Treatments for Tourette syndrome in children and young adults: a systematic review / Tratamento da síndrome de Tourette em crianças e jovens adultos: uma revisão sistemática

INTRODUCTION: Tourette's Syndrome (TS) is a neurodevelopmental disorder characterized by motor and / or vocal tics for more than 12 months. TS affects about 0.8% of pediatric patients and is associated with great functional impairment and psychological distress. The present study aims to list and compare the effectiveness of therapies used in children and young people with TS. METHODS: PubMed / MEDLINE, Cochrane Library, ScienceDirect, SciELO and Lilacs were used from September 2020 to April 2021 to search for randomized clinical trials with pharmacological, behavioral, physical or alternative interventions for tics in children and young people with ST. RESULTS: 13 clinical trials were included, of which six pharmacological, six behavioral and one of other conformation. The global score on the Yale Global Tic Severity Scale showed evidence in favor of Habit Reversal Training (HRT) and Comprehensive Behavioral Intervention for Tics (CBIT). Evidence from two studies suggests that antipsychotic medications improve tic scores. Evidence from other interventions has shown no conclusive benefit. CONCLUSIONS: The present study identified benefits with the use of antipsychotics. The study also found that HRT and CBIT showed improvement in reducing the severity of tics, in addition to not having any adverse effects. These therapies showed significant clinical improvement, but there is no comparison between the use of these isolated approaches in relation to their use associated with medications. In view of the different forms of therapy, further studies are needed to identify the effectiveness and the profile of adverse effects of these interventions.

INTRODUÇÃO: A Síndrome de Tourette (ST) é um distúrbio do neurodesenvolvimento caracterizado por tiques motores e/ou vocais por mais de 12 meses. A ST afeta cerca de 0,8% dos pacientes pediátricos e associa-se a grande comprometimento funcional e sofrimento psíquico. O presente estudo tem como objetivo listar e comparar a eficácia das terapias utilizadas em crianças e jovens com ST. MÉTODOS: PubMed/MEDLINE, Cochrane Library, ScienceDirect, SciELO e Lilacs foram usados desde setembro de 2020 até abril de 2021 para a busca de ensaios clínicos randomizados com intervenções farmacológicas, comportamentais, físicas ou alternativas para tiques em crianças e jovens com ST. RESULTADOS: 13 ensaios clínicos foram incluídos, dos quais seis farmacológicos, seis comportamentais e um de outra conformação. A pontuação global na Yale Global Tic Severity Scale, apresentou evidências a favor do Treinamento de Reversão de Hábito (TRH) e Intervenção Comportamental Abrangente para Tiques (ICAT). As evidências de dois estudos sugerem que medicamentos antipsicóticos melhoram os escores de tiques. Evidências de outras intervenções não mostraram nenhum benefício conclusivo. CONCLUSÕES: O presente estudo identificou benefícios com o uso do antipsicóticos. O estudo também identificou que a TRH e a ICAT apresentaram melhora na redução da gravidade dos tiques, além de não apresentarem efeitos adversos. Essas terapias mostraram importante melhora clínica, mas não há comparação entre o uso dessas abordagens isoladas em relação ao seu uso associado com medicamentos. Diante das diferentes formas de terapia, mais estudos são necessários para identificar a eficácia e o perfil de efeitos adversos dessas intervenções.

Tourette's syndrome in famous musicians / A síndrome de Tourette em músicos famosos

Tourette's syndrome (TS) is defined as a disorder characterized by multiple motor tics and at least one vocal tic that have lasted for not less than one year. It is a relatively complex neurobehavioral disorder, in which patients may present with coexistent attention deficit hyperactivity disorder, obsessive-compulsive disorder or other behavioral comorbidities. The musical genius Wolfgang Amadeus Mozart (1756-1791) and the rock star Kurt Cobain (1967-1994) may both have suffered from TS, and some contemporary musicians have had their clinical condition confirmed as TS. Our hypothetical diagnosis of TS in Mozart and Cobain is based on the presence of tics and psychiatric comorbidities. In contemporary musicians, such as Michael Wolff, Nick Van Bloss and James Durbin, TS has often only been diagnosed after a considerable delay. This delay in diagnosis and the controversies surrounding the clinical case of Mozart show how difficult a confirmatory diagnosis of this complex disease is.

A síndrome de Tourette (TS) é definida como uma desordem caracterizada por múltiplos tiques motores e pelo menos um tique vocal com duração de ao menos um ano. TS é um distúrbio neuro-comportamental relativamente complexo, em que os pacientes teriam coexistente transtorno de déficit de atenção e hiperatividade, transtorno obsessivo-compulsivo, distúrbio de comportamento ou outras co-morbidades. Talvez sejam casos de TS o do gênio musical Wolfgang Amadeus Mozart (1756-1791) e da estrela do rock, Kurt Cobain (1967-1994). Alguns músicos contemporâneos tiveram a sua condição clínica confirmada como TS. Em conclusão, os diagnósticos hipotéticos de TS nos casos de Mozart e Cobain podem ter embasamento na possibilidade de tiques e comorbidades psiquiátricas. Observou-se um atraso de diagnóstico de TS em músicos contemporâneos (Michael Wolff, Nick Van Bloss, James Durbin). Essa situação e as controvérsias sobre a clínica no caso de Mozart mostram a dificuldade para confirmação do diagnóstico dessa complexa doença.

Phenomenology and natural history of Tourette syndrome: brief summary or research / Fenomenologia e história natural da síndrome de Tourette: breve resumo da pesquisa

The phenomenology of Tourette syndrome is complex. Although overt motor and vocal tics are the defining features of Tourette syndrome, many individuals report experiencing sensory "urges," which are often difficult to describe. The natural history of this condition is also variable, with some individuals experiencing a marked reduction in tics by the end of the second decade of life while others go on to have a lifelong condition. The aim of this thesis was three-fold: (1) to develop a valid and reliable clinical rating instrument; (2) to investigate the sensory phenomena associated with Tourette syndrome; and (3) to document the course of tic severity over the course of the first two decades of life. Each of these three studies involved groups of patients with Tourette syndrome or a chronic tic disorder and each of these studies has been published in a peer-reviewed journal. The Yale Global Tic Severity Scale (YGTSS) has excellent psychometric properties that have been independently replicated. It has also emerged as the most widely used clinician-rated tic severity scale in randomized clinical trials around the world. Sensory phenomena, particularly premonitory urges, are commonly reported among individuals with Tourette syndrome by the age of 10 years. There is considerable overlap with the sensory phenomena described by individuals with Obsessive-Compulsive Disorder. Tics usually have their onset in the first decade of life. They then follow a waxing and waning course and a changing repertoire of tics. As documented in the third study, for a majority of patients the period of worst tic severity usually falls between the ages of 7 and 15 years of age, after which tic severity gradually declines. This falloff in tic symptoms is consistent with available epidemiological data that indicate a much lower prevalence of Tourette syndrome among adults than children. This decline in tic severity has been confirmed in subsequent studies...

A fenomenologia da síndrome de Tourette (ST) é complexa. Apesar de tiques motores e vocais serem as características definidoras da síndrome, muitas pessoas relatam ter urgências premonitórias (fenômenos sensoriais) de difícil descrição. A história natural da ST também é variável, com alguns indivíduos que experimentam uma redução acentuada nos tiques até o final da segunda década de vida, enquanto outros permanecem com sintomas ao longo de toda a vida adulta. Os objetivos principais desta tese são três: (1) desenvolver um instrumento de avaliação clínica com boa validade e confiabilidade para ST; (2) investigar os fenômenos sensoriais (FS) associados a ST; e (3) documentar o curso da gravidade dos tiques durante as duas primeiras décadas de vida. Para atingir esses objetivos incluíram-se grupos de pacientes clinicamente bem caracterizados e de artigos científicos publicados em periódicos internacionais de alto impacto. A Escala de Gravidade Global de tiques de Yale (YGTSS) apresentou excelentes propriedades psicométricas, o que foi replicado em estudos independentes. Também emergiu como a escala de gravidade mais utilizada em ensaios clínicos randomizados para ST em todo o mundo. Os FS, particularmente urgências premonitórias, são comumente relatados entre os indivíduos com ST com a partir da idade de 10 anos. Há uma sobreposição considerável com os FS descritos por indivíduos com Transtorno Obsessivo- Compulsivo (TOC). Os tiques costumam ter seu início na primeira década de vida e, então, seguem um curso flutuante com mudança do seu repertório. Conforme documentado no terceiro estudo, para a maioria dos pacientes, o período de pior gravidade dos tiques ocorre geralmente entre 7 e 15 anos de idade, após o qual a gravidade declina gradualmente. Esta queda dos sintomas de tiques é consistente com os dados epidemiológicos disponíveis que indicam uma prevalência muito menor de ST entre adultos do que crianças. Em resumo, há um esforço para incremento...

Tourette and tic disorders in ICD-11: standing at the diagnostic crossroads

This article reflects discussion by the WHO ICD-11 Working Group on the Classification of Obsessive-Compulsive and Related Disorders. After reviewing the historical classification of tic disorders, this article discusses their placement in ICD-11. Existing problems with diagnostic labels and criteria, appropriate placement of the tic disorders category within the ICD-11 system, and pragmatic factors affecting classification are reviewed. The article ends with recommendations to (a) maintain consistency with the DSM-5 diagnostic labels for tic disorders, (b) add a minimum duration guideline for a provisional tic disorder diagnosis, (c) remove the multiple motor tic guideline for the diagnosis of Tourette disorder, and (d) co-parent the tic disorder diagnoses in the disorders of the nervous system and the mental and behavioral disorders categories, with secondary co-parenting in the obsessive-compulsive and related disorders and neurodevelopmental disorders sections.

Aproximación a la terapia cognitivo conductual como herramienta terapéutica en el Síndrome de Tourette / Approximation to behavioral therapy for Tourette syndrome management

El síndrome de Tourette (ST) es una patología del espectro neuropsiquiátrico que se caracteriza por la presencia de múltiples tics tanto motores como vocales. Su peak ocurre entre los 8 -12 años de edad y tienden a disminuir en la vida adulta. Un 20 por ciento de los pacientes no presentará mejoría de su sintomatología al llegar a la adultez. La constelación de síntomas que se presentan durante el transcurso de la enfermedad, resulta frustrante y poco predecible para los pacientes y sus padres, quienes ya poco entienden de esta patología. Uno de los desafíos que representa el ST para los tratantes es abarcar al paciente en todas sus dimensiones y lograr un tratamiento integral y multidisciplinario. La terapia o intervención conductual (TC) logra centrarse en este aspecto y obtener una mirada global del problema. Dentro de los subgrupos de TC, el “Habit Reversal” plantea que el ST se modula constantemente por el ambiente, lo que clínicamente se traduce en un aumento o disminución de la urgencia por realizar los tics, por lo tanto al manejar el entorno y la urgencia mediante una respuesta competitiva, los tics deberían disminuir. Mediante diferentes estudios se ha demostrado la efectividad de la terapia y su duración en el tiempo, por lo que se la ha validado como una nueva alternativa terapéutica, que puede realizarse o no en conjunto con la terapia farmacológica.

Tourette's syndrome (ST) is a pathology of the neuropsychiatric spectrum characterized by the presence of multiple motor and vocal tics. Its peak occurs between 8 to 12 years old and tend to decrease in adult life. About 20 percent of patients presented no improvement in their symptoms in adulthood. The constellation of symptoms that occur during the course of the disease is unpredictable and frustrating for patients and their parents, who already have little understanding of this pathology. One of the challenges of the ST for caregivers is to embrace the patient in all its dimensions and achieve their treatment in a comprehensive and multidisciplinary way. Therapy or behavioral intervention (TC) does focus on this aspect and get an overall view of the problem. Within subgroups of TC, the "Habit Reversal" suggests that the ST is constantly modulated by the environment, which translates clinically in an increase or decrease in the urge to perform tics. Therefore managing the environment and urgency by a competitive response, tics should decrease. Various studies have demonstrated the effectiveness of the therapy and its duration in time, so that it has been validated as a new therapeutic alternative, which can be done or not in conjunction with drug therapy.

Síndrome de Gilles de la Tourette associada ao transtorno de déficit de atenção com hiperatividade: resposta clínica satisfatória a inibidor seletivo da recaptura de serotonina e metilfenidato / Tourette syndrome associated with attention-deficit hyperactivity disorder: satisfactory clinical response to selective serotonin reuptake inhibitor and methylphenidate

A Síndrome de Gilles de la Tourette (SGT), caracterizada pela presença de tiques motores e vocais, apresenta elevada associação com transtorno obsessivo-compulsivo (TOC) e transtorno de déficit de atenção com hiperatividade (TDAH). Essas condições frequentemente causam mais prejuízo aos pacientes do que os tiques, propriamente. Relata-se o caso clínico de um paciente com SGT e comorbidade com TDAH e TOC. O tratamento com inibidor seletivo de recaptura de serotonina (ISRS) e metilfenidato promoveu melhora significativa dos sintomas de TDAH, sintomas compulsivos e tiques.

Tourette Syndrome (TS), characterized by motor and vocal tics, is often associated with obsessive compulsive disorder (OCD) and attention-deficit hyperactivity disorder (ADHD). These associated conditions frequently cause more impairment in patients than tics themselves. We report the case of TS with comorbid ADHD and OCD. Treatment with selective serotonin reuptake inhibitor and methylphenidate, led to significantly improvement of ADHD symptoms, compulsive symptoms and tics.

Intervenção educativa na perturbação Gilles De La Tourette / Educational intervention in Gilles De La Tourette Syndrome

A perturbação Gilles de la Tourette é um distúrbio neuropsicológico crónico, que resulta de anomalias ao nível dos neurotransmissores cerebrais. É caracterizada por fenómenos compulsivos, que originam tiques motores e vocais e origina problemas a nível social, emocional e particularmente na adaptação e integração no meio escolar. Este artigo procura promover um melhor conhecimento desta perturbação, da sintomatologia associada e essencialmente elaborar estratégias de intervenção educativa destinadas aos diversos agentes educativos, de modo a promover uma integração escolar e social mais eficiente.

Gilles de la Tourette syndrome is a neuropsychological condition, caused by multiple disorders in brain neurotransmitters. It is characterized by compulsive phenomena that give rise to motor and vocal tics, resulting in social and emotional problems, especially in integration and adaptation in school. The present article aims to improve knowledge of this disorder, including related symptoms, as well as to develop educational intervention strategies for various educational agents, so as to foster more efficient school and social integration.

Tourette's syndrome: old syndrome, new insights and new treatment.

Recognized for over 300 years, Tourette's syndrome was originally ascribed as a rare bizarre psychogenic illness. Because of recent advances in research on Tourette's syndrome, this disorder is not only the rarity once thought, but also a common, biological, genetic disorder with a spectrum of neurobehavioral manifestations that wax and wane during its entire natural course. In addition to standard neuroleptics, much progress in Tourette's syndrome research has widened its pharmacotherapy to include alpha2-adrenergic agonists and atypical neuroleptics as well as behavioral modification, adjustments, and different surgical approaches. Despite a myriad of reports, there are still many unresolved facts, which stimulate research into the underlying mechanisms of this complex neuropsychiatric disorder. We anticipate that continued success of research in this area will lead to molecular insights, identification of vulnerable genes, and eventually novel therapies that can target all aspects of this complex disorder.

Tourette's syndrome: old syndrome, new insights and new treatment.

Recognized for over 300 years, Tourette's syndrome was originally ascribed as a rare bizarre psychogenic illness. Because of recent advances in research on Tourette's syndrome, this disorder is not only the rarity once thought, but also a common, biological, genetic disorder with a spectrum of neurobehavioral manifestations that wax and wane during its entire natural course. In addition to standard neuroleptics, much progress in Tourette's syndrome research has widened its pharmacotherapy to include alpha2-adrenergic agonists and atypical neuroleptics as well as behavioral modification, adjustments, and different surgical approaches. Despite a myriad of reports, there are still many unresolved facts, which stimulate research into the underlying mechanisms of this complex neuropsychiatric disorder. We anticipate that continued success of research in this area will lead to molecular insights, identification of vulnerable genes, and eventually novel therapies that can target all aspects of this complex disorder.

Tourette: por dentro da síndrome / Tourette: within the syndrome

A síndrome de Tourette (ST) é uma patologia de comprometimento psicossocial que acarreta alterações significativas na vida dos seus portadores e respectivos familiares. Este artigo aborda diversos aspectos relacionados a esta doença, incluindo etiologia, epidemiologia, aspectos neurobiológicos, quadro clínico, diagnóstico, patologias associadas e tratamento (clássico e alternativo). Neste trabalho, ainda comparamos a ST com outras doenças, envolvendo tiques e mencionamos as associações de apoio aos pacientes portadores de ST, que auxiliam no tratamento e na socialização do paciente afetado.

As bases neurobiológicas do transtorno obsessivo-compulsivo e da síndrome de Tourette / The neurobiological bases of obsessive-compulsive disorder and Tourette syndrome

OBJETIVO: Revisar as teorias e evidências das bases neurobiológicas do transtorno obsessivo-compulsivo e da síndrome de Tourette. FONTES DOS DADOS: Revisão dos estudos que investigam a neuroanatomia, neuroimagem, genética e imunologia desses transtornos. SíNTESE DOS DADOS: Os comportamentos ritualísticos e pensamentos repetitivos têm sido cada vez mais estudados em nosso meio. As definições dessas entidades formam um continuum espectral de sintomas com prevalência significativa na população. CONCLUSÕES: Os avanços das neurociências possibilitaram a exploração dos aspectos genéticos do sistema nervoso central e seu funcionamento, fornecendo novas perspectivas para o tratamento de pacientes com transtorno obsessivo-compulsivo e síndrome de Tourette.

Coréia de Sydenham: um modelo de transtorno neuropsiquiátrico auto-imune? / Sydenham Chorea: a model for autoimmune neuropsychiatric disorder ?

A coréia de Sydenham (CS) é uma manifestação maior de febre reumática, doença autoimmune pós-estreptocóccica.A CS é caracterizada por uma série de sintomas neuropsiquiátricos, incluindo movimentos anormais (coréia e tiques) e comportamento obsessivo-compulsivo. Alguns desses sintomas são também observados na síndrome de Tourette e no transtorno obsessivi-compulsivo. O termo PANDAS(pediatric autoimmune neuropsychiatric disorder associated with streptococcus) foi introduzido para descrever um grupo de pacientes com esses diagnósticos em que o início dos sintomas ou a exacerbação dos mesmos correlacionam-se co infecção estreptocócica. A identificação de pacientes con síndrome de Tourette e transtorno obsessivo-compulsivo possivelmente secundários à infecção estreptocóccica pode ter implicações terapêuticas significativas

Tics and Tourette syndrome: clinical evaluation of 44 cases

We evaluated 44 patients with tics and Tourette's syndrome (TS) emphasising the age of onset of symptoms, sex, classification and localization of tics, associated symptoms and signs and comorbidities. Thirty-three patients (75.2 percent) had TS defined criteria whereas 10 (22.7 percent) had chronic motor and/or vocal tics. Simple motor tics were found in 43 cases (97.7 percent), mainly affecting the eyes (43.2 percent), mouth (43.2 percent), face (34.1 percent). Simple vocal tics occurred in 33 (75 percent). Coprolalia was found in just 6 cases (13.6 percent) and copropraxia in just 2 (4.5 percent). Obsessive compulsive disorder and/or symptoms were found in 26 cases (59.1 percent) and attention deficit in 17 (38.6 percent). Eighteen patients (40.9 percent) had other disorders, such as alcoholism, tabagism, drug abuse, affective disorders, anxiety, sleep and learning disorders. The data obtained are similar to those found by other authors. We highlight the low frequency of coprolalia, as well as the associated neuropsychiatric disorders

Sindrome de Gilles de la Tourette: relato de caso / Gilles de la Tourette syndrome: case report

Os autores relatam o caso de um escolar do sexo masculino, admitido no Ambulatorio Geral de Pediatria do Instituto da Crianca - HCFMUSP com quadro de tiques motores, alguns ruidos vocais e comportamentos bizarros e de natureza obsessivo-compulsiva, caracterizando a sindrome de Gilles de la Tourette...

Você sabia que tem (ou já teve ou vai ter) um paciente com Síndrome de Gilles de la Tourette? / Did you have a patient with Tourette's Syndrome?

O autor faz um alerta quanto à Síndrome de Gilles de la Tourette, que apesar de descrita em 1885 (Tourette apud Bronhein, 1991), ainda hoje é pouco conhecida e diagnosticada. O profissional em Fonoaudiologia, ao avaliar crianças com dificuldades de linguagem (falada ou escrita), pode encontrar tiques (motores ou fônicos) e considerá-los como fazendo parte de distúrbios emocionais. Alguns tiques podem estar relacionados com este transtorno progressivo e de ocorrência familiar que, potencialmente, pode ser controlado com medicamentos, pois depende de alteraçöes orgânicas situadas nos núcleos ou gânglios da base. É dever de todos que trabalham com crianäas, conhecer e saber reconhecer patologias que podem ser controladas, total ou parcialmente, com tratamento específico.

Enfermedad de los tics: síndrome de Gilles de la Tourette: características clínicas de 70 pacientes / Gilles de la Touretteïs syndrome: clinical review and analysis of 70 chilean patients

Background: Tourette's syndrome is a childhood-onset hereditary neurobehavioural disorder believed to occur without geographical restrictions. Although there have been reports of this disorder worldwide just a few are from Latin America. Aim: To report a preliminary experience with a series of 70 patients and to review recent advances in this disorder. Patients and Method: We reviewed patients seen in pediatric and adult neurological clinics in Santiago, Chile, all of whom fulfilled clinical diagnostic criteria for Tourette Syndrome. Results: Seventy patients were studied, 54 males (77.1 percent) and 16 females (22.8 percent), their mean age at first evaluation was 13.6 years (range 2-46). The mean age of onset of symptoms was 6.4 (range 2-20), the mean time of follow-up was 3 years. Fifty-eight patients showed simple motor tics (blinking, facial grimacing, shoulder shrugging), whereas dystonic tics like head jerking were seen in 38 patients, torticollis in 6 and oculogyric movements in 2. Complex motor tics like jumping, antics, trunk bending and head shaking were present in 16 subjects. Vocal tics were predominantly of the simple type: sniffing, throat clearing, blowing, and whistling. Complex vocal tics were seen in 12 patients, five cases showed palilalia, 3 echolalia and only six displayed coprolalia (8.5 percent). Tics were of mild to moderate severity in most patients. Obsessive-compulsive disorder was observed in 22.8 percent and attention deficit and hyperactivity disorder were present in 35.7 percent. Forty-five patients (64.2 percent) had a first degree relative with tics, nine patients (12.8 percent) had a family history of obsessive-compulsive disorder. The current evidence involving desinhibition of cortico-striatum-thalamic-cortical neuronal circuits in the pathogenesis of this disorder is analyzed. Conclusion: Our report supports the recognized clinical homogeneity and genetical basis of TouretteÕs syndrome regardless of geographical region and ethnic origin

Trastorno por tics: G. de la Tourette

Se trata de una revisión del estado actual del conocimiento sobre la enfermedad de Gilles de la Tourette, un transtorno por tics, descrito desde finales del siglo anterior. Se presentan los criterios de diagnóstico, los principales instrumentos de encuesta especilizada, la historia natural de la enfermedad, los factores de agravamiento y de mejoría. Un énfasis particular recibe la presentación del conocimiento sobre los factores alterados del funcionamiento macro y microscópico del sistema nervioso central, la evidencia de herencia y la forma como los factores residuales de la infección por estreptococo se asocian a esta enfermedad. Finalmente se analizan los factores de tratamiento. La revisión se basó en una búsqueda de artículos Medline desde 1980 hasta la fecha, que se seleccionaron por el diseño y la penitencia de los aportes.

El síndrome de Gilles de la Tourette en pediatría / Gilles de la Tourette's syndrome in pediatrics

Muchos niños presentan en algún momento de su vida movimientos involuntarios o tics, los cuales preocupan al paciente y a su familia. La gran mayoría de ellos es de carácter transitorio y se puede manejar por el pediatra. Sin embargo, los tics del síndrome de Gilles de la Tourette son complejos y a veces socialmente invalidantes, por lo que es necesario conocer su sintomatología y posibilidades terapéuticas por el especialista