Search

Abstract Background Gilles de la Tourette syndrome (GTS) is a persistent neurological disorder that profoundly affects the quality of life for afflicted individuals, however, tailored health-related quality of life (QOL) measures for Chinese pediatric GTS patients are lacking. This pioneering study aims to develop a QOL scale for Chinese children with GTS. Methods A cohort of 1,121 children (aged 6–16 years) diagnosed with GTS participated in scale development. Internal consistency was evaluated using Cronbach’s alpha. Exploratory factor analysis (EFA) and confirmatory factor analysis (CFA) were performed to assess the factor structure of the GTS-QOL-Chinese, examining goodness-of-fit indices, factor loadings of individual items, and covariances between factors. Validity was determined through interscale correlations and comparisons with external measures to establish convergent and discriminant validity. Results Following reliability and validity analyses, a Chinese version of the 24-item GTS-specific quality of life scale was conclusively established, encompassing five subscales (psychological, compulsive, cognitive, physical, social). The scale demonstrated high internal consistency with a Cronbach’s alpha coefficient of 0.93, and validity was substantiated through interscale correlations ranging from 0.46 to 0.68. EFA identified five factors, explaining 61.26% of the total variation. CFA further confirmed the scale’s robustness, with all goodness-of-fit indicators meeting acceptable criteria (AGFI = 0.86, PCFI = 0.78, GFI = 0.89, CFI = 0.89, RMSEA = 0.07, SRMR = 0.06). Conclusions The Chinese version of the GTS-QOL scale has exhibits robust reliability and validity and is valuable for assessing the quality of life of Chinese children and adolescents with GTS. This scale may assist in tailoring interventions and improving patient care.

Abstract Background Motor and vocal tics are the main symptom of Gilles de la Tourette-syndrome (GTS). A particular complex vocal tic comprises the utterance of swear words, termed coprolalia. Since taboo words are socially inappropriate, they are normally suppressed by people, which implies cognitive control processes. Method To investigate the control of the unintentional pronunciation of taboo words and the associated processes of conflict monitoring, we used the “Spoonerisms of Laboratory Induced Predisposition” (SLIP) paradigm. Participants read multiple inductor word pairs with the same phonemes, followed by pronouncing a target pair with inverse phonemes. This led to a conflict between two competing speech plans: the correct word pair and the word pair with inverted phonemes. Latter speech error, a spoonerism, could result in a neutral or taboo word. We investigated 19 patients with GTS and 23 typically developed controls (TDC) and measured participants’ electroencephalography (EEG) during the SLIP task. Results At the behavioral level less taboo than neutral word spoonerisms occurred in both groups without significant differences. Event-related brain potentials (ERP) revealed a difference between taboo and neutral word conditions in the GTS group at the midline electrodes in a time range of 250–400 ms after the speech prompt, which was not found in the TDC group. The extent of this effect depended on the number of inductor word pairs, suggesting an increasing level of cognitive control in the GTS group. Conclusion The differences between taboo and neutral word conditions in patients with GTS compared to TDC suggest an altered recruitment of cognitive control processes in GTS, likely enlisted to suppress taboo words.

BackgroundObsessive compulsive disorder (OCD) and Gilles de la Tourette syndrome (GTS) are neurodevelopmental disorders characterized by difficulties in controlling intrusive thoughts (obsessions) and undesired actions (tics), respectively. Both conditions have been associated with abnormal inhibition but a tangible deficit of inhibitory control abilities is controversial in GTS.MethodsHere, we examined a 25 years-old male patient with severe OCD symptoms and a mild form of GTS, where impairments in motor control were central. Transcranial magnetic stimulation (TMS) was applied over the primary motor cortex (M1) to elicit motor-evoked potentials (MEPs) during four experimental sessions, allowing us to assess the excitability of motor intracortical circuitry at rest as well as the degree of MEP suppression during action preparation, a phenomenon thought to regulate movement initiation.ResultsWhen tested for the first time, the patient presented a decent level of MEP suppression during action preparation, but he exhibited a lack of intracortical inhibition at rest, as evidenced by reduced short-interval intracortical inhibition (SICI) and long-interval intracortical inhibition (LICI). Interestingly, the patient’s symptomatology drastically improved over the course of the sessions (reduced obsessions and tics), coinciding with feedback given on his good motor control abilities. These changes were reflected in the TMS measurements, with a significant strengthening of intracortical inhibition (SICI and LICI more pronounced than previously) and a more selective tuning of MEPs during action preparation; MEPs became even more suppressed, or selectively facilitated depending on the behavioral condition in which they we probed.ConclusionThis study highlights the importance of better understanding motor inhibitory mechanisms in neurodevelopmental disorders and suggests a biofeedback approach as a potential novel treatment.

Gilles de la Tourette syndrome (GTS) and dystonia (DYS) are both hyperkinetic movement disorders effectively treated by deep brain stimulation (DBS) of the internal part of the globus pallidus (GPi). In this study, we compared single-neuron activity in the GPi between 18 GTS patients (with an average of 41 cells per patient) and 17 DYS patients (with an average of 54 cells per patient), all of whom underwent bilateral pallidal stimulation surgery, under general anesthesia or while awake at rest. We found no significant differences in GPi neuronal activity characteristics between patients operated on under general anesthesia versus those who were awake, irrespective of their diagnosis (GTS or DYS). We found higher firing rates, firing rate in bursts, pause duration and interspike interval coefficient of variation in GTS patients compared to DYS patients. On the opposite, we found higher number of pauses and bursts frequency in DYS patients. Lastly, we found a higher proportion of GPi oscillatory activities in DYS compared to GTS patients, with predominant activity within the low-frequency band (theta/alpha) in both patient groups. These findings underscore the complex relationship between the different neuronal discharge characteristic such as oscillatory or bursting activity within the GPi in shaping the clinical phenotypes of hyperkinetic disorders. Further research is warranted to deepen our understanding of how neuronal patterns are transmitted within deep brain structures and to develop strategies aimed at normalizing these pathological activities, by refining DBS techniques to enhance treatment efficacy and individual outcomes., (© 2024 The Author(s). European Journal of Neuroscience published by Federation of European Neuroscience Societies and John Wiley & Sons Ltd.)

Gilles de la Tourette syndrome (GTS) is a complex disorder characterized by the presence of motor and vocal tics, as well as neuropsychiatric pathological features. Visual field defects have also been described in GTS patients by Enoch et al. in the 1980s. In the current paper, the authors discuss Enoch et al. studies showing visual field defects in patients with GTS, presenting a similar case evaluated in the context of newer structural and functional examination modalities.

Abstract Personal distress associated with tic urges or inhibition and relief associated with tic production are defining features of the personal experience in Gilles de la Tourette syndrome (GTS). These affective phenomena have not been studied using fMRI, hindering our understanding of GTS pathophysiology and possible treatments. Here, we present a novel cross-sectional fMRI study designed to map tic-related phenomenology using distress and relief as predicting variables. We adopted a mental imagery approach and dissected the brain activity associated with different phases of tic behaviors, premonitory urges, and the ensuing tic execution or inhibition: these were compared with the mental simulation of “relaxed situations” and pre-determined stereotyped motor behaviors. We then explored whether the ensuing brain patterns correlated with the distress or relief perceived for the different phases of the tasks. Patients experienced a higher level of distress during the imagery of tic-triggering scenarios and no relief during tic inhibition. On the other hand, patients experienced significant relief during tic imagery. Distress during tic-triggering scenarios and relief during tic imagery were significantly correlated. The distress perceived during urges correlated with increased activation in cortical sensorimotor areas, suggesting a motor alarm. Conversely, relief during tic execution was positively associated with the activity of a subcortical network. The activity of the putamen was associated with both distress during urges and relief during tic execution. These findings highlight the importance of assessing the affective component of tic-related phenomenology. Subcortical structures may be causally involved in the affective component of tic pathophysiology, with the putamen playing a central role in both tic urge and generation. We believe that our results can be readily translated into clinical practice for the development of personalized treatment plans tailored to each patient’s unique needs.

Gilles de la Tourette syndrome (GTS) is a disorder characterised by motor and vocal tics, which may represent habitual actions as a result of enhanced learning of associations between stimuli and responses (S‐R). In this study, we investigated how adults with GTS and healthy controls (HC) learn two types of regularities in a sequence: statistics (non‐adjacent probabilities) and rules (predefined order). Participants completed a visuomotor sequence learning task while EEG was recorded. To understand the neurophysiological underpinnings of these regularities in GTS, multivariate pattern analyses on the temporally decomposed EEG signal as well as sLORETA source localisation method were conducted. We found that people with GTS showed superior statistical learning but comparable rule‐based learning compared to HC participants. Adults with GTS had different neural representations for both statistics and rules than HC adults; specifically, adults with GTS maintained the regularity representations longer and had more overlap between them than HCs. Moreover, over different time scales, distinct fronto‐parietal structures contribute to statistical learning in the GTS and HC groups. We propose that hyper‐learning in GTS is a consequence of the altered sensitivity to encode complex statistics, which might lead to habitual actions. [ABSTRACT FROM AUTHOR]

Georges Albert Brutus Edouard Gilles de la Tourette nació y se crio 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 la y 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.

Background/Objectives : Behavioral disturbances are a common phenomenon associated with Gilles de la Tourette syndrome (GTS), which can manifest as non-obscene socially inappropriate behaviors (NOSIBs). The classification of NOSIB has not yet been clearly established. The objective of this study was to determine the frequency, age of onset, and clinical correlation of NOSIB with tic severity and the prevalence of comorbid psychiatric disorders in individuals with GTS. Methods : A total of 365 participants (272 male, 74.5%) with GTS were included in the study. Of these, 278 (76.2%) were children and adolescents. The mean age of the participants at evaluation was 14.4 ± 9.8 years, with a range of 4 to 64 years. The clinical data of NOSIB were collected during a routine, ambulatory examination using half-structured questionnaires developed by the authors. Results : NOSIB was observed in 86 patients with GTS, representing a prevalence of 23.6%. NOSIB commenced at a mean age of 6.6 ± 4.1 years (range 2-19). The mean age at onset of NOSIB was 1.4 ± 3.7 years after the onset of tics, with 18 cases (26.1%) preceding tics and 13 cases (18.8%) starting at the same age as tics. The results of the multivariate analysis confirmed the associations between NOSIB and YGTSS ( p = 0.02) and coprophenomena ( p < 0.01), as well as ADHD ( p < 0.01), ODD ( p = 0.01), ASD ( p < 0.01), and anxiety disorders ( p = 0.02). Conclusions : NOSIB is an early symptom of GTS that typically manifests in childhood and occurs in approximately a quarter of patients. Tic severity and the presence of psychiatric comorbidities, which indicate a more severe disease course, may serve as risk factors for NOSIB.

Background: Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder of complex genetic architecture and is characterized by multiple motor tics and at least one vocal tic persisting for more than 1 year., Methods: We performed a genome-wide meta-analysis integrating a novel TS cohort with previously published data, resulting in a sample size of 6133 individuals with TS and 13,565 ancestry-matched control participants., Results: We identified a genome-wide significant locus on chromosome 5q15. Integration of expression quantitative trait locus, Hi-C (high-throughput chromosome conformation capture), and genome-wide association study data implicated the NR2F1 gene and associated long noncoding RNAs within the 5q15 locus. Heritability partitioning identified statistically significant enrichment in brain tissue histone marks, while polygenic risk scoring of brain volume data identified statistically significant associations with right and left thalamus volumes and right putamen volume., Conclusions: Our work presents novel insights into the neurobiology of TS, thereby opening up new directions for future studies., (Copyright © 2023 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.)

Background: Medical cannabis (MC) is widely used in clinical practice to treat Gilles de la Tourette syndrome (GTS). However, legislation, multiple modes of administration, and inconsistent plant preparations have limited trials to assess its benefits and long-term safety. For the past decade, licensed MC has been authorized in Israel for use in resistant GTS. We aimed to describe subjects' satisfaction, consumption habits, and THC dose increment during long-term usage. Materials and Methods: A retrospective longitudinal data collection (up to 9 years) on cannabis use habits and structured questionnaires evaluating disease characteristics and MC influence from GTS subjects being treated in the Movement Disorders Unit of the Tel-Aviv Medical Center, Israel. Results: Twenty-five patients (84% male) participated in the study. The mean duration of MC use was 4.0±2.3 years (range 0.5-10). The majority of patients (96%) consumed MC primarily, but not exclusively, through inhalation methods such as smoking or vaporizing dried inflorescence. A linear increase was observed in mean monthly THC dose ( p <0.0001) with an average increase of 0.6-0.7 g/year. MC led to a subjectively reported reduction in tics (75% average reduction) and symptoms associated with common comorbidities of GTS. MC was generally well tolerated, although most participants (88%) reported experiencing side effects. Conclusions: A subset of GTS subjects who use MC long term under clinical observation may subjectively improve control of symptoms. Subject-led dose increase can indicate emerging tolerance. Large randomized controlled and observational long-term trials are required to confirm these observations.

Background: There are still no sufficient data regarding the use of deep brain stimulation (DBS) in Gilles de la Tourette syndrome (GTS) and no agreement on optimal target. Objective: To compare efficacy and safety of bilateral DBS of thalamus (centromedian-ventro-oral internus, CM-Voi) versus posteroventral lateral globus pallidus internus (pvl GPi)) versus sham stimulation, and baseline in severe medically refractory GTS. Methods: In this randomized double-blind sham stimulation-controlled trial (RCT), 10 patients (3 women, mean age = 29.4 ± 10.2 SD, range 18–47) underwent three blinded periods each lasting three months including (i) sham, (ii) pvl GPi (on-GPi), and (iii) thalamic stimulation (on-thal) followed by an open uncontrolled long-term follow-up (up to 9 years) with individually determined target and stimulation settings. Results: Nine patients completed the RCT. At group level, on-GPi – but not on-thal – resulted in a significant tic reduction compared to baseline, but had no effect on premonitory urges and psychiatric comorbidities. Direct comparisons of targets resulted in inconsistent or negative (compared to sham) findings. During follow-up, we found no improvement of tics, comorbidities, and quality of life at group level, however, single patients benefitted continuously from thalamic DBS. At last follow-up 89.9 months (mean) after surgery, 50% of patients had discontinued DBS. Hardware infections occurred in 3/10 patients. Conclusion: Our data suggest that the initial effect of pvl GPi DBS is superior to thalamic (CM-Voi) DBS. While half of the patients discontinued treatment, single patients benefitted from thalamic DBS even after years. It is likely that outcome is influenced by various factors beyond the mere change in tic severity.

Gilles de la Tourette syndrome (GTS) is a neuropsychiatric movement disorder with reported abnormalities in various neurotransmitter systems. Considering the integral role of iron in neurotransmitter synthesis and transport, it is hypothesized that iron exhibits a role in GTS pathophysiology. As a surrogate measure of brain iron, quantitative susceptibility mapping (QSM) was performed in 28 patients with GTS and 26 matched controls. Significant susceptibility reductions in the patients, consistent with reduced local iron content, were obtained in subcortical regions known to be implicated in GTS. Regression analysis revealed a significant negative association of tic scores and striatal susceptibility. To interrogate genetic mechanisms that may drive these reductions, spatially specific relationships between susceptibility and gene-expression patterns from the Allen Human Brain Atlas were assessed. Correlations in the striatum were enriched for excitatory, inhibitory, and modulatory neurochemical signaling mechanisms in the motor regions, mitochondrial processes driving ATP production and iron‑sulfur cluster biogenesis in the executive subdivision, and phosphorylation-related mechanisms affecting receptor expression and long-term potentiation in the limbic subdivision. This link between susceptibility reductions and normative transcriptional profiles suggests that disruptions in iron regulatory mechanisms are involved in GTS pathophysiology and may lead to pervasive abnormalities in mechanisms regulated by iron-containing enzymes.

Increased activity in the left inferior parietal cortex (BA40) plays a role in the generation of tics in the Gilles de la Tourette syndrome (GTS). Thus, inhibitory repetitive transcranial magnetic stimulation (rTMS) applied to BA40 was hypothesized to alleviate symptoms in GTS. We investigated the immediate effects of single-session 1 Hz rTMS and sham stimulation delivered to the left BA40 on tics assessed with the Rush video protocol in 29 adults with GTS. There were no significant effects on tic symptoms following rTMS or sham stimulation. Moreover, there was no difference when comparing the effects of both stimulation conditions. Bayesian statistics indicated substantial evidence against an intervention effect. The left BA40 appears not to be a useful target for 1 Hz rTMS to modulate tic symptoms in GTS patients.

Introduction: Tourette Syndrome (TS) is a complex neurodevelopmental disorder which is normally associated to psychiatric comorbidity such as attention deficit hyperactivity disorder, obsessive compulsive disorder, anxiety or depression. Quality of life (QoL) in these patients can be affected by tic severity and associated comorbidities., Aim: The aim of the study was to describe and analyze QoL and psychiatric comorbidities in a sample of pediatric patients, as well as to develop a Spanish version of the questionnaire CandA-GTS-QoL to measure quality of life in this population., Patients and Methods: Single-center, observational, prospective study. Patients aged 6 to 16 years old with TS were included. Demographic, clinical, diagnostic and treatment data were gathered. Questionnaires regarding tic severity, psychiatric comorbidity and quality of life were used., Results: Twenty-two patients with DSM-5 diagnosis of TS were included (86.4% male, median age 11 years). Of those, 86.4% had been previously diagnosed of psychiatric comorbidities and 72.7% received psychopharmacologic treatment. The prevalence of an ICD-10 current diagnosis of anxiety was 72.7%, depression 50%, ADHD 40.9% and OCD 7.3%. Median QoL score was 59.5 (RIC: 34.8-71.3) for PedsQL, and 55.5 (RIC: 45-65) for CandA-GTS-QoL, with a correlation between scores of R2 = 0.83 (p < 0.01). Higher tic severity was associated with poorer QoL (PedsQL R2: -0.732, p <0.01, CandA-GTS-QoL R2: -0.501, p = 0.021). A higher EDAH score for ADHD was associated with poorer QoL (PedsQL R2: -0.463, p = 0.03, CandA-GTS-QoL R2-0.534, p < 0.01)., Conclusion: Prevalence of psychiatric comorbidities in pediatric TS is high and frequently underdiagnosed. Tics and psychiatric comorbidities affect quality of life. Further studies are needed to validate the Spanish version of CandA-GTS-QoL scale.

Gilles de la Tourette syndrome is a neurodevelopmental disorder characterized by motor and vocal tics. It is associated with enhanced processing of stimulus-response associations, including a higher propensity to learn probabilistic stimulus-response contingencies (i.e. statistical learning), the nature of which is still elusive. In this study, we investigated the hypothesis that resting-state theta network organization is a key for the understanding of superior statistical learning in these patients. We investigated the graph-theoretical network architecture of theta oscillations in adult patients with Gilles de la Tourette syndrome and healthy controls during a statistical learning task and in resting states both before and after learning. We found that patients with Gilles de la Tourette syndrome showed a higher statistical learning score than healthy controls, as well as a more optimal (small-world-like) theta network before the task. Thus, patients with Gilles de la Tourette syndrome had a superior facility to integrate and evaluate novel information as a trait-like characteristic. Additionally, the theta network architecture in Gilles de la Tourette syndrome adapted more to the statistical information during the task than in HC. We suggest that hyper-learning in patients with Gilles de la Tourette syndrome is likely a consequence of increased sensitivity to perceive and integrate sensorimotor information leveraged through theta oscillation-based resting-state dynamics. The study delineates the neural basis of a higher propensity in patients with Gilles de la Tourette syndrome to pick up statistical contingencies in their environment. Moreover, the study emphasizes pathophysiologically endowed abilities in patients with Gilles de la Tourette syndrome, which are often not taken into account in the perception of this common disorder but could play an important role in destigmatization., Competing Interests: The authors report no competing interests., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Guarantors of Brain.)

Background: Though Gilles de la Tourette's syndrome (GTS) has significant impact on the quality of life of its patients, measures of health-related quality of life (HR-QOL) specific to adolescents and adults with GTS were not developed until recently. The present study provides evidence on the validity of the Gilles de la Tourette Syndrome-Quality of Life Scale (GTS-QOL), the first disease-specific HR-QOL instrument for GTS patients, for the first time in an East Asian sample.Methods: One hundred and two Japanese individuals aged 13 and above with GTS were included in our study. Internal consistency was evaluated using Cronbach's alpha. The 4-factor structure of the GTS-QOL was assessed using confirmatory factor analysis, using goodness of fit indices, factor loadings of each questionnaire item, and covariances between factors. Validity was assessed using interscale correlations. Convergent and discriminate construct validity was evaluated using correlations with other scales such as the 28-item General Health Questionnaire, the Yale Global Tic Severity Scale, and the short version of the Padua Inventory.Results: Scaling assumptions were met. Internal consistency reliability was high, with a Cronbach's alpha of 0.96. Confirmatory factor analysis revealed sufficient factor loadings and goodness of fit. All measures of goodness of fit corroborated the fit of the 4-factor model. Standardized covariances between factors in the confirmatory factor analysis were >0.8. There were significant correlations with other well-validated scales, and thus convergent and discriminate construct validity was sufficient.Conclusion: The GTS-QOL is a valid and reliable instrument to measure disease-specific HR-QOL of GTS patients in Japan.

Introduction: Tourette Syndrome (TS) is a common disorder with chronic motor and phonic tics, associated with neuropsychiatric comorbidities., Objective: To characterize clinical-demographic variables, comor bidities, and management in a pediatric cohort with TS and compare them according to sex., Patients and Method: A retrospective cohort of patients < 18 years old with TS followed up between 2000 and 2018 was evaluated. Clinical records were reviewed obtaining variables of age, sex, reason for consul tation, age of onset, type and complexity of tics, follow-up time, family history, obsessive behaviors, neuropsychiatric and psychopathological comorbidity, neurological disorders, and pediatric mor bidity. Studies and treatments performed, and management used were also recorded., Results: 126 patients were included, aged between 4-18 years, 103 males (sex F:M ratio = 4.5:1), with a follow-up of 4.8 ± 1.9 years. The mean age of tic onset and TS diagnosis was 6.5 ± 2.2 and 9.4 ± 2.7 years, res pectively, and a diagnostic latency of 2.8 ± 2.2 years. The first consultation in the total of girls was due to tics, in contrast to the boys of whom 14.6% (n = 15) consulted due to comorbidities. There was 38.9% of tics and 8,7% of TS. Neuropsychiatric comorbidities were frequent, recorded in 69.8%, with Attention Deficit Disorder (43.6%) and Obsessive-Compulsive Disorder (20.6%) standing out.110 cases (87.3%), received pharmacological therapy and 54.4% required three or more drugs at some point in their evolution. Only in 16 cases (12.7%), no pharmacological therapy was required, only psychoeducation in 7 (5.6%) cases, and behavioral therapy in 9 cases (7.1%)., Conclusions: The cli nical characteristics of our children with TS are similar to international descriptions, highlighting that in the group of boys, the first consultation could be due to comorbidity, recognizing later the presence of tics. Although psychoeducation and behavioral therapies are recommended as first-line management, most of the patients in this group required pharmacological therapy.

Abstract Background Tourette syndrome (TS) is a complex neurodevelopmental disorder (NDD) characterized by multiple chronic involuntary motor and vocal tics with onset during childhood or adolescence. Most TS patients present with additional comorbidities, typically attention deficit hyperactivity disorder (ADHD), obsessive- compulsive disorder (OCD), autism spectrum disorder (ASD) and intellectual disability (ID). Both TS and ID are genetically complex disorders that likely occur as a result of the effects of multiple genes interacting with other environmental factors. In addition to single gene mutations and chromosomal disorders, copy number variations (CNVs) are implicated across many NDDs and ID and contribute to their shared genetic etiology. Screening of CNVs using microarray-based Comparative Genomic Hybridization (aCGH) is now routinely performed in all subjects with NDD and ID. Case presentation We report a case of a 12-year-old girl diagnosed with Gilles de la Tourette Syndrome associated to behavior disorders and intellectual disability in particular with regard to language. Array-CGH analysis showed a CNV of a subtelomeric region Xq28 (gain of 260 kb) inherited from the healthy father. The duplication contains two genes, VAMP7 and SPRY3 of the PAR2 pseudoautosomal region. FISH analysis revealed that the duplicated segment is located on the short arm of a chromosome 13, resulting in a trisomy of the region. In the proband the expression levels of the genes evaluated in the peripheral blood sample are comparable both those of the mother and to those of female control subjects. Conclusions Although the trisomy of the 260 kb region from Xq28 identified in proband is also shared by the healthy father, it is tantalizing to speculate that, together with genetic risk factors inherited from the mother, it may play a role in the development of a form of Tourette syndrome with intellectual disability. This hypothesis is also supported by the fact that both genes present in the duplicated region (VAMP7 and SPRY3) are expressed in the CNS and are implicated in neurotransmission and neurite growth and branching. In addition, similar CNVs have been identified in individuals whose phenotype is associated with autism spectrum disorders or intellectual disability.

Abstract A 32‐year‐old gentleman with refractory Gilles de la Tourette syndrome went on a DBS procedure on anteromedial globus pallidus internus. At the most suitable adjustment, the OCD component of his disease improved almost completely while his tics remained unchanged which was in contrast with other previous studies. Moreover, variations in symptoms were seen in response to different adjustments. We discuss that these variations and fluctuations in the therapeutic outcomes may be due to differences in physiological conditions of tic‐ or OCD‐specified pathways and areas including distinct stimulation threshold and occurrence of neuroplasticity in neural circuits which may determine the responsiveness of each pathway or circuit to a specific stimulus. At last, we suggest that pathways and circuits should be targeted for DBS rather than single components; as these components may be involved in multiple pathways, related to different pathophysiological states.

(1) Background : Gilles de la Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by motor and vocal tics. Attention deficit and hyperactivity disorder (ADHD) is a common comorbidity of TS that adds further impairment. Cognitive-behavioural therapy (CBT) has shown efficacy in treating tics, yet its effectiveness in individuals with TS and comorbid ADHD remains unclear. Also, it is suggested that ADHD characteristics like executive dysfunction and inattention could hinder the response to CBT. This study aims to compare the response to CBT for tics and its maintenance six months post-therapy among TS individuals with and without ADHD symptoms. (2) Methods : In this study, 55 TS participants who completed 14-week CBT for tics were split into high (TS+) or low (TS-) ADHD symptomatology groups. Outcomes were evaluated using the Yale Global Tic Severity Scale (YGTSS) regarding global tic severity and motor and vocal tic frequency post-CBT and at a 6-month follow-up. (3) Results : No significant group difference was found regarding improvements post-CBT ( n = 55), nor the maintenance six months later ( n = 45). (4) Conclusions : ADHD symptoms may not hinder the response to CBT or its maintenance, suggesting that TS individuals with ADHD symptoms may not require specialized CBT interventions.

IntroductionThe aim of this study was to create a new version of the French GTS-QOL adapted to adolescents with GTS aged 12-16 years (GTS-QOL-French-Ado) and to evaluate its psychometric properties.MethodsWe assessed the psychometric properties of the GTS-QOL-French-Ado in 84 adolescents (mean age 13.6 years, standard deviation 1.2) in terms of factor structure, internal consistency, reliability and convergent validity with the Child Depression Inventory (CDI), the Multidimensional Anxiety Scale for Children (MASC), the Motor tic, Obsessions and compulsions, Vocal tic Evaluation Survey (MOVES) and the French "Vécu et Santé Perçue de l'Adolescent" (VSP-A), a generic self-administered measure of health-related quality of life (HRQoL) in adolescents.ResultsExploratory factor analysis of the GTS-QOL-French-Ado resulted in a 5-factor solution. The GTS-QOL-French-Ado demonstrated good acceptability with missing values per subscale ranging from 0% to 1.2%, good internal consistency for four of the five subscales with Cronbach's alpha ranging from 0.56 to 0.87 and good test-retest reliability with intraclass correlation coefficients ranging from 0.74 (95% CI: 0.52-0.86) to 0.82 (95% CI: 0.66-0.91). Convergent validity was supported by correlations with CDI, MASC, MOVES, VSP-A and clinical variables.DiscussionThe GTS-QOL-French-Ado is the first disease-specific HRQoL tool for French-speaking adolescents with GTS aged 12-16 years, and shows good psychometric properties. Further psychometric testing on responsiveness to change would be of great interest.

The first comprehensive description of Gilles de la Tourette syndrome as a neurological condition dates back to 1885 when Georges Gilles de la Tourette (1857–1904) published his case series of nine patients sharing the clinical triad of tics, echolalia, and coprolalia. At the time, Gilles de la Tourette was working at the Salpêtrière Hospital in Paris, France, under the guidance of Jean-Martin Charcot (1825–1893), one of the fathers of modern neurology. It was in fact Charcot who credited Gilles de la Tourette with the description of the syndrome that was named after him and gave him eponymous fame. Gilles de la Tourette's character was described as talented but erratic, and his life was relatively short for current standards but far from uneventful. Gilles de la Tourette syndrome, the complex neurodevelopmental disorder characterized by multiple motor and vocal tics, is undoubtedly his main legacy. The importance of the 1885 article was greatly underestimated at the time of its publication, partly because Gilles de la Tourette's main interests lied in the field of hysteria and hypnosis. Throughout the first half of the XX century, his name was progressively neglected, as the psychoanalytic paradigm that prevailed associated tics with rare and somewhat bizarre psychologically driven manifestations. However, Gilles de la Tourette's posthumous fame resurged during the 1960s, concomitant to a paradigm shift whereby the development of neurobiological models drove the renaissance of the scientific study of tic disorders, together with a reappraisal of Gilles de la Tourette's initial contribution.