The Gilles de la Tourette Syndrome: A principal component factor analytic study of a large pedigree

Article · July 2007with16 Reads
DOI: 10.1097/YPG.0b013e328015b937 · Source: PubMed
The genetics and phenotypes of Gilles de la Tourette syndrome are complicated. Once indicated to be inherited as a single major autosomal dominant condition, several areas of interest on many chromosomes and one gene have been identified for Gilles de la Tourette syndrome, but no results have been replicated. Factor analytic studies suggest that there are more than one Gilles de la Tourette syndrome phenotype and it is not a unitary condition. To characterize Gilles de la Tourette syndrome phenotypes in a group of individuals who underwent a complete genome scan. We studied 85 members of a multiply affected multigenerational kindred, of whom 69 displayed Gilles de la Tourette syndrome-related symptoms (tics, obsessive-compulsive behaviours, obsessive-compulsive symptoms, attention deficit hyperactivity symptoms), using first a hierarchical cluster analysis followed by a principal component factor analysis. Three significant factors resulted from our analysis, accounting for approximately 42% of the symptomatic variance: Factor 1 (predominantly 'pure tics'), Factor 2 (predominantly 'attention deficit hyperactivity disorder and aggressive behaviours') and Factor 3 (predominantly 'depression-anxiety-obsessional symptoms and self-injurious behaviours'). Different kinds of tics occurred in all three factors. Only frowning/raising eyebrows and sniffing/smelling loaded significantly on both Factors 1 and 3. Our results give further evidence that the genetics of Gilles de la Tourette syndrome is complex and suggest that Gilles de la Tourette syndrome is not a unitary condition, thus confirming the results of earlier studies which have described several Gilles de la Tourette syndrome phenotypes. Although a genome scan on the pedigree reported three areas of interest and the present study found three factors, further studies would have to be undertaken to elucidate whether the three factors 'mapped' with the genetic data. Possible reasons for our findings and suggestions for future research are discussed.
    • ADHD (54.3%), or anxiety disorders (36.1%). Factor analytic studies have confirmed a similar frequency (36%) of depressive disorders in a large clinical population of 639 GTS patients (Cavanna et al. 2011), whereas a previous report by the same authors (Robertson and Cavanna 2007 ) detected that depressive symptomatology was included in one of four identified factors in association with anxiety, obsessionality, and SIBs. We could also confirm that clinically relevant symptomatology was more likely to be apparent in older patients within the first two decades, in line with previous observations proposing older age as a general risk factor for depression in GTS (Snijders et al. 2006).
    [Show abstract] [Hide abstract] ABSTRACT: Objective: Gilles de la Tourette syndrome (GTS) and depression are both common disorders. It has been suggested that depression occurs in 13%-76% GTS patients. Despite this, there are few studies into the specific relationships and correlates between the two disorders. There is only some consensus as to the precise relationship between the two disorders. Materials and methods: We undertook the study to investigate the relationship between depressive symptomatology and the core clinical features of GTS in a well-characterized clinical population of youth with this disorder. Our aim was to verify the association between depression and comorbid obsessive-compulsive disorder and explore further other potential associations highlighted in some, but not all, of the studies focused on this topic. Results: Our results demonstrated that (1) the GTS patients were significantly older than the controls, (2) the GTS patients were significantly more depressed than controls, (3) depression was associated with tic severity, (4) the Diagnostic Confidence Index scores were higher in GTS patients without depression, (5) anxiety, attention-deficit/hyperactivity disorder (ADHD), conduct disorder (CD), and behavioral problems were significantly associated with depression, and (6) finally, patients with GTS and depression have a positive family history of depression. However, obsessionality (CY-BOCS) did not differentiate between depressed and not depressed GTS patients. Conclusions: Depression is common in patients with GTS and occurs significantly more in GTS than in controls. Depression is significantly associated with GTS factors such as tic severity, comorbidity with ADHD, and the presence of coexistent anxiety, CDs, and behavior problems. Depression is importantly significantly associated with a positive family history of depression. Intriguingly, depression in our sample was not related to obsessionality.
    Article · Jan 2017
    • Tourette's syndrome is known to have an autosomal dominant pattern of inheritance with incomplete penetrance. [10] The aim of management is primarily symptom reduction, management of comorbidities, and management of precipitants. Pharmacological management primarily includes antipsychotics (haloperidol, risperidone, aripiprazole, quetiapine, pimozide, etc.), alpha agonists (clonidine, guanfacin), and benzodiazepine (clonazepam, etc.).
    [Show abstract] [Hide abstract] ABSTRACT: Gilles de la Tourette's syndrome is an uncommon illness associated with repetitive un-voluntary abnormal movements and utterance. It is often associated with other psychiatric morbidities. Management requires awareness of this uncommon illness, keen observation, relevant evaluation, and combination of pharmacology and psychotherapy for an optimal outcome. This case is brought out here for florid presentation and nuances of management.
    Full-text · Article · Jul 2015
    • The recognition and clinical characterization of TS-related behavioral problems is therefore essential for the appropriate management of young people with TS. To date, several authors have investigated the behavioral, affective, and cognitive phenotypes of youngsters with TS (e.g., Cavanna et al., 2011; Freeman & The Tourette Syndrome International Database Consortium, 2007; Rizzo et al., 2007; Robertson & Cavanna, 2007). Specifically, it has been shown that young patients with TS can exhibit an unusual personality profile, with significantly increased indicators of poor emotional control, aggression, anxiety, and depression compared to healthy controls (Balottin et al., 2009; Eddy, Rickards, Critchley & Cavanna, 2013).
    [Show abstract] [Hide abstract] ABSTRACT: Young patients with Tourette Syndrome (TS) can exhibit poor emotional control and aggression. We explored anger in young patients with TS. Twenty-five patients diagnosed with TS and 41 healthy controls completed the State-Trait Anger Expression Inventory (STAXI). Parents and teachers completed the Child Behavior Checklist, and Conners' Parent/Teacher Rating Scales-Revised. STAXI scores were not significantly different between patients with TS and controls. However, many proxy-rated measures linked to anger and externalizing problems were significantly higher in TS. As proxy-rated instruments revealed more oppositional and aggressive behaviors in young patients with TS, they are important in the multidimensional assessment of TS. These findings offer useful insights into the nature of anger symptoms in young patients with TS and provide a basis for more effective diagnosis and management.
    Full-text · Article · Dec 2014
    • Thus, given the number of comorbidities and the complexity of the phenomenology of tics and tic -related behaviors (Lewis and Kim, 2009; Worbe et al., 2010b) GTS is a prototype of a complex neuropsychiatric spectrum disorder (Cavanna et al., 2009; Robertson, 2011; Roessner et al., 2005 Roessner et al., , 2007 Wanderer et al., 2012 ). Using principal component factor and hierarchical cluster analyses different GTS-subtypes have been postulated (Alsobrook and Pauls, 2002; Cavanna et al., 2011; Mathews et al., 2007; Robertson and Cavanna, 2007). Although variations exist between the reported results, depending on the exact factor loadings or the identified clusters, it has become clear that core features of GTS include simple and complex tics, impulsivity , aggressive (self-injurious behavior, coprophenomena) and compulsive (or repetitive) behaviors (Alsobrook and Pauls, 2002; Cavanna et al., 2011; Mathews et al., 2007; Robertson, 2011).
    [Show abstract] [Hide abstract] ABSTRACT: Gilles de la Tourette syndrome (GTS) holds a prime position as a disorder transgressing the brittle boundaries of neurology and psychiatry with an entangling web of motor and behavioural problems. With tics as the disorder's hallmark and myriads of related signs such as echo-, pali- and coprophenomena, paralleled by a broad neuropsychiatric spectrum of comorbidities encompassing attention deficit hyperactivity disorder, obsessive-compulsive disorder but also self-injurious behaviour and depression, GTS pathophysiology remains enigmatic. In this review, in the light of GTS phenomenology, we will focus on current theories of tic-emergence related to aberrant activity in the basal ganglia and abnormal basal ganglia - cortex interplay through cortico-striato-thalamocortical loops from an anatomical, neurophysiological and functional-neuroimaging perspective. We will attempt a holistic view to the countless major and minor drawbacks of the GTS brain and comment on future directions of neuroscientific research to elucidate this common and complex neuropsychiatric syndrome, which merits scientific understanding and social acceptance.
    Full-text · Article · Dec 2012
    • Although rare, these mutations can make a key contribution to our understanding of disease pathogenesis in TS. TS was once thought to be a unitary con- dition [29], but recent clinical studies using statistical techniques such as principal-component factor analysis , hierarchical cluster analysis and latent class analysis have suggested there may be multiple distinct TS phenotypes [30]. In order to increase the likelihood of finding genes responsible for TS precise phenotypic definition should be incorporated in future genetic stu- dies.
    [Show abstract] [Hide abstract] ABSTRACT: Tourette syndrome (TS) is a neurological condition first described by Georges Gilles de la Tourette in 1885. TS was largely thought of as a rare and bizarre condition until the 1960s, when the beneficial effects of neuroleptics on tic symptoms led to an exponential increase in neuroscientific research. Today TS is known to be a relatively common condition that is frequently misdiagnosed due to a combination of its variable manifestation and the waxing and waning of tic frequency and severity. Although there has been a paucity of research on TS compared to other movement disorders, in recent years TS has garnered increasing interest and has shown a number of novel and complex sides, about which much is yet to be learnt. The present article discusses where research has taken us thus far and where it is heading in all the major facets of this fascinating condition.
    Full-text · Article · Nov 2012
    • iated with combined motor and vocal tics appears to be greater than with chronic motor tics alone, and supports the distinction of TD from CMVTD. Some studies have identified factors for simple tics and complex motor and vocal tics. [21] Others have found complex motor, complex vocal tics, and simple motor and vocal tics to be important constructs. [19] These studies combined suggest that simple and complex tics, and vocal tics appear to be unique constructs. Methodological differences and shortcomings including small sample sizes and varying sampling strategies (e.g. large kindreds, population isolates, and clinic populations) lessen enthusiasm for supporting diagnostic changes based
    [Show abstract] [Hide abstract] ABSTRACT: This study provides a focused review of issues that are relevant to the nosology of the tic disorders and presents preliminary recommendations to be considered for DSM-V. The recommended changes are designed to clarify and simplify the diagnostic criteria, reduce the use of the residual category, tic disorder not otherwise specified, and are not intended to alter substantially clinical practice or the continuity of past and future research. Specific recommendations include: (1) a more precise definition of motor and vocal tics; (2) simplification of the duration criterion for the tic disorders; (3) revising the term "transient tic disorder" for those with tic symptoms of less than 12-month duration; (4) establishing new tic disorder categories for those with substance induced tic disorder and tic disorder due to a general medical condition; and (5) including a motor tic only and vocal tic only specifier for the chronic motor or vocal tic disorder category.
    Full-text · Article · Jun 2010
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August 2015
    Gilles de la Tourette syndrome otherwise simply known as Tourette Syndrome (TS) is characterized by involuntary movements and phonation; invariably classified as tic disorder1.A tic is an involuntary, sudden, rapid, recurrent, non-rhythmic, stereotyped, motor movement or vocalization. The most common co-occurring disorders with TS are Attention Deficit Hyperkinetic Disorder (ADHD) 50-60% and... [Show full abstract]
    July 2015 · Australian and New Zealand Journal of Psychiatry · Impact Factor: 3.41
      Objective: Tourette syndrome is often associated with attention deficit hyperactivity disorder, obsessive compulsive disorder and other co-morbidities, the presence of which can reduce health-related quality of life. The relationship between the number and type of co-morbidities and tic severity upon health-related quality of life has been insufficiently examined in Tourette syndrome... [Show full abstract]
      December 1999 · Revista medica de Chile · Impact Factor: 0.30
        Background: Tourette’s syndrome is a childhood-onset hereditary neurobehavioural disorder believed to occur without geographical restrictions. Although there have been reports of this disorder worldwide just a few are from Latin America. Aim: To report a preliminary experience with a series of 70 patients and to review recent advances in this disorder. Patients and Method: We reviewed patients... [Show full abstract]
        March 1999 · Revista Brasileira de Psiquiatria · Impact Factor: 1.77
          The Tourette's Syndrome (TS), considered in the past as a rare condition - a medical curiosity- has been object of growing concern both in the literature and neuropsychiatric practice. Recent epidemiological studies show that the pathology is much more frequent than it was thought before. Association with Obsessive-Compulsive Disorder is well established integrating this syndrome to the... [Show full abstract]
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