Phenotype Development in Adolescents With Tourette Syndrome: A Large Clinical Longitudinal Study

2017 ◽  
Vol 32 (13) ◽  
pp. 1047-1057 ◽  
Author(s):  
Camilla Groth ◽  
Nanette Mol Debes ◽  
Liselotte Skov
Keyword(s):  
Longitudinal Study ◽  
Tourette Syndrome ◽  
Wide Spectrum ◽  
Neurodevelopmental Disorder ◽  
Obsessive Compulsive ◽  
Compulsive Disorder ◽  
Age Related ◽  
Impairment Score ◽  
Tic Severity ◽  
Motor Tics

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.

scholarly journals Elevated Expression of SLC6A4 Encoding the Serotonin Transporter (SERT) in Gilles de la Tourette Syndrome

Genes ◽  
2021 ◽  
Vol 12 (1) ◽  
pp. 86
Author(s):  
Mathis Hildonen ◽  
Amanda M. Levy ◽  
Christina Dahl ◽  
Victoria A. Bjerregaard ◽  
Lisbeth Birk Møller ◽  
...  
Keyword(s):  
Tourette Syndrome ◽  
Serotonin Transporter ◽  
Neurodevelopmental Disorder ◽  
Control Group ◽  
Obsessive Compulsive ◽  
Expression Levels ◽  
Compulsive Disorder ◽  
Hyperactivity Disorder ◽  
Elevated Expression ◽  
Gene Expression Levels

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.

scholarly journals Complex phonic tic and disinhibition in Tourette syndrome: case report

2001 ◽  
Vol 59 (3A) ◽  
pp. 587-589 ◽  
Author(s):  
Débora Palmini Maia ◽  
Francisco Cardoso
Keyword(s):  
Breast Cancer ◽  
Case Report ◽  
Basal Ganglia ◽  
Obsessive Compulsive Disorder ◽  
Tourette Syndrome ◽  
Limbic Cortex ◽  
Obsessive Compulsive ◽  
Compulsive Disorder ◽  
Behavioral Abnormalities ◽  
Motor Tics

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.

scholarly journals Implementation of the Mini-Child Tourette Syndrome Impairment Scale: Relationships to Symptom Severity and Treatment Decisions

2020 ◽  
pp. 088307382096751
Author(s):  
Jordan F. Garris ◽  
David A. Huddleston ◽  
Hannah S. Jackson ◽  
Paul S. Horn ◽  
Donald L. Gilbert
Keyword(s):  
Tourette Syndrome ◽  
Symptom Severity ◽  
Regression Models ◽  
Treatment Decisions ◽  
Valuable Insight ◽  
Clinical Tool ◽  
Obsessive Compulsive ◽  
Compulsive Disorder ◽  
Severity Scores ◽  
Tic Severity

Functional impairment is an important factor in Tic Disorder treatment decisions. We evaluated the mini Child Tourette Syndrome Impairment Scale (mini-CTIM) for correlation with symptom severity and association with interventions. A total of 61 randomly selected tic encounters were retrospectively analyzed for mini-CTIM correlation with symptom severity scores and compared between patients who received treatment and those who did not. Regression models identified factors associated with treatment decisions. Mini-CTIM-tic scores correlated with tic severity and mini-CTIM-non-tic scores correlated with attention-deficit hyperactivity disorder (ADHD) severity. Tic treatment was associated with higher child, but not parent, mini-CTIM-tic scores. Regression models identified that comorbidity treatment was predicted by ADHD severity, obsessive compulsive disorder severity, and parent but not child mini-CTIM-non-tic scores. These findings suggest children have valuable insight into their tic-related impairment, but parent assessment is important for evaluating comorbidity-related impairment. The mini-CTIM may be a useful clinical tool for assessing tic-related impairment.

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
Keyword(s):  
Tourette Syndrome ◽  
Principal Components ◽  
Hierarchical Cluster ◽  
Factor Scores ◽  
Obsessive Compulsive ◽  
Compulsive Disorder ◽  
Five Factors ◽  
Complex Motor ◽  
Unitary Condition ◽  
Motor Tics

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

scholarly journals LRRTM4 Terminal Exon Duplicated in Family with Tourette Syndrome, Autism and ADHD

Genes ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 66
Author(s):  
Raymond A. Clarke ◽  
Valsamma Eapen
Keyword(s):  
Tourette Syndrome ◽  
Neurodevelopmental Disorder ◽  
Strong Association ◽  
Autistic Traits ◽  
Autism Spectrum ◽  
Terminal Exon ◽  
Obsessive Compulsive ◽  
Ionotropic Receptor ◽  
Compulsive Disorder ◽  
Mother And Daughter

Tourette syndrome (TS) is a neurodevelopmental disorder characterised by motor and vocal tics and strong association with autistic deficits, obsessive–compulsive disorder (OCD) and attention-deficit/hyperactivity disorder (ADHD). The genetic overlap between TS and autism spectrum disorder (ASD) includes those genes that encode the neurexin trans-synaptic connexus (NTSC) inclusive of the presynaptic neurexins (NRXNs) and postsynaptic neuroligins (NLGNs), cerebellin precursors (CBLNs in complex with the glutamate ionotropic receptor deltas (GRIDs)) and the leucine-rich repeat transmembrane proteins (LRRTMs). In this study, we report the first evidence of a TS and ASD association with yet another NTSC gene family member, namely LRRTM4. Duplication of the terminal exon of LRRTM4 was found in two females with TS from the same family (mother and daughter) in association with autistic traits and ASD.

scholarly journals Psychosocial outcome and psychiatric comorbidity in older adolescents with Tourette syndrome: controlled study

2010 ◽  
Vol 197 (1) ◽  
pp. 36-44 ◽  
Author(s):  
Daniel A. Gorman ◽  
Nancy Thompson ◽  
Kerstin J. Plessen ◽  
Mary M. Robertson ◽  
James F. Leckman ◽  
...  
Keyword(s):  
Tourette Syndrome ◽  
Psychosocial Functioning ◽  
A Priori ◽  
Psychosocial Outcomes ◽  
Controlled Study ◽  
Obsessive Compulsive ◽  
Global Assessment Scale ◽  
Compulsive Disorder ◽  
Older Adolescents ◽  
Tic Severity

BackgroundChildren with Tourette syndrome generally experience improvement of tics by age 18 years, but psychosocial and comorbidity outcomes at this age are unclear.AimsTo compare psychosocial outcomes and lifetime comorbidity rates in older adolescents with Tourette syndrome and controls. We hypothesised a priori that individuals with Tourette syndrome would have lower Children's Global Assessment Scale (CGAS) scores.MethodA total of 65 individuals with Tourette syndrome, identified in childhood, and 65 matched community controls without tic or obsessive–compulsive disorder (OCD) symptoms were assessed around 18 years of age regarding psychosocial functioning and lifetime psychiatric disorders.ResultsCompared with controls, individuals with Tourette syndrome had substantially lower CGAS scores (P=10−8) and higher rates of attention-deficit hyperactivity disorder (ADHD), major depression, learning disorder and conduct disorder (P⩽0.01). In the participants with Tourette syndrome, poorer psychosocial outcomes were associated with greater ADHD, OCD and tic severity.ConclusionsClinically ascertained children with Tourette syndrome typically have impaired psychosocial functioning and high comorbidity rates in late adolescence.

Predictors of the Clinical Course of Tourette Syndrome: A Longitudinal Study

2019 ◽  
Vol 34 (14) ◽  
pp. 913-921 ◽  
Author(s):  
Camilla Groth ◽  
Liselotte Skov ◽  
Theis Lange ◽  
Nanette M. Debes
Keyword(s):  
Longitudinal Study ◽  
Emotional Disorders ◽  
Tourette Syndrome ◽  
Clinical Course ◽  
Neurodevelopmental Disorder ◽  
Early Adulthood ◽  
Prospective Longitudinal Study ◽  
Compulsive Disorder ◽  
Severity Scores ◽  
Prospective Longitudinal

Objective: Tourette syndrome (TS) is a chronic childhood neurodevelopmental disorder characterized by motor and vocal tics and frequent comorbidities. The clinical presentation of Tourette syndrome is heterogeneous and the prognosis for each individual child is difficult to define. This large prospective longitudinal study explores predictors in childhood of the clinical course of tics and comorbidities in early adulthood. Methods: The cohort was recruited at the Danish National Tourette Clinic. Data were collected at baseline (N = 314; ages, 5-19 years) and follow-up 6 years later (n = 227; ages, 11-26 years) to examine changes in the expression of tics and comorbidities. Childhood clinical factors, represented by 4 binary clinical outcomes, were selected as possible predictors of the clinical course of tics and comorbidities in early adulthood; these were tic severity and diagnoses of obsessive compulsive disorder (OCD), attention-deficit hyperactivity disorder (ADHD), and emotional disorders. Results: The strongest predictors of high tic scores, OCD, or ADHD diagnoses in early adulthood were the corresponding tic (odds ratio [OR]: 1.09), OCD (OR: 1.08), and ADHD (OR: 1.13) severity scores (per scale point) in childhood. Being female (OR: 3.94) and childhood ADHD severity (OR: 1.11) predicted future emotional disorders. Special education, genetic factors, and psychosocial factors were also predictive for the clinical course of Tourette syndrome. Conclusion: We identified strong clinical predictors of Tourette syndrome–associated outcomes in early adulthood that are directly applicable to clinical Tourette syndrome populations and may help to guide new patients, plan early interventions, and implement preventive measures.

Parent and Patient Perceptions of Functional Impairment Due to Tourette Syndrome: Development of a Shortened Version of the Child Tourette Syndrome Impairment Scale

2017 ◽  
Vol 32 (8) ◽  
pp. 725-730 ◽  
Author(s):  
Kara S. Francis Barfell ◽  
Ryan R. Snyder ◽  
Kelly M. Isaacs-Cloes ◽  
Jordan F. Garris ◽  
Alyssa R. Roeckner ◽  
...  
Keyword(s):  
Factor Analysis ◽  
Tourette Syndrome ◽  
Assessment Tool ◽  
Correlation Coefficients ◽  
Patient Perceptions ◽  
Published Data ◽  
Obsessive Compulsive ◽  
Compulsive Disorder ◽  
Hyperactivity Disorder ◽  
Tic Severity

The Child Tourette Syndrome Impairment Scale (CTIM) rates 37 problems in school, social, and home domains separately for tics and for comorbid diagnoses. However, a shorter version would be easier to implement in busy clinics. Using published data from 85 children with Tourette syndrome, 92 controls, and parents, factor analysis was used to generate a “mini-CTIM” composed of 12 items applied to tic and comorbid diagnoses. Child- and parent-rated mini-CTIM scores were compared and correlated across raters and accounting for clinician-rated tic severity and presence of attention-deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD). The mini-CTIM achieved domain Cronbach alphas ranging from 0.71 to 0.94 and intra-item correlation coefficients ranging from 0.84 to 0.96. The resulting scale correlated with clinician-rated tic severity and reflected the presence of ADHD and OCD. The mini-CTIM appears promising as a practical assessment tool for tic- and non–tic-related impairment in children with Tourette syndrome.

scholarly journals Networks in the Field of Tourette Syndrome

2021 ◽  
Vol 12 ◽  
Author(s):  
Alexander Kleimaker ◽  
Maximilian Kleimaker ◽  
Amelie Behm ◽  
Anne Weissbach ◽  
Tobias Bäumer ◽  
...  
Keyword(s):  
Tourette Syndrome ◽  
Genetic Factors ◽  
Neurodevelopmental Disorder ◽  
Obsessive Compulsive ◽  
Genetic Studies ◽  
Compulsive Disorder ◽  
Hyperactivity Disorder ◽  
Large Numbers ◽  
Clinical Phenomenology ◽  
External Stimuli

Gilles de la Tourette syndrome (TS) is a neuropsychiatric neurodevelopmental disorder with the cardinal clinical features of motor and phonic tics. Clinical phenomenology can be complex since, besides tics, there are other features including premonitory urges preceding tics, pali-, echo-, and coprophenomena, hypersensitivity to external stimuli, and symptom dependency on stress, attention, and other less well-defined factors. Also, the rate of comorbidities, particularly attention deficit hyperactivity disorder and obsessive-compulsive disorder, is high. Mirroring the complexities of the clinical course and phenomenology, pathophysiological findings are very diverse, and etiology is disputed. It has become clear, though, that abnormalities in the basal ganglia and their connections with cortical areas are key for the understanding of the pathophysiology and as regards etiology, genetic factors are crucial. Against this background, both adequate clinical management of TS and TS-related research require multidisciplinary preferably international cooperation in larger groups or networks to address the multiple facets of this disorder and yield valid and useful data. In particular, large numbers of patients are needed for brain imaging and genetic studies. To meet these requirements, a number of networks and groups in the field of TS have developed over the years creating an efficient, lively, and supportive international research community. In this review, we will provide an overview of these groups and networks.

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