Caracterización cognitiva del trastorno de Tourette con comorbilidad TDAH: un estudio de caso / Cognitive characterization of Tourette disorder with ADHD comorbidity: a case study

El trastorno de Tourette (TT) es un trastorno del neurodesarrollo que aparece en la primera infancia caracterizado por la presencia de tics fónicos y motores que dificultan la socialización y el proceso de aprendizaje escolar. El TT posee una variada comorbilidad que incluye el trastorno por déficit de atención con hiperactividad (TDAH), el trastorno obsesivo compulsivo (TOC), y dificultades de aprendizaje y del comportamiento. Presentamos el caso de un adolescente de 13 años diagnosticado con TT y con TDAH a los 6 y 10 años respectivamente. El paciente ha tenido una escolarización dificultosa y se encuentra con tratamiento médico de clozapina, aripiprazol, haloperidol y litio. Se aplica una batería neuropsicológica para evaluar la atención e inhibición, organización visuoespacial, memoria de trabajo, flexibilidad cognitiva, memoria verbal y memoria no-verbal, con el propósito de describir su perfil cognitivo de funciones ejecutivas y memoria. El estudio reveló que la atención está deteriorada pero que la inhibición se encuentra preservada; esto confirma el diagnóstico de TDAH y establece el subtipo de inatento para el caso en estudio. Las demás funciones ejecutivas evaluadas se encuentran severamente descendidas, situación que es coincidente con el perfil desarrollado por otros autores para el TT con comorbilidad TDAH. Sin embargo, no es claro si la disfuncionalidad ejecutiva se debe al TDAH que presenta, o a factores sociales y culturales derivados de las dificultades de escolarización causadas por el TT.

Tourette's disorder (TD) is a neurodevelopmental disorder that appears in early childhood characterized by the presence of phonic and motor tics that hinder socialization and the school learning process. TD has a varied comorbidity that includes attention deficit hyperactivity disorder (ADHD), obsessive compulsive disorder (OCD), learning and behavioral difficulties. We present the case of a 13-year-old adolescent diagnosed with TD and with ADHD at 6 and 10 years old respectively. The patient has had a difficult schooling and is under medical treatment of clozapine, aripiprazole, haloperidol and lithium. A neuropsychological battery is applied to evaluate the attention and inhibition, visuospatial organization, working memory, cognitive flexibility, verbal memory and non-verbal memory, with the purpose of describing its cognitive profile of executive functions and memory. The study revealed that the attention is impaired but that the inhibition is preserved; This confirms the diagnosis of ADHD and establishes the inattentive subtype for the case under study. The other executive functions evaluated are severely descended, a situation that coincides with the profile developed by other authors for TD with comorbid ADHD. However, it is not clear if the executive dysfunctionality is due to the ADHD it presents, or to social and cultural factors derived from the difficulties of schooling caused by the TD.

Tourette's syndrome and associated disorders: a systematic review / Cruzamento de patologias na síndrome de Tourette: uma revisão sistemática

Objective: To compile data on Tourette's syndrome (TS), tics and associated disorders. Methods: A systematic review of the literature was conducted using the 5S levels of organization of healthcare research evidence (systems, summaries, synopses, syntheses, studies), based on the model described by Haynes. The search keywords were Tourette, tics and comorbidity, which were cross-referenced. Studies provided by publishers and articles being processed on July 31, 2013, were also included. Results: Of all studies retrieved during the search, 64 were selected because they analyzed the epidemiology, clinical features and etiopathogenesis of TS and its comorbidities. TS is classified as a hyperkinetic movement disorder, and at least 90% of the patients have neuropsychiatric comorbidities, of which attention deficit hyperactivity and obsessive-compulsive disorders are the most common. The syndrome is clinically heterogeneous and has been associated with a dysfunction of cortico-striatal-thalamic-cortical circuits involving various neurotransmitters. Although its genetic etiology has been widely studied, other factors may be important to understand this syndrome and its associated disorders. Conclusions: TS is a neurodevelopmental disorder that results from the impact of stress factors on a vulnerable biological substrate during the critical periods of neurodevelopment. The study of TS and its comorbidities may contribute, at different levels, to the understanding of several neuropsychiatric disorders of clinical and therapeutic relevance (AU)

Objetivo: Compilar o conhecimento existente sobre a síndrome de Tourette (ST), tiques e patologias associadas. Metodologia: Foi realizada uma revisão sistemática da literatura usando os níveis 5S (sistemas, sumários, sinopses, sínteses e estudos) de organização de evidência de pesquisa em saúde, com base no modelo proposto por Haynes. Os termos de busca foram Tourette, tiques e comorbidades, completados por pesquisa por referência cruzada. Os artigos fornecidos pelos editores e aqueles a serem processados para publicação em 31 de julho de 2013 também foram incluídos. Resultados: De todos os artigos encontrados durante a pesquisa, 64 foram selecionados porque analisavam a epidemiologia, as características clínicas e a etiopatogenia da ST. A ST define-se como um distúrbio hipercinético do movimento, e pelo menos 90% dos pacientes apresentam comorbidades neuropsiquiátricas, das quais as mais comuns são a perturbação de déficit de atenção com hiperatividade e a perturbação obsessivo- -compulsiva. Esta síndrome é clinicamente heterogênea e tem sido relacionada com a disfunção dos circuitos córtico-estriado- -tálamo-corticais envolvendo vários neurotransmissores. Apesar de sua etiologia genética ter sido amplamente estudada, outros fatores podem ser importantes para entender esta síndrome e as perturbações relacionadas. Conclusões: A ST resulta de uma perturbação do desenvolvimento neurológico causado pelo impacto de fatores de estresse num substrato biológico vulnerável durante os períodos críticos do desenvolvimento neurológico. O estudo da ST e das suas comorbidades poderá contribuir, em diferentes níveis, para o entendimento de várias perturbações neuropsiquiátricas com relevância clínica e terapêutica (AU)

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...

Attitude and knowledge of high school pupils towards adolescents with special needs (Tourette's syndrome).

OBJECTIVE: To determine high school pupils' attitudes towards adolescents with special needs (for example: TS); to learn what they know about the symptomatology and the exceptional behavior of TS; and what they think about their social future. METHODS: Ninety-nine pupils participated in the study. Their mean age was 16.7 +/- 0.8 years. Forty-eight point five percent were boys, and the rest girls. They completed a questionnaire concerning knowledge and attitudes towards adolescents with special needs (diagnosed as TS). They had participated in lessons and class talks about handicapped children with psycho- behavioral symptoms. RESULTS: The scores for their knowledge were at a level of 68.9%. Half of the pupils knew and responded correctly that TS was of genetic origin; but the most important: they expressed a comprehensive and tolerant attitude towards impaired behavior in TS at a level of 55.3%. The tolerant attitude increased with advancing age and with school grades. The attitudes were more comprehensive in families suffering form their own emotional or other psychiatric difficulties. Forty-three point four percent of pupils understand and consider TS to be an emotional, behavioral and psychiatric entity. Sixty-two point six percent of pupils understand as well and believe that the disruptive behavior and outbursts in TS are involuntary and not under the adolescent's control. On the other hand, a quarter of the pupils see justification for repeated punishment of TS adolescents for their impaired behavior. Fifty-six point six percent of regular pupils were ready to develop friendship with TS classmates in spite of their unexpected and unruly behaviour. Eight-three point eight percent of pupils believe it is better to inform teachers and classmates about the impaired behavior of these TS adolescents. Concerning the future of these disabled adolescents, pupils scored a level of 44% for their optimistic beliefs about success in future life; 52% believe that in spite of all difficulties TS adolescents would be able to live an ordinary life, to raise a family and to work. CONCLUSIONS: It is crucial to improve pupils' attitudes in schools (as well as their teachers') towards adolescents with special needs (including TS). The authors recommend that TS be considered as a neuro-behavioral and psychiatric disorder; it should be considered as a disability, which calls for comprehension, (not punishment). It would also be of value to speak in classes about the handicaps and neurobehavioral limitations for example of these TS adolescents, as well as about other pupils in school with special needs, in order to behave socially correctly towards them. The final aim will be that pupils in school will learn to accept the different child and adolescent as they are.

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.

Tics y síndrome de Tourette: ¿son psicogénicos los tics? ¿Cuál es su fisiopatología y qué opciones terapéuticas existen? / Tics and Tourette syndrome: are tics of psychogenic origin? what is its pathophysiology and what are the therapeutic options

El Síndrome de Tourette es un trastorno frecuente en niños y adolescentes, y cada vez más reconocido en nuestro medio. Tiene una asociación establecida con otras comorbilidades como el síndrome de déficit atencional y el trastorno obsesivo compulsivo. En esta revisión se analizan nuevos avances en la comprensión de su fisiopatología y las nuevas alternativas terapéuticas disponibles.

Bereitschaftspotential in tic disorders: a preliminary observation.

Sensory phenomena in tic disorders such as Tourette's syndrome are known but are substantiated by only a handful of studies. In this preliminary report, we studied premonitory urge, a type of sensory phenomenon in three patients of tic disorders. Bereitschaftspotential, a movement-related cognitive potential indicative of motor preparation, was assessed in these patients. As bereitschaftspotential was observed in all our cases prior to occurrence of tics, it is speculated that tics are not entirely involuntary but are quasi-volitional in nature. Bereitschaftspotential may thus represent a neurophysiological marker of premonitory urge in tic disorders. Implications of exploring the voluntary nature of tics are discussed.

Transtorno crônico de tique (Síndrome de Gilles de la Tourette): tratamento psicoterápico ou psicofarmacológico? / Chronic tic disorder (Gilles de la Tourette Syndrome): terapic or psychopharmacologic treatment?

A síndrome de Gilles de la Tourette está classificada entre os tique crônicos, caracterizados por tique motores múltiplos e um ou mais tique vocais. Embora não precisem ser simultâneos, são mais freqüentes em homens e respondem à psicofarmacoterapia

Tc-99m-ECD SPECT Brain Imaging in Children with Tourette's Syndrome

We undertook this study to assess the patterns of regional cerebral perfusion (RCP) with SPECT using Technetium-99m-ethyl cysteinate dimer (Tc-99m-ECD) in children with Tourette's Syndrome (TS), and to compare these with the patterns in a group of normal controls. The study sample consisted of 38 children (7 to 14 years) who met the ICD-10 and DSM/IV criteria for Tourette's Syndrome, and a control group of 18 children (9 to 14 years). The Children's Depression Inventory and Maudsley Obsessional-Compulsive Questionnaire were used for assessment, and the severity of motor and vocal tics were assessed using the Goetz Rating Scale. The RCP values were significantly lower in the TS group in left caudate, cingulum, right cerebellum, left dorsolateral prefrontal, and the left orbital frontal region. A positive correlation was found between the severity of vocal tics and blood flow of mid-cerebellum, right dorsolateral prefrontal and left dorsolateral prefrontal regions. Although no depressive or obsessive patients were included in the study, the depression and obsession scores were found to be negatively correlated with all RCP values, especially in the temporal regions. Further studies are needed to explore the relationship between the hypoperfusion of certain brain areas and the underlying neurophysiology and neurobiology of patients with TS. Additional disturbances such as obsessive- compulsive symptoms and depressive symptoms should also be assessed.

Complex phonic tic and disinhibition in Tourette syndrome: case report

Tourette syndrome (TS) is a neuropsychiatric disorder characterized by a combination of multiple motor tics and at least one phonic tic. TS patients often have associated behavioral abnormalities such as obsessive compulsive disorder, attention deficit and hyperactive disorder. Coprolalia, defined as emission of obscenities or swearing, is one type of complex vocal tic, present in 8 percent to 26 percent of patients. The pathophysiology of coprolalia and other complex phonic tics remains ill-defined. We report a patient whose complex phonic tic was characterized by repetitively saying "breast cancer" on seeing the son of aunt who suffered from this condition. The patient was unable to suppress the tic and did not meet criteria for obsessive compulsive disorder. The phenomenology herein described supports the theory that complex phonic tics result from disinhibition of the loop connecting the basal ganglia with the limbic cortex

¿El Pandas es un subtipo de trastorno obsesivo compulsivo de los niños? / Is Pandas a subtype of obsessive-compulsive disorder in children?

La prevalencia del trastorno obsesivo compulsivo (TOC) en la población clínica de niños y adolescentes es de 0.2 por ciento a 5 por ciento. Aunque el TOC de los niños comparte algunas características, como la severidad y la respuesta al tratamiento, con el trastorno de los adultos, su etiología y su fisiopatología no están bien establecidas. El acrónimo PANDAS agrupa a las entidades neurológicas y psiquiátricas (el TOC y el síndrome de Tourette) que se presentan como una reacción autoinmune posterior a la infección por estreptococo. La principal característica de este grupo de enfermedades es que los pacientes presentan inicio o exacerbación de sus síntomas en forma abrupta, cuya duración coincide con la aparición de una infección por estreptococo.Los síntomas comórbidos (ansiedad, hiperactividad, trastornos de la conducta)también se presentan en forma abrupta y desaparecen al resolverse la infección. Para evaluar a estos pacientes se requiere determinar si presentan otros síntomas psiquiátricos, y descartar la presencia de enfermedades físicas concomitantes, y hacerles un examen físico completo. La determinación de antiestreptolisinas y el anticuerpo monoclonal, llamado D8/17, son de utilidad para hacer el diagnóstico. Los pacientes con PANDAS responden poco a los tratamientos tradicionalmente utilizados en el TOC. La inmunoterapia (plasmaféresis y aplicación de inmunoglobulina) parece ser una buena opción para controlar los síntomas.

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.

Transtorno de Tourette: uma revisäo / Touretteïs syndrome: a review

A síndrome de Gilles de la Tourette ou Transtorno de Tourette (TT) é um distúrbio de caráter flutuante e crônico, caracterizado por tiques motores e vocais involuntários, com início geralmente na infância e não raro requer tratamento prolongado. Sua prevalência no período de vida está estimada em 4 a 5 por 10.000, sendo mais frequente no sexo masculino. Clinicamente, o transtorno é caracterizado por tiques vocais e motores e, em alguns pacientes, por coprolalia, copropraxia, palialia e distúrbios com comportamento...

Obsessive-compulsive spectrum disorders in patients with obsessive-compulsive disorder and Tourette's syndrome

Introduction: Obsessive-Compulsive Spectrum Disorders include Obsessive-Compulsive Disorder (OCD), Tourette's Disorder (TS), Body Dysmorphic Disorder (BDD) and Trichotillomania (TTM), which, supposedly, share common psychopathological, physiopathological and genetic aspects. To date, the relation of OCD and TS is the most established. Recent studies suggest that patients with OCD and TS have a better response to serotonin reuptake inhibitors (SRI) plus neuroleptics than to SRI alone. Thus, the detection of patients with OCD and tics is important, once it can point to a different psychopharmacological approach. Similarly, the recognition of other psychiatric disorders associated to OCD could indicate important factors in treatment response. This study compares psychiatric comorbidity in patients with OCD and OCD plus TS, with the following hypotheses: 1) The group with both TS and OCD would be at significant risk for greater severity and frequency of associated disorders; 2) TTM would be more frequent in the OCD plus TS group, whereas BDD would be more frequent in the OCD group. Method: Twenty outpatients with OCD and twenty with OCD plus TS (DSM-III-R) were evaluated by the Standar Clinical Interview for the DSM-III-R (SCID) and additional modules designed by the authors for the diagnosis of TS, Chronic Motor Tics, BDD, TTM and Attention Deficit Disorder. Results: 1) Within groups: In the OCD group, the most frequent diagnoses were:...

Tiques e síndrome de Gilles de la Tourette / Tics and Gilles de la Tourette syndrome

The concept of tic was developed at the end of the XIX century, emerging from the "chaos of choreas". Tic is defined is defined as involuntary contractions of agonist and antagonist muscles in one or more parts of the body. It can be supressed by voluntary efforts for seconds or hours, followed by exacerbations. Gilles de la Tourette's original articles was published in 1885, in which he described nine patients with tics, and vocalisations. the pathogenesis of Gilles de la Tourette syndrome remained obscure. However, three factors have been considered: the neurochemical factor, related to the increased dopaminergic at the basal ganglia; the genetic factor and the non-genetic factors, for which environment more than genetic factors are involved. Pathologic examinations failed to reveal structural lesions, but PET studies showed metabolic hypofunction on the frontal, cingulate and possibly insular cortex, and on the inferior corpus striatum. The motor tics as well as the vocal tics can be simple or complex and are present in all patient. Other signs can be added to the previous tics: sensory tics, echophilia, coprophilia, obsessions, compulsions and implulsions. Diagnostic criteria of gilles de la Tourette syndrome are based on: age of onset; presence of motor and vocal tics; voluntary suppression of the movements, variation in number, type, location and severity of tics; duration of more than one year. Haloperidol is the drug of choice for the treatment of Tourette's syndrome

Obsesión-compulsión: algunas perspectivas en el diagnóstico y el tratamiento / Obsessive-compulsive disorder: some perspectives in diagnosis and treatment

Se presentan los problemas actuales relacionados con la historia, fenomenología, epidemiología, psicofarmacología y neurobiología del Trastorno Obsesivo-Compulsivo. Se enfatiza la relación del Trastorno Obsesivo-Compulsivo y el Síndrome de Gilles de la Tourette

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

Tics, obsesiones y síndrome de Gilles de la Tourette: actualización clínica / Tics, obsessions and Tourette's syndrome: a clinical update

El síndrome de La Tourette es un transtorno caracterizado por la presencia de movimiento involuntarios (tics motores) y vocalizaciones (tics vocales). Frecuentemente asociado a transtorno obsesivo compulsivo y déficit atencional. Presenta una distribución mundial pero en nuestro medio existen escasas comunicaciones. Se comunican los avances en la fisiopatología y tratamiento de este transtorno y se discute la evidencia actual que plantea la presencia de desinhibición de los circuitos neuronales córticos-subcorticales en la fisiopatología de este cuadro. El Síndrome de la Tourette constituye un verdadero paradigma para un mejor entendimiento de la estrecha relación existente entre la actividad cognitivo-emocional y la función motora. Este cuadro es bastante común y no frecuente reconocido como tal en nuestro medio