Tourette’s Disorder DSM-5 307.23 (F95.2)
DSM-5 Category: Neurodevelopmental Disorders
Introduction
Tourette Syndrome (TS), also called Tourette disorder or Gilles de la Tourette Syndrome, is a chronic and inherited neuropsychiatric disorder characterized by physical and vocal tics that begin in childhood. Although it is classically associated with involuntary uttering of obscenities (coprolalia), this dramatic symptom is not the cardinal manifestation of the condition. There have been several modifications of the diagnostic criteria for this condition in the Fifth Edition of the Diagnostic and Statistical Manual of Mental Disorders (American Psychiatric Association, 2013), aimed at differentiating persistent or chronic tics from those that have present for a year or less and might still turn out to be due to some other disorder, and removing the requirement that tics cause the patient functional impairment.
The disorder was described in 1885 by Georges Gilles de la Tourette, who called it maladie des tics, and was later named after Tourette by Jean-Martin Charcot, the founder of modern neurology, whom Tourette served as student, house physician and assistant. Among other duties, Tourette organized the clinical demonstrations at which Charcot provoked and resolved hysterical symptoms by hypnosis, which strongly influenced Sigmund Freud (Waluskinski and Duncan, 2010). Tourette’s index case was the Marquise de Dampierre, an aristocrat who became house-bound in her chateau because she “ticked and blasphemed” from age 7 until her death at 50. Eight other cases seen at the Salpetriére hospital were described as a new type of hereditary and progressive “nervous affliction” (Teive et al., 2008).
Cases of physical and motor tics were reported in earlier times. The notorious 15th-century manual for the investigation and prosecution of witchcraft, Malleus Maleficarum (“The Hammer of Witches”), described a priest whose vocalizations and gesticulations were “believed to be related to possession by the devil” (Germiniani et al., 2012).
Tic disorders were ascribed to psychogenic causes and largely treated with psychoanalysis, despite the many cases of tics that arose from the 1918-1926 epidemic of encephalitis lethargic (von Economo’s disease). The introduction of dopamine-blocking neuroleptics led to haloperidol treatment of Tourette syndrome in Europe in 1961 and in the United States in 1965 (Rickards, Hartley and Robertson, 1997). This led in turn to extensive epidemiological, neurochemical, genetic and therapeutic research, and to the inclusion of the disorder in the DSM-3-R in 1980 (American Psychiatric Association, 1980).
Symptoms of Tourette’s Disorder
The disorder is characterized by tics, which are sudden repetitive utterances (phonic) or nonrhythmic movements (motor) that involve discrete muscle groups. A spectrum of tic disorders is now recognized, ranging from only involuntary movements to purely vocal tics, and most cases are mild and do not manifest the paroxysmal verbalizations that were classically described (Leckman et al., 2006). Tics occur unpredictably out of a background of normal motor activity, and have the appearance of “normal behaviors gone wrong” (Dure and DeWolfe, 2006), The most common motor tic is eye blinking, and throat clearing is the most frequent vocal manifestation; echolalia (repeating the words of others) and pallilalia (repeating one’s own words) occur in about 10 per cent, as does the coprolalia which is the best-known symptom of the disorder (Malone and Pandya, 2006).
Unlike many involuntary movements, tics can be suppressed by voluntary effort, but this often causes tension and mental exhaustion and cannot be maintained indefinitely. Tics are often preceded by an urge like the prodrome of sneezing or the need to scratch an itch, and the feeling of energy or pressure building up if movement or vocalization is resisted is common (Prado et al., 2008). Accumulated tics can be released explosively, and patients often feel relief after doing this at an opportune time or place (Swain et al., 2007). Because of the premonitory urge and the ability to defer them, Tourette tics are considered semi-voluntary or “unvoluntary” rather than involuntary like most other abnormal movements.(The Tourette Syndrome Study Group, 1993).
Tics usually appear at 5 to 7 years of age, but may begin up to age 18. The greatest tic severity is at age 8 to 12, and tics then decline through adolescence. Facial movements, throat clearing, sniffing and eye blinking are the most common initial tics, and tics usually begin in the head, neck or face (Zinner, 2002).
Obsessive-compulsive disorder (OCD) and attention deficit disorder (ADD) are often associated with tics, and some patients have obsessions or compulsions only in relation to tics (“tic-related OCD”). Some studies have found that about 40 per cent have “pure” TS and around 60 per cent tics plus OCD or ADD, with other disorders rarely associated, and other studies have found the reverse (Denckla, 2008).
Diagnostic Criteria
The DSM-5 (American Psychiatric Association, 2013) recognizes 3 tic disorders: Tourette disorder, chronic (persistent) motor or vocal tic disorder and provisional tic disorder. The provisional disorder requires one or more vocal or motor tics that began before age 18 but have been present for less than 12 months, and the patient must not have previously had one of the other 2 tic disorders. The chronic tic disorder involves one or more motor tic or vocal tic but not both kinds, that have occurred many times a day nearly every day for more than a year. Tics must have started before age 18, and the patient cannot meet criteria for Tourette syndrome. In both disorders, and Tourette syndrome also, the tics cannot be due to medicines, drugs or a medical condition, such as Huntington’s disease or encephalitis.
TS is characterized by multiple motor tics and multiple vocal tics, many times a day (usually in bouts) for at least a year. Tics must again have begun before age 18, but no longer need to cause significant functional impairment for the patient.
Epidemiology
TS was once thought to be rare: the National Institutes of Health rejected a grant application for a Tourette study in 1972 on the grounds that there were probably less than 100 cases in the United States, and a 1973 registry estimated that there were 475 cases world-wide. This underestimate was due to a paucity of patients referred for specialty care, as most cases are mild or unrecognized and most tics eventually resolve. Population-based samples suggest that about 1 per cent of the population have tics, 5 per cent of children have chronic tics and tics occur transiently in up to 20 per cent. It is estimated that the combination of vocal and motor tics characteristic of Tourette syndrome also occurs in about 1 per cent, more in children than in adults and 4 times as often in males as in females (Singer, 2011).
Causes
TS was recognized at its description as an inherited disorder, and the likelihood of familial transmission is about 50 per cent. Tic disorders are generally felt to be autosomal dominant in inheritance but with limited penetrance, and the two disorders most often comorbid with Tourette syndrome, OCD and ADD, both have strong hereditary components. Very high concordance rates for TS and chronic motor tic disorder in twin studies are consistent the two conditions being related genetic disorders, and segregation studies suggest at least one genetic locus with major effect, but a specific candidate gene or genes have not yet been identified (O’Rourke et al., 2009).
Structural changes have been reported in striatum and frontal cortex of children and adolescents with TS, and imaging studies in adults has suggested alteration of frontal and striatal circuits. Comparison of magnetic resonance imaging in TS patients and controls showed volume reduction in the orbitofrontal, anterior cingulate and ventrolateral prefrontal cortex as well as along portions of the mesial temporal lobe along with white matter changes, correlated with the severity of tics and the intensity of premonitory urges (Draganski et al., 2010). There is extensive evidence of dopamine excess or hypersensitivity of postsynaptic dopamine receptors in the disorder (Singer, 1997).
Treatment of Tourette’s Disorder
Treatment of TS was for too long focused on psychoanalytical management of the presumed psychosexual conflicts that caused tics, but many and perhaps most cases do not require pharmacological treatment, and treatment should often be focused on OCD, ADD or other comorbid conditions that may be a greater source of impairment (Scahill et al., 2006). Educating the patient, family, and others at school or work may be sufficient therapy; tics often subside after diagnosis, reassurance and establishment of a supportive environment (Zinner, 2000).
Relaxation techniques such as meditation may lessen situational stress that aggravates tics, but relaxation training and biofeedback have not been shown to be beneficial (Woods et al., 2006). Habit reversal training to develop a competing response to tics, which is helpful in several repetitive behavior disorders, has been found to alleviate motor and vocal tics (Piacentini and Chang, 2006). Cognitive behavioral therapy may alleviate depression and social isolation, and can encourage family support for the tic sufferer, especially with comorbid OCD (Coffey and Schechter, 2006).
Pharmacotherapy has centered on dopamine-blocking neuroleptics, chiefly haloperidol and pimozide and, which have high side-effect profiles but proven efficacy and are FDA-approved for TS. Fluphenazine is occasionally used, although with less supporting evidence. Dyskinesia in the long term, akathisia in the short term, depression, school phobia, weight gain and cognitive dulling have been reported. Adverse effects are less with atypical neuroleptics, which are more selective in their dopamine blockade or block serotonin as well as dopamine: risperidone is best supported, but quetiapine, olanazapine and ziprasidone have also been used, with attention to weight gain and the development of diabetes. Alpha2-adrenergic blocking antihypertensives have lower side-effect profiles but may require up to 6 months to work and must be discontinued gradually due to blood pressure rebound: Clonidine is effective in about 50 per cent of patients but may rarely aggravate tics; guanfacine may cause sedation along with initial anticholinergic effects.The dopamine receptor agonst pergolide has been reported to be effective, as have botulinum toxin injections. The orphan drug tetrabenazine, which inhibits the transport of dopamine and norepinephrine into synaptic vesicles by the protein Vesicular Monoamine Transporter 2 and is thus another type of dopamine blocker, is effective for tics, as is the antispasticity drug baclofen, which is an analogue of gamma-amino-butyric acid (Scahill et al., 2006; Kenney, Hunter and Jankovic, 2007).
Alternative or complementary medicine treatments are increasingly popular but have not yet been shown to be effective for TS (Swerdlow, 2005).Neurofeedback or neurobiofeedback, which involves training patients to better control their EEG activity or cerebral blood flow, is promising for various neurobehavioral disorders but has not been proven to be useful (Zinner, 2004). Nicotine and marijuana are not to be recommended lightly for the treatment of any disorder, particular one that predominantly affects children and adolescents, but nicotine infusion by patch (Sacco, Bannon and George, 2004) and the administration of cannabinoids (Singer, 2005) have been shown to improve tics. Deep Brain Stimulation with an implanted electrode, approved for Parkinson’s disease, dystonia and essential tremor and showing promise in refractory epilepsy and depression, has been used with success in adults with refractory TS and has been advocated for patients with resistant tics and severe impairment (Viswanathan et al., 2012).
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