RESUMO
While the core symptoms of autism spectrum disorder include repetitive thoughts and repetitive behaviors, repetitive phenomena also occur in many other psychiatric disorders. Types of repetitive thoughts include preoccupations, ruminations, obsessions, overvalued ideas, and delusions. Types of repetitive behaviors include tics, stereotypies, compulsions, extrapyramidal symptoms, and automatisms. We provide a description of how to recognize and classify different types of repetitive thoughts and behaviors in autism spectrum disorder, providing clarity on which phenomena should be considered a core feature of autism spectrum disorder and which phenomena are indicative of a comorbid psychiatric disorder. Clinical features that can be used to differentiate types of repetitive thoughts include whether they are distressing and the degree of insight the individual has, while repetitive behaviors can be classified based on whether they are voluntary, goal-directed/purposeful, and rhythmic. We present the psychiatric differential diagnosis of repetitive phenomena within the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) framework. Careful clinical consideration of these transdiagnostic features of repetitive thoughts and behaviors can improve diagnostic accuracy and treatment outcomes, and influence future research.
Assuntos
Transtorno do Espectro Autista , Tiques , Humanos , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/terapia , Comportamento Compulsivo/diagnóstico , Comportamento Estereotipado , Diagnóstico DiferencialRESUMO
Tourette syndrome (TS) is a neurodevelopmental disturbance with heterogeneous and not completely known etiology. Clinical and molecular appraisal of affected patients is mandatory for outcome amelioration. The current study aimed to understand the molecular bases underpinning TS in a vast cohort of pediatric patients with TS. Molecular analyses included array-CGH analyses. The primary goal was to define the neurobehavioral phenotype of patients with or without pathogenic copy number variations (CNVs). Moreover, we compared the CNVs with CNVs described in the literature in neuropsychiatric disorders, including TS, to describe an effective clinical and molecular characterization of patients for prognostic purposes and for correctly taking charge. Moreover, this study showed that rare deletions and duplications focusing attention on significant genes for neurodevelopment had a statistically higher occurrence in children with tics and additional comorbidities. In our cohort, we determined an incidence of potentially causative CNVs of about 12%, in line with other literature studies. Clearly, further studies are needed to delineate the genetic background of patients with tic disorders in a superior way to elucidate the complex genetic architecture of these disorders, to describe the outcome, and to identify new possible therapeutic targets.
Assuntos
Tiques , Síndrome de Tourette , Humanos , Síndrome de Tourette/genética , Variações do Número de Cópias de DNA , Fenótipo , ComorbidadeRESUMO
BACKGROUND: Tic disorders (TD) are complex neuropsychiatric disorders frequently associated with a variety of comorbid problems, whose negative effects may exceed those of the tics themselves. In this study, we aimed to explore the sociodemographic and clinical characteristics of children with TD and behavioral problems, and develop a prediction model of behavioral problems based on the predictors under real-world conditions. METHODS: A hospital-based cross-sectional study was conducted on children with TD. Behavioral problems were surveyed using the Achenbach Child Behavior Checklist (CBCL). Sociodemographic information was collected from face-to-face interviews using an electronic questionnaire administered during the initial ambulatory visit. Clinical data were collected from medical records, and quality control was performed. The sociodemographic and clinical characteristics of patients with and without behavioral problems were statistically compared, and a nomogram prediction model was developed based on multivariate logistic regression analysis. The discriminatory ability and clinical utility of the nomogram were assessed by concordance index (C-index), receiver operating characteristic (ROC) curve, decision curve analysis (DCA) and clinical impact curve (CIC). RESULTS: A total of 343 TD cases were included in the final analysis, of which 30.32% had behavioral problems. The prediction model showed age 12-16 years, abnormal birth history, parenting pattern of indulgence, parent/close relatives with psychiatric disorders, chronic motor or vocal tic disorder (CTD)/Tourette syndrome (TS) and moderate/severe tic severity were associated with behavioral problems in children with TD. The C-index of the prediction model (nomogram) was 0.763 (95% confidence interval, 0.710 ~ 0.816). The nomogram was feasible for making beneficial clinical decisions, according to the satisfactory results of the DCA and CIC. CONCLUSIONS: A nomogram prediction model for comorbid behavioral problems in children with TD was established. The prediction model demonstrated a good discriminative ability and predictive performance for beneficial clinical decisions. This model further provides a comprehensive understanding of associated sociodemographic and clinical characteristics by visual graphs and allows clinicians to rapidly identify patients with a higher risk of behavioral problems and tailor necessary interventions to improve clinical outcomes.
Assuntos
Transtornos de Tique , Tiques , Síndrome de Tourette , Humanos , Criança , Adolescente , Estudos Transversais , Transtornos de Tique/diagnóstico , Transtornos de Tique/epidemiologia , Transtornos de Tique/psicologia , Síndrome de Tourette/epidemiologia , Tiques/epidemiologia , Tiques/psicologia , ComorbidadeRESUMO
Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder characterized by the presence of multiple motor and vocal tics. Research using resting-state functional magnetic resonance imaging (rfMRI) have found aberrant static functional connectivity (FC) and its topological properties in the brain networks of TS. Our study is the first to investigate the dynamic functional connectivity (dFC) in the whole brain network of TS patients, focusing on the temporal properties of dFC states and the temporal variability of topological organization. The rfMRI data of 36 male children with TS and 27 matched healthy controls were collected and further analyzed by group spatial independent component analysis, sliding windows approach based dFC analysis, k-means clustering analysis, and graph theory analysis. The clustering analysis identified three dFC states. Of these states, state 2, characterized by increased inter-network connections in subcortical network (SCN), sensorimotor network (SMN), and default mode network (DMN), and decreased inter-network connections between salience network (SAN) and executive control network (ECN), was found to have higher fractional window and dwell time in TS, which was also positively correlated with tic severity. TS patients also exhibited higher temporal variability of whole-brain-network global efficiency and local efficiency, and higher temporal variability of nodal efficiency and local efficiency in SCN, DMN, ECN, SAN, and SMN. Additionally, temporal variability of the efficiency and local efficiency in insula was positively correlated with tic severity. Our findings revealed abnormal temporal property of dFC states and temporal variability of topological organization in TS, providing new insights into clinical diagnoses and neuropathology of TS.
Assuntos
Tiques , Síndrome de Tourette , Humanos , Masculino , Criança , Imageamento por Ressonância Magnética/métodos , Encéfalo , Mapeamento Encefálico/métodosRESUMO
BACKGROUND: Few studies have estimated the real prevalence of neurodevelopmental disorders according to the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) in Spain and worldwide. However, there are disparate prevalence figures. We consider research in this field essential to improve early detection, secondary prevention, and health planning. METHODS: The Minikid ADHD and TICS-Mini International Neuropsychiatric Interview for Children and Adolescents, the Autism Spectrum Quotient (Children's version, AQ- Child) and a protocol of general medical questions were administered for screening purposes. The PROLEXIA battery for children aged from 4 to 6 years was used for direct assessments. Parents provided information on emotional, medical, and school aspects. The final population evaluated using these tools consisted of 291 6-year-old subjects. RESULTS: The overall risk of presenting with a neurodevelopmental disorder was 55.4%. A 23.4% risk of presenting with attention-deficit/hyperactivity disorder (ADHD) in any modality (inattentive, hyperactive-impulsive and combined), a 2.8% risk of developing autism spectrum disorder (ASD), a 30.6% risk of presenting with a learning disorder with reading difficulties, a 5.5% risk of tics and a 22.5% risk of language problems (incomprehensible language or minor language problems) were detected in the sample. The most common combination of disorders was learning and language difficulties, accounting for 6.9% of the sample. The second most frequent combination was the presence of learning and language difficulties and ADHD, accounting for 4.5% of the sample. CONCLUSIONS: The prevalence of risks detected in our sample seems to be consistent with national and international studies. A significant proportion of our sample had never been previously diagnosed (85%), so early detection programs are recommended.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Espectro Autista , Transtornos do Neurodesenvolvimento , Tiques , Adolescente , Humanos , Criança , Pré-Escolar , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/psicologia , Prevalência , Espanha/epidemiologia , Tiques/complicações , Tiques/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/terapia , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/epidemiologia , Transtornos do Neurodesenvolvimento/prevenção & controle , Comorbidade , Encaminhamento e Consulta , Atenção Primária à SaúdeRESUMO
The following case report outlines the impact of motor tics linked to Tourette's syndrome on dental development and healing following a dental injury to a maxillary central incisor. Emergency care and splinting of a mobile extruded maxillary left central incisor tooth was carried out at the local dentist on the same day as the dental trauma. A subsequent referral was made to the paediatric dental department for continued mobility of the maxillary central incisor on splint removal approximately 2 weeks later. A clinical and radiographic examination revealed shortened root length and apical root blunting associated with both maxillary anterior teeth. Further questioning revealed the likely cause of this to be related to the clenching and biting oral tics which the patient has experienced over the past 4 years. A removable splint has been fabricated for night-time wear and a mouthgaurd has been recommended for use during contact sports. Regular reviews will be conducted using a shared care approach between the patient's local dentist and the paediatric dental department.
Assuntos
Tiques , Avulsão Dentária , Fraturas dos Dentes , Síndrome de Tourette , Criança , Humanos , Tiques/etiologia , Síndrome de Tourette/complicações , Síndrome de Tourette/terapia , Incisivo/diagnóstico por imagem , Incisivo/lesõesRESUMO
BACKGROUND AND OBJECTIVES: All US Food and Drug Administration-approved medications for Tourette syndrome are antipsychotics, and their use is limited by the risk of weight gain, metabolic changes, and drug-induced movement disorders. Several small trials suggest that ecopipam, a first-in-class, selective dopamine 1 receptor antagonist, reduces tics with a low risk for these adverse events. This trial sought to further evaluate the efficacy, safety, and tolerability of ecopipam in children and adolescents with moderate to severe Tourette syndrome. METHODS: This was a multicenter, randomized, double-blind, placebo-controlled, phase 2b trial. Subjects aged ≥6 to <18 years with a baseline Yale Global Tic Severity Score Total Tic Score of ≥20 were randomly assigned 1:1 to ecopipam (n = 76) or placebo (n = 77). The primary endpoint was mean change over 12 weeks in the Yale Global Tic Severity Score Total Tic Score. The Clinical Global Impression of Tourette Syndrome Severity was the secondary endpoint. Safety and tolerability were evaluated at each study visit. RESULTS: Total tic scores were significantly reduced from baseline to 12 weeks in the ecopipam group compared with placebo (least squares mean differences -3.44, 95% confidence interval -6.09 to -0.79, P = .01). Improvement in Clinical Global Impression of Tourette Syndrome Severity was also greater in the ecopipam group (P = .03). More weight gain was seen in subjects assigned to placebo. No metabolic or electrocardiogram changes were identified. Headache (15.8%), insomnia (14.5%), fatigue (7.9%), and somnolence (7.9%) were the most common adverse events. CONCLUSIONS: Among children and adolescents with TS, ecopipam reduces tics to a greater extent than placebo, without observable evidence of common antipsychotic-associated side effects.
Assuntos
Antipsicóticos , Tiques , Síndrome de Tourette , Adolescente , Criança , Humanos , Síndrome de Tourette/tratamento farmacológico , Síndrome de Tourette/induzido quimicamente , Síndrome de Tourette/complicações , Tiques/induzido quimicamente , Tiques/complicações , Tiques/tratamento farmacológico , Resultado do Tratamento , Antipsicóticos/efeitos adversos , Método Duplo-Cego , Aumento de Peso , Índice de Gravidade de DoençaRESUMO
Our objective was to evaluate the feasibility and acceptability, and preliminary efficacy of a modified comprehensive behavioral intervention for tics (MCBIT) therapy for youth with chronic tic disorders (CTDs), co-occurring attention-deficit hyperactivity disorder (ADHD), and associated psychosocial impairment. Seventeen youth ages 10-17 with CTD and co-occurring ADHD were randomly assigned to the MCBIT group (nâ¯=â¯9) or to a control group where they received traditional comprehensive behavioral intervention for tics (CBIT) therapy (nâ¯=â¯8). Both groups received ten 55-minute weekly treatment sessions, and two 55-minute biweekly relapse prevention sessions. Sixteen of the 17 participants completed the study, and acceptability ratings in both treatment groups were high with no significant differences in expectation of improvement. The MCBIT and CBIT groups in combination showed significant improvement in tic severity, ADHD symptom severity, and tic-related impairment. Group differences were not significant. The results indicate that MCBIT treatment is feasible and acceptable for youth with CTD and ADHD, and is similarly well tolerated relative to traditional CBIT. Results were not sufficiently superior to recommend MCBIT over CBIT for this population. However, given the demonstrated benefit of behavioral treatments that target co-occurring conditions concurrently, continuing to examine novel behavioral approaches that can target tics and related conditions simultaneously and successfully is recommended.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtornos de Tique , Tiques , Síndrome de Tourette , Adolescente , Criança , Humanos , Tiques/terapia , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/terapia , Transtornos de Tique/complicações , Transtornos de Tique/terapia , Terapia Comportamental/métodos , Síndrome de Tourette/psicologiaRESUMO
BACKGROUND AND PURPOSE: In 2020, health professionals witnessed a dramatic increase in referrals of young people with rapid onset of severe tic-like behaviours. We assembled a working group to develop criteria for the clinical diagnosis of functional tic-like behaviours (FTLBs) to help neurologists, pediatricians, psychiatrists, and psychologists recognize and diagnose this condition. METHODS: We used a formal consensus development process, using a multiround, web-based Delphi survey. The survey was based on an in-person discussion at the European Society for the Study of Tourette Syndrome (ESSTS) meeting in Lausanne in June 2022. Members of an invited group with extensive clinical experience working with patients with Tourette syndrome and FTLBs discussed potential clinical criteria for diagnosis of FTLBs. An initial set of criteria were developed based on common clinical experiences and review of the literature on FTLBs and revised through iterative discussions, resulting in the survey items for voting. RESULTS: In total, 24 members of the working group were invited to participate in the Delphi process. We propose that there are three major criteria and two minor criteria to support the clinical diagnosis of FTLBs. A clinically definite diagnosis of FTLBs can be confirmed by the presence of all three major criteria. A clinically probable diagnosis of FTLBs can be confirmed by the presence of two major criteria and one minor criterion. CONCLUSIONS: Distinguishing FTLBs from primary tics is important due to the distinct treatment paths required for these two conditions. A limitation of the ESSTS 2022 criteria is that they lack prospective testing of their sensitivity and specificity.
Assuntos
Transtornos de Tique , Tiques , Síndrome de Tourette , Humanos , Adolescente , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/tratamento farmacológico , Consenso , Estudos Prospectivos , Transtornos de Tique/diagnóstico , Transtornos de Tique/tratamento farmacológicoRESUMO
Symptom comorbidity is present amongst neuropsychiatric disorders with repetitive behaviours, complicating clinical diagnosis and impeding appropriate treatments. This is of particular importance for obsessive-compulsive disorder (OCD) and Tourette syndrome. Here, we meticulously analysed the behaviour of Sapap3 knockout mice, the recent rodent model predominantly used to study compulsive-like behaviours, and found that its behaviour is more complex than originally and persistently described. Indeed, we detected previously unreported elements of distinct pathologically repetitive behaviours, which do not form part of rodent syntactic cephalo-caudal self-grooming. These repetitive behaviours include sudden, rapid body and head/body twitches, resembling tic-like movements. We also observed that another type of repetitive behaviour, aberrant hindpaw scratching, might be responsible for the flagship-like skin lesions of this mouse model. In order to characterise the symptomatological nature of observed repetitive behaviours, we pharmacologically challenged these phenotypes by systemic aripiprazole administration, a first-line treatment for tic-like symptoms in Tourette syndrome and trichotillomania. A single treatment of aripiprazole significantly reduced the number of head/body twitches, scratching, and single-phase grooming, but not syntactic grooming events. These observations are in line with the high comorbidity of tic- and compulsive-like symptoms in Tourette, OCD and trichotillomania patients.
Assuntos
Transtorno Obsessivo-Compulsivo , Tiques , Síndrome de Tourette , Animais , Camundongos , Aripiprazol/uso terapêutico , Comorbidade , Proteínas do Tecido Nervoso/genética , Transtorno Obsessivo-Compulsivo/epidemiologia , Síndrome de Tourette/genética , Camundongos Knockout , Modelos Animais de DoençasRESUMO
BACKGROUND: In clinical practice guidelines there is no consensus about the medications that should be initially offered to children and young people with Tourette's syndrome. To provide a rigorous evidence base that could help guide decision making and guideline development, we aimed to compare the efficacy, tolerability, and acceptability of pharmacological interventions for Tourette's syndrome. METHODS: For this systematic review and network meta-analysis, we searched the Cochrane Central Register of Controlled Trials, Embase, PsycINFO, PubMed, Web of Science, the WHO International Clinical Trials Registry Platform, and ClinicalTrials.gov, for published and unpublished studies from database inception to Nov 19, 2021. We included double-blind randomised controlled trials of any medication administered as a monotherapy for at least 1 week against another medication or placebo in children and adolescents (aged ≥4 years and ≤18 years), adults (>18 years), or both, diagnosed with Tourette's syndrome according to standardised criteria. We excluded studies that exclusively recruited participants with comorbid attention-deficit hyperactivity disorder or obsessive-compulsive disorder. The primary outcome was change in severity of tic symptoms (efficacy). Secondary outcomes were treatment discontinuations due to adverse events (tolerability) and for any reason (acceptability). Pharmacological interventions were examined considering medication categories and medications individually in separate analyses. Summary data were extracted and pooled with a random-effects network meta-analysis to calculate standardised mean differences for efficacy and odds ratios for tolerability and acceptability, with 95% CIs. The Confidence in Network Meta-Analysis (CINeMA) framework was used to assess the certainty of evidence. The protocol was pre-registered in PROSPERO (CRD42022296975). FINDINGS: Of the 12 088 records identified through the database search, 88 records representing 39 randomised controlled trials were included in the network meta-analysis; these 39 randomised controlled trials comprised 4578 participants (mean age 11·8 [SD 4·5] years; 3676 [80·8%] male participants) and evaluated 23 individual medications distributed across six medication categories. When considering medication categories, first-generation (standardised mean difference [SMD] -0·65 [95% CI -0·79 to -0·51]; low certainty of evidence) and second-generation (-0·71 [-0·88 to -0·54]; moderate certainty of evidence) antipsychotic drugs, as well as α-2 agonists (-0·21 [-0·39 to -0·03]; moderate certainty of evidence), were more efficacious than placebo. First-generation and second-generation antipsychotic drugs did not differ from each other (SMD 0·06 [95% CI -0·14 to 0·25]; low certainty of evidence). However, both first-generation (SMD 0·44 [95% CI 0·21 to 0·66]) and second-generation (0·49 [0·25 to 0·74]) antipsychotic drugs outperformed α-2 agonists, with moderate certainty of evidence. Similar findings were observed when individual medications were considered: aripiprazole (SMD -0·60 [95% CI -0·83 to -0·38]), haloperidol (-0·51 [-0·88 to -0·14]), olanzapine (-0·83 [-1·49 to -0·18]), pimozide (-0·48 [-0·84 to -0·12]), risperidone (-0·66 [-0·98 to -0·34]), and clonidine (-0·20 [-0·37 to -0·02]) all outperformed placebo, with moderate certainty of evidence. Antipsychotic medications did not differ from each other, but there was low to very low certainty of evidence for these comparisons. However, aripiprazole (SMD -0·40 [95% CI -0·69 to -0·12]) and risperidone (-0·46 [-0·82 to -0·11]) outperformed clonidine, with moderate certainty of evidence. Heterogeneity or inconsistency only emerged for a few comparisons. In terms of tolerability and acceptability, there were no relevant findings for any of the efficacious medication categories or individual medications against each other or placebo, but there was low to very low certainty of evidence associated with these comparisons. INTERPRETATION: Our analyses show that antipsychotic drugs are the most efficacious intervention for Tourette's syndrome, while α-2 agonists are also more efficacious than placebo and could be chosen by those who elect not to take antipsychotic drugs. Shared decision making about the degree of tic-related severity and distress or impairment, the trade-offs of efficacy and safety between antipsychotic drugs and α-2 agonists, and other highly relevant individual factors that could not be addressed in the present analysis, should guide the choice of medication for children and young people with Tourette's syndrome. FUNDING: None.
Assuntos
Antipsicóticos , Tiques , Síndrome de Tourette , Masculino , Adolescente , Criança , Adulto Jovem , Humanos , Feminino , Síndrome de Tourette/tratamento farmacológico , Antipsicóticos/uso terapêutico , Clonidina , Aripiprazol , Risperidona , Metanálise em Rede , Tiques/tratamento farmacológico , Agonistas de Receptores Adrenérgicos alfa 2 , Ensaios Clínicos Controlados Aleatórios como AssuntoRESUMO
BACKGROUND: Previous studies have shown that Tourette syndrome (TS) has an impact on academic achievements. The aim of this study was to investigate the association between the severity of tics and comorbidities and educational outcomes. METHODS: From 2005 to 2007, 395 participants were included in a large cohort (314 with TS and 81 controls) and the mean age was 12.60 ± 2.64 years. The cohort was re-examined after 4 to 8 years (median 5.6) where n = 276 participants (223 with TS and 53 controls) were included with a mean age of 18.52 ± 2.73 years. At both time points, severity of tics and the presence and severity of psychiatric comorbidity were assessed. Educational achievements were assessed through structured interviews. RESULTS: Children with TS had a lower passing rate at lower secondary and high school compared to healthy controls. More severe vocal tics were associated with fewer passing lower secondary school at a prospective level. At a cross-sectional level, more severe motor tics were associated with fewer passing high school. Tic severity only influenced children with TS without comorbidity. The severity of comorbidity was found to be associated with the educational level at a longitudinal view, but not cross-sectional. CONCLUSION: Overall, children with TS had a lower passing rate at lower secondary school and high school compared to healthy controls. We found that this difference was more likely driven by the severity of comorbidities than tic severity. It is important to be aware of academic achievement in children with TS in order to give them the right support and thereby optimize educational opportunities.
Assuntos
Tiques , Síndrome de Tourette , Criança , Humanos , Adolescente , Adulto Jovem , Adulto , Síndrome de Tourette/epidemiologia , Síndrome de Tourette/complicações , Síndrome de Tourette/psicologia , Tiques/epidemiologia , Tiques/complicações , Estudos Prospectivos , Escolaridade , ComorbidadeRESUMO
The occurrence of motor/vocal tics, that is, "extra movements" and/or "extra vocalizations," is the leading diagnostic criterion for tic disorders. We show that extra movements are common also in healthy controls, so that a surplus of movements per se is not indicative of the presence of a tic disorder. This questions the usefulness of Diagnostic and Statistical Manual of Mental Disorders, 5th edition criteria for tic disorders in clinical practice. Apparently, it is not solely a surplus of movements that defines tic disorders. Instead, movement characteristics and patterns seem to play a crucial role. ANN NEUROL 2023;93:472-478.
Assuntos
Transtornos de Tique , Tiques , Síndrome de Tourette , Humanos , Transtornos de Tique/diagnóstico , Transtornos de Tique/epidemiologia , Movimento , Manual Diagnóstico e Estatístico de Transtornos Mentais , Síndrome de Tourette/diagnósticoRESUMO
Tourette syndrome (TS) is a frequently observed developmental neuropsychological disorder occurring in children. The pathophysiology involves both genetic and environmental factors. In this review, clinical characteristics, pathophysiology, and treatment approaches based on the pathophysiology of TS are presented. The pathophysiology is the acceleration of developmental decrement of dopamine (DA) activity at the terminal of nigro-striatal (NS)-DA system causing DA D2 receptor up-ward regulation. Serotonergic neurons involving in development of the biphasic sleep-wake-rhythm, and locomotion may be involved. Pharmacological treatments constitute an important part in managing TS. Small dose of levodopa and aripiprazole showed the good effect controlling the tics, without side effects. Intervention with enhancing the day time activity and keeping the regular sleep-wake-rhythm, and encouraging locomotion are important. The data from Yoshiko Nomura Neurological Clinic for Children regarding the clinical features and outcomes, medication effects, and OCD and outcomes are shown. To discuss about the environmental factor, how the COVID-19 pandemic affected the TS patients is also presented.
Assuntos
Tiques , Síndrome de Tourette , Criança , Humanos , Pandemias , Tiques/complicações , Síndrome de Tourette/tratamento farmacológico , Síndrome de Tourette/epidemiologiaRESUMO
Most movement disorders in children are hyperkinetic. The most common type is tic disorders, which can involve motor and phonic tics and are classified as simple or complex. Motor or phonic tics that persist for more than 1 year are defined as persistent (chronic) tic disorder. Tourette syndrome can be diagnosed if a child has multiple motor tics and at least one phonic tic for more than 1 year with onset before age 18 years. Children with Tourette syndrome may have symptoms of attention-deficit/hyperactivity disorder, obsessive-compulsive disorder, depression, or behavioral disorders. Chorea can be seen as a symptom of rheumatic fever (Sydenham chorea), in children with a history of kernicterus, and in dyskinetic cerebral palsy. Chorea also may be part of an underlying metabolic or genetic condition. Dystonia is characterized by repetitive contortions and posturing of the limbs and body. It can be isolated or part of an underlying neurologic condition. Tremor can occur as a manifestation of essential tremor or can be an enhanced physiologic tremor exacerbated by drugs, illness, or stimulants. Ataxia most often is seen as a postinfectious or postvaccination acute cerebellar ataxia. Progressive ataxias are consistent with an underlying metabolic or genetic condition. Transient and developmental movement disorders include benign neonatal sleep myoclonus, jitteriness in neonates, shuddering, and stereotypies.
Assuntos
Coreia , Transtornos dos Movimentos , Tiques , Síndrome de Tourette , Criança , Recém-Nascido , Humanos , Adolescente , Coreia/diagnóstico , Coreia/terapia , Tremor , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/terapiaRESUMO
Cr(VI) is broadly applied in industry. Cr(VI) exposure places a big burden on public health, thereby increasing the risk of lung squamous cell carcinoma (LUSC). The mechanisms underlying Cr(VI)-induced LUSC remain largely elusive. Here, we report that the cancer stem cell (CSC)/tumour-initiating cell (TIC)-like subgroup within Cr(VI)-transformed bronchial epithelial cells (CrT) promotes lung cancer tumourigenesis. Mechanistically, Cr(VI) exposure specifically increases the expression levels of aldehyde dehydrogenase 1A1 (ALDH1A1), a CSC marker, through KLF4-mediated transcription. ALDH1A1 maintains self-renewal of CrT/TICs and facilitates the expression and secretion of EGF from CrT/TICs, which subsequently promotes the activation of EGFR signalling in differentiated cancer cells and tumour growth of LUSC. In addition, the ALDH1A1 inhibitor A37 and gemcitabine synergistically suppress LUSC progression. Importantly, high ALDH1A1 expression levels are positively correlated with advanced clinical stages and predict poor survival in LUSC patients. These findings elucidate how ALDH1A1 modulates EGF secretion from TICs to facilitate LUSC tumourigenesis, highlighting new therapeutic strategies for malignant lung cancers.
Assuntos
Carcinoma Pulmonar de Células não Pequenas , Carcinoma de Células Escamosas , Neoplasias Pulmonares , Tiques , Humanos , Aldeído Desidrogenase/genética , Fator de Crescimento Epidérmico , Processos Neoplásicos , Neoplasias Pulmonares/genética , Carcinogênese , Transformação Celular Neoplásica/genética , Pulmão , Família Aldeído Desidrogenase 1 , Retinal Desidrogenase/genéticaRESUMO
Imperative movements have an intermediate position between voluntary and involuntary movements and are also referred to as semi-voluntary, or induced. Their common characteristic is the urge, forcing the patient to perform an action that can have a different duration and degree of complexity - from a short twitch (with tics) to prolonged episodes of general motor restlessness (for example, akathisia or stereotypes). The ability to slow down this movement for a short or longer period of time by volitional effort is associated with the urge to make a movement, which predetermines the patient's perception of the degree of its imperativeness and arbitrariness. All motor syndromes based on an imperative need to make movements (akathisia, tics, restless legs syndrome, some levodopa-induced dyskinesias, tardive dyskinesia, compulsive disorders, stereotypes), despite their differences, can be conditionally combined by the term «akathisia spectrum disorders¼. In some cases, violent imperative movements are paradoxically combined with hypokinetic disorders, primarily with parkinsonism, which makes the discomfort experienced by patients particularly severe.
Assuntos
Transtornos dos Movimentos , Transtornos de Tique , Tiques , Humanos , Agitação Psicomotora , Transtornos dos Movimentos/etiologia , VoliçãoRESUMO
BACKGROUND: Tic disorders (TD) is a neuropsychiatric disease with twitch as the main manifestation in childhood. Jiu-Wei-Xi-Feng granules has been marketed in China for treating children with TD. As Long Gu (Os Draconis) in the composition of this Chinese patent medicine is a rare and expensive medicinal material protected by the Chinese government, therefore, we consider replacing it with Mu Li (Concha Ostreae) that has the same effect and is cheaper. This study is designed to evaluate the clinical equivalence between Jiu-Wei-Xi-Feng granules (Os Draconis replaced by Concha Ostreae) (JWXFD) and Jiu-Wei-Xi-Feng granules (original formula) (JWXFO) in children with TD (consumption of renal yin and liver wind stirring up internally syndrome). METHODS/DESIGN: This is a multicenter, randomized, double-blind, equivalence trial comparing the efficacy and safety of JWXFD and JWXFO in treating Children with tic disorders (consumption of renal yin and liver wind stirring up internally syndrome). A total of 288 patients will be recruited and randomly assigned to two groups in a 1:1 ratio. The treatment course is 6 weeks, with a 2 weeks follow-up. The primary outcome is the mean change value from baseline to 6th week by the Yale Global Tic Severity Scale total tic score (YGTSS-TTS). Secondary outcomes include total effective rate of tic, Yale Global Tic Severity Scale (YGTSS) scores and its factor scores (the degree of motor tics, phonic tics and social function damage), Clinical Global Impression-Severity scale, and TCM syndrome efficacy. DISCUSSION: The design of this study refers to a large number of similar research design points, and asked for opinions of peer experts, and finally reached a consensus. This trial will provide high-quality evidence on the clinical equivalence between JWXFD and JWXFO and provide a basis for the marketing of JWXFD. TRIAL REGISTRATION: ChiCTR2000032312 Registered on 25 April 2020, http://www.chictr.org.cn/showproj.aspx?proj=52630.
Assuntos
Transtornos de Tique , Tiques , Criança , Humanos , Tiques/terapia , Resultado do Tratamento , Transtornos de Tique/diagnóstico , Transtornos de Tique/tratamento farmacológico , Método Duplo-Cego , Síndrome , Medicamentos sem Prescrição , Ensaios Clínicos Controlados Aleatórios como Assunto , Estudos Multicêntricos como AssuntoRESUMO
BACKGROUND: Online support communities have become an accessible way of gaining social, emotional, and informational support from peers and may be particularly useful for individuals with chronic conditions. To date, there have been few studies exploring the online support available for tic disorders, such as Tourette syndrome. An exploratory study looking at users' experiences with using online support communities for tic disorders suggested that members used such communities to share experiences, information, and strategies for tic management. OBJECTIVE: To build on these preliminary findings, this study examined the provision of social support in an online community for Tourette syndrome. METHODS: Data were collected from one publicly available online support community for Tourette syndrome and tics, from its inception to December 2019, by randomly selecting 10% of posts and their corresponding comments from each year for analysis. This resulted in 510 unique posts and 3802 comments posted from 1270 unique usernames. The data were analyzed using inductive thematic analysis. RESULTS: The findings of this study suggest that users utilized the online community as a multifaceted virtual place where they could share and ask for information about tics, unload and share their feelings arising from living with Tourette syndrome, find people facing similar situations and experiences, and freely share the realities of living with Tourette syndrome. CONCLUSIONS: The results complement the findings from a preliminary study and suggest that online support communities have a potentially valuable role as a mechanism for sharing and gaining information on illness experiences from similar peers experiencing tics and can promote self-management of tics. Limitations and recommendations for future research are discussed.