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Causes and Symptoms of Tourette Syndrome - Term Paper Example

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The purpose of the paper is to identify and describe the most typical causes and symptoms of TS, explain how it affects a patient psychologically and describe current treatment methods and medication applied to patients with TS. Speech and language difficulties have also been implicated…
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Causes and Symptoms of Tourette Syndrome
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Tourette Syndrome Tourette Syndrome (TS) belongs to obsessive-compulsive disorders characterized by bodily dysfunctions or sensations. TS is a chronic disease and usually present for the duration of a person's life. Tourette Syndrome is defined as: “a neurological disorder characterized by multiple motor and vocal tics lasting for more than one year” (Tourette's Syndrome Association 2007). Patients with TS have a higher incidence of tics and other neurological soft signs. “A tic is “a rapid and involuntary movement or vocalization” (Tourette's Syndrome Association 2007). The purpose of the paper is to identify and describe the most typical causes and symptoms of TS, explain how it affects a patient psychologically and describe current treatment methods and medication applied to patients with TS. Speech and language difficulties have also been implicated. Recent research has focused on linguistic aspects of vocal tics, suggesting that such tics do not occur randomly but are located according to the clausal boundaries or at points of low information within sentences. Other research indicates word finding and speech volume regulation difficulties. Causes of Tourette Syndrome The incidence of TS appears to be unrelated to race or socioeconomic status, although individuals of Jewish or East European heritage may be more commonly affected. People with these origins may have a greater genetic predisposition toward TS, but it seems more likely that referral bias and other cultural factors affect the expression and tolerance of the symptoms. There is no apparent relation of TS to birth weight, birth order, parental age, medical history of individuals or families, or psychiatric history. TS is understood generically to be a complex tic disorder with a lifelong course. A triad of components is necessary to make the diagnosis; the presence of generalized tics and involuntary utterances that may be obscene or suggestive, onset in childhood, and a course that involves a fluctuation of signs throughout the life span but typically is not severely disabling (Heyman and Chowdhury, 2004). The factors that influence the continuity of tic disorders from childhood to adolescence to adulthood are not well understood. Researchers (Waltz, 2001) assume that there is probably an interaction between maturation of the central nervous system and emotional distress along the maturational course. Environmental factors (e.g., toxins and infections) and genetic factors have been cited as possible etiologic factors in this group of disorders. Also, “and physical exhaustion will increase the likelihood of tics occurring” (Hendren 2002, p. 22). Neurobiological models TS stress the role of 5-HT in pathophysiological mechanisms. In some studies, pharmacological challenge with oral m-chlorophenylpiperazine (m-CPP), a partial serotonergic agonist, produced increased severity of TS symptoms in a subgroup of obsessive-compulsive disorders patients studied (Heyman and Chowdhury, 2004). The factors that determine the degree of disability probably include the presence of additional developmental, mental and behavioral disorders. The level of resilience may depend upon support and understanding from parents, peers, and educators and the presence of special abilities or personal attributes. When TS was first identified, the prognosis was thought to be poor, and the majority of cases were assigned to long-term hospitalization. Today, the outlook for TS generally is considered to be good; most individuals experience their worst tic symptoms between nine and 15 years of age (Shimberg, 1995). TS is considered a genetic disease. In spite of the fact that its basic cause is still unknown, researchers found that TS is caused by an abnormal gene that alters functions of neurotransmitters such as dopamine, norepinephrine and serotonin. Current research presents considerable evidence that TS stems from the abnormal metabolism of at least one brain chemical, the neurotransmitter dopamine. Heyman and Chowdhury (2004) suggest that physical structures in the brain may change during behaviors associated with TS. Familial and genetic factors have been cited. Studies suggest a dominant gene; a high proportion of first-degree male relatives show chronic tics. Cases of TS have been found in mothers and sons, uncles and nephews, identical twins, and among sisters. About 30 percent of persons with TS have a family history of the disorder. One study found (Shimberg 1995) increased rates of tic disorders among children having first-degree relatives with TS. Also, alterations were found in the basal ganglia area of the brain, frontal lobes, and cortex. In 2005, it was found that a gene SLITRK1 is responsible for TS. “The SLITRK1 protein plays a role in the development of nerve cells, including the growth of specialized extensions (axons and dendrites) that allow the cell to communicate with nearby nerve cells” (Tourette syndrome 2007). Another family factor that has been implicated is psychopathology. It was found, for example, that about one-third of parents of ticqueurs had had psychiatric consultations and half of these were mothers with affective illness. It is unclear if parental psychopathology is causally related or merely the result of having a child with severe tics, but it seems likely that parental anxiety may be an important factor in maintaining tics. In mild cases of TS, parents are sometimes overpressuring, and in severe cases primary family factors (such as overpunitiveness) arise because of the child's extremely disturbing behavior pattern. Although there has been an increasing number of reported neurological abnormalities, these are usually of a minor nature and difficult to evaluate clearly. Symptoms of Tourette Syndrome As it was mentioned above, tics (motor and vocal movements) are the main symptoms of TS. Thus, the word "tic" is used to describe a variety of involuntary movements extending from simple muscle contractions to complex spoken phrases. Following Prestia (2003): involuntary motor and vocal movements and sounds, called tics. These tics are the defining feature of the disorder and can cause significant academic, social-emotional, and physical challenges, such as difficulty attending to and completing work and social isolation” (p. 67). The major features distinguishing tics from other conditions are the rapid and transient nature of the movements, the lack of evidence of underlying neurological disorder, the disappearance of tics during sleep, and the ease with which they may be voluntarily reproduced or suppressed. While TS involves, primarily, abnormal movements, the intensity of these tics varies greatly from person to person and also in the same person at different times (Waltz, 2001). The movements can be very severe and manifest as violent spasmodic jerking that may even catapult the person from his chair, repeated head shaking and shouting that can provoke blindness following retinal detachment, or violent blows to one's eyes that can induce hemorrhage and loss of sight. They can also be intensified by emotional factors, such as fear, embarrassment, and fatigue; diminished by fever; relieved by alcohol; and modified or completely suppressed by voluntary control (Prestia, 2003). While the incidence of TS is low, transient tic behaviors are common among children, especially between the ages of 7 and 11 years. An estimated 25 percent of children between 6 and 12 exhibit transient tics, and 5 percent has been estimated for tic occurrence between the ages of 7 and 11 concluded that mild tics occur in about 10 percent of children at some stage of development. Thus, while tic behaviors are fairly common among children, tics that meet the defining criteria for TS are not (Heyman and Chowdhury, 2004). Motor and verbal tics can be simple and complex. To simple motor tics belong: “eye blinking; eye darting; pursing lips or pouting; facial grimacing; jerking motions of the head, arm, leg, hands, feet, or stomach; neck or shoulder shrugging; kicks; and movements of the trunk. Simple vocal tics are “throat clearing; coughing; barking; yelping; lip smacking and tongue clicking; short exhalations; sniffing; spitting; and verbalization of initial consonants” (Heyman and Chowdhury 2004, p. 8). Tics change slowly but may be stable for years, then suddenly change in strength or pattern. New tics may emerge to replace or add to older ones. Noises or inarticulate words may develop, and assorted repetitive vocalizations or motor or mental rituals may develop. Altogether, the course is unpredictable. Because of the variability there is no typical case. Individuals with tic disorders may present a broad array of behavioral difficulties, including impulsivity, distractibility, motor hyperactivity, and signs of obsessive-compulsive disorder. Complex tics involve biting, smelling; repeated touching; copropraxia (obscene gestures); twirling; making peculiar "faces"; wincing; throwing; pinching; bending; posturing; bouncing; skipping; kicking; eye and lip rubbing; imitating movements or gestures; and self-injurious actions including hitting or biting oneself” (Heyman and Chowdhury 2004, p. 8). Complex vocal tics may involve “uttering parts of words or phrases out of context and coprolalia (socially unacceptable words); palilalia (echoing others or self)” (Tourette's Syndrome Association 2007). While the generic definition of TS provides general guidelines about the disorder, the psychiatric definition provides specific markers. Tics mimic some aspect or fragment of normal behavior, rarely last more than a second, and can occur singly or together in an orchestrated pattern. Psychological Manifestations Several psychological models have been proposed to explain both the genesis and the maintenance of tics. Tics have been described in terms of learning theory, specifically classical conditioning of defensive reflexes that were originally elicited by aversive events. According to Heyman and Chowdhury (2004), tics are maintained by external events such as parental reactions. Psychological models point to critical environmental events that exacerbate TS, such as fatigue, excitement, or anxiety; or events that diminish tics, such as relaxation, concentration, reading aloud, acting on a stage, sleep, or alcohol consumption. These youngsters must not only come to grips with their identity, but they must assert themselves to get what they want. An important aspect of TS is the diminution of tics during certain activities. For example, tics diminish greatly during sleep but do not disappear completely. Others have reported that symptoms diminish during sexual orgasm. The involuntary nature of this disorder has been baffling. Most tics can be suppressed for brief periods. According to Heyman and Chowdhury (2004) one adult with TS reported that he could control his tics 100 percent of the time. Actually, what may occur is that the individual feels a signal symptom, or warning sensation, and then suppresses the overt tic, thereby showing a learned component to the disorder. Youngsters with TS not only can suppress their tics for brief periods, but they may camouflage them. Often, tics are given a purposive appearance (e.g., brushing hair away from the face with an arm). These can then be distinguished as tics only upon close observation, by their repetitive character (Nolan, 2003). Temperamental factors have been mentioned together with a history of related behavioral symptoms, such as hyperactivity, impulsiveness, and increased muscle tension and reactivity. These symptoms may indicate an underlying temperamental vulnerability to TS. Precipitating factors also have been noted. Varied stressors, such as seeing a pet dog run over, sexual assault, serious home conflicts, serious frights, and acute physical conditions, have been mentioned (Waltz, 2001). Psychologically, some of the behaviors shown by a patient with TS may be alternative expressions of an obsessive-compulsive disorder or of affective and anxiety syndromes. TS has been associated with panic attacks, phobias, stuttering, and rapid talking. Defining the limits of tic disorders in regard to other forms of psychopathology remains one of the most controversial and difficult areas. The psychological difficulties of patients with TS add to specific developmental challenges related to identity, independence, and self-esteem. Verbal outbursts and motor tics may give the person a negative reputation and be incorporated into identity (Waltz, 2001). Patients with TS have difficulty becoming independent if they become anxious in new situations. Phobias place limitations on one's ability to function autonomously. Self-esteem is likely to be poor as much of one's self-evaluation depends upon feedback from others; when others express repugnance at compulsive swearing, snorting sounds, or other odd behaviors, the TS student incorporates these data into his self-assessment, with resultant low self-esteem. Patients with TS typically have cognitive difficulties, notably cognitive inflexibility. Cognitive sticking may mean an inability to switch smoothly from one activity to another, to relinquish a negative thought, or to recognize persons or events if out of context (Waltz, 2001). Odd and sometimes aggressive behaviors do not help in making friends or getting along with teachers. Treatment Methods TS appears to be preferentially responsive to treatment with behavioral therapy. Following Heyman and Chowdhury (2004) one could argue that the treatment period of 8 weeks is too short and the lack of a placebo arm is questionable, but otherwise the study was well-designed and executed. Up to 60% of patients with TS showed significant improvement during treatment with behavioral therapy. Behavioral therapy is also a mainstay of treatment in TS. A substantial number of patients benefit from prolonged exposure to feared situations (which is anxiety provoking) and response prevention. Currently, there are broad-spectrum interventions for TS encompassing biochemical, psychological, psychiatric, and educational types. The majority of people with TS do not require medication; however, there are medications available to help control the symptoms when they interfere with functioning. Severe conditions and symptoms are treated with “haloperidol (Haldol), clonidine (Catapres), pimozide (Orap), fluphenazine (Prolixin, Permitil), and clonazepam (Klonopin)” (Waltz 2001, p. 67). Hendren (2002) explains: “Because the symptoms wax and wane, it is difficult to get a level of medication that will control the symptoms at an acceptable level. Stimulants and products containing stimulants, psychoactive drugs and recreational drugs (e.g., cocaine) may worsen the tics (p. 22). Other interventions for TS focus on families and on education. While the efficacy of education and supportive interventions has not been rigorously assessed, there have been positive results when family expectations and relationships have been reshaped, and when teachers have been prepared to provide a positive, supportive environment in the classroom. Socially, the student with TS frequently experiences rejection. A verbally hostile person, particularly one whose outbursts are unpredictable, is not readily accepted by peers or adults. Several authors have noted general difficulties in social adaptation at school and the problem of maintaining age-appropriate social skills has been recognized among adolescents with TS (Heyman and Chowdhury, 2004). In sum, as syndrome, TS involves various signs, both obvious and subtle, it needs to be understood in its entirety. Any sign considered in isolation may lead clinicians and educators to treatment or education plans that address only part of the problem. As mentioned earlier, TS overlaps with many other distinct psychiatric diagnostic entities. One way of looking at the different categories is by dividing them into the following groups: somatoform disorders, impulse control disorders, eating disorders, delusional disorders, and stereotypic movement disorders. Thus, tics (motor and vocal movements) remain the main manifestations of TS. Behavioral therapy, family and education interventions are the most effective methods of TS treatment. In spite of great improvements in treatment and understanding of causes and symptoms of TS, there are a lot of disputable questions concerning causes and treatment methods. Given the need to decrease symptoms and improve quality of life in patients with TS, researchers need to improve diagnostic tools and therapies for this group of patients and facilitate their implementation. Broader boundaries would hopefully lead to more effective dissemination of knowledge and exchange of ideas within a larger body of investigators. References 1. Hendren, G. (2002). Tourette Syndrome: A New Look at an Old Condition. The Journal of Rehabilitation, 68 (2), 22. 2. Heyman, I., Chowdhury, U. (2004). Tics and Tourette Syndrome: A Handbook for Parents and Professionals Jessica Kingsley Publishers 3. Nolan, S. (2003). Tictionary: A Reference Guide to the World of Tourette Syndrome, Asperger Syndrome, Attention Deficit Hyperactivity Disorder and Obsessive Compulsive Disorder for Parents and Professionals. Intervention in School & Clinic, 39 (2), 127. 4. Prestia, K. (2003). Tourette's Syndrome: Characteristics and Interventions. Intervention in School & Clinic, 39 (2), 67. 5. Tourette syndrome. (2007). Retrieved 22 July 2007, from http://ghr.nlm.nih.gov/condition=tourettesyndrome 6. Shimberg, E. (1995). Living With Tourette Syndrome. Fireside. 7. Tourette's Syndrome Association (2007). Retrieved 22 July 2007, from http://www.tsa-usa.org/Medical/whatists.html 8. Waltz, M. (2001).Tourette's Syndrome. Patient Centered Guides. Read More
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