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1.
Plant Cell ; 34(11): 4569-4582, 2022 10 27.
Artículo en Inglés | MEDLINE | ID: mdl-35929083

RESUMEN

The complexes translocon at the outer envelope membrane of chloroplasts and translocon at the inner envelope membrane of chloroplasts (TIC) mediate preprotein translocation across the chloroplast outer and inner envelope membranes, respectively. Tic20, Tic56, Tic100, and Tic214 form a stable one-megadalton TIC whose function is essential for Arabidopsis thaliana and Chlamydomonas reinhardtii. Tic20 plays a central role in preprotein translocation by forming a protein-conducting channel. Tic56, Tic100, and Tic214 are also indispensable for TIC function, but whether other components are required for this process remain unclear. Here, we demonstrate that a 12-kDa protein named Tic12 is part of the TIC in A. thaliana and participates in preprotein translocation across the inner envelope membrane. Tic12 was tightly associated with the TIC but disassociated under high-salt conditions in combination with Triton X-100. Site-specific UV crosslinking experiments revealed that Tic12 and Tic20 directly interact with the transit peptide of a translocating preprotein. The tic12 null mutants are albino and seedling lethal, similar to the other tic null mutants. Tic12 and Tic20 were also involved in preprotein translocation in (Pisum sativum) pea chloroplasts. Thus, Tic12 is an essential constituent that forms the functional core together with Tic20 in the one-megadalton TIC.


Asunto(s)
Proteínas de Arabidopsis , Arabidopsis , Tics , Arabidopsis/genética , Arabidopsis/metabolismo , Proteínas de Arabidopsis/genética , Proteínas de Arabidopsis/metabolismo , Tics/metabolismo , Proteínas de Transporte de Membrana/metabolismo , Transporte de Proteínas , Cloroplastos/metabolismo , Pisum sativum/metabolismo
2.
Plant Cell ; 34(8): 2907-2924, 2022 07 30.
Artículo en Inglés | MEDLINE | ID: mdl-35543486

RESUMEN

To enhance plant fitness under natural conditions, the circadian clock is synchronized and entrained by light via photoreceptors. In turn, the circadian clock exquisitely regulates the abundance and activity of photoreceptors via largely uncharacterized mechanisms. Here we show that the clock regulator TIME FOR COFFEE (TIC) controls the activity of the far-red light photoreceptor phytochrome A (phyA) at multiple levels in Arabidopsis thaliana. Null mutants of TIC displayed dramatically increased sensitivity to light irradiation with respect to hypocotyl growth, especially to far-red light. RNA-sequencing demonstrated that TIC and phyA play largely opposing roles in controlling light-regulated gene expression at dawn. Additionally, TIC physically interacts with the transcriptional repressor TOPLESS (TPL), which was associated with the significantly increased PHYA transcript levels in the tic-2 and tpl-1 mutants. Moreover, TIC interacts with phyA in the nucleus, thereby affecting phyA protein turnover and the formation of phyA nuclear speckles following light irradiation. Genetically, phyA was found to act downstream of TIC in regulating far red light-inhibited growth. Taken together, these findings indicate that TIC acts as a major negative regulator of phyA by integrating transcriptional and post-translational mechanisms at multiple levels.


Asunto(s)
Proteínas de Arabidopsis , Arabidopsis , Fitocromo , Tics , Arabidopsis/metabolismo , Proteínas de Arabidopsis/metabolismo , Hipocótilo , Luz , Fitocromo/genética , Fitocromo/metabolismo , Fitocromo A/genética , Fitocromo A/metabolismo , Fitocromo B/genética , Fitocromo B/metabolismo
3.
Cogn Affect Behav Neurosci ; 24(4): 660-680, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38777988

RESUMEN

Tourette syndrome (TS) has been associated with a rich set of symptoms that are said to be uncomfortable, unwilled, and effortful to manage. Furthermore, tics, the canonical characteristic of TS, are multifaceted, and their onset and maintenance is complex. A formal account that integrates these features of TS symptomatology within a plausible theoretical framework is currently absent from the field. In this paper, we assess the explanatory power of hierarchical generative modelling in accounting for TS symptomatology from the perspective of active inference. We propose a fourfold analysis of sensory, motor, and cognitive phenomena associated with TS. In Section 1, we characterise tics as a form of action aimed at sensory attenuation. In Section 2, we introduce the notion of epistemic ticcing and describe such behaviour as the search for evidence that there is an agent (i.e., self) at the heart of the generative hierarchy. In Section 3, we characterise both epistemic (sensation-free) and nonepistemic (sensational) tics as habitual behaviour. Finally, in Section 4, we propose that ticcing behaviour involves an inevitable conflict between distinguishable aspects of selfhood; namely, between the minimal phenomenal sense of self-which is putatively underwritten by interoceptive inference-and the explicit preferences that constitute the individual's conceptual sense of self. In sum, we aim to provide an empirically informed analysis of TS symptomatology under active inference, revealing a continuity between covert and overt features of the condition.


Asunto(s)
Interocepción , Síndrome de Tourette , Síndrome de Tourette/fisiopatología , Humanos , Interocepción/fisiología , Tics/fisiopatología , Autoimagen , Modelos Psicológicos
4.
Chembiochem ; 25(4): e202300712, 2024 02 16.
Artículo en Inglés | MEDLINE | ID: mdl-38015747

RESUMEN

Chemically induced proximity (CIP) refers to co-opting naturally occurring biological pathways using synthetic molecules to recruit neosubstrates that are not normally encountered or to enhance the affinity of naturally occurring interactions. Leveraging proximity biology through CIPs has become a rapidly evolving field and has garnered considerable interest in basic research and drug discovery. PROteolysis TArgeting Chimera (PROTAC) is a well-established CIP modality that induces the proximity between a target protein and an E3 ubiquitin ligase, causing target protein degradation via the ubiquitin-proteasome system. Inspired by PROTACs, several other induced proximity modalities have emerged to modulate both proteins and RNA over recent years. In this review, we summarize the critical advances and opportunities in the field, focusing on protein degraders, RNA degraders and non-degrader modalities such as post-translational modification (PTM) and protein-protein interaction (PPI) modulators. We envision that these emerging proximity-based drug modalities will be valuable resources for both biological research and therapeutic discovery in the future.


Asunto(s)
Tics , Humanos , Proteínas/metabolismo , Ubiquitina-Proteína Ligasas/metabolismo , Proteolisis , Descubrimiento de Drogas , ARN/metabolismo , Biología , Ligandos
5.
Ann Neurol ; 93(3): 472-478, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36565297

RESUMEN

The occurrence of motor/vocal tics, that is, "extra movements" and/or "extra vocalizations," is the leading diagnostic criterion for tic disorders. We show that extra movements are common also in healthy controls, so that a surplus of movements per se is not indicative of the presence of a tic disorder. This questions the usefulness of Diagnostic and Statistical Manual of Mental Disorders, 5th edition criteria for tic disorders in clinical practice. Apparently, it is not solely a surplus of movements that defines tic disorders. Instead, movement characteristics and patterns seem to play a crucial role. ANN NEUROL 2023;93:472-478.


Asunto(s)
Trastornos de Tic , Tics , Síndrome de Tourette , Humanos , Trastornos de Tic/diagnóstico , Trastornos de Tic/epidemiología , Movimiento , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Síndrome de Tourette/diagnóstico
6.
Mov Disord ; 39(3): 472-484, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38196315

RESUMEN

At present, clinical practice and research in movement disorders (MDs) focus on the "normalization" of altered movements. In this review, rather than concentrating on problems and burdens people with MDs undoubtedly have, we highlight their hidden potentials. Starting with current definitions of Parkinson's disease (PD), dystonia, chorea, and tics, we outline that solely conceiving these phenomena as signs of dysfunction falls short of their complex nature comprising both problems and potentials. Such potentials can be traced and understood in light of well-established cognitive neuroscience frameworks, particularly ideomotor principles, and their influential modern derivatives. Using these frameworks, the wealth of data on altered perception-action integration in the different MDs can be explained and systematized using the mechanism-oriented concept of perception-action binding. According to this concept, MDs can be understood as phenomena requiring and fostering flexible modifications of perception-action associations. Consequently, although conceived as being caught in a (trough) state of deficits, given their high flexibility, people with MDs also have high potential to switch to (adaptive) peak activity that can be conceptualized as hidden potentials. Currently, clinical practice and research in MDs are concerned with deficits and thus the "deep and wide troughs," whereas "scattered narrow peaks" reflecting hidden potentials are neglected. To better delineate and utilize the latter to alleviate the burden of affected people, and destigmatize their conditions, we suggest some measures, including computational modeling combined with neurophysiological methods and tailored treatment. © 2024 International Parkinson and Movement Disorder Society.


Asunto(s)
Corea , Distonía , Trastornos del Movimiento , Enfermedad de Parkinson , Tics , Humanos
7.
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
8.
Eur J Neurol ; 31(2): e16120, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37946628

RESUMEN

BACKGROUND AND PURPOSE: Children in developed countries spend a significant portion of their waking hours engaging with audiovisual content and video games. The impact of media consumption on children's health and well-being has been widely studied, including its effects on tic disorders. Previous studies have shown that tic frequency can both increase and decrease during activities like gaming and television watching, resulting in mixed findings. METHODS: To better understand the impact of audiovisual media on tics, we conducted a fine-grained tic manifestation analysis. We focused on the effects of the impact of a movie scene with suspensful elements and a video game designed to heighten anticipation, thought to stimulate phasic and striatal dopamine release. We closely monitored tic frequency throuhghout these experiences based on moment-to-moment tic annotation. The study included 20 participants (19 males aged 7-16) diagnosed with tic disorders (Yale Global Tic Severity Scale≥8), and we tested the replicability of our findings with an independent group of 36 children (15 females, aged 7-15) with tic disorders. RESULTS: During film viewing, we observed significant synchronization in the temporal tic patterns of various individuals despite diversity in their tic profiles. Furthermore, employing a video game developed for our study, we found that tic frequency increases during anticipation of a pending reward. This finding was replicated in a second experiment with an independent cohort. CONCLUSIONS: Our results indicate that tic frequency is affected by media elements in the short-term, and call for further investigation of the long-term impacts of exposure to such tic triggers.


Asunto(s)
Trastornos de Tic , Tics , Síndrome de Tourette , Juegos de Video , Masculino , Niño , Femenino , Humanos , Películas Cinematográficas , Juegos de Video/efectos adversos , Cuerpo Estriado
9.
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
10.
Eur J Neurol ; 31(1): e16051, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-37644767

RESUMEN

BACKGROUND AND PURPOSE: Very little is known about the long-term prognosis of patients with functional tic-like behaviours (FTLBs). We sought to characterize the trajectory of symptom severity over a 12-month period. METHODS: Patients with FTLBs were included in our prospective longitudinal child and adult clinical tic disorder registries at the University of Calgary. Patients were prospectively evaluated 6 and 12 months after their first clinical visit. Tic inventories and severity were measured with the Yale Global Tic Severity Scale (YGTSS). RESULTS: Eighty-three youths and adults with FTLBs were evaluated prospectively until April 2023. Mean YGTSS total tic severity scores were high at baseline, with a mean score of 29.8 points (95% confidence interval [CI] = 27.6-32.1). Fifty-eight participants were reevaluated at 6 months, and 32 participants were reevaluated at 12 months. The YGTSS total tic severity score decreased significantly from the first clinical visit to 6 months (raw mean difference = 8.9 points, 95% CI = 5.1-12.7, p < 0.0001), and from 6 to 12 months (raw mean difference = 6.4 points, 95% CI = 0.8-12.0, p = 0.01). Multivariable linear regression demonstrated that tic severity at initial presentation and the presence of other functional neurological symptoms were associated with higher YGTSS total tic scores at 6 months, whereas younger age at baseline, receiving cognitive behavioural therapy for anxiety and/or depression, and prescription of selective serotonin reuptake inhibitors were associated with lower YGTSS total tic scores at 6 months. CONCLUSIONS: We observed a meaningful improvement in tic severity scores in youth and adults with FTLBs over a period of 6-12 months.


Asunto(s)
COVID-19 , Trastornos de Tic , Tics , Síndrome de Tourette , Niño , Adulto , Humanos , Adolescente , Estudios de Seguimiento , Pandemias , Estudios Prospectivos , Índice de Severidad de la Enfermedad , COVID-19/complicaciones , Trastornos de Tic/epidemiología , Trastornos de Tic/terapia , Trastornos de Tic/complicaciones , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/psicología , Síndrome de Tourette/terapia
11.
BMC Neurol ; 24(1): 3, 2024 Jan 02.
Artículo en Inglés | MEDLINE | ID: mdl-38166709

RESUMEN

INTRODUCTION: Recently, studies on behavioral tic suppression techniques have gained popularity as opposed to pharmacological alternatives that often have potentially dangerous side effects. Differential Reinforcement of Other Behaviors therapy (DRO) is one such behavioral technique whose efficacy in tic suppression has been experimentally demonstrated albeit in studies with very few patients, and lacking statistical power. Here, we conducted a meta-analysis of these studies to improve their overall power and explore whether DRO intervention is really effective for tic suppression. MATERIALS AND METHODS: PubMed, Embase, PsycINFO, and Cochrane Library were searched from inception to August 30, 2023. Only original interventional studies that examined the efficacy of DRO for tic suppression were included. RESULTS: A total of 8 no control interventional studies involving 79 children with tic disorders were recruited. Most of the children had moderate tic severity. The pooled mean Yale Global Tic Severity Scale (YGTSS) score was 24.64 (95% CI: 21.99 - 30.12, p = < 0.00001, I2 = 87%). In terms of efficacy of the DRO technique for tic suppression, the results showed that DRO was effective in reducing tic frequency among the children. The pooled standardized mean difference (SMD) was -10.25 (95% CI: -14.71 - -5.79, p = < 0.00001) with I2 = 94%. CONCLUSION: In conclusion, this study revealed that DRO is potentially an effective tic suppression technique for temporarily managing tic disorder. It also showed that DRO could be employed for both moderate and severe tic disorders. However, the technique bears crucial limitations that limit its implementation outside of experimental settings. More studies are needed to address these limitations and improve its applicability in the real world.


Asunto(s)
Trastornos de Tic , Tics , Niño , Humanos , Tics/terapia , Trastornos de Tic/tratamiento farmacológico
12.
Brain ; 146(10): 4174-4190, 2023 10 03.
Artículo en Inglés | MEDLINE | ID: mdl-37141283

RESUMEN

Tourette syndrome is a childhood-onset neuropsychiatric disorder characterized by intrusive motor and vocal tics that can lead to self-injury and deleterious mental health complications. While dysfunction in striatal dopamine neurotransmission has been proposed to underlie tic behaviour, evidence is scarce and inconclusive. Deep brain stimulation (DBS) of the thalamic centromedian parafascicular complex (CMPf), an approved surgical interventive treatment for medical refractory Tourette syndrome, may reduce tics by affecting striatal dopamine release. Here, we use electrophysiology, electrochemistry, optogenetics, pharmacological treatments and behavioural measurements to mechanistically examine how thalamic DBS modulates synaptic and tonic dopamine activity in the dorsomedial striatum. Previous studies demonstrated focal disruption of GABAergic transmission in the dorsolateral striatum of rats led to repetitive motor tics recapitulating the major symptom of Tourette syndrome. We employed this model under light anaesthesia and found CMPf DBS evoked synaptic dopamine release and elevated tonic dopamine levels via striatal cholinergic interneurons while concomitantly reducing motor tic behaviour. The improvement in tic behaviour was found to be mediated by D2 receptor activation as blocking this receptor prevented the therapeutic response. Our results demonstrate that release of striatal dopamine mediates the therapeutic effects of CMPf DBS and points to striatal dopamine dysfunction as a driver for motor tics in the pathoneurophysiology of Tourette syndrome.


Asunto(s)
Estimulación Encefálica Profunda , Tics , Síndrome de Tourette , Humanos , Ratas , Animales , Niño , Tics/terapia , Síndrome de Tourette/terapia , Dopamina , Estimulación Encefálica Profunda/métodos , Tálamo
13.
Neuropediatrics ; 55(1): 67-70, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36809795

RESUMEN

Limited data are available regarding the impact of the coronavirus disease 2019 (COVID-19) pandemic on adolescents with Tourette syndrome (TS). We sought to compare sex differences in tic severity experienced by adolescents before and during the COVID-19 pandemic. We extracted from the electronic health record and retrospectively reviewed Yale Global Tic Severity Scores (YGTSS) from adolescents (ages 13 through 17) with TS presenting to our clinic before (36 months) and during (24 months) the pandemic. A total of 373 unique adolescent patient encounters (prepandemic: 199; pandemic: 173) were identified. Compared with prepandemic, girls accounted for a significantly greater proportion of visits during the pandemic (p < 0.001). Prepandemic, tic severity did not differ between girls and boys. During the pandemic, compared with girls, boys had less clinically severe tics (p = 0.003). During the pandemic, older girls, but not boys, had less clinically severe tics (ρ =- 0.32, p = 0.003). These findings provide evidence that, regarding tic severity assessed with YGTSS, the experiences of adolescent girls and boys with TS have differed during the pandemic.


Asunto(s)
Trastornos de Tic , Tics , Síndrome de Tourette , Adolescente , Humanos , Femenino , Masculino , Síndrome de Tourette/epidemiología , Pandemias , Estudios Retrospectivos , Índice de Severidad de la Enfermedad
14.
Cereb Cortex ; 33(7): 3922-3933, 2023 03 21.
Artículo en Inglés | MEDLINE | ID: mdl-35972405

RESUMEN

Tourette syndrome (TS) is a childhood-onset disorder in which tics are often preceded by premonitory sensory urges. More severe urges correlate with worse tics and can render behavioral therapies less effective. The supplementary motor area (SMA) is a prefrontal region believed to influence tic performance. To determine whether cortical physiological properties correlate with urges and tics, we evaluated, in 8-12-year-old right-handed TS children (n = 17), correlations of urge and tic severity scores and compared both to cortical excitability (CE) and short- and long-interval cortical inhibition (SICI and LICI) in both left and right M1. We also modeled these M1 transcranial magnetic stimulation measures with SMA gamma-amino butyric acid (GABA) levels in TS and typically developing control children (n = 16). Urge intensity correlated strongly with tic scores. More severe urges correlated with lower CE and less LICI in both right and left M1. Unexpectedly, in right M1, lower CE and less LICI correlated with less severe tics. We found that SMA GABA modulation of right, but not left, M1 CE and LICI differed in TS. We conclude that in young children with TS, lower right M1 CE and LICI, modulated by SMA GABA, may reflect compensatory mechanisms to diminish tics in response to premonitory urges.


Asunto(s)
Corteza Motora , Tics , Síndrome de Tourette , Humanos , Niño , Preescolar , Tics/complicaciones , Síndrome de Tourette/complicaciones , Inhibición Psicológica , Ácido gamma-Aminobutírico
15.
Neurol Sci ; 45(3): 941-962, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37962703

RESUMEN

Tourette's syndrome (TS) is a neuropsychiatric disease featuring tics and vocal tics, with a prevalence of approximately 1%, including 75% of the total number of male patients. TS seriously disturbs the patients' career, education, and life and brings a serious and unbearable psychological burden to the patients themselves and their families. At present, there are no specific clinical medications recommended for treating TS. Therefore, it is necessary to select the appropriate medication for symptomatic treatment based on the doctor's personal experience and the patient's symptoms, with the main goal of relieving symptoms, thus improving the patient's social skills and psychological problems. Here we conducted a comprehensive search on PubMed to review and organize the history and current status of the development of drug therapy for TS through a timeline format. We also systematically evaluated the effects of each drug for TS treatment to summarize the current problems and new research directions and to provide some ideas for clinical treatment.


Asunto(s)
Trastornos de Tic , Tics , Síndrome de Tourette , Humanos , Masculino , Síndrome de Tourette/tratamiento farmacológico , Síndrome de Tourette/diagnóstico , Tics/tratamiento farmacológico
16.
Neurol Sci ; 45(2): 477-483, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37775616

RESUMEN

BACKGROUND: Tics and stereotypies are childhood-onset repetitive behaviours that can pose significant diagnostic challenges in clinical practice. Both tics and stereotypies are characterised by a complex co-morbidity profile, however little is known about the co-occurrence of these hyperkinetic disorders in the same patient population. OBJECTIVE: This review aimed to assess the relationship between tics and stereotypies when these conditions present in co-morbidity. METHODS: We conducted a systematic literature review of original studies on co-morbid tics and stereotypies, according to the standards outlined in the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. RESULTS: Our literature search identified six studies of suitable sample size (n ≥ 40) presenting data on the association between tics and stereotypies in otherwise typically developing patients. A considerable proportion (23%) of patients diagnosed with stereotypic movement disorder present with co-morbid tics (range 18-43%). Likewise, the prevalence of primary stereotypies is increased in patients with tic disorders such as Tourette syndrome (8%, range 6-12%). DISCUSSION: Tics and stereotypies can often develop in co-morbidity. The association of tics and stereotypies in the same patient has practical implications, in consideration of the different treatment approaches. Future research should focus on the assessment and management of both conditions, particularly in special populations (e.g. patients with pervasive developmental disorders).


Asunto(s)
Trastorno de Movimiento Estereotipado , Trastornos de Tic , Tics , Síndrome de Tourette , Niño , Humanos , Comorbilidad , Trastorno de Movimiento Estereotipado/complicaciones , Trastorno de Movimiento Estereotipado/diagnóstico , Trastornos de Tic/complicaciones , Trastornos de Tic/diagnóstico , Síndrome de Tourette/complicaciones , Síndrome de Tourette/diagnóstico
17.
BMC Pediatr ; 24(1): 20, 2024 01 05.
Artículo en Inglés | MEDLINE | ID: mdl-38183026

RESUMEN

BACKGROUND: Allergic rhinitis is the most common allergic disease. It can accompany psychological disorders such as tic disorders due to the prolonged course of the symptoms of allergic rhinitis. This pioneer case-control study aims to investigate tic disorders in children and adolescents under 18 years of age diagnosed with allergic rhinitis. METHOD: The case group in this study consisted of patients who had both allergic rhinitis and tic disorders. Patients with allergic rhinitis without tic disorders were also enrolled as the control group with matched gender and age. Demographic characteristics, tic classifications, and contributing factors for allergic rhinitis and tic disorders were studied among the cases. Tic disorders were evaluated using DSM-5 criteria for the classification of tic disorders. RESULTS: 47 patients in the case group and 47 patients in the control group were included in this study. 53.2% and 46.8% were males and females in the case group, respectively. The mean age of the patients was 10.46 ± 3.97 years old. Sound tics were more common among the patients compared to motor tics. Patients with concomitant AR and tic disorders had more days per week with AR symptoms (P-value ≤ 0.001; OR (every day vs. three days a week = 11.02(2.98, 40.76))). Most patients with sound tick were women (p: 0.026), and most patients with motion tic were in the Provisional tic disorder group (p: 0.001). The history of infantile eczema was seen more in patients without sound tic (p: 0.025), and otitis media was significantly less common among patients with sound tics (p: 0.026). Provisional tic disorder was the most common class among the patients. In the case group (coexistence between allergic rhinitis and tic) compared to the control group, patients had significantly more days with AR symptoms per week. CONCLUSION: This preliminary study indicates that Provisional tic disorder was the most common classification of tic among patients with allergic rhinitis, especially in patients with motor tics. Asthma in motor tics, a history of food allergy in infancy, and a history of infantile eczema were also common among patients with vocal tics. Also, patients with allergic rhinitis and tic had more severe disease (more symptoms per week) than those with rhinitis alone. These findings emphasize the association of tic disorders with immunological pathways.


Asunto(s)
Dermatitis Atópica , Rinitis Alérgica , Trastornos de Tic , Tics , Niño , Masculino , Humanos , Adolescente , Femenino , Estudios de Casos y Controles , Rinitis Alérgica/complicaciones , Trastornos de Tic/complicaciones
18.
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
19.
Hum Brain Mapp ; 44(11): 4225-4238, 2023 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-37232486

RESUMEN

Tourette syndrome (TS) is a neuropsychiatric disorder characterized by motor and phonic tics, which several different theories, such as basal ganglia-thalamo-cortical loop dysfunction and amygdala hypersensitivity, have sought to explain. Previous research has shown dynamic changes in the brain prior to tic onset leading to tics, and this study aims to investigate the contribution of network dynamics to them. For this, we have employed three methods of functional connectivity to resting-state fMRI data - namely the static, the sliding window dynamic and the ICA based estimated dynamic; followed by an examination of the static and dynamic network topological properties. A leave-one-out (LOO-) validated regression model with LASSO regularization was used to identify the key predictors. The relevant predictors pointed to dysfunction of the primary motor cortex, the prefrontal-basal ganglia loop and amygdala-mediated visual social processing network. This is in line with a recently proposed social decision-making dysfunction hypothesis, opening new horizons in understanding tic pathophysiology.


Asunto(s)
Tics , Síndrome de Tourette , Humanos , Tics/diagnóstico por imagen , Síndrome de Tourette/diagnóstico por imagen , Imagen por Resonancia Magnética , Encéfalo/diagnóstico por imagen , Ganglios Basales
20.
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
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