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1.
Mov Disord ; 39(1): 183-191, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38146055

RESUMEN

BACKGROUND: Tourette syndrome (TS) tics are typically quantified using "paper and pencil" rating scales that are susceptible to factors that adversely impact validity. Video-based methods to more objectively quantify tics have been developed but are challenged by reliance on human raters and procedures that are resource intensive. Computer vision approaches that automate detection of atypical movements may be useful to apply to tic quantification. OBJECTIVE: The current proof-of-concept study applied a computer vision approach to train a supervised deep learning algorithm to detect eye tics in video, the most common tic type in patients with TS. METHODS: Videos (N = 54) of 11 adolescent patients with TS were rigorously coded by trained human raters to identify 1.5-second clips depicting "eye tic events" (N = 1775) and "non-tic events" (N = 3680). Clips were encoded into three-dimensional facial landmarks. Supervised deep learning was applied to processed data using random split and disjoint split regimens to simulate model validity under different conditions. RESULTS: Area under receiver operating characteristic curve was 0.89 for the random split regimen, indicating high accuracy in the algorithm's ability to properly classify eye tic vs. non-eye tic movements. Area under receiver operating characteristic curve was 0.74 for the disjoint split regimen, suggesting that algorithm generalizability is more limited when trained on a small patient sample. CONCLUSIONS: The algorithm was successful in detecting eye tics in unseen validation sets. Automated tic detection from video is a promising approach for tic quantification that may have future utility in TS screening, diagnostics, and treatment outcome measurement. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.


Asunto(s)
Aprendizaje Profundo , Trastornos del Movimiento , Trastornos de Tic , Tics , Síndrome de Tourette , Adolescente , Humanos , Tics/diagnóstico , Trastornos de Tic/diagnóstico , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/terapia , Resultado del Tratamiento
2.
Eur J Neurol ; 31(6): e16262, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38400635

RESUMEN

BACKGROUND AND PURPOSE: The aim was to test the specificity of phenomenological criteria for functional tic-like behaviours (FTLBs). The European Society for the Study of Tourette Syndrome (ESSTS) criteria for the diagnosis of FTLBs include three major criteria: age at symptom onset ≥12 years, rapid evolution of symptoms and specific phenomenology. METHODS: Children and adolescents with primary tic disorders have been included in a Registry in Calgary, Canada, since 2017. Using the Yale Global Tic Severity Scale, the proportion of youth with primary tic disorders who met specific phenomenological criteria for FTLBs at first visit was assessed: (1) having ≥1 specific complex motor tic commonly seen in FTLBs, including complex arm/hand movements, self-injurious behaviour, blocking, copropraxia; (2) having ≥1 specific complex phonic tic commonly seen in FTLBs, including saying words, phrases, disinhibited speech, coprolalia; (3) having a greater number of complex tics than simple tics. Children seen for the first time between 2017 and 2019 and between 2021 and 2023 were analysed separately. RESULTS: Of 156 participants included between 2017 and 2019, high specificity (94.2%) of the age at onset criterion (≥12 years) and of having at least two complex motor behaviours and one complex phonic behaviour at first visit (96.2%) was observed. Some of the complex motor tics had lower specificity. The specificity of the FTLB diagnostic criterion of having more complex tics than simple tics was 89.7%. There was no significant difference in specificity of the criteria for children seen for the first time between 2017 and 2019 and between 2021 and 2023 (n = 149). CONCLUSION: This information supports the use of the ESSTS criteria for FTLBs in clinical practice.


Asunto(s)
Síndrome de Tourette , Humanos , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/fisiopatología , Niño , Adolescente , Masculino , Femenino , Sensibilidad y Especificidad , Tics/diagnóstico , Tics/fisiopatología , Trastornos de Tic/diagnóstico , Trastornos de Tic/fisiopatología , Sistema de Registros , Canadá
3.
Behav Res Methods ; 56(4): 4073-4084, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38472640

RESUMEN

Tic disorders (TD), including Tourette Syndrome, are characterized by involuntary, repetitive movements and/or vocalizations that can lead to persistent disability and impairment across the lifespan. Existing research demonstrates that video-based behavioral coding (VBBC) methods can be used to reliably quantify tics, enabling a more objective approach to tic measurement above and beyond standardly used TD questionnaires. VBBC is becoming more popular given the ease and ubiquity of obtaining patient videos. However, rigor and reproducibility of this work has been limited by undescribed and unstandardized approaches to using VBBC methods in TD research. The current paper describes "best practices" for VBBC in TD research, which have been tested and refined in our research over the past 15+ years, including considerations for data acquisition, coding implementation, interrater reliability demonstration, and methods reporting. We also address ethical considerations for researchers using this method.


Asunto(s)
Trastornos de Tic , Tics , Grabación en Video , Humanos , Grabación en Video/métodos , Tics/diagnóstico , Trastornos de Tic/diagnóstico , Reproducibilidad de los Resultados , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/fisiopatología , Proyectos de Investigación
4.
BMC Neurosci ; 24(1): 57, 2023 10 31.
Artículo en Inglés | MEDLINE | ID: mdl-37907857

RESUMEN

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-1ß and TNF-α, among others, but the identification of key cytokines are still necessary.


Asunto(s)
Trastornos de Tic , Tics , Síndrome de Tourette , Niño , Humanos , Masculino , Femenino , Tics/diagnóstico , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/psicología , Citocinas , Factor de Necrosis Tumoral alfa , Calidad de Vida , Índice de Severidad de la Enfermedad , Trastornos de Tic/diagnóstico , Trastornos de Tic/psicología
5.
J Neurol Neurosurg Psychiatry ; 94(9): 751-756, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37169545

RESUMEN

BACKGROUND: Reliably applied criteria to differentiate functional from primary tics are lacking. In the absence of biological markers, the development of new diagnostic criteria to assist clinicians is predicated on expert judgement and consensus. This study examines the level of diagnostic agreement of experts in tic disorders using video footage and clinical descriptions. METHODS: Using a two-part survey, eight experts in the diagnosis and management of tics were first asked to study 24 case videos of adults with primary tics, functional tics or both and to select a corresponding diagnosis. In the second part of the survey, additional clinical information was provided, and the diagnosis was then reconsidered. Inter-rater agreement was measured using Fleiss' kappa. In both study parts, the factors which influenced diagnostic decision-making and overall diagnostic confidence were reviewed. RESULTS: Based on phenomenology alone, the diagnostic agreement among the expert raters was only fair for the pooled diagnoses (κ=0.21) as well as specifically for functional (κ=0.26) and primary tics (κ=0.24). Additional clinical information increased overall diagnostic agreement to moderate (κ=0.51) for both functional (κ=0.6) and primary tics (κ=0.57). The main factors informing diagnosis were tic semiology, age at tic onset, presence of premonitory urges, tic suppressibility, the temporal latency between tic onset and peak severity, precipitants and tic triggers and changes in the overall phenotypic presentation. CONCLUSIONS: This study confirmed that in the absence of clinical information, the diagnostic distinction between primary and functional tics is often difficult, even for expert clinicians.


Asunto(s)
Trastornos de Tic , Tics , Síndrome de Tourette , Adulto , Humanos , Tics/diagnóstico , Síndrome de Tourette/diagnóstico , Trastornos de Tic/diagnóstico
6.
Mov Disord ; 38(7): 1327-1335, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-37166278

RESUMEN

BACKGROUND: Video-based tic detection and scoring is useful to independently and objectively assess tic frequency and severity in patients with Tourette syndrome. In trained raters, interrater reliability is good. However, video ratings are time-consuming and cumbersome, particularly in large-scale studies. Therefore, we developed two machine learning (ML) algorithms for automatic tic detection. OBJECTIVE: The aim of this study was to evaluate the performances of state-of-the-art ML approaches for automatic video-based tic detection in patients with Tourette syndrome. METHODS: We used 64 videos of n = 35 patients with Tourette syndrome. The data of six subjects (15 videos with ratings) were used as a validation set for hyperparameter optimization. For the binary classification task to distinguish between tic and no-tic segments, we established two different supervised learning approaches. First, we manually extracted features based on landmarks, which served as input for a Random Forest classifier (Random Forest). Second, a fully automated deep learning approach was used, where regions of interest in video snippets were input to a convolutional neural network (deep neural network). RESULTS: Tic detection F1 scores (and accuracy) were 82.0% (88.4%) in the Random Forest and 79.5% (88.5%) in the deep neural network approach. CONCLUSIONS: ML algorithms for automatic tic detection based on video recordings are feasible and reliable and could thus become a valuable assessment tool, for example, for objective tic measurements in clinical trials. ML algorithms might also be useful for the differential diagnosis of tics. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.


Asunto(s)
Trastornos de Tic , Tics , Síndrome de Tourette , Humanos , Tics/diagnóstico , Síndrome de Tourette/diagnóstico , Reproducibilidad de los Resultados , Trastornos de Tic/diagnóstico , Aprendizaje Automático
7.
J Neural Transm (Vienna) ; 130(7): 931-936, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-37117738

RESUMEN

Tics are rapid, recurrent, non-rhythmic movements or emitted sounds. Tics are the hallmark of Tourette syndrome (TS); however, a number of other disorders may be associated with tics, so-called secondary tic disorders (STD). We assessed clinical history and performed blinded evaluations of video-recordings from patients with TS and STD in order to identify features that may differentiate tics associated with TS vs STD. There were 156 patients with TS and 38 with STD, 21 of whom had functional (psychogenic) tics. Patients with TS were more frequently male and had a younger age at onset. Tics in TS tend to involve muscles in the cranial-cervical area more often and have greater severity and complexity than those in patients with STD. Similar findings were observed when contrasting patients with TS with patients with functional tics only. Simple phonic tics showed the greatest diagnostic accuracy for TS, compared with STD, but marked overlap in the types of tics and comorbidities was observed between patients with TS and STD. Patients with TS were more likely males, had a younger age at onset, phonic tics and motor tics affecting predominantly the head and neck area, and had a greater complexity and severity of tics than those with STD. When these features are absent a consideration should be given to the possibility of a tic disorder other than TS.


Asunto(s)
Trastornos de Tic , Tics , Síndrome de Tourette , Femenino , Humanos , Masculino , Comorbilidad , Diagnóstico Diferencial , Trastornos de Tic/diagnóstico , Trastornos de Tic/etiología , Síndrome de Tourette/diagnóstico , Tics/diagnóstico , Tics/etiología
8.
Semin Neurol ; 43(1): 123-146, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-36854394

RESUMEN

Tics, stereotypies, akathisia, and restless legs fall at different places on the spectrum of discrete, unwanted and potentially disabling motor routines. Unlike tremor, chorea, myoclonus, or dystonia, this subgroup of abnormal movements is characterized by the subject's variable ability to inhibit or release undesired motor patterns on demand. Though it may be sometimes clinically challenging, it is crucial to distinguish these "unvoluntary" motor behaviors because secondary causes and management approaches differ substantially. To this end, physicians must consider the degree of repetitiveness of the movements, the existence of volitional control, and the association with sensory symptoms, or cognitive-ideational antecedent. This review aims to summarize the current existing knowledge on phenomenology, diagnosis, and treatment of tics, stereotypies, akathisia, and restless leg syndrome.


Asunto(s)
Trastornos del Movimiento , Síndrome de las Piernas Inquietas , Tics , Humanos , Síndrome de las Piernas Inquietas/diagnóstico , Tics/diagnóstico , Tics/complicaciones , Agitación Psicomotora/complicaciones , Trastornos del Movimiento/diagnóstico , Trastornos del Movimiento/etiología , Temblor
9.
J Neuropsychiatry Clin Neurosci ; 35(4): 352-360, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37089074

RESUMEN

OBJECTIVE: Among adults with Tourette syndrome, depression and anxiety symptoms are widely prevalent and consistently associated with poor quality of life. Important knowledge gaps remain regarding mood and anxiety dimensions of the adult Tourette syndrome phenotype. Taking a dimensional approach, this study sought to determine the prevalence, severity, and clinical correlates of depression and anxiety symptoms in a clinical sample of adults with Tourette syndrome and other chronic tic disorders. METHODS: A retrospective chart review was conducted of all adults with a chronic tic disorder presenting to a tertiary care Tourette syndrome clinic between December 2020 and July 2022. Information extracted during chart review included data from scales administered as part of routine care: Quality of Life in Neurological Disorders (Neuro-QoL) Depression Short Form, Neuro-QoL Anxiety Short Form, Adult Attention-Deficit/Hyperactivity Disorder Self-Report Screening Scale, Dimensional Obsessive-Compulsive Scale, and Yale Global Tic Severity Scale. Relationships between variables were examined by conducting between-group, correlation, and multivariable regression analyses. RESULTS: Data from 120 adult patients with a chronic tic disorder (77 men and 43 women) were analyzed. Neuro-QoL Anxiety scores were elevated in 66% of the cohort; Neuro-QoL Depression scores were elevated in 26%. Neuro-QoL Anxiety scores were significantly higher than general population norms, whereas Neuro-QoL Depression scores were not. After adjustment for covariates, depressive and anxiety symptom severity scores were significantly associated with each other and with obsessive-compulsive disorder symptom severity but not with tic severity. Sex-based differences emerged in the analyses. CONCLUSIONS: Among adults with chronic tic disorder, anxiety symptoms were more prevalent and severe than depressive symptoms, co-occurring psychiatric symptoms were more tightly linked with each other than with tic severity, and sex-based differences were evident.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Trastornos de Tic , Tics , Síndrome de Tourette , Masculino , Humanos , Adulto , Femenino , Síndrome de Tourette/complicaciones , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/epidemiología , Calidad de Vida/psicología , Tics/diagnóstico , Tics/epidemiología , Depresión/diagnóstico , Depresión/epidemiología , Depresión/psicología , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Trastornos de Tic/diagnóstico , Trastornos de Tic/epidemiología , Trastornos de Tic/complicaciones , Ansiedad/diagnóstico , Ansiedad/epidemiología , Ansiedad/psicología , Trastornos de Ansiedad/diagnóstico , Trastornos de Ansiedad/epidemiología , Trastornos de Ansiedad/complicaciones , Trastorno por Déficit de Atención con Hiperactividad/psicología
10.
Neuropediatrics ; 54(2): 89-98, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36473491

RESUMEN

Tourette syndrome and chronic tic disorders are characterized by the presence of tics. Different behavioral therapies have shown to be efficacious for treating tics in children and adolescents, but Exposure and Response Prevention (ERP) is a less researched method. However, ERP is a method often used in the clinical setting. Therefore, the present study evaluated the severity of tics over time from beginning of ERP to follow-up approximately 1 year after last training session.In total, 116 patients treated with ERP face to face or ERP via web-based videoconferencing were included. The primary outcome measure was tic severity measured with the Danish version of the Yale Global Tic Severity Scale.The results showed that tic severity decreased during ERP and lasted in the follow-up period, with a statistically higher decrease in the group with patients who completed ERP as planned and the group that stopped earlier than planned because of reduction in tics, compared with those who dropped out due to lack of motivation (p < 0.001).The study concludes that ERP seems to have an immediate and a long-term effect on severity of tics, especially in those who complete the program or those who discontinue earlier due to good results.


Asunto(s)
Trastornos de Tic , Tics , Síndrome de Tourette , Humanos , Niño , Adolescente , Tics/diagnóstico , Tics/prevención & control , Síndrome de Tourette/complicaciones , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/terapia , Índice de Severidad de la Enfermedad , Trastornos de Tic/complicaciones , Trastornos de Tic/diagnóstico , Trastornos de Tic/terapia
11.
CNS Spectr ; 27(6): 747-753, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-34528504

RESUMEN

BACKGROUND: Highlighting the relationship between obsessive-compulsive disorder (OCD) and tic disorder (TD), two highly disabling, comorbid, and difficult-to-treat conditions, Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5) acknowledged a new "tic-related" specifier for OCD, ie, obsessive-compulsive tic-related disorder (OCTD). As patients with OCTD may frequently show poor treatment response, the aim of this multicenter study was to investigate rates and clinical correlates of response, remission, and treatment resistance in a large multicenter sample of OCD patients with versus without tics. METHODS: A sample of 398 patients with a DSM-5 diagnosis of OCD with and without comorbid TD was assessed from 10 different psychiatric departments across Italy. For the purpose of the study, treatment response profiles in the whole sample were analyzed comparing the rates of response, remission, and treatment-resistance as well as related clinical features. Multivariate logistic regressions were performed to identify possible factors associated with treatment response. RESULTS: The remission group was associated with later ages of onset of TD and OCD. Moreover, significantly higher rates of psychiatric comorbidities, TD, and lifetime suicidal ideation and attempts emerged in the treatment-resistant group, with larger degrees of perceived worsened quality of life and family involvement. CONCLUSIONS: Although remission was associated with later ages of OCD and TD onset, specific clinical factors, such as early onset and presence of psychiatric comorbidities and concomitant TD, predicted a worse treatment response with a significant impairment in quality of life for both patients and their caregivers, suggesting a worse profile of treatment response for patients with OCTD.


Asunto(s)
Trastorno Obsesivo Compulsivo , Trastornos de Tic , Tics , Humanos , Comorbilidad , Trastorno Obsesivo Compulsivo/psicología , Trastorno Obsesivo Compulsivo/terapia , Calidad de Vida , Trastornos de Tic/diagnóstico , Trastornos de Tic/psicología , Trastornos de Tic/terapia , Tics/diagnóstico , Tics/psicología , Tics/terapia
12.
BMC Psychiatry ; 22(1): 190, 2022 03 17.
Artículo en Inglés | MEDLINE | ID: mdl-35300642

RESUMEN

BACKGROUND: The lifetime prevalence of obsessive - compulsive disorder (OCD) is currently estimated at 2 - 3% and the prevalence in first-degree family members is estimated to range between 10 and 11%. Separating OCD from other anxiety disorders and including it into the new "obsessive - compulsive and related disorders" (OCRDs) category has had a dramatic impact on the diagnosis, while also contributing to the better understanding of the genetics of these disorders. Indeed, grouping OCD with body dysmorphic disorder (BDD), and body-focused repetitive behaviors such as trichotillomania (hair pulling), onychophagia (nail biting), and excoriation (skin picking) into the same diagnostic family has resulted in a much greater lifetime prevalence (> 9%). These diagnostic changes necessitate an updated epidemiological study, thus motivating this investigation. METHODS: The study sample comprised of 457 patient's cases from an Israeli and an Australian OCD center. Interviews were completed as a part of the intake or during treatment in each of the centers. Prevalence of OCD, OCRDs, tics, and other psychiatric comorbidities in first- and second-degree relatives was assessed by interviewing the OCD patients. Interviews were conducted by at least two researchers (LC, OBA, JZ) and only family information on which the interviewers have reached consensus was considered. RESULTS: Initial analyses revealed an increase of OCD and OCRD prevalence in first- and second-degree family members as compared to the current literature due to reclassification of these disorders in DSM-5. CONCLUSION: The new category of OCRD has changed the landscape of epidemiological studies in OCD. Further and broader studies are needed in order to better understand the lifetime prevalence of OCRD in first- and second-degrees family member.


Asunto(s)
Trastorno Obsesivo Compulsivo , Tics , Australia , Comorbilidad , Humanos , Trastorno Obsesivo Compulsivo/diagnóstico , Trastorno Obsesivo Compulsivo/epidemiología , Trastorno Obsesivo Compulsivo/psicología , Prevalencia , Estudios Prospectivos , Tics/diagnóstico , Tics/epidemiología
13.
Eur Child Adolesc Psychiatry ; 31(3): 377-382, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-34244849

RESUMEN

In 2011 a working group of the European Society for the Study of Tourette syndrome (ESSTS) developed the first European Guidelines for Tourette syndrome (TS) published in the ECAP journal. After a decade ESSTS now presents updated guidelines, divided into four sections: Part I: assessment, Part II: psychological interventions, Part III: pharmacological treatment and Part IV: deep brain stimulation (DBS). In this paper, we summarise new developments described in the guidelines with respect to assessment and treatment of tics. Further, summary findings from a recent survey conducted amongst TS experts on these same topics are presented, as well as the first European patient representative statement on research. Finally, an updated decision tree is introduced providing a practical algorithm for the treatment of patients with TS. Interestingly, in the last decade there has been a significant shift in assessment and treatment of tics, with more emphasis on non-pharmacological treatments.


Asunto(s)
Trastornos de Tic , Tics , Síndrome de Tourette , Humanos , Trastornos de Tic/diagnóstico , Trastornos de Tic/terapia , Tics/diagnóstico , Tics/terapia , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/psicología , Síndrome de Tourette/terapia
14.
Neurol Sci ; 42(4): 1559-1561, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33340349

RESUMEN

BACKGROUND: The association of stereotypies and tics is not rare in children with severe autism spectrum disorder (ASD). The differential diagnosis between stereotypies and tics in this patient population can be difficult; however, it could be clinically relevant because of treatment implications. METHODS: A total of 108 video recordings of repetitive behaviors in young patients with stereotypies in the context of ASD were reviewed by a movement disorders expert and a trainee, in order to assess the prevalence of possible co-morbid tics. The Modified Rush Videotape Rating Scale (MRVS) was used to rate tic frequency and severity. RESULTS: Out of 27 patients with stereotypies (24 males; mean age 14 years), 18 (67%) reported possible tics. The most frequently observed tics were eye blinking, shoulder shrugging, neck bending, staring, and throat clearing. The mean MRVS score was 5, indicating mild tic severity. The only significant difference between patients with tics and patients without tics was the total number of stereotypies, which was higher in the subgroup of patients without tics (p = 0.01). CONCLUSIONS: Expert review of video-recordings of repetitive behaviors in young patients with ASD and stereotypies suggests the possibility of a relatively high rate of co-morbid tics. These findings need to be integrated with a comprehensive clinical assessment focusing on the diagnostic re-evaluation of heterogeneous motor manifestations.


Asunto(s)
Trastorno del Espectro Autista , Trastorno de Movimiento Estereotipado , Trastornos de Tic , Tics , Síndrome de Tourette , Adolescente , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/epidemiología , Niño , Humanos , Masculino , Índice de Severidad de la Enfermedad , Trastorno de Movimiento Estereotipado/diagnóstico , Trastorno de Movimiento Estereotipado/epidemiología , Trastornos de Tic/complicaciones , Trastornos de Tic/diagnóstico , Trastornos de Tic/epidemiología , Tics/diagnóstico , Tics/epidemiología , Grabación en Video
15.
Pharm Stat ; 20(3): 675-691, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33594741

RESUMEN

The COVID-19 pandemic has manifold impacts on clinical trials. In response, drug regulatory agencies and public health bodies have issued guidance on how to assess potential impacts on ongoing clinical trials and stress the importance of a risk-assessment as a pre-requisite for modifications to the clinical trial conduct. This article presents a simulation study to assess the impact on the power of an ongoing clinical trial without the need to unblind trial data and compromise trial integrity. In the context of the CANNA-TICS trial, investigating the effect of nabiximols on reducing the total tic score of the Yale Global Tic Severity Scale (YGTSS-TTS) in patients with chronic tic disorders and Tourette syndrome, the impact of the two COVID-19 related intercurrent events handled by a treatment policy strategy is investigated using a multiplicative and additive data generating model. The empirical power is examined for the analysis of the YGTSS-TTS as a continuous and dichotomized endpoint using analysis techniques adjusted and unadjusted for the occurrence of the intercurrent event. In the investigated scenarios, the simulation studies showed that substantial power losses are possible, potentially making sample size increases necessary to retain sufficient power. However, we were also able to identify scenarios with only limited loss of power. By adjusting for the occurrence of the intercurrent event, the power loss could be diminished to different degrees in most scenarios. In summary, the presented risk assessment approach may support decisions on trial modifications like sample size increases, while maintaining trial integrity.


Asunto(s)
COVID-19/prevención & control , Cannabidiol/uso terapéutico , Simulación por Computador , Dronabinol/uso terapéutico , Salud Mental , Distanciamiento Físico , Ensayos Clínicos Controlados Aleatorios como Asunto , Proyectos de Investigación , Trastornos de Tic/tratamiento farmacológico , Tics/tratamiento farmacológico , COVID-19/psicología , COVID-19/transmisión , Cannabidiol/efectos adversos , Interpretación Estadística de Datos , Dronabinol/efectos adversos , Combinación de Medicamentos , Determinación de Punto Final , Humanos , Ensayos Clínicos Controlados Aleatorios como Asunto/estadística & datos numéricos , Proyectos de Investigación/estadística & datos numéricos , Tamaño de la Muestra , Índice de Severidad de la Enfermedad , Trastornos de Tic/diagnóstico , Trastornos de Tic/psicología , Tics/diagnóstico , Tics/psicología , Factores de Tiempo , Síndrome de Tourette/tratamiento farmacológico , Síndrome de Tourette/psicología , Resultado del Tratamiento
16.
J Neurol Neurosurg Psychiatry ; 91(12): 1261-1269, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-33087421

RESUMEN

Functional movement disorders (FMD) are proposed to reflect a specific problem with voluntary control of movement, despite normal intent to move and an intact neural capacity for movement. In many cases, a positive diagnosis of FMD can be established on clinical grounds. However, the diagnosis remains challenging in certain scenarios, and there is a need for predictors of treatment response and long-term prognosis.In this context, we performed a systematic review of biomarkers in FMD. Eighty-six studies met our predefined criteria and were included.We found fairly reliable electroencephalography and electromyography-based diagnostic biomarkers for functional myoclonus and tremor. Promising biomarkers have also been described for functional paresis, gait and balance disorders. In contrast, there is still a lack of diagnostic biomarkers of functional dystonia and tics, where clinical diagnosis is often also more challenging. Importantly, many promising findings focus on pathophysiology and reflect group-level comparisons, but cannot differentiate on an individual basis. Some biomarkers also require access to time-consuming and resource-consuming techniques such as functional MRI.In conclusion, there are important gaps in diagnostic biomarkers in FMD in the areas of most clinical uncertainty. There is also is a lack of treatment response and prognostic biomarkers to aid in the selection of patients who would benefit from rehabilitation and other forms of treatment.


Asunto(s)
Encéfalo/diagnóstico por imagen , Trastornos de Conversión/diagnóstico , Electroencefalografía , Electromiografía , Neuroimagen Funcional , Trastornos del Movimiento/diagnóstico , Biomarcadores , Encéfalo/fisiopatología , Trastornos de Conversión/fisiopatología , Distonía/diagnóstico , Distonía/fisiopatología , Trastornos Neurológicos de la Marcha/diagnóstico , Trastornos Neurológicos de la Marcha/fisiopatología , Humanos , Imagen por Resonancia Magnética , Trastornos del Movimiento/fisiopatología , Mioclonía/diagnóstico , Mioclonía/fisiopatología , Plasticidad Neuronal , Paresia/diagnóstico , Paresia/fisiopatología , Tomografía de Emisión de Positrones , Tiempo de Reacción , Tics/diagnóstico , Tics/fisiopatología , Temblor/diagnóstico , Temblor/fisiopatología
17.
J Nerv Ment Dis ; 208(1): 21-27, 2020 01.
Artículo en Inglés | MEDLINE | ID: mdl-31688495

RESUMEN

Tic-related obsessive-compulsive disorder (OCD) may be a unique OCD subtype. This study examined whether neurological soft signs (NSSs) of patients with tic-related and tic-free OCD enable discrimination of these subgroups. We used the Neurological Evaluation Scale to assess 32 patients with tic-related and 94 with tic-free OCD, as well as 84 controls. Most patients with tic-related OCD were male, with earlier illness onset and poorer insight scores than those of patients with tic-free OCD. Patients with tic-related OCD had poorer motor coordination, sensory integration, and motor sequencing than did tic-free patients. Logistic regression using NSS subscale scores predicted tic-related OCD. Patients with tic-related OCD displayed greater neurodevelopmental abnormalities than did tic-free patients. NSSs of the former group suggest the need to separate this subgroup. Our results also support the newly introduced tic-related specifier in the fifth edition of the Diagnostic and statistical manual of mental disorders.


Asunto(s)
Trastorno Obsesivo Compulsivo/diagnóstico , Tics/psicología , Adulto , Estudios de Casos y Controles , Estudios Transversales , Femenino , Humanos , Masculino , Trastorno Obsesivo Compulsivo/clasificación , Trastorno Obsesivo Compulsivo/patología , Trastorno Obsesivo Compulsivo/fisiopatología , Escalas de Valoración Psiquiátrica , Tics/diagnóstico , Tics/patología , Tics/fisiopatología
18.
J Paediatr Child Health ; 56(1): 136-141, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31206903

RESUMEN

AIM: The diagnosis and management of tic disorders and Tourette syndrome (TS) can be challenging. A better understanding of current approaches by paediatricians is important to inform research and education to improve patient outcomes. We aimed to investigate current assessment and management practices for tics/TS by Australian paediatricians. METHODS: An online survey was sent to members of the Australian Paediatric Research Network. Primary outcomes of interest included assessment processes, referrals, behavioural interventions and pharmacological management. Four scenarios were presented to elicit information regarding treatment of different types of cases. RESULTS: Of 340 eligible paediatricians, 139 (41%) responded, with 116 (84%) reporting that they diagnose and manage tics/TS as part of their practice. Questionnaires were used more to identify comorbidities (43%) than to quantify tics (12%). Referrals were most likely to be made to psychologists. Medication was considered important in the management of TS by 45% of respondents, with clonidine identified as the first-choice medication by 69%. There was wide variation in both the pharmacological and behavioural management strategies reported. CONCLUSIONS: There is substantial practice variation among Australian paediatricians in the assessment and management of patients referred with tics/TS. This may reflect insufficient evidence regarding best practice, as well as limited training in this area. There is a need for improved education of Australian paediatricians in the assessment and management of tics/TS, as well as further research to identify optimal treatments.


Asunto(s)
Trastornos de Tic , Tics , Síndrome de Tourette , Australia , Niño , Humanos , Pediatras , Trastornos de Tic/diagnóstico , Trastornos de Tic/terapia , Tics/diagnóstico , Tics/tratamiento farmacológico , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/terapia
19.
Ann Neurol ; 82(6): 1029-1031, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-29265544

RESUMEN

This informal observational study on the tic prevalence in 40 young singers was carried out during a public concert of Bach's Christmas Oratorio. Tics were highly prevalent (present in 35% = 14 boys). Given the possibility of an overrepresentation of perioral tics in this group of highly achieving young vocal artists, one might speculate that there is a relationship between the ability of the motor system to produce a surplus of movements (tics) and high performance (exquisite singing). Despite the unusual study design, with all its limitations, our observations strengthen the view that tics may be related to motor learning. However, alternative explanations, for example, that repetitive motor performance or personality traits in singers drive tic development, could also be true. In light of the boys choir's enchantment, the sole perception of tics as a disorder falls short of the properties of the motor system. Ann Neurol 2017;82:1029-1031.


Asunto(s)
Canto/fisiología , Tics/diagnóstico , Adolescente , Niño , Humanos , Masculino , Tics/fisiopatología
20.
Compr Psychiatry ; 87: 38-45, 2018 11.
Artículo en Inglés | MEDLINE | ID: mdl-30195099

RESUMEN

Children with persistent (chronic) tic disorders (PTDs) experience impairment across multiple domains of functioning, but given high rates of other non-tic-related conditions, it is often difficult to differentiate the extent to which such impairment is related to tics or to other problems. The current study used the Child Tourette's Syndrome Impairment Scale - Parent Report (CTIM-P) to examine parents' attributions of their child's impairment in home, school, and social domains in a sample of 58 children with PTD. Each domain was rated on the extent to which the parents perceived that impairment was related to tics versus non-tic-related concerns. In addition, the Yale Global Tic Severity Scale (YGTSS) was used to explore the relationship between tic-related impairment and tic severity. Results showed impairment in school and social activities was not differentially attributed to tics versus non-tic-related impairment, but impairment in home activities was attributed more to non-tic-related concerns than tics themselves. Moreover, tic severity was significantly correlated with tic-related impairment in home, school, and social activities, and when the dimensions of tic severity were explored, impairment correlated most strongly with motor tic complexity. Results suggest that differentiating tic-related from non-tic-related impairment may be clinically beneficial and could lead to treatments that more effectively target problems experienced by children with PTDs.


Asunto(s)
Trastornos de Tic/diagnóstico , Trastornos de Tic/psicología , Tics/diagnóstico , Tics/psicología , Adolescente , Niño , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Trastornos de la Personalidad/diagnóstico , Trastornos de la Personalidad/epidemiología , Trastornos de la Personalidad/psicología , Índice de Severidad de la Enfermedad , Conducta Social , Percepción Social , Trastornos de Tic/epidemiología , Tics/epidemiología , Síndrome de Tourette
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