Search

[FR] En 1946, dans l'article "L'Architecture et L'Esprit Mathématique", Le Corbusier se définissait comme un "apprenti graveur de boîtes de montres", évoquant la relation de son milieu familial avec cette industrie et faisant allusion, métaphoriquement, à la précision avec laquelle il concevrait toujours son architecture. Les grandes boîtes "vides" seront l'un des prototypes où l'architecte expérimentera le plus intensément l'évolution de ses recherches spatiales tout au long de sa carrière. L'article se concentre sur l'analyse de celles construites après 1945, année où il publie son texte L'espace indicible. Les postulats de la machine à habiter puriste des années 1920 y sont progressivement remplacés par ceux d'une machine émouvante d'une nature très différente, représentée dans son imaginaire par le prototype théorique de la Boîte à Miracles. Une boîte qui, avec des formes et des géométries différentes, matérialise les principes de l'espace indicible, et que, au-delà de rester sur le plan purement théorique ou évocateur, comme on l'analyse et l'explique habituellement, Le Corbusier s'est efforcé de construire dans la dernière étape de sa carrière. Un décryptage minutieux des mécanismes architecturaux, plastiques et perceptifs utilisés par le maître dans la construction de la quatrième dimension tant désirée est ainsi proposé., [EN] In 1946, in the article "L'Architecture et L'Esprit Mathématique" Le Corbusier defined himself as an "apprentice watch case engraver", evoking the relationship of his family background with this industry and alluding, metaphorically, to the precision with which he would always design his architecture. The large "empty" boxes will be one of the prototypes where the architect will most intensely experience the evolution of his spatial searches throughout his career. The article focuses on the analysis of those built after 1945, the year in which he published his text L'espace indicible. In them, the postulates of the purist machine à habiter of the 1920s were progressively replaced by those of a machine émouvante of a very different nature, represented in his imagination by the theoretical prototype of the Boîte à Miracles. A box which, with different shapes and geometries, materialised the principles of l'espace indicible, and which, beyond remaining on the purely theoretical or evocative plane, as is usually analysed and explained, Le Corbusier tried hard to build in the last stage of his career. Thus, a meticulous deciphering of the architectural, plastic and perceptive mechanisms used by the master in the construction of his longed-for fourth dimension is proposed., [ES] En 1946, en el artículo “L’Architecture et L’Esprit Mathématique” Le Corbusier se definirá a sí mismo como un “aprendiz de grabador de cajas de relojes”, evocando la relación de sus antecedentes familiares con dicha industria y aludiendo, metafóricamente, a la precisión con la que siempre proyectará su arquitectura. Serán las grandes cajas “vacías” uno de los prototipos donde el arquitecto experimente de un modo más intenso la evolución de sus búsquedas espaciales a lo largo de su carrera. El artículo se centra en el análisis de las construidas a partir de 1945, año en que publica su texto L’espace indicible. En ellas los postulados de la machine à habiter purista de los años veinte serán sustituidos, progresivamente, por los de una machine émouvante de muy distinta naturaleza representada en su imaginario por el prototipo teórico de la Boîte à Miracles. Una caja que, con formas y geometrías diversas, materializaba los principios de l’espace indicible, y que, más allá de quedarse en el plano puramente teórico o evocador, como habitualmente se analiza y se explica, Le Corbusier intentó construir denodadamente en la última etapa de su carrera. Así, se propone un minucioso desciframiento de los mecanismos arquitectónicos, plásticos y perceptivos utilizados por el maestro en la construcción de su ansiada cuarta dimensión.

El síndrome de (Gilles de la) Tourette y el trastorno obsesivo compulsivo, son dos patologías neuropsiquiátricas bastante frecuentes a nivel mundial. Se relacionan entre sí mediante un circuito fronto-subcortical, encontrándose con frecuencia simultáneamente en la práctica clínica al compartir bases neuronales en su fisiopatología. Estas han sido extensamente investigadas y cuentan con sus respectivos esquemas de tratamiento, los cuales tienen en general una buena respuesta. No obstante, hay un grupo de pacientes que se mantienen refractarios a los tratamientos actuales, presentando una carga de enfermedad bastante importante, debilitando su calidad de vida y generando disfunción en distintas áreas. La estimulación cerebral profunda es una técnica neuromodulatoria utilizada desde los años 80 en condiciones neurológicas relacionadas a circuitos fronto-subcorticales. En los últimos 20 años ha sido incorporada a la terapéutica del trastorno obsesivo compulsivo y el síndrome de Tourette, con tasas de éxito bastante importantes. Esta revisión pretende brindar un fundamento teórico de la literatura disponible hasta la fecha de la estimulación cerebral profunda para ambas indicaciones. Se expone entonces, las bases biológicas del procedimiento, el perfil del paciente adecuado para tal, la efectividad en ambos trastornos y el perfil de riesgo/beneficio asociado, esto con el propósito de que sirva como base para acelerar la instauración de este procedimiento a nivel nacional. Gilles de la Tourette syndrome and obsessive-compulsive disorder are two neuropsychiatric pathologies very prevalent worldwide. They are interrelated by a fronto-subcortical circuit which they share, making them very comorbid and frequently seen together in daily practice. They have been thoroughly investigated and have their own treatment regimen, which is highly effective in most patients. However, there is a subgroup of patients with refractory presentations for either pathology to current treatments and with a heavy burden of disease, affecting their quality of life and concurrent global disability. Deep brain stimulation is a neuromodulatory technique utilized sin the 80s in a variety of neurologic conditions related to fronto-subcortical circuits. In the last 20 years deep brain stimulation has been incorporated to the therapeutics of obsessive-compulsive disorder and Tourette syndrome, with an extremely high success rate. This review pretends to bring a theoretical foundation based on the available literature to date of deep brain stimulation for both indications. The biological underpinnings, the selection profile of the adequate patient, the effectiveness in both indications and the risk/benefit profile, are exposed in this paper. With the purpose to promote and accelerate the instauration of this procedure nationwide. UCR::Vicerrectoría de Investigación::Sistema de Estudios de Posgrado::Salud::Especialidad en Psiquiatría

Background Persistent motor or vocal tic disorder (PMVT) has been hypothesized to be a forme fruste of Tourette syndrome (TS). Although the primary diagnostic criterion for PMVT (presence of motor or vocal tics, but not both) is clear, less is known about its clinical presentation. Objective The goals of this study were to compare the prevalence and number of comorbid psychiatric disorders, tic severity, age at tic onset, and family history for TS and PMVT. Methods We analyzed data from two independent cohorts using generalized linear equations and confirmed our findings using meta-analyses, incorporating data from previously published literature. Results Rates of obsessive-compulsive disorder (OCD) and attention deficit hyperactivity disorder (ADHD) were lower in PMVT than in TS in all analyses. Other psychiatric comorbidities occurred with similar frequencies in PMVT and TS in both cohorts, although meta-analyses suggested lower rates of most psychiatric disorders in PMVT compared with TS. ADHD and OCD increased the odds of comorbid mood, anxiety, substance use, and disruptive behaviors, and accounted for observed differences between PMVT and TS. Age of tic onset was approximately 2 years later, and tic severity was lower in PMVT than in TS. First-degree relatives had elevated rates of TS, PMVT, OCD, and ADHD compared with population prevalences, with rates of TS equal to or greater than PMVT rates. Conclusions Our findings support the hypothesis that PMVT and TS occur along a clinical spectrum in which TS is a more severe and PMVT a less severe manifestation of a continuous neurodevelopmental tic spectrum disorder. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

We analyze the association between continuously reported urges and tic occurrence / intensity in a sample of 21 patients with Tourette syndrome.

This study investigated whether vitamin D is associated with the presence or severity of chronic tic disorders and their psychiatric comorbidities. This cross-sectional study compared serum 25-hydroxyvitamin D [25(OH)D] (ng/ml) levels among three groups: children and adolescents (3–16 years) with CTD (n = 327); first-degree relatives (3–10 years) of individuals with CTD who were assessed for a period of up to 7 years for possible onset of tics and developed tics within this period (n = 31); and first-degree relatives who did not develop tics and were ≥ 10 years old at their last assessment (n = 93). The relationship between 25(OH)D and the presence and severity of tics, as well as comorbid obsessive–compulsive disorder (OCD) and attention-deficit/hyperactivity disorder (ADHD), were analysed controlling for age, sex, season, centre, latitude, family relatedness, and comorbidities. When comparing the CTD cohort to the unaffected cohort, the observed result was contrary to the one expected: a 10 ng/ml increase in 25(OH)D was associated with higher odds of having CTD (OR 2.08, 95% CI 1.27–3.42, p p = 0.01) and was inversely associated with ADHD symptom severity (β = − 2.52, 95% CI − 4.16–0.88, p

Little is known about the long-term prognosis of children with pediatric acute-onset neuropsychiatric syndrome (PANS). Out of the 46 eligible patients from the Karolinska PANS cohort, 34 consented to participate in a follow-up (median 3.3 years). Participants underwent a thorough clinical evaluation and were classified according to their clinical course. Resulting groups were compared on clinical characteristics and laboratory test results. We observed significant reductions in clinician-rated PANS symptom severity and improved general function. Two patients were classified as remitted, 20 as relapsing–remitting, and 12 as having a chronic-static/progressive course. The latter group had an earlier onset, greater impairment and received more pharmacological and psychological treatments. Although remission was rare, the majority of children with PANS were significantly improved over the follow-up period but a non-negligible minority of patients displayed a chronic-static/progressive course and required additional treatments. The proposed definitions of flare and clinical course may be useful in future clinical trials. Supplementary Information The online version of this article (10.1007/s10578-021-01135-4) contains supplementary material, which is available to authorized users.

Background There is clear evidence that tic disorders (TDs) are associated with psychosocial stress as well as emotional and behavioral problems. Studies have shown that individuals with TDs have higher acute physiological stress responses to external, single stressors (as reflected by saliva cortisol). The aim of the present study was to examine a physiological marker of longer-term stress (as reflected by hair cortisol concentration) in children and adolescents with TDs and unaffected siblings of individuals with TDs. Methods Two samples of a European cohort were included in this study. In the COURSE sample, 412 children and adolescents aged 3–16 years with a chronic TD including Tourette syndrome according to DSM IV-TR criteria were included. The ONSET sample included 131 3–10 years old siblings of individuals with TDs, who themselves had no tics. Differences in hair cortisol concentration (HCC) between the two samples were examined. Within the COURSE sample, relations of HCC with tic severity and perceived psychosocial stress as well as potential effects and interaction effects of comorbid emotional and behavioral problems and psychotropic medication on HCC were investigated. Results There were no differences in HCC between the two samples. In participants with TDs, there were no associations between HCC and tic severity or perceived psychosocial stress. No main effects of sex, psychotropic medication status and comorbid emotional and behavioral problems on HCC were found in participants with TDs. Conclusion A link between HCC and TDs is not supported by the present results.

See Jackson and Jackson (doi:10.1093/brain/awaa050) for a scientific commentary on this article. What causes tics? Rawji et al. use a combination of behavioural tasks, mathematical modelling and non-invasive brain stimulation to show that voluntary inhibition is unimpaired in patients with primary tic disorders. Conversely, automatic inhibition is impaired, and this impairment correlates with motor tic severity., The defining character of tics is that they can be transiently suppressed by volitional effort of will, and at a behavioural level this has led to the concept that tics result from a failure of inhibition. However, this logic conflates the mechanism responsible for the production of tics with that used in suppressing them. Volitional inhibition of motor output could be increased to prevent the tic from reaching the threshold for expression, although this has been extensively investigated with conflicting results. Alternatively, automatic inhibition could prevent the initial excitation of the striatal tic focus—a hypothesis we have previously introduced. To reconcile these competing hypotheses, we examined different types of motor inhibition in a group of 19 patients with primary tic disorders and 15 healthy volunteers. We probed proactive and reactive inhibition using the conditional stop-signal task, and applied transcranial magnetic stimulation to the motor cortex, to assess movement preparation and execution. We assessed automatic motor inhibition with the masked priming task. We found that volitional movement preparation, execution and inhibition (proactive and reactive) were not impaired in tic disorders. We speculate that these mechanisms are recruited during volitional tic suppression, and that they prevent expression of the tic by inhibiting the nascent excitation released by the tic generator. In contrast, automatic inhibition was abnormal/impaired in patients with tic disorders. In the masked priming task, positive and negative compatibility effects were found for healthy controls, whereas patients with tics exhibited strong positive compatibility effects, but no negative compatibility effect indicative of impaired automatic inhibition. Patients also made more errors on the masked priming task than healthy control subjects and the types of errors were consistent with impaired automatic inhibition. Errors associated with impaired automatic inhibition were positively correlated with tic severity. We conclude that voluntary movement preparation/generation and volitional inhibition are normal in tic disorders, whereas automatic inhibition is impaired—a deficit that correlated with tic severity and thus may constitute a potential mechanism by which tics are generated.

Trabajo fin de máster. Defendido en febrero de 2022. El Síndrome de Tourette es un Trastorno del Neurodesarrollo conformado por tics motores y vocales que puede afectar a la socialización. Las interacciones sociales son cruciales en el desarrollo de la identidad. Los objetivos de esta revisión son: estudiar la calidad de las relaciones sociales de los menores con Síndrome de Tourette y los factores asociados, estudiar el ajuste social en función del periodo evolutivo y las consecuencias de esto. Los resultados muestran que las interacciones sociales tienden a ser negativas debido a los tics, patologías comórbidas y desinformación. La victimización es frecuente, especialmente en forma de rechazo social. Es necesaria una mayor investigación acerca de los cambios según el periodo evolutivo del menor. Abstract: Tourette’s Syndrome is a Neurodevelopmental Disorder characterized by motor and vocal tics, that could affect social relationships. Social interactions are crucial in the development of an identity. The aims of this review are: to study the quality of social interaction of children with Tourette’s Syndrome, and the factors associated, to study the social adjustment in relation with the age of these children, and the consequences this may have. The results show that social interactions tend to be negative because of the tics, comorbidities and misinformation. Victimization of these children is typical, especially social rejection. It is needed a deeper investigation about the changes that social interactions may have as these children get older. Ordenador con navegador de Internet ; Adobe Acrobat Reader 47 p. (Según el contador de la aplicación)

Original data and analysis scripts of a study on urge-tic associations in children and adolescents with GTS.

Background It is unclear how to best measure the complex symptom presentation of pediatric acute-onset neuropsychiatric syndrome (PANS). Methods Well-characterized participants of a 2–5 year follow-up study (n = 34; 56% male) underwent clinical evaluations and completed scales assessing global symptom severity, functional impairment and specific psychiatric symptoms. We explored inter-correlations between the measures and used intraclass correlation coefficients to evaluate the agreement between clinician-, parent- and child ratings of the same constructs. Results Ratings on symptom-specific measures varied largely between participants. Agreement between informants was excellent on functional scales, fair-to-moderate on global severity scales and mixed on symptom-specific scales. Clinician-rated global and functional measures had stronger inter-correlations with parent- and child-rated functional measures than with symptom-specific measures. Conclusions General instruments assessing global severity and functioning are well suited for the assessment and follow-up of PANS, but should be complemented by symptom-specific scales representative of core symptoms.

BackgroundPersistent motor or vocal tic disorder (PMVT) has been hypothesized to be a forme fruste of Tourette syndrome (TS). Although the primary diagnostic criterion for PMVT (presence of motor or vocal tics, but not both) is clear, less is known about its clinical presentation.ObjectiveThe goals of this study were to compare the prevalence and number of comorbid psychiatric disorders, tic severity, age at tic onset, and family history for TS and PMVT.MethodsWe analyzed data from two independent cohorts using generalized linear equations and confirmed our findings using meta-analyses, incorporating data from previously published literature.ResultsRates of obsessive-compulsive disorder (OCD) and attention deficit hyperactivity disorder (ADHD) were lower in PMVT than in TS in all analyses. Other psychiatric comorbidities occurred with similar frequencies in PMVT and TS in both cohorts, although meta-analyses suggested lower rates of most psychiatric disorders in PMVT compared with TS. ADHD and OCD increased the odds of comorbid mood, anxiety, substance use, and disruptive behaviors, and accounted for observed differences between PMVT and TS. Age of tic onset was approximately 2 years later, and tic severity was lower in PMVT than in TS. First-degree relatives had elevated rates of TS, PMVT, OCD, and ADHD compared with population prevalences, with rates of TS equal to or greater than PMVT rates.ConclusionsOur findings support the hypothesis that PMVT and TS occur along a clinical spectrum in which TS is a more severe and PMVT a less severe manifestation of a continuous neurodevelopmental tic spectrum disorder. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

“Construir arquitectura de hombres” o “es el hombre lo que verdaderamente me importa” son frases que Le Corbusier repite frecuentemente. Su producción se podría entender como una consecuencia del entendimiento de “ese hombre” y del orden social que conforma. Ambos irán evolucionando a lo largo de la vida del arquitecto y, como consecuencia, las propuestas artísticas y arquitectónicas que realiza para él. El Homme type lecorbusieriano de los años 20 y 30 es concebido, bajo el influjo de la revolución industrial de estas primeras décadas del siglo XX, como una pieza más en el preciso engranaje de la gran maquinaria de la ciudad de los tiempos nuevos. El fracaso de los planteamientos sociales y económicos, representado por las dos guerras mundiales, así como determinadas circunstancias personales, provocan una progresiva variación de esta visión hacia una concepción del hombre en términos opuestos. El Homme type varía progresivamente hacia el Homme réel del periodo de postguerra cuyo desarrollo es confiado a nuevas variables como la “libertad”, la “espontaneidad” o la “creatividad”. Será en la década de los 50, en el convento de la Tourette, donde encuentre finalmente la oportunidad de reflexionar y presentar de una manera biunívoca su hombre y arquitectura ideales. = “Constructing the architecture of men” or “men are the ones who truly matters” are phrases that Le Corbusier repeats frequently. His work could be understood as a consequence of his understanding of “this man” and the social order he supports. Both ideas evolve throughout the life of the architect and as a consequence so will the artistic and architectural proposals realized in his name.The Homme type Le Corbusier of the 20s and 30s is conceived under the influence of the industrial revolution of the first decades of the 20th century as another piece in the precise gear of the great machinery in the city of the new times. The failure of the social and economic approaches, represented by the two world wars, as well as some determined personal circumstances provoke a progressive variation of this vision towards a conception of man in opposite terms. The Homme type varies progressively towards the Homme réel of the postwar period whose development upholds new variables including “freedom, “spontaneity” and “creativity.” It was in the decade of the 50s, in the convent of la Tourette, where he finally realizes the opportunity to reflect and to present in a dual manner his ideals of men and architecture. &nbsp

Neuropsychiatric disorders are highly prevalent conditions with significant individual, societal, and economic impacts. A major challenge in the diagnosis and treatment of these conditions is the lack of sensitive, reliable, objective, quantitative tools to inform diagnosis, and measure symptom severity. Currently available assays rely on self-reports and clinician observations, leading to subjective analysis. As a step toward creating quantitative assays of neuropsychiatric symptoms, we propose an immersive environment to track behaviors relevant to neuropsychiatric symptomatology and to systematically study the effect of environmental contexts on certain behaviors. Moreover, the overarching theme leads to connected tele-psychiatry which can provide effective assessment.

Although genetic variation is a major risk factor of neurodevelopmental disorders (NDDs) such as tics and childhood obsessive-compulsive disorder (OCD), environmental factors during pregnancy and early life are important in disease expression. Epidemiological studies and animal models indicate maternal inflammation is one potential environmental factor. In my thesis, I compared the frequency of proinflammatory states in mothers of 200 children with tics/OCD with 100 autoimmune neurological controls and 100 age- and sex-matched healthy controls. I prospectively recruited children with tics/OCD aged ≤16 years sequentially referred to the Children’s Hospital at Westmead, and used a structured interview to capture data, focusing on maternal autoimmunity. Children with tics/OCD were phenotyped to identify associations with maternal autoimmunity, and exploratory biomarker testing and transcriptome analysis were performed in a subgroup of mothers to identify immune pathways potentially relevant to neurodevelopment in offspring. A total of 61 (30.5%) mothers of children with tics/OCD had autoimmune disease compared with 20 (20%) mothers of children with autoimmune neurological conditions (p=0.054) and 12 (12%) mothers of healthy controls (p=0.0004, adj OR 2.7 (95th CI 1.28-5.68)). Other proinflammatory states were also more common in mothers of children with tics/OCD than mothers of healthy controls (p

Background: Tourette syndrome (TS) manifests with motor and vocal tics that can reach disabling intensity. Established therapies may show insufficient relief or side effects. Cannabinoids have demonstrated therapeutic potential in small studies. This report presents buccal Nabiximols “as required” in the treatment of tics in TS. Case report: A 25-year-old man presented with stigmatizing motor and phonic tics after cessation of daily Cannabis use. After Tiaprid 300 mg per day had shown no sufficient effect a trial of Nabiximols reduced tics by >90%. Discussion: Nabiximols could be an adjunct treatment in TS for situations were tics are severly disabling.

Tourette ‘s syndrome (TS) currently has very limited FDA approved treatment options, despite the fact that TS and other pediatric tic disorders are not uncommon and can cause significant emotional and physical distress for patients and their families. For providers who regularly see these conditions in practice this inadequacy is highly frustrating on the treatment side as there are such limited options to offer to these families, and the outcome to hope for is not highly optimistic. The outcome of this case presentation is an example of how health care providers can use clinical knowledge in combination with evidence-based practice to advocate for their patients and find new solutions that could be, and in this case were, life changing. It promotes providers to advocate for their patients and expand their knowledge. The final medication treatment utilized in this case is currently off label, however the method of finding and obtaining the treatment explained in the case additionally reveal to readers how to cautiously but judiciously make off label treatment decisions that can be important to practice and patient outcomes. In the course of this case the off-label medication use decision was backed by scientific literature and ongoing FDA studies as well as consulting with a collaborating psychiatrist. The subject matter and method of reasoning within this case also promote psychiatric providers use of evidence-based practice and implementation of science into active practice., Highlights • Tourette’s Syndrome can cause significant emotional and physical distress, but has limited FDA approved treatment options. • VMAT2 inhibitors are FDA approved for other hyperkinetic disorders and tetrabenazine was effective in 2 open label TS trials. • In this case valbenazine compellingly improved Tourette’s symptoms (91% reduction in AIMS), as well as quality of life. • AIMS score improvement went from 23 pre-treatment to 2 pos-treatment with valbenazine (91.3% reduction)

Objective: The goal of this article is to review the past decade's literature and provide a critical commentary on the involvement of immunological mechanisms in normal brain development, as well as its role in the pathophysiology of Tourette syndrome, other Chronic tic disorders (CTD), and related neuropsychiatric disorders including Obsessive-compulsive disorder (OCD) and Attention deficit hyperactivity disorder (ADHD). Methods: We conducted a literature search using the Medline/PubMed and EMBASE electronic databases to locate relevant articles and abstracts published between 2009 and 2020, using a comprehensive list of search terms related to immune mechanisms and the diseases of interest, including both clinical and animal model studies. Results: The cellular and molecular processes that constitute our "immune system" are crucial to normal brain development and the formation and maintenance of neural circuits. It is also increasingly evident that innate and adaptive systemic immune pathways, as well as neuroinflammatory mechanisms, play an important role in the pathobiology of at least a subset of individuals with Tourette syndrome and related neuropsychiatric disorders In the conceptual framework of the holobiont theory, emerging evidence points also to the importance of the "microbiota-gut-brain axis" in the pathobiology of these neurodevelopmental disorders. Conclusions: Neural development is an enormously complex and dynamic process. Immunological pathways are implicated in several early neurodevelopmental processes including the formation and refinement of neural circuits. Hyper-reactivity of systemic immune pathways and neuroinflammation may contribute to the natural fluctuations of the core behavioral features of CTD, OCD, and ADHD. There is still limited knowledge of the efficacy of direct and indirect (i.e., through environmental modifications) immune-modulatory interventions in the treatment of these disorders. Future research also needs to focus on the key molecular pathways through which dysbiosis of different tissue microbiota influence neuroimmune interactions in these disorders, and how microbiota modification could modify their natural history. It is also possible that valid biomarkers will emerge that will guide a more personalized approach to the treatment of these disorders.

International audience; The brain is composed of several neural circuits which may be seen as anatomical complexes composed of grey matter structures interconnected by white matter tracts. Grey and white matter components may be modelled as 3D surfaces and curves respectively. Neurodevelopmental disorders involve morphological and organizational alterations which can not be jointly captured by usual shape analysis techniques based on single diffeomorphisms. We propose a new deformation scheme, called double diffeomorphism, which is a combination of two diffeomorphisms. The first one captures changes in structural connectivity, whereas the second one recovers the global morphological variations of both grey and white matter structures. This deformation model is integrated into a Bayesian framework for atlas construction. We evaluate it on a data-set of 3D structures representing the neural circuits of patients with Gilles de la Tourette syndrome (GTS). We show that this approach makes it possible to localise, quantify and easily visualise the pathological anomalies altering the morphology and organization of the neural circuits. Furthermore, results also indicate that the proposed deformation model better discriminates between controls and GTS patients than a single diffeomorphism.

Tic disorders are neurodevelopmental disorders characterised by the presence of motor or phonic tics, or both. Patients with tic disorders commonly report premonitory urges of tics. Alexithymia is a psychological trait characterised by a difficulty in identifying and expressing one's own feelings and by an externally oriented thinking. We aimed to explore alexithymia in children with tic disorders and in their mothers. Global alexithymia scores of both children with tic disorders and of their mothers did not differ from those of the participants from the control group. In the tic disorder group, however, both children and their mothers showed a cognitive style characterised by operational thinking and a lack of imaginative abilities. The mothers of children with tic disorder reported significantly higher parental stress. Alexithymia was not predictive of tic severity but was predictive of the severity of the premonitory urges. The implications of these findings are discussed.

L’objet de cet article est de présenter les avancées scientifiques concernant le syndrome de Gilles de la Tourette (SGT), dans l’optique où il fait partie de la nouvelle section des troubles neurodéveloppementaux du DSM-5. La définition et la symptomatologie des troubles tic, et particulièrement du SGT, sont présentées. Les troubles associés, ainsi que l’évaluation diagnostique et différentielle sont abordés sous l’angle clinique et neuropsychologique. Enfin, les traitements recommandés, et s’appuyant sur des données probantes, sont présentés de manière à outiller les professionnels et les psychologues, tout en les informant des principaux modèles conceptuels permettant une meilleure compréhension clinique des tics., The object of this article is to present scientific advances on Tourette disorder (TD) in regards to the new section of the DSM-5“ neurodevelopmental disorders”. The definition and symptomatology of tics disorders, and particularly TD, are presented. The comorbidities, as well as the diagnostic and differential evaluation are presented under a clinical and a neuropsychological point of view. Finally, recommended treatments and evidence-based practices are presented to guide professionals and psychologists, as well as to inform them about the principals conceptual models leading to a better clinical understanding of tics.

Background Obsessive-compulsive disorder (OCD) is a debilitating neuropsychiatric disorder with a genetic risk component, yet identification of high-confidence risk genes has been challenging. In recent years, risk gene discovery in other complex psychiatric disorders has been achieved by studying rare de novo (DN) coding variants. Methods We performed whole-exome sequencing in 222 OCD parent-child trios (184 trios after quality control), comparing DN variant frequencies with 777 previously sequenced unaffected trios. We estimated the contribution of DN mutations to OCD risk and the number of genes involved. Finally, we looked for gene enrichment in other datasets and canonical pathways. Results DN likely gene disrupting and predicted damaging missense variants are enriched in OCD probands (rate ratio, 1.52; p = .0005) and contribute to risk. We identified 2 high-confidence risk genes, each containing 2 DN damaging variants in unrelated probands: CHD8 and SCUBE1. We estimate that 34% of DN damaging variants in OCD contribute to risk and that DN damaging variants in approximately 335 genes contribute to risk in 22% of OCD cases. Furthermore, genes harboring DN damaging variants in OCD are enriched for those reported in neurodevelopmental disorders, particularly Tourette’s disorder and autism spectrum disorder. An exploratory network analysis reveals significant functional connectivity and enrichment in canonical pathways, biological processes, and disease networks. Conclusions Our findings show a pathway toward systematic gene discovery in OCD via identification of DN damaging variants. Sequencing larger cohorts of OCD parent-child trios will reveal more OCD risk genes and will provide needed insights into underlying disease biology.

Background: A significant proportion of patients with Tourette syndrome (TS) continue to experience symptoms across adulthood that in severe cases fail to respond to standard therapies. For these cases, deep brain stimulation (DBS) is emerging as a promising treatment option. Objective: We conducted a systematic literature review to evaluate the efficacy of DBS for GTS. Methods: Individual data of case reports and series were pooled; the Yale Global Tic Severity Scale (YGTSS) was chosen as primary outcome parameter. Results: In total, 57 studies were eligible, including 156 cases. Overall, DBS resulted in a significant improvement of 52.68% (IQR = 40.74, p

Background: Autism spectrum disorder (ASD), tic disorder (TD), and hyperkinetic syndrome of childhood (attention deficit disorder [ADD]/attention deficit hyperactivity disorder [ADHD]) are disorders recently defined as abnormal connectivity spectrum disorders (ACSDs) because they show a similar pattern of abnormal brain connectivity. This study examines whether these disorders are associated with exposure to thimerosal, a mercury (Hg)-based preservative. Methods: A hypothesis testing case-control study evaluated the Vaccine Safety Datalink for the potential dose-dependent odds ratios (ORs) for diagnoses of ASD, TD, and ADD/ADHD compared to controls, following exposure to Hg from thimerosal-containing Haemophilus influenzae type b vaccines administrated within the first 15 months of life. Febrile seizures, cerebral degeneration, and unspecified disorders of metabolism, which are not biologically plausibly linked to thimerosal, were examined as control outcomes. Results: On a per 25 μg Hg basis, cases diagnosed with ASD (OR = 1.493), TD (OR = 1.428), or ADD/ADHD (OR = 1.503) were significantly (P < .001) more likely than controls to have received increased Hg exposure. Similar relationships were observed when separated by gender. Cases diagnosed with control outcomes were no more likely than controls to have received increased Hg exposure. Conclusion: The results suggest that Hg exposure from thimerosal is significantly associated with the ACSDs of ASD, TD, and ADD/ADHD.

Background: Tic suppression is the primary target of tic disorder treatment, but factors that influence voluntary tic inhibition are not well understood. Several studies using the Tic Suppression Task have demonstrated significant inter-individual variability in tic suppressibility but have individually been underpowered to address correlates of tic suppression. The present study explored patterns and clinical correlates of tic suppression in youth with tic disorders using a large, pooled dataset.Methods: Individual-level data from 9 studies using the Tic Suppression Task were pooled, yielding a sample of 99 youth with tic disorders. Analyses examined patterns of tic suppressibility and the relationship between tic suppressibility and demographic and clinical characteristics.Results: A large majority of youth demonstrated a high degree of tic suppression, but heterogeneous patterns of tic suppressibility were also observed. Better tic suppressibility was related to older age and more frequent tics but unrelated to other clinical variables, including presence of psychiatric comorbidity, psychotropic medication status, and tic and premonitory urge severity.Conclusions: The mechanisms underlying the observed heterogeneity in tic suppressibility warrant further investigation. The Tic Suppression Task is a promising method for testing mechanistic hypotheses related to tic suppression.

This paper examined neurocognitive functioning and its relationship to behavior treatment response among youth with Tourette's Disorder (TD) in a large randomized controlled trial. Participants diagnosed with TD completed a brief neurocognitive battery assessing inhibitory functions, working memory, and habit learning pre- and post-treatment with behavior therapy (CBIT, Comprehensive Behavioral Intervention for Tics) or psychoeducation plus supportive therapy (PST). At baseline, youth with tics and Attention Deficit Hyperactivity Disorder (ADHD) exhibited some evidence of impaired working memory and simple motor inhibition relative to youth with tics without ADHD. Additionally, a small negative association was found between antipsychotic medications and youth's performance speed. Across treatment groups, greater baseline working memory and aspects of inhibitory functioning were associated with a positive treatment response; no between-group differences in neurocognitive functioning at post-treatment were identified. Within the behavior therapy group, pre-treatment neurocognitive status did not predict outcome, nor was behavior therapy associated significant change in neurocognitive functioning post-treatment. Findings suggest that co-occurring ADHD is associated with some impairments in neurocognitive functioning in youth with Tourette's Disorder. While neurocognitive predictors of behavior therapy were not found, participants who received behavior therapy exhibited significantly reduced tic severity without diminished cognitive functioning.

Das Tourette Syndrom (TS) ist eine neuropsychiatrische Störung, deren klinische Hauptmerkmale motorische Tics und mindestens ein vokaler Tic sind. Neuropsychologische und emotionale Auffälligkeiten werden am ehesten den häufigen Komorbiditäten wie Aufmerksamkeitsdefizit-Hyperaktivitäts-Störung (ADHS), Zwangs- und Angststörungen und affektiven Störungen zugerechnet. Schon früh konnte durch Zwillingsstudien eine genetische Komponente des TS gezeigt werden. Diese zeigten keine 100%ige Konkordanz. Somit muss man von einer koexisitierenden, epigenetischen Komponente ausgehen. In mehreren Studien wurden prä- und perinatale Risikofaktoren als Auslöser des Tourette Syndroms diskutiert. Diese Ergebnisse ermöglichen allerdings keine Aussage über das Outcome des Tourette Syndroms im Erwachsenenalter. Diese Studie zielt u.a. darauf ab, Prädiktoren für das Outcome von TS-Patienten im Erwachsenenalter zu definieren. Wir beschäftigten uns vor allem mit den motorischen Defiziten im Kindesalter und der Frage ob diese positiv mit dem Ticschweregrad im Erwachsenenalter korrelieren und ob TS Patienten häufiger motorische Defizite als gesunde, altersgematchte Kontrollen aufweisen. Zudem wollten wir die Hypothese, ob TS Patienten im Erwachsenenalter vermehrt Verhaltensauffälligkeiten, emotionale Probleme und somatische Beschwerden aufweisen als gesunde Kontrollprobanden, diskutieren. Es wurden retrospektiv die Daten von 96 Kindern und Jugendlichen mit TS (84 Jungen, 12 Mädchen) und 80 Kindern und Jugendlichen (72 Jungen, 8 Mädchen) mit chronischen Tic-Störungen erfasst (89,04 % chronisch motorische Tic-Störung und 10,95% chronisch vokale Tic-Störung) die in den Jahren 2002-2012 in der Institutsambulanz der Klinik für Kinder- und Jugendpsychiatrie Ulm behandelt worden waren. Es wurden die körperlichen Untersuchungsbefunde ausgewertet, so wie sie in der klinisch-neurologischen Routinediagnostik erhoben worden waren. Prospektiv wurden 25 junge Erwachene (15 mit Tourette Syndrom, 10 mit chronischer Tic-Störung) im Alter von 16-28 Jahren (Durchschnittsalter 20,23 Jahre) aus diesem retrospektiven Datensatz nachuntersucht und mit 23 gesunden, gleichaltrigen Kontrollprobanden (Durchschnittsalter 20,56 Jahre) verglichen. Bei der Nachuntersuchung wurden mehrere psychologische Tests durchgeführt: Yale Global Tic Severity Score (YGTSS), Gilles-de-la-Tourette-Quality-of-Life-Fragebogen (GTS-QoL), Premonitory Urge for Tic Scale (PUTS), Child Behaviour Checklist (CBCL), Diagnostic System for psychiatric disorders in childhood and adolescence (Dysips) für die Aufmerksamkeitsdefizit-Hyperaktivität-Störung (ADHS), ADHS Screening für Erwachsene (ASRS-V1.1), Wender Utah Rating Scale for ADHS (WURS ADHS), Young Adult Self Report (YSR), strukturiertes klinisches Interview zur Erfassung von Persönlichkeitsstörungen (SKID II) und 3 Untertests des Wechsler Intelligenztests für Erwachsene. Die Feinmotorik und Koordination untersuchten wir anhand des physical and neurological examination of soft signs Fragebogen (PANESS), des Purdue Pegboards und einer neurologischen Routineuntersuchung. Von 96 Kindern und Jugendlichen mit Tourette Syndrom (TS) zeigten in der neurologischen Untersuchung 30 Patienten (31%) motorische Auffälligkeiten. Bei den 80 Patienten mit chronischen Tic-Störungen wiesen 24 (30%) motorische Defizite auf. 41,46 % der Patienten mit chronischer Tic-Störung und komorbider ADHS wiesen ein motorisches Defizit auf, bei Patienten mit alleiniger chronischer Tic-Störung ohne ADHS waren es nur 17,95%. Dieser Unterschied ist statistisch signifikant. Zwischen TS-Patienten mit komorbider ADHS und Patienten mit alleinigem TS zeigte sich kein signifikanter Unterschied bezüglich der Häufigkeit motorischer Defizite. Die Hypothese, dass motorische Defizite in der Kindheit mit dem Outcome des Ticschweregrades im Erwachsenenalter positiv korrelieren, konnten wir nicht statistisch belegen. Allerdings konnten wir Tendenzen in diese Richtung aufzeigen. Wir konnten im prospektiven Teil mittels Purdue Pegboard statistisch belegen, dass erwachsene TS-Patienten gesunden Kontrollprobanden in der feinmotorischen Testung bei Gebrauch der rechten Hand unterlegen waren. Wir fanden, dass die Eltern von TS Patienten in der Child-Behaviour-Checklist (CBCL) signifikant häufiger den notwendigen Cut-Off-Wert erreichten, als Eltern von gesunden, gematchten Kontrollprobanden. In unserer Studienpopulation fanden wir ausserdem eine positive Korrelation zwischen Ticschweregrad, errechnet mittels YGTSS, und dem Gesamt T-Wert sowie dem internalisierenden T-Wert des CBCL. Erfreulicherweise konnten wir keinen signifikanten Unterschied zwischen der Lebenszufriedenheit der TS Patienten verglichen mit gleichaltrigen gesunden Kontrollprobanden feststellen. Es sind umfangreichere Studien notwendig, um die Einflussfaktoren, die für das Outcome des Tourette Syndroms im Erwachsenenalter verantwortlich sind, zu identifizieren. Diese Erkenntnisse können die Versorgung und die Behandlung von TS Patienten deutlich verbessern.

Tämän laadullisen tutkimuksen tavoitteena on kartoittaa sitä, miten pirkanmaalaiset neuropsykiatrisista haasteista kärsivien lasten ja nuorten vanhemmat kokevat arjen ja siihen saadun tuen. Tutkielmassa selvitetään, millaisena nämä vanhemmat ovat arjen kokeneet, miten he kokevat tarjotut tukitoimet ja mitä he toivoisivat tulevaisuuden palveluilta. Tutkielma on toteutettu yhdessä Pirkanmaan lapsi- ja perhepalveluiden muutosohjelman, LAPE-hankkeen kanssa. Tutkimuksen aineisto kerättiin kahdella tapaa. Aineistoa kerättiin sähköisellä kyselylomakkeella, jossa oli kahdeksan avointa kysymystä. Tähän vastasi 41 vanhempaa. Lisäksi aineistoa täydennettiin kirjoituspyynnöllä, johon vastasi kaksi äitiä. Aineisto analysoitiin sisällönanalyysin keinoin, käyttäen niin teoriaohjaavaa analyysia kuin aineistolähtöistä analyysia. Teoriaohjaavana analyysissa käytettiin sosiaalisen tuen määritelmää. Vanhemmat kokevat arkensa melko kuormittavana ja raskaanakin. He toivovat palvelujärjestelmältä enemmän osaamista neuropsykiatrisien erityispiirteiden suhteen, nopeampaa pääsyä tuen piiriin, vanhempien asiantuntijuutta arvostavaa kohtaamista ja kokonaisvaltaisia, perheen tarpeet kohtaavaa tukiverkkoa. Palvelujärjestelmältä toivotaan nopeaa, matalan kynnyksen reagointia arkea kuormittaviin haasteisiin ja perheen kokonaisvaltaista kohtaamista. Toteutuessaan sosiaalinen tuki vastaa hyvin näihin toiveisiin.

Gilles de la Tourette syndrome (TS) is a complex developmental neuropsychiatric condition in which motor manifestations are often accompanied by comorbid conditions that impact the patient’s quality of life. In the DSM-5, TS belongs to the “neurodevelopmental disorders” group, together with other neurodevelopmental conditions, frequently co-occurring. In this study, we searched the PubMed database using a combination of keywords associating TS and all neurodevelopmental diagnoses. From 1009 original reports, we identified 36 studies addressing TS and neurodevelopmental comorbidities. The available evidence suggests the following: (1) neurodevelopmental comorbidities in TS are the rule, rather than the exception; (2) attention deficit/hyperactivity disorder (ADHD) is the most frequent; (3) there is a continuum from a simple (TS + ADHD or/and learning disorder) to a more complex phenotype (TS + autism spectrum disorder). We conclude that a prompt diagnosis and a detailed description of TS comorbidities are necessary not only to understand the aetiological basis of neurodevelopmental disorders but also to address specific rehabilitative and therapeutic approaches.

Tic-Störungen sind ein häufiges Krankheitsbild im Kindes- und Jugendalter. Der Verlauf der Erkrankung ist in den meisten Fällen durch einen wellenförmigen Verlauf mit abwechselnden Phasen der Exazerbation und Remission charakterisiert. Die Ausprägung der Symptomatik hängt dabei sowohl von internen wie auch externen Faktoren ab. Insbesondere Stress als äußerer Einflussfaktor spielt in diesem Zusammenhang eine entscheidende Rolle. Unsere Studie untersucht mittels simultaner Aufnahme von EEG und fMRT die neurophysiologischen Mechanismen, die diesem vermehrten Auftreten von Tics in Phasen verstärkten psychosozialen Stresses zugrunde liegen. Dazu wurden 16 Patienten sowie 20 gesunde Probanden im Alter von 8 bis 14 Jahren in einem CNV-Paradigma mit und ohne Stress untersucht und die Daten hinsichtlich der Aktivität diesbezüglich relevanter neuronaler Netzwerke analysiert. In der CNV-Untersuchung zeigte sich eine defizitäre Ressourcenmobilisation unter emotionaler Belastung einhergehend mit einer verstärkten Ausprägung der Tic-Störung. Die Exazerbation von Tics in Situationen starker emotionaler Anspannung scheint begründet zu sein in einer unzureichenden Kontrolle über kognitive und emotionale Prozesse. Entsprechend dem verminderten Anstieg der CNV unter emotionaler Belastung zeigte sich im fMRT eine verstärkte Mobilisation subkortikaler Strukturen (Putamen, Globus Pallidus) sowie des IFG, hinweisend auf Alterationen in Regelkreisen der motorischen Inhibition. Im Bezug auf Therapieoptionen legen die Ergebnisse unsere Studie nahe, dass Interventionen zur Förderung der Selbstkontrolle bzw. der Fähigkeit der Patienten die Tics zu unterdrücken besonders erfolgversprechend sein könnten. Ein besonderes Augenmerk sollte in diesem Zusammenhang auf den Faktor Stress gelegt werden. Zur weiteren Evaluation der Fragestellung wären Langzeitstudien mit stärker betroffenen, idealerweise unmedizierten Patienten wünschenswert. Vorstellbar wäre des Weiteren die Analyse zusätzlicher fMRT-Paradigmen und auch der Einbezug weiterer Untersuchungsmethoden.

Tourette syndrome (TS) is a highly heritable yet heterogeneous childhood onset disorder. The cardinal movement disorder required for diagnosis is tics. As persons with tics or TS often have obsessive/compulsiveness, inattention, hyperactivity, impulsivity, anxiety, and anger outbursts, the presence of tics should prompt clinicians to look for these other conditions. While randomized controlled trials provide valid evidence of efficacy for symptoms in isolation, implications for treatment of complex patients meeting criteria for multiple diagnoses is not always clear. In this review, the authors critically review factors influencing decisions whether and how to treat medically tics as well as OCD and ADHD in the presence of tics.

Movement disorders presenting in childhood are often complex and a heterogenous group of difficulties which can be a minefield for the primary care doctor. The recent activities of the European Society for the Study of Tourette Syndrome (ESSTS) have included publication of European clinical guidelines for Tourette syndrome and other Tic disorders aimed at guiding paediatricians and psychiatrists in managing these children. This paper aims to summarise the key points for primary care teams and impart important facts and general information on related childhood movement disorders in early development.

El síndrome Gilles de Tourette es un trastorno neurológico, donde predominan los tics motores y vocales crónicos, ya sean simples o complejos. Comúnmente, tiene comorbilidad con el trastor-no obsesivo compulsivo y el déficit de atención. Las técnicas de neuroimagen han sugerido un mal funcionamiento de los ganglios basales y el cir-cuito dopaminérgico en la generación de los tics, este registro es indispensable para el diagnóstico. En relación al compromiso cognitivo, se reporta afectación en las funciones ejecutivas, sumado al deterioro en las habilidades perceptivas, vi-suo-constructivas y en la memoria de trabajo, ade-más de las alteraciones en lenguaje, motricidad y atención. En la mayoría de los casos, el trata-miento requiere intervención farmacológica, pues el síndrome produce regularmente una disfuncio-nalidad en distintas áreas de la cotidianidad del sujeto, así el uso de neurolépticos ha demostrado mayor eficacia, ya que bloquean los receptores de la dopamina. De igual forma, es recomendable el acceso a una terapia cognitivo-conductual por parte del paciente y sus familiares a fin de recibir un tratamiento de rehabilitación integral. Gilles de Tourette syndrome is a neurological disorder, where chronic mo-tor and vocal tics predominate, whether simple or complex; Commonly, has comorbidity with obsessive-compulsive disorder and attention deficit. Neu-roimaging techniques have suggested a malfunction of the basal ganglia and dopaminergic circuit in the generation of tics, this registry is indispensable for the diagnosis. In relation to the cognitive processes, affectation is repor-ted in the executive functions, added to the deterioration in the perceptive, visoconstructive abilities and in the work memory, besides the alterations in the language, the motricity and the attention. In most cases, the treatment requires pharmacological intervention, as the syndrome regularly produces a dysfunction in different areas of the subject’s daily life, so the use of neuro-leptics has been shown to be more effective, since they block dopamine recep-tors; Similarly, access to cognitive-behavioral therapy by the patient and his relatives, is recommended in order to receive a comprehensive rehabilitation treatment.

Motor and vocal tics are the core symptom of Tourette syndrome (TS). Tic generation seems to develop throughout the known motor pathways. This review focuses on functional neuroimaging in order to check this assumption. Also it elucidates the alterations and interactions of motor networks in TS depending on different contexts and circumstances like resting state, spontaneous tic movements, suppression of tics and premonitory urges, voluntary goal-oriented movements as well as electrophysiological neuronal stimulation. In general, the primary tic generating motor network uses the basic motor pathways differently, interacts with secondary sensorimotor networks and neuronal systems of cognitive behavioural control in a merely hierarchical manner, changing during neurodevelopment.

Tourette syndrome is a neurologic condition characterized by both motor and phonic tics and is typically associated with psychiatric comorbidities, including obsessive-compulsive disorder/behavior and attention deficit hyperactivity disorder and can be psychologically and socially debilitating. It is considered a disorder of the cortico-striato-thalamo-cortical circuitry, as suggested by pathophysiology studies and therapeutic options. Among these, deep brain stimulation of the centromedian-parafascicular nuclear complex (CM-Pf) of the thalamus is emerging as a valuable treatment modality for patients affected by severe, treatment resistant TS. Here we review the most recent experimental evidence for the pivotal role of CM-Pf in the pathophysiology of Tourette syndrome, discuss potential mechanisms of action that may mediate the effects of CM-Pf deep brain stimulation in Tourette syndrome, and summarize its clinical efficacy.

Tourette’s syndrome (TS) is a neurodevelopmental disorder typically defined by multiple motor tics and at least one sound tic (1), beginning in childhood or in adolescence. More recently, Tourette’s syndrome has been acknowledged as a broad spectrum syndrome (2), including different comorbidities and coexisting symptoms. When beginning in early childhood TS mainly presents with attention deficit and hyperactivity disorder (ADHD) and tics, when beginning in adolescence instead tics and obsessive-compulsive behavior or disorder (OCB/OCD) are predominant. OCB/OCD trait is present in 60-80% of patients (3), and they are considered as thought tics (4). In many cases motor and sound tics resolve spontaneously in adulthood, though OCB/OCD generally remain. Tics often interfere with subject’s daily activities (5) affecting Quality of Life and causing Social Impairment, particularly in schooling and working. Handwriting is one of the most impaired school activity for TS patients because of the tics presence that hamper learning processes. In our clinical experience handwriting tics (HT) could severely affect and condition TS subjects, but they are not often pointed out in the Literature. For this reason there are not precise data regarding the incidence of HT neither in Tourette’s syndrome patients nor in healthy population.

Tourette’s syndrome (TS) is a neurodevelopmental disorder typically defined by multiple motor tics and at least one sound tic, beginning in childhood or in adolescence. Handwriting is one of the most impaired school activities for TS patients because of the presence of tics that hamper learning processes. In this paper, we present a case of handwriting tics in a TS patient highlighting the main features.

The first World Congress on Tourette Syndrome and Tic Disorders was held in London, June 2016 by the Tourette Association of America, Tourettes Action (UK), and the European Society for the Study of Tourette Syndrome. Presentations arising from large-scale collaborative projects were an important component of the scientific programme. This article focuses on areas raised in the hot topics session and two moderated debates, which covered emerging research in etiology and treatment. The hot topics ranged across genetics, arguably including the first confirmed Tourette Syndrome (TS) susceptibility gene NRXN1, neurocognition, and neurophysiology, including the possibility of a neurocognitive endophenotype for TS and the use of depth and cortical surface electrodes to investigate the neurophysiology of tics on the background of the evolving field of deep brain stimulation (DBS), to novel treatment approaches such as dental orthotics and an online behavioral intervention. The debates aired controversies in treatment; pharmacotherapy vs. behavioral treatment and the place of medical cannabinoids. These sessions demonstrate the vibrancy of a field that has considerably expanded in the last decade, the significant progress that has been made, and the direction that some of the most fruitful next phases of research will take.

Y.B. and O.B. are two brothers who were referred to the specialist Tourette syndrome clinic at the age of 9 and 18, respectively. Beyond apparent similarities, their clinical presentations revealed intriguing and challenging differences, which illustrate the intrinsic variety of the “compulsivity-impulsivity” spectrum characterizing the behavioral side of Tourette syndrome.

International audience; In patients with severe, treatment-refractory Gilles de la Tourette syndrome (GTS), deep brain stimulation (DBS) of various targets has been increasingly explored over the past 15 years. The multiplicity of surgical targets is intriguing and may be partly due to the complexity of GTS, specifically the various and frequent associated psychiatric comorbidities in this disorder. Thus, the target choice may not only be aimed at reducing tics but also comorbidities. While this approach is laudable, it also carries the risk to increase confounding factors in DBS trials and patient evaluation. Moreover, I question whether DBS should really be expected to alleviate multiple symptoms at a time. Rather, I argue that tic reduction should remain our primary objective in severe GTS patients and that this intervention may subsequently allow an improved psychotherapeutic and/or pharmacological treatment of comorbidities. Thus, I consider DBS in GTS not as a single solution for all our patients’ ailments but as a stepping stone to improved holistic care made possible by tic reduction.

The role of perinatal factors in the pathophysiology of TD/CTD has been repeatedly suggested but never systematically analyzed. The recently published article by Brander et al [1] proposes a relationship between the occurrence of TD/CTD and several adverse perinatal events. The study cohort consisted of all live singleton births over a 30 year period in a single country. Follow up was done over a 40 year period. It included a total of 3,026,861 individuals, 5,597 of which were diagnosed with TD/CTD during the study period. The main results showed that impaired fetal growth, preterm birth, breech presentation and cesarean section were associated with a higher incidence of TD/CTD. A dose–response relationship was also found, by which the higher the number of perinatal events, the higher the risk for TD/CTD. Maternal smoking during pregnancy was also suggested to be associated with the risk of TD/CTD in a dose-response manner; however this could not be verified after sibling comparison analysis. Fil: Bruno, Veronica Andrea. Fundación para la Lucha Contra las Enfermedades Neurológicas de la Infancia. Instituto de Investigaciones Neurológicas "Raúl Carrea"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Arena, Julieta Soledad. Fundación para la Lucha Contra las Enfermedades Neurológicas de la Infancia. Instituto de Investigaciones Neurológicas "Raúl Carrea"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina

International audience; A working group of the European Society for the Study of Tourette Syndrome (ESSTS) has developed the first European assessment guidelines of Tourette Syndrome (TS). The available literature including national guidelines was thoroughly screened and extensively discussed in the expert group of ESSTS members. Detailed clinical assessment guidelines of tic disorders and their comorbidities in both children and adults are presented. Screening methods that might be helpful and necessary for specialists' differential diagnosis process are suggested in order to further analyse cognitive abilities, emotional functions and motor skills. Besides clinical interviews and physical examination, additional specific tools (questionnaires, checklists and neuropsychological tests) are recommended.