldol), risperidone (Risperdal), and pimozide (Orap). Gaining weight and uncontrollable repetitive movements are two potential side effects. Even though tetrabenazine (Xenazine) has the potential to cause severe depression, it might be recommended. A simple or verbal tic could be alleviated by injecting botulinum (Botox) into the affected muscle.
Attention and concentration can be improved with stimulants like methylphenidate (Metadate CD, Ritalin LA, and others) and drugs containing dextroamphetamine (Adderall XR, Dexedrine, and other medications for ADHD). However, for some people with Tourette syndrome, ADHD drugs might make tics worse. Medications that manage behavioral symptoms like poor impulse control and rage attacks are generally recommended for high blood pressure, such as clonidine (Catapres, Kapvay) and guanfacine (Intuniv). Sleepiness is one of the side effects.
Antidepressants such as Fluoxetine (Prozac, and Sarafem, among other medications) may aid in reducing OCD, anxiety, and depressive symptoms. Anti-epileptic drugs like topiramate (Topamax), used to treat epilepsy, may help some persons with Tourette syndrome. Comprehensive Behavioral Intervention for Tics is one of the most popular treatment modalities for Tourette Syndrome (CBIT). CBT involves relaxation training, habit reversal therapy, and learning to recognize the emotions and circumstances that exacerbate tic severity.
Evaluation
Billnitzer and Jankovic (2020) explain several behavioral comorbidities, such as attention deficit and obsessive-compulsive disorder, frequently coexist with the motor and phonic tics that first appear in childhood with Tourette syndrome. Tourette syndrome is a complex neurobehavioral illness. The requirements and objectives of each patient and their family should guide the development of the treatment plan. All patients should get information about their condition and, if possible, participate in behavioral therapy aimed at attics and comorbidities. Alpha agonists, topiramate, and vesicular monoamine transport type 2 inhibitors are examples of pharmacological treatments that are typically used as first-line treatments for patients with bothersome tics that are not controlled by behavioral therapy or when behavioral therapy is unavailable or inaccessible.
Second article
According to Kleimaker et al. (2020), multiple physical and verbal tics are the hallmarks of Gilles de la Tourette syndrome, a complex neurodevelopmental condition. The motor system has historically been the main topic of study for Tourette syndrome. The importance of perceptual and cognitive processes is also becoming clearer. Due to the enhanced strength of the perception-action coupling, it has been hypothesized that systems relating perception to action may be particularly impacted in these patients. However, no experiments have yet been done to investigate this.
Using a visual-motor event file task with four levels of feature overlap and repetitive or alternating responses, according to the article, 24 adult patients with Tourette syndrome and n = 24 healthy control individuals were studied (Kleimaker et al., 2020). Alongside behavioral testing, EEG was captured and analyzed utilizing source localization and temporal signal decomposition techniques. Perception-action binding was more pronounced in Tourette individuals on a behavioral level. When unbinding processes of previously formed perception-action bindings were necessary, tic frequency was correlated with performance, with higher tic frequency being associated with stronger perception-action binding. This shows that perception-action coupling and the occurrence of tics are closely connected.
Jankovic (2020) elucidates that most individuals with Tourette syndrome (TS) have a variety of behavioral comorbidities, including attention deficit disorder and obsessive-compulsive disorder. Motor and phonic tics associated with TS can range from barely discernible to severe. As a result, therapy must be customized to each patients specific needs. Oral drugs such as alpha agonists, dopamine depletion, antipsychotics, and topiramate treat involuntary movements and noises in addition to behavioral therapy (Jankovic, 2020). Patients with problematic coprolalia and other focal motor and phonic tics respond well to botulinum toxin injections. Deep brain stimulation may be an option for people with malignant TS, which is unresponsive to medication therapy. Most TS patients can normally live when the right treatment is chosen and applied.
Conclusion
The paper elaborates on the etiology of Tourette syndrome, a genetically linked infection whose etiology is still under investigation. It also elaborates on the symptoms of Tourette syndrome, including the tics accompanying the signs and those with attention deficit hyperactive disorder at a higher risk of fatal tics affecting the vocal areas. The paper has also highlighted the treatment modalities employed in the management of tics resulting from contracting the disease. Since the condition has no known cure, management mainly focuses on the presenting symptoms as the patients manifest. The drugs identified to be important in managing the condition include stimulants like methylphenidate (Metadate CD, Ritalin LA, and others) and drugs containing dextroamphetamine (Adderall XR, Dexedrine, and other medications for ADHD). The paper has also highlighted a series of case studies on managing the condition. The summary of the disease is well elaborated in the article. The treatment modalities mainly focus on reducing the signs of the conditions present.
References
Billnitzer, A., & Jankovic, J. (2020). Current management of tics and Tourette syndrome: Behavioral, pharmacologic, and surgical treatments. Neurotherapeutics, 17(4), 16811693.
Eapen, V., & Usherwood, T. (2021). Tourette syndrome in children. Australian Journal of General Practice, 50(3), 120125.
Gill, C. E., & Kompoliti, K. (2020). Clinical features of Tourette syndrome. Journal of Child Neurology, 35(2), 166-174.
Jankovic, J. (2020). Treatment of tics associated with Tourette syndrome. Journal of Neural Transmission, 127(5), 843850.
Kleimaker, M., Takacs, A., Conte, G., Onken, R., Verrel, J., Bäumer, T., Münchau, A., & Beste, C. (2020). Increased perception-action binding in Tourette syndrome. Brain, 143(6), 19341945.
Pringsheim, T., Okun, M. S., Müller-Vahl, K., Martino, D., Jankovic, J., Cavanna, A. E., Woods, D. W., Robinson, M., Jarvie, E., & Roessner, V. (2019). Practice guideline recommendations summary: Treatment of tics in people with Tourette syndrome and chronic tic disorders. Neurology, 92(19), 896906.
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