Automated Video-Based Approach for the Diagnosis of Tourette Syndrome.

BACKGROUND: The occurrence of tics is the main basis for the diagnosis of Gilles de la Tourette syndrome (GTS). Video-based tic assessments are time consuming. OBJECTIVE: The aim was to assess the potential of automated video-based tic detection for discriminating between videos of adults with GTS and healthy control (HC) participants. METHODS: The quantity and temporal structure of automatically detected tics/extra movements in videos from adults with GTS (107 videos from 42 participants) and matched HCs were used to classify videos using cross-validated logistic regression. RESULTS: Videos were classified with high accuracy both from the quantity of tics (balanced accuracy of 87.9%) and the number of tic clusters (90.2%). Logistic regression prediction probability provides a graded measure of diagnostic confidence. Expert review of about 25% of lower-confidence predictions could ensure an overall classification accuracy above 95%. CONCLUSIONS: Automated video-based methods have a great potential to support quantitative assessment and clinical decision-making in tic disorders.

Perception-Action Integration Is Altered in Functional Movement Disorders.

BACKGROUND: Although functional neurological movement disorders (FMD) are characterized by motor symptoms, sensory processing has also been shown to be disturbed. However, how the integration of perception and motor processes, essential for the control of goal-directed behavior, is altered in patients with FMD is less clear. A detailed investigation of these processes is crucial to foster a better understanding of the pathophysiology of FMD and can systematically be achieved in the framework of the theory of event coding (TEC). OBJECTIVE: The aim was to investigate perception-action integration processes on a behavioral and neurophysiological level in patients with FMD. METHODS: A total of 21 patients and 21 controls were investigated with a TEC-related task, including concomitant electroencephalogram (EEG) recording. We focused on EEG correlates established to reflect perception-action integration processes. Temporal decomposition allowed to distinguish between EEG codes reflecting sensory (S-cluster), motor (R-cluster), and integrated sensory-motor processing (C-cluster). We also applied source localization analyses. RESULTS: Behaviorally, patients revealed stronger binding between perception and action, as evidenced by difficulties in reconfiguring previously established stimulus-response associations. Such hyperbinding was paralleled by a modulation of neuronal activity clusters, including reduced C-cluster modulations of the inferior parietal cortex and altered R-cluster modulations in the inferior frontal gyrus. Correlations of these modulations with symptom severity were also evident. CONCLUSIONS: Our study shows that FMD is characterized by altered integration of sensory information with motor processes. Relations between clinical severity and both behavioral performance and neurophysiological abnormalities indicate that perception-action integration processes are central and a promising concept for the understanding of FMD. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

The Role of the Left Inferior Parietal Cortex in Gilles de la Tourette Syndrome-An rTMS Study.

Increased activity in the left inferior parietal cortex (BA40) plays a role in the generation of tics in the Gilles de la Tourette syndrome (GTS). Thus, inhibitory repetitive transcranial magnetic stimulation (rTMS) applied to BA40 was hypothesized to alleviate symptoms in GTS. We investigated the immediate effects of single-session 1 Hz rTMS and sham stimulation delivered to the left BA40 on tics assessed with the Rush video protocol in 29 adults with GTS. There were no significant effects on tic symptoms following rTMS or sham stimulation. Moreover, there was no difference when comparing the effects of both stimulation conditions. Bayesian statistics indicated substantial evidence against an intervention effect. The left BA40 appears not to be a useful target for 1 Hz rTMS to modulate tic symptoms in GTS patients.

Motor outcomes congruent with intentions may sharpen metacognitive representations.

We can monitor our intentional movements and form explicit representations about our movements, allowing us to describe how we move our bodies. But it is unclear which information this metacognitive monitoring relies on. For example, when throwing a ball to hit a target, we might use the visual information about how the ball flew to metacognitively assess our performance. Alternatively, we might disregard the ball trajectory - given that it is not directly relevant to our goal - and metacognitively assess our performance based solely on whether we reached the goal of hitting the target. In two experiments we aimed to distinguish between these two alternatives and asked whether the distal outcome of a goal-directed action (hitting or missing a target) informs the metacognitive representations of our own movements. Participants performed a semi-virtual task where they moved their arm to throw a virtual ball at a target. After each throw, participants discriminated which of two ball trajectories displayed on the screen corresponded to the flight path of their throw and then rated their confidence in this decision. The task included two conditions that differed on whether the distal outcome of the two trajectories shown matched (congruent) or differed (incongruent). Participants were significantly more accurate in discriminating between the two trajectories, and responded faster in the incongruent condition and, accordingly, were significantly more confident on these trials. Crucially, we found significant differences in metacognitive performance (measured as meta-d'/d') between the two conditions only on successful trials, where the virtual ball had hit the target. These results indicate that participants successfully incorporated information about the outcome of the movement into both their discrimination and confidence responses. However, information about the outcome selectively sharpened the precision of confidence ratings only when the outcome of their throw matched their intention. We argue that these findings underline the separation between the different levels of information that may contribute to body monitoring, and we provide evidence that intentions might play a central role in metacognitive motor representations.

Impaired Metacognition of Voluntary Movement in Functional Movement Disorder.

BACKGROUND: Motor symptoms in functional movement disorders (FMDs) are experienced as involuntary but share characteristics of voluntary action. Clinical and experimental evidence indicate alterations in monitoring, control, and subjective experience of self-performed movements. OBJECTIVE: The objective of this study was to test the prediction that FMDs are associated with a reduced ability to make accurate (metacognitive) judgments about self-performed movements. METHODS: We compared 24 patients with FMD (including functional gait disturbance, functional tremor, and functional tics) with 24 age- and sex-matched healthy control subjects in a novel visuomotor-metacognitive paradigm. Participants performed target-directed movements on a graphics tablet with restricted visual feedback, decided which of two visually presented trajectories was closer to their preceding movement, and reported their confidence in the visuomotor decision. We quantified individual metacognitive performance as participants' ability to assign high confidence preferentially to correct visuomotor decisions. RESULTS: Patients and control subjects showed comparable motor performance, response accuracy, and use of the confidence scale. However, visuomotor sensitivity in the trajectory judgment was reduced in patients with FMD compared with healthy control subjects. Moreover, metacognitive performance was impaired in patients, that is, their confidence ratings were less predictive of the correctness of visuomotor decisions. Exploratory subgroup analyses suggest metacognitive deficits to be most pronounced in patients with a functional gait disturbance or functional tremor. CONCLUSIONS: Patients with FMD exhibited deficits both when making visuomotor decisions about their own movements and in the metacognitive evaluation of these decisions. Reduced metacognitive insight into voluntary motor control may play a role in FMD pathophysiology and could lay the groundwork for new treatment strategies. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Enhancing neuroimaging genetics through meta-analysis for Tourette syndrome (ENIGMA-TS): A worldwide platform for collaboration.

Tourette syndrome (TS) is characterized by multiple motor and vocal tics, and high-comorbidity rates with other neuropsychiatric disorders. Obsessive compulsive disorder (OCD), attention deficit hyperactivity disorder (ADHD), autism spectrum disorders (ASDs), major depressive disorder (MDD), and anxiety disorders (AXDs) are among the most prevalent TS comorbidities. To date, studies on TS brain structure and function have been limited in size with efforts mostly fragmented. This leads to low-statistical power, discordant results due to differences in approaches, and hinders the ability to stratify patients according to clinical parameters and investigate comorbidity patterns. Here, we present the scientific premise, perspectives, and key goals that have motivated the establishment of the Enhancing Neuroimaging Genetics through Meta-Analysis for TS (ENIGMA-TS) working group. The ENIGMA-TS working group is an international collaborative effort bringing together a large network of investigators who aim to understand brain structure and function in TS and dissect the underlying neurobiology that leads to observed comorbidity patterns and clinical heterogeneity. Previously collected TS neuroimaging data will be analyzed jointly and integrated with TS genomic data, as well as equivalently large and already existing studies of highly comorbid OCD, ADHD, ASD, MDD, and AXD. Our work highlights the power of collaborative efforts and transdiagnostic approaches, and points to the existence of different TS subtypes. ENIGMA-TS will offer large-scale, high-powered studies that will lead to important insights toward understanding brain structure and function and genetic effects in TS and related disorders, and the identification of biomarkers that could help inform improved clinical practice.

Urge-tic associations in children and adolescents with Tourette syndrome.

Premonitory urges preceding tics are a cardinal feature of Gilles de la Tourette syndrome (GTS), a developmental disorder usually starting during middle childhood. However, the temporal relation between urges and tics has only been investigated in adults. In 25 children and adolescents with GTS (8-18 years), we assess urge-tic associations, including inter-individual differences, correlation to clinical measures, and in comparison to a previously reported sample of adult GTS patients. Group-level analyses confirmed positive associations between urges and tics. However, at the individual level, less than half of participants showed positive associations, a similar proportion did not, and in two participants, the association was reversed. Tic expression and subjective urge levels correlated with corresponding clinical scores and participants with more severe tics during the urge monitor exhibited stronger urge-tic associations. Associations between reported urge levels and instantaneous tic intensity tended to be less pronounced in children and adolescents than in adult GTS patients. The observed heterogeneity of urge-tic associations cast doubt on the notion that tics are directly caused by urges. More severe tics may facilitate anticipation of tics and thereby lead to more pronounced urge-tic associations, consistent with a hypothesis of urges as a byproduct of tics.

Time estimation and arousal responses in dopa-responsive dystonia.

Dopa-responsive dystonia (DRD) is caused by an impaired dopamine biosynthesis due to a GTP-cyclohydrolase-1 (GCH1) deficiency, resulting in a combination of dystonia and parkinsonism. However, the effect of GCH1 mutations and levodopa treatment on motor control beyond simple movements, such as timing, action preparation and feedback processing, have not been investigated so far. In an active time estimation task with trial-by-trial feedback, participants indicated a target interval (1200 ms) by a motor response. We compared 12 patients tested (in fixed order) under their current levodopa medication ("ON") and after levodopa withdrawal ("OFF") to matched healthy controls (HC), measured twice to control for repetition effects. We assessed time estimation accuracy, trial-to-trial adjustment, as well as task- and feedback-related pupil-linked arousal responses. Patients showed comparable time estimation accuracy ON medication as HC but reduced performance OFF medication. Task-related pupil responses showed the reverse pattern. Trial-to-trial adjustments of response times were reduced in DRD, particularly OFF medication. Our results indicate differential alterations of time estimation accuracy and task-related arousal dynamics in DRD patients as a function of dopaminergic medication state. A medication-independent alteration of task repetition effects in DRD cannot be ruled out with certainty but is discussed as less likely.

Do I look like I'm sure?: Partial metacognitive access to the low-level aspects of one's own facial expressions.

As humans we communicate important information through fine nuances in our facial expressions, but because conscious motor representations are noisy, we might not be able to report these fine movements. Here we measured the precision of the explicit metacognitive information that young adults have about their own facial expressions. Participants imitated pictures of themselves making facial expressions and triggered a camera to take a picture of them while doing so. They then rated how well they thought they imitated each expression. We defined metacognitive access to facial expressions as the relationship between objective performance (how well the two pictures matched) and subjective performance ratings. As a group, participants' metacognitive confidence ratings were only about four times less precise than their own similarity ratings. In turn, machine learning analyses revealed that participants' performance ratings were based on idiosyncratic subsets of features. We conclude that metacognitive access to one's own facial expressions is only partial.

Pandemic Tic-like Behaviors Following Social Media Consumption.

BACKGROUND: Currently, there is a marked increase of young people with sudden onset of tic-like behaviors (TLBs) resembling movements and vocalizations presented on social media videos as "Tourette's syndrome." OBJECTIVE: To delineate clinical phenomenology of TLBs after social media exposure in comparison with clinical features of Tourette's syndrome. METHODS: We compared demographic and clinical variables between 13 patients with TLBs and 13 age- and sex-related patients with Tourette's syndrome. RESULTS: Patients with TLBs had several characteristics allowing to distinguish them from patients with Tourette's syndrome, some of which discriminated perfectly (ie, abrupt symptom onset, lack of spontaneous symptom fluctuations, symptom deterioration in the presence of others) and some nearly perfectly (ie, predominantly complex movements involving trunk/extremities). Also, symptom onset was significantly later. CONCLUSIONS: TLBs after social media consumption differ from tics in Tourette's syndrome, strongly suggesting that these phenomena are categorically different conditions. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Inter-individual differences in urge-tic associations in Tourette syndrome.

Premonitory urges are a cardinal feature in Tourette syndrome (GTS) and are commonly viewed as a driving force of tics. However, inter-individual differences in experimentally measured urges, tics and urge-tic associations, as well as possible relations to clinical characteristics and abnormal perception-action processing recently demonstrated in these patients have not been investigated in detail. Here, we analyze the temporal associations between urges and tics in 21 adult patients with GTS including inter-individual differences and the relation of such associations with clinical measures and experimentally tested perception-action coupling. At the group level, our results confirm known positive associations between subjective urges and tics, with increased tic frequency and tic intensity during periods of elevated urge. Inter-individual differences in the associations between urges and tics were, however, substantial. While most participants (57-66 % depending on the specific measure) showed positive associations as expected, several participants did not, and two even had negative associations with tic occurrence and intensity being reduced at times of increased urges. Subjective urge levels and tic occurrence correlated with corresponding clinical scores, providing converging evidence. Measures of the strength of urge-tic associations did not correlate with clinical measures nor the strength of perception-action coupling. Taken together, urge-tic associations in GTS are complex and heterogenous, casting doubt on the notion that tics are primarily driven by urges.

Somatosensory perception-action binding in Tourette syndrome.

It is a common phenomenon that somatosensory sensations can trigger actions to alleviate experienced tension. Such "urges" are particularly relevant in patients with Gilles de la Tourette (GTS) syndrome since they often precede tics, the cardinal feature of this common neurodevelopmental disorder. Altered sensorimotor integration processes in GTS as well as evidence for increased binding of stimulus- and response-related features ("hyper-binding") in the visual domain suggest enhanced perception-action binding also in the somatosensory modality. In the current study, the Theory of Event Coding (TEC) was used as an overarching cognitive framework to examine somatosensory-motor binding. For this purpose, a somatosensory-motor version of a task measuring stimulus-response binding (S-R task) was tested using electro-tactile stimuli. Contrary to the main hypothesis, there were no group differences in binding effects between GTS patients and healthy controls in the somatosensory-motor paradigm. Behavioral data did not indicate differences in binding between examined groups. These data can be interpreted such that a compensatory "downregulation" of increased somatosensory stimulus saliency, e.g., due to the occurrence of somatosensory urges and hypersensitivity to external stimuli, results in reduced binding with associated motor output, which brings binding to a "normal" level. Therefore, "hyper-binding" in GTS seems to be modality-specific.

Motor learning deficits in cervical dystonia point to defective basal ganglia circuitry.

Dystonia is conceptualized as a network disorder involving basal ganglia, thalamus, sensorimotor cortex and the cerebellum. The cerebellum has been implicated in dystonia pathophysiology, but studies testing cerebellar function in dystonia patients have provided equivocal results. This study aimed to further elucidate motor network deficits in cervical dystonia with special interest in the role of the cerebellum. To this end we investigated motor learning tasks, that differ in their dependence on cerebellar and basal ganglia functioning. In 18 cervical dystonia patients and 18 age matched healthy controls we measured implicit motor sequence learning using a 12-item serial reaction time task mostly targeting basal ganglia circuitry and motor adaptation and eyeblink conditioning as markers of cerebellar functioning. ANOVA showed that motor sequence learning was overall impaired in cervical dystonia (p = 0.01). Moreover, unlike healthy controls, patients did not show a learning effect in the first part of the experiment. Visuomotor adaptation and eyeblink conditioning were normal. In conclusion, these data lend support to the notion that motor learning deficits in cervical dystonia relate to basal ganglia-thalamo-cortical loops rather than being a result of defective cerebellar circuitry.

Measuring metacognition of direct and indirect parameters of voluntary movement.

We can make exquisitely precise movements without the apparent need for conscious monitoring. But can we monitor the low-level movement parameters when prompted? And what are the mechanisms that allow us to monitor our movements? To answer these questions, we designed a semivirtual ball throwing task. On each trial, participants first threw a virtual ball by moving their arm (with or without visual feedback, or replayed from a previous trial) and then made a two-alternative forced choice on the resulting ball trajectory. They then rated their confidence in their decision. We measured metacognitive efficiency using meta-d'/d' and compared it between different informational domains of the first-order task (motor, visuomotor or visual information alone), as well as between two different versions of the task based on different parameters of the movement: proximal (position of the arm) or distal (resulting trajectory of the ball thrown). We found that participants were able to monitor their performance based on distal motor information as well as when proximal information was available. Their metacognitive efficiency was also equally high in conditions with different sources of information available. The analysis of correlations across participants revealed an unexpected result: While metacognitive efficiency correlated between informational domains (which would indicate domain-generality of metacognition), it did not correlate across the different parameters of movement. We discuss possible sources of this discrepancy and argue that specific first-order task demands may play a crucial role in our metacognitive ability and should be considered when making inferences about domain-generality based on correlations. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

Tourette syndrome as a motor disorder revisited - Evidence from action coding.

Because tics are the defining clinical feature of Tourette syndrome, it is conceptualized predominantly as a motor disorder. There is some evidence though suggesting that the neural basis of Tourette syndrome is related to perception-action processing and binding between perception and action. However, binding processes have not been examined in the motor domain in these patients. If it is particularly perception-action binding but not binding processes within the motor system, this would further corroborate that Tourette syndrome it is not predominantly, or solely, a motor disorder. Here, we studied N = 22 Tourette patients and N = 24 healthy controls using an established action coding paradigm derived from the Theory of Event Coding framework and concomitant EEG-recording addressing binding between a planned but postponed, and an interleaved immediate reaction with different levels of overlap of action elements. Behavioral performance during interleaved action coding was normal in Tourette syndrome. Response locked lateralized readiness potentials reflecting processes related to motor execution were larger in Tourette syndrome, but only in simple conditions. However, pre-motor processes including response preparation and configuration reflected by stimulus-locked lateralized readiness potentials were normal. This was supported by a Bayesian data analysis providing evidence for the null hypothesis. The finding that processes integrating different action-related elements prior to motor execution are normal in Tourette syndrome suggests that Tourette it is not solely a motor disorder. Considering other recent evidence, the data show that changes in "binding" in Tourette syndrome are specific for perception-action integration but not for action coding.

Pseudo-hyperscanning shows common neural activity during face-to-face communication of affect to be associated with shared affective feelings but not with mere emotion recognition.

Current theories in cognitive neuroscience assume that internal simulation, i.e., the reproduction of brain activity underlying another person's inner state and behaviour in the perceiver's brain, plays an important role in understanding others. Here we test the prediction that common neural activity during facial communication of affect leads to interpersonal understanding. Six female senders and 30 male observers (six of which were the senders romantic partners and 24 unknown others) underwent pseudo-hyperscanning fMRI (functional magnetic resonance imaging). Senders were asked to submerge themselves into emotional situations and to facially express their emotional feelings as they arose to the observer. Observers were uninformed about the sender's task and were asked to watch and feel with the sender. Using between-brain spatial correlation analysis we found that mere emotion recognition was not closely related to the degree to which an observer reproduced the sender's spatial pattern of neural activity in his own brain. However, in runs in which the observer had correctly identified the communicated emotion, between-brain similarity of spatial patterns of neural activity predicted the degree to which the observer experienced a similar emotional feeling as the sender. This effect remained significant when differences between romantic partners and unknown others and sender effects were removed. These findings are in line with previous studies that suggest that facial emotion recognition, at least at a coarse level, might be supported by neural processes that do not rely on internal simulation. Shared affective experiences, on the other hand, might arise from common neural activity between the sender's and the observer's brain, leading to a "shared space of affect" which might be critical for the flow of more subtle affective information between brains.

Neurophysiological correlates of perception-action binding in the somatosensory system.

Action control requires precisely and flexibly linking sensory input and motor output. This is true for both, visuo-motor and somatosensory-motor integration. However, while perception-action integration has been extensively investigated for the visual modality, data on how somatosensory and action-related information is associated are scarce. We use the Theory of Event Coding (TEC) as a framework to investigate perception-action integration in the somatosensory-motor domain. Based on studies examining the neural mechanisms underlying stimulus-response binding in the visuo-motor domain, the current study investigates binding mechanisms in the somatosensory-motor domain using EEG signal decomposition and source localization analyses. The present study clearly demonstrates binding between somatosensory stimulus and response features. Importantly, repetition benefits but no repetition costs are evident in the somatosensory modality, which differs from findings in the visual domain. EEG signal decomposition indicates that response selection mechanisms, rather than stimulus-related processes, account for the behavioral binding effects. This modulation is associated with activation differences in the left superior parietal cortex (BA 7), an important relay of sensorimotor integration.

Increased perception-action binding in Tourette syndrome.

Gilles de la Tourette syndrome is a multifaceted neurodevelopmental disorder characterized by multiple motor and vocal tics. Research in Tourette syndrome has traditionally focused on the motor system. However, there is increasing evidence that perceptual and cognitive processes play a crucial role as well. Against this background it has been reasoned that processes linking perception and action might be particularly affected in these patients with the strength of perception-action binding being increased. However, this has not yet been studied experimentally. Here, we investigated adult Tourette patients within the framework of the 'Theory of Event Coding' using an experimental approach allowing us to directly test the strength of perception-action binding. We included 24 adult patients with Tourette syndrome and n = 24 healthy control subjects using a previously established visual-motor event file task with four levels of feature overlap requiring repeating or alternating responses. Concomitant to behavioural testing, EEG was recorded and analysed using temporal signal decomposition and source localization methods. On a behavioural level, perception-action binding was increased in Tourette patients. Tic frequency correlated with performance in conditions where unbinding processes of previously established perception-action bindings were required with higher tic frequency being associated with stronger perception-action binding. This suggests that perception-action binding is intimately related to the occurrence of tics. Analysis of EEG data showed that behavioural changes cannot be explained based on simple perceptual or motor processes. Instead, cognitive processes linking perception to action in inferior parietal cortices are crucial. Our findings suggest that motor or sensory processes alone are less relevant for the understanding of Tourette syndrome than cognitive processes engaged in linking and restructuring of perception-action association. A broader cognitive framework encompassing perception and action appears well suited to opening new routes for the understanding of Tourette syndrome.

Quality and temporal properties of premonitory urges in patients with skin picking disorder.

Skin picking is a newly recognized obsessive-compulsive spectrum disorder in DSM-5. Similar to some repetitive behaviors in Gilles de la Tourette syndrome (GTS) and obsessive-compulsive disorder (OCD), premonitory urges are assumed to play a critical role in maintaining skin picking behavior, by creating a vicious cycle. The present study is the first to investigate the quality of premonitory urges, as well as the temporal relationship between urges and skin picking behavior in individuals with skin picking disorder. Quality and intensity of premonitory urges was assessed in 15 individuals with skin picking. Urge quality was assessed with the translated University of São Paulo Sensory Phenomena Scale (USP-SPS). Urge intensity was assessed continuously over 20 min using a computer-based tool. Participants were instructed either a) to pick freely or b) to suppress their skin picking behavior. Skin picking events during the free and suppression condition were recorded on video and coded manually. Regarding the types of urges, individuals with skin picking reported mainly physical urge sensations (80%), visual "just-right" feelings (80%), and urge-only sensations (80%) similar to urges reported by GTS and OCD patients. Moreover, the data showed a strong temporal relationship between the intensity of premonitory urges and the emergence of skin picking behavior (R2 = .23) that was weakened when skin picking was suppressed (R2 = .06). The results suggest that skin picking behavior is maintained by premonitory urges and that this vicious cycle of negative reinforcement can be, at least partially, broken by suppressing skin picking behavior.