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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 -
Psychological Medicine Oct 2021Obsessive-compulsive disorder (OCD) is a psychiatric disorder with multiple symptom dimensions (e.g. contamination, symmetry). OCD clusters in families and decades of... (Review)
Review
BACKGROUND
Obsessive-compulsive disorder (OCD) is a psychiatric disorder with multiple symptom dimensions (e.g. contamination, symmetry). OCD clusters in families and decades of twin studies clearly demonstrate an important role for genetics in the etiology of the disorder.
METHODS
In this review, we summarize the genetic epidemiology and molecular genetic studies of OCD and obsessive-compulsive symptoms.
RESULTS
OCD is a heritable, polygenic disorder with contributions from both common and rare variants, including de novo deleterious variations. Multiple studies have provided reliable support for a large additive genetic contribution to liability to OCD, with discrete OCD symptom dimensions having both shared and unique genetic risks. Genome-wide association studies have not produced significant results yet, likely because of small sample sizes, but larger meta-analyses are forthcoming. Both twin and genome-wide studies show that OCD shares genetic risk with its comorbid conditions (e.g. Tourette syndrome and anorexia nervosa).
CONCLUSIONS
Despite significant efforts to uncover the genetic basis of OCD, the mechanistic understanding of how genetic and environmental risk factors interact and converge at the molecular level to result in OCD's heterogeneous phenotype is still mostly unknown. Future investigations should increase ancestral genetic diversity, explore age and/or sex differences in genetic risk for OCD and expand the study of pharmacogenetics, gene expression, gene × environment interactions and epigenetic mechanisms for OCD.
Topics: Anorexia Nervosa; Humans; Multifactorial Inheritance; Obsessive-Compulsive Disorder; Phenotype; Tourette Syndrome; Twin Studies as Topic
PubMed: 34030745
DOI: 10.1017/S0033291721001744 -
Psychiatria Polska Aug 2019Girls and women with autism are often undiagnosed, misdiagnosed or receive a diagnosis of autism at later age. This can result in adverse outcomes in their well-being,... (Review)
Review
Girls and women with autism are often undiagnosed, misdiagnosed or receive a diagnosis of autism at later age. This can result in adverse outcomes in their well-being, mental health, education, employment, and independence. The diagnosis of autism spectrum condition/disorder (hereinafter referred to as autism), with its current features linked with descriptions in the major diagnostic classification systems, is based primarily on observations and research on males. The term 'Autism Spectrum Condition' (ASC), used in this paper, has been coined by Simon Baron-Cohen and used in the professional literature for a decade to respect these individuals on the autism spectrum who feel that the term 'disorder'is stigmatizing, whereas ASC presents both the strengths of these people and difficulties they experience. The research shows that autism in females has unique symptomatology and manifests itself differently, more subtly, especially in high-functioning girls and women, i.e., those with fluent speech, average or above-average intelligence quotient. The research also shows diagnostic stereotypes and lack of required sensitivity to identify autistic females. Additionally they do not reflect the unique presentation of autism in females demonstrated by greater compensatory capacity and an ability to develop sophisticated methods of 'camouflaging'and masquerading. Furthermore, autism in females is associated with high comorbidity during adolescence including anxiety disorder, tic disorder, depression, high incidence of suicide, eating disorders, and high rates of other medical problems. Timely diagnosis, however, can reduce the difficulties that females with autism experience over their lifetime, allowing for the assessment of their needs regarding health, education, leisure, social relationships, and employment.
Topics: Adolescent; Adult; Autism Spectrum Disorder; Cognition; Depression; Disease Management; Female; Humans; Psychiatric Status Rating Scales; Severity of Illness Index; Sex Factors; Social Behavior; Stereotyped Behavior
PubMed: 31760407
DOI: 10.12740/PP/OnlineFirst/95098 -
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 -
Neurotherapeutics : the Journal of the... Oct 2020Tourette syndrome is a heterogeneous neurobehavioral disorder manifested by childhood-onset motor and phonic tics, often accompanied by a variety of behavioral... (Review)
Review
Tourette syndrome is a heterogeneous neurobehavioral disorder manifested by childhood-onset motor and phonic tics, often accompanied by a variety of behavioral comorbidities, including attention deficit and obsessive compulsive disorder. Treatment must be tailored to the needs and goals of the individual patients and their families. All patients should receive education on the condition and, if possible, engage behavioral therapy targeted towards tics and/or comorbidities. Pharmacological therapies, such as alpha agonists, topiramate, and vesicular monoamine transport type 2 inhibitors, are generally used as first-line therapies in patients with troublesome tics that are not controlled by behavioral therapy or when the latter is not available or accessible. Botulinum toxin injections can be used in patients with bothersome focal tics. Second-line therapy includes antipsychotics, such as fluphenazine, aripiprazole, risperidone, and ziprasidone. These medications are generally efficacious but carry the risk of metabolic syndrome, tardive dyskinesia, and other side effects. Much more research is needed before novel therapies such as cannabis-derived products or transcranial magnetic stimulation can be recommended. There is promise in ongoing clinical trials with D1 receptor antagonist ecopipam and other experimental therapeutics. Patients with tics that are refractory to conventional treatments may be candidates for deep brain stimulation, but further studies are needed to determine the optimal target selection.
Topics: Adrenergic alpha-2 Receptor Agonists; Antipsychotic Agents; Behavior Therapy; Deep Brain Stimulation; Disease Management; Humans; Medical Marijuana; Randomized Controlled Trials as Topic; Tics; Tourette Syndrome; Transcranial Magnetic Stimulation; Treatment Outcome
PubMed: 32856174
DOI: 10.1007/s13311-020-00914-6 -
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