John is a fourteen-year-old male middle school student, who has a history of blinking, shoulder shrugging, sniffing, vocalization, and whistling. He was presented to the school counselor and reported a history of four years of involuntary symptoms. John shared that the symptoms would be less intense during the summer, especially when he kept busy with physical activities. But, when he experienced exhaustion, anxious feelings, or sat idle for an extended period of time his symptoms would worsen. He had not yet shown an extended period of time, in his history, that was free of symptoms. John was only able to suppress his tics for a few minutes at a time, but his tics were connected to stress and anxiety. John has developed other symptoms has he has gotten older, which include smirking and tapping of his foot. His tics has made it uncomfortable for him and his parents when going out in public and has caused John irritation throughout his day. John also suffered from poor self-image, which in turn caused him not attended school for over a two-month period. His grades progressively became worse and John did not display any form of academic motivation. John was given a diagnosis of Tourette syndrome and will be attending an outpatient psychiatric clinic in order to receive further analysis and evaluation.
Tourette syndrome or TS is a neuropsychiatric disorder that typically has an onset during childhood. TS is known for multiple motor tics and vocalizations. Early symptoms of Tourette symptoms can typically be seen at the beginning stages of childhood and it has an average onset between the ages of three and nine years of age (Prestia, 2003). Male are affected about three to four times more often than females and TS can occur across all ethic backgrounds (Comings & Comings, 1985). It is estimated that 200,000 Americans have been diagnosed with the most severe form of Tourette syndrome. Studies have shown that 1 in every 162 children will have TS and reports have shown that 1 in ever 360 children, that are ages 6-17 in the US, will receive a diagnosis of TS (“Prevalence of Diagnosis”, 2009). These reports show that half the children with TS go undiagnosed. One symptom that usually occurs during the beginning and is something parents should look out for is rapid eye-blinking, frowning or smirking, and constant clearing of the throat (Comings & Comings, 1985).
There is currently no treatment for Tourette syndrome
Although TS can be a chronic condition with symptoms lasting a lifetime, most people with the disorder experience their most severe tic symptoms in their early teens, with improvement occurring in the late teens, and continuing into adulthood. TS is named for Dr. Georges Gilles de la Tourette, a French neurologist who in 1885 first described the disorder in an 86-year-old French noblewoman (Bloch & Leckman, 2009).
Many individuals with TS experience additional neurobehavioral problems that often cause more impairment than the tics themselves. Children with TS often experience comorbid conditions such as Intermittent Explosive Disorder (IED) and Attention-Deficit/Hyperactivity Disorder (ADHD) (Conelea, Woods, Zinner, Budman, Murphy, Seahill, Compton, & Walkup, 2011). In addition, problems with reading, writing, and arithmetic, and intrusive thoughts/worries and repetitive behaviors normally associated with OCD have been noted. For example, worries about dirt and germs may be associated with repetitive hand-washing, and concerns about bad things happening may be associated with ritualistic behaviors such as counting, repeating, or ordering and arranging (National Institute of Neurological Disorders and Stroke, 2018).
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Individuals diagnosed with TS have also reported problems with depression or anxiety disorders, as well as other difficulties with living, that may or may not be directly related to TS. In addition, although most individuals with TS experience a significant decline in motor and vocal tics in late adolescence and early adulthood, the associated neurobehavioral conditions may persist (National Institute of Neurological Disorders and Stroke, 2018).
Tics are categorized as either simple or complex. Simple motor tics are sudden, brief, repetitive movements that involve a limited number of muscle groups. Some of the more common simple tics include eye blinking and other eye movements, facial grimacing, shoulder shrugging, and head or shoulder jerking. Simple vocalizations might include repetitive throat-clearing, sniffing, or grunting sounds (National Institute of Neurological Disorders and Stroke, 2018).
Complex tics are distinct, coordinated patterns of movements involving several muscle groups. Complex motor tics might include facial grimacing combined with a head twist and a shoulder shrug. Other complex motor tics may actually appear purposeful, including sniffing or touching objects, hopping, jumping, bending, or twisting. Simple vocal tics may include throat-clearing, sniffing/snorting, grunting, or barking. More complex vocal tics include words or phrases (National Institute of Neurological Disorders and Stroke, 2018).
Perhaps the most dramatic and disabling tics include motor movements that result in self-harm such as punching oneself in the face or vocal tics including coprolalia or echolalia, which is characterized by repeating the words or phrases of others (Leckman et al., 1998). However, coprolalia is only present in a 10-15 percent of individuals with TS. Some tics are preceded by an urge or sensation in the affected muscle group, commonly called a premonitory urge (Leckman et al., 1998). Often individuals with TS will describe a need to complete a tic in a certain way, or a certain number of times in order to relieve the urge or decrease the sensation (Leckman et al., 1998).
In addition, in more severe cases of Tourette’s syndrome, physical problems have been reported. Increased stress from the tics on the body can result in damage to organs, muscles, and joints, and also the children are at an increased risk of injure themselves in cases involving complex tics (Prestia, 2003).
Relationship and Daily Functioning
Relationship. Many children with TS will need special-education facilities as learning disabilities are frequently reported by teachers and parents in children with TS (Murray, 1997). Written assignments may cause difficulties because the children do not write fast enough and their writing may be illegible (Murray, 1997). Arithmetic is also an area of deficiency in some people with TS; others score below their age level in reading (Murray, 1997). For many children with TS, these deficits will increase stress, increasing the possible need for psychological help. Children and parents may require assistance coping with peer rejection, loss of self-esteem, and the negative stigma attached to the diagnosis (Murray, 1997).
Daily Functioning. A range of TS-related difficulties with academic work, and social and emotional well-being in school have been reported. These include that TS makes school work more difficult; negative responses to TS from peers; and TS makes it more difficult to manage emotions in school and social settings (Wadman, Glazebrook, Beer, & Jackson, 2016). The difficulties most frequently reported by young people were problems concentrating in academic situations, and unhelpful responses by adults and other students such as name-calling and mimicking tics have also been noted (Wadman et al., 2016). A number of parents and children diagnosed with TS expressed concern that the child had no friends, and was socially isolated in school, as well as in external environments (Wadman et al., 2016).
Recent research has focused on the tics of affected individuals with TS with the belief they are caused by faulty wiring in the brain that leads to hyper-excitability in the brain regions controlling motor function (Draper, Jude, Jackson, & Jackson, 2013). In this study the researchers used a method called Transcranial Magnetic Stimulation (TMS) in which a magnetic field is passed over the brain to produce a weak electrical current which stimulates motor function to induce a twitch response (Draper et al., 2013). By delivering TMS at different points in time as the participants were about to undertake a hand movement, the researchers were able to measure alterations in brain excitability ahead of the movement and chart the differences between each person (Draper et al., 2013). The results showed that subjects with TS, unlike those of a similar age without the condition, were least able to modulate the hyperactivity in the brain (Draper et al., 2013).
Additional research by Draper et al. (2013) has involved the use of a similar type of brain stimulation called transcranial direct current stimulation (TDCS) to study the brains of children with TS. Early results suggest that this intervention can be applied to decrease neuronal excitability and this may be effective in suppressing tics for extended periods. In addition, if another form of TDCS is applied, one that increases neuronal excitability, it may act to improve learning and memory function, particularly in the context of behavioral therapies (Draper et al., 2013). Following use of these treatments lasting effects can be applied to the brain, they report. If proven to be effective through additional research, Draper et al. (2013) reported that the technology could be adapted into a machine-style device that could offer an inexpensive, portable and individualized in home therapy for children with TS.
Normal Brain Functioning
The normal functions of the human brain seem to be dictated by rhythmic oscillations that continuously repeat over and over, much like a popular song on the radio. These oscillations change and modulate to control behaviors. However, if an oscillation goes bad, the dysfunction can result in a disabling tic, or other behavioral symptoms of TS (Lanciego, Luquin, & Obeso, 2012).
The basal ganglia and related nuclei consist of a variety of subcortical cell groups engaged primarily in motor control, together with a wider variety of roles such as motor learning, executive functions and behavior, and emotions (Lanciego, Luquin, & Obeso, 2012). The basal ganglia receive information from the cortex, much of which is sent first to the caudate and putamen, which are referred to as the striatum (Lanciego, Luquin, & Obeso, 2012). After the information is processed by the basal ganglia, it is sent back to the cortex by way of the thalamus. Thus, the pathway from the cortex to the basal ganglia and then back to the cortex via the thalamus forms a loop (Lanciego, Luquin, & Obeso, 2012).
TS Brain Functioning
Individuals with TS that have been studied over the years have suggested that TS results from dysregulation or malfunction in the basal ganglia, a region of the brain that is thought to facilitate desired actions while inhibiting undesired or inappropriate ones (Tuma, 2005). The basal ganglia encompass several interconnected regions of the brain, including the caudate and putamen in the striatum, a specialized portion of the ventral striatum called the nucleus accumbens, the globus pallidus, and the subthalamic nucleus (Tuma, 2005).
Recently, researchers have used magnetic resonance imaging (MRI) to look at different brain regions in patients with TS with controls to determine if there were any anatomical differences (Tuma, 2005). They verified previous research that indicated that the size of the basal ganglia is reduced in patients diagnosed with TS, with a 5 percent decrease in volume in the caudate nucleus. Although the change in size is relatively small, it is statistically significant (Tuma, 2005).
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In a related study, the Yale University School of Medicine studied postmortem tissue of patients who had TS and found that the distribution of different neural types was altered in patients versus controls. Specifically, there were excess neurons in the globus pallidus and fewer in the caudate nucleus, which likely disrupts the output of the basal ganglia system as a whole (Tuma, 2005).
Diagnosis and Treatment
A neuropsychological methodology test battery should include assessment of visuomotor integration ability, motor skills, spatial/perceptual abilities, and executive function (Como, 2001) This type of assessment would take less time to complete and has greater sensitivity and specificity for identifying neurocognitive deficits that are believed to be unique to TS. Given that children with TS may be particularly at risk for learning disabilities or academic deficiencies in math and written language, a complete psychoeducational examination and assessment should be conducted on any child with TS who is suspected of having such difficulties (Como, 2001). Neuropsychological functioning continues to be an important component in understanding the full neurobehavioral spectrum of TS (Como, 2001).
There is evidence from previous studies that children with Tourette syndrome of average to above-average IQ may be characterized by a profile of executive dysfunction, particularly involving timed tasks, that is not associated with the presence of a discrepancy-based learning disability (Schuerholz, Singer, & Martha, 1998). Specific evidence of cognitive slowing involving efficiency of memory search for linguistically based information has recently been described. These neuropsychological findings are consistent with neuroimaging data suggesting a frontal/subcortical involvement in Tourette syndrome (Schuerholz, Singer, & Martha, 1998).
Currently the best evidence for the functional and neuroanatomical changes in the human adolescent brain that may underlie adolescent psychopathology has been obtained using different applications of structural and functional MRI (Miguel-Hidalgo, 2013). fMRI allows investigation of neuropsychological functioning in vivo and may reveal important clues to the neuroanatomic substrates of neuropsychological impairment of learning disabilities in TS (Miguel-Hidalgo, 2013).
Previous research studies of children with Tourette syndrome with ADHD have revealed a reversal of the normal left-larger-than-right pattern of asymmetry of the lenticular region of the basal ganglia, and a larger than usual corpus callosum in children with Tourette syndrome (Schuerholz, Singer, & Martha, 1998). In children with Tourette syndrome and ADHD, brain imaging studies have further revealed a reduction in the volume of the left globus pallidus. These findings provide evidence supporting the involvement of frontal/subcortical circuits in the physiology of Tourette syndrome and ADHD, which occurs in 60-80 percent of children with TS (Bloch & Leckman, 2009).
Neuropsychological assessment helps to highlight the presence of comorbidities and characterize their severity. For example, OCD is often associated with visual processing difficulties, and ADHD is associated with deficits on neuropsychological measures of attention; both disorders frequently have associated executive function deficits (Osmon, & Smerz, 2005). Assessment and differentiation of TS and comorbid cognitive deficits is important because OCD has been found in 20 to 60 percent and ADHD in 50 to 75 percent of TS cases seen in clinical settings (Osmon, & Smerz, 2005). Furthermore, comorbid hyperactivity and impulsivity have disruptive effects on family life and are likely to lead to educational and socioemotional problems. In fact, comorbid factors are often more disruptive than the disorder itself (Osmon, & Smerz, 2005).
Because of the importance of comorbidities in considering treatment options, children with TS with cognitive deficit need to be considered candidates for ancillary treatments, such as individual educational plans and preventative measures (Osmon, & Smerz, 2005). For example, OCD symptoms tend to develop several years after the onset of tics and persist throughout adulthood, while tics ameliorate or even remit by early adulthood (Osmon, & Smerz, 2005). ADHD symptoms tend to predate tic behaviors, while other comorbidities, including mood and anxiety symptoms, onset much later than the tics and continue into adulthood (Osmon, & Smerz, 2005). Likewise, learning disabilities (LD) often do not come to the attention of diagnosticians until after the onset of tic symptoms because LD is typically identified after the mean age of TS onset (Osmon, & Smerz, 2005). As a result, neuropsychological assessment can help with insight and family education about likely future treatments and interventions.
Coping Mechanisms and Prevention Strategies
Therapeutic of TS understanding is predicated upon a deep understanding of the nature of the disease process being treated (Peterson & Cohen, 1998). Clinically identified TS is frequently accompanied by any of a broad range of comorbid conditions. Two of these conditions, OCD and ADHD have been shown to be a variant indicator of the acknowledged TS vulnerability gene (Peterson & Cohen, 1998). As a result, coping and prevention strategies must include the entire family, and not just the individual with TS.
Educating the child and family about TS natural history and prognosis positions the foundation for all other treatment interventions. By far the most frequent intervention in TS is reassurance and support, and this begins at the time of the initial evaluation (Peterson & Cohen, 1998). Following a diagnosis, educating the parents, other family members, teachers, caregivers, and other interested parties about TS can help to define appropriate expectations for the child, as well as to augment any treatment strategy (McNaught & Mink, 2011).
There is a vast variability in the clinical phenotypes of TS (McNaught & Mink, 2011). Therefore, it is likely that causation of TS could originate from several divergent factors. Various environmental and lifestyle dynamics, such as nicotine use, stress, infections and autoimmune dysfunction, especially during the prenatal, perinatal, or even during the postnatal period have been associated with the development of TS, although the exact roles these play have not been fully identified (McNaught & Mink, 2011).
Medication treatment is often utilized for TS; however, it is not always necessary, especially with those who only experience mild tics. However, it is recommended for those with moderate to severe tics, or psychiatric co-occurring disorders (McNaught & Mink, 2011). Many individuals with TS have responded favorably to a combination of specialized psychotherapy, including cognitive-behavioral therapy (CBT), professional counseling, and medication intervention (McNaught & Mink, 2011). Surgical approaches, as well as, the previously mentioned deep brain stimulation technique are currently being researched (McNaught & Mink, 2011).
Physicians treating TS usually follow a sequential approach when prescribing medications to treat tics. First-line interventions for milder tic symptoms include clonidine and guanfacine, as they have demonstrated less adverse side-effects (McNaught & Mink, 2011). Second-line pharmaceutical interventions consist of anti-psychotic medications, which have shown to be more effective. These include typical agents that are dopamine D receptor antagonists, such as haloperidol, pimozide, and fluphenazine (McNaught & Mink, 2011). Atypical agents, which are preferred over the typical agents due to increased risk of tardive dyskinesia, include risperidone and aripiprazole (McNaught & Mink, 2011). In addition, positive outcomes with methylphenidate can improve ADHD, and selective serotonin reuptake inhibitors (SSRIs), such as fluoxetine, and both typical and atypical antipsychotic medications have been shown effective in treating OCD in people with TS.
Tourette syndrome is a multifaceted neurodevelopmental disorder that occurs in up to 1 percent of children and adults globally. Tourette syndrome has no known cure. Steady progress has been made to define the complex intricacies of the clinical presentation and epidemiology of the disorder. Advances in neuroscience have contributed to the development of pharmaceutical, behavioral therapies, and surgical interventions for those affected. However for those individuals with Tourette syndrome like John, more research is needed to address unanswered questions and unmet needs for those with Tourette syndrome.
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- Wadman, R., Glazebrook, C., Beer, C., & Jackson, G. M. (2016). Difficulties experienced by young people with tourette syndrome in secondary school: A mixed methods description of self, parent and staff perspectives. BMC Psychiatry, 16, 14. http://doi.org/10.1186/s12888-016-0717-9
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