By Lo Tuan, Neurobiology, Physiology, and Behavior and Managerial Economics, ’17
“I chose to write about Tourette Syndrome because someone who is dear to me was diagnosed with it. Watching him struggle at a young age, I could only imagine how difficult it must have been dealing with strange and disapproving looks from peers and teachers. Through the gradual decline of symptoms over the years, he learned to cope with his tics and sought to educate others about the syndrome. Inspired by his story, I wrote this case report in hopes of share his journey with others.”
Tourette syndrome is a neurological disorder characterized by tics, which are involuntary, nonrhythmic, repetitive movements and vocalizations. In about half of the patients with Tourette syndrome, tic symptoms decline during adolescence and disappear by age 18. While it is possible for tics to persist into adulthood, in 40 to 45 percent of the cases tics’ severity gradually declines. In this case report, the patient was diagnosed with Tourette syndrome at the age of eight and continues to display tics at the present age of 18.
The patient is an eighteen-year-old Asian male residing in suburban California. At age eight, he presented to a psychiatric outpatient department with a 2-month history of repetitive involuntary eye blinking, shoulder shrugging, and throat clearing. The intensity and duration of these motor and vocal tics varied, with no single episode lasting more than a few seconds, but he was never completely symptom-free. The frequency of his tics ranged from many times a day to once every few days. These tics were more severe when the patient was fatigued or stressed and less severe when the patient was mentally focused. The patient could voluntarily suppress the tics for a few minutes at a time, but such effort induced great stress and restlessness.
Prior to displaying symptoms of Tourette syndrome, the patient was reported by his family to possess a sunny disposition. He excelled in his academic endeavors and maintained friendly relationships with his peers. With the emergence of tics, the patient began to feel embarrassed at school as his symptoms drew the attention of his teachers and fellow students. His teachers attributed the symptoms to typical disruptive classroom behavior and relayed their observations to the patient’s family. When the behavior persisted for more than a month, the teachers recommended the parents to seek professional assistance.
The patient’s family sought medical expertise two months after the onset of symptoms when the patient was eight. The patient had a normal delivery with no antenatal or postnatal complications and experienced no developmental problems. He has no history of psychotic symptoms, hyperactivity, obsessiveness, compulsiveness, or substance abuse. There is no family history of mental disorders. The psychiatrist performed a continuous performance test (CPT) of attention, revealing borderline severity of Tourette syndrome. No triggering factors could be identified. Observed symptoms included excessive eye blinking, shoulder shrugging, and throat clearing. A physical examination showed no other abnormalities. The neuropsychological examination revealed that the patient had intact thought processes and higher mental functioning. Comorbidities of attention-deficit/hyperactivity disorder (ADHD) and obsessive compulsive disorder (OCD) were excluded by clinical interview. Lead poisoning was eliminated as a potential cause of the observed symptoms through a laboratory blood test.
The psychiatrist educated the patient and his family about Tourette syndrome and recommended that they speak with the patient’s teachers about his condition so that individualized support and supervision could be provided. Since the patient’s symptoms did not interfere significantly with his social and academic performance, the psychiatrist eliminated medication as a treatment option. With a newfound understanding of Tourette syndrome, the patient was able to better cope with his symptoms and his negative emotional responses to the disorder declined. His confidence was gradually restored with the support of his family, friends, and teachers.
The patient’s eye blinking persisted for two years but decreased in intensity and frequency until it completely disappeared at the age of ten. However, he continues to display shoulder shrugging and throat clearing at the current age of 18, though their severity has been steadily decreasing. Presently, the patient exhibits these symptoms at a frequency of a few tic episodes per month, each lasting one to three seconds.
Tourette syndrome is one of the three tic disorders recognized by the Diagnostic and Statistical Manual of Mental Disorders under neurodevelopmental disorders (APA 2013). The exact cause of Tourette syndrome is unknown, though studies suggest that it involves complex interactions among social, environmental, and genetic factors. One hypothesis is that defect in the striatal-thalamic-cortical spinal system causes disinhibition of the motor and limbic system, leading to Tourette syndrome. The disorder is often transmitted bilineally, but scientists haven’t been able to identify specific genes responsible for producing the symptoms. The offspring of parents with Tourette syndrome faces a 22 percent risk in developing the disorder, while siblings of Tourette patients have a risk of around 8 percent.
The diagnosis of Tourette syndrome does not involve any laboratory tests. Instead, a clinical evaluation is performed following the DSM guidelines. To avoid misdiagnosis, Tourette syndrome is characterized by three critical components. First is the presence of both motor and vocal tics for more than a year, though they do not need to occur simultaneously. Second, the tic onset must be before age 18 years. Third, tics must not be caused by substance intake or another medical condition. A family history of similar neurological symptoms supports the diagnosis of Tourette syndrome. The diagnosis of Tourette syndrome can also be buttressed by the presence of comorbidities including ADHD and OCD. Tourette syndrome can be isolated from other hyperkinetic movement disorders such as chorea, dystonia, athetosis, myoclonus, and paroxysmal dyskinesia by its two unique qualities: the ability to suppress tics and the premonitory sensations that often precede tics.
Education about Tourette syndrome to people who interact with the patient is key to managing the disorder. Only when symptoms of Tourette syndrome interfere with social, academic, or occupational performance is intervention warranted. Treatment methods are directed to eliminate the most serious symptoms, including those of comorbidities such as ADHD, OCD, and mood disorders. When tics are mild and nondisabling, education and counseling present an effective plan to treat Tourette syndrome. But when tics become troublesome, medications such as tetrabenazine, fluphenazine, and orrisperidone are prescribed to alleviate the symptoms. Fluphenazine is a dopamine receptor blocker whereas tetrabenazine is a dopamine depleter that inhibits vesicular monoamine transporter type 2 (VMAT2). Both drugs work to reduce tics’ frequency and intensity by approximately 60 to 80 percent (Jankovic 2015). It is advantageous to use the latter antidopaminergic drug because it provides the same benefits without the harmful side effect of tardive dyskinesias, a disorder leading to involuntary, repetitive body movements.
For patients who are intolerant or unresponsive to the pharmacologic approach, behavioral therapy is recommended as an alternative intervention strategy. More specifically, habit reversal training (HRT) is implemented to control tics. There are two components of HRT: tic-awareness training, which focuses on recognizing early signs of tic onset, and competing-response training, which develops a voluntary movement that opposes the tic. There are several limitations that apply to this treatment method. First, in order for this behavioral management to be successful, the parents and the therapist must be well versed in the HRT techniques so they can be actively involved in the training process. Such endeavor requires a substantial commitment of time and effort on the part of the patient, the therapist, and the parents. Due to these rigorous demands, it is unlikely that all parties will be able to maintain the necessary compliance with the treatment plan for sustained benefit to be observed. Another concern addresses the possibility that the patient’s attention and learning may be negatively impacted by the mental effort required to fully comply with HRT.
If tics are concentrated in specific muscles in the body, botulinum toxin injections into the affected regions offer a viable treatment option. To treat the comorbid condition of ADHD, alpha adrenergic agonists such as clonidine and guanfacine are used to suppress related behavioral symptoms, especially those associated with impulse control and rage attacks. Guanfacine is preferred over clonidine because it requires fewer daily doses and is less sedating. To treat symptoms of OCD, psychiatrists often prescribe a selective serotonin reuptake inhibitor (SSRI) such as fluoxetine starting at 20 mg daily (Jankovic 2015).
[APA] American Psychiatric Association. c2013. Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition [Internet]. American Psychiatric Publishing; [cited 2016 Feb 17]. Available from: https://vpn.lib.ucdavis.edu/doi/full/10.1176/,DanaInfo=dsm.psychiatry online.org+appi.books.9780890425596.dsm01#BCFCACFC
Jankovic J. 2015. Tourette syndrome [Internet]. Waltham (MA): UpToDate; [cited 2016 Feb 17]. Available from: https://vpn.lib.ucdavis.edu/contents/,DanaInfo=www.uptodate.com+ tourette-syndrome?source=search_result&search=tourette+syndrome&selectedTitle=1~72