Comorbiditat de la síndrome de Gilles de la Tourette i la síndrome d’Asperger : a propòsit d’un cas

Presentem una anàlisi qualitativa sobre l’evolució de la simptomatologia i la intervenció en àmbit escolar d’un adolescent de 15 anys diagnosticat de síndrome de Gilles de la Tourette i de síndrome d’Asperger. En aquests dos trastorns la comorbiditat no ha estat prou investigada. Realitzem una observació directa del comportament de l’adolescent en l’ambient escolar durant dos trimestres. S’utilitza una agenda del dia a dia acadèmic on s’apunten totes les dades rellevants referents a la conducta del subjecte, recull de dibuixos o narracions personals amb la finalitat de confeccionar un llistat de les conductes patró. Amb l’objectiu d’augmentar el nivell d’autoconsciència del subjecte en quant al control i descontrol de les seves conductes, se li aplica: reforç positiu permanent i contenció en situacions amb conductes més violentes. Observem que, independentment del diferent origen psicogenètic i psiconeurològic d’ambdues síndromes, les conductes resultants son similars, i que la intervenció aplicada dóna uns resultats favorables. Els resultats ens porten a afirmar que en aquest cas la intervenció cognitiu- conductual esdevé més eficaç que la intervenció conductual.

La s??ndrome de Gilles de la Tourette i la seva repercussi?? en els entorns escolars

Resumen basado en el de la publicaci??n

Étude polysomnographique comparative du sommeil d'enfants souffrant du syndrôme de Gilles de la Tourette et de sujets contrôles

Mémoire numérisé par la Direction des bibliothèques de l'Université de Montréal.

Étude polysomnographique comparative du sommeil d'enfants souffrant du syndrôme de Gilles de la Tourette et de sujets contrôles

Mémoire numérisé par la Direction des bibliothèques de l'Université de Montréal.

Gilles de la Tourette y su síndrome

Georges Albert Brutus Edouard Gilles de la Tourette nació y se crió dentro de una época esplendorosa de Francia. Se destacó por sus méritos como estudiante y fue educado para que tuviera una brillante carrera como médico. Su paso por el hospital Pitie-Salpêtrière fue algo fundamental en su vida, ya que allí conoció al profesor Jean-Martin Charcot quien le brindó la oportunidad y las herramientas para estudiar su pasión, la Neurología, de una manera amplia y a dedicarse a otros casos interesantes dedicados a la mente humana. Gracias a esto pudo describir la patología que hoy nos compete como el síndrome de La Tourette. Su estudio y su incansable curiosidad permitieron además involucrarse no sólo con este síndrome sino que ayudó a hacer múltiples descripciones de otras patologías e incursionó en el nuevo campo del hipnotismo. Sin embargo, su muerte prematura, debido a una enfermedad hoy en día curable, hizo que se truncara la maravillosa mente de este neurólogo que, muy seguramente, hubiese aportado más conocimiento de la época a nuestro saber actual.

Sex-related and non-sex-related comorbidity subtypes of tic disorders: a latent class approach.

BACKGROUND AND PURPOSE: Recent evidence suggests that there may be more than one Gilles de la Tourette syndrome (GTS)/tic disorder phenotype. However, little is known about the common patterns of these GTS/tic disorder-related comorbidities. In addition, sex-specific phenomenological data of GTS/tic disorder-affected adults are rare. Therefore, this community-based study used latent class analyses (LCA) to investigate sex-related and non-sex-related subtypes of GTS/tic disorders and their most common comorbidities. METHODS: The data were drawn from the PsyCoLaus study (n = 3691), a population-based survey conducted in Lausanne, Switzerland. LCA were performed on the data of 80 subjects manifesting motor/vocal tics during their childhood/adolescence. Comorbid attention-deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder, depressive, phobia and panic symptoms/syndromes comprised the selected indicators. The resultant classes were characterized by psychosocial correlates. RESULTS: In LCA, four latent classes provided the best fit to the data. We identified two male-related classes. The first class exhibited both ADHD and depression. The second class comprised males with only depression. Class three was a female-related class depicting obsessive thoughts/compulsive acts, phobias and panic attacks. This class manifested high psychosocial impairment. Class four had a balanced sex proportion and comorbid symptoms/syndromes such as phobias and panic attacks. The complementary occurrence of comorbid obsessive thoughts/compulsive acts and ADHD impulsivity was remarkable. CONCLUSIONS: To the best of our knowledge, this is the first study applying LCA to community data of GTS symptoms/tic disorder-affected persons. Our findings support the utility of differentiating GTS/tic disorder subphenotypes on the basis of comorbid syndromes.

Brain structure in movement disorders: a neuroimaging perspective.

Purpose of review: An overview of recent advances in structural neuroimaging and their impact on movement disorders research is presented. Recent findings: Novel developments in computational neuroanatomy and improvements in magnetic resonance image quality have brought further insight into the pathophysiology of movement disorders. Sophisticated automated techniques allow for sensitive and reliable in-vivo differentiation of phenotype/genotype related traits and their interaction even at presymptomatic stages of disease. Summary: Voxel-based morphometry consistently demonstrates well defined patterns of brain structure changes in movement disorders. Advanced stages of idiopathic Parkinson's disease are characterized by grey matter volume decreases in basal ganglia. Depending on the presence of cognitive impairment, volume changes are reported in widespread cortical and limbic areas. Atypical Parkinsonian syndromes still pose a challenge for accurate morphometry-based classification, especially in early stages of disease progression. Essential tremor has been mainly associated with thalamic and cerebellar changes. Studies on preclinical Huntington's disease show progressive loss of tissue in the caudate and cortical thinning related to distinct motor and cognitive phenotypes. Basal ganglia volume in primary dystonia reveals an interaction between genotype and phenotype such that brain structure changes are modulated by the presence of symptoms under the influence of genetic factors. Tics in Tourette's syndrome correlate with brain structure changes in limbic, motor and associative fronto-striato-parietal circuits. Computational neuroanatomy provides useful tools for in-vivo assessment of brain structure in movement disorders, allowing for accurate classification in early clinical stages as well as for monitoring therapy effects and/or disease progression.

Comparaison des potentiels évoqués cognitifs de patients présentant des tics chroniques simples ou complexes

Les tics affectent 1% des individus et sont associés avec une diminution de la qualité de vie. L’importante hétérogénéité phénoménologique retrouvée chez ceux-ci représente un obstacle majeur pour l’évaluation et le traitement de ces symptômes, et explique potentiellement la présence de données neurobiologiques contradictoires. Certaines variables rarement contrôlées, comme la complexité des tics et la demande motrice des tâches pourraient expliquer l’hétérogénéité de ces résultats. Une meilleure compréhension des processus cognitifs affectés pourrait être atteinte par l’étude de la chronométrie des événements cérébraux. Ainsi, notre objectif était d’évaluer l’impact de la complexité des tics et du type de réponse sur les potentiels électrocorticaux liés à l’inhibition, à l’attention et à la mémoire de patients tics. Nous avons comparé 12 patients présentant des tics simples avec 12 patients atteints de tics complexes, qui furent appariés à 15 participants contrôles sains. Deux tâches oddball furent accomplies, dont l’une exigeait une réponse motrice et l’autre une réponse non-motrice (compter le nombre de stimuli). Durant ces tâches, nous avons enregistré des composantes électrocorticales indexant des processus d’attention (P200), d’inhibition (N200) et de mémoire (P300). Pour la tâche non-motrice, nos résultats révélèrent une N200 plus ample chez les deux groupes de patients tics et une P300 réduite seulement chez ceux avec des tics simples. Quant à la tâche motrice, les deux groupes de patients tics présentaient une P300 réduite. Selon nos résultats, la complexité des tics et la demande motrice des tâches peuvent affecter les mécanismes neuronaux sous-tendant les différentes étapes du traitement de l’information.

Laryngeal electromyography in movement disorders: Preliminary data

This study describes preliminary laryngeal electromyography (LEMG) data and botulinum toxin treatment in patients with dysphonia due to movement disorders. Twenty-five patients who had been clinically selected for botulinum toxin administration were examined, 19 with suspected laryngeal dystonia or spasmodic dysphonia (SD), 5 with vocal tremor, and 1 with Gilles de la Tourette syndrome (GTS). LEMG evaluations were performed before botulinum toxin administration using monopolar electrodes. Electromyography was consistent with dystonia in 14 patients and normal in 5, and differences in frequency suggesting essential tremor in 3 and Parkinson tremors in 2. The different LEMG patterns and significant improvement in our patients from botulinum toxin therapy has led us to perform laryngeal electromyography as a routine in UNICAMP movement disorders ambulatory.

Anti-basal ganglia antibodies and Tourette's syndrome: a voxel-based morphometry and diffusion tensor imaging study in an adult population.

Anti-basal ganglia antibodies (ABGAs) have been suggested to be a hallmark of autoimmunity in Gilles de la Tourette's syndrome (GTS), possibly related to prior exposure to streptococcal infection. In order to detect whether the presence of ABGAs was associated with subtle structural changes in GTS, whole-brain analysis using independent sets of T(1) and diffusion tensor imaging MRI-based methods were performed on 22 adults with GTS with (n = 9) and without (n = 13) detectable ABGAs in the serum. Voxel-based morphometry analysis failed to detect any significant difference in grey matter density between ABGA-positive and ABGA-negative groups in caudate nuclei, putamina, thalami and frontal lobes. These results suggest that ABGA synthesis is not related to structural changes in grey and white matter (detectable with these methods) within frontostriatal circuits.

A interação escolar de uma criança com Sindrome de Tourette, segundo as percepções de pais e educadores um estudo de caso exploratório

The syndrome of Gilles de la Tourette (ST) can cause marked distress in several areas of functioning. The literature indicates that children with TS may present diffi culties in relationships with teachers and peers. This case study exploration aimed to discover and describe the perceptions of parents and teachers of child with TS enrolled in regular school, regarding the child-school relationships. Interviews were conducted with parents of a 8 years-old child, diagnosed with ST and three educators. Participant observation of everyday children’s school was also performed. The set of reports reveals doubts on the part of respondents to identify involuntary behaviors of the child or to identify intentional actions. It was observed that there is still no connection between parents and educators in meeting the needs of the child. It is assumed that intervention strategies in a multidisciplinary perspective could help parents, educators and health care professionals act in a coordinated way in order to improve the school and social interaction of the child.

Phase d'activation transitoire et analyse spectrale en sommeil : utilisation pour la qualification des mécanismes d'éveil chez l'enfant Tourette

Mémoire numérisé par la Direction des bibliothèques de l'Université de Montréal.

Phase d'activation transitoire et analyse spectrale en sommeil : utilisation pour la qualification des mécanismes d'éveil chez l'enfant Tourette

Mémoire numérisé par la Direction des bibliothèques de l'Université de Montréal.

Sensory Gating Scales and Premonitory Urges in Tourette Syndrome

Sensory and sensorimotor gating deficits characterize both Tourette syndrome (TS) and schizophrenia. Premonitory urges (PU) in TS can be assessed with the University of Sao Paulo Sensory Phenomena Scale (USP-SPS) and the Premonitory Urge for Tics Scale (PUTS). In 40 subjects (TS: n = 18; healthy comparison subjects [HCS]: n = 22), we examined the relationship between PU scores and measures of sensory gating using the USP-SPS, PUTS, Sensory Gating Inventory (SGI), and Structured Interview for Assessing Perceptual Anomalies (SIAPA), as well symptom severity scales. SGI, but not SIAPA, scores were elevated in TS subjects (p < 0.0003). In TS subjects, USP-SPS and PUTS scores correlated significantly with each other, but not with the SGI or SIAPA; neither PU nor sensory gating scales correlated significantly with symptom severity. TS subjects endorse difficulties in sensory gating and the SGI may be valuable for studying these clinical phenomena.