UPMC Physician Resources
Tourette Syndrome: Case Dissection
Dr. Robyn Filipink provides a brief overview of the diagnostic criteria for Tourette syndrome and to learn how to differentiate tics from hyperkinetic movements.
Upon completion of this activity, participants should be able to:
- Recognize the new diagnostic criteria for Tourette Syndrome as described by the DSMV
- Describe and learn to differentiate tics from other hyperkinetic movements
- Recognize the most commonly associated symptom typically seen in children with Tourette Syndrome and how to plan for treatment in the context of tic management
- Tourette Syndrome Deep Brain Stimulation: A Review and Updated Recommendations: Schrock, LE; Minn, JW; Woods, DN. Movement Disorders, Dec. 201
- A Review and Update on Tourette Syndrome: Where is the Field Headed? Gunduz A., Okun MS. Curr Neurol Neurosci Rep 2016
- Behavior therapy for tics in children: acute and long-term effects on psychiatric and psychosocial functioning. Woods DW et al. J Child Neurol 2011 Jul; 26(7) 858-65
Dr. Filipink has reported no relevant relationships with proprietary entities producing health care goods or services.
All presenters disclosure of relevant financial relationships with any proprietary entity producing, marketing, re-selling, or distributing health care goods or services, used on, or consumed by, patients is listed above. No other planners, members of the planning committee, speakers, presenters, authors, content reviewers and/or anyone else in a position to control the content of this education activity have relevant financial relationships to disclose.
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Release Date: 10/31/2016 | Last Modified On: 10/31/2016 | Expires: 10/31/2017
Thank you for that introduction and good morning, good morning to this wet day. It is really my great pleasure and privilege to present Grand Rounds today, Tourette Syndrome: A Case Dissection. A little more than 10 years ago I started my neurodevelopment training and at that exact time we started the Tourette Clinic under the direction of Dr. Paner. And from all of those years I have learned a great deal from my patients, their families and the right to share that information with you guys today. I have no disclosures for our talk today.
And there are some talking points today I would like you guys to come away with from this talk that will really help you learn a little bit more about Tourette syndrome and tics. First of all I like to review the diagnostic criteria to make a Tourette syndrome diagnosis as described now by the new DSM V. I would like to help you identify tics in the great spectrum of hyperkinetic movements and how to identify specifically that we are dealing with a tic. And then a greater point to this is to understand the associated symptoms that we see in children with Tourette syndrome and how to plan that treatment keeping in mind that we are also trying to treat and address tics. And I'm going to facilitate this learning by case studies to help exemplify how to really use this information in a clinical application.
So let's start with our first case. So into the clinic comes a 4 year old male just about to start kindergarten, and the parents come in with the main complaint of excessive eye blinking. Past medical history is really unremarkable, normal birth, normal developmental history, possible seasonal allergies for which he's been placed on Claritin recently. And the most recent evaluation was with ophthalmology finding an absolutely normal exam. And the reason I want to highlight some things from this case is a 4 year old, very common age when we see tics, so the end of preschool to the beginning of kindergarten, so 4 years, 5 years is a very typical age that we see a presentation. But also the part about the allergies and ophthalmology, many times we'll see a child who comes in for an evaluation of tics and they've seen many specialists before myself, being ophthalmology, allergy, immunology, hormonology and ophthalmology and the evaluation for excessive eye movements. Is it an eye issue? Is it dry eyes? Is the throat clearing an allergy? Is it postnasal drip? Is this asthma? So many times we'll see children have seen many other specialists before they come to see me. And even sometimes we'll see that children go through tonsillectomy and adenoidectomies, after the surgery they still have the exact same symptoms of throat clearing, sniffing. So many times parents are coming to us after a number of evaluations. At home he lives with parents and his sister and he's about to start school, so we are talking about August that they come and see us. And the family history we are going to wait on that one because we are going to address that in a little bit more into the talk.
So the exam, well we do see the excessive eye blinking that the parents were talking about. The child is awake and alert and a really nonfocal neurologic exam. And this is what I'm going to highlight throughout my talk when we are talking about the different case studies that it's a normal neurologic exam. If you don't have a normal neurologic exam you can't say it's tics. So that's what we are focusing on here, normal neurologic exam. And really what are we dealing with? This is what we want to know. The patient comes in with excessive eye blinking what's in our differential diagnosis? Well it could be tics, so recurrent movement could be tics. Is it an eye irritant, seizures? That's a big question if something is recurrent there is always a worry for seizures. Or this something more behavioral? Is this something that the child is doing to get attention which many times parents come with that question.
So let's look at hyperkinetic movements, and hyperkinetic movements are a great spectrum, all the way from tremors which are your fastest recurrent movements but those are rhythmic, that's the big key for tremor. It can be any part of the body, but it's a rhythmic fast movement. Then we have tics more intermittent, stereotypic movements but not rhythmic. Then all the way to chorea which is more like dance-like movements. It's pretty obvious when you see chorea that's bringing you to a neurologist, so a very different movement. And then dystonia is a twisted, fixed posture for a short duration of a part of a body. So in all of the hyperkinetic movements tics are sitting kind of in the middle of that.
Now the real differential that we come down to which is pretty much between these two tics and stereotypies. Once we've ruled out oh this is not chorea, doesn't like dystonia, this doesn't look like a tremor, now we come to is it tics, is it stereotypies and sometimes it's a combination of the two, and sometimes it's very, very difficult to figure those two out. So a tic is a recurrent common movement that your body does throughout the day. So eye blinking, we all eye blink, we eye roll, we facial grimace. So tics are a repetitive movement of a common movement that is noticeable because it's too - it's produced too many times throughout the day. It can also occur with vocalizations. And the big point about tics is they are brief, they are quick. If you have someone who is doing a lot of rolling of their body and it's taking couple of seconds to complete this movement then it's not a tic, tics are quick. Even the vocalizations are pretty quick vocalizations and they are done. They may cluster but the specific tic itself is very quick; however it can be complex and we'll talk about that.
And if the child is old enough you may be able to find a degree of suppressibility. Can you hold it in? If you are going to church can you hold that movement in? And most kids by the age of 7 will be able to say oh yeah, I can hold it in. Sometimes you'll see that in the appointment when the parents say I swear they are doing eye blinking, and you see the child and there is no tics. And it's not that we don't believe them, it's just the child usually can just hold it in for that period of time. The other point that you may get from the history of suppressibility is as soon as they get home from school, they've been all the day the teachers haven't seen tics but as soon as they get home, off the school bus there is a ramp, they see a great release of tics. And that means that they are holding them in throughout the day, which points to suppressibility.
So what we are looking for in the history again if they are old enough is can they have a little bit of control. These are involuntary movements with some bit of voluntary control. The truth is for tics they increase when you are nervous, when you are excited. They also can come out when you are just watching TV with the family, but many times can be brought on by emotionality, especially video games, kids are very into video games and they are playing online and they get emotionally invested and you can really see tics increase.
Now stereotypies whether they are with an ASD or not are usually more of what I seem to think of are flourishes of exaggerated movements. Throughout the day we usually don't hand flap, but this is what a stereotypy is, it's an extra movement that's a flourish, it's more of a dramatic movement, hand flapping, swirling in circles. They can be brief, they can be long, they can be a couple of minutes long with some patients. And usually the biggest trigger is excitement. So if you see a young child, preschool or younger, and the parents are like they always do this movement as soon as they get excited, you just show them something, a flashing toy and you'll see them go right to the stereotypy. You can bring it on, it's almost - it's pretty automatic. When they get older that's a little hard, but usually the biggest trigger for stereotypies is excitement, for tics it tends to be more anxiety. So that's a good way to differentiate between tics and stereotypies, and sometimes they'll have both. And the reason that we want to try to differentiate that is tics we have treatment approaches, stereotypies for the most part we don't. So we want to set the parents goals if we can identify between those two.
So really going back to tics, so it's a sudden involuntary very rapid, remember this is a very brief movement, nonrhythmic stereotypic movement, which means you can ask the patient show me what it's like? Or the parent, what does it look like? Demonstrate it to me. Because it's stereotypic they know what it looks like, they know what it sounds like and they can show you. You want to look for the suppressibility.
And the next very important part of this is premonitory urge. If the child is old enough, and sometimes these kids are pretty insightful and mature and they can even tell you around you 4 or 5, but usually by 7 they are going to be able to identify a premonitory urge. And what is that? Well it's more of what we call a sensation. So they feel a buildup, they feel there is something in their eye and they have to eye blink. They feel something is in their throat and they have to throat clear. Different from what we think of a compulsion where they have a buildup of a feeling they have to do something and it feels only better after they produce the activity.
And parents will say well you know how do I know what this feels like? And this is a great thing that you can use for someone to get an understanding of what a tic is. It's like you have to sneeze and the sneeze is building up, building up, and how uncomfortable is that? And what a relief after you sneeze. And so many kids will say that's what it's like, it's like having to sneeze and you don't feel better until it's released. And that's what this premonitory urge is. This is really important to help identify because this will be a key component when they think about therapy which is an intervention for tics. So we really want to figure out is there suppressibility, is there a premonitory urge to help us with the identification of tics.
Now what are tics? Well most tics will be produced from the shoulders up. So the most obvious tics are ones that occur in the face, those are the ones that we can all see., eye blinking, eye rolling, tongue protrusion, facial grimacing, snapping, squinting. Upper body, flipping of the hair, so this one was a big one during the Justin Bieber time when he had long hair because people said my child is constantly flipping their hair. Exactly, he demonstrated that perfectly. And so what would happen is then the parents would have the child get their hair cut, and they kept doing the movement and they are like oh my gosh, it won't stop, it's not the hair. And in the end this was really a tic. So get the hair cut, the movement is still there it was a tic. So heard turning, snapping of the neck like a whiplash tic and this one can actually cause some discomfort as well as eye blinking can cause some headaches. But for the most part tics do not cause discomfort.
You can - these are a little more rare but you can get these in this history, tensing of muscles, and this can even lead to micturition, so sometimes you can have a little bit of urine being expelled if they are tensing their abdominal muscles. Then it can even go into the extremities, drumming of the feet, drumming of the hands, flapping sometimes, more the extremities I look for because I want to make sure there is not a compulsive part to these movements. Are they counting when they are tapping or they are moving.
And then there's the complex tics, these are the ones that are the most obvious, these are the ones that are most bothersome to families because when you go out in public these are the ones that are pretty noticeable. So they can do facial contortions, but it can be an eye blink followed by a facial grimace followed by a head turn followed by a noise. So it can be quite complex, but each individual tic is pretty quick in itself.
And then there is something called blocking tics and a block tic is when someone suddenly stops, so they are walking and they stop. And sometimes people are concerned these may be seizures because suddenly there is a stoppage and they are kind of staring off, but that isn't a tic in itself and you can ask the child and they are like I had to stop.
So vocal tics, these are the ones that many times are seen as you know is this allergies, does this relate something to asthma. So sniffing, coughing, grunting, but it's that same sniff that keeps occurring despite the allergy season ending. It's year round, you know they have a cold which brings out a repetitive cough, their cold is gone and they just keep coughing. So we look for simple vocal tics. These are the ones you can ask the parent what's the noise they make? Again it's stereotypic so they can keep reproducing it for you.
And then complex vocal tics are repeating someone's words and they are not autistic. Palilalia is repeating their own words, and this one you will only get if you ask the child do you repeat your won words? And they do that real quick. The child knows what I'm talking about and is doing palilalia they will go yes. And then the parents don't know this is happening because the child is doing this inside their head, and they get all upset because they never knew about this tic. If the child goes what then they don't have palilalia. So this is one that I just quickly will ask for.
And then the rare tics, these are the ones that parents are most concerned about, most worried about, the last one on our list. But copropraxia is repetitive obscene or vulgar gestures. Coprolalia on the bottom is what parents fear the most is my child going to repetitively swear or say a racial comment in front of other people? This is extremely rare, we only have a couple of patients that have coprolalia and this tends to be a much more difficult tic to treat. Paligraphia is repeating letters and words and constantly writing them and echopraxia can really get a child in trouble. So they mimic exactly what you are doing, so other kids or teachers will think the child is really a behavioral child when they just mimicking me but it's really their tic.
So let's go back to our case. So we are going to diagnose him with new onset motor tic, it's eye blinking, it fits in the category of motor tic. It's not really bothering him so we are going to recommend observation. And then the next most important point is with little kids I always tell patients don't pay attention to them, the more you point out the tic that's really not bothering the child the more they get anxious that you are watching them and then the tics increase just by natural history of what's occurring in the family. But now the parents ask, will he outgrow this? Will it turn into Tourette's syndrome? Well the answer is going to be time is going to tell and we are going to look to family history and associated symptoms to help us make that prediction.
And then let's go to our next case. So now we have a 10 year old who comes in after a baseball game and sports is a big time when parents will notice onset of tics because they are waiting in the field, they are waiting on the basketball court when the sport is not occurring right with that child and they have the ball the parents will see the tics because they are out in front of everyone. And so the parents give the history oh for the last 4 years, so around 6, again around kindergarten he started having recurrent noises and these movements. Normal birth, developmental history, which is usually the case. Recent well child visit was normal, lives with parents and siblings. Fourth grade and the notable part straight A student. So this is something you are going to see recurrent through these cases, the case presentations, a straight A student. So a lot of our Tourette patients and tic patients are straight A, very, very smart kids.
Family history, well this is going to give us a little bit more information, brother has ADD, sister is anxious and if you look hard enough paternal grandfather is a sniffer, so he sniffs a lot. And what we really want to know about this is family history. And sometimes during the first appointment parents will say no, no tics at all in our family. By the second or third appointment they are going to be like oh my gosh I remember my grandfather would do this thing over and over and over. So sometimes parents have to go back, think about it; but most of the time you are going to get a family history on either side of someone with something that's recurrent and that they still remember.
So the exam, well we see the excessive eye blinking, some sniffing, jaw opening, alert, awake and again the key here a nonfocal neurologic exam. So what's really in the differential? Is this tics, has this graduated to Tourette's syndrome? Let's see. So what do we know? Well the DSM V is helping us classify tics into more specific and a little bit of different terminology. So when we talk about Tourette syndrome, persistent motor or vocal tic disorder and provisional tic disorder. So these are the three main categories that we are going to use to help diagnose someone who comes in with tics.
So Tourette syndrome not much has changed in the DSM V except you just need 2 or more motor plus a vocal, both of those together, you need motor and vocal for more than a year, onsets before the age of 18 and there is no other medical explanation for this, there is no other underlying medical issue. That's it. It's a clinical diagnosis. And some parents think that there is blood work or that there is brain imaging, it isn't, it's all clinically based. So your history and what you see in the clinical appointment really is going to help you. So it's a very straightforward diagnosis.
Now persistent motor or vocal tic disorder, this is what we used to call chronic tics, this is either a motor or vocal tic present for more than one year, started before the age of 18, is not explained by another medical condition. That's it, that's all you need. This is very rare, so this occurs once in a while and you really have to ask the family history, are you sure there is no vocal tics? But once in a while you will see a patient with just totally all motor or just all vocal tics, but not very common because usually there is going to be a combination there.
And then provisional tic disorder, these are the kids, this is our first patient that came in, they have either motor and/or vocal tics and it's less than a year, that's it, that's the only thing. So the new onset that occurs right before kindergarten, this is where they hit in provisional tic disorder started before the age of 18, not accounted by another medical issue, not diagnosed with Tourette syndrome or persistent motor or vocal tic.
So those are the three categories that we fit our patients in. So where does our second patient fit? Tourette syndrome based on the duration and the types of tics that they present with. That's how we make the diagnosis, a clear clinical diagnosis. So tics are not really bothering the patient, we are diagnosing Tourette syndrome, we are going to recommend observation, minimal attention to the tic but the parents ask is he going to outgrow this? A major big question you know, how long are they going to be living with this? Well the answer again is going to be time is going to tell. Well we look to family history associated symptoms, so let's look a little bit more at those answers.
So how common are tics? Well this is really difficult to describe because many kids with tics don't come to medical attention, the family just watches it, it goes away or it's very minimal. If they come to see neurology it's either because they have more obvious or significant tics or they have really anxious parents, which tends to be more of the case. But more of a recent study looked at about .3 to .9% of children will have Tourette syndrome. One in 360 was looked at another study, which was about the same. And maybe about 1% of the population has Tourette syndrome. Male to female ratio, males much more affected than females, and that's what I'm going to show in our case presentation. So about 3 to 4 versus 1 female will have it. So most of the patients that present will be males.
I love this figure because this absolutely represents what I've seen over the last 10 plus years in my experience with children with tics and Tourette syndrome, so let's look at this. So the X axis looks at the age of the patient from 0 to 20 and symptom severity breaking it down in Tourette syndrome, comorbidities of ADHD and OCD. And usually first presentation is around 5 years of age usually with a motor tic, but sometimes you look back and around 3 the parents noted a very brief period of a vocal tic then a motor tic and then more noticeable vocal tics come on a little bit later like first, second, third grade.
Tics may wax and wane and the most important part to know about that is they are waxing and waning along with the school year. So the beginning of school, September, August is when tics usually increase then the holidays. Holidays for tics with kids and food, Halloween all the way up the first of the new year we see an increase in tics. And then this time is much better, so getting to the summer, ending school is a great time for kids with tics, all the excitement and nervousness of school is gone other than the caveat of April when there is PSSAs, that's another bump up because of the nervousness of the PSSAs. But tics will wax and wane throughout the years until just about puberty and from my experience I always tell patients around 11 for most boys, before they hit puberty is when we may see the tic exacerbation come out. And this is not acute tic exacerbation this is just from their baseline we can see an increase. Not all kids will do this but around 11. And then these authors looked at it, they estimated about 10.9 so we are both around the same time.
And then what we are really looking at in this figure is by the age of 20 what happens? And I tell most patients that by the end of the teen years about 75% of kids will outgrow tics. They may have a little tic when they get nervous but for the most part it will substantially get better when they are going to college. Well that's a really hard thing to tell someone that is coming in with a 5 year old, hey it's a childhood disorder but guess what you are going to have this until you go to college. But by 15 is when we really see tics get better and I want to highlight that later on here when I see a 15 year old boy, by that time usually tics are much better. So between 11 and 15 they can see an increase, after that time, high school it's really, really much better. And so I do agree with the authors so about 15 to 20% will continue to have tics into adulthood, sometimes the severity increases into adulthood. But this is a good slide that kind of sums up the history, the natural history that I usually describe with parents.
So what is the prognosis? Looking at if a study looked at this, well they followed kids over time and around 18 years of age they said go back about a week and tell me how were your tics? About 50% said they were totally tic free and the ones who said they had more moderate to severe tics were 11%, so this really kind of fits into what we've all been seeing.
Genetic studies? Well this is where we look into family history. We really think this is autosomal dominant and most times again there is a family history of either anxiety and/or tics. And sometimes parents don't know their family history. Sometimes these were family members who were never seen by doctors, they kind of had this little habit but no one really diagnosed it. But I really look to this, what is the family history. And when the child is old enough I'll tell them well you know if you are ever going to have kids maybe this may be passed on to your kids, but you'll be the best parent because you'll identify it early and you'll be the best parent to help your child through it. But this absolutely is genetic. And about 80% will have a cooccurring mental illness or neurodevelopmental condition. That's a big part of Tourette syndrome as we'll talk about.
So we see them 6 months later, they usually have every 6 month appointments, and he's now bothered by his tics. And I want you to pay attention to these next 3 points. Eye blinking causes some headache, peers are starting to comment on his tics but really it's not disrupting his activities. Exam shows motor and vocal tics, normal neurologic exam, again nonvocal neurologic exam means we can consider tics. So the parents ask how do we help this? How are we going to address these tics?
So to understand that let's try to understand a little bit of where tics come from, the pathophysiology. So if we look at the neurophysiology we haven't got a perfect answer but we have people who are investigating this. And so we think everything goes to the corticostriatal-thalamocortical circuits,. So we are looking at the cortex, the striatum including the globus pallidus, which is major motor, middle of the brain. and the thalamus and the connections through that. So the circuitry of A on the left is really the normal circuitry that we have for movements, including excitatory and inhibitory connections. So it has been suggested by Dr. Mink and Albin is that there is a aberrant focus that is changing the direct pathway into the globus pallidus which is really decreasing the inhibitory input to the thalamus which increases the excitatory output to and input to the cerebral cortex which is producing the involuntary tics. How you describe this to parents is the circuitry within the motor system of the brain you are born with a predisposition to it, it comes out around 4 to 5 years of age and by the time they are matured to adulthood this aberrant focus has changed.
So let's look at the neurochemistry. Well in the old days preceding when I started training, Haldol was very much used. Everyone thought this was dopamine, let's block dopamine. Tics improved and really Haldol can work quite well but it causes a lot of sedation, causes weight gain and parents didn't want their child to be on Haldol so that's really fallen out of favor. But we've really looked at other medications and how they've affected tics. And then we come to learn well maybe all of these neurotransmitters are involved going all the way from dopamine from gaba to norepinephrine. Then what medications you use tell you want kind of neurotransmitters may be involved and vice-versa. What neurotransmitters might be involved let's try those medications to see if that really will change tics. So treatment is recommended when there is certain criteria. And I usually will use these 3 and describe this to parents. So if the tics are causing physical pain or discomfort for our patient, remember eye blinking was leading to some headaches. Getting in the way of activities? No, this was not affecting him, so he didn't have any changes in school performance or peer interactions. And was this really starting to cause some social issues? Peers were starting to notice some things. So 2 out of the 3, so it now hits, then I try to draw parents' attentions to this. Well maybe this is something that we need to treat.
So every tic that walks through the door you do not have to treat, only if you are meeting some of these criteria, and then the two little ones that I add is if the kid looks at you and they are like make these tics go away and that's heartbreaking, and no parent is going to say no to their child when they want their tics to stop. And then the last one is really a hard one, when the parents are so anxious and they worry what if, I'm going to start treatment now so no one will ever look at my child differently. And that's one that I will not treat because you don't have to treat a tic, you can live your whole life with tics. By the time of 18 you are going to outgrow your tics. It doesn't matter what treatment or when you start it you are not going to change that outcome. So it's really how much you can live with your tics and how are they bothering you. And if it's bothering the parent but not the child I'm not going to treat that. Parents have to understand that. if that's the case then I suggest parents have to go see someone to treat their anxiety or their worries or fears, because we don't want to treat that. And that sometimes can be a big issue. So you have to know your goals, you have to be realistic. There is no cure to your tic, and I'm upfront with that with parents. I can help decrease frequency and severity but there is no cure other than time, and that's why the answer for the first two parents really is time. Time is going to tell us what's going to happen here. And you always want to promote home as safe zone, and that can be really difficult because tics can be annoying. It can be annoying to siblings, to the family but when you are home, when the kid is home just let them be. If they are going to have their tics they are going to have them, it's just what they involuntarily will do. But we want them to have a safe zone, they don't have to feel ashamed and go to their room to have their tics, this is just part of them.
And then education can go a long way, parents talking to teachers, anyone - any of their friends, just educating. And we've really been doing this, we have a strong parent association for Tourette syndrome in our area and they've really gone extra steps to educate. And many schools now understand Tourette, they help develop 504 plans or IEPs and we have strong advocacy. So hopefully we've really been changing this part.
So tic treatment, well it's broken down into two forks, medication and therapy as with a lot of different disorders. And we are going to focus on medication first. So you have to understand a family's comfort level, this is with anything in medicine, especially tics. Is the family a medicine family or not a medicine family? And even if they are I never want to consider medicine I say just stay with me I'm going to tell you what the options are so in case tics do increase you may get to this point that you want to consider it. There is an alternative approach and the only one that I recommend is magnesium oxide and vitamin B6. People will sell vitamins and certain diets and there is some orthotics group, orthodontics group that sells some like I don’t know some brace that you put into a child, it's like $10,000 or more and they claim it helps tics. Don't ask me how that would work. But people can really get sold on these things, but the only natural and alternative approach that I recommend is magnesium oxide, and we use it a lot in neurology. The only down side of magnesium is GI upset or diarrhea, if you get that you decrease the dose.
But this combination was studied in Spain a few years ago and thought to be very effective. It was nonrandomized, the children who were placed in it were at when their tics were peaked, so you have to think about those results. But I've been using it for the past about 4 years and about 20% of families will say it works. And those that say it works swear it works, and if they miss a magnesium dose well the tics increase. Don't ask me how that happens, but that's what they say. And then 80% of that you know I tried it for 6 to 8 weeks, didn’t see a big difference. But this is a great combination if a child has headaches and tics let's try a natural approach. So I'm all for this, I don't think there is a down side to that.
And I want to always describe the tiered approaches, which I'll discuss with you guys. So if we miss one or one isn't working we have the next tiered approach, so don't give up hope, we have a number of medications that we can use. And the biggest part is at the bottom is teens, so many times teens have been living with their tics for 5, 7 sometimes 10 years and at some point they are like no, I still have tics, I don't want to take a medicine every day. That is absolutely fine, again it's where the child and family is for medicine, but just tell me. If you are on medicine I want to wean you off, but a lot of times teens reach a point where they are like I don’t want to be on medication anymore.
So the first tired approach that we have is our alpha adrenergic agonists, Clonidine and Tenex. The side effects of both can be drowsiness, hypotension which I don’t see a lot, I don't see that at all really, we have lower doses and we can monitor if we have to. Nausea, vomiting, constipation very minimal, I just usually don't see that. I prefer to use Clonidine when a child has difficulty falling asleep at night either because they have a lot of tics, they are ADHD and can't wind down, or they are anxious children so I use Clonidine. I usually don't use Clonidine during the day because they fall asleep in school. This is also a good use if they happen to have ADHD because it could help somewhat with those symptoms.
What you'll see when we go through dosing is in Tourette treatment this is a pretty common dose, so the Clonidine tablets .1 mg, I start with 1/2 a table, go up to 1 or more based on effectiveness with a max dose of .4 or 4 tablets. Tenex I use when there is more difficulty falling asleep or Clonidine is helping at night and I'm going to use Tenex during the day. I can use it up to 2 to 3 times a day, the dosing of the tablet is 1 mg, I start with 1/2 a tablet, go to 1 table to or more based on effectiveness with a max of 4. So as you can see half a tablet to 1, max dose of 4, we have a very common pathway. And this is really good also if they happen to have ADHD symptoms or the parents don't want to try ADHD medicine, Tenex is a good combo for treating tics and ADHD. The long acting form of Guanfacine is (inaudible) and that's really sold as an adjunct ADHD medicine. And this sometimes can help with emotionality.
So our second tier, a few years ago they started looking at the antiepileptic medications. The two that I'm going to focus on are Topamax and Keppra, and Topamax actually works quite well. Most patients don't go past Tenex and Clonidine so most patients if they have to be treated with a medication are in Clonidine or Tenex and we manipulate that. But if we have to go on Topamax is the next choice, however there is more side effects. And with anxious families and anxious kids the more side effects you read off the more nervous they get, so sometimes you have to separate the child from the parent. So paresthesias of fingers and toes, sleep disruption, there is an increased risk of kidney stones, you have to look for the family history there, decreased sweating, glaucoma and with high doses which we usually never get to you can have the slurred speech and thinking issues. Topamax is a 25 mg tablet, a lot of times I'll start with 1/2 a tablet, go up to a full tablet and increase for effectiveness. This is good for kids who might have associated behavior issues, so sometimes it can help with behaviors. If they have headaches or migraines great option after magnesium if you don't want to consider that. And if the child is overweight this may be a great option also to help with. But Topamax can actually work quite well.
Keppra, well this is - I usually don’t use Keppra because most kids as we've found in the other studies a high percentage, almost 90% of kids with Tourette syndrome will have an associated behavioral issue. So Keppra's main side effects are behavioral issues, so that's where the combination doesn't work. However Keppra can be very good if you have a child with a complicated medical history and they are on a number of medications, Keppra won't interact with other medications, so that's where Keppra can come in. So if you have a child who is a transplant child and is on a ton of medication Keppra is a great choice, it won't interact. But it can have side effects which you have to watch, but for the most part we use Topamax over Keppra. And Keppra dosing, like seizure dosing, we increase at 10 per kilo and go up for effectiveness. And again we don't use this if there are any associated behavioral issues.
And then our third, what's our third tier? What's that last one that we are going to reach for? And that's Orap or Pimozide, just like Haldol but a little more of a specific dopamine antagonist medicine. But there are side effects. Weight gain is a big one, and we can see weight gain. And sometimes it's 5, 10 pounds, sometimes it's more than that. They are at risk for dystonic reactions and tardive dyskinesia and I'll check an EKG before starting so we can look for any potential side effect of arrhythmia. And dosing? Well like the other ones we can start at .5 and go up at a max dose of 4. This is for good for severe tics, so if someone is on Orap you know they are a pretty high severity of their tics. And really this can also be used if they are having aggressive behaviors but you have to cautiously use this with ADHD medicine. /So you may be a little bit limited into this use.
Risperdal mainly is used more by my colleagues in psychiatry than myself. Risperdal you have to watch also for metabolic syndrome but it can really help if the child tends to be aggressive. Again weight gain can be an issue. And dosing .5 go to a max of 4 and it's used more for severe tics and you just have to frequently, about every 6 months, check metabolic labs.
So the tiered approach starts at Clonidine and Tenex, I'll talk about Klonopin in a minute. Then our antiepileptic medications Topamax and Keppra, then Orap is the next medication from that.
So let's switch a little bit over to therapy, and therapy has really come into favor over the last number of years, and therapy can be incredibly, incredibly effective. And I really try to promote both of these and if parents don’t want to do medication I try especially if the child has to be treated I try to really promote therapy. So cognitive behavioral therapy is really psychotherapy based on the idea that our thoughts can help influence our feelings and our behaviors. It's brief time limited, about 6 to 8 weeks is the duration. It requires homework, so you can only use therapy if the child's bothered by their tic. So summertime is usually not the best time to go to therapy because your tics are low, you are not bothered by your tic. You have to have a tic that's bothersome and you are going to work on using your therapy. And ti's really limited by the age. With a 4 year old you are like well let's consider therapy, it's not going to be as effective as a 10 or a 12 year old. So you have to know the age of the patient.
And there is a specific therapy called CBIT or Comprehensive Behavioral Intervention for Tics, which is really training through the Tourette Syndrome Association for this specific therapy. We have a wonderful therapist here at Children's, we are very happy to have her, Corinne Scot Degnon, and we have about 3 other therapists in our area up to Philadelphia. So we have about 4 therapists that do CBIT So we really try to promote families to go there and even though they may travel, we have patients who will travel 2 or 3 hours per way to come to Children's just for this therapy because it can be effective. They have setup websites or webinars to teach parents this therapy because it's actually pretty obvious therapy, what I'll talk about in a second, but this can really go a long way and it's very important and this can be very effective.
So it's based on habit reversal therapy. So if you go back to the patient when we were talking about tics you know what makes a tic it is that premonitory urge, that's what I want to come back to, that part of this therapy is tic awareness. They have to be aware of their tic and that feeling or urge before they produce the tic. And this is how it works. So you feel your tic is coming on, you feel that grit is in your eye, which is just the premonitory urge, and then you do something in a competing response which is opposite of that tic. So you stay for 5 seconds instead of blinking. So if you introduce a voluntary action you can try to abort that involuntary movement. And the most incredible thing is when a patient does this and it works for the first time, it is incredible and they believe that they can help control their tics and there is nothing better than helping a child's confidence and self esteem and putting that back into them.
And this can really work. And I have seen these kids come back from therapy and be like oh my gosh I know exactly what to do, when I get a new tic I can figure out my competing response. and these kids, these Tourette kids are again straight A students, usually they are really smart and they can really get into this. And then there is nothing better than seeing a child be self-empowered. And then parent training goes along with it, so they can practice their tics. And it may be their tics are under control and they have to go back to the therapist for a tune-up session but this can really work well. And don’t take my word for it. When we looked at you know how effective is CBIT and they compared CBIT to controlled treatment they found that about 50% of the kids really had significant improvement whereas 20% in the control.
But how does it last? Well it endures over time. So when they looked at 6 months after the 10 week CBIT trial they saw that 87% still thought there was benefit. So it can last in time. So you entered your 6 to 10 weeks treatment, it can last for the next 6 months, especially if the child is using it.
And really what can it affect? Well after the 6 months this study really looked at what else increased, anxiety, disruptive behaviors, family functioning improved. So not only does it affect tics but it can help all of those other parts that affect that child. So that's pretty good power.
So what happens when medications and therapies do not work? These are the severe kids, these are the 5% of the population that you will see, and that's when we really consider something called DBs, or Deep Brain Stimulation. So we are talking about not doing anything, maybe some medications and therapy and now the very severe end is something going to be implanted into the brain. And we'll go over why you would consider this. But this is pretty significant, it's been tried in different centers throughout the world and I don’t quite know the best location to insert the electrode but these are different parts in that thalamocortical striatum circuit.
So a double blinded study looked at this and they said well it may reduce tic therapy in the further refractory Tourette syndrome and the biggest side effects can be eye movement and energy levels.
So who do you consider? Well you have to have a diagnosis made under the DMS criteria by a specialist. You have to use the Yale Global Tic Severity Scale which is going to show you how incapacitating the tics are, so you have to be a severe, severe case. Sometimes these can cause self injury, sometimes they can cause severe disruption of someone's life, they can't have a job, they can't have a social relationship. It used to be that you had to be over 25, but if you are under 18 now you have to have an ethics committee that's involved, which I think is very logical. And they have to show that you've failed medications and you had adequate trials, and the alpha- adrenergics of Clonidine, Tenex, dopamine antagonist either Risperdal or Orap, and then they put in benzodiazepines. For the most part, and we'll talk about another case, I usually don't use benzos for kids long term, I just do not with the side effect profile, but adults will use benzos much more than we do. So that's why that is an extra category that's used. And Topamax and Keppra has not made it to the list.
And the Tourette Syndrome Association has made recommendations that absolutely made sense right. A patient needs to have full information about risk and benefits, they have to have a thorough presurgical evaluation and if your center is doing this you have to share that information with the rest of the world. It makes sense.
So let's go up. So our patient decided to start Tenex. Pretty good control for the last 2 years until the phone call that tics are now rapid fire, 20 times a minute, they can't go to school, they can't go to sleep, we have to send them to the ER. Is this a seizure? What's going on? And this is what you guys see in the emergency room, our residents. After you ask all the questions to make sure this is not a seizure, are they awake and alert, can they function? Then I recommend acute medication for a few days, 3 days up to 2 weeks and what do we use? Well we use Klonopin. This called a tic exacerbation. Every patient that I ever see I warn them about this, this may never happen to you but if it does happen call us, don't go to the emergency room so we can save you that trip. The tics are almost constant, parents will swear this is a seizure. It may look like a seizure even to you guys but they are distractible from it, that's the big thing that you have to test them for in the emergency room.
And sometimes there is an obvious trigger, parents divorcing, somebody broke up with somebody or there was a major event, and sometimes ti's not obvious. So you can't always get that trigger. But we usually use benzos in the emergency room, we can use IV Ativan, as an outpatient you can send them home with Klonopin twice a day and I'll use the max to dose, usually like 3 days. If they have to be on it for 2 weeks then there is underlying anxiety that has to be treated and then they need to follow with someone for anxiety medicine. You can't use an as needed benzo.
So let's switch it up a little bit. So now this is a female, remember this is the 3 to 4 to 1 ratio of makes to female. So this is an 11 year old. She started to have tics after starting Ritalin for a recently diagnosed ADHD. The parents say you know she's rolling her eyes, humming, clicking, I don't like this, she was never like this before. Normal birth, developmental history recently diagnosed with ADHD, started on Ritalin. She lives with her parents, 5th grade and wow what are those grades? Straight As because again this is a common feature that we see with kids. And parents, well they had ADHDs in the family, mom has anxiety, dad has OCD, maternal grandmother has anxiety.
So this is when I dig down for further history. Tell me that you have never seen anything repetitive in your child before? Although people will always state that medication, ADHD medication can bring on tics I have never personally seen this if you can dig into the history enough. Parents will go ah, when they were 5 they did this thing, they used to eye blink, it killed me until about Christmas and then they stopped and we never saw it again. So if you look hard enough you'll see that there is a history of prior tics. So family low and behold 5 years minimal sniffing, grimacing, finger tapping, repeating words. So for me this is enough to diagnose Tourette syndrome. And really the exam shows no tics. No tics doesn't mean no tics, no tics means that they are holding them in or they are not producing them at the time that you are seeing, you are relying on history to tell you that. Awake and alert, and again nonfocal neurologic exam as usual. What's her differential? Well is this medication? Is this seizures? Is this tics? And what's her diagnosis? Mostly or mainly I would really categorize this into a Tourette syndrome that was unmasked. It was low tics they hadn't really noticed until they started the medicine which really exaggerated the tics and wow it's much more obvious to the family.
So this is - I always find this to be a very confusing slide from the National Survey of Children's Health. In the red are children with Tourette syndrome, the blue is kids without Tourette syndrome and what is the percentage with these other comorbidities? ADHD, behavioral issues, I buy this but the problem that I always have with this slide is down here that these kids tend to have more asthma, hearing and vision issues. So I find this a hard slide to understand but I like to add this because I want to tell you that people are looking at the incidence and prevalence of Tourette syndrome and how it is associated with other comorbidities which is an important part.
So the National Centers for Disease Control and Prevention looked and about 86% of children will have a co-occurring behavioral developmental condition. The highest ones are ADHD, oppositional behaviors, anxiety. I don't see much depression. There will be more kids on this spectrum who are diagnosed with Tourette syndrome, but we can also see some learning issues. So not everyone is a straight A. And you can see some developmental issues. And children or in adults with intellectual disability are just at higher risk for moving disorders just across the board. So when I talk to families who have tics I want to look for these other things. These are the 3 most highly associated things, ADHD by far, the highest I think is anxiety and I lump that in with OCD. And then emotionality and we'll talk about those.
So the most important treatment goal is when you first see the child when they are 4 or 5 the most significant thing because it's the most obvious are the tics. The next thing is that evolves, that those other behavior and comorbidities take over and become much more pressing and much more obvious for the family. And that one slide that I really liked that looked at you know when did these different things come out in the age of the child, what it really showed is ADHD presents first around preschool years, 3 to 4, then you get tics and then you develop OCD and anxiety at later years and that's what we see. But each time I see the family and I usually see them every 6 to 9 months is I'm looking, what's the most significant symptom? Is it your tics, is it anxiety? And when the kids are older their tics are down on that list of concern, it's those other things , the anxiety, the OCD, the ADHD, the acting out behavior that are the most important. And if you treat that overriding symptom the rest get better. If you treat that anxiety tics will always get better. If you treat the ADHD there is less family strife, there is less bullying going on, tics improve. So we went to always know what the issue is.
And this is a big issue you know do you treat ADHD because we know that ADHD medicines can increase tics, that's where we start, that's a statement that we start with. But if a child has ADHD that's proven the most effective treatment is ADHD medication. And we are going to take that risk that maybe it will increase tics, but we'll see. So we usually start low dose, I prefer to start with Methylphenidate because it can be short acting and try it on a weekend. If tics suddenly exacerbate then we'll know that that's not the right medication. But what if tics increase a little but wow for the first time in their life, they are able to pay attention, the teachers aren't complaining and those kids are now rock stars in school? The tics increased a little but look at what we've gained. So everything tends to be a balance when we are looking at these things. So I usually start with Methylphenidate, we can then use other preparations within there so we have a lot to manipulate focal intensity, very good medication also in this category if there is a lot of tics. Next I'll use Strattera and then after that Adderall and usually Adderall is great for older kids, younger kids up to the age of 10 get very emotional and angry on Adderall so I save that to the end. And we are always following the AHA guidelines in order to start the medication to begin with.
And with ADHD we always consider behavioral therapy. Families will understand tic therapy because you get something out of it right away, families have a difficulty trying to you know what we are going to have you go to therapy to learn to better control your ADHD that's a hard sell for families but it can really, really be effective. We have therapy groups in the area that will work on executive functioning for ADHD kids, so we have therapy out there that can be effective if families will put in the time. We will monitor for tics. You start the ADHD medicine we'll monitor for tics. Take away the ADHD medicine the tics will go down, it doesn't fire them up and now you are stuck, that doesn't happen. And we'll monitor symptoms of ADHD after you start the medicine using the different forms that are listed there. And it's usually good to establish a 504 plan or IEP and again we have wonderful advocates that can help families.
So let's go back to our patient. So for this patient I'm going to diagnose Tourette syndrome based on history, she still have ADHD and recommend continue Ritalin, let's see what happens, let's monitor the tics. Then the parents ask well what if those tics increase? So here we have - we have a couple of options. And with ADHD management, with Tourette management we have a lot of things we can manipulate to make better and to make them more effective. So we could change to another ADHD medication, we could change from just your regular Ritalin to Focalin which tends to be a little more specific, less side effects of tics. Or we could keep her on Ritalin, add Tenex so we have a medicine to treat ADHD with a medicine onboard to treat the tics specifically. And hey guess what, Tenex also helps with ADHD so we are willing with that medication. So we have a lot of options for families. And you don’t have to wait very long to see effectiveness with either medicine.
Right now we are going to move onto case 4. So this is a 12 year old male who comes in after punching a hole in the wall when the parents told him he couldn't go out for ice cream, a very minor little thing in the family which led to a major aggressive behavior outburst. This is not uncommon in this population. Parents have complaints of tics, increase in fears, will not leave the house, having meltdown and anger fits. Meltdowns are good for kids under 5, past that age that's not a typical behavior. That is going to be more of a behavior that we see in other mental health issues but also Tourette syndrome. Very, very common that you are talking about meltdowns in 10 year olds. Normal birth and developmental history, no medications, lives with parents, straight A student. In family history there is anxiety, there is ADHD, there is OCD, there is panic attacks, so we have the family history that's usually there.
No tics are seen on exam but no tics doesn't mean that there aren't tics. Nonfocal neurologic exam. And what's the differential, is this anxiety, is this OCD, what is this? So anxiety and OCD, we have therapy that can be quite effective. We have some kids every year that will get into OCD that is so paralyzing they cannot carry through with activities of daily living and we use the OCD program at Whippet which is quite effective. So if it gets to the point that the child is paralyzed by their OCD we actually wonderful interventions that we are very lucky in Pittsburgh to have. And then there is medications. There may be a time that you've tried behavioral interventions or the anxiety OCD is so severe that we actually have to send them to psychiatry and try medication and this can really be lifesaving to these kids when it gets severe.
One thing I want to mention, you can do nothing, you don't have to do any treatment for tics and by the time they are 18 they are going to outgrow them. If you do nothing about anxiety that gets to the point that it is bothering them, it is producing an issue it won't get better in time, they are not just going to outgrow it. And so when kids are anxious or they are showing these aggressive behaviors when they are very young, 4 or 5, that is the best time to get them in therapy. Show them that therapy can work, show the family. It is incredibly difficult to take a 14 or 15 year old boy and say you are going to go to therapy. If they are in therapy at 4 or 5 they have the understanding of therapy, it is hard to take a teenager and say you have to go therapy now because you are punching holes in the wall. That is very, very hard.
How do we treat this emotionality or these rage attacks which truly do exist? It's therapy. There is not a medication unless it gets really aggressive you think about Risperdal and this is therapy. The difference kids with Tourette syndrome are really smart, they are very mature but there is an impulsivity part to them that is really late to develop to have a control of that. So the normal typical sibling will notice that mom is getting mad and not push here, the Tourette kid will just keep pushing until they pass that line. And that's what we see. And I don’t see that improve really until around 12 to 15. By 15 the child is choosing to walk away, before that it's really difficult. So we want to get them in therapy so they can learn tools, go punch your pillow not the wall. You have to treat this.
Some kids with Tourette syndrome they rule the house. You know the parents walk on egg shells, they never want to say no to the child because they don't want to see these rage attacks come out. And truly I think these rage attacks are pent up anxiety because they go through - people have shown videos of them having this whole entire fit and afterwards they calm down and their parents rock them and it's just feedback that the family should not be using. So we want them to get into therapy so the family can learn how to deal with these behaviors. And again emotionality is thinking about intensive behavioral services.
So is the treatment working? I always ask the patient first, how are your tics because they are going to give me better insight than the parents who are the observers and the more anxious people. Parent can always tell us and the teachers, so many teachers communicate with families now through email that we really can get great teacher input. And then friends, what are their friends saying?
So the keys to the evaluation that I'd like you to think about is how to characterize movements and vocalizations. Ask the family show me what it is. If they can show you it's usually a tic, if they can show you video that really helps. You can list all the possible tics but I really highly recommend saying a whole list in front of kids with tics because they are so susceptible they'll start doing those tics you just named and then the parents are confused and they don't know what the baseline tics were. So I'll have parents circle a list of those. Determine the impact of the tics. Is it bothering them? Is it affecting their life? If not we are not going to treat it. If it is we are going to treat it.
The exam you want to - it's going to be nonfocal other than having the tics or seeing the symptoms of anxiety, OCD or ADHD. And if it's not a normal neurologic exam there is a very rare form called chorea acanthocytosis where they start with Tourette syndrome and it's a neurodegenerative disorder. So if it's a focal exam we have to really be careful and we have to work them up.
The family history commonly anxiety, OCD. Siblings can show different penetrants of these. So one sibling has nothing, one sibling has ADHD, one sibling has everything. So you can see the difference in families. And if there is other movement disorders, especially if there is Huntingdon's in the family kids with Huntington's can have tics, usually it's not their first presentation but we want to always have that family history. And then my discussion, this is why our appointments take so long, is I describe tics. How do you make the diagnosis? Families are so afraid of the Tourette diagnosis, but if you give the caveat to you know what most of our Tourette kids are really bright, straight A, high achieving kids that helps. Discuss the associated symptoms so they know what to expect and what things we want to monitor each time we see them. Discuss when you treat and what the options are, telling them nothing is going to totally take away the tics. Tell them about a tic exacerbation and you have to be available to phone calls. I didn't have to see it in the clinic very frequently because their exams are normal, but we can do a lot of management on the phone. But again I usually see them every 6 to 9 months. and then tell them you know what in the beginning of school and during the holidays tics are going to increase. You may have to wait a couple of weeks, but if they know that they are not going to call you and you are just going to tell them you know we have to wait it out sometimes.
And in the interim, history for this last patient that we had he actually went to therapy, anxiety got better. He went out with his friends how. His rage got much better. When he's upset he'll actually go lift weights or go for a run. This is what we see around this age. And I say how are your tics? I eye blink. What are your vocal tics? Mom, do you remember my vocal tics? Because this is what happens at 15, they can't even remember their tics, things got so much better from when they were 11. And the best recommendation that I can ever make to a patient is follow up with me as needed. So if we are at this point I am so incredibly happy that this is what I'm recommending. And it's most important to give hope, support and resources and telling the family it will get better. It's going to be time, that is our answer to everything, it's going to be time that will help us. But this is really, really what's important.
And the resources, I cannot stress, it used to be known as the TSA or Tourette Syndrome Association. Really hard to Google because you got the TSA all the time, so they changed the name. So you can do tourette.org now and it's the Tourette Association of America. Wonderful, this is a clearinghouse. You can send teachers here, you can send kids, they can read about Tourette syndrome. It is wonderful for physicians to go to. It tells you about the newest treatments, the newest studies and it has wonderful resources such as teaching parents how to do CBIT with their families. Again we have so many families that don't live in an area where they can actually get to a therapist that families can learn how to do this therapy.
And in summary you know the treatment of Tourette is really a collaboration amongst all of us. And the mature of tics is really a rollercoaster throughout the years. Tics are going to increase, they are going to decrease, other things are going to become more important; but it's really the long ride that's the important part and you want to be there for the family and the patient.