Providing authoritative and up-to-date medical and scientific information about Tourette syndrome, A Family's Guide to Tourette Syndrome speaks to patients, families, care providers, academic institutions, and medical centers in easy-to-understand language about this neurodevelopmental disorder that affects children, adolescents, and adults worldwide. Each chapter is authored by leading neurologists, psychiatrists, psychologists, scientists, and others with expertise and research interests in Tourette syndrome. Praise for A Family's Guide to Tourette Syndrome "I am delighted to see the breadth and wealth of valuable clinical and scientific findings that have been gathered together in this comprehensive resource for families. The information provided in this book is testimony to the talent, abiding intellectual curiosity, and dedication to compassionate care and sheer persistence of each of the professionals who have contributed chapters. Their common goal was clear and selfless-to uncover sound medical and scientific data that could provide much needed answers to the baffling complexities of Tourette syndrome. A mere two decades ago, it was clear to all in the field that the prospect of obtaining sufficient funding to explore more deeply the intriguing preliminary findings uncovered about the disorder was all but non-existent. Simply put-other research funding priorities prevailed at the time. And so we can appreciate that the decision by each of them to dedicate their professional efforts to the study of Tourette syndrome is especially laudable. And for this we all owe the contributing authors a profound debt of gratitude" -Sue Levi-Pearl, Emeritus TSA Vice President Medical and Scientific Programs
A Family's Guide To TOURETTE SYNDROME
iUniverse, Inc.
Copyright © 2012 Tourette Syndrome Association, Inc.
All right reserved.ISBN: 978-1-4620-6857-9Contents
Preface................................................................................................................................................................................................................viiForeword...............................................................................................................................................................................................................ixContributors...........................................................................................................................................................................................................xiAbbreviations..........................................................................................................................................................................................................xvChapter 1: Introduction Joseph Jankovic, M.D...........................................................................................................................................................................1Chapter 2: The Diagnosis of Tourette Syndrome James F. Leckman, M.D., Michael H. Bloch, M.D., and Robert A. King, M.D..................................................................................................8Chapter 3 Psychiatric Conditions Associated with Tourette Syndrome Barbara J. Coffey, M.D., M.S. and Amanda Zwilling, B.A..............................................................................................24Chapter 4 Problems with Anger, Aggression, and Impulse Control in Tourette Syndrome Cathy L. Budman, M.D. and Joanna Witkin, B.S.......................................................................................48Chapter 5 How Common is Tourette Syndrome in Children? Lawrence Scahill, M.S.N., Ph.D..................................................................................................................................67Chapter 6 The Causes of TS and Changes that Occur in the Brain Jonathan W. Mink, M.D., Ph.D............................................................................................................................73Chapter 7 Inheritance, Genes, and TS Jeremiah M. Scharf, M.D., Ph.D. and Carol A. Mathews, M.D.........................................................................................................................82Chapter 8 Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infection (PANDAS) and Tourette Syndrome Tanya Murphy, M.D., M.S...............................................................97Chapter 9 Drug Treatments for Tourete Syndrome and Co-Morbid Disorders Donald L. Gilbert, M.D., M.S....................................................................................................................110Chapter 10 Tourette Syndrome, Pregnancy and Breastfeeding Emilie R. Muelly, Ph.D. and Cheston M. Berlin Jr., M.D.......................................................................................................125Chapter 11 Behavior Therapy Matthew R. Capriotti, B.S., Flint M. Espil, M.S., and Douglas W. Woods, Ph.D...............................................................................................................135Chapter 12 Deep Brain Stimulation for Tourette Syndrome Michael S. Okun, M.D., Herbert Ward, M.D., Irene Malaty, M.D., Nikki Ricciuti, RN, CCRC, LMHC, Candy Hill, Ph.D., and Kelly D. Foote, M.D......................145Chapter 13 Complementary and Alternative Therapies.....................................................................................................................................................................155Chapter 14 The Psychosocial Aspects of Tourette Syndrome: A Family Guide and Perspective...............................................................................................................................171Chapter 15 Living with Tourette Syndrome...............................................................................................................................................................................193Chapter 16 Parenting A Child with Tourette Syndrome....................................................................................................................................................................209Chapter 17 History and Research into Tourette Syndrome.................................................................................................................................................................222Chapter 18 Frequently Asked Questions and Answers About Tourette Syndrome..............................................................................................................................................229
Chapter One
INTRODUCTION Joseph Jankovic, M.D.
INTRODUCTION
In this introductory chapter, I try to provide a brief overview of TS with a focus on the most important topics. The subsequent chapters in this book, written by Tourette syndrome experts in an easy-to-understand language, will expand on the topics introduced here.
In 1885, Georges Albert douard Brutus Gilles de la Tourette, a 28 year old student of Jean-Martin Charcot, professor at the famous Salptrire Hospital in Paris and considered by many as the father of modern neurology, published "A Study of a Neurological Condition Characterized by Motor Incoordination Accompanied by Echolalia and Coprolalia". Gilles de la Tourette (abbreviated in the literature and in this book as Tourette) described 9 patients and noted that all shared one feature—they all exhibited brief involuntary movements, which we now call "motor tics". Additionally, 6 made noises, so called "vocal or phonic tics", 5 shouted obscenities, so called "coprolalia", 5 repeated the words of others, so called "echolalia", and 2 mimicked others' gestures, so called "echopraxia". Despite the recognition by his mentor, Charcot, and his professional accomplishments, Tourette lived a troubled personal life. Shortly after the tragic death of his young son, Tourette was shot in the head by a paranoid young woman. During the turn of the century, Tourette's behavior became erratic and bizarre, likely due to neurosyphilis, and his wife had to commit him to an asylum in Switzerland where he remained until his death in 1904.
Although Tourette considered the disorder he described to be hereditary, the cause was wrongly attributed to psychological causes for nearly a century following the original report. The perception of TS begantochangeinthe1960swhenthebeneficialeffectsofantipsychotic drugs, such as haloperidol, began to be recognized. This observation helped to change the view of the disorder from primarily "mental" to an organic, biological, disorder due to an abnormality of the brain circuitry involved in mediating motor and behavioral functions.
TICS
Tics, the clinical hallmark of TS, are relatively brief and intermittent movements (motor tics) or sounds (vocal or phonic tics). Currently accepted criteria for the diagnosis of TS require both types of tics, motor and phonic, to be present. This division into motor and phonic tics, however, is artificial, because the wide variety of sounds that TS patients make are actually motor tics that involve muscles of the nose, mouth, throat, and other structures besides the voice box (larynx). Therefore, the term "phonic" is preferable to the term "vocal" tic. Tics may be simple or complex. Simple motor tics involve only a small group of muscles, causing a movement that can be jerk-like ("clonic tic"), more sustained ("dystonic tic"), and in some cases the tic may be manifested by a simple contraction of a muscle ("tonic tic") or a brief cessation of motor activity ("blocking tic") without any accompanying movement. Examples of simple motor tics include blinking, nose twitching, mouth opening, head jerking, shoulder rotation, or tensing of abdominal or limb muscles. Complex motor tics consist of coordinated, sequenced movements resembling normal motor acts or gestures, such as touching, throwing, hitting, jumping, and kicking. Other examples of complex motor tics include inappropriate or obscene gesturing (copropraxia) or imitating other people's gestures (echopraxia). Burping, vomiting, retching, and air swallowing are also common forms of complex tics seen in patients with TS.
In addition to motor tics, patients with TS exhibit simple phonic tics, such as sniffing, throat clearing, grunting, squeaking, screaming, coughing, blowing, and sucking sounds. Patients may also have complex phonic tics such as coprolalia, echolalia, and repetition of one's own utterances, particularly the last syllable, word or phrase in a sentence, so called palilalia. Although many people mistakenly equate TS with shouting of obscenities, coprolalia or copropraxia is present in only about 20% of all patients with TS.
One characteristic of a tic, which helps to differentiate this movement disorder from other abnormal involuntary movements, is the frequent presence of premonitory sensations, which precede tics in over 80% of TS patients. This premonitory phenomenon consists of sensations or discomforts, such as a burning feeling in the eye before an eye blink, tension or a crick in the neck that is relieved by stretching of the neck or jerking of the head, or a feeling of tightness or constriction that is relieved by extending an arm or leg. Many patients with TS are able to suppress their tics, for example while in public or in school or when playing video games, and release them when they are in a more comfortable environment, such as when not being observed or after returning home from school.
OTHER PROBLEMS ASSOCIATED WITH TS
In addition to tics, many patients with TS exhibit a variety of behavioral symptoms such as attention deficit with or without hyperactivity (ADHD), obsessive compulsive behavior or disorder (OCD), poor impulse control and many other behavioral problems, including oppositional defiant disorder, anxiety, depression, temper outbursts, rage attacks, self-injuries, and inappropriate sexual behavior. These and other behavioral comorbidities are discusses in subsequent chapters in this book.
MISCONCEPTIONS
There are many misconceptions about TS, not only stemming from its misclassification as a "mental" disorder. For example, traditional descriptions of tics often stated that the movements and noises disappear during sleep. This is not the case as researchers have demonstrated by all-night sleep and brain wave electroencephalogram recordings (polysomnography) that tics may persist during all stages of sleep. Another misconception is that TS occurs only in children. While the diagnostic definition, currently still based on the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, which is currently under revision and DSM-5 is expected to be released soon, requires that tics start before the age of 18 years, TS can clearly persist into or recur in adulthood. In fact, most tics in adults represent recurrences of childhood tics.
CAN TICS BE HARMFUL?
Tics, although rarely disabling, can be quite troublesome for TS patients because they cause embarrassment, interfere with social interactions, and at times can be quite painful or uncomfortable. Rarely, neck tics may be so forceful and violent, the so-called "whiplash tics", that they may cause neurologic deficits, such as carotid artery dissection, and secondary spine changes associated with compression of the spinal cord. Patients, parents and physicians must be aware of these potentially dangerous tics as these represent neurologic emergencies and must be treated promptly.
THE PROGNOSIS
The natural history of TS is quite variable, but on the average, tics (and ADHD) usually first appear around the age of 6 years and usually become most severe at age 10, just before puberty. All symptoms usually spontaneously improve by 18 years of age at which time about half of the patients become tic-free. Although tics and ADHD usually markedly improve by late teens, OCD symptoms tend to persist into adulthood and in some cases tics re-emerge in middle or older age.
FREQUENCY
Although the worldwide prevalence of TS has been reported to range from 0.3% to 0.8% of all children, some epidemiological studies suggest that up to 24% of children may have tics sometime during their childhood, and up to 2-3% of all children develop some features of TS.
CAUSE(S)
TS is one of the most common genetic disorders of childhood, but the causative gene or genes have not yet been identified. Mutations in two genes, the Slit and NTRK-like family, member 1 gene on chromosome 13 and the L-histidine decarboxylase gene on chromosome 15, recently have been reported to cause TS, but when studied in large populations of TS patients, no abnormalities have been found in these genes, suggesting that they account for a very small proportion of all patients with TS.
Besides genetic causes, there are many other reasons why some people develop tics and other symptoms of TS, sometimes referred to as "tourettism". These include infection, head trauma, stroke, multiple sclerosis, cocaine and other drugs, cerebral palsy, autistic disorders, and many other causes.
The exact mechanism of tics and the various behavioral comorbidities is not known but the weight of evidence from a large body of laboratory and clinical research supports the hypothesis that TS arises from abnormalities in the brain circuitry that primarily involves the surface of the brain, called cortex, and deep brain structures called the basal ganglia. It has been hypothesized that as a result of genetic and other abnormalities the connections between these brain areas are disrupted, leading to loss of inhibition or disinhibition of normal motor and behavioral brain pathways.
ABNORMALITIES IN THE BRAINS OF PATIENTS
Only a few brains of patients with TS have been studied at autopsy. Detailed examination of these brains found essentially no abnormalities except for some evidence of mild cell loss, but this requires further study and confirmation. Biochemical studies have shown some subtle abnormalities in certain neurotransmitters and receptors, but no consistent changes have been identified.
ARE THERE ANY TESTS THAT CAN BE DONE TO DIAGNOSE TS?
The diagnosis of TS is based strictly on clinical criteria and there is no laboratory test that indicates or confirms the diagnosis. Blood tests are rarely needed to exclude other causes of tics, such as prior streptococcal infection or red blood cell abnormality called acanthocytosis. Likewise, brain wave electroencephalogram or brain scan Magnetic Resonance Imaging is almost never needed in the evaluation of patients suspected of TS unless there are some neurological abnormalities identified on examination. Although standard MRIs are usually normal, some studies evaluating large groups of patients with TS have identified some subtle changes. For example, instead of the left side of the brain being larger than the right side, the two sides are the same size.
TREATMENTS
The treatment of TS must be individualized and tailored to the specific needs of each patient and not every patient with TS requires therapy. The patient, parents, teachers, counselors, and physician must work as partners in selecting the best school or work environment for the patient in order to optimize productivity and achieve full potential. This might include extra break periods and a refuge area to allow the release of tics, waiving time limitations on tests or adjusting timing of tests to the morning, and other measures designed to relieve stress. National and local support groups can provide additional information and can serve as a valuable resource for the patient and his or her family (www. tsa-usa.org).
Before discussing treatments with medications, a few remarks about behavioral therapy. The Comprehensive Behavioral Intervention for Tics (CBIT) disorders, primarily based on utilization of habit reversal therapy, a technique that employs competing-response training teaches the patient to initiate a voluntary behavior to manage the premonitory urge, has been recently found effective in a controlled clinical trial. The success of this behavioral management is critically dependent on active involvement by the parents and the therapist, both of whom must be well trained and skilled in the various CBIT techniques.
While behavioral therapy may be helpful for some patients, those whose symptoms are troublesome and interfere with daily functioning or social interaction usually require medications to manage their symptoms. All medications should be instituted at low doses and gradually increased in an attempt to find the optimal dosage. Another important principle of therapy in TS is to give each medication an adequate time before the dosage is adjusted or before it is concluded that the drug is not effective. Although selection of appropriate drug should be based on evidence derived from placebo-controlled studies, such clinical trials are often lacking and, therefore, personal experience of the physician often drives the selection of the drug. The following drugs have been found to be useful in the treatment of tics: fluphenazine, risperdal, and tetrabenazine. Although not yet studied in large clinical trials or approved by the Food and Drug Administration, tetrabenazine is gradually emerging as an effective and safe drug in the treatment of tics. The drug is well tolerated, but some patients experience drowsiness, depression, insomnia, and restlessness. Its main advantage over the conventional anti-tic medications, such as haloperidol and pimozide, the only two drugs currently approved by the Food and Drug Administration for the treatment of TS, is that it does not cause tardive dyskinesia. Other drugs used in the treatment of tics include clonidine, guanfecine, clonazepam and topiramate. Motor tics, particularly if they are localized to only one area (such as blinking, facial grimacing, neck tics) may be successfully treated with botulinum toxin injections in the affected muscles.
Central nervous system stimulants, such as methylphenidate, dexmethylphenidate, methamphetamine, dextroamphetamine, levoamphetamine, pemoline, and lisdexamfetamine dimesylate are clearly the most effective agents in the treatment of ADHD. Although imipramine and desipramine have been reported to be useful in the treatment of OCD, the most effective drugs are the selective serotonin reuptake inhibitors, such as fluoxetine, fluvoxamine, clomipramine, paroxetine, sertraline, venlafaxine, citalopram, and escitalopram, and citalopram. Surgical treatment of TS using deep brain stimulation should be reserved only for patients with disabling symptoms unresponsive to medical therapy.
Chapter Two
THE DIAGNOSIS OF TOURETTE SYNDROME James F. Leckman, M.D., Michael H. Bloch, M.D., and Robert A. King, M.D.
INTRODUCTION
In this chapter, we discuss the key clinical features of TS. This is important for several reasons. First, our understanding of this condition and related disorders has increased a great deal over the past 30 to 40 years, and it is important to become familiar with what is known about key aspects of the symptoms of TS. Second, if you are looking at this book, you are probably wondering if someone you know has TS. This chapter will describe what TS looks like from the outside and how it feels on the inside. We will also cover how the condition typically changes over an individual's lifetime.
WHAT ARE TICS?
Tics are often more easily recognized than precisely defined. Tics are sudden, rapid, motor movements or sounds that recur. Usually, tics can be easily mimicked and they can be confused with normal movements or sounds. They have a "stereotyped" quality which simply means that the tic looks or sounds more or less the same each time it occurs. Tics can be thought of as fragments of normal behavior that appear without any logical reason. Tics can be easily mimicked and they can be confused with normal movements or sounds. If the observer (a parent, teacher, or a peer) does not know better, they may think that tics are being done "on purpose." This can be very problematic as we discuss below.
Tics are described based on their anatomical location, number, frequency, and duration. Another useful descriptor is the intensity or "forcefulness" of the tic, as some tics call attention to themselves simply by virtue of their exaggerated, forceful character. Finally, tics are also described in terms of their "complexity." "Simple tics" are sudden, brief (usually less than 1 second in duration), meaningless movements or sounds. "Complex Tics" are sudden, more purposive appearing, stereotyped movements of longer duration that can include "orchestrated" combinations of motor or vocal, or motor and vocal, tics. The observed range of tics is extraordinary, so that virtually any voluntary motor movement or vocalization can emerge as a tic. Table 1 presents a brief compendium of some of the more common motor and vocal tics sorted by how "complex" the tics are.
Complex tics are rarely observed in the absence of simple tics. Within the larger group of complex tics there are specific forms of tics that have their own names. Some complex motor movements are considered dystonic tics, which are a set of sustained muscle contractions that can cause twisting movement of the body, resulting in an abnormal posture. Gilles de la Tourette in his original description was intrigued by a range of complex tics including the imitation of gestures (echopraxia) or sounds or words (echolalia). Doctors call the rude or obscene gestures with hands or tongue "copropraxia" and the uttering of obscenities or rude speech "coprolalia". Self-injurious complex tics (hitting the face, biting a hand or wrist) are rarely observed in those with TS. Unfortunately, these tics are often featured in the media (talk shows, movies, etc.) because of their sensational character and leave the unsuspecting public with an incorrect impression of what TS is.
PREMONITORY SENSORY URGES AND THAT "FLEETING AND INCOMPLETE SENSE OF RELIEF"
Tics are temporarily suppressible and often preceded by a premonitory urge which is similar to the sensation prior to a sneeze or the itch that leads to a scratch. Individuals describe premonitory urge as the buildup of tension in a particular body location. Examples of premonitory urges include the feeling of having something in one's throat, or a localized discomfort in the shoulders, leading to the need to clear one's throat or shrug the shoulders, respectively. Depending on the intensity of the urge, the individual may consciously decide to tic or not to tic. However, if the urge is very strong, it can be perceived as impossible to resist and may even become the reason a person with TS gives for ticcing. The actual tic may be felt as relieving this tension or sensation, similar to scratching an itch. After the tic is done, there is often a fleeting and incomplete sense of relief. It is also important to note that young children under the age of 10 years do not report these urges. It is unknown if the urges actually develop later in the course of the disorder, or young children are unaware of these urges like they are sometimes unaware of their tics.
(Continues...)
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