Evidence from pre-clinical infrahuman investigations, open-label clinical trials, and a single controlled trial found acute nicotine treatment potentiated up to 4 weeks neuroleptic-induced reductions of dyskinetic symptoms characterizing Tourette’s syndrome (TS). Given the attentional disturbances associated with this syndrome, and the improvements in attentional processes reported with nicotine, this randomized, double-blind, placebo-controlled trial examined the acute (4 h) and sustained (2 weeks) effects of a single dose of transdermal nicotine on clinical (i.e., tics), attentional (continuous performance task, event-related potentials, patient and parental reports) and behavioral symptoms in 23 children and adolescents with TS receiving neuroleptic treatment. In the 14 evaluable patients with complete primary efficacy data, nicotine (compared to placebo) failed to alter symptoms at 4 h but counteracted ERP-P300 signs of diminished attention seen 2 weeks following placebo treatment. Secondary efficacy measures, including patient self-reports and parental ratings, found nicotine to reduce complex tics and improve behaviors related to inattention. Additional work with intermittent dosing schedules is required to characterize optimal clinical and cognitive effects with nicotine treatment.

The addition of a dose-escalated regimen of transdermal nicotine patches (TNP) improved tics of a non-smoker patient with Tourette's syndrome, whose tics did not respond to sulpiride. This improvement, as assessed by the Yale Global Tic Severity Scale, lasted for up to 8 weeks, but not 16 weeks. An explanation for the efficacy of TNP is presented.

Introduite en 1980 dans le DSM III, la maladie de Gilles de la Tourette figure depuis 2013 dans le DSM 5 parmi les troubles neurodéveloppementaux moteurs liés à des tics. Si la récente évolution nosologique du trouble intègre les dernières avancées dans la connaissance de la maladie, ses critères diagnostiques sont restés globalement inchangés. Or, les classifications diagnostiques actuelles ne rendent pas explicitement compte des nombreuses comorbidités psychiatriques de la maladie, pourtant fondamentales dans sa caractérisation. Ainsi, les données récentes de la littérature retrouvent dans près de 90 % des cas des comorbidités psychiatriques associées au Tourette . Les comorbidités psychiatriques les plus communément associées sont le trouble déficitaire de l’attention avec ou sans hyperactivité (TDA/H) dans 60 à 80 % des cas, les troubles obsessionnels compulsifs dans 11 à 80 % des cas , puis les troubles du contrôle des impulsions , les troubles anxiodépressifs et de la personnalité. Les enfants souffrant de Gilles de la Tourette présentent quant à eux fréquemment des troubles des conduites et des apprentissages. Depuis une dizaine d’années environ, la prise en compte de la complexité phénotypique du tableau clinique a vu émerger le concept de « spectre » psychopathologique du tableau de Gilles de la Tourette , englobant des phénomènes moteurs et des symptômes comportementaux. Cette présentation abordera la complexité clinique de la maladie à travers le concept de « spectre » dont l’implication dans la prise en charge clinique des patients est majeure.

La maladie de Gilles de la Tourette est caractérisée par l’association de tics moteurs et vocaux qui apparaissent habituellement dans l’enfance. Ces symptômes persistent à l’âge adulte chez environ un tiers d’entre eux . Le retentissement de la maladie sur le fonctionnement des patients, en particulier leur scolarité et leur insertion sociale, est dramatique . S’y ajoute une comorbidité psychiatrique variable, pouvant être sévère . La prise en charge thérapeutique est alors particulièrement lourde et doit être, dans tous les cas, multidisciplinaire. Or les psychiatres sont généralement peu sensibilisés au dépistage et à l’évaluation de cette pathologie pourtant grave. Par conséquent, son sous-diagnostic dans l’enfance n’est pas rare , en partie masqué par la comorbidité psychiatrique. Ce symposium propose de synthétiser les données les plus récentes de la littérature consacrées au syndrome de Gilles de la Tourette, permettant de fournir des repères clés directement transposables en pratique clinique. La première partie sera consacrée à la présentation des hypothèses neurodéveloppementales avancées pour rendre compte des aspects étiopathogéniques du trouble (Pr R. Delorme). Dans un second temps, seront définies les caractéristiques cliniques de la maladie, à la lumière des modifications apportées par le DSM5, ainsi que ses principales comorbidités psychiatriques (Dr F. Cyprien). La troisième intervention sera consacrée aux aspects thérapeutiques, qu’ils soient pharmacologiques, psychothérapiques et surtout chirurgicaux, grâce aux avancées apportées par la stimulation cérébrale profonde dans la prise en charge et la compréhension de la maladie (Pr L. Mallet). Nous espérons au terme de cette session parvenir à sensibiliser les praticiens au dépistage, l’évaluation et la prise en charge en routine d’une maladie habituellement cantonnée aux confins de la neurologie et de la psychiatrie.

Gilles de la Tourette syndrome is a chronic and complex tic disorder accompanied by specific behavioral problems in the majority of patients. With its multifaceted interplay between motion and emotion, this condition is a paradigmatic example of the science and art of clinical neuropsychiatry. This review article encompasses the clinical phenomenology of motor and vocal tics and associated sensory experiences (premonitory urges), as well as the behavioral spectrum of the most common comorbidities, including obsessive-compulsive disorder, attention-deficit and hyperactivity disorder, affective symptoms, and impulsivity. Knowledge of the contributions of both tics and behavioral problems to patients’ health-related quality of life across the lifespan should assist treating clinicians in formulating a targeted management plan. Although the exact pathophysiology of Gilles de la Tourette syndrome remains elusive, research into therapeutic interventions has expanded the range of available interventions across multiple domains. A thorough understanding of the neurology and psychiatry of this condition is of key importance to meet the needs of this patient population, from the formulation of an accurate diagnosis to the implementation of effective treatment strategies.

Body-focused repetitive behaviours (BFRBs) including trichotillomania, skin picking, and nail biting, are non-functional self-destructive habits, which have a severe negative impact on everyday functioning. Although BFRBs cause distress, they are maintained by both negative (relief) and positive (stimulation) reinforcement. The emotional regulation (ER) model proposes that people with BFRBs have a general deficit in ER and, as a consequence, engage in BFRBs to alleviate affect and reinforce the behaviour. The current study was designed to explore differences in ER between people with BFRBs and controls to identify specific emotions triggering BFRBs. Forty-eight participants (24 BFRB, 24 controls) completed questionnaires measuring Difficulties in Emotional Regulation (DERS), a Triggers Scale and an Affective Regulation Scale (ARS). Significant differences in people with BFRBs and controls were reported principally on the DERS subscales of lack of emotional clarity, difficulties in impulse control, and access to ER strategies. On the ARS, the BFRB group reported overall difficulty ‘snapping out’ of emotions. The majority of BFRBs were reported to be triggered by anxiety (78%), tension (70%), or boredom (52%). The clinical implication is that ER could be beneficially targeted in therapy for BFRBs.

Tic disorders are moderately heritable common psychiatric disorders that can be highly troubling, both in childhood and in adulthood. In this study, we report results obtained in the first epigenome-wide association study (EWAS) of tic disorders. The subjects are participants in surveys at the Netherlands Twin Register (NTR) and the NTR biobank project. Tic disorders were measured with a self-report version of the Yale Global Tic Severity Scale Abbreviated version (YGTSS-ABBR), included in the 8th wave NTR data collection (2008). DNA methylation data consisted of 411,169 autosomal methylation sites assessed by the Illumina Infinium HumanMethylation450 BeadChip Kit (HM450k array). Phenotype and DNA methylation data were available in 1,678 subjects (mean age = 41.5). No probes reached genome-wide significance (p < 1.2 × 10−7). The strongest associated probe was cg15583738, located in an intergenic region on chromosome 8 (p = 1.98 × 10−6). Several of the top ranking probes (p < 1 × 10−4) were in or nearby genes previously associated with neurological disorders (e.g., GABBRI, BLM, and ADAM10), warranting their further investigation in relation to tic disorders. The top significantly enriched gene ontology (GO) terms among higher ranking methylation sites included anatomical structure morphogenesis (GO:0009653, p = 4.6 × 10−15) developmental process (GO:0032502, p = 2.96 × 10−12), and cellular developmental process (GO:0048869, p = 1.96 × 10−12). Overall, these results provide a first insight into the epigenetic mechanisms of tic disorders. This first study assesses the role of DNA methylation in tic disorders, and it lays the foundations for future work aiming to unravel the biological mechanisms underlying the architecture of this disorder.

Tics are involuntary movements or sounds. Tourette syndrome is one of a family of tic disorders that affect around 1% of the population but which remains underrecognised in the community. In paediatric special education learning disability classes, the prevalence of individuals with tic disorders is around 20–45% — higher still in special education emotional/behavioural classes. Given the high rates of individuals with tic disorders in special education settings, as well as the unique challenges of working in an educational setting with a person with a tic disorder, it is incumbent upon professionals working in these settings to be cognisant of the possibility of tic disorders in this population. This review seeks to provide an overview of tic disorders and their association with learning and mental health difficulties. The review focuses on an exploration of factors underpinning the association between tic disorders and learning disabilities, including neurocognitive corollaries of tic disorders and the influence of common comorbidities, such as ADHD, as well as upon strategies to support individuals with tic disorders in the classroom.

Los datos de investigaciones precl ínicas en organismos no humanos, ensayos clínicos al descubierto y un ensayo controlado individual encontraron que el tratamiento de nicotina agudo potenciaba hasta 4 semanas las reducciones inducidas por neurolépticos de los síntomas discinéticos que caracterizan al síndrome de la Tourette (ST). Dadas las perturbaciones de la atención asociadas con este síndrome, y las mejorías en los procesos atencionales comunicadas con la nicotina, este ensayo distribuido al azar doble ciego controlado con placebo exa- minó los efectos agudos (4 h) y sostenidos (2 semanas) de una dosis individual de nicotina transdérmica sobre los síntomas clínicos (es decir, los tics), atencionales (una tarea de ejecución continua, potenciales evocados cognitivos, los informes de los pacientes y los padres) y conductuales en 23 niños y adolescentes con ST que recibían tratamiento neuroléptico. En los 14 pacientes evaluables con datos de efi- cacia primarios completos, la nicotina (comparado con el placebo) no alteró los síntomas a las 4 h pero contrarrestó los signos de aten ción disminuida de la onda P300 de los potenciales evocados cognitivos (PEC) vistos 2 semanas después del tratamiento con placebo. Las medidas de eficacia secundarias, incluidos los autoinformes de los pacientes y las evaluaciones de los padres, encontraron que la nicoti na reducía los tics complejos y mejoraba las conductas relacionadas con el déficit de atención. Se requiere más trabajo con programas de dosis intermitentes para caracterizar los efectos clínicos y cognitivos óptimos con el tratamiento de nicotina.

This study's aim was to estimate the prevalence and describe the clinical characteristics of Tourette syndrome (TS) in 13–14-year-old schoolchildren attending mainstream secondary schools. A three-stage ascertainment procedure was used to identify those who had TS. First, all 1012 Year 9 pupils were screened for tics using validated self-report questionnaires, which were completed by parents, teachers, and pupils. Data were available from at least one informant for 918 (90·7%) subjects. Tics were identified in 189 (18·7%) pupils. Second, families were contacted and a semistructured interview was carried out to determine whether they had TS. Finally, to ensure that the diagnosis of TS was correct, all those assessed as having TS were systematically assessed by an expert clinician in the field of TS.

Seven young people were identified as fulfilling the criteria for TS, giving a minimum prevalence rate amongst 13–14-year-olds of 0·76% (95% CI 0·31 to 1·57) and a more realistic estimate of 1·85% (95% CI 1·00 to 2·95). Behavioural problems, in particular hyperkinetic disorder, were frequently associated with the TS group. These findings lend further support to the contention that the prevalence of TS in the community has hitherto been underestimated, though the symptoms may be generally milder than cases of TS presenting to clinics. This study supports the need for vigilance for TS in school-age children in primary care and in educational settings, so that children with this potentially serious disorder can be identified and assessed and effective management packages can be formulated to address their needs, when necessary.