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The Lancet. Neurology Feb 2023Tourette syndrome is a chronic neurodevelopmental disorder characterised by motor and phonic tics that can substantially diminish the quality of life of affected... (Review)
Review
Tourette syndrome is a chronic neurodevelopmental disorder characterised by motor and phonic tics that can substantially diminish the quality of life of affected individuals. Evaluating and treating Tourette syndrome is complex, in part due to the heterogeneity of symptoms and comorbidities between individuals. The underlying pathophysiology of Tourette syndrome is not fully understood, but recent research in the past 5 years has brought new insights into the genetic variations and the alterations in neurophysiology and brain networks contributing to its pathogenesis. Treatment options for Tourette syndrome are expanding with novel pharmacological therapies and increased use of deep brain stimulation for patients with symptoms that are refractory to pharmacological or behavioural treatments. Potential predictors of patient responses to therapies for Tourette syndrome, such as specific networks modulated during deep brain stimulation, can guide clinical decisions. Multicentre data sharing initiatives have enabled several advances in our understanding of the genetics and pathophysiology of Tourette syndrome and will be crucial for future large-scale research and in refining effective treatments.
Topics: Humans; Tourette Syndrome; Quality of Life; Tics; Treatment Outcome; Brain
PubMed: 36354027
DOI: 10.1016/S1474-4422(22)00303-9 -
Brain & Development Aug 2015Tourette Syndrome is a disorder characterized by tics. It typically begins in childhood and often improves in adult life. Tics are best described as voluntary movements... (Review)
Review
Tourette Syndrome is a disorder characterized by tics. It typically begins in childhood and often improves in adult life. Tics are best described as voluntary movements made automatically so that volition is not ordinarily appreciated. There is frequently an urge, sometimes in the form of a specific sensory feeling (sensory tic), that precedes the tic. Patients say that they make the tic in order to reduce the urge, although shortly after the tic, the urge recurs. The sensory feeling may arise due to defective sensory habituation. Since tics relieve the urge, this can be considered rewarding, and repetition of this behavior may perpetuate the tic as a habit. Tourette Syndrome affects boys more than girls and is associated with attention deficit hyperactivity disorder and obsessive compulsive disorder. Although Tourette Syndrome often appears to be autosomal recessive in inheritance, it has been difficult to find any abnormal genes. There is a loss of inhibition in these patients and recent studies show abnormalities in brain GABA. Certainly there is also an abnormality in dopamine function and dopamine blocking agents are effective therapy. In severe drug-refractory patients, deep brain stimulation can be effective.
Topics: Brain; Female; Humans; Male; Tourette Syndrome
PubMed: 25604739
DOI: 10.1016/j.braindev.2014.11.005 -
European Child & Adolescent Psychiatry Mar 2022In 2011, the European Society for the Study of Tourette Syndrome (ESSTS) published the first European guidelines for Tourette Syndrome (TS). We now present an update of... (Review)
Review
In 2011, the European Society for the Study of Tourette Syndrome (ESSTS) published the first European guidelines for Tourette Syndrome (TS). We now present an update of the part on pharmacological treatment, based on a review of new literature with special attention to other evidence-based guidelines, meta-analyses, and randomized double-blinded studies. Moreover, our revision took into consideration results of a recent survey on treatment preferences conducted among ESSTS experts. The first preference should be given to psychoeducation and to behavioral approaches, as it strengthens the patients' self-regulatory control and thus his/her autonomy. Because behavioral approaches are not effective, available, or feasible in all patients, in a substantial number of patients pharmacological treatment is indicated, alone or in combination with behavioral therapy. The largest amount of evidence supports the use of dopamine blocking agents, preferably aripiprazole because of a more favorable profile of adverse events than first- and second-generation antipsychotics. Other agents that can be considered include tiapride, risperidone, and especially in case of co-existing attention deficit hyperactivity disorder (ADHD), clonidine and guanfacine. This view is supported by the results of our survey on medication preference among members of ESSTS, in which aripiprazole was indicated as the drug of first choice both in children and adults. In treatment resistant cases, treatment with agents with either a limited evidence base or risk of extrapyramidal adverse effects might be considered, including pimozide, haloperidol, topiramate, cannabis-based agents, and botulinum toxin injections. Overall, treatment of TS should be individualized, and decisions based on the patient's needs and preferences, presence of co-existing conditions, latest scientific findings as well as on the physician's preferences, experience, and local regulatory requirements.
Topics: Adult; Attention Deficit Disorder with Hyperactivity; Child; Female; Guanfacine; Humans; Male; Risperidone; Tic Disorders; Tourette Syndrome
PubMed: 34757514
DOI: 10.1007/s00787-021-01899-z -
International Journal of Molecular... Jan 2021Chronic tic disorder and Tourette syndrome are common childhood-onset neurological diseases. However, the pathophysiology underlying these disorders is unclear, and most... (Review)
Review
Chronic tic disorder and Tourette syndrome are common childhood-onset neurological diseases. However, the pathophysiology underlying these disorders is unclear, and most studies have focused on the disinhibition of the corticostriatal-thalamocortical circuit. An autoimmune dysfunction has been proposed in the pathogenetic mechanism of Tourette syndrome and related neuropsychiatric disorders such as obsessive-compulsive disorder, autism, and attention-deficit/hyperactivity disorder. This is based on evidence from animal model studies and clinical findings. Herein, we review and give an update on the clinical characteristics, clinical evidence, and genetic studies in vitro as well as animal studies regarding immune dysfunction in Tourette syndrome.
Topics: Animals; Autoimmune Diseases; Humans; Lymphocytes; Microglia; Neurons; Obsessive-Compulsive Disorder; Streptococcal Infections; Tourette Syndrome
PubMed: 33467014
DOI: 10.3390/ijms22020853 -
Journal of Clinical Medicine Jun 2021Tics are characterized by sudden, rapid, recurrent, nonrhythmic movement or vocalization, and are the most common movement disorders in children. Their onset is usually... (Review)
Review
Tics are characterized by sudden, rapid, recurrent, nonrhythmic movement or vocalization, and are the most common movement disorders in children. Their onset is usually in childhood and tics often will diminish within one year. However, some of the tics can persist and cause various problems such as social embarrassment, physical discomfort, or emotional impairments, which could interfere with daily activities and school performance. Furthermore, tic disorders are frequently associated with comorbid neuropsychiatric symptoms, which can become more problematic than tic symptoms. Unfortunately, misunderstanding and misconceptions of tic disorders still exist among the general population. Understanding tic disorders and their comorbidities is important to deliver appropriate care to patients with tics. Several studies have been conducted to elucidate the clinical course, epidemiology, and pathophysiology of tics, but they are still not well understood. This article aims to provide an overview about tics and tic disorders, and recent findings on tic disorders including history, definition, diagnosis, epidemiology, etiology, diagnostic approach, comorbidities, treatment and management, and differential diagnosis.
PubMed: 34204991
DOI: 10.3390/jcm10112479 -
Biomedical Journal Apr 2022Gilles de la Tourette syndrome (TS) is a common, childhood-onset psychiatric disorder characterized by persistent motor and vocal tics. It is a heterogeneous disorder in... (Review)
Review
Gilles de la Tourette syndrome (TS) is a common, childhood-onset psychiatric disorder characterized by persistent motor and vocal tics. It is a heterogeneous disorder in which the phenotypic expression may be affected by environmental factors, such as immune responses. Furthermore, several studies have shown that genetic factors play a vital role in the etiology of TS, as well as its comorbidity with other disorders, including attention deficit hyperactivity disorder, obsessive-compulsive disorder, and autism spectrum disorder. TS has a complex inheritance pattern and, according to various genetic studies, several genes and loci have been correlated with TS. Genome-wide linkage studies have identified Slit and Trk-like 1 (SLITRK1) and histidine decarboxylase (HDC) genes, and candidate gene association studies have extensively investigated the dopamine and serotonin system genes, but there have been no consistent results. Moreover, genome-wide association studies have implicated several genetic loci; however, larger study cohorts are needed to confirm this. Copy number variations, which are polymorphisms in the number of gene copies due to chromosomal deletions or duplications, are considered another significant source of mutations in TS. In the last decade, whole genome/exome sequencing has identified several novel genetic mutations in patients with TS. In conclusion, more studies are needed to reveal the exact mechanisms of underlying TS, which may help to provide more information on the prognosis and therapeutic plans for TS.
Topics: Autism Spectrum Disorder; Child; DNA Copy Number Variations; Genetic Linkage; Genome-Wide Association Study; Humans; Tourette Syndrome
PubMed: 35042017
DOI: 10.1016/j.bj.2022.01.008 -
European Child & Adolescent Psychiatry Mar 2022In 2011 a working group of the European Society for the Study of Tourette Syndrome (ESSTS) has developed the first European assessment guidelines for Tourette syndrome... (Review)
Review
In 2011 a working group of the European Society for the Study of Tourette Syndrome (ESSTS) has developed the first European assessment guidelines for Tourette syndrome (TS). Now, we present an updated version 2.0 of these European clinical guidelines for Tourette syndrome and other tic disorders, part I: assessment. Therefore, the available literature has been thoroughly screened, supplemented with national guidelines across countries and discussions among ESSTS experts. Diagnostic changes between DSM-IV and DSM-5 classifications were taken into account and new information has been added regarding differential diagnoses, with an emphasis on functional movement disorders in both children and adults. Further, recommendations regarding rating scales to evaluate tics, comorbidities, and neuropsychological status are provided. Finally, results from a recently performed survey among ESSTS members on assessment in TS are described. We acknowledge that the Yale Global Tic Severity Scale (YGTSS) is still the gold standard for assessing tics. Recommendations are provided for scales for the assessment of tics and psychiatric comorbidities in patients with TS not only in routine clinical practice, but also in the context of clinical research. Furthermore, assessments supporting the differential diagnosis process are given as well as tests to analyse cognitive abilities, emotional functions and motor skills.
Topics: Adult; Child; Comorbidity; Diagnostic and Statistical Manual of Mental Disorders; Humans; Tic Disorders; Tics; Tourette Syndrome
PubMed: 34661764
DOI: 10.1007/s00787-021-01842-2 -
Neurology May 2019To make recommendations on the assessment and management of tics in people with Tourette syndrome and chronic tic disorders. (Review)
Review
OBJECTIVE
To make recommendations on the assessment and management of tics in people with Tourette syndrome and chronic tic disorders.
METHODS
A multidisciplinary panel consisting of 9 physicians, 2 psychologists, and 2 patient representatives developed practice recommendations, integrating findings from a systematic review and following an Institute of Medicine-compliant process to ensure transparency and patient engagement. Recommendations were supported by structured rationales, integrating evidence from the systematic review, related evidence, principles of care, and inferences from evidence.
RESULTS
Forty-six recommendations were made regarding the assessment and management of tics in individuals with Tourette syndrome and chronic tic disorders. These include counseling recommendations on the natural history of tic disorders, psychoeducation for teachers and peers, assessment for comorbid disorders, and periodic reassessment of the need for ongoing therapy. Treatment options should be individualized, and the choice should be the result of a collaborative decision among patient, caregiver, and clinician, during which the benefits and harms of individual treatments as well as the presence of comorbid disorders are considered. Treatment options include watchful waiting, the Comprehensive Behavioral Intervention for Tics, and medication; recommendations are provided on how to offer and monitor these therapies. Recommendations on the assessment for and use of deep brain stimulation in adults with severe, treatment-refractory tics are provided as well as suggestions for future research.
Topics: Behavior Therapy; Counseling; Humans; Tic Disorders; Tics; Tourette Syndrome
PubMed: 31061208
DOI: 10.1212/WNL.0000000000007466 -
Tremor and Other Hyperkinetic Movements... 2023Peripherally-induced movement disorders (PIMD) should be considered when involuntary or abnormal movements emerge shortly after an injury to a body part. A close... (Review)
Review
BACKGROUND
Peripherally-induced movement disorders (PIMD) should be considered when involuntary or abnormal movements emerge shortly after an injury to a body part. A close topographic and temporal association between peripheral injury and onset of the movement disorders is crucial to diagnosing PIMD. PIMD is under-recognized and often misdiagnosed as functional movement disorder, although both may co-exist. Given the considerable diagnostic, therapeutic, and psychosocial-legal challenges associated with PIMD, it is crucial to update the clinical and scientific information about this important movement disorder.
METHODS
A comprehensive PubMed search through a broad range of keywords and combinations was performed in February 2023 to identify relevant articles for this narrative review.
RESULTS
The spectrum of the phenomenology of PIMD is broad and it encompasses both hyperkinetic and hypokinetic movements. Hemifacial spasm is probably the most common PIMD. Others include dystonia, tremor, parkinsonism, myoclonus, painful leg moving toe syndrome, tics, polyminimyoclonus, and amputation stump dyskinesia. We also highlight conditions such as neuropathic tremor, pseudoathetosis, and -associated myogenic tremor as examples of PIMD.
DISCUSSION
There is considerable heterogeneity among PIMD in terms of severity and nature of injury, natural course, association with pain, and response to treatment. As some patients may have co-existing functional movement disorder, neurologists should be able to differentiate the two disorders. While the exact pathophysiology remains elusive, aberrant central sensitization after peripheral stimuli and maladaptive plasticity in the sensorimotor cortex, on a background of genetic (two-hit hypothesis) or other predisposition, seem to play a role in the pathogenesis of PIMD.
Topics: Humans; Tremor; Movement Disorders; Dystonic Disorders; Tic Disorders; Dyskinesias; Myoclonus
PubMed: 37008994
DOI: 10.5334/tohm.758 -
European Child & Adolescent Psychiatry Mar 2022In 2011 a working group of the European Society for the Study of Tourette syndrome (ESSTS) developed the first European Guidelines for Tourette syndrome (TS) published... (Review)
Review
In 2011 a working group of the European Society for the Study of Tourette syndrome (ESSTS) developed the first European Guidelines for Tourette syndrome (TS) published in the ECAP journal. After a decade ESSTS now presents updated guidelines, divided into four sections: Part I: assessment, Part II: psychological interventions, Part III: pharmacological treatment and Part IV: deep brain stimulation (DBS). In this paper, we summarise new developments described in the guidelines with respect to assessment and treatment of tics. Further, summary findings from a recent survey conducted amongst TS experts on these same topics are presented, as well as the first European patient representative statement on research. Finally, an updated decision tree is introduced providing a practical algorithm for the treatment of patients with TS. Interestingly, in the last decade there has been a significant shift in assessment and treatment of tics, with more emphasis on non-pharmacological treatments.
Topics: Humans; Tic Disorders; Tics; Tourette Syndrome
PubMed: 34244849
DOI: 10.1007/s00787-021-01832-4