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...

Neurological disorders in children and adolescents.

OBJECTIVE: To ascertain the prevalence of active epilepsy, febrile seizures (FS), cerebral palsy (CP) and tic disorders (TD) in aged 19 years or less. METHODS: This was a cross-sectional observational study conducted as a two-stage door-to-door survey of a stratified randomly selected population in 2003-04. Trained field workers screened the population followed by case examination by the field neurologist. RESULTS: A total of 16979 (male 8898, female 8081) subjects aged <or= 19 years were surveyed. The prevalence rates per 100,000 population of active epilepsy, FS, CP and TD with 95% confidence intervals are 700.87 (580.60-838.68), 1113.14 (960.07-1283.59), 282.70 (CI 208.43-374.82) and 35.34 (12.96-76.92) respectively. Active epilepsy prevalence shows a rising trend and that of other disorders a declining trend with age. Of the epileptics who had brain CT scans, 23.4% showed single or multiple lesions suggestive of neurocysticercosis. Regarding treatment, 23.5% of the epileptics never received any antiepileptic drugs. Among those with history of FS, 9.5% developed epilepsy later on. The prevalence of FS among slum dwellers is lower than in the non-slum population. Among CP cases, 39.6% gave history of birth anoxia, 16.7% kernicterus and 31.3% epilepsy. Prevalence of CP is significantly associated with lower education status. CONCLUSION: The prevalence of CP and TD is lower than reported from western countries. CP prevalence is also comparatively lower than in many community studies from India. Compared to western nations, higher proportion of FS cases develops epilepsy. A third of the CP cases have seizures which is higher than in many Indian studies. Birth anoxia is a common cause of CP and educational underachievement is frequent.

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.

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