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.

Tourette's syndrome in famous musicians.

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.

An 11-year-old girl with up to 19,200 coughs per day: broadening therapeutic strategies.

An 11-year-old girl was transferred to the Universidad de Chile Clinical Hospital after 2.5 months of persistent and unresponsive treatment for coughlike spasms. On arrival, the frequency of symptoms was 1 cough every 4 s, which disappeared during sleep. A multidisciplinary examination excluded allergic, viral, respiratory, epileptic, and other more usual causes of similar conditions. Two diagnoses (psychogenic cough and transient vocal tic disorder) and a mixed intervention were proposed leading to resolution in 12 days of treatment. No recurrence of symptoms was observed during several evaluations within 12 months of medical follow-up. An association between the 2 diagnoses is proposed and discussed.

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.

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.

Children and adolescents with Tourette's disorder in the USA versus Argentina: behavioral differences may reflect cultural factors.

To explore behavioral differences as possible cultural factors in presentation of psychiatric comorbidity in two clinically referred, consecutively ascertained samples of youth with Tourette's disorder (TD) from New York and Buenos Aires. Subjects were evaluated between 2002 and 2010 at the Tics and Tourette's Clinical and Research Program at the New York University Child Study Center in New York and the Interdisciplinary Center for Tourette's, Obsessive Compulsive Disorder (OCD) and Associated Disorders (CITTTA)/Institute of Cognitive Psychology (INECO) in Buenos Aires. Demographic, diagnostic, tic severity (Yale Global Tic Severity Scale; YGTSS), clinical (Child Behavior Check List-Parent version; CBCL), and global functioning (Global Assessment of Functioning; GAF) data were compared using descriptive statistics. The sample included 111 subjects ages 6-17 years, who met DSM-IV-TR diagnostic criteria for TD. Findings revealed that the BA sample (n = 35) was significantly older at initial evaluation at the tic specialty clinic, and had higher frequency of oppositional defiant disorder (ODD), mood and non-OCD anxiety disorders than the NY sample (n = 76). There were no differences in gender distribution, age at tic onset or TD diagnosis, tic severity, proportion with current diagnoses of OCD/OC behavior or attention deficit hyperactivity disorder (ADHD), CBCL internalizing, externalizing, or total problems scores, YGTSS scores, or GAF scores. The observed similarities in demographic features, clinical presentation, rates of ADHD and OCD/OCB, and global impairment may reflect similar phenomenology and illness-related characteristics of TD in these referred youth. Differences in age at initial specialty clinic evaluation and rates of ODD, mood and non-OCD anxiety disorders may need further exploration before they may be considered to reflect cultural factors. Because of these limitations (e.g. small sample size), these results can be regarded only as preliminary.

Loss of vision secondary to obsessive-compulsive disorder: a case report.

OBJECTIVE: To report a rare case of self-inflicted eye injury secondary to obsessive-compulsive disorder (OCD). METHOD: Case report. RESULTS: A 41 year-old patient had significant bilateral visual loss and blunt trauma through touching his ocular cavities due to recurrent doubts regarding their shape and urges to check the format of bones and cartilages. Differential diagnosis with tic disorders is discussed, and the patient's treatment approach is described. CONCLUSION: Although rare, severe clinical complications can occur in OCD.

Obsessive-compulsive disorder: influence of age at onset on comorbidity patterns.

PURPOSE: This study investigates the influence of age at onset of OCS on psychiatric comorbidities, and tries to establish a cut-off point for age at onset. METHODS: Three hundred and thirty OCD patients were consecutively recruited and interviewed using the following structured interviews: Yale-Brown Obsessive Compulsive Scale; Yale Global Tic Severity Scale and the Structured Clinical Interview for DSM-IV. Data were analyzed with regression and cluster analysis. RESULTS: Lower age at onset was associated with a higher probability of having comorbidity with tic, anxiety, somatoform, eating and impulse-control disorders. Longer illness duration was associated with lower chance of having tics. Female gender was associated with anxiety, eating and impulse-control disorders. Tic disorders were associated with anxiety disorders and attention-deficit/hyperactivity disorder. No cut-off age at onset was found to clearly divide the sample in homogeneous subgroups. However, cluster analyses revealed that differences started to emerge at the age of 10 and were more pronounced at the age of 17, suggesting that these were the best cut-off points on this sample. CONCLUSIONS: Age at onset is associated with specific comorbidity patterns in OCD patients. More prominent differences are obtained when analyzing age at onset as an absolute value.

Obsessive-compulsive spectrum disorders in rheumatic fever with and without Sydenham's chorea.

BACKGROUND: Recent findings suggest that acute-phase rheumatic fever (RF) patients present with higher frequencies of obsessive-compulsive disorder (OCD) and tic disorders. Until now, there have been no such studies in RF in non-acute phases. OBJECTIVE: To verify whether patients with a history of RF with or without Sydenham's chorea (SC) present with higher rates of OCD, tic disorders, and other obsessive-compulsive (OC) spectrum disorders (such as body dysmorphic disorder [BDD]) than controls. METHOD: Between February 1999 and December 2002, 59 consecutive outpatients with non-acute RF (28 with and 31 without SC) from an RF clinic and 39 controls from an orthopedics clinic were blindly assessed for OC spectrum disorders using structured interviews to assign DSM-IV diagnosis. Data were analyzed with Fisher exact and chi(2) tests to compare frequencies of disorders, and Kaplan-Meier survival analyses were used to obtain age-corrected rates. RESULTS: The age-corrected rates of tic disorders were higher in patients with RF without SC (N = 3; 14.39%) (p =.003) when compared with controls. Age-corrected rates for OC spectrum disorders (OCD, tic disorders, and BDD) combined were higher both in RF without SC (N = 4; 20.65%) and RF with SC (N = 5; 19.55%) groups than in controls (N = 1; 2.56%) (p =.048). CONCLUSIONS: RF, even in the non-acute phase, may increase the risk for some OC spectrum disorders, such as OCD, tic disorders, and BDD. These data, although preliminary, reinforce the idea that OC spectrum disorders may share common underlying pathophysiologic mechanisms and vulnerability factors with RF or that RF could trigger central nervous system late manifestations such as OC spectrum disorders.

[Gilles de la Tourette syndrome: a clinical study on 58 cases]. / Síndrome de Gilles de la Tourette: estudo clínico de 58 casos.

Gilles de la Tourette's syndrome (GTS) is a neuropsychiatric disorder with a childhood onset and is characterized by motor and vocal tics. Fifty-eight patients with GTS were evaluated during a period of three years. Thirty-six patients were male and twenty two female, with an age range of 7 to 51 years (mean 20.33 years). The male to female ratio was 1.6:1. The age of onset ranged from 3 to 15 years (mean 7.81 years). Seventy nine percent of the patients presented motor tics as the initial symptom of the disease. In terms of complex tics, coprolalia was present in 27.6% of the patients; copropraxia in 20.1%; palilalia in 20.1%; ecolalia in 27.6%; and ecopraxia in 27,6%. Associated manifestations, such as attention deficit, hyperactivity disorder and obsessive-compulsive disorder were present in 25.8% and 39.6%, respectively. Sensory phenomena were present in 54.8% of the patients.

Síndrome de Gilles de la Tourette: estudo clínico de 58 casos / Gilles de la Tourette syndrome: a clinical study on 58 cases

A síndrome de Gilles de la Tourette (SGT) é um transtorno neuropsiquiátrico, de início na infância, caracterizado pela presença de tiques motores e vocais. Cinquenta e oito pacientes com SGT foram acompanhados clinicamente durante período de três anos. Trinta e seis pacientes eram do sexo masculino e 22 do feminino, a proporçäo entre os sexos foi 1,6:1. A idade dos pacientes variou de 7 a 50 anos, média 20,33 anos. A idade de início dos sintomas variou de 3 a 15 anos, sendo a média 7,81 anos. O tique motor foi o sintoma inaugural em 79 por cento dos pacientes. Quanto aos tiques complexos, a coprolalia estava presente em 27,6 por cento; a copropraxia em 20,1 por cento; a palilalia em 20,1 por cento; a ecolalia em 27,6 por cento; e a ecopraxia em 27,6 por cento. Em relaçäo a manifestaçöes associadas, 25,8 por cento apresentavam déficit de atençäo/ hiperatividade e 39,6 por cento transtorno obsessivo-compulsivo. O fenômeno sensitivo estava presente em 54,8 por cento dos pacientes

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

Los tics en la infancia / Tics in childhood

Los tics en la infancia constituyen una manifestación patológica muy frecuente. Son movimientos involuntarios, sin finalidad concreta y favorecidos pro factores emocionales. Existen tres grupos importantes que deben ser conocidos: tics transitorios, tics motores crónicos y tics múltiples o síndrome de Gilles de la Tourette. Los criterioe diagnósticos de los tics crónicos múltiples han variado con el transcurso de los años, hasta llegar a simplificarse por motivos de mayor conocimiento etiopatogénico. Es un síndrome con una incidencia relativamente frecuente. En este artículo se hace hincapié en el núcleo patológico obsesión-compulsivo, formas monosintomáticas y en la etiopatogenia orgánica del síndrome. Se citan las nuevas investigaciones con unas perspectivas de futuro apasionantes

Aspectos diagnósticos y terapéuticos de los tics / Diagnostic and therapeutic aspects of tics

El diagnóstico diferencial de los tics se plantea en las etapas primeras del tic transitorio del niño y de la Enfermedad de Gilles de la Tourette dada su similitud clínica al inicio. La evolución con la remisión habitual y en definitiva total de las primeras y la asociación de nuevos síntomas algunos de ellos específicos como la coprolalia en las segundas permite aclarar el diagnóstico. A pesar de la preocupación familiar el tic transitorio benigno del niño no debe ser tratado a menos que sea intenso. En la enfermedad de los tics cuando la disquinesia es de grado leve no debe medicarse; si la intensidad es moderada puede iniciarse tratamento con clonazepam pero en los grados mediano e intenso es imperativo emplear tratamiento específico para evitar la importante repercusión social tanto del tic como de la coprolalia, que ocasionarán trastornos emocionales importantes con depresión psíquica y aislamiento. Si bien el haloperidol ha sido empleado como primera opción dada su eficacia, consideramos que debido a sus frecuentes, variados e importantes efectos adversos, deben utilizarse inicialmente otros fármacos de similar potencia antidisquinética y de mejor tolerancia. Proponemos en primera instancia el uso del triapride, antidisquinético específico con escasa capacidad parkinsonígena y que no induce disquinesias; si su efecto terapéutico no es suficiente creemos conveniente la administración de pimozide o flufenazina que poseen similar eficacia a la del haloperidol con mejor tolerancia. Además del uso de...(AU)