Tics and Tourette's syndrome.
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ABSTRACT:
SUBMITTER: Mittal SO
PROVIDER: S-EPMC7111125 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Publications
Tics and Tourette's syndrome are common hyperkinetic movement disorders seen mostly in the pediatric age group. Tics are defined as sudden, rapid, recurrent, nonrhythmic motor movements or vocalization, generally preceded by urge. Tourette's syndrome is defined as the presence of both motor and phonic tics for more than 1 year in patients with onset less than 18 years old. Most of these hyperkinetic movement disorders improve in adulthood. This review emphasizes the clinical pearls in the diagno ...[more]
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Project description:ObjectiveThe purpose of this study was to examine neural activity and connectivity within cortico-striato-thalamo-cortical circuits and to reveal circuit-based neural mechanisms that govern tic generation in Tourette's syndrome.MethodFunctional magnetic resonance imaging data were acquired from 13 individuals with Tourette's syndrome and 21 healthy comparison subjects during spontaneous or simulated tics. Independent component analysis with hierarchical partner matching was used to isolate neural activity within functionally distinct regions of cortico-striato-thalamo-cortical circuits. Granger causality was used to investigate causal interactions among these regions.ResultsThe Tourette's syndrome group exhibited stronger neural activity and interregional causality than healthy comparison subjects throughout all portions of the motor pathway, including the sensorimotor cortex, putamen, pallidum, and substantia nigra. Activity in these areas correlated positively with the severity of tic symptoms. Activity within the Tourette's syndrome group was stronger during spontaneous tics than during voluntary tics in the somatosensory and posterior parietal cortices, putamen, and amygdala/hippocampus complex, suggesting that activity in these regions may represent features of the premonitory urges that generate spontaneous tic behaviors. In contrast, activity was weaker in the Tourette's syndrome group than in the healthy comparison group within portions of cortico-striato-thalamo-cortical circuits that exert top-down control over motor pathways (the caudate and anterior cingulate cortex), and progressively less activity in these regions accompanied more severe tic symptoms, suggesting that faulty activity in these circuits may result in their failure to control tic behaviors or the premonitory urges that generate them.ConclusionsOur findings, taken together, suggest that tics are caused by the combined effects of excessive activity in motor pathways and reduced activation in control portions of cortico-striato-thalamo-cortical circuits.
| S-EPMC4246702 | biostudies-literature
Project description:BackgroundNeck motor tics in Tourette's syndrome can cause severe neck complications. Although addressed in a few longitudinal studies, the clinical course of Tourette's syndrome has not been quantitatively assessed. We had previously developed a method for quantifying the angular movements of neck tics using a compact gyroscope. Here, we present a follow-up study aimed at elucidating the clinical course of neck tics at both the group and individual levels.MethodsEleven patients with Tourette's syndrome from our previous study participated in the present study, and their neck tics were recorded during a 5-min observation period. The severity of neck symptoms was assessed using the Yale Global Tic Severity Scale. The peak angular velocities and accelerations, tic counts, and severity scores in our previous study (baseline) and the present study (2-year follow-up) were compared at the group and individual levels. The individual level consistency between baseline and follow-up were calculated using intra-class correlation coefficients (ICCs, one-way random, single measure).ResultsAt the group level, no significant change was observed between baseline and follow-up. At the individual level, angular velocity (ICC 0.73) and YGTSS scores (ICC 0.75) had substantial consistency over the two time points, and angular acceleration (ICC 0.59) and tic counts (ICC 0.69) had moderate consistency.ConclusionsThe intensity and frequency of neck tics did not change over time. Therefore, quantification of angular neck motor tics will aid in identifying patients with neck tics at high risk for severe neck complications.
| S-EPMC8718009 | biostudies-literature
Project description:Gilles de la Tourette syndrome (GTS) is a prototypical neuropsychiatric disorder breaking the boundary of disciplinary dualism between neurology and psychiatry. The diagnosis of GTS is clinical and, in most cases, straightforward. Tics as a hallmark of GTS are usually easy to recognize and distinguish from other movement disorders as fragmented, repetitive, exaggerated movements resembling normal motor behavior, but appearing out of context. In complex cases, knowledge on additional characteristics and signs as, for example, tic distribution, suggestibility, voluntary tic inhibition, and presence of echo- or paliphenomena might further aid clinical diagnosis. However, although defining GTS, tics are rarely the main issue. The presence of comorbidities and coexisting psychopathologies often hampers normal development and negatively affects quality of life. Their recognition and treatment is paramount. Here, we review existing literature and provide a comprehensive update on the multifarious aspects of the movement disorder and neuropsychiatry of GTS. We also provide a list of associated movement disorders known to occur in GTS patients and discuss differential diagnoses to be considered in atypical cases. We finally comment on available treatment options.
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Project description:Tourette's syndrome (TS) is a neurodevelopmental disorder characterized primarily by motor and vocal tics. Comorbidities such as attention deficit and hyperactivity disorder (ADHD) are observed in over 50% of TS patients. We applied aripiprazole in a juvenile rat model that displays motor tics and hyperactivity. We additionally assessed the amount of ultrasonic vocalizations (USVs) as an indicator for the presence of vocal tics and evaluated the changes in the striatal neurometabolism using in vivo proton magnetic resonance spectroscopy (1H-MRS) at 11.7T. Thirty-one juvenile spontaneously hypertensive rats (SHRs) underwent bicuculline striatal microinjection and treatment with either aripiprazole or vehicle. Control groups were sham operated and sham injected. Behavior, USVs, and striatal neurochemical profile were analyzed at early, middle, and late adolescence (postnatal days 35 to 50). Bicuculline microinjections in the dorsolateral striatum induced motor tics in SHR juvenile rats. Acute aripiprazole administration selectively reduced both tic frequency and latency, whereas stereotypies, USVs, and hyperactivity remained unaltered. The striatal neurochemical profile was only moderately altered after tic-induction and was not affected by systemic drug treatment. When applied to a young rat model that provides high degrees of construct, face, and predictive validity for TS and comorbid ADHD, aripiprazole selectively reduces motor tics, revealing that tics and stereotypies are distinct phenomena in line with clinical treatment of patients. Finally, our 1H-MRS results suggest a critical revision of the striatal role in the hypothesized cortico-striatal dysregulation in TS pathophysiology.
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Project description:ObjectiveTourette's syndrome (TS) is defined by 1 year of persistent motor and vocal tics. Often, the tics are refractory to conventional pharmacologic and psychobehavioral interventions. In these patients, deep brain stimulation (DBS) may be an appropriate intervention. This paper reviews different DBS targets in TS, discusses existing evidence on the efficacy of DBS in TS, highlights adverse effects of the procedure, discusses indications and patient selection as well as future directions for DBS in TS.MethodsA literature review searching PubMed database entries between 2000 and 2015. Search terms included "DBS in Tourette Syndrome", "Deep brain stimulation in Tourette syndrome," and "Surgical management of Tourette Syndrome."ResultsThough there are no universally accepted guidelines defining ideal DBS candidates for TS, age, tic severity, and treatment refractoriness are important factors to consider in patient selection. A variety of targets exist for DBS in TS, but thalamic targets and GPi are the most widely studied. Psychiatric side effects that are target specific should be monitored closely and it is possible that these adverse effects may be resolved with programing. Small randomized controlled trials support the efficacy of DBS in TS.ConclusionDBS for TS is safe and feasible, but large multi-center clinical trials are needed to determine the ideal target and optimal location within a particular target.
| S-EPMC4523794 | biostudies-literature
Project description:Tourette's syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among neuropsychiatric diseases with complex inheritance. However, the identification of definitive TS susceptibility genes remains elusive. Here, we report the first genome-wide association study (GWAS) of TS in 1285 cases and 4964 ancestry-matched controls of European ancestry, including two European-derived population isolates, Ashkenazi Jews from North America and Israel and French Canadians from Quebec, Canada. In a primary meta-analysis of GWAS data from these European ancestry samples, no markers achieved a genome-wide threshold of significance (P<5 × 10(-8)); the top signal was found in rs7868992 on chromosome 9q32 within COL27A1 (P=1.85 × 10(-6)). A secondary analysis including an additional 211 cases and 285 controls from two closely related Latin American population isolates from the Central Valley of Costa Rica and Antioquia, Colombia also identified rs7868992 as the top signal (P=3.6 × 10(-7) for the combined sample of 1496 cases and 5249 controls following imputation with 1000 Genomes data). This study lays the groundwork for the eventual identification of common TS susceptibility variants in larger cohorts and helps to provide a more complete understanding of the full genetic architecture of this disorder.
| S-EPMC3605224 | biostudies-literature
Project description:Tourette's Syndrome (TS) is a complex disorder characterized by repetitive, sudden, and involuntary movements or vocalizations, called tics. Tics usually appear in childhood, and their severity varies over time. In addition to frequent tics, people with TS are at risk for associated problems including attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, depression, and problems with sleep. TS occurs in most populations and ethnic groups worldwide, and it is more common in males than in females. Previous family and twin studies have shown that the majority of cases of TS are inherited. TS was previously thought to have an autosomal dominant pattern of inheritance. However, several decades of research have shown that this is unlikely the case. Instead TS most likely results from a variety of genetic and environmental factors, not changes in a single gene. In the past decade, there has been a rapid development of innovative genetic technologies and methodologies, as well as significant progresses in genetic studies of psychiatric disorders. In this review, we will briefly summarize previous genetic epidemiological studies of TS and related disorders. We will also review previous genetic studies based on genome-wide linkage analyses and candidate gene association studies to comment on problems of previous methodological and strategic issues. Our main purpose for this review will be to summarize the new genetic discoveries of TS based on novel genetic methods and strategies, such as genome-wide association studies (GWASs), whole exome sequencing (WES) and whole genome sequencing (WGS). We will also compare the new genetic discoveries of TS with other major psychiatric disorders in order to understand the current status of TS genetics and its relationship with other psychiatric disorders.
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Project description:BackgroundDeutetrabenazine, an inhibitor of vesicular monoamine transporter type 2 (VMAT2) depletes presynaptic dopamine and is useful in the treatment of hyperkinetic movement disorders. This study explored the safety, tolerability, and preliminary efficacy of deutetrabenazine in adolescents with moderate-to-severe tics associated with Tourette syndrome (TS).MethodsIn this open-label study of 12-18-year-old patients with TS-related tics, deutetrabenazine was titrated up to 36 mg/day over 6 weeks to adequately suppress tics without bothersome adverse effects (AEs), followed by maintenance at optimal dose for 2 weeks. An independent blinded rater assessed tic severity using the Yale Global Tic Severity Scale (YGTSS), which was the primary outcome measure. Secondary outcome measures included the TS Clinical Global Impression (TS-CGI) and TS Patient Global Impression of Change (TS-PGIC).ResultsTwenty-three enrolled patients received deutetrabenazine and had at least 1 post-baseline YGTSS assessment. The mean (SD [standard deviation]) baseline YGTSS Total Tic Severity Score (TTS) was 31.6 (7.9) and had decreased by 11.6 (8.2) points at week 8, a 37.6% reduction in tic severity (p<0.0001). The TS-CGI score improved by 1.2 (0.81) points (p<0.0001) and the TS-PGIC results at week 8 indicated that 76% of patients were much improved or very much improved compared with baseline. The mean (SD) daily deutetrabenazine dose at week 8 was 32.1 (6.6) mg (range 18-36 mg). One week after withdrawal of deutetrabenazine, the TTS scores increased by 5.6 (8.4) points, providing confirmation of the drug effect. No serious or severe adverse events were reported.DiscussionThe results of this open-label 8-week study suggest that deutetrabenazine is safe and associated with improvement in tic severity in adolescents with TS and troublesome tics.
| S-EPMC5133390 | biostudies-literature
Project description:BackgroundTourette's Syndrome (TS) is a childhood-onset movement disorder marked by the chronic presence of motor and vocal tics. Research shows that tics associated with TS tend to fade in severity for some (but not all) affected youth, though psychiatric comorbidities that commonly accompany TS may be more persistent. The long-term outcomes of individuals with TS have not been well characterized.ObjectiveTo characterize long-term clinical outcomes of individuals with TS.MethodWe conducted a long-term (25-32 years) follow-up study of 45 patients with TS who presented to the Tourette's and Tic Disorders Clinic within the Department of Psychiatry at the University of California San Francisco Medical Center, which was staffed by the first author (Thomas L. Lowe, MD [T.L.L.]), between 1983 and 1990. Baseline data were obtained via chart review, and follow-up data were obtained by self-report surveys.ResultsParticipants generally reported good psychosocial functioning, attainment of significant social milestones (academic attainment, gainful employment, marriage), and high subjective quality of life. The vast majority of participants (82%) reported improvement in their tics over time, though a significant minority continued to experience at least mild tic-related impairment (26%-40%, depending on metric). Lifetime rates of attention deficit hyperactivity disorder (ADHD) and anxiety disorders, including obsessive-compulsive disorder, were greater than in the general US population. Robust predictors of follow-up outcomes were not found.ConclusionsThese findings reflect a positive overall long-term prognosis for individuals with TS. Providing information about this prognosis at the time of diagnosis may decrease distress in affected individuals and their families. Future studies using planned longitudinal designs that address potential confounds of survey nonresponse are needed to detail long-term outcomes of individuals with TS more precisely.
| S-EPMC6335508 | biostudies-literature
Project description:Introduction: Patients with Gilles de la Tourette syndrome (GTS) may experience blocking tics (BTs) defined as recurrent, brief cessations of motor acts. The aim of this study was to assess the prevalence, age of onset, and clinical correlates of BTs in GTS patients. Materials and Methods: We performed a one-time registration study in a cohort of 195 consecutive GTS patients aged 5-66 years (mean age: 15.0 ± 9.2; 47 females, 24.1%). All patients were personally interviewed and examined. Results: At least one BT occurred at some point in the lifetime of 73 patients (37.4%) with a mean age of onset of 10.4 ± 5.9 years. BTs occurred an average of 4.8 ± 5.3 years after tic onset. The most common BT was cessation of walking (n = 59, 80.8%), followed by speech (n = 19, 26.0%), running (n = 18, 24.7%), and writing (n = 9, 12.3%). Most of the patients (n = 52, 71.2%) reported cessation of only one activity. Clinical associations of BTs included more severe tics, overall greater number of tics, and, to a lesser extent, higher age at evaluation and comorbid obsessive-compulsive disorder. Conclusions: BTs represent complex tics, early and common symptoms of GTS, and are associated with a more severe form of GTS.
| S-EPMC8201401 | biostudies-literature