Concepts applicable to an understanding of Tourette's and comorbid disorders that are often unavailable in books
Tourette Syndrome: Minimizing Confusion
This "Blog" (WebLog) is intended primarily for parents who have children newly diagnosed with Tourette syndrome ["TS"] in our Neuropsychiatry Clinic at British Columbia Children's Hospital, Vancouver. About 60% of our cases are seen for tic disorders. The information herein may also be of interest to others, but it should not be taken as individual medical advice, nor as a substitute for contact with a physician.
You may e-mail me suggestions for more questions, at: rfreeman (at) cw.bc.ca Worthy questions or comments will be incorporated.
The responsibility for the contents remains solely mine -- Roger D. Freeman, M.D., Clinical Head
1. TS is not a disease, it is a syndrome (maybe even a group of syndromes), a cluster of recognizable patterns. There are no tests for it. The diagnosis is by history and observation only, and the boundary is fuzzy. No one has decided how many tics a day are necessary to call it a tic disorder. (Spitting 3 times in school, for example, will probably result in a phone call to you as a parent, whereas 10,000 eye-blinks won't!) Although tics are often described as "rapid" or "sudden," not all are; some tics are "held" or "tonic" movements involving freezing in a position for a few seconds. "Purposeless" is another descriptor, but because many tics are preceded by an uncomfortable feeling to which the tic is a response, this word also isn't very satisfactory. 2. The definition of TS has changed over time and is not fixed. The definition is intended for clarity among clinicians and researchers. It does not represent a "thing" that you have. 3. The definition does not require coprolalia (uncontrollable use of socially unacceptable words or phrases), though media presentations emphasize it because it can be dramatic. The definition is simply a multiple, changing pattern of tics (not necessarily at the same time) for at least 12 months, including at least one vocal tic. (There is no requirement for severity or impairment.) You can qualify for a TS diagnosis and function normally. 4. Coprolalia does occur at some point in 19% of males and 15% of females, but usually isn't disabling and may not be long-lasting. Our paper "Coprophenomena in Tourette Syndrome" was published in Developmental Medicine & Child Neurology (2009) Vol 51: 218-227. 5. About 11-20% of persons coming to clinics have no other disorder, or could be referred to as "TS-Only." They tend not to have other problem behaviours. 6. The others meet, on average, criteria for 2 additional disorders, most often ADHD and/or obsessive-compulsive disorder [OCD]. This has been termed "TS+" by Dr. Leslie Packer, and this usage is helpful. Persons with TS+ are more likely than TS-Only to have problematic behaviours. Along the course of development, someone with TS-Only can acquire the symptoms of another disorder and then be re-labelled TS+, and vice versa: someone we'd term "TS+" may have symptoms lessen and no longer meet criteria; then he/she is back at "TS-Only." (Warning: because each disorder itself varies, it's still possible to have a more serious problem living with TS-Only than with TS+, and of course this can change over time.) 7. The severity or impact varies tremendously, from very mild and not noticed by some people, to very severe in a small proportion of cases. The actual impact depends upon a number of other factors: whether the particular tics you have at the moment are annoying, interfere with other movements, activities, attention span or sleep, and whether there is talent, interest, a sense of humour, social skills, etc. Some people are very tolerant of tics in themselves or others, others less so. 8. Co-occurring or "comorbid" problems or disorders often determine the impact of the TS, as well as whether medical treatment is needed. One should be very careful to not attribute everything to the TS diagnosis; if you do, you may overlook important possibilities. 9. Because obsessive-compulsive symptoms and tics share certain features and likely brain circuits, it's not always possible to distinguish a complex tic from a compulsion. A compulsion, by definition, requires the involvement of thoughts (which you may not be able to elicit from a child), whereas tics don't. (You can have both.) 10. "Stress" or emotional factors do not cause TS, but may temporarily aggravate tics. Warning: some older books and some clinicians may tell you that if you pay attention to tics, they will certainly become worse, and conversely, that if you completely ignore them they will subside. There is confusing and not a good way to run your family life! There is now evidence that some environmental factors may influence the severity of tics (such as time of day, situation, etc.). It's best to consider most TS to be a developmental variant of normal that will probably become more stable and less obvious in and after adolescence. The worst ages for severity seem to be from 10-12 years. Remember, TS is not "psychogenic" or caused by emotional problems, or the way a child was raised. 11. Those common twitches of the upper or lower eyelid that you can feel but are difficult to see except by looking closely in the mirror are not tics, they are twitches of a few muscle fibre bundles, not a whole muscle. (Tics usually involve several whole muscles.) All repetitive behaviours are not tics! (We are researching other repetitive behaviour patterns.) 12. In any one year, about 10-20% of school-age boys have at least one tic, so tics are very common, and often not recognized as tics. About 0.5-1% of the child population meet current criteria for TS. 13. Everywhere in the world there are many more males than females with tics (a ratio of 3:1 or as high as 10:1 in some places), and the average age of onset of tics is about 6 years, so infection, diet, and environmental toxins are highly unlikely to be sufficient causes (otherwise these uniform findings would probably not obtain everywhere).
Genetics. Genes that cause tics have not yet been identified; it's very unlikely there's just one. Tics are very familial, but not in a Mendelian pattern (dominant, recessive, etc.). You can't "inherit" the committee decision to define a problem in a specific way, so what we call TS can't itself be inherited. It's a tic disorder that we think is familial. (Put another way, if you have TS, there is an increased chance that your child will have a tic disorder of some kind (not necessarily TS), or maybe the closely-related OCD, with or without tics.)
Treatment. Most persons with TS do not require medication for their tics. Some with TS+ require treatment of comorbid disorders, which often cause more trouble than the tics. (A recent study from Chicago showed that quality of life was most strongly influenced by comorbid disorders, not tics.) Medications are not curative, but they can suppress tics and make life more tolerable. One needs first to develop maximum symptom tolerance at home and school by using information wisely and dealing with any misunderstandings. The main medications used to treat tics are in 3 categories: (1) neuroleptics such as pimozide (Orap), haloperidol (Haldol), risperidone (Risperdal), aripiprazole (Abilify), and ziprasidone (Geodon); (2) clonidine (Catapres, Dixarit) and -- in the USA, not yet Canada -- guanfacine (Tenex); (3) tetrabenazine (Nitoman). (Recently there has been concern over possibly increased risk of a "metabolic syndrome" and perhaps eventually Type 2 diabetes after long-term treatment with risperidone and possibly other neuroleptics.) One problem with medication needs to be appreciated: because TS fluctuates, it's possible that an improvement after starting a drug might be a coincidence and would have happened anyway. Similarly, an up-surge of tics after some change or event doesn't necessarily indicate that the one caused the other.
Unfortunately, one of the most common parental complaints is that they can get a diagnosis and probably recommendations for treatment, but timely follow-up is difficult or seems impossible. We recognize that there are not enough experienced clinicians to do justice to this need.
Comorbidity. Much of the available information isn't clear about this complicated subject ("comorbidity" means disorders that occur together; actually, it should mean disorders that co-occur more frequently than by chance). For all neurodevelopmental disorders (ADHD, OCD, Learning Disabilities, anxiety and mood disorders, for example), not only TS, there is substantial overlap with other disorders. It's often very hard to refer accurately to your child's multiple problems. We tend to say "he does that because he has TS" because it's easier and much less cumbersome than saying "he does that because he meets current criteria for TS, ADHD, and mild OCD combined with a sleep disorder and a mild expressive language disorder"! Clearly "having" a disorder is a very crude way of explaining anything. These short-cuts of speech, however, lead to the mistaken notion that TS (or another named disorder) is inevitably associated with patterns of behaviour like sleep problems, self-injurious behaviour, anger control problems, and poor social skills. Instead of assuming that a behaviour problem is due to a labelled condition like TS, ask yourself: "could he/she be doing this if he/she didn't have any tics?" -- and the answer often would be "yes." The whole subject of comorbidity has only started to receive the attention it deserves in recent years, and we are finding it increasingly important to assess the people we see for other problems and disorders.
Can a Person "Grow out of" a Disorder? Yes. Development is a dynamic process. Symptoms may completely disappear (and may return) or lessen to the point where the criteria are no longer met. For OCD, for example, the criteria include having the symptoms for at least an hour a day. If they lessen, then you may no longer meet criteria. (You can set up a classification system so that if you once had symptoms, you keep the label, or so that you can lose it.) For TS, it seems that a minority of persons have all tics disappear for a prolonged period, but for many more they diminish to the point where they're not important and not noticed, but some tics are still present.
Why Are So Many Physicians Reluctant to Make the TS Diagnosis? We are pleased that in BC we have reduced the average delay between onset of tics and diagnosis. BUT we are still seeing cases where the doctor adequately describes the pattern of tics, but won't say it's TS. There seem to be several common reasons: (1) They think it's bad news and are reluctant to be the bearer of it; (2) They think you must have a clear 12 months of tics first, even in the presence of multiple tics. You don't! By the time most parents have thought about it, they realize that there were earlier patterns that they didn't think of as tics, so the age at onset decreases and lo! now you have more than 12 months! In any event, one can be very confident that lots of changing tics (even after only a month) are going to be TS, and not totally go away forever. (3) They think that some other pattern, e.g., coprolalia, learning or behavioural problems, is necessary for the diagnosis. (4) They attribute tics to stress or anxiety. (5) They don't see (or hear about), tics that occur at different times, not together. The diagnosis of TS does not depend upon all types of tics being present simultaneously.
Why Do Books Say That You Should Never Give a Stimulant Drug to Someone With Tics/TS? There was an observation on a few cases over 25 years ago that some children with ADHD, given a stimulant like Ritalin or Dexedrine, developed tics. This seemed to confirm some animal research showing that high doses of these drugs brought out stereotyped behaviour. For years after this publication, no one had the nerve to continue treating a person who developed tics, to see what would happen. Then drug companies were sued in the US, claiming that the childrens' TS was caused by the drug. The Scientologists picked this up and (through their "Citizens Commission on Human Rights") started warning people that if their child takes Ritalin, he/she will develop TS. To this day, the warning remains in the US and Canadian drug books, despite much clinical experience and an increasing amount of research that shows this is not usually so. A recent study showed that roughly 22% of children taking any drug (including Ritalin) had an increase of tics temporarily. ADHD normally starts in very early childhood, so when TS followed, it was assumed that the drug was the cause; at that time TS was thought to be very rare, so something external had to be causing it. We use stimulants for concurrent ADHD fairly often, regardless of whether the child has TS, and have been doing so for years. But don't expect to see the warning removed from books any time soon! (Nevertheless, there does seem to be a minority of children whose tics predictable worsen with stimulants on multiple occasions.)
What is the Current Status of 'PANDAS'? This acronym stands for "Pediatric Auto-immune Neuropsychiatric Disorders Associated with Streptococcal infections," quite a mouthful! This theory, in brief, asserts that after infection with a specific kind of strep (Group A beta-hemolytic streptococcus), the body may react by producing antibodies, but because a protein in the coat of the bacterium is very similar to part of the brain, there is "cross-reactivity" in some persons, and the inflammatory process leads to sudden onset of tics, obsessions, etc. This theory is intriguing, though not well established. Treatments based upon this idea may have significant side-effects, and should only be applied within an approved research study. A large multi-site study has been completed and the results have been published in Pediatrics recently, but they are still not definitive. (In our experience children who have a very sudden, abrupt onset of obvious tics do not run a clinical course different from more typical TS children, with conventional treatment.)
Are There Cautions to be Observed with Tic-suppressing Medications? Yes. First, we are now following recent guidelines that indicate we should consider obtaining a baseline electrocardiogram ("ECG" or "EKG") (if they never had one) on patients who will receive neuroleptic drugs (haloperidol/Haldol, pimozide/Orap, risperidone/Risperdal). This is to rule out a very rare inherited problem in the heart's electrical conduction system called the "long QT syndrome." (I have only seen one case in all my years here.) This test just takes a few minutes in your local laboratory and can be ordered by your family physician. We do not routinely obtain another ECG when the dosage of these drugs is changed (although this is recomended in the USA). Secondly, certain drugs should be avoided when taking pimozide/Orap, notably among them the "macrolide" antibiotics erythromycin (many brand names), clarithromycin, and Biaxin, and large amounts of grapefruit juice. Ordinarily any dangerous drug interactions should be caught by the PharmaNet computer at your pharmacy, but I know of one instance where it was not. This situation may arise when your family physician or pediatrician prescribes one of these antibiotics without awareness of the potential interaction. Another warning: clonidine (Catapres/Dixarit) is a drug introduced for high blood pressure that is also used for tics and ADHD. It usually causes no low blood pressure problems in persons with normal blood pressure, but it should not be discontinued suddenly because of a risk of sudden rebound (high blood pressure when the drug's influence is removed). It should be tapered slowly over a period of days to weeks, depending upon dosage. (In general, it's a good idea to taper all of the drugs we use when discontinuing them, unless the dosage level is already very low.)
How Common is Onset of Tics Before Age 4 Years?From our international TIC database (now containing data on about 8,000 persons with TS) we know that 12% of cases begin before age 4, a few as young as 1-2 years.
How Common Are Reports of Sudden or "Abrupt" Onset of Tics?Again, from the database, about 5% of cases are reported with this description -- of course what is "sudden" to one parent or clinician will not always be the same.
What is the Average Delay in Diagnosis?From our TIC database, our Clinic's average delay is 3.4 years from onset of tics to diagnosis; this is the next-to-shortest of our 81 sites; the longest reported delay is 18 years at an adult clinic. In general (and not surprisingly) clinics seeing adults report much longer delays in diagnosis than those seeing children.
Are School Learning Problems Common? No type of specific learning problem has been fully agreed upon, though you may read various claims. About 25% of children in our database are reported to have some learning problem. The nature of these problems varies and may change over time: it could be due to efforts to suppress tics in school, to ADHD or OCD symptoms, to medication side-effects, to sleep problems, and so on. Each person must be individually assessed. Psychological or psychoeducational testing is often helpful (but not always readily available, now that clinic and school-based services have endured cut-backs). There is no doubt that feeling a failure in school can be a major cause of misery for the child, family, and often the teacher, but one should avoid assuming that any one factor operates generally in children with TS. We recently published a paper on this subject: Burd L, Freeman RD, Klug MG, Kerbeshian J. “Tourette syndrome and learning disabilities.” BMC Pediatrics 2005; 5: 34.
How Can One Deal with Outrageous or Dangerous Behaviour that Seems to be Tic or OCD-related? This is a frequent but difficult question to cover in a brief paragraph. If a behaviour is dangerous or highly disturbing, we think it best to treat it in a common-sense way (at least at first). Do not assume that there is absolutely no control within the child, and no response to consequences or to what went before. Otherwise you feel de-skilled and helpless. Some behaviours must be forbidden or reacted to, regardless of theories about causation or children's complaints of unfairness. (Lots of time can be wasted trying to be absolutely certain that unacceptable behaviour is - or isn't - totally involuntary.)
Other Repetitive Behaviours. All that repeats needn't be a tic! We are starting to see children who may have one or two tics, but the other features needed for a diagnosis (2 or more motor, one or more vocal) are met by including a repetitive behaviour such as nail-biting, spitting, lip-licking, chewing things, smelling things, or hair-twirling. Let's be clear: sometimes you can't be sure, but why can't a person with tics have other patterns that non-Touretters perform? One difficulty is that we have poor information on how common these patterns are (and we all do something sometimes). From our data on repetitive behaviours in over 650 persons with TS, it seems that if you have a high number of repetitive non-tic behaviours (more than 4) you are more likely to have coprolalia or copropraxia at some time (the reasons for this association are still unclear).
Sexualized Behaviours. This is a tricky subject. Some children or adolescents will show behaviour that looks sexual, and nowadays someone is likely to assume that there was sexual abuse or molestation as the basis for this. However, this is not necessarily so! Tics can take this form without any interference from outside, but this may require expert assessment.
Stereotypic Movement Disorder can be confused with tics and TS. SMD is an official DSM-IV diagnosis, but it's rarely made. There are only 3 case series of children published (Tan et al., 1998; Mahone et al., 2004; Harris et al., 2008). Repetitive movements usually start before age 2, and consist of intense patterns (like hand-flapping, pacing, running, bouncing, with or without vocalizations and facial grimacing) in longer runs than tics (can be up to 10-30 minutes). This can be stimulated by excitement, active imagination, or less often boredom. When older, they often say they like it, it's fun, they have to do it before they do something else, and that it stimulates their fantasies, yet they can usually be easily called out of it. (Children with tics do not say they like them.) It may look quite odd. The children typically shape their patterns later so that the movements are done in private or within the family. The main problem is that if you're not familiar with it, you or someone else is likely to think it's a symptom of an autistic spectrum disorder [ASD] or Tourette's. Even children who flap but are functioning well socially are often unreasonably suspected of ASD by teachers and others. The pattern itself can look indistinguishable from stereotyped behaviour in ASD, but is much more prolonged than tics. Comorbidity (other disorders) are common, including tics, just to confuse everyone... Usually no treatment is indicated. A videotape of the pattern is very helpful for diagnosis. We are following over 55 cases and have recently published on this important subject: Freeman RD, Soltanifar A, Baer S (2010) Stereotypic movement disorder: easily missed. Developmental Medicine & Child Neurology 52:733-738. Through this blog we have already found over 25 others, all over the world!
A request: If anyone has a comment on the following question, please e-mail me. "Before you got the official diagnosis, what would have been most helpful for your family physician or specialist to have done?" (I am collecting this information in order to improve physician education.)