Transcranial sonography of subcortical structures in tic/tourette disorder.

Functional neuroimaging studies demonstrate disinhibition of the cortico-striatal-thalamo-cortical circuit. However, structural imaging studies revealed conflicting results, some suggesting smaller volumes of the caudate nucleus (CN) in children with Gilles de la Tourette syndrome (TS). Here we wanted to find out whether transcranial sonography (TCS) detects alterations of raphe nuclei, substantia nigra, lenticular nucleus (LN), or CN in children with Tic disorder or TS (TIC/TS).The study included 25 treatment-naive children (age: 12.2 ± 2.5 years) with a DSM-V based diagnosis of Tic disorder or TS (10 subjects), without other psychiatric or neurologic diagnosis, and 25 healthy controls (age: 12.17 ± 2.57 years), matched for age and sex. Parental rating of behavioral, emotional abnormalities, somatic complaints and social competencies of the participants were assessed using the Child Behavior Check List (CBCL/4-18R). TCS of deep brain structures was conducted through the preauricular acoustic bone windows using a 2.5-MHz phased-array ultrasound system. Fisher's exact test and Mann-Whitney-U test were used for comparisons between TIC/TS patients and healthy volunteers. The number of participants with hyperechogenic area of left CN in the TIC/TS sample was increased, compared to the healthy control group. TIC/TS patients with hyperechogenic CN showed an increased occurrence of thought- and obsessive-compulsive problems. This TCS study revealed pathologic structural changes in CN, its higher occurrence in TIC/TS compared to healthy controls and the relation to comorbidity of thought problems. Further research should focus on the molecular cause of these alterations, probably the disturbed iron metabolism.

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.

Análisis de ligamiento genético del síndrome de Gilles de la Tourette en una familia colombiana / Genetic linkage analysis of Gilles de la Tourette syndrome in a colombian family

Introducción. El síndrome de Gilles de la Tourette (SGT) es un trastorno neuropsiquiátrico crónico caracterizado por la presencia de tics fónicos y motores. Aunque sus causas fisiopatológicas se desconocen, se ha involucrado al circuito corticoestriado-talamocortical. La evidencia genética del SGT se sustenta por estudios de concordancia entre gemelos, por su alta agregación familiar y por su asociación con el trastorno-obsesivo compulsivo (TOC), el trastorno de déficit de atención con hiperactividad (TDAH) y los tics motores (TM) o fónicos (TF). Actualmente se acepta que el SGT es una enfermedad compleja y los trastornos asociados pueden ser expresiones alternativas del mismo síndrome. Objetivo. Evaluar el ligamiento genético en las regiones 2p11, 6p24, 11q23, 20q13 y 21q22, en una familia antioqueña con suficiente poder para detectar ligamiento. Pacientes y métodos. Mediante el programa Linkage se calculó el ligamiento genético bajo los modelos de herencia autosómico dominante, recesivo y aditivo, y se evaluaron dos espectros fenotípicos: uno amplio que incluía como afectados a individuos con SGT, TDAH, TOC, TM, y TF, y uno estrecho que incluía sólo a individuos con SGT. Resultados. El patrón de herencia más probable para un locus de susceptibilidad al SGT y sus trastornos asociados, en esta familia, es el autosómico aditivo. Se descarta la presencia de un locus involucrado en SGT en la región 2p11. Conclusión. Los valores de ligamiento obtenidos con los marcadores D20S1085 y D6S477 son sugestivos y, por lo tanto, no se puede descartar que estos marcadores se encuentren en desequilibrio de ligamiento con genes involucrados en la etiología del SGT, TDAH, TOC, TM, y TF (AU)

Introduction. Gilles de la Tourette Syndrome (GTS) is a cronic neuropsychiatric disorder characterized by fonic and motor tics. Although its physiopathologic bases are unknown, the cortical-striatal-talamic-cortical circuit has been studied. The association of GTS with attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), motors tics (MT) or phonics tics (PT), the high family aggregation, and the concordance studies in twins, support the genetics bases of this disorder. Currently, GTS is accepted as a complex disorder and the associated disorders could be alternative expressions of the same syndrome. Aim. To evaluate genetic linkage to 2p11, 6p24, 11q23, 20q13 and 21q22 regions in an Antioquian family with enough power to detect linkage. Patients and methods. With the Linkage program and using autosomic dominant, recessive and additive inheritance models, the genetic linkage was calculated; two phenotypic spectra was considered: one broad spectrum including affected individuals with GTS, ADHD, OCD, MT, and PT, and a narrow spectrum with only GTS. Results. The most probable inheritance pattern for a susceptibility locus in GTS and its associated disorders in this family is autosomic additive. The presence of a locus involved in GTS in the 2p11 region has been rejected. Conclusion. The linkage values for D20S1085 and D6S477 markers are suggestive and therefore it is not possible reject that these markers will be in linkage disequilibrium with genes involved in the GTS, ADHD, OCD, MT, and PT etiology (AU)

El uso de los nuevos antipsicóticos atípicos en el síndrome de Gilles de la Tourette / Use of atypical antipsychotics in Tourette´s syndrome

El síndrome de GiIles de la Tourette (SGT) es un trastorno neuropsiquiátrico con tics motores y vocales crónicos y una elevada comorbilidad y síntomas secundarios. Se han venido usando agonistas alfa-2 (clonidina) o antipsicóticos clásicos (haloperidol, pimocida) con buena eficacia pero mala tolerancia (Efectos adversos). Revisamos la literatura existente sobre eficacia y tolerancia de los nuevos antipsicóticos (clozapina, risperidona, olanzapina, quetiapina, amisulpride, ziprasidona) en esta patología

Tourette's syndrome is a neuropsychiatric disorder characterized by chronic motor and vocal tics and a high comorbidity and associated symptoms. Usually, alpha-2 agonists (clonidine) or typical antipsychotics (haloperidol, pimozide) have been used with a good efficacy but they are poorly tolerated (adverse effects). We review here the existing evidences on efficacy and tolerance for the new antipsychotics (clozapine, risperidone, olanzapine, quetiapine, amisulpride, ziprasidoné) on this disorder

The Segmented Regional Volumes of the Cerebrum and Cerebellum in Boys with Tourette Syndrome

Neuropathological deficits are an etiological factor in Tourette syndrome (TS), and implicate a network linking the basal ganglia and the cerebrum, not a particular single brain region. In this study, the volumes of 20 cerebral and cerebellar regions and their symmetries were measured in normal boys and TS boys by brain magnetic resonance imaging. Brain magnetic resonance images were obtained prospectively in 19 boys with TS and 17 age-matched normal control boys. Cerebral and cerebellar regions were segmented to gray and white fractions using algorithm for semi-automated fuzzy tissue segmentation. The frontal, parietal, temporal, and the occipital lobes and the cerebellum were defined using the semiautomated Talairach atlas-based parcellation method. Boys with TS had smaller total brain volumes than control subjects. In the gray matter, although the smaller brain volume was taken into account, TS boys had a smaller right frontal lobe and a larger left frontal lobe and increased normal asymmetry (left>right). In addition, TS boys had more frontal lobe white matter. There were no significant differences in regions of interest of the parietal, temporal, or the occipital lobes or the cerebellum. These findings suggest that boys with TS may have neuropathological abnormalities in the gray and the white matter of the frontal lobe.

Trastornos obsesivo-compulsivo: teorías neurobiológicas / Obsessive-compulsive disorder: theorys neurobiology

Desde la época de Freud, se han ido acumulando una serie de evidencias que han llevado a pensar que el trastorno obsesivo-compulsivo tiene una etiología biológica. Recientemente, los investigadores en el área han realizado estudios de neuroimágenes y estudios neuroquímicos, con la finalidad de encontrar las anormalidades responsables a la aparición del trastorno. De estas investigaciones se han derivado dos hipótesis etiológicas: la neuroanatómica y la neuroquímica, las cuales son revisadas en este artículo