Billie Eilish and Lewis Capaldi have more recently announced their struggle with Tourette Syndrome. Lewis Capaldi even shared intimate details in his documentary, How I'm Feeling Now. Their battle has brought Tourette's Syndrome into the limelight and the public is extending compassion. An Uber driver in Evansville, Indiana is also catching attention.
As both of them attested, many individuals struggle with #Tourettes for years before obtaining their diagnosis. We sort of just get use to how we are and as we decline in health, we assume that as our new normal without asking many questions. Sometimes we are afraid to know and meeting with a clinician for diagnosis will make that reality known and therefore, necessary for us to acknowledge and accept. We freeze up and hope the issue self-resolves.
Tourette's syndrome is one of the most common causes of motor and phonic tics. This childhood-onset movement disorder is commonly associated with obsessive-compulsive disorder (OCD), attention-deficit/hyperactivity disorder (ADHD), and other psychiatric comorbidities. Learning disabilities, although not intelligence is also associated, as are behavioral and conduct issues. Anger management may be an issue, or adjusting emotionally and socially. Insomnia or falling asleep during the day is also common, as is sensory processing issues. The perception of Tourette's syndrome has evolved from a psychological disorder to one with biologic, genetic, and imaging features more consistent with a neurological disorder.
What Does Tourette's Look Like?
Tics are involuntary or semi-voluntary, sudden, brief, intermittent, repetitive movements (motor) or sounds (phonic) which can be classified as simple or complex. They come on as children though so it is easy to assume these are just unique little characteristics; "he's always done that." Sometimes this looks like someone stretching their eye lids, their shoulder jumping a bit, or even quirky sounds. Sniffing may look like seasonal allergies. Eye blinking may be assumed to be a vision problem. They may be in just one muscle or a group of muscles, and can be brief (clonic) or more prolonged (dystonic). They may be sustained or isometric (tonic). They can really be very insidious so that they seem to be normal or intentional movements, essentially camouflaged.
Complex motor tics are a bit more ominous and present a bit more inappropriate, thus truly calling attention to the person because of their exaggerated, forceful, and repetitive nature. Socially inappropriate movements, including obscene gestures (#copropraxia) or imitating another's gestures (#echopraxia), can be particularly bothersome.
A more simple tic would be eye blinking or head jerking, even nose twitching. Sometimes individuals with Tourette's will have stretch their necks or rotate their shoulders, extend their arms or bend them. Others can have more complex tics that cause burping, grunting, blowing, hiccuping, screaming, sniffing, throat clearing, barking, obscene or forbidden gestures, jumping, spinning, or even repeating your statements or copying your movements.
When I was in my post-graduate program working in a busy primary care program I was meeting with a gal who had a history of significant addiction and some more advanced psychological diagnosis. She was clean now but being maintained through a complex array of pharmaceuticals. As we spoke, she would hum or grunt rather frequently, but seemingly unaware. I asked her about this and she shared that she had experienced this for quite a while and didn't know what it meant, and never thought to bring it up. Interestingly, when I was speaking to the clinicians in the practice who knew her well, they acknowledged they too had noticed this particular tic of hers but had never asked her about it, nor had she ever mentioned it. As a culture we are short of trained to ignore these socially awkward situations, but as the clinician, it really is our responsibility to inquire which can be a really hard line for some in practice. My point here is that the burden may fall on the individual, but quite often what happens is because the practitioner didn't say anything, the assumption is that nothing is wrong.
What is Tourette's Like for the Individual?
The link above offers an interview with someone with significant Tourettes. He describes being more of an observant, but often feeling like he is trying to suppress his tics like one tries to suppress their sneeze. Others share a similar feeling, and also the really unfortunate ways people have responded to them in spite of their tics being completely outside of their control.
Tics are transiently suppressible and suggestible. They may improve with concentration or distraction and may worsen with stress, fatigue, or excitement. Tics may be relatively absent while a child plays a video game or may occur immediately on casual mention. Prolonged suppression of tics causes an inner tension that may lead to a more dramatic tic or burst of tics. Children may experience a sort of "release" so that when they get home from school, they may have an unloading of multiple and significant tics. Various environments can stimulate these in unique ways as well.
About 80 percent of individuals with Tourettes share they can feel some of them "bubbling up," or a sense of premonition or sensation a tic is coming. They may have burning or itching in their eyes before an eye tic, or throat tickling or discomfort before throat clearing, or muscular tension before shoulder shrugging. The sensation is temporarily relieved after the movement, so interestingly, some individuals execute tics repeatedly until they sort of get it all out so they can feel some sense of relief but this can then lead to a compulsive quality.
When tics occur intermittently, somewhere between one and twelve months, they are termed transient, and about 3 to 15 percent of people have transient Tourettes. Those with Tourette's syndrome though have tics that wax and wane over days, weeks, or months, such that they experience new tics and can regain old ones. Tics may worsen with excitement or anxiety and get better when calm or when focused. There do seem to be triggers, such as tight collars triggering neck tics. Hearing another person sniff may trigger the same behavior in someone with Tourettes. Tics do not go away with light sleep, but when in deep sleep they do seem to significantly diminish.
How is Tourette's Syndrome Diagnosed?
When we, as clinicians, are evaluating someone with tics we are guided by a particular diagnosis criteria, which includes observing for the presence of multiple #tic types, the total duration of these symptoms, and when they initiated as the expectation is to have identified these prior to the age of 18 years. Males are five times more likely to be affected, and the prevalence may approach 0.72 percent. Typically, tics start around eight years of age, peak in preadolescence, and decline in early adulthood. Complete resolution occurs by age 18 in half of individuals with Tourette's syndrome. This natural history is thought to parallel the process of nigrostriatal innervation in the developing brain, implicating Tourette's syndrome as a neurodevelopmental disorder.
What is expected for diagnosis is the presence of multiple motor tics and one or more phonic tics at some point, although not necessarily at the same time. They must occur many times a day (usually in bouts) nearly every day or intermittently over more than one year, during which time there must not have been a tic-free period of more than three consecutive months. There are also tic disorders with varying diagnostic criteria, like having a single tic whereas Tourette's is typically impacting more than one anatomic location, varies in frequency and type and even complexity.
More than half of children with Tourette's syndrome experience a psychiatric comorbidity, commonly ADHD by age four and OCD by age seven. Depression, anxiety, and behavioral problems may be at least as disruptive as tics or can exacerbate them. Executive dysfunction from ADHD can disrupt school performance. For example, children may have difficulty with initiating, planning, sequencing, and prioritizing assigned tasks such as homework or projects, leading to incomplete work or careless errors. In fact, ADHD and tics are so common that everyone with ADHD should be questioned about tics. Intellectual abilities are pretty fair or equally distributed among those with Tourettes, but neuropsychological features such as dysgraphia, dyslexia, learning disabilities, and impaired visuomotor integration may pose educational obstacles. Tics may cause grades to decline and even lead to disciplinary action at school. Children can become withdrawn and socially isolated, and may have poor self-esteem because of their symptoms and teasing by peers. My son has been made fun of for his dyslexia in front of the entire classroom.
Why? Help Me Understand Why.
In most of those who suffer with Tourettes, the birth and developmental histories are completely normal, although this in itself is a bit of a misnomer, because birth and developmental history in the U.S. itself is not "normal." The neurological exam is seemingly normal and other than the presence of tics, diagnostic testing provides little additional information. Because there is some ability to suppress tics, often these aren't seen in the clinic, so some practitioners will ask for video evidence.
Atypical presentations will cause the clinician to dig in a bit deeper and assure there isn't another zebra, in that we don't want to miss a brain tumor, seizures, an essential tremor, drug abuse or a psychologic disorder. There may also be an underlying autistic spectrum disorder, or even mental retardation or abnormal development. Arnold-Chiari malformations, corpus callosum dysgenesis, and craniosynostosis are structural issues that need ruled out. Huntington's disease, Klinefelter syndrome, Neurofibromatosis, dementia, and headaches are additional differentials.
Interestingly, both myself and my maternal grandmother have ADHD (although this is my diagnosis based on observation) and we also both have restless leg syndrome. The latter is also a tic disorder and both are managed by dopamine. These are highly genetic. Both restless legs syndrome and Tourette's syndrome involve movements initiated by an urge or uncomfortable sensation and followed by a sense of relief; however, restless leg affects the lower extremities, increases with inactivity, worsens at night, and does not share comorbidities.
These two issues of mine, as well as Tourette's, are improved with the use of selective serotonin re-uptake inhibitors, better known as #SSRIs, and dopamine-receptor-blocking drugs which really supports the theory that dopaminergic and serotonergic neurotransmission is involved. The high density of dopaminergic and serotonergic neurons in the striatum and presence of tics in other disorders with striatal dysfunction suggest that Tourette's syndrome is a basal ganglia disorder. Brain imaging also supports this theory, as does appreciating that there is improvement in symptoms after deep brain stimulation of the globus pallidus interna or thalamus. Imaging does show abnormalities in the basal ganglia and is associated with cortical areas during tic activity. Dopaminergic innervation may be increased in the striatal of these individuals.
As mentioned there is a genetic predisposition to Tourettes, as well as OCD and ADHD. The SLITRK1 gene encodes a protein that can influence dendritic growth in animal models, but the actual relationship to the symptoms of Tourettes remains somewhat unclear in spite of more recent studies demonstrating alterations in these gene sequence in some cases of Tourette's syndrome. Abnormalities in the NRXN1 and CNTN6 genes have also been identified. These regulate the normal formation of nerve connections and play a role in Tourettes. These genes may not result in Tourettes though and may instead present as OCD or a milder tic disorder, or nothing at all. We know though that these genetic variants are related to the same variants presenting as ADHD and OCD.
What Do We Do About It?
Getting a thorough history and exam is important because a comprehensive picture is imperative to identifying how other conditions may be impacting or exacerbating tics, even daily living. The goal of treatment is really to improve social functioning, self-esteem, and quality of life. Complete resolution of symptoms is not often achieved.
Our approach then is to identify the needs and desires of each individual and identifying the best approach, which typically involves a combination of healing modalities. Medications may be necessary for many. We often triage first, addressing the most disabling symptoms first. Then we determine if symptoms are severe enough to engage in psychosocial treatment. Does the child need an IEP? How are their grades and social development? Do they suffer with self-esteem? Are they being teased by their peers?
Might cognitive behavioral therapy be helpful? Might talk therapy? Potentially they may utilize habit reversal training? Are the tics significant enough that a mild agent is warranted, such as Topamax which is an antiepileptic drug? Tics can be painful and even cause injury. Don't underestimate their impact on self-esteem either. If these are concerns, medical treatment really is warranted. Haldol and Orap are approved by the FDA for treatment of tics and Tourette's syndrome, although Haldol is not favored as it has some less favorable side effects. While Haldol and Orap are FDA approved, dopamine-receptor blocking agents remain the most effective pharmacologic treatment for tics.
There are other options too, such as Catapres and Tenex which are nice when symptoms are mild. Clonidine comes in a patch, and helps with anxiety, insomnia, hyperactivity, and impulsivity so if both ADHD and Tourette's are of concern, this may be a good option. Side effects may be better with guanfacine than clonidine though, but both are pretty well tolerated. If stimulants worsen the tics, as is often the treatment for ADHD, address just the tics first and then reintroduce the stimulant for the ADHD and reevaluate. Don't start two medications at once. Strattera though can improve both ADHD and tics, but individuals seem to have really varied responses here.
This is a bit beyond my knowledge, but I want to share so you can research it for yourself as an option. If a client of mine was in need of more advanced treatment, we would refer out to a specialty center, but botulinum has some support in the literature as well. It can reduce tics and the sensations that come prior. Some practitioners are even offering injections of botox in the vocal cords to reduce the phonic tics. Deep brain stimulation is then used for truly severe and refractory cases of Tourette's.
It's important too that we really have high suspicion for other conditions alongside Tourettes, such as obsessive-compulsive disorder, depression, and anxiety, and treat these as well. Education though is key; it's empowering and can really improve self-esteem and social functioning. Education can even reduce tics and other maladaptive behaviors. Awareness training is helpful, as is assertiveness training, cognitive therapy, relaxation therapy, and habit reversal therapy.
Education isn't just for the individual with Tourette's or their immediate family, but also teachers, classmates, and other school personnel. This helps create an accepting environment for a child with Tourette's syndrome who may otherwise be teased, ridiculed, disciplined, or simply told to "stop." School modifications may be necessary and the school may resist these. Utilize an advocate if necessary. The Tourette's Syndrome Association leads local support groups that may prove helpful as well.
References
Jankovic, J. (2001). Tourette's syndrome. N Engl J Med, 345(16), 1184-1192.