Gilles de la Tourette syndrome (GTS) is a chronic neuropsychiatric disorder characterized by multiple motor and vocal tics, affecting approximately 1% of the population. The precise neuropathology of GTS has not yet been delineated, but current models implicate subcortical and cortical areas - the cortico-striato-thalamo-cortical (CSTC) circuit. The majority of studies in the literature have either dealt with GTS with comorbid conditions and/or children with GTS. As these factors are known to affect brain structure and function, it unknown what the neurobiological underpinnings of pure adult GTS are. The objective of this body of work was to use functional magnetic resonance imaging (fMRI) and diffusion tensor imaging (DTI) to characterize differences in brain function and structure in pure adult GTS patients versus age- and sex-matched controls. I employed a series of three distinct analyses for this purpose, based upon current models of CSTC circuit-related dysfunction in GTS. In the first, GTS patients and control participants executed three finger-tapping paradigms that varied in both complexity and memory requirements. These finger-tapping tasks were modeled after previous studies that showed CSTC circuit-related activity in healthy individuals. Using a multivariate statistical technique to assess task-related patterns of activation across the whole brain, I found that, while there was much overlap in brain activation patterns between groups, sensorimotor cortical regions were differentially recruited by GTS patients compared to controls. In the second fMRI analysis, I measured low-frequency spontaneous fluctuations of the blood oxygen level dependent signal during rest, and found that GTS patients exhibited greater resting state functional connectivity with the left putamen compared to controls. In the final analysis, DTI was used to provide a whole-brain assessment of regional diffusion anisotropy in GTS patients and healthy volunteers and to investigate the fractional anisotropy in predetermined ROIs. This analysis found no differences between GTS patients and controls. Overall, my findings indicated that several CSTC-related regions shown to be atypical in GTS patients previously, are also atypical in pure adult GTS, and that sensorimotor cortical regions and the putamen may be regions of functional disturbance in pure adult GTS.

Gilles de la Tourette syndrome (GTS) is a chronic neuropsychiatric disorder characterized by multiple motor and vocal tics, affecting approximately 1% of the population. The precise neuropathology of GTS has not yet been delineated, but current models implicate subcortical and cortical areas - the cortico-striato-thalamo-cortical (CSTC) circuit. The majority of studies in the literature have either dealt with GTS with comorbid conditions and/or children with GTS. As these factors are known to affect brain structure and function, it unknown what the neurobiological underpinnings of pure adult GTS are. The objective of this body of work was to use functional magnetic resonance imaging (fMRI) and diffusion tensor imaging (DTI) to characterize differences in brain function and structure in pure adult GTS patients versus age- and sex-matched controls. I employed a series of three distinct analyses for this purpose, based upon current models of CSTC circuit-related dysfunction in GTS. In the first, GTS patients and control participants executed three finger-tapping paradigms that varied in both complexity and memory requirements. These finger-tapping tasks were modeled after previous studies that showed CSTC circuit-related activity in healthy individuals. Using a multivariate statistical technique to assess task-related patterns of activation across the whole brain, I found that, while there was much overlap in brain activation patterns between groups, sensorimotor cortical regions were differentially recruited by GTS patients compared to controls. In the second fMRI analysis, I measured low-frequency spontaneous fluctuations of the blood oxygen level dependent signal during rest, and found that GTS patients exhibited greater resting state functional connectivity with the left putamen compared to controls. In the final analysis, DTI was used to provide a whole-brain assessment of regional diffusion anisotropy in GTS patients and healthy volunteers and to investigate the fractional anisotropy in predetermined ROIs. This analysis found no differences between GTS patients and controls. Overall, my findings indicated that several CSTC-related regions shown to be atypical in GTS patients previously, are also atypical in pure adult GTS, and that sensorimotor cortical regions and the putamen may be regions of functional disturbance in pure adult GTS.

The purpose of the present study was to investigate the differences among the human figure drawings (HFDs) of individuals diagnosed with Obsessive-Compulsive Disorder (OCD), Tourette Syndrome (TS), Attention Deficit Hyperactivity Disorder (ADHD), and Normal Controls. Males and females (N=161), ranging in age from 7.0 to 58.9 years, diagnosed with OCD, TS, ADHD, and individuals with no diagnosis were administered the Draw-A-Person (DAP; Machover, 1949), a human figure drawing task. Analyses were conducted to evaluate relationships between several variables: sex of participant, age, detail, emotional indicators, symptom severity, and sex of figure drawn. Results provided support for the hypothesis that males would draw a same sex figure more often than females, and that males would include more anxiety indicators than females. Results also provided support for the hypothesis that younger participants would include more unusual characteristics in HFDs, although the variance explained was minimal. The hypothesis that symptom severity would influence HFD characteristics was not supported, nor was the hypothesis that sex of participant would influence inclusion of detail. Several of the regression analyses of the smaller clinical groups were statistically significant, yet these results should be interpreted with caution due to the small number of cases used for the analysis.

The neuropathology of Tourette Syndrome (TS) is poorly characterized. This thesis provides the first quantitative stereologic immunohistochemical study of the basal ganglia in TS. TS is a childhood neuropsychiatric disorder characterized by motor and vocal tics. Previous imaging studies found alterations in caudate (Cd) and putamen (Pt) volumes. To investigate possible alterations in cell populations, postmortem basal ganglia tissue from individuals with TS and normal controls (NC) was analyzed using unbiased stereological techniques. A markedly higher (>160% of control) total neuron number and density was found in the internal segment of the globus pallidus (GPi) of TS (p<0.025). An increased number (>220% of control) and proportion of these GPi neurons were positive for the calcium-binding protein parvalbumin (PV) in the tissue from TS subjects (p<0.025). In contrast, a lower number (<60% of control) of neurons was observed in the external segment (GPe) (p<0.025). In addition, there was a lower density of PV-positive interneurons in both Cd (<50% of control) and Pt (<65% of control) (p>0.025). The imbalance in striatal and GPi inhibitory neuron distribution suggests that the functional dynamics of cortico-striato-thalamic circuitry are fundamentally altered in severe, persistent TS.

Diss. (sammanfattning) Uppsala : Uppsala universitet, 2006. / Härtill 4 uppsatser.

Thesis (Ph. D.)--University of California, San Diego, 1998. / Vita. Includes bibliographical references (leaves 148-158).

Thesis (Ph. D.)--Ohio State University, 2008. / Title from first page of PDF file. Includes bibliographical references (p. 128-135).

Thesis (Ph. D.)--State University of New York at Binghamton, Department of English, General Literature, And Rhetoric, 2008.

In hierdie studie is Tourettesindroom as neuro-genetiese toestand aangespreek en die wyse waarop dit in verskillende leer-, gedrags- en emosionele problema by begaafde Tourettesindroomlyers manifesteer. Begaafde Tourettesindroomlyers se relasievorming en leefwereldstigting word gekonstitueer met hul kognitiewe en affektiewe vermoans asook genetiese potensiaal, wat vir beida hul Tourettesindroom en begaafdheid verantwoordelik is. Die verwarring tussen begaafde Tourettesindroomlyers se superieure intellek en hul emosionele onvolwassenheid is die oorsaak van hul relasieprobleme. Negatiewe betekenisgewing en betrokkenheid by hulle relasievorminge bel"nvloed elke faset van hul menswees en gee aanleiding tot die degradering van hul siening van hul eie waarde. Gebrekkige kennis oor begaafdheid en Tourettesindroom veroorsaak dat waardevolle potensiaal en talente vir Suid-Afrika verlore gaan. Daarom moet daar daadwerklike pogings aangewend word om kennis oor begaafde Tourettesindroomlyers aan ouers, skole en universiteite, beskikbaar te stel met 'n konstruktiewe plan van aksie ter ondersteuning van die betrokkenes en tot voordeel van Suid-Afrika. / This study addresses Tourette syndrome as a neuro-genetic condition and the manner whereby it manifests itself in various learning, behavioural and emotional problems experienced by gifted Tourette syndrome sufferers. Their relationship-formation and life world are constituted by their cognitive, emotive and genetic capacity which manifests itself in Tourette syndrome and giftedness. The emotional immaturity which accompanies their superior intellect causes disorientation which results in problems in their relationships. Negative connotations and involvement in their relationship-formation influences each facet of their being and gives rise to the lowering of their perception of their self worth. In South Africa, valuable potential and talent is lost because of an inadequate knowledge of giftedness and Tourette syndrome. Efforts must be directed towards making information about gifted Tourette syndrome sufferers available to parents, schools and universities. A constructive plan of action is necessary that will support gifted Tourette syndrome sufferers to the benefit of South Africa. / Psychology of Education / M. Ed. (Sielkundige Opvoedkunde)

Children with Tourette Syndrome (CWTS) frequently exhibit a high prevalence of disfluent speech behaviors which are often labeled stuttering. The present study analyzed the fluency characteristics of CWTS, in comparison to children who stutter (CWS) and typically developing peers (TDP). It was predicted that CWTS would be less fluent than TDP but more fluent than CWS. A related purpose was to explore whether differences existed in the pattern of disfluencies demonstrated by these groups. To this end, it was predicted that CWTS would demonstrate significantly lower proportions of stuttering-like disfluencies than CWS and significantly higher proportions of stuttering-like disfluencies than TDP. Participants included eight CWTS, eight CWS and eight TDP. Speech samples, collected during a narrative story telling task, were analyzed to determine whether significant differences in the type and frequency of disfluencies were evident between the groups. Results revealed that CWTS were significantly more fluent than CWS and that CWTS produced significantly lower proportions of stuttering-like disfluencies than CWS. Although not statistically significant, CWTS were twice as disfluent as TDP and CWTS produced significantly higher proportions of stuttering-like disfluencies than TDP. These findings confirmed that CWTS present with an atypical disfluency pattern which can be differentiated from that of CWS and TDP based on the total disfluency level and the proportion of stuttering-like disfluencies. / Communication Sciences