Yale Global Tic Severity Scale Scores Research Articles

Association between body mass index and tic disorders in school-age children

ObjectiveTo explore the relationship between body mass index (BMI ) and the severity of tic disorders (TDs) in children 6–14 years old.MethodsA total of 86 children diagnosed with TDs in a hospital between Jan. 2023 and Sept. 2023 were collected by convenient sampling method, and the general data and TD-specific data were collected and analyzed.ResultsUnivariate analysis showed that patients with different Yale Global Tic Severity Scale (YGTSS) grades had statistically significant differences in age, BMI, residence, snacking pattern, weekly physical exercise frequency, weekly physical exercise time, and proportion of cesarean birth. Multiple linear regression analysis showed that the YGTSS score grades were related to BMI, snacking pattern, and cesarean birth of the patients. Correlation analysis revealed a positive correlation between BMI grades and the YGTSS score grades, with a higher BMI indicating more severe TDs. Predictive value evaluation showed that BMI, snacking pattern, and cesarean birth had predictive values for TD severity, and the highest value was found in the combined prediction.ConclusionBMI, snacking pattern, and cesarean birth are of predictive values for the severity of TDs. In addition, BMI is positively correlated with the severity of TDs, and a higher BMI suggests more severe TDs.

Cytokine levels reflect tic symptoms more prominently during mild phases

Tic disorder is a neuropsychiatric condition that affects 3% of all children and can have a significant impact on their quality of life. Cytokines, interferons, interleukins, lymphokines, and tumor necrosis factors are involved in the neuroinflammatory circuitry of tic disorders. This study aimed to identify the cytokines involved in the pathogenesis of tic disorders. We enrolled 44 patients with tic disorder and 38 healthy controls. Patients were free of psychotropic medications for at least 3 weeks. Whole blood samples were analyzed using a Luminex® human cytokine multiplex assay kit. Patients were divided into groups with “mild tics” and “above moderate tics” based on Yale Global Tic Severity Scale (YGTSS) scores for comparison. The final analysis included 35 patients (28 male and 7 female) and 31 controls (20 male and 11 female). In the mild tic group, interleukin (IL)-12 p70 negatively correlated with motor tic scores. Granulocyte-macrophage colony-stimulating factor, IL-4, IL-8, and tumor necrosis factor (TNF)-α were positively correlated to phonic tic scores. IL-12 p40 and TNF-α were positively correlated to total tic scores. IL-12 p70 and IL-17a negatively correlated to impairment scores and total YGTSS scores. Tic disorder patients and healthy controls exhibit different cytokine profiles. Only patients with mild symptoms exhibit significant correlations, suggesting that the correlations between cytokine levels and tic symptoms are more relevant during the mild or remission phases. Our results present the importance of IL-1β and TNF-α, among others, but the identification of key cytokines are still necessary.

Clinical characteristics of comorbid tic disorders in autism spectrum disorder: exploratory analysis

BackgroundThe frequency, clinical characteristics, and associated symptoms of comorbid tic disorders in individuals with autism spectrum disorder (ASD) remain unclear.MethodsWe included subsets of individuals from a larger genetic study who were diagnosed with ASD (n = 679; age: 4–18 years) and completed the Yale Global Tic Severity Scale (YGTSS) questionnaire. Based on the YGTSS score, the individuals were divided into two groups: ASD only (n = 554) and ASD with tics (n = 125). Individuals were assessed using the verbal and non-verbal intelligence quotient (IQ), Vineland Adaptive Behavior Scale (VABS-2), Social Responsiveness Scale-2 (SRS-2), Child Behavior Checklists (CBCL), and Yale-Brown Obsessive–Compulsive Scale (YBOCS), followed by between-group comparisons. All statistical analyses were performed using the Statistical Package for the Social Sciences (SPSS) version 26.ResultsTic symptoms were observed in 125 (18.4%) participants; among them, most participants presented both motor and vocal tics (n = 40, 40.0%). The ASD with tics group had a significantly higher average age and full-scale IQ score than the ASD only group. After adjusting for age, the ASD with tics group had significantly higher scores in the SRS-2, CBCL, and YBOCS subdomains than the ASD only group. Furthermore, all variables except the non-verbal IQ and VABS-2 scores were positively correlated with the YGTSS total score. Finally, the proportion of tic symptoms was significantly higher among individuals with a higher IQ score (≥ 70).ConclusionsThe IQ score was positively correlated with the proportion of tic symptoms among individuals with ASD. Moreover, the severity of the core and comorbid symptoms of ASD was associated with the occurrence and severity of tic disorders. Our findings suggest the need for appropriate clinical interventions for individuals with ASD.Trial registration This study retrospectively registered participants

Circulating retinol and 25(OH)D contents and their association with symptoms in children with chronic tic disorders

The present study measured serum levels of vitamin A (VA) and vitamin D (VD) in children with chronic tic disorders (CTD) and investigated their potential association with CTD and comorbidity of attention deficit hyperactivity disorder (ADHD) and the association of their co-insufficiencies or deficiencies with CTD symptoms. A total of 176 children (131 boys and 45 girls, median age of 9 years) with CTD were recruited as the CTD group. During the same period, 154 healthy children were selected as the healthy control (HC) cohort. Circulating retinol and 25-hydroxyvitamin D (25[OH]D) levels were measured for all participants using high-performance liquid chromatography (HPLC) and tandem mass spectrometry. The Yale Global Tic Severity Scale (YGTSS) was employed for the assessment of tic status and CTD impairment. The Swanson, Nolan, and Pelham Rating Scale (SNAP-IV) and the Children’s Yale-Brown Obsessive–Compulsive Scale (CY-BOCS) were used to evaluate comorbidity symptoms. CTD pediatric participants exhibited markedly diminished circulating retinol and 25(OH)D levels compared to HCs. Moreover, VA and VD deficiencies and their co-insufficiencies/deficiencies were more prevalent in CTD participants than HCs. Circulating 25(OH)D levels were inversely proportional to the YGTSS motor tic scores. YGTSS scores in CTD children with only VA or VD insufficiency or deficiency or with VA and VD co-insufficiency/deficiency did not differ from those in CTD children with normal VA and VD. CTD children with comorbid ADHD displayed reduced circulating retinol and 25(OH)D concentrations and elevated prevalence of VD deficiency compared to CTD participants without comorbid ADHD. Lower serum retinol content was intricately linked to the presence of elevated CTD and comorbid ADHD. VA and VD deficiencies and their co-insufficiencies/deficiencies were markedly enhanced in CTD pediatric participants compared to HCs. Lower VA concentration was linked to the presence of enhanced CTD and comorbid ADHD. Therefore, children with CTD, especially with comorbid ADHD, may be at a higher risk of VA or VD deficiency, which may prompt the clinicians to consider whether blood tests for VA and VD in CTD children would be helpful for clinical care.

Cross-sectional investigation of quality of life determinants among children with tic disorders: The roles of family environmental and clinical factors

ObjectiveTo examine the association between family environmental and clinical factors with the whole range of quality of life (QOL) in children with tic disorders (TD). MethodsA hospital-based cross-sectional study was conducted among children with TD. All participants were given a family environmental survey and scale evaluations with Yale Global Tic Severity Scale (YGTSS), Achenbach Child Behavior Checklist (CBCL) and PedsQL-Generic Core Scale of the Chinese Version (PedsQL). Variable selection and data analysis was done by the least absolute shrinkage and selection operator (LASSO) method and multivariate logistic regression analysis. ResultsA total of 363 TD cases were included in the analysis. YGTSS scores, total CBCL score had significant negative correlations with PedsQL scores (P < 0.05). Of the total 15 factors, 8, 6, 11, 7, 5, 10 potential predictors with nonzero coefficients were identified by LASSO regression models of physical functioning, emotional functioning, social functioning, school functioning, social-psychological domain and PedsQL total scale respectively. Results of multivariate logistic regression analysis showed older age (physical functioning, ORs: 1.77, 3.67; total scale: ORs: 1.73, 2.28), no presence of chronic conditions (school functioning, OR: 1.61), moderate/severe tic severity (physical functioning, OR: 0.57; social functioning, OR: 0.44; social-psychological domain, OR: 0.57), co-morbid behavioral problems (physical functioning, OR: 0.52; emotional functioning, OR: 0.31; social functioning, OR: 0.30; school functioning, OR: 0.35; social-psychological domain, OR: 0.34; total scale, OR: 0.30), no fully parental involvement in care (physical functioning, OR: 0.62), higher paternal (physical functioning, ORs: 2.89, 2.07) and maternal education level (social functioning, ORs: 1.74, 2.03), democratic parenting pattern (emotional functioning, OR: 1.89; social functioning, OR: 2.17; social-psychological domain, OR: 2.33; total scale, OR: 2.11) and inharmony family relationship (emotional functioning, OR: 0.47; total scale, OR: 0.50) were the most important determinants to QOL of TD. ConclusionsThis study identifies several QOL determinants among children with TD. Clinicians should be encouraged to screen for family environmental and clinical factors in TD patients, and take tailored interventions to help TD children improve their QOL.

Long-term efficacy, prognostic factors, and safety of deep brain stimulation in patients with refractory Tourette syndrome: A single center, single target, retrospective study

BackgroundTo evaluate the long-term efficacy, prognostic factors, and safety of posteroventral globus pallidus internus deep brain stimulation (DBS) in patients with refractory Tourette syndrome (RTS). MethodsThis retrospective study recruited 61 patients with RTS who underwent posteroventral globus pallidus internus (GPi) DBS from January 2010 to December 2020 at the Chinese People's Liberation Army General Hospital. The Yale Global Tic Severity Scale (YGTSS), Yale-Brown Obsessive-Compulsive Scale (YBOCS), Beck Depression Inventory (BDI), Gilles de la Tourette Syndrome Quality-of-Life Scale (GTS-QOL) were used to evaluate the preoperative and postoperative clinical condition in all patients. Prognostic factors and adverse events following surgery were analyzed. ResultsPatient follow up was conducted for an average of 73.33 ± 28.44 months. The final postoperative YGTSS (32.39 ± 22.34 vs 76.61 ± 17.07), YBOCS (11.26 ± 5.57 vs 18.31 ± 8.55), BDI (14.36 ± 8.16 vs 24.79 ± 11.03) and GTS-QOL (39.69 ± 18.29 vs 78.08 ± 14.52) scores at the end of the follow-up period were significantly lower than those before the surgery (p < 0.05). While age and the duration of follow-up were closely related to prognosis, the disease duration and gender were not. No serious adverse events were observed and only one patient exhibited symptomatic deterioration. ConclusionsPosteroventral-GPI DBS provides long-term effectiveness, acceptable safety and can improve the quality of life in RTS patients. Moreover, DBS is more successful among younger patients and with longer treatment duration.

Efficacy of Behavioural Intervention, Antipsychotics, and Alpha Agonists in the Treatment of Tics Disorder in Tourette's Syndrome.

Tourette's Syndrome (TS), in which patients have sudden, repeated, involuntary twitches and movements, called tics, is a condition of the nervous system. They can be motor, vocal, simple, or complex tics. It can be physically, emotionally, mentally, and socially distressing and challenging for those suffering from it. Usually, it is accompanied by various comorbidities like attention-deficit hyperactivity disorder, obsessive-compulsive disorder, and sleep disorders. A variety of environmental and genetic factors are also associated with tics in TS like the first-degree relatives are more at risk of developing TS.TS is heterogeneous with complicated patterns of inheritance and phenotypic manifestations. There is a strong association between common single nucleotide polymorphisms (SNP, s) in the SLITRK1 gene and TS. Environmental factors like prenatal, postnatal, and perinatal factors directly influence tics in TS. These factors are low birth weight, intrauterine growth retardation (IGR), and various infections. The treatment of TS can be broadly classified into non-pharmacological and pharmacological treatment. Non-pharmacological therapy includes various behavioural interventions that can be helpful in situations when patients are tolerant of medical treatments. Psychoeducation and counselling play an essential role in the treatment of TS. It is vital to give a proper understanding to the patient and their family about the disease. Cognitive-behavioral intervention for tics, cognitive-behavioral therapy, exposure and response prevention, relaxation techniques, deep brain stimulation, and habit reversal training are the commonly used therapies for tics. These therapies have shown good efficacy because it improves the Yale Global Tic Severity Scale score (YGTSS) significantly. And they show effectiveness in patients who are irresponsive to medical treatment. The main lines of medical treatment are antipsychotics and alpha agonists. Typical (haloperidol, pimozide) or atypical (aripiprazole, risperidone, olanzapine) Antipsychotics differ in their side effects, efficacy, and tolerance in different age groups of children. Haloperidol was the first drug approved by the Food and Drug Administration for tics, but later on, new developments and improvements were made as far as drug therapy is concerned. The alpha-agonist most commonly used is clonidine which is also available in the form of adhesive patches. Another alpha agonist which is also widely used is guanfacine. Botulinum toxin and baclofen have also shown efficacy in dealing with tics in TS with other comorbidities. We will review in this article all the main lines of treatment and their effectiveness in TS.

Effectiveness of Low-Frequency Pallidal Deep Brain Stimulation at 65 Hz in Tourette Syndrome

ObjectivesPallidal deep brain stimulation (DBS) for refractory Tourette syndrome (TS) is often applied using a high frequency. The effectiveness of low-frequency long-term stimulation is unknown. We aimed to evaluate the clinical efficacy of low-frequency DBS applied to the globus pallidus pars internus (GPi) at 65 Hz for the treatment of TS, with long-term follow-up, to provide data for the optimization of stimulation parameters. Materials and MethodsA total of six patients with refractory TS were implanted with electrodes in the GPi and were assigned to receive low-frequency (65 Hz) DBS programming. Assessments were performed pre-DBS and at 3, 12, and a median of 34 (range 26–48) months post-DBS. The primary outcome was tic severity, as assessed by the Yale Global Tic Severity Scale (YGTSS), and the secondary outcomes were comorbid behavioral disorders, mood, functioning, and quality of life. ResultsWe noted significant differences in the YGTSS scores between the baseline and the post-DBS follow-ups (p = 0.01). At the final follow-up, four of six (66.6%) patients had a greater than 50% reduction in the YGTSS score, whereas the remaining two patients showed a mild worsening of tic severity. The secondary outcome measures also showed remarkable improvements in associated behavioral disorders, mood, functioning, and quality of life. Stimulation-induced adverse effects were not reported, although a device-related complication (an uncomfortable feeling in the neck) occurred in one patient. ConclusionsThe results of this study indicated that low-frequency DBS represents an effective and practical treatment for refractory TS with comparable efficacy to high-frequency DBS.

Long-term Outcome of Deep Brain Stimulation in Intralaminar Thalamus for Refractory Tourette Syndrome: A Case Report

BACKGROUND: Tourette syndrome (TS) is a neurobehavioral disease that has onset at an early age around 5–7 years old. This disease affects 0.3–0.8% of young age population. With criteria diagnosis at least one vocal and two motor tics beginning before 18 years old. The symptoms of tics remain unusual from a social point of view, thus making it difficult for patients to evolve their professional life and education level. We present a case report of a young male patient with refractory TS with a Yale Global Tic Severity Scale (YGTSS) score of 88 out of 100; he has experienced remarkable improvement after undergoing a deep brain stimulation (DBS) procedure. CASE REPORT: A 23-year-old male came to our neurosurgery outpatient clinic who had had a history of TS since 8 years ago. He had facial and jumping-type tics. Lately, his jumping movements cannot be controlled, with increasing frequency and intensity. The maximum tic-free interval is only 30 min. On 1st-time evaluation in the neurosurgery outpatient clinic, he scored 88 out 0f 100 on the YGTSS even after medication treatment, repetitive transcranial magnetic stimulation, and behavioral therapies. The DBS procedure was carried out in November 2018 with targets on the bilateral intralaminar nuclei of thalamus (centromedian nucleus). The result is convincing, with decrease of YGTSS score until 14 after 3 years evaluation postsurgery. CONCLUSION: After performing DBS targeting the bilateral thalamus (central thalamus nucleus), the severity of tic was dramatically reduced. The result is pleasing to the patient as they can resume activity in public and return to college. Case reports regarding the treatment of refractory TS with DBS are still rare in Indonesia. To the best of our knowledge, this is the first such report with long-term follow-up in South East Asia.

Defining tic severity and tic impairment in Tourette Disorder

ObjectiveTreatment guidelines for Tourette's Disorder (TD) are based on patients' degree of tic severity and impairment. However, clear benchmarks for determining tic severity and impairment have not been established. This study examined benchmarks of tic severity and tic impairment using the Yale Global Tic Severity Scale (YGTSS) and the Clinical Global Impression of Severity (CGI-S). MethodIndividuals with TD or another Tic Disorder (N = 519) recruited across nine sites were administered a diagnostic interview, the YGTSS, and the CGI-S. Correlations and trend analyses contrasted YGTSS scores across CGI-S ratings. A logistic regression model examined predictive benchmarks for tic severity, tic impairment, and global severity. Model classifications were compared against CGI-S ratings, and agreement was examined using kappa. ResultsSpearman correlations between the CGI-S and YGTSS scores ranged from 0.54 to 0.63 (p < 0.001). Greater CGI-S ratings were associated with a linear stepwise increase in YGTSS Total Tic scores, Impairment scores, and Global Severity scores. Despite moderate-to-strong associations (ρ = 0.45–0.56, p < 0.001) between the CGI-S and predictive logistical regression models, only fair agreement was achieved when applying classification benchmarks (κ = 0.21–0.32, p < 0.001). ConclusionsCGI-S ratings are useful to characterize benchmarks for tic severity, tic impairment, and global severity on the YGTSS. Logistic regression model benchmarks had only fair agreement with the CGI-S and underscore the heterogeneity of TD symptoms. Collectively, findings offer guidance on the delineation of tic severity categorizations to apply evidence-based treatment recommendations.

Is the Yale Global Tic Severity Scale a valid tool for parent-reported assessment in the paediatric population? A prospective observational study in Taiwan

ObjectiveThe Yale Global Tic Severity Scale (YGTSS) is the most commonly used clinician-rated evaluation tool for Tourette syndrome (TS), with established reliability and validity. This study aims to determine whether...

Development of the Korean Form of the Premonitory Urge for Tics Scale: A Reliability and Validity Study.

ObjectivesThis study aimed to evaluate the reliability and validity of the Korean Form of the Premonitory Urge for Tics Scale (K-PUTS).MethodsThirty-eight patients with Tourette’s disorder who visited Jeonbuk National University Hospital were assessed with the K-PUTS. Together with the PUTS, the Yale Global Tic Severity Scale (YGTSS), the Children’s Yale-Brown Obsessive Compulsive Scale (CY-BOCS), the attention-deficit/hyperactivity disorder (ADHD) rating scale (ARS), and the Adult ADHD Self-Report Scale (ASRS) were implemented to evaluate concurrent and discriminant validity.ResultsThe internal consistency of items on the PUTS was high, with a Cronbach’s α of 0.79. The test-retest reliability of the PUTS, which was administered at 2 weeks to 2 months intervals, showed high reliability with a Pearson correlation coefficient of 0.60. There was a significant positive correlation between the overall PUTS score and the YGTSS score, showing concurrent validity. There was no correlation between the PUTS, CY-BOCS, and ASRS scores, demonstrating the discriminant validity of the PUTS. Factor analysis for construct validity revealed three factors: “presumed functional relationship between the tic and the urge to tic,” “the quality of the premonitory urge,” and “just right phenomena.”ConclusionThe results of this study indicate that the K-PUTS is a reliable and valid scale for rating premonitory urge of tics.

Correlation between premonitory urges and tic symptoms in a Chinese population with tic disorders.

ABSTRACTImportanceTics usually start around 4–6 years old and affect about 1% of school‐age children. Premonitory urges (PUs) are sensory phenomena that precede tics and are often described as unpleasant feelings. Recent evidence supports a relationship between PUs and tic severity, but reports are conflicting. In addition, there is no report of PUs in the Chinese population.ObjectiveTo investigate the correlation between PUs and tic symptoms in the Chinese population with tic disorders.MethodsWe recruited 252 Chinese individuals with chronic tic disorders (age 5–16 years). The Yale Global Tic Severity Scale (YGTSS) was used to assess tic symptoms, and the Premonitory Urge for Tics Scale (PUTS) was used to assess PUs. We calculated Spearman correlations between PUTS and YGTSS scores, and constructed a linear regression model to predict the tic symptom severity by PUs.ResultsThere was a significant positive correlation between PU severity (PUTS scores) and motor tic severity, total tic severity, tic‐caused impairment (YGTSS scores) (P < 0.05). PU severity was a significant positive predictor of tic symptom severity (standardized beta coefficient = 0.174, t = 2.786, P = 0.006).InterpretationWe provide evidence for a correlation between PUs and tic symptoms. PU severity predicts tic symptom severity. Further research on PUs is needed to clarify the shared brain mechanism with tics, and their role in tic expression. A suitable tool to assess PUs in younger children is also needed.

Effectiveness and Safety of a Clonidine Adhesive Patch for Children With Tic Disorders: Study in a Real-World Practice.

Background: Real-world evidence includes data from retrospective/prospective observational studies and observational registries, and provides insights beyond those addressed by randomized controlled trials. This study aimed to evaluate the effectiveness and safety of a clonidine adhesive patch (CAP) for children with tic disorder (TD) in a real-world setting (RWS).Methods: This was an open-label, non-interventional, post-marketing, observational study in a RWS. Children diagnosed with TDs were enrolled from a pediatric neurology clinic in China, and the change in tic symptom severity following 6 weeks pharmacologic treatments was investigated using Yale Global Tic Severity Scale (YGTSS) during visits at weeks 0, 4, 8, and 12.Results: Of 150 patients, 76% (114/150) were male (age range, 3.03–14.24 years; mean, 8.11 ± 2.48 years). Patients were divided into three groups: tiapride (n = 94), CAP (n = 14), and CAP + tiapride (n = 42). The mean YGTSS improved 11.02, 15.14, 11.13 points from baseline to posttreatment for tiapride, CAP, and CAP + tiapride, respectively, but variance analysis showed there was no significant difference in YGTSS related to different pharmacologic intervention during subsequent visits at weeks 4, 8, and 12. Repeated measure analysis showed there was no significant difference between different medication types for reducing the YGTSS score (F = 0.553, P = 0.576). No serious adverse events (AEs) occurred, and there was no significant difference in the prevalence of AEs between the three groups.Conclusion: The CAP is effective and safe for TD management in a RWS, because of the limitation of sample size and the period of follow up, observational studies with longer-term outcomes, and larger sample size are needed.

A double-blind, randomized, sham-controlled study of cranial electrotherapy stimulation as an add-on treatment for tic disorders in children and adolescents.

The aim of this study was to determine the efficacy and safety of cranial electrotherapy stimulation (CES) as an add-on treatment for TD. A randomized, double-blind, sham-controlled trial was conducted at an outpatient, single-center academic setting. A total of 62 patients aged 6-17 years with TD and lack of clinical response to 4 weeks' pharmacotherapy were enrolled. Patients were divided randomly into 2 groups and given 4 weeks' treatment, including 30 min sessions of active CES (500 μA-2 mA) or sham CES (lower than 100 μA) per day for 40 d on weekdays. Change in Yale Global Tic Severity Scale (YGTSS), Clinical Global Impression-severity of illness-severity (CGI-S) and Hamilton Anxiety Scale-14 items (HAMA-14) were performed at baseline, week 2, week 4. Adverse events (AEs) were also evaluated. 53 patients (34 males and 9 females) completed the trial, including 29 in the active CES group and 24 in the sham CES group. Both groups showed clinical improvement in tic severities compared to baseline respectively at week 4. Participants receiving active CES showed a reduction of 31.66 % in YGTSS score, compared with 23.96 % in participants in sham CES group, resulting in no significant difference between the two groups (t = 1.54, p = 0.13). Four-week's treatment of CES for children and adolescents with TD is effective and safe, but the improvement for tic severity may be related to placebo effect.

Effects of stereotactic radiofrequency thermocoagulation in the globus pallidus internus on refractory tic disorders

Objective To investigate the effect of stereotactic radiofrequency thermocoagulation in the globus pallidus internus on refractory tic disorders. Materials and methods Forty patients with refractory tic disorders were enrolled between January 2015 and July 2017 to experience stereotactic radiofrequency thermocoagulation in the globus pallidus internus. All clinical data, Yale Global Tic Severity Scale (YGTSS) scores, serum dopamine (SDA), and 5-hydroxytryptamine (5-HT) were analyzed. Results Radiofrequency thermocoagulation was successfully performed in all patients. Periprocedural complications occurred in two patients (5.0%), one with fever (2.5%) and one with a urination disorder (2.5%); both returned to normal after treatment. After 12 months of follow-ups, excellent improvement was exhibited in 18 patients (45.0%), marked improvement in 10 (25.0%), good improvement in 9 (22.5%), and invalid in 3 (7.5%), with a total efficacy rate of 92.5% (37/40). Twenty-eight patients (70%) showed excellent or marked improvement without additional treatment after surgery. YGTSS scores were significantly (p < 0.05) decreased after compared with before thermocoagulation. SDA was significantly (p < 0.05) decreased 6 months (80.78 ± 18.82 ng/ml) and 12 months (75.65 ± 15.23 ng/ml) after compared with before (125.63 ± 35.26 ng/ml) surgery, whereas 5-HT was significantly (p < 0.05) increased 6 months (58.93 ± 16.88 ng/ml) and 12 months (62.63 ± 15.21 ng/ml) after compared with before (35.62 ± 3.41 ng/ml) surgery. Conclusion Stereotactic radiofrequency thermocoagulation can be safely applied in the globus pallidus internus to treat refractory tic disorders, resulting in significant tic symptom relief and a decrease in SDA but increase in 5-HT.

A Whole-Exome Sequencing Study of Tourette Disorder in a Chinese Population.

To investigate the contribution of de novo variants to Tourette disorder (TD) probands in China. Whole-exome sequencing (WES) conducted on 15 child-parent trios (45 samples) detected 25 coding de novo variants, including 2 de novo Likely Gene Disrupting (LGD) variants and 6 Missense3 variants. The de novo LGD variants were consistently associated with TD risk (Fisher's exact test OR 2.69; p = 0.1952), although statistical significance was not achieved due to the small sample size. We then assessed the relationship between the genetic events and phenotypic data by comparing Yale Global Tic Severity Scale (YGTSS) scores. The TD probands with damaging variants (defined as LGD variants and Mis3 variants) had significantly higher YGTSS scores, suggesting more severe tic symptoms (p = 0.019). We also observed a hit for a damaging compound heterozygous (CH) mutation in CELSR3, a high-confidence TD risk gene, in one of the TD probands. To our knowledge, this is the first study to investigate de novo variants in TD in a Chinese population. Our results showed that de novo LGD variants contributed to TD risk in our cohort and that TD probands with de novo damaging variants have more severe symptoms. Furthermore, our observation of damaging CH mutations in CELSR3 in an individual affected with TD further strengthened the confidence in a role for this gene in TD etiology.

Exploring circannual rhythms and chronotype effect in patients with Obsessive-Compulsive Tic Disorder (OCTD): A pilot study

BackgroundThe aim of this study was to test, through a chronobiologic approach, the existence of a significant circannual rhythm of tics and obsessive-compulsive symptoms in patients with Obsessive-Compulsive Tic Disorder (OCTD). The chronotype effect on tics and OC symptoms during seasons was also studied. MethodsPatients with a diagnosis of OCTD (N = 37; mean age = 18.78 ± 8.61) underwent four clinical evaluations: Winter (WIN), Spring (SPR), Summer (SUM) and Autumn (AUT). Tics were evaluated through Yale Global Tic Severity Scale (YGTSS) and OC symptoms through Yale-Brown Obsessive Compulsive Scale (Y-BOCS). Patients’ chronotype was assessed by the Horne-Ostberg morningness-eveningness questionnaire (MEQ), which categorizes subjects according to the individuals'chronotype, being morning-type, evening-type, and neither-type. ResultsA statistically significant circannual rhythm was observed for OC symptoms (p = 0.007), with the acrophase occurring between AUT and WIN. Y-BOCS differed along the year (p = 0.0003 and η2p = 0.40) with lower results in SUM compared to WIN (p < 0.05) and AUT (p < 0.01). Tics displayed no circannual rhythm and YGTSS scores were comparable among seasons. Patients were classified as 15 morning-types (40.5%) 15 neither-types (40.5%) and 7 evening-types (19.0%). YGTSS data were similar for all chronotypes while Y-BOCS results were greater during SUM in evening-types than morning-type patients (p < 0.05; 15.7 ± 5.2 vs 3.4 ± 6.0). LimitationsIt is essential to investigate the existence of tics and OC symptoms circannual rhythms over the course of more than one year with a larger sample. ConclusionsOC symptoms displayed a significant circannual rhythm and were influenced by patients’ chronotype. On the contrary, tics resulted similar among seasons and chronotypes.

Exploring the clinical outcomes after deep brain stimulation in Tourette syndrome

IntroductionDeep brain stimulation (DBS) of the thalamic centromedian-parafascicular (CM-Pf) region is the most common target to treat refractory Tourette syndrome (TS), but the improvement among the patients is quite variable. This study describes the outcomes of stimulation in TS patients and attempts to determine whether the volume of tissue activated (VTA) inside the thalamus or the structural connectivity between the area stimulated and different regions of the brain is associated with tic improvement. MethodsThe DBS patient response was measured as the percentage change in the Yale Global Tic Severity Scale (YGTSS) before and 12 months after surgery. The sum of the two overlapping VTA/CM-Pf volumes from both hemispheres was correlated with the percent change in YGTSS scores to assess whether the area stimulated inside the CM-Pf affects the clinical outcome. Structural connectivity estimates between the VTA (of each patient) and different regions of the brain were computed using a normative connectome that was taken from healthy subjects. ResultsFive male patients aged 26.8 ± 9.3 years were included. No relationships were found between the areas stimulated and the changes in patient tics (p = .374). However, the right frontal middle gyrus (R = 0.564, p = .03), the left frontal superior sulci region (R = 0.900, p = .030) and the left cingulate sulci region (R = 0.821, p = .045) structurally correlated with tic improvement. ConclusionThese data suggests that the volume of thalamic area that is stimulated does not explain the variance in outcomes in TS, however, the pattern of connectivity between the region stimulated and specific brain cortical areas is linked to patient outcome.

Modified cervical sympathectomy for treatment of tic disorders with paroxysmal spasm as the main manifestation

Objective To evaluate the clinical effects of modified cervical sympathectomy for the treatment of tic disorders (TD) with paroxysmal spasm as the main manifestation and to analyze the feasibility of this method. Methods A total of 20 patients with TD, admitted to Department of Neurosurgery, China-Japan Friendship Hospital from January 2014 to January 2017, were enrolled into this study. All patients received cervical sympathectomy. The severities of TD symptoms were evaluated respectively by Yale Global Tic Severity Scale (YGTSS) in all patients before operation at 1 month and 12 months post operation. Results All patients were followed up for 14-51 months with an average of 25.10±10.25 months. Twenty patients presented 1-month and 12-month postoperative motor tic severity scores of 9.20±3.64 points and 9.25±3.67 points respectively. The 1-month and 12-month postoperative total YGTSS scores were 22.80±15.58 points and 21.65±16.17 points respectively. Compared with preoperative motor tic severity score (19.00±1.17 points) and total YGTSS score (52.90±4.96 points), the 1-month and 12-month postoperative scores showed significant difference (F=68.13, 35.62, respectively, P<0.001). No complications such as hoarseness, choking/coughing while drinking were observed in those 20 patients. Conclusion Modified cervical sympathectomy seems to be a feasible and effective method for the treatment of tic disorders with paroxysmal spasm as the main manifestation with relatively few complications or adverse reactions. Key words: Tic disorders; Sympathectomy; Neck; Treatment outcome