scholarly journals Principal components analysis of a large cohort with Tourette syndrome

2008 ◽  
Vol 193 (1) ◽  
pp. 31-36 ◽  
Author(s):  
Mary M. Robertson ◽  
Robert R. Althoff ◽  
Adam Hafez ◽  
David L. Pauls

BackgroundTourette syndrome is a heterogeneous familial disorder for which the genetic mechanisms are unknown. A better characterisation of the phenotype may help identify susceptibility genesAimsTo extend previous factor-analytic studies of the syndromeMethodSymptom data from 410 people with Tourette syndrome were included in agglomerative hierarchical cluster and principal components analysesResultsFive factors were observed, characterised by: (1) socially inappropriate behaviours and other complex vocal tics; (2) complex motor tics; (3) simple tics; (4) compulsive behaviours; and (5) touching self. Individuals with co-occurring attention-deficit hyperactivity disorder had significantly higher factor scores on Factors 1 and 3, whereas individuals with co-occurring obsessive-compulsive disorder and behaviours had significantly higher factor scores for Factors 1–4ConclusionsThese findings add to the growing body of evidence that Tourette syndrome is not a unitary condition and can be disaggregated into more homogeneous symptom components

2001 ◽  
Vol 59 (3A) ◽  
pp. 587-589 ◽  
Author(s):  
Débora Palmini Maia ◽  
Francisco Cardoso

Tourette syndrome (TS) is a neuropsychiatric disorder characterized by a combination of multiple motor tics and at least one phonic tic. TS patients often have associated behavioral abnormalities such as obsessive compulsive disorder, attention deficit and hyperactive disorder. Coprolalia, defined as emission of obscenities or swearing, is one type of complex vocal tic, present in 8% to 26% of patients. The pathophysiology of coprolalia and other complex phonic tics remains ill-defined. We report a patient whose complex phonic tic was characterized by repetitively saying "breast cancer" on seeing the son of aunt who suffered from this condition. The patient was unable to suppress the tic and did not meet criteria for obsessive compulsive disorder. The phenomenology herein described supports the theory that complex phonic tics result from disinhibition of the loop connecting the basal ganglia with the limbic cortex.


2017 ◽  
Vol 32 (13) ◽  
pp. 1047-1057 ◽  
Author(s):  
Camilla Groth ◽  
Nanette Mol Debes ◽  
Liselotte Skov

Tourette syndrome (TS) is a neurodevelopmental disorder characterized by frequent comorbidities and a wide spectrum of phenotype presentations. This study aimed to describe the development of phenotypes in TS and tic-related impairment in a large longitudinal study of 226 children and adolescents followed up after 6 years. The participants were clinically examined to assess tic severity and impairment, obsessive compulsive disorder (OCD), and attention-deficit/hyperactivity disorder (ADHD). The development in phenotypes changed toward less comorbidity with 40% TS-only (no OCD or ADHD) (TS without OCD or ADHD) at baseline and 55% at follow-up.Tic-related impairment was expected to improve with an age-related tic decline, but surprisingly the impairment score did not reflect the tic decline. Sex, vocal and motor tics, and OCD and ADHD severity were highly significantly correlated to the impairment score. Knowledge of TS phenotype development is used in clinical settings to guide patients and for genetic, etiological, and clinical research purposes.


Genes ◽  
2021 ◽  
Vol 12 (1) ◽  
pp. 86
Author(s):  
Mathis Hildonen ◽  
Amanda M. Levy ◽  
Christina Dahl ◽  
Victoria A. Bjerregaard ◽  
Lisbeth Birk Møller ◽  
...  

Gilles de la Tourette syndrome (GTS) is a complex neurodevelopmental disorder characterized by motor and vocal tics. Most of the GTS individuals have comorbid diagnoses, of which obsessive-compulsive disorder (OCD) and attention deficit-hyperactivity disorder (ADHD) are the most common. Several neurotransmitter systems have been implicated in disease pathogenesis, and amongst these, the dopaminergic and the serotonergic pathways are the most widely studied. In this study, we aimed to investigate whether the serotonin transporter (SERT) gene (SLC6A4) was differentially expressed among GTS individuals compared to healthy controls, and whether DNA variants (the SERT-linked polymorphic region 5-HTTLPR, together with the associated rs25531 and rs25532 variants, and the rare Ile425Val variant) or promoter methylation of SLC6A4 were associated with gene expression levels or with the presence of OCD as comorbidity. We observed that SLC6A4 expression is upregulated in GTS individuals compared to controls. Although no specific genotype, allele or haplotype was overrepresented in GTS individuals compared to controls, we observed that the LAC/LAC genotype of the 5-HTTLPR/rs25531/rs25532 three-locus haplotype was associated with higher SLC6A4 mRNA expression levels in GTS individuals, but not in the control group.


2003 ◽  
Vol 14 (1-2) ◽  
pp. 29-37 ◽  
Author(s):  
Sandra Verena Müller ◽  
Sönke Johannes ◽  
Berdieke Wieringa ◽  
Axel Weber ◽  
Kirsten Müller-Vahl ◽  
...  

Objective:Fronto-striatal dysfunction has been discussed as underlying symptoms of Tourette syndrome (TS) with co-morbid Obsessive Compulsive Disorder (OCD). This suggests possible impairments of executive functions in this disorder, which were therefore targeted in the present study.Results:A comprehensive series of neuropsychological tests examining attention, memory and executive functions was performed in a group of 14 TS/OCD in co-occurrence with OCD patients and a matched control group.Results:While attentional and memory mechanisms were not altered, TS/OCS patients showed deficits in executive functions predominately in the areas of response inhibition and action monitoring.Conclusions:These findings provide further evidence for a substantial impairment of the frontal-striatal-thalamic-frontal circuit. We propose that the deficits in monitoring, error detection and response inhibition constitute the major impairment of TS/OCD patients in the cognitive domain.


2014 ◽  
Vol 219 (3) ◽  
pp. 710-711 ◽  
Author(s):  
Birgitte Bertelsen ◽  
Linea Melchior ◽  
Camilla Groth ◽  
Nanette Mol Debes ◽  
Liselotte Skov ◽  
...  

2006 ◽  
Vol 21 (6) ◽  
pp. 881-883 ◽  
Author(s):  
Stefanie Klaffke ◽  
Inke R. König ◽  
Fritz Poustka ◽  
Andreas Ziegler ◽  
Johannes Hebebrand ◽  
...  

CNS Spectrums ◽  
2008 ◽  
Vol 13 (8) ◽  
pp. 705-711 ◽  
Author(s):  
T.S. Jaisoorya ◽  
Y.C. Janardhan Reddy ◽  
S. Srinath ◽  
K. Thennarasu

ABSTRACTIntroduction: Evidence from phenomenological, family, genetic, and treatment studies from Western centers have suggested that tic-related obsessive-compulsive disorder (OCD) could be different from non-tic-related OCD. This study from India investigated the differences in OCD with and without tics, with respect to sociode-mographics, symptom profile, and comorbidity, including obsessive-compulsive spectrum disorders, to examine whether the clinical profile of tic-related OCD is similar to that reported previously.Methods: Fifty subjects with OCD and tics (chronic motor tics and Tourette syndrome) were compared with 141 OCD subjects without tics.Results: Subjects having OCD with tics tended to be males, and had an earlier onset of illness. They had more of symmetry/aggressive and religious obsessions, and cleaning, ordering/arranging, hoarding, and repeating compulsions and were associated with trichotillomania and hypochondraisis. Stepwise backward (Wald) regression analysis showed that an early age of onset, male gender, aggressive obsessions, cleaning compulsions, and trichotillomania were significantly associated with tic-related OCD.Conclusion: The findings of this study from India are broadly similar to those reported previously from the West indicating the universality of differences in tic- and non-tic-related OCD. Our findings also support the existing evidence that tics contribute to the heterogeneity of OCD.


2021 ◽  
Vol 12 ◽  
Author(s):  
Justyna Kaczyńska ◽  
Piotr Janik

Introduction: Patients with Gilles de la Tourette syndrome (GTS) may experience blocking tics (BTs) defined as recurrent, brief cessations of motor acts. The aim of this study was to assess the prevalence, age of onset, and clinical correlates of BTs in GTS patients.Materials and Methods: We performed a one-time registration study in a cohort of 195 consecutive GTS patients aged 5–66 years (mean age: 15.0 ± 9.2; 47 females, 24.1%). All patients were personally interviewed and examined.Results: At least one BT occurred at some point in the lifetime of 73 patients (37.4%) with a mean age of onset of 10.4 ± 5.9 years. BTs occurred an average of 4.8 ± 5.3 years after tic onset. The most common BT was cessation of walking (n = 59, 80.8%), followed by speech (n = 19, 26.0%), running (n = 18, 24.7%), and writing (n = 9, 12.3%). Most of the patients (n = 52, 71.2%) reported cessation of only one activity. Clinical associations of BTs included more severe tics, overall greater number of tics, and, to a lesser extent, higher age at evaluation and comorbid obsessive-compulsive disorder.Conclusions: BTs represent complex tics, early and common symptoms of GTS, and are associated with a more severe form of GTS.


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