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Critical Care (London, England) May 2024Critically injured patients need rapid and appropriate hemostatic treatment, which requires prompt identification of trauma-induced coagulopathy (TIC) upon hospital...
BACKGROUND
Critically injured patients need rapid and appropriate hemostatic treatment, which requires prompt identification of trauma-induced coagulopathy (TIC) upon hospital admission. We developed and validated the performance of a clinical score based on prehospital resuscitation parameters and vital signs at hospital admission for early diagnosis of TIC.
METHODS
The score was derived from a level-1 trauma center registry (training set). It was then validated on data from two other level-1 trauma centers: first on a trauma registry (retrospective validation set), and then on a prospective cohort (prospective validation set). TIC was defined as a PT > 1.2 at hospital admission. Prehospital (vital signs and resuscitation care) and admission data (vital signs and laboratory parameters) were collected. We considered parameters independently associated with TIC in the score (binomial logistic regression). We estimated the score's performance for the prediction of TIC.
RESULTS
A total of 3489 patients were included, and among these a TIC was observed in 22% (95% CI 21-24%) of cases. Five criteria were identified and included in the TIC Score: Glasgow coma scale < 9, Shock Index > 0.9, hemoglobin < 11 g.dL, prehospital fluid volume > 1000 ml, and prehospital use of norepinephrine (yes/no). The score, ranging from 0 and 9 points, had good performance for the identification of TIC (AUC: 0.82, 95% CI: 0.81-0.84) without differences between the three sets used. A score value < 2 had a negative predictive value of 93% and was selected to rule-out TIC. Conversely, a score value ≥ 6 had a positive predictive value of 92% and was selected to indicate TIC.
CONCLUSION
The TIC Score is quick and easy to calculate and can accurately identify patients with TIC upon hospital admission.
Topics: Humans; Female; Male; Adult; Middle Aged; Blood Coagulation Disorders; Cohort Studies; Prospective Studies; Early Diagnosis; Wounds and Injuries; Retrospective Studies; Registries; Aged; Hospitalization
PubMed: 38762746
DOI: 10.1186/s13054-024-04955-7 -
BMC Pediatrics May 2024The Premonitory Urge for Tics Scale (PUTS) is a common self-report measure of premonitory urges for patients with tic disorders. This study aims to evaluate the Chinese...
BACKGROUND
The Premonitory Urge for Tics Scale (PUTS) is a common self-report measure of premonitory urges for patients with tic disorders. This study aims to evaluate the Chinese version of the PUTS (PUTS-C) and to explore its association with psychiatric symptoms in Chinese children diagnosed with tic disorders.
METHODS
The psychometric evaluation involved 204 outpatients with tic disorders, aged 7-16 years, who were divided into two age groups: (7-10 years, n = 103; 11-16 years, n = 95).
RESULTS
The PUTS-C demonstrated good internal consistency (McDonald'sω = 0.84) and two-week test-retest reliability (0.76). We observed a statistically significant correlation between the total PUTS-C score and various Yale Global Tic Severity Scale (YGTSS) subscales and total tic severity scores. The PUTS-C score also showed significant correlations with the Children Yale-Brown Obsessive Compulsive Scale (CY-BOCS), Screening Child Anxiety-Related Emotional Disorders (SCARED), and Children's Depression Inventory (CDI). Notably, premonitory urges independently predicted tic severity, beyond the influence of comorbid symptoms. A two-factor structure of the PUTS-C was identified in the total sample through factor analysis.
CONCLUSIONS
The PUTS-C possesses acceptable validity and good reliability. It appears that premonitory urges in Chinese patients with tic disorders are associated with obsessive-compulsive symptoms, anxiety, and depression, but can independently predict tic severity. Specific PUTS-C factors possibly related to motor and vocal tics. Future research should continue to investigate age-related differences and the association with tics and other sensory symptoms.
Topics: Humans; Child; Tic Disorders; Male; Adolescent; Female; Psychometrics; Reproducibility of Results; China; Psychiatric Status Rating Scales; Severity of Illness Index; Self Report
PubMed: 38755560
DOI: 10.1186/s12887-024-04801-3 -
Frontiers in Psychology 2024Persistent Tic Disorders such as Tourette Syndrome are common neurodevelopmental disorders that are highly stigmatized. Many individuals with Persistent Tic Disorders...
INTRODUCTION
Persistent Tic Disorders such as Tourette Syndrome are common neurodevelopmental disorders that are highly stigmatized. Many individuals with Persistent Tic Disorders experience peer rejection, loneliness, and self-stigma. Experiencing stigmatization during childhood can influence the persistence of moderate-to-severe tics later in life. Additionally, these factors have been associated with increased suicidal ideation, suicide attempts, and psychiatric symptom severity. There is a need for interventions to reduce stigma and stigmatization in Persistent Tic Disorders. Before developing cost-effective interventions to mitigate stigma's profound downstream health impacts, a reliable measure of stigmatization must be created. The overarching goal of this research is to develop and validate the Tourette Discrimination-Stigmatization (TD-STIGMA) Scale.
METHODS
This paper presents the study protocol for developing and validating the TD-STIGMA Scale. The study is designed as a mixed methods study to develop the TD-STIGMA scale and evaluate its psychometric properties. The study uses a phased approach: (1) collection of narrative and thematic content data through in-depth qualitative interviews of stakeholders, (2) development of a novel TD-STIGMA self-report scale using the Delphi Method based on these results, and (3) completion of analyses to determine the scale's psychometric properties (confirmatory factor analysis, convergent, known-group, criterion validity, and test-retest reliability).
DISCUSSION
This project will result in a personalized approach to stigma measurement about youth and young adults with Persistent Tic Disorders, which to date does not exist. There are several limitations. Comorbidities or spiritual or cultural beliefs may affect perceptions of stigma and are not directly assessed in this study. We will utilize institutional resources for community outreach to purposefully sample underrepresented minorities who may be at disproportionate risk of adverse outcomes. However, this may not be fully representative of the generalized tic population. The study team will be purposeful in maintaining participant engagement for study retention. Lastly, participants from a tertiary referral center may not fully represent the generalized tic community. However, we hope our broad recruitment strategy and virtual study visits will facilitate a diverse and inclusive sampling of the patient population.
PubMed: 38746922
DOI: 10.3389/fpsyg.2024.1381063 -
ENeuro May 2024Tic disorders (TD) are characterized by the presence of motor and/or vocal tics. Common neurophysiological frameworks suggest dysregulations of the...
Tic disorders (TD) are characterized by the presence of motor and/or vocal tics. Common neurophysiological frameworks suggest dysregulations of the cortico-striatal-thalamo-cortical (CSTC) brain circuit that controls movement execution. Besides the common tics, there are other "non-tic" symptoms that are primarily related to sensory perception, sensorimotor integration, attention, and social cognition. The existence of these symptoms, the sensory tic triggers and the modifying effect of attention and cognitive control mechanisms on tics may indicate the salience network's involvement in the neurophysiology of TD. Resting-state functional MRI measurements were performed in 26 participants with TD and 25 healthy controls. The group differences in resting-state functional connectivity patterns were measured based on seed-to-voxel connectivity analyses. Compared to healthy controls, patients with TD exhibited altered connectivity between the core regions of the salience network (insula, ACC and TPJ) and sensory, associative, and motor-related cortices. Furthermore, connectivity changes were observed in relation to the severity of tics in the TD group. The salience network, particularly the insula, is likely to be an important site of dysregulation in TD. Our results provide evidence for large-scale neural deviations in TD beyond the CSTC pathologies. These findings may be relevant for developing treatment targets. Tic disorders (TD) are associated with a variety of symptoms beyond typical motor and vocal tics that affect sensory perception, attention, and social cognition. The presence of such non-tic symptoms suggests the potential involvement of the salience network in the pathophysiology of TD. While previous studies have predominantly focused on the cortico-striato-thalamo-cortical (CSTC) circuitry, which is known to underlie tic generation and expression, we conducted resting-state fMRI to investigate the functional connectivity of the salience network in TD. Notably, we observed impaired connectivity of the salience network with relations to the tic symptom severity. Our research provided important evidence that the pathophysiology of TD involves the salience network, which is highly relevant for developing treatment strategies.
PubMed: 38744491
DOI: 10.1523/ENEURO.0223-23.2024 -
Journal of Clinical Medicine Apr 2024: Tourette syndrome (TS) and Chronic Tic Disorder (CT) are neurodevelopmental conditions involving motor and/or phonic tics. Youth with tics may encounter feelings of...
: Tourette syndrome (TS) and Chronic Tic Disorder (CT) are neurodevelopmental conditions involving motor and/or phonic tics. Youth with tics may encounter feelings of isolation, diminished self-esteem and quality of life, and academic difficulties. A growing body of scientific literature suggests sex differences in youth with tics, but findings have been mixed so far. Because symptom severity peaks around puberty, understanding sex differences in tic manifestations and associated symptoms during this critical period is essential. Therefore, we aimed to assess sex differences related to tic symptoms, action planning styles, quality of life, and externalizing/internalizing symptoms in youth with tics. : Our sample consisted of 66 youths with tics (19 girls) aged 7-14 (mean = 10 years). Youths were assessed with clinical interviews, as well as self- and parent-reported inventories evaluating tic symptoms, psychological profiles, and quality of life. : While no differences in tic symptoms were found, girls exhibited lower functional inflexibility, reduced overall functional planning effectiveness, and higher impairment in the psychological well-being subscale than boys. Additionally, girls had reduced general life satisfaction and social self-esteem. Boys reported more explosive outbursts, higher levels of hyperactivity, and more difficulties with self-concept. : Our analyses suggested differences in several manifestations associated with tics. This introduces new perspectives that refine our understanding of sex differences. A better understanding of sex differences in tic disorders may eventually improve outcomes for all individuals living with these conditions.
PubMed: 38731007
DOI: 10.3390/jcm13092477 -
JAMA Network Open May 2024Behavior therapy is a recommended intervention for Tourette syndrome (TS) and chronic tic disorder (CTD), but availability is limited and long-term effects are uncertain. (Randomized Controlled Trial)
Randomized Controlled Trial
IMPORTANCE
Behavior therapy is a recommended intervention for Tourette syndrome (TS) and chronic tic disorder (CTD), but availability is limited and long-term effects are uncertain.
OBJECTIVE
To investigate the long-term efficacy and cost-effectiveness of therapist-supported, internet-delivered exposure and response prevention (ERP) vs psychoeducation for youths with TS or CTD.
DESIGN, SETTING, AND PARTICIPANTS
This 12-month controlled follow-up of a parallel group, superiority randomized clinical trial was conducted at a research clinic in Stockholm, Sweden, with nationwide recruitment. In total, 221 participants aged 9 to 17 years with TS or CTD were enrolled between April 26, 2019, and April 9, 2021, of whom 208 (94%) provided 12-month follow-up data. Final follow-up data were collected on June 29, 2022. Outcome assessors were masked to treatment allocation throughout the study.
INTERVENTIONS
A total of 111 participants were originally randomly allocated to 10 weeks of therapist-supported, internet-delivered ERP and 110 participants to therapist-supported, internet-delivered psychoeducation.
MAIN OUTCOMES AND MEASURES
The primary outcome was within-group change in tic severity, measured by the Total Tic Severity Score of the Yale Global Tic Severity Scale (YGTSS-TTSS), from the 3-month follow-up to the 12-month follow-up. Treatment response was defined as 1 (very much improved) or 2 (much improved) on the Clinical Global Impression-Improvement scale. Analyses were intention-to-treat and followed the plan prespecified in the published study protocol. A health economic evaluation was performed from 3 perspectives: health care organization (including direct costs for treatment provided in the study), health care sector (additionally including health care resource use outside of the study), and societal (additionally including costs beyond health care [eg, parent's absenteeism from work]).
RESULTS
In total, 221 participants were recruited (mean [SD] age, 12.1 [2.3] years; 152 [69%] male). According to the YGTSS-TTSS, there were no statistically significant changes in tic severity from the 3-month to the 12-month follow-up in either group (ERP coefficient, -0.52 [95% CI, -1.26 to 0.21]; P = .16; psychoeducation coefficient, 0.00 [95% CI, -0.78 to 0.78]; P > .99). A secondary analysis including all assessment points (baseline to 12-month follow-up) showed no statistically significant between-group difference in tic severity from baseline to the 12-month follow-up (coefficient, -0.38 [95% CI, -1.11 to 0.35]; P = .30). Treatment response rates were similar in both groups (55% in ERP and 50% in psychoeducation; odds ratio, 1.25 [95% CI, 0.73-2.16]; P = .42) at the 12-month follow-up. The health economic evaluation showed that, from a health care sector perspective, ERP produced more quality-adjusted life years (0.01 [95% CI, -0.01 to 0.03]) and lower costs (adjusted mean difference -$84.48 [95% CI, -$440.20 to $977.60]) than psychoeducation at the 12-month follow-up. From the health care organization and societal perspectives, ERP produced more quality-adjusted life years at higher costs, with 65% to 78% probability of ERP being cost-effective compared with psychoeducation when using a willingness-to-pay threshold of US $79 000.
CONCLUSIONS AND RELEVANCE
There were no statistically significant changes in tic severity from the 3-month through to the 12-month follow-up in either group. The ERP intervention was not superior to psychoeducation at any time point. While ERP was not superior to psychoeducation alone in reducing tic severity at the end of the follow-up period, ERP is recommended for clinical implementation due to its likely cost-effectiveness and support from previous literature.
TRIAL REGISTRATION
ClinicalTrials.gov Identifier: NCT03916055.
Topics: Humans; Tourette Syndrome; Male; Female; Child; Adolescent; Follow-Up Studies; Cost-Benefit Analysis; Internet; Sweden; Treatment Outcome; Internet-Based Intervention; Behavior Therapy
PubMed: 38700867
DOI: 10.1001/jamanetworkopen.2024.8468 -
Psychiatry Investigation Apr 2024To explore the efficacy and safety of clonidine adhesive patch in Tourette syndrome (TS) patients with comorbid attentiondeficit/hyperactivity disorder (ADHD).
OBJECTIVE
To explore the efficacy and safety of clonidine adhesive patch in Tourette syndrome (TS) patients with comorbid attentiondeficit/hyperactivity disorder (ADHD).
METHODS
This study was conducted on a sample of children and adolescents with TS who had comorbid ADHD between May 2012 and March 2015. The patients were diagnosed according to Diagnostic and Statistical Manual of Mental Disorders Fourth Edition, and were randomly assigned to four different dose groups: 1.0 mg/week, 1.5 mg/week, 2.0 mg/week and placebo group, and the symptom was evaluated by Swanson, Nolan, and Pelham Rating Scale, Version IV (SNAP-IV) and Yale Global Tic Severity Scale scales every 2 weeks. The primary outcome was tic disorders (TD) effective rate at week 8.
RESULTS
One hundred and twenty-seven TS patients with comorbid ADHD in 2.0 mg/week (n=35), 1.5 mg/week (n=27), 1.0 mg/week (n=36) and placebo groups (n=29) were included in this subgroup analysis. The TD effective rate of the 2.0 mg, 1.5 mg, and 1.0 mg groups at week 8 were significantly better than that in placebo group (85.7%, 81.5%, and 86.1% vs. 20.7%, all p<0.0001). All groups demonstrated significant improvements in SNAP-IV total scale scores compared to baseline (p=0.0004), with treatment groups showing only a trend for better performance compared to placebo group at week 8, without statistical differences (22.1±15.41, 21.3±11.96, and 21.2±12.48 vs. 26.0±13.37, p=0.3385). A total of 9 adverse reactions occurred, all recovered spontaneously without additional medication.
CONCLUSION
Clonidine adhesive patch could safely and effectively reduce the tic symptoms of TS patients with comorbid ADHD, and might be potentially helpful in the ADHD symptoms control.
PubMed: 38695046
DOI: 10.30773/pi.2023.0262 -
Annals of Medicine and Surgery (2012) May 2024The authors identify two patterns of inheritance in a Syrian child from consanguineous parents. The membrane-bound O-acyltranferase domain-containing7 (MBOAT7) gene...
INTRODUCTION
The authors identify two patterns of inheritance in a Syrian child from consanguineous parents. The membrane-bound O-acyltranferase domain-containing7 (MBOAT7) gene encodes Lysophosphatidylinositol acyltranferase (LPIAT1), which is responsible for the neurodevelopment of the brain cortex. Patients with MBOAT7 variants exhibit pathogenic nervous manifestations such as global developmental delays affecting speech and motor function, intellectual disability (ID), poor coordination, and seizures, with or without MRI abnormalities. MT_TS1, the mitochondrial tRNA gene, is a hotspot for pathogenic mutations causing variable mitochondrial phenotypes, including hearing impairment (HI), ataxia and cognitive impairment.
CLINICAL PRESENTATION
The authors present a case of a 4-year-old child with motor and speech delay, truncal hypotonia, visual tic, poor coordination, autistic features and generalized seizures at 7 months of age. After normal results from lab tests and MRI imaging, along with the family's history of neurological disorders, genetic analysis was necessary to diagnose and assess the possibility of genetic counselling. Next-generation sequencing (NGS) showed two variable variants in the MBOAT7 and MT-TS1 genes. The first mutation is a homozygous variant of uncertain significance in the MBOAT7 gene, associated with the autosomal recessive Mental retardation type 57. The second variant is a heteroplasmic pathogenic variant in the MT-TS1 gene, indicative of mitochondrial disorders.
CONCLUSION
The presence of the MBOAT7 and MT-TS1 gene variants in the same child is noteworthy. The authors must keep genetic mutations of MBOAT7 and MT-TS1 gene in mind as a differential diagnosis for intellectual disability, seizures and autistic features in children, especially in consanguineous families.
PubMed: 38694353
DOI: 10.1097/MS9.0000000000001941 -
Neurotherapeutics : the Journal of the... Apr 2024Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by multiple motor and vocal tics, often accompanied by comorbid disorders. Optional treatments for...
Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by multiple motor and vocal tics, often accompanied by comorbid disorders. Optional treatments for patients with TS include behavioral therapy, pharmacotherapy, and neurostimulation techniques. Deep brain stimulation (DBS) has been considered a therapeutic approach for refractory TS and its comorbid symptoms. However, systematic comparison is necessary to understand the therapeutic effect of DBS among patients with TS with various comorbid symptoms, demographic characteristics, or stimulation targets. Consequently, our research aimed to assess the clinical efficacy of DBS in alleviating the symptoms of TS and its comorbidities. A systematic literature search was conducted across five databases: PubMed, Web of Science, MEDLINE, Embase, and PsycINFO. The primary outcome was the mean change in the global score of the Yale Global Tic Severity Scale (YGTSS), which assesses the severity of tics. The secondary outcomes included mean improvement of comorbid symptoms, such as obsessive-compulsive behaviors (OCB), depression symptoms and anxiety symptoms. In total, 51 studies with 673 participants were included in this meta-analysis. Overall, the DBS led to a significant improvement in tic symptoms (p < 0.001), as well as the comorbid obsessive-compulsive, depression, and anxiety symptoms with effect sizes of 1.88, 0.88, 1.04, and 0.76 accordingly. In the subgroup analysis, we found that striatum stimulation led to a more significant improvement in OCB in patients with TS compared to that observed with thalamic stimulation (p = 0.017). The relationship between sex, age, and target with the improvement of tics, depression, and anxiety was not statistically significant (p = 0.923, 0.438, 0.591 for different male proportions; p = 0.463, 0.425, 0.105 for different age groups; p = 0.619, 0.113, 0.053 for different targets). In conclusion, DBS is an efficient treatment option for TS, as well as the comorbid OCB, depression symptoms, and anxiety symptoms. It is important to highlight that stimulating the striatum is more effective in managing obsessive-compulsive symptoms compared to stimulating the thalamus.
PubMed: 38688785
DOI: 10.1016/j.neurot.2024.e00360 -
Brain Sciences Apr 2024Dandy-Walker complex (DWC) consists of a continuum of brain malformations involving the posterior fossa, often leading to psychiatric manifestations during adulthood. We... (Review)
Review
Dandy-Walker complex (DWC) consists of a continuum of brain malformations involving the posterior fossa, often leading to psychiatric manifestations during adulthood. We discussed the case of a young woman with Dandy-Walker variant (DWV) and a comorbid complex neuropsychiatric presentation, who was diagnosed with an eating disorder, obsessive-compulsive disorder, and a tic disorder. Afterwards, we conducted a Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020-compliant systematic review reappraising all evidence of psychiatric outcomes in adults with DWC. Overall, 34 studies were eligible for data extraction, comprising 36 patients. Psychiatric profiles were more common among young adult males, with DWC lesions, especially DWV subtype, being often discovered incidentally after admission to mental health inpatient facilities. Most patients were diagnosed with psychosis and bipolar disorder, often comorbid with cognitive impairment. Psychotropic polypharmacy was frequently prescribed, generally leading to complete recovery. Evidence from our case report and systematic review indicates the importance of monitoring long-term psychiatric sequelae among adult patients with DWC malformations.
PubMed: 38672014
DOI: 10.3390/brainsci14040362