TOURETTE SYNDROME AND OTHER RELATED TIC DISORDERS: ISSUES IN SPEECH LANGUAGE PATHOLOGY (SLP) DIFFERENTIAL DIAGNOSIS, PATHOPHYSIOLOGY,

AND NEUROBIOLOGY

REGINA ENWEFA SOUTHERN UNIVERSITY BATON ROUGE, LOUISIANA STEPHEN C. ENWEFA JACKSON STATE UNIVERSITY JACKSON, MISSISSIPPI

Tourette Syndrome and Other Related Tic Disorders: Issues in Speech Language Pathology (SLP) Differential Diagnosis, Pathophysiology, and Neurobiology
Abstract The Gilles de la Tourette Syndrome (TS) is a neuropsychological inherited disorder of childhood onset. TS is described as disorders of chronic motor and vocal tics that usually wax and wane. For over a century, TS has been known as a disorder characterized by involuntary repetitive, stereotypic movement of muscle groups, uncontrollable vocal sounds, and in limited cases repetition of inappropriate obscene words. The movements of tics usually appear in childhood before eighteen years of age. Motor tics usually take many forms, and typically involve the face and head; for example eye blinking, facial grimacing, head shaking or twitching, mouth opening, and shoulder shrugging. Vocal tics are virtually any repetitive stereotype sound or utterance that ranges from sniffing, throat clearing, to humming and coughing. The more obvious vocal tics that occur are barking and hooting, with coprolalia affecting a minority of the patients. Echopraxia, palllilalia (repeating ones own words), and echolalia are often present. Additionally, TS patients often present with a variety of concomitant behavioral (attention deficit-hyperactivity disorder (ADHD), obsessive compulsive behaviors), and educational problems. This study examined the natural history, etiology, epidemiology, incidence/prevalence, comorbidity, DSM-IV diagnostic criteria, pathophysiology, symptomatology, differential diagnosis, and learning difficulties associated with TS. In addition, the study provided a framework for understanding current neurobiological and school speech language pathology issues relative to TS. The Gilles de la Tourette Syndrome (TS) is a neuropsychological inherited disorder of childhood onset. TS is described as disorders of chronic motor and vocal tics that usually wax and wane. For over a century, TS has been known as a disorder characterized by involuntary repetitive, stereotypic movement of muscle groups, uncontrollable vocal sounds, and in limited cases repetition of inappropriate obscene words. The movements of tics usually appear in childhood before eighteen years of age. Motor tics usually take many forms, and typically involve the face and head; for example eye blinking, facial grimacing, head shaking or twitching, mouth opening, and shoulder shrugging. Vocal tics are virtually any repetitive stereotype sound or utterance that ranges

840

from sniffing, throat clearing, to humming and coughing. The more obvious vocal tics that occur are barking and hooting, with coprolalia affecting a minority of the patients. Echopraxia, palllilalia (repeating ones own words), and echolalia are often present. Additionally, TS patients often present with a variety of concomitant behavioral (attention deficit-hyperactivity disorder (ADHD), obsessive compulsive behaviors), and educational problems. This study examined the natural history, etiology, epidemiology, incidence/prevalence, co-morbidity, DSM-IV diagnostic criteria, pathophysiology, symptomatology, differential diagnosis, and learning difficulties associated with TS. In addition, the study provided a framework for understanding current neurobiological and school speech language pathology issues relative to TS. The first medical description of a TS disorder was given in 1825 when Itard reported on one of his patients who developed persistent body tics, barking sounds, and uncontrollable utterances of obscenities. Over several decades there has been increasing interest in TS as well as systematic studies devoted to understanding the natural history, phenomenology, etiology, genetics, epidemiology, pathophysiology, and

symptomatology of the syndrome. Studies have shown in many ways that tic disorder with their associated co-morbid problems provide a framework for studying vivid clinical phenomena, genetic factors, neuroanatomical localization and neurophysiological functions, and the basic underlying neurochemistry. Tourette syndrome is a disorder more common in males than females, a ratio of 4:1. The mean age of onset for this hereditary childhood disorder is between six and seven years with most patients developing tics before middle of their teenage years. As noted earlier, initially eye

841

blinking, facial grimaces, and head jerking are the most typical tics that are followed with phonic tics at a slightly older age. The clinical identification of those patients with spontaneous amelioration of symptoms has not been possible because of no reliable prognostic characteristics. Goetz, Tanner, Stebblins, Leipzig, & Carr (1992) suggested that presence of only mild tics through adolescence age was a good predictor of mild tics in adulthood; with clinical knowledge that severe cases of childhood tics had a potential for a good outcome. Although TS was originally proposed as a lifelong disorder, however many individuals continue to show spontaneous remission or marked improvement without medical or therapeutic interventions. The reduction in the occurrence of moderate to severe tics has been observed in some patients overtime. There is mounting evidence in literature to suggest that TS and related tic disorders are much more common than previously thought. The frequency of positive family history indicates a genetic component but no marker has been identified and very rare cases have been described subsequent to head trauma. The available data on etiology are studies focused on genetic factors and neurochemical alterations in the brain. Many neurochemical systems have been implicated by pharmacologic and metabolic evidence. The most convincing evidence for dopaminergic involvement has come from the dramatic response to haloperidol and other neuroleptics such as pimozide, fluphenazine and peufluridol, as well as noticeable exacerbations resulting from stimulant medications. Also, serotonergic mechanisms have been suggested on the basis of the beneficial effects of serotonin reuptake inhibitors (SRIs) in the treatment of obsessive compulsive disorders. In view of the fact that systems relying on neurotransmitters send projections to both substantia nigra and striatum, it is

842

suggested they could play an important role in the pathophysiology of TS. Clinical investigation of GABAergic system indicates that it may be implicated with the understanding that the proximity and connections between the GABA and dopamine systems support the possibility of an interrelationship. Noradrenergic mechanism have been plausibly implicated by clinical observations that clonidine may improve motor and phonic tics by its inhibitory action in sitmulating an autorecpetor. The role of the cholinergic system is clouded by contradictory reports (Bruun, Cohen, & Leckman, 1995). TS has been reported to occur world-wide. In the continental United States, TS is more common in Caucasians than in Blacks or Hispanics. For instance, in Rochester, Minnesota, the estimated annual incidence was 0.05: 10, 000. The suggested prevalence of chronic tic disorders globally varies about ten-fold from 1:1000 to 1: 10,000. Prevalence based on individual or physician identification is 2.9: 10, 000 children in Monroe County, New York and 5.2: 10,000 children in North Dakota (Singer, 1994). The prevalence rates based on referral for medical services are 23: 10,000 school children in Paris and 49:10,000 school children in Los Angeles and that based on a nationwide health examination in Israel was 4.3:10,000 of the total population aged 16-17 years (Singer, 1994). The co-morbidity of TS for the child affected with a tic disorder is monumental because problems often extend beyond the presence of motor and/or vocal tics. Historically, Gilles de la Tourette in his original description of the disorder noted the presence of co-morbid psychopathologies including obsessive compulsive disorders (OCD) symptoms, anxieties and phobia. Currently, addition to the above list are increasing variety of concomitant behavioral problems including Attention Deficit

843

Hyperactivity Disorders (ADHD), disruptive behaviors, sleep problems, learning difficulties, aggressiveness, immaturity, withdrawal, anxious, phobic, manic, and school problems. Clinical operational definition of co-morbidity is the cornerstone for developing evidence based comprehensive treatment programs, understanding genetic association, and clarifying neuroanatomical substrates. The exact neuroanatomic structural dysfunction in TS remains unknown. The potential sites of pathology implicated in TS are basal ganglia, frontal cortex, and limbic system, although little scientific evidence exists to support these claims. The strong circumstantial evidence implicating a dysfunction of basal ganglia origin includes its established role in several other movement disorders (for example, Huntingtons chorea, Parkinson Disease, and Encephalitis Lethargica). It is noteworthy to state that only isolated and minor structural alterations (mild ventricular dilation prominent sylvian fissures and cysts, etc.) have been identified by computer tomography or magnetic resonance imaging. The current thought supports the understanding that TS may be produced by alterations within the basal ganglia by abnormalities of its major fiber pathways and by lesions in other brain regions that have prominent interconnections with the basal ganglia. For instance, the striatum, a nuclei of the basal ganglia, is a system of dense interconnections, that is, the motor circuit centered in the putamen receives efferent projections from motor and somatosensory cortices and has afferent projections through the ventrolateral nucleus of the thalamus to the supplementary motor area within the frontal lobe. Consequently, a biochemical abnormality at several locations within the circuit could produce the symptoms found in Tourette Syndrome. In light of this connection, two systems have been identified as possible sources of biochemical abnormalities, the activities of central neurotransmitters

844

and purine metabolism. The central neurotransmitter hypothesis suggested in TS is based primarily on the response of symptoms to specific medications on studies of neurotransmitter metabolites in cerebrospinal fluid and on limited analysis of postmortem brain samples. The available data indicate that evidence for a defect in dopaminergic system is suggestive and not conclusive. The dopamine hypotheses suggest that TS is due to either an excessive amount of dopamine or an increased sensitivity to neurotransmitters. The second hypothesis connects TS to supersensitive (increased number or increased affinity) postsynaptic dopamine receptors. The evidence for supersensitivity theory is based on reports of lowered baseline and turnover levels of homovanillic acid (HVA) a majority metabolite of brain dopamine. The purine theory on TS is based on male predominance, claimed similarities in self mutilating behavior and a reported abnormality of the enzyme hypoxanthine-guanine phosphoribosyl transferase (HGPRT). The varied symptoms of TS generally are divided into motor, vocal, and behavioral manifestations. Simple motor tics are fast, darting and meaningless muscular events. They can be embarrassing or even painful. Complex motor tics are virtually any type of movement that the body can produce. Complex motor tics may be slower or more purposeful in appearance and are more easily described. Vocal tics extend over a similar spectrum of complexity and disruption as do motor tics. As the name implies the presence of tics is the cardinal symptom in all tic disorders. The simultaneous performance of a cluster of simple motor tics may produce complex movements. Similarly vocal tics may be simple sounds throat clearing, grunting, sniffing, snorting, squeaking, and barking while complex vocalizations may include syllables, actual words (no, no, my, my) phrases (oh boy, my god, gracious lord) or full sentences , palilalia,

845

echolalia, or most distressing coprolalia. Most vocal tics tend to occur at phrase junctions during speech, resulting in blockage or hesitation.

Range of Symptoms Observed in Tourette Symptoms MOTOR Simple Motor Tics: fast, darting, and meaningless. Complex Motor Tics: slower and may consist of stereotyped series of movements and may appear purposeful (included copropraxia, and echopraxia). VOCAL Simple Vocal Tics: meaningless noises and sound. Complex Vocal Tics: meaningful utterances such as words and phrases, interruptions in the flow of speech, sudden alterations in pitch or volume. BEHAVIORAL AND DEVELOPMENTAL Often associated with attention deficit hyperactivity disorder, obsessions and compulsions, emotional lability, irritability, impulsivity, aggressivity, and self injurious behaviors, various learning disabilities, social difficulties including peer rejection

Examples of Motor Symptoms Observed in Tourette Syndrome Simple Motor Tics Eye blinking Grimacing Nose twitching Lip pouting Shoulder shrugging Arm jerking Head jerking Kicking Tooth clicking frowning

846

Complex Motor Tics Clapping Throwing Hopping Head banging Picking scabs Rolling eyes upward or side to side Touching objects (others or self) Biting the mouth, lip, arm Making funny expressions Kissing, pinching, Pulling back on a pencil while writing Tearing paper or books Copropraxia Giving someone the finger, grabbing genitals and other obscene gestures. Echopraxia Imitating gestures or movements of other people Examples of Vocal Symptoms observed in Tourette syndrome Simple vocal tics Coughing Spitting Barking Grunting Gurgling Clacking whistling Hissing Sucking sounds Syllable sounds such as uh, uh eee bu Complex Vocal Tics oh boy, you know, shut up, whats that all right youre fat Rituals Repeating a phrase until it sounds just right and saying something over 3 times. Speech atypicalities

847

Unusual rhythms, tone, accents, loudness and very rapid speech Coprolalia Obscene aggressive or socially unacceptable words or phrases. Palilalia Repeating ones own words or parts of words. Echolalia Repeating sounds, words, parts of words of others The DSM-IV diagnostic criteria include observation of both multiple motor and one or more vocal tics at some time during the illness, although not necessarily concurrent. (An observable clinical tic is a sudden, rapid, recurrent, nonrhythmic stereotyped motor movement or vocalization). The tics occur many times a day, usually in bouts nearly everyday or intermittently throughout a period of more than one year. During this period there is usually never a tic-free period of more than three consecutive months. The disturbance causes marked distress or significant impairment in social, occupational or other important areas of functioning. The onset is usually less than eighteen years of age. The disturbance is not due to the direct physiologic effects of a substance, (for example stimulants) or a general medical condition as seen in (for example Huntingtons disease or postviral encephalitis). The differential diagnosis of TS includes the exclusion of most conditions that may be confused with the disorder that are on the same spectrum, for example transient tic disorder, and differ from TS with respect to duration of tics or the absence of both motor and vocal tics. Clinical observable conditions in which tics and Tourette like behaviors may occur include tardive

848

dyskinesia, autism, mental retardation, Wilsons disease, sydenhams chorea, and Huntingtons disease. Learning difficulties have been observed in children with TS and tics have been shown to be more prevalent in special education classes. Several factors including severe tics, ADHA, OCD, medications and psychosocial problems can serve as potential catalysts for poor school academic performance in children with tics. A broad range of formal psychoeducational assessments delineate normal levels of general intellectual function with deficits in reading skills, mathematics, visuo-perceptual skills, visuo-motor skills, the use of written language, and variability between verbal and performance IQ. Like any other neurodegenerative disease and related disorders the neurobiology of TS is not clearly understood. In 1885, George Gilles de la Tourette noted no anatomical or pathological cause of the disorder, and rather referred scientists interested in pursuing pathophysiologic mechanisms to the field of psychology (Singer, 1993). To this end early hypotheses linking psychiatric or emotional etiology have been replaced by ones evoking abnormalities in specific brain regions and synaptic neurotransmission deficit (Singer, 1993). Therefore, on the basis of clinical presentations the exact neuroanatomical localization of the dysfunction in TS remains unknown. The neurological assessment of Tics, a principal symptom in TS that wax and wane usually show no focal abnormalities. Also, a group of electrophysiological studies on TS patients have not clarified the underlying mechanism of TS. What is understood from these kind of studies is that the movement seen in TS patients are not generated through typical pathways, this makes the clinical features of TS seen in these studies difficult to interpret. Even more difficult is the understandings that gross morphological and routine histological analysis of

849

postmortem brains from person who had TS during their life time have also failed to identify a specific focus or region of lesion of abnormality. If TS is considered a disorder of frontal-subcortical circuits, this then supports the basal ganglia alterations hypothesis that involves abnormalities in basal ganglia major fiber pathways and the interconnections within the basal ganglia. The motor circuit originates from the supplementary motor area of the frontal cortex and then projects to the putamen in a somatotopic distribution. The oculomotor circuit begins in the frontal eye fields and connects to the central region of caudate nucleus. The dorsolateral prefrontal circuit links Brodmans area 9 and 10 with the dorsolateral head of the caudate nucleus and appears to be involved in executive function and motor planning. The lateral orbitofrontal circuit originates in the inferolateral prefrontal cortex and projects to ventromedial caudate. Major clinical features associated with orbitofrontal lesions and injuries are personality changes, mania, disinhibition, irritability, and obsessive-compulsive disorders (OCD). The anterior cingulate circuit arises in the anterior cingulate gyrus and projects to the ventral striatum which receives input from the amygdala, hippocampus, and entorhinal and perirhinal cortex with associated deficits as mutism, apathy, and OCD. In humans and non-human primates, the stimulation of specific frontal brain regions for example supplementary motor area (SMA) and cingulated gyrus as well as amygdala have evoked the clinical appearance of repetitive, sterotypes tic-like movements (Singer, 1993). The distribution of classical neurotransmitters within the basal ganglia circuits provides clinicians the opportunity to link several neurotransmitters involvement in TS. The predominant afferent inputs to the basal ganglia arise from the cerebral cortex and are believed to be both excitatory and glutamatergic. Most neurons within the striatum and

850

pallidum use the inhibitory transmitter gamma-aminobutyric acid (GABA). The clinical features of TS provide a unique challenge and opportunity for studying the interactions among behaviors, genetics and brain neurophysiology. The school based speech language pathologist has a unique opportunity to provide service for TS children. Studies have reported language and cognitive deficits in young children with TS. Therefore language, cognitive, and education training represent major rehabilitation goals that enable the TS children to realize their potential in school despite the social stigma of the disorder. Because of the broad range of TS symptoms, a confirmed diagnosis may be delayed. The cause of tics is usually mistakenly associated with psychological, respiratory, and ophthalmologic conditions. The delay in diagnosis may lead to inappropriate intervention programs that can exacerbate the problems in the relationship of TS children and their families. A comprehensive multidisciplinary intervention plan involves language, cognitive, educational, psychotherapeutic, behavioral, familial, and medical components. Service delivery to TS children must be systematically coordinated because of the number of professionals involved. Typically, children with TS learn best in a moderately structured classroom, although there are individual variations. TS children need the guidance of clearly stated directions from service providers and teachers. Also, they need some opportunity for freely expressed physical activity. When tics are in the waxing stage, TS children may need a refuge such as brief time in the school nurses office, the speech language pathologists therapy room, a corner of the library, a counselors office or any other private area where the expression of a symptom would not be embarrassing. The range of accommodation for TS school children may include a buddy system for note taking, opportunity for oral response to tests, extended time for examinations, and use of

851

tape recorder in lecture courses, resource room, tutoring, special schooling, and word processing.

Classroom Strategies and Techniques for Students with Tourette Syndrome For Tic Symptoms Provide tests in a separate location Allow time limits Educate other students who may come in contact with the student with TS. Develop a mentor peer-service program for TS children in the schools Provide a location where students can go to calm down, release tics, or obsessions Fine Motor and Visual Motor Impairment Provide the use of a computer with proper accommodations. Provide tests and reports orally. Consider waiving time limits on tests. Involve the occupational therapist and speech language pathologists intervention and sensory integration. Shorten assignments as much as possible. Develop a peer buddy system to verify all homework assignments copied accurately. Utilize graph paper to assist students with lining up their math problems Provide alternatives for tests, assignments (e.g., orally, taped, or speech recognition software, etc.). Provide students class notes rather than having the student copy from the chalkboard or overhead. Use highlighters to specify important information. Obsessive Compulsive Symptoms (OCD) It is imperative to assess, observe, and evaluate the nature of the obsessions and brainstorm possible solutions with the multidisciplinary teams for student success. Allow transition time between activities for students with TS. If a student is obsessed with a germ or disease, encourage student to carry some type of sanitizer (e.g., purell) and keep in pockets to wash hands when needed.

852

Short Fuse Difficulties Students with TS and associated disorders may become easily frustrated, and exhibit increased anxiety to any situation. TS students do not function well in an unstructured, disorganized classroom. Many have difficulty with crowded hallways, cafeteria, and school bus. So careful planning is needed amongst the team to ensure academic success for these children.

Suggestive Interventions for TS Students with Short Fuse Spans Allow the student to depart classroom early before dismissal in order to avoid crowded hallways. Assign a teacher aid, and/or have a support volunteer nearby in the cafeteria and playground to prevent confrontations. Educate the bus driver and other personnel workers that come in contact with the student in order to better understand and provide effective services to meet needs. Consider removing the student from a room before a situation or event escalates out of control. ADHD Symptoms of TS Students Provide preferential seating in the classroom, cafeteria, playground, and bus. Develop a quite place for working in the classroom for the TS student. Use a headset with relaxing music helps to block out distractions. Allow freedom of movement and flow in the classroom (e.g., quick trip to bathroom, drinking water fountain, snack machine, etc.). Provide structured but flexible classroom environments. Change tasks frequently. Break down all long range assignments and projects into shorter manageable parts by partitioning the time frame when they are due, e.g. part 1 due in 3days and the entire project due in 5days. Reduce length of homework assignments to a minimum. Provide an extra set of textbooks for home. Use a color coding system to assist with organization (e.g., red folder goes with computer, blue folder goes with science, etc.).

853

References Brunn, R. D., Cohen, D. J., Leckman, J. F. (1995). Guide to the diagnosis and treatment of Tourette syndrome. Jackson, MS: Tourette syndrome Midsouth Region Chapter. Gilles de la Tourette G (1995). Etude sur une affection nerveuse caracterisee par de lincoordination motrice accompagn`ee decholalie et de copralalie. Arch Neurol; 9: 19-42, 158-200. Goetz CG, Tanner CM, Stebbins GT, Leipzig G., Carr WC (1992). Adult tics in Gilles de la Tourettes syndrome: description and risk factors. Neurology; 42:784- 788. Itard, JMG. (1825). Memoire sur quelques functions involontaies des appareils de la locomotion de la prehension et de la voix. Arch Gen Med 8: 385-407. Jankovic, J., Stone, L. Dystonic tics in patients with Tourettes syndrome (1991). Mov Disord; 6: 248-252. Kurlan, R., Lichter, D., Hewitt, D (1989). Sensory tics in Tourettes syndrome. Neurology 1989; 39: 731-734. Lang A. Patient perception of tics and other movement disorders. Neurology 199; 41: 223-228. Leckman JF, Walker DE, Cohen DJ (1993). Premonitory urges in Tourettes syndrome. Am J Psychiatry 1993; 150: 98-102. Lucas, A.R., Beard, C.M., Rajput, A. H., Kurland, L. T. (1982). Tourette syndrome in Rochester, Minnesota, 1968-1979. In: Friedhoff A. J., Chase, TN, eds. Gilles de la Tourette Syndrome. New York: Raven Press, pp. 267-269. Singer, H.S. (1994). Neurobiological issues in Tourette Syndrome. Brain & Development, 16, 353-364. Singer, H. S. (1993) Pathbiology. In Kurlan R, ed. Handbook of Tourettes syndrome and related tic and behavioral disorders. New York: Marcel Dekker, 267-288. Singer, H.S, Hahn I-H, Moran T.H.(1991). Abnormal dopamine uptake sites in postmortem striatum from patients with Tourette syndrome. Ann Neurol; 30: 558562. Singer, H.S, Hahn I-H, Krowiak, E., Nelson E, Moran T. (1990). Tourette syndrome: a neurochemical analysis of postmortem cortical brain tissue. Ann Neurol 27: 443446.

854

Reproduced with permission of the copyright owner. Further reproduction prohibited without permission.