Dissertations / Theses on the topic 'Tourette’s Disorder'

Tourette’s is currently considered a neurodevelopmental genetic disorder. Georges Gilles de la Tourette is given primary credit for the diagnoses of the disorder in the late 1800s. Clear answers have been elusive although modern research and improvements to neuroimaging have enabled the causal factors of Tourette’s Disorder (TD) to be examined with greater scrutiny. Currently, there is no known cure or pharmaceutical treatment that has been proven 100% effective for all patients and symptoms of Tourette’s. Anecdotally, there have been recent media and self-reports of people diagnosed with Tourette’s finding relief from their symptoms through involvement in focus-based activities such as video games, athletic endeavors and musical engagement, albeit little empirical evidence exists on these subjects. The author is seeking empirical data showing the influence of musical engagement on the symptoms of Tourette’s. This research does not focus on the receptive activity of listening to music, but engagement. This performance-based music making or engagement can be described as the body being physically involved in the creation and production of music which comes from such activities as playing a musical instrument or singing. This study seeks to answer the question, “does musical engagement influence the symptoms of Tourette’s?” A self-reported survey instrument was generated to question those claiming to be musicians who have been diagnosed with TD to explore what effect engaging in a musical activity has on their symptoms. Participants’ responses to ten questions were analyzed. The survey apex involved a Likert-type scale asking to what extent these musicians experienced changes in their symptoms. One hundred eighty-three (N = 183) respondents rated their perceptions from one to five where one equaled drastic symptoms increase by engaging in a musical activity and five equaled drastic symptoms decrease. The mean response from the scale was 4.45, clearly showing that these musicians with TD experienced a great deal of relief when engaged in their activity. This study presents evidence and support for research into neurodevelopmental and musical training correlations and a strong case for childhood music education as a means to facilitate this training.

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.

Tic disorders can have a significant emotional and social impact on children and their families. There is increasing support for the use of parenting programmes in childhood conditions; however research into the applicability of such programmes in tic disorders is limited. This thesis therefore aimed to investigate the topic of parenting interventions in tic disorders. The thesis presents five chapters, written as a series of self-contained papers and prepared in accordance with selected journal submission guidance. Paper 1 is a systematic literature review of the implementation and effectiveness of behavioural parent training programmes across neurodevelopmental disorders. Twenty-two randomised controlled studies were included in the review. Neurodevelopmental disorders included attention deficit hyperactivity disorder, autistic spectrum conditions, intellectual difficulties and developmental disorders and tic disorders. Training programmes included Triple P, Barkley’s Defiant Children, Parent Child Interaction Therapy, New Forest Parenting, Parenting your Hyperactive Preschooler, Parents Plus Children, Preschoolers with Autism, Incredible Years and an idiosyncratic programme. Effects of interventions on child outcomes were examined alongside intervention characteristics and content. Results indicated robust evidence for effects of parent training on attention-deficit/hyperactivity difficulties and externalising difficulties, across neurodevelopmental disorders and training programmes. Evidence to support the effect of parent training on internalising, social and global difficulties across disorders was less robust, with fewer and inconsistent outcomes reported. Clinical and research implications resulting from the findings are discussed. Papers 2 and 3 present empirical studies. Both studies are Q-methodological investigations into opinions on parenting interventions in tic disorders. Q-methodology is a technique which enables participants’ subjective viewpoints to be grouped using by-person factor analysis. Views on the acceptability, effectiveness, feasibility and utility of parenting interventions were explored across parents of children with tic disorders (Paper 2) and professionals (Paper 3). Across both studies, seven main factors were identified (parents four, professionals three). Findings highlighted that interventions were generally considered acceptable, justified and perceived as needed. However, important differences in opinions were found within and between parent and professional groups, highlighting key clinical considerations for possible intervention format, delivery and content. Paper 4 provides a commentary of the clinical implications of these findings when the two studies are considered together, and provides guidance to further develop and implement interventions. Paper 5 presents a critical review, including discussion of the strengths, limitations and implications of the findings, alongside personal reflections on the research process.

A fenomenologia da síndrome de Tourette (ST) é complexa. Apesar de tiques motores e vocais serem as características definidoras da síndrome, muitas pessoas relatam ter urgências premonitórias (fenômenos sensoriais) de difícil descrição. A história natural da ST também é variável, com alguns indivíduos que experimentam uma redução acentuada nos tiques até o final da segunda década de vida, enquanto outros permanecem com sintomas ao longo de toda a vida adulta. Os objetivos principais desta tese são três: (1) desenvolver um instrumento de avaliação clínica com boa validade e confiabilidade para ST; (2) investigar os fenômenos sensoriais (FS) associados a ST; e (3) documentar o curso da gravidade dos tiques durante as duas primeiras décadas de vida. Para atingir esses objetivos incluíram-se grupos de pacientes clinicamente bem caracterizados e de artigos científicos publicados em periódicos internacionais de alto impacto. A Escala de Gravidade Global de tiques de Yale (YGTSS) apresentou excelentes propriedades psicométricas, o que foi replicado em estudos independentes. Também emergiu como a escala de gravidade mais utilizada em ensaios clínicos randomizados para ST em todo o mundo. Os FS, particularmente urgências premonitórias, são comumente relatados entre os indivíduos com ST com a partir da idade de 10 anos. Há uma sobreposição considerável com os FS descritos por indivíduos com Transtorno Obsessivo- Compulsivo (TOC). Os tiques costumam ter seu início na primeira década de vida e, então, seguem um curso flutuante com mudança do seu repertório. Conforme documentado no terceiro estudo, para a maioria dos pacientes, o período de pior gravidade dos tiques ocorre geralmente entre 7 e 15 anos de idade, após o qual a gravidade declina gradualmente. Esta queda dos sintomas de tiques é consistente com os dados epidemiológicos disponíveis que indicam uma prevalência muito menor de ST entre adultos do que crianças. Em resumo, há um esforço para incremento da caracterização fenomenológica e da história natural da ST. Revisões da YGTSS devem ser consideradas. Avanços significativos foram feitos para caracterizar e mensurar os FS associados a ST. Estudos acerca das bases neurobiológicas, da fenomenologia e da história natural da ST estão em andamento no sentido de identificar os indicadores prognósticos
The phenomenology of Tourette syndrome is complex. Although overt motor and vocal tics are the defining features of Tourette syndrome, many individuals report experiencing sensory \"urges,\" which are often difficult to describe. The natural history of this condition is also variable, with some individuals experiencing a marked reduction in tics by the end of the second decade of life while others go on to have a lifelong condition. The aim of this thesis was three-fold: (1) to develop a valid and reliable clinical rating instrument; (2) to investigate the sensory phenomena associated with Tourette syndrome; and (3) to document the course of tic severity over the course of the first two decades of life. Each of these three studies involved groups of patients with Tourette syndrome or a chronic tic disorder and each of these studies has been published in a peer-reviewed journal. The Yale Global Tic Severity Scale (YGTSS) has excellent psychometric properties that have been independently replicated. It has also emerged as the most widely used clinician-rated tic severity scale in randomized clinical trials around the world. Sensory phenomena, particularly premonitory urges, are commonly reported among individuals with Tourette syndrome by the age of 10 years. There is considerable overlap with the sensory phenomena described by individuals with Obsessive-Compulsive Disorder. Tics usually have their onset in the first decade of life. They then follow a waxing and waning course and a changing repertoire of tics. As documented in the third study, for a majority of patients the period of worst tic severity usually falls between the ages of 7 and 15 years of age, after which tic severity gradually declines. This falloff in tic symptoms is consistent with available epidemiological data that indicate a much lower prevalence of Tourette syndrome among adults than children. This decline in tic severity has been confirmed in subsequent studies. In summary, incremental progress is being made in our efforts to characterize the phenomenology and natural history of Tourette syndrome. Revisions to the YGTSS should be considered. Significant advances have been made in measuring the premonitory urges associated with Tourette syndrome. The neurobiological underpinnings of the phenomenology and natural history of Tourette syndrome are currently underway in an effort to identify prognostic indicators

Introdução: O Transtorno Obsessivo-Compulsivo (TOC) é reconhecido como um transtorno heterogêneo. Esta heterogeneidade dificulta a interpretação dos resultados dos estudos. A descrição de grupos de pacientes mais homogêneos pode facilitar a identificação desta busca, já que pode identificar fenótipos que sejam hereditários e válidos do ponto de vista genético. A abordagem categorial e dimensional são estratégias reconhecidas para a identificação de subgrupos mais homogêneos de pacientes. Dentro da abordagem categorial, o subgrupo de pacientes com início precoce dos sintomas obsessivo-compulsivo (SOC), e o subgrupo de TOC associado a transtorno de tiques apresentam características clínicas semelhantes, com evidências de sobreposição destas características entre os dois grupos. Os objetivos deste estudo foram: investigar características demográficas e clínicas dos pacientes com TOC de início precoce (GP) e TOC de início tardio (GT); e pesquisar características demográficas e clínicas dos pacientes com TOC de início precoce (GP) com tiques e pacientes com TOC de início precoce (GP) sem tiques. Metodologia: Trezentos e trinta pacientes com diagnóstico de TOC de acordo com o DSM-IV foram avaliados diretamente com os seguintes instrumentos: Entrevista Clínica Estruturada para o DSM-IV - Transtornos do Eixo I; Escala Yale-Brown de Sintomas Obsessivo-Compulsivos - Y-BOCS; Escala Dimensional para Avaliação de Presença e Gravidade de Sintomas Obsessivo-Compulsivos DY-BOCS; Escala de Avaliação Global de Tiques desenvolvida pelo Yale Child Study Center - YGTSS. Foi considerado TOC de início precoce se os sintomas dos pacientes tiveram início até os 10 anos de idade (160 pacientes). Os pacientes com início de sintomas entre 11 e 17 anos (95 pacientes) foram denominados grupo intermediário, enquanto aqueles após os 17 anos foram chamados grupo de início tardio (75 pacientes). Resultados: os pacientes do GP se diferenciaram dos pacientes do GT por apresentar maior freqüência do sexo masculino; maior freqüência de história familiar de SOC em familiares de primeiro grau; maiores escores da escala Y-BOCS para compulsões e Y-BOCS total; maior chance de ter obsessões de contaminação; maior chance de ter compulsões de repetição, colecionismo, diversas e compulsões do tipo tic-like; menor chance de ter compulsões de contagem; maior chance de apresentar sintomas da dimensão de \"colecionismo\"; maior gravidade nas dimensões de \"agressão/violência\", \"diversas\" e escore global da escala DY-BOCS; maior número médio de comorbidades; maior probabilidade de ocorrência de transtorno de ansiedade de separação, fobia social, transtorno dismórfico corporal e transtorno de tiques; menor chance de apresentar transtorno de estress pós-traumático; e maior chance de ter redução de 35% dos sintomas na escala Y-BOCS. O GP com tiques se diferenciou do GP sem tiques por apresentar maior prevalência de fenômenos sensoriais; menor chance e menor gravidade de ter a dimensão de \"contaminação/limpeza\" e menor gravidade no escore global da escala DY-BOCS; menor chance de apresentar transtorno de humor, transtorno unipolar, transtornos ansiosos, fobia social e skin picking, e maior a chance de apresentar diminuição de 35% dos sintomas na escala Y-BOCS. Os resultados sugeriram que as diferenças encontradas entre os grupos precoce, intermediário e tardio foram devidas à própria idade de início, e outras diferenças foram devidas à presença de tiques.
Introduction: Obsessive-compulsive disorder (OCD) is recognized as a heterogeneous condition. This heterogeneity obscures the interpretation of the results of the studies. The description of more homogeneous groups of patients can facilitate the identification of this search, since it can identify phenotypes that are hereditary and valid to the genetic point of view. Categorical and dimensional approaches are recognized strategies for the identification of more homogeneous subgroups of patients. Regarding the categorical approach, the subgroup of patients with early age at onset of the obsessive-compulsive symptoms (OCS), and the tic-related-OCD subgroup present similar clinical characteristics, with evidences of an overlap of these characteristics between the two groups. The aims of this study were: to investigate clinical and demographic characteristics of the early age at onset subgroup (EO), compared to the late onset subgroup (LO); and to investigate demographic and clinical characteristics of early age at onset OCD patients, with and without comorbid tic disorders. Methodology: Three hundred and thirty patients with the diagnosis of OCD according to the DSM-IV were directly assessed with the following instruments: Structured Clinical Interview for DSM-IV Axis I Disorders-patient edition - SCID-I/P; Yale-Brown Obsessive-Compulsive Scale - Y-BOCS; Dimensional Yale-Brown Obsessive-Compulsive Scale - DY-BOCS and Yale Global Tics Severity Scale - YGTSS. We considered early age at onset when OCS began before the age of 10 (160 patients). Patients with age at onset between 11 and 17 years old were termed intermediate group (95 patients), whereas those with age at onset after 17 years old were designated as late onset OCD (75 patients). Results: EO patients differed from LO patients in terms of presenting higher frequency of the male gender; higher frequency of a family history of OCS; higher Y-BOCS for compulsions and total Y-BOCS scores; higher chance of presenting contamination obsessions, repeating, hoarding, miscellaneous and tic-like compulsions; lower chance of having counting compulsions; higher probability of presenting symptoms of \"hoarding\" dimension; higher severity in \"aggression/violence\" and \"miscellaneous\" dimensions and global DY-BOCS scale score; higher mean number of comorbidities; higher probability of presenting separation anxiety disorder, social phobia, body dysmorphic disorder and tic disorders; lower chance of presenting posttraumatic stress disorder; and a higher chance of having a 35% reduction on the Y-BOCS scale. The EO subgroup with tic disorders differed from the EO without tics for presenting higher chance of having sensory phenomena, somatic obsessions; lower chance and lower score in the DY-BOCS scale; lower chance of presenting mood disorder, depressive disorder, anxiety disorders, social phobia and skin picking; higher chance of having a 35% reduction on the Y-BOCS scale. Results suggested that the differences found among early, intermediated and late onset groups with early onset were secondary to the own age at onset, and other differences were secondary to the presence of tics.

Increasing numbers of children being referred for mental health services are exhibiting problematic behaviors that can be subsumed under the category of Disruptive Behavior Disorders. This study with its foundations in a post-positivist approach was designed to explore treatment effectiveness of cognitive behavioral intervention applied to adolescents at Oak Grove Institute, a residential treatment facility. This study hypothesized that Wexler's PRISM Model, with its integration of affect, would be instrumental in modifying disruptive behavior as measured at Oak Grove Institute. Although the small sample size precluded statistically significant findings, there were interesting results with respect to two dependant variables. Findings approached significance on measures of impulsivity and verbal aggression. That is, impulsivity and verbal aggression scores were lowered.

Transtornos psiquiátricos têm sido descritos com maior freqüência em pacientes com Coréia de Sydenham (CS) do que em pacientes com Febre Reumática(FR) sem CS. Os objetivos desse estudo forma o de verificar: se existe uma freqüência aumentada de transtornos psiquiátricos em pacientes com FR comparados a um grupo controle; se estes transtornos psiquiátricos apresentam freqüência aumentada em grupo de pacientes com Coréia de Sydenham, a manifestação da FR no Sistema Nervoso Central, comparado ao grupo de pacientes com FR sem CS; e, por fim, verificar a relação temporal entre o início destes diversos transtornos e o início da FR. Concluiu-se que a presença de FR está associada a uma maior freqüência de transtornos psiquiátricos, mesmo na ausência de CS. O TDHA e o TT, neste estudo, foram indicados como fatores de risco para o desenvolvimento de CS em pacientes com FR.
Psychiatric disorders have been described as more frequent in Sydenham’s Chorea patients SC) than in rheumatic fever without SC (RF). The aim of this study was to investigate it the prevalence of psychiatric disorders in RF is associated with the occurrence of SC. Furthermore, age of onset of the various symptoms was determined in order to clarify the temporal relationship between the presence of psychiatric symptoms and either rheumatic fever or Sydenham’s Chorea. Using semi-structured diagnostic interviews for DSM-IV and ratings scales, the authors assessed 22 SC patients, 20 RF patients and 20 pediatric controls. Statistical Analyses were performed using Pearson chi-square (Fischer’s exact test for 2x2 tables) for comparisons of categorial variables. Comparisons of continuous variables among groups were carried out using ANOVA and the Student t-test, when only groups were analyzed. In order to establish the risk for the development of SC and OCD given to presence of other co-morbid conditions, a logistic regression was applied. The level of significance adopted was 0.05. Both the SC and RF groups showed a greater prevalence of psychiatric disorders. The SC sample showed higher frequency of major depression disorder (MDD) (x2 = 19,1, df = 2, p = 0,00007), tic disorder (TD) (x2 = 21,1, df = 2, p = 0,00001) and attention-deficit hyperactivity disorder (ADHD) (x2-21,7, df = 2, p = 0,0002). Although Obsessive-Compulsive Disorder (OCD) was not statiscally higher in the SC and RF groups, Obsessive-Compulsive Symptoms were more frequent in both RF and SC groups compared to the controls (x2 = 7,3, df = 2, p = 0,025). The age of onset for both ADHD and TD predicted the risk for development of SC. The risk of development of OCD in SC children was also associated with the age of onset of ADHD. RF seems to confer increased risk to develop neuropsychiatric disorders even in patients without SC. In this sample, ADHD and TD was an important risk factor for the occurrence of co-morbid illnesses.

Este estudo avaliou 106 crianças e adolescents com TOC e 44 probandos controle. Estes probandos e seus 465 familiares de primeiro grau foram avaliados por entrevistadores treinados, usando entrevistas semi-estruturadas. Diagnósticos foram determinados pelo DSM-IV, pelo processo de estimativa de diagnóstico. Comparados aos "familiares controle", "familiares caso" tiveram risco significativamente aumentado para TOC (22.7% vs. 0.9%) e tiques (11.6% vs. 1.7%). Houve uma correlação significativa entre as idades de início do TOC nos probandos e seus familiares. Estes dados sugerem que o TOC de início precoce é um transtorno altamente familiar.
The current study examined 106 children and adolescents with OCD and 44 control probands. These probands and their 465 first-degree relatives were assessed by trained interviewers, using standardized semi-structured interviews. Diagnoses were assigned according to DSM-IV criteria, through the best-estimate process. Compared to control relatives, case relatives had higher age-corrected recurrence risks of OCD (22.7% vs. 0.9%) and tics (11.6% vs. 1.7%). There was a significant correlation between the ages of onset of OCD in probands and their affected relatives. These data suggest that childhood onset OCD is a highly familial disorder.

It has been suggested that psychosocial stress influences situational fluctuations of tic frequency. However, evidence from experimental studies is lacking. The current study investigated the effects of the Trier Social Stress Test (TSST-C) on tic frequency in 31 children and adolescents with tic disorders. A relaxation and a concentration situation served as control conditions. Patients were asked either to suppress their tics or to “tic freely.” Physiological measures of stress were measured throughout the experiment. The TSST-C elicited a clear stress response with elevated levels of saliva cortisol, increased heart rate, and a larger number of skin conductance responses. During relaxation and concentration, the instruction to suppress tics reduced the number of tics, whereas during stress, the number of tics was low, regardless of the given instruction. Our study suggests that the stress might result in a situational decrease of tic frequency.

It has been suggested that psychosocial stress influences situational fluctuations of tic frequency. However, evidence from experimental studies is lacking. The current study investigated the effects of the Trier Social Stress Test (TSST-C) on tic frequency in 31 children and adolescents with tic disorders. A relaxation and a concentration situation served as control conditions. Patients were asked either to suppress their tics or to “tic freely.” Physiological measures of stress were measured throughout the experiment. The TSST-C elicited a clear stress response with elevated levels of saliva cortisol, increased heart rate, and a larger number of skin conductance responses. During relaxation and concentration, the instruction to suppress tics reduced the number of tics, whereas during stress, the number of tics was low, regardless of the given instruction. Our study suggests that the stress might result in a situational decrease of tic frequency.

Syftet med studien är att undersöka hur lärare i fritidshem beskriver sina uppfattningar av att arbeta med elever med neuropsykiatriska funktionsnedsättningar (NPF). Utifrån syftet har två forskningsfrågor författats; Vilka faktorer uppfattar lärare i fritidshem avgörande i arbetet med neuropsykiatriska funktionsnedsättningar? Vilka möjligheter respektive svårigheter uppfattar lärare i fritidshem att det finns med att undervisa elever med NPF? Studien är kvalitativ och har använt fokusgruppsintervjuer som metod för att samla in de kvalitativa data som har utgjort resultatet. Vidare har kvalitativa data analyserats genom att de har ljudinspelats och transkriberats. Dataanalysen har ägt rum genom den tematiska analysmodellen Framework där data har sammanställts med hjälp av teman som elever med NPF, inkludering, extra anpassningar, planering, miljö, möjligheter och svårigheter. Dessa teman utgör sedan utgångspunkten i presentationen av resultatet. I resultatet framgår det att de faktorer som är avgörande i arbetet med elever med NPF är hur en lärare planerar, genomför och anpassar sin undervisning samt hur miljön är utformad för att elever ska kunna erbjudas rätt förutsättningar till stimulering, utveckling och lärande samt att de ska få en känsla utav tillhörighet och gemenskap. Vidare beskrivs många svårigheter och möjligheter i arbetet med elever med NPF. De svårigheter som framgår är utifrån de centrala områden som nämns ovan. Något som betonas är att det råder en stor resursbrist i fritidshemsverksamheten. Mer resurser skulle vara en stor bidragande faktor för att skapa ytterligare möjligheter i arbetet med planering, genomförande etc. Avslutningsvis framhävs det att det finns ett stort behov av fortbildning där lärare ges möjlighet att införskaffa samt fördjupa sin kompetens i arbetet med elever med NPF.

Missbruk av narkotika är idag ett växande samhällsproblem och människor med diagnosen ADHD verkar enligt forskning vara en särskild riskgrupp. Syftet för denna studie var att samla in tidigare  forskning på området för att redogöra för på vilka sätt användning och missbruk av narkotikaklassade substanser verkar korrelera med ADHD. Detta för att öka förståelsen och medvetenheten hos socialarbetare och andra professioner som jobbar inom missbruksvården. Genom en innehållsanalys som studiens resultat baseras på och genom en kombination av teoretiska perspektiv i form av radikal teori, psykodynamisk teori samt systemteori framkom olika fakta och perspektiv. Bland annat indikerar resultatet att en måttlig ökning av risk att börja missbruka narkotika verkar finnas hos personer med ADHD men att det finns skäl att utgå utifrån ett omfattande helhetsperspektiv. Både psykologiska faktorer som ofta grundas i barndomen samt sociala och miljömässiga aspekter verkar vara av betydelse. Skolan verkar ha en viss betydelse redan från grundskolan och ända upp på universitetsnivå. Dessutom verkar en kombination av flera diagnoser eller beteendestörningar utöver ADHD-diagnosen tendera att öka risken för missbruk hos en del individer. Insatser av preventiv typ verkar vara en fråga för framtiden så som att lättare kunna upptäcka människor som på olika sätt är i riskzonen. Mer forskning på området verkar behövas.

2019-09-23

Les dernières avancées dans le domaine de l'imagerie par résonance magnétique permettent aujourd'hui de mieux comprendre l'anatomie et le fonctionnement du cerveau humain. L'IRM s'avère d'ailleurs aujourd'hui un outil clé pour la recherche de biomarqueurs d'imagerie dans la plupart des pathologies cérébrales. Nous nous sommes intéressés dans le cadre de cette thèse à l'étude de la connectivité anatomique des noyaux gris centraux, structures impliquées dans de nombreuses boucles cortico-sous-cortico-corticales, et dont l'atteinte est à l'origine de troubles moteurs à l'instar de la maladie de Huntington, du syndrome Gilles de la Tourette et de la maladie de Parkinson. Nous avons pour cela effectué plusieurs développements méthodologiques qui permettent de segmenter les noyaux gris centraux et d'inférer leur connectivité anatomique. Tout d'abord, nous avons développé une méthode de segmentation des noyaux gris centraux à partir de différents contrastes et capable de s'adapter à des cas pathologiques présentant une forte modification de ces structures. Ensuite, nous avons développé des méthodes robustes d'analyse et de sélection des fibres reliant les différentes structures cérébrales, obtenues à l'aide de méthodes de tractographie par IRM du processus de diffusion cérébrale. Ces nouvelles méthodes de sélection présentent l'avantage de tenir compte d'a priori anatomiques, et fournissent ainsi des résultats plus proches de la réalité que les résultats obtenus dans la littérature. Nous avons également développé une méthodologie permettant de construire des cartes de connectivité surfaciques afin de projeter les connexions des noyaux gris centraux sur la surface corticale et de comparer le profil de connectivité corticale des noyaux gris au sein d'une population et entre populations. Enfin, nous avons utilisé ces outils pour étudier les modifications putatives de la connectivité anatomique des noyaux gris centraux dans la maladie de Huntington et dans le syndrome Gilles de la Tourette.

Le terme « tiqueur » est utilisé pour alléger le texte, et ce, sans préjudice.
Les tics sont des manifestations motrices ou phoniques, involontaires, soudaines, rapides, stéréotypées, non rythmiques et répétitives (Bloch & Leckman, 2009). Selon la cinquième version du manuel diagnostique et statistique des troubles mentaux (DSM-5), le Syndrome Gilles de la Tourette (SGT) inclut la présence de tics moteurs multiples associés à au moins un tic phonique se manifestant plusieurs fois par jour, depuis plus d'un an (APA, 2013). Lorsqu’au moins un tic moteur ou phonique existe de façon isolée depuis au moins un an, le diagnostic de Trouble de tics chroniques est plutôt envisagé (TTC). Plusieurs études ont permis de montrer une similarité entre le SGT et le TTC du point de vue des comorbidités, ainsi que des variables neuropsychologiques et psychosociales associées (Spencer & al., 1995; Shapiro & Shapiro, 1982). Ainsi, plusieurs auteurs suggèrent que le TTC constitue une forme moins sévère du SGT (Jedynak, 2004). Les effets néfastes associés aux tics chroniques sur la vie sociale, scolaire ou professionnelle sont suffisamment bien documentés dans la littérature scientifique (Cavanna, Servo, Monaco & Robertson, 2009; Robertson, 2006; Thibert, Day & Sandor, 1995). Les thérapies cognitivo-comportementales (TCC) représentent une bonne alternative à la médication dont les effets secondaires peuvent parfois être très incommodants. Toutefois, ces dernières montrent un taux d’efficacité très variable, de 30 % à 67 % selon les études (Verdellen, Van de Griendt, Hartmann & Murphy, 2011; Piacentini & al., 2010; O’Connor et al., 2015, 2008, 2005a, 2005b, 2001, 1997a, 1997b, 1997c). Pour cette raison, plusieurs auteurs ont tenté de prédire le taux de réussite thérapeutique associé à une TCC par une série de facteurs neuropsychologiques afin de trouver un élément d’explication à ces variations. La plupart s’accordent pour dire que le taux de réussite d’une TCC dépend du fonctionnement exécutif, et notamment des capacités d’inhibition et de flexibilité cognitive. Les participants ciblés par cette étude sont des adultes âgés entre 18 et 50 ans souffrants d’un SGT ou d’un Trouble de tics chroniques (n = 92), comparés à des participants sans problème psychiatrique ou neurologique (n = 56). La cueillette de données s’est effectuée au Centre d’Étude sur les Troubles Obsessionnel-Compulsif et les Tics (CÉTOCT), entre 2003 et 2013. L’objectif du premier volet de cette étude visait à comparer les capacités d’inhibition et de flexibilité cognitive chez un groupe de participants atteints de tics chroniques et un groupe de participants neurotypiques (groupe témoin). D’autre part, l’objectif du deuxième volet visait à mesurer les capacités d’inhibition et de flexibilité cognitive chez deux sous-groupes de participants : un sous-groupe ayant fortement réussi une Thérapie Cognitivo-Comportementale (TCC) pour les tics chroniques et un autre ayant faiblement réussi. Les résultats obtenus montrent que les participants atteints de tics chroniques présentent, de façon significative, de plus faibles capacités d’inhibition et de flexibilité cognitive qu’un groupe témoin. Toutefois, seules les capacités de flexibilité cognitive permettent de prédire significativement le taux de réussite thérapeutique associé à une TCC pour les tics chroniques.
Tics are involuntary motor movements or vocalizations which are sudden, rapid, stereotyped, non-rhythmic and repetitive (Bloch & Leckman, 2009). According to the fifth edition of the Diagnostic and statistical manual of mental disorders (DSM-5), Tourette’s Disorder (TD) includes multiple motor tics and at least one vocal tic that can be observed multiple times every day for more than a year (APA, 2013). When at least one motor or vocal tic can be observed for at least a year, Chronic Tic Disorder (CTD) is diagnosed instead. Multiple studies show similarities between TD and CTD for comorbidities as well as associated neuropsychological and psychosocial variables (Spencer & al., 1995; Shapiro & Shapiro, 1982). Many authors suggest that CTD is actually a milder form of TD (Jedynak, 2004). The harmful effects of chronic tics on social, academic or professional life are extensively documented in the scientific literature (Cavanna, Servo, Monaco & Robertson, 2009; Robertson, 2006; Thibert, Day & Sandor, 1995). Cognitive-behavioral therapies (CBT) represent an alternative to medications whose side effects can sometimes be incapacitating. However, their success rate is highly variable, from 30% to 67% depending on the study (Verdellen, Van de Griendt, Hartmann & Murphy, 2011; Piacentini & al., 2010; O’Connor et al., 2015, 2008, 2005a, 2005b, 2001, 1997a, 1997b, 1997c). For this reason, many authors tried to predict the therapeutic success rate by using a series of neuropsychological factors in order to explain these variations. The general consensus is that the success rate of a CBT depends on executive functioning, notably on inhibition and cognitive flexibility. Participants in this study are adults aged 18 to 50 suffering from TD or CTD (n = 92) who are compared to participants without a diagnosed psychiatric or neurological disorder (n = 56). The data was collected at the Centre d’Étude sur les Troubles Obsessionnels-Compulsifs et les Tics (CÉTOCT) between 2003 and 2013. The objective of the first part of this study was to compare the inhibition and cognitive flexibility of a group of participants with chronic tics and a group of neurotypical participants (control group). On the other hand, the aim of the second component was to measure inhibition and cognitive flexibility in two subgroups of participants : a subgroup that strongly succeeded in Cognitive Behavioral Therapy (CBT) for chronic tics and another with weak success. The results showed that participants with chronic tics had significantly lower inhibition and cognitive flexibility than a control group. However, only cognitive flexibility can significantly predict the therapeutic success rate associated with CBT for chronic tics.

Tourette syndrome (TS) and obsessive-compulsive disorder (OCD) are two comorbid and heterogenous neuropsychiatric disorders that are both characterized by repetitive, stereotyped pathological behaviors, which are generally preceded by intrusive, unwanted sensations, impulses, or thoughts. Disturbances in cortico-basal ganglia-thalamo-cortical (CBGTC) loops and in distinct neuromodulatory systems have long been implicated in both TS and OCD, but a clear mechanistic understanding of how such disturbances relate to the pathophysiology of TS and OCD is far from attained. Such lack of mechanistic understanding partially explains why standard treatments result in a moderate, at best, reduction of symptom severity for most patients with TS and/or OCD. Motivated by extant pitfalls on the understanding and clinical management of TS and OCD, by the fact that dopaminergic and serotonergic disturbances have long been strongly implicated in TS and OCD, respectively, and by the fact that dopamine antagonists and serotonin reuptake inhibitors (SRIs) are the most efficacious treatments in TS and OCD, respectively, during my PhD, I aimed to assess computationally how dopaminergic and serotonergic disturbances are respectively implicated in TS and OCD. This thesis is therefore divided into three main parts: a comprehensive introduction to TS, OCD, and some of the computational approaches that have been applied to each of these disorders (Chapters 1–3), an overview of our work on TS (Chapters 4–6), and a comprehensive description of our work on OCD and OCD-like [obsessive-compulsive (OC)] manifestations (Chapters 7–8). Our work on TS is divided in three main subparts, which have been published in three distinct reviews. Briefly, we have shown that, from extant hypothesis on dopaminergic disturbances on TS, the hypothesis that TS involves dopaminergic hyperinnervation—that is, an increased number of dopaminergic terminals—provides an integrated account of all neuroimaging studies that have assessed the functioning of the dopaminergic system in TS, in addition to explaining why all medications with proven efficacy in TS reduce dopaminergic neurotransmission (Chapter 4). We have then shown, using computational models, that increases in striatal phasic and tonic dopamine—predicted under dopaminergic hyperinnervation—likely promote tic learning and expression (Chapter 5). Finally, we have expanded our computational account to explain mechanistically how premonitory urges, the aversive sensations that typically precede and are ceased by tics, may drive tic learning and expression in TS. Simultaneously, we have identified possible neural correlates of such computations, by comprehensively reviewing structural and functional neuroimaging studies on TS. We have specifically implicated the somatosensory cortices in premonitory urges, the insula in both premonitory urges and tic learning, and the motor CBGTC loop in both tic learning and expression (Chapter 6). In doing so, we have provided an integrated, mechanistic account of the two key aspects of TS: tics and premonitory urges. Our work on OCD is divided in two main subparts, which are yet unpublished. Similar to what we did in TS—where we have comprehensively reviewed all neurochemical studies on the dopaminergic system—I have reviewed neurochemical, and complementary animal-model, studies on the serotonergic system in OCD. Contrary to TS, however, the review on OCD was brief and far from comprehensive (Chapter 7). Such review indicated, nonetheless, that increased pre- and post-treatment serotonin levels were both associated with better treatment-outcome in patients with OCD. More speculatively, but in line with extant literature (including prior work from our lab), such review suggested that there could be a causal association between suboptimal (orbitofrontal) serotonin levels and obsessive-compulsive (OC) manifestations, including those from patients with OCD (Chapter 7), with the suboptimal serotonin levels of (some) patients with OCD possibly being driven by serotonergic hypoinnervation. While fully testing the latter hypothesis during my PhD would be (nearly) impossible, because it would require us to perform a longitudinal assessment of patients with OCD, we aimed at investigating two related topics: the modulation of state inference—that is, the learning about, and switching between, hidden, or partially observable, states (or contexts)—by serotonin and the association between such inference and OC traits (Chapter 8). We specifically chose to study state inference because (1) patients with OCD present considerable anatomical and functional disturbances in several regions from the limbic CBGTC loop, among which the orbitofrontal cortex (OFC), which is both strongly modulated by serotonin and strongly implicated in state inference, and, more importantly, because (2) impaired (orbitofrontal-serotonin-mediated) state inference seems to explain multiple OC traits. To study the association between state inference and both serotonin levels and OC traits, we assessed the effects of acutely administering the selective serotonin reuptake inhibitor (SSRI) escitalopram to adults with different severities of OC traits, by conducting a double-blind, placebo-controlled study. In that original study (whose first manuscript is currently under preparation; Chapter 8), we applied a novel reversal-learning task, which we developed, to 50 adult men. In reversal-learning tasks, (stimulus-specific) action-outcome contingencies are changed in a discrete, partially observable, or hidden, fashion throughout the task; thus, subjects need to quickly adapt their behavior according to (hidden-)state changes to attain good performance. Such reasoning makes reversal-learning tasks theoretically ideal to study state inference; however, in practice, there are multiple factors that need to be considered so that such tasks are suitable to analyze state inference. Previously developed reversal-learning tasks did not disentangle, for example, state learning from lower-order state-response learning—which corresponds to classical stimulus-response (S-R) learning when states are uniquely determined by the respective observable stimuli—which is necessary to assess state learning mechanistically. Therefore, we developed our novel reversal-learning task so that it orthogonalized, precisely, those two processes. To maximize the amount of biologically relevant information that we could extract from the acquired reversal-learning behavioral data, we fitted the data of each individual subject using several CBGTC-inspired reinforcement-learning (RL) models, which we compared using state-of-the-art model-comparison techniques. We specifically implemented two types of RL models: simple S-R learning models (Q-learning models) and extensions of those S-R models that also included higher-order state learning, which we developed for this study (Belief Q-learning models). Bayesian model comparison between the implemented models showed that a single Belief Q-learning model could be confidently selected, indicating that subjects had performed state learning (and state switching) while solving our reversal-learning task, irrespective of their medication status. We then analyzed the biologically relevant variables that we had estimated for each subject using the selected Belief Q-learning model, to inspect the associations between state inference and both serotonin levels and OC traits. We considered that subject-specific escitalopram plasma levels would be associated with the respective increases in (orbitofrontal) serotonin levels and that the subjects’ scores on the Obsessive-Compulsive Inventory – Revised (OCI–R), which is a well-validated neuropsychological questionnaire, would be a proxy for their severity of OC traits (Chapter 8). Briefly, we showed that, during the first session of our study, state-inference performance was both negatively associated with the severity of OC traits and facilitated by escitalopram (with higher escitalopram levels, which should lead to bigger increases in cortical extracellular serotonin levels, leading to bigger improvements in state learning; Chapter 8). By simultaneously demonstrating the latter two associations, our work provided a new perspective on the possible mechanisms underlying OC traits. Indeed, while OC traits had been previously associated with cognitive inflexibility, OC traits had never been specifically associated with impaired state inference, the process which we had hypothesized to underlie both OC traits and the so-called cognitive inflexibility during reversal-learning and other behavioral tasks. The latter and several other implications of our empirical work are comprehensively discussed in the last chapter of this thesis (Chapter 9). There, I discuss additionally the possibility that TS and OCD lie within a dopaminergic hyperinnervation/serotonergic hypoinnervation continuum, in which patients with TS and/or OCD may express both these abnormalities to different degrees—a hypothesis that emerged from the review work mentioned above. I do so because such hypothesis, besides broadly consistent with the neuroimaging and pharmacological data from patients with TS and/or OCD, seems to partially explain (and/or be explained by) the comorbidity and genetic relation between TS and OCD (Chapter 9).
A síndrome de Tourette (ST) e a perturbação obsessivo-compulsiva (POC) são duas doenças neuropsiquiátricas heterogéneas e comórbidas que se caracterizam pela manifestação de movimentos patológicos repetitivos e estereotipados, os quais são geralmente precedidos por sensações, impulsos, ou pensamentos intrusivos e/ou indesejados. Há muito que se sabe que a ST e a POC estão associadas a perturbações em diferentes neuromoduladores e em diferentes regiões dos circuitos dos gânglios da base, mas um conhecimento mecanístico (ou, mais precisamente, computacional) de como essas perturbações estão especificamente relacionadas com a ST e a POC parece ainda distante. Essa falta de conhecimento ajuda a explicar o porquê de, para a maioria dos doentes com ST e/ou POC, os tratamentos recomendados levarem apenas a uma redução moderada da severidade dos sintomas. Devido às dificuldades acima mencionadas, e ao facto de há muito se saber que perturbações dopaminérgicas e serotonérgicas estão fortemente envolvidas na ST e na POC, nas quais as medicações mais eficazes são respetivamente antagonistas da dopamina e inibidores da recaptação de serotonina, estabeleci como objetivos para o meu doutoramento caraterizar computacionalmente os papéis de perturbações dopaminérgicas e serotonérgicas na ST e POC, respetivamente. A minha tese encontra-se, como tal, dividida em três partes principais: uma introdução à ST e à POC, bem como às abordagens computacionais que têm vindo a ser usadas no seu estudo (Capítulos 1–3); uma revisão do trabalho que desenvolvemos no estudo da ST (Capítulos 4–6); uma descrição detalhada do trabalho que desenvolvemos no estudo da POC e de manifestações obsessivo-compulsivas (OCs) relacionadas (Capítulos 7– 8). O nosso trabalho na ST encontra-se dividido em três subpartes, cada uma das quais já está publicada sob a forma dum artigo de revisão. Resumidamente, no decorrer do meu doutoramento, mostrámos que das hipóteses existentes sobre o envolvimento da dopamina na ST, a hipótese de que existe hiperinervação dopaminérgica—isto é, um aumento do número de terminais dopaminérgicos—é a hipótese com maior poder explicativo. De facto, essa hipótese parece explicar, não só os resultados obtidos em estudos de neuroimagem do sistema dopaminérgico na ST, como também o porquê de todas as medicações com eficácia provada na ST reduzirem, de alguma forma, a neurotransmissão dopaminérgica (Capítulo 4). Mostrámos também, através de um modelo computacional do circuito motor dos gânglios da base, que aumentos na dopamina fásica e tónica—previstos pela existência de hiperinervação dopaminérgica—promovem, muito provavelmente, a aprendizagem e execução de tiques. Nesse contexto, mostrámos ainda como a aprendizagem e execução de tiques são, muito provavelmente, diferentemente afetadas por diferentes tipos de medicação (Capítulo 5). Por fim, expandimos o nosso modelo computacional de forma a explicar como as urgências premonitórias—as sensações aversivas que tipicamente precedem e são terminadas pela execução de tiques—podem conduzir à aprendizagem e execução de tiques. Simultaneamente, identificámos possíveis substratos neuronais das computações do modelo proposto, através de uma revisão detalhada dos estudos de neuroimagem estrutural e funcional existentes. Especificamente, identificámos os córtices somatossensoriais e a ínsula como possíveis substratos neuronais das urgências premonitórias, a ínsula e o circuito motor dos gânglios da base como regiões chave na aprendizagem de tiques, e, em completo acordo com a literatura existente, o circuito motor como chave na execução de tiques (Capítulo 6). O nosso trabalho na POC, por sua vez, encontra-se dividido em duas subpartes, as quais estão ainda por publicar. Primeiramente, revi todos os estudos de neuroimagem que avaliaram o sistema serotonérgico na POC e os estudos que analisaram o sistema serotonérgico em modelos animais da POC (Capítulo 7). Embora essa revisão tenha sido mais sucinta que a feita relativamente ao sistema dopaminérgico na ST, tal revisão revelou que o tratamento “eficaz” dos doentes com POC está fortemente associado à existência de um aumento dos níveis serotonérgicos como consequência direta do tratamento, bem como à existência de maiores níveis serotonérgicos pré-tratamento. De uma forma mais especulativa, essa revisão apontou ainda para a existência de uma associação causal entre níveis de serotonina subótimos, nomeadamente no córtex orbitofrontal (COF)—na POC, possivelmente devido à existência de hipoinervação serotonérgica—e a manifestação de sintomas OCs (Capítulo 7), dando dessa forma continuidade ao trabalho anterior do nosso grupo de investigação. Enquanto que testar esta última hipótese no decorrer do meu doutoramento seria (praticamente) impossível, dado que exigiria que conduzíssemos um estudo longitudinal em doentes com POC (ou, pelo menos, em sujeitos com manifestações OCs consideráveis), investigámos dois tópicos relacionados: (1) a modulação da inferência sobre estados latentes—isto é, a modulação da aprendizagem sobre, e alternância entre, estados (ou contextos) parcialmente, ou não, observáveis—pela serotonina e (2) a associação entre essa mesma inferência e a severidade de manifestações OCs (Capítulo 8). A escolha desses dois tópicos deveu-se ao facto dos doentes com POC apresentarem fortes perturbações estruturais e funcionais no circuito límbico dos gânglios da base, incluindo no COF, o qual apresenta um papel fulcral na inferência sobre estados latentes e é fortemente modulado pela serotonina, e ao facto de perturbações na inferência sobre estados latentes parecem explicar muitos dos sintomas da POC (como detalhado no Capítulo 8). Para estudar os dois tópicos acima referidos, efetuámos um estudo neurocomportamental (cujo primeiro artigo respetivo se encontra agora a ser finalizado; Capítulo 8), no qual administrámos quer um inibidor seletivo da recaptação de serotonina (ISRS), o escitalopram, quer um placebo, a 50 homens sem POC mas com manifestações OCs de diferentes severidades, ao longo de duas sessões. Nesse estudo, a administração do ISRS foi feita de um modo randomizado e “oculto” (isto é, sem que nós ou os participantes do estudo soubéssemos se a droga a ser administrada numa determinada sessão era o ISRS ou o placebo), e os efeitos da administração do ISRS foram estudados através da aplicação duma nova tarefa de aprendizagem reversa (reversal learning) que desenvolvemos. Nas tarefas de aprendizagem reversa existem associações (probabilísticas) entre um certo conjunto de ações e de reforços, as quais são específicas para as pistas, ou estímulos, que são apresentados previamente à execução dessas mesmas ações. Essas associações, que não são diretamente observáveis pelos sujeitos (e têm como tal de ser aprendidas), são alteradas, de uma forma discreta, ao longo da tarefa. Assim sendo, um bom desempenho por parte dos sujeitos em tarefas de aprendizagem reversa encontra-se dependente do facto dos sujeitos conseguirem adaptar rapidamente o seu comportamento no seguimento das alterações (não observáveis, mas inferíveis) dos estados dos estímulos. Na teoria, as tarefas de aprendizagem reversa são, como tal, ideais para estudar a inferência sobre estados latentes. Existem, no entanto, múltiplos fatores que têm de ser considerados para que tal estudo seja efetivamente possível. Nomeadamente, é fulcral ortogonalizar a aprendizagem de estados latentes da aprendizagem, por tentativa e erro, das associações estado-resposta que maximizam os reforços a serem obtidos (as quais são designadas de estímulo-resposta quando um estado é completamente determinado pelo estímulo respetivo). A nossa tarefa foi desenvolvida precisamente com base neste raciocínio. Para extrair o máximo de informação possível dos dados comportamentais recolhidos, ajustámos diversos modelos computacionais inspirados na biologia a esses mesmos dados, tendo subsequentemente comparado os modelos ajustados através de sofisticadas técnicas estatísticas. Através desses passos, mostrámos que um único modelo computacional, que implementava quer aprendizagem sobre estados latentes quer aprendizagem de associações estado-resposta, explicava melhor os dados recolhidos que todos os outros modelos (alguns dos quais apenas implementavam aprendizagem de associações estímulo-resposta). Mostrámos ainda que a seleção desse modelo não era dependente da droga ingerida pelos participantes, uma vez que quer os participantes sob o efeito do escitalopram quer os participantes sob o efeito do placebo aprenderam sobre os estados latentes da tarefa. Por fim, mostrámos, através da análise das variáveis computacionais estimadas para cada participante, que, na primeira sessão: (1) uma maior absorção de escitalopram (quantificada através dos níveis de escitalopram no plasma) estava associada a uma facilitação da aprendizagem sobre estados latentes, em linha com o facto de uma maior dose de um ISRS estar associada a um maior aumento dos níveis corticais extracelulares de serotonina; (2) uma maior severidade de manifestações OCs (quantificada através da pontuação num questionário de autorrelato bem validado, o OCI-R) estava associada a uma maior dificuldade na inferência dos estados latentes. Devido à enorme concordância entre as nossas hipóteses pré-estabelecidas e os resultados obtidos no estudo empírico acima mencionado, acredito que o nosso trabalho forneceu um importante contributo para a melhor compreensão dos mecanismos envolvidos em certas manifestações OCs. Acredito ainda que as hipóteses da ST e da POC estarem respetivamente associadas a hiperinervação dopaminérgica e hipoinervação serotonérgica (as quais foram também baseadas nos nossos trabalhos de revisão) são assinaláveis. Estas e outras considerações estão discutidas no último capítulo desta tese, onde o possível contínuo entre a ST e a POC ao nível das hiper- e hipoinervações acima referidas se encontra também ele discutido com algum detalhe, devido a tal contínuo parecer explicar parcialmente a (ou ser explicado pela) comorbidade e relação genética entre estas duas doenças (Capítulo 9).

Purpose: To investigate and characterize sensory sensitivity in Tourette syndrome (TS) through an evaluation of behaviour, perception and processing of tactile stimuli in children with TS and co-morbid Attention Deficit Hyperactive Disorder (ADHD) compared to typically developing controls (TDC). Methods: Somatosensory evoked P3 potentials were recorded in TS+ADHD and in TDC children aged 6-12 and compared at midline electrodes. Reported sensory sensitivity was measured using the Sensory Profile, while Semmes-Weinstein filaments were used to determine tactile threshold in the same area stimulated during P3 testing. Results: 13 TS+ADHD and 12 TDC were studied. TS+ADHD children reported significantly higher sensory sensitivity (p=.001) and demonstrated a significantly lower tactile threshold (p=.027) than TDC. Furthermore, the amplitude of electrophysiological responses to repetitive tactile stimuli was significantly larger in TS+ADHD (p=.0009). Conclusion: TS+ADHD children are significantly more sensitive to tactile stimulation than controls. ERP differences suggest that central processing alterations could mediate sensory hypersensitivity.

M.A. (Counselling Psychology)
The treatment of learning- and associated socio-emotional problems as found in ADHD has long been researched and practiced. The treatment still doesn't seem 100% effective since it helps in some cases but worsens effects in others. The literature aroused the possibility that other disorders could occur under the same behavioural symptoms as displayed in ADHD. One of these is Tourette's disorder ...

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.

碩士
玄奘大學
應用心理學系碩士在職專班
107
The purpose of this study is to explore whether the “Understanding Mental disorder - Tourette syndrome” curriculum has the effect of improving the attitudes of elementary school students toward mental disorder. In this study, the participants were senior students from the elementary school in Hsinchu. There were 101 students in experiment group taking the eighty-minute designed curriculum while 23 students in control group taking the traditional health curriculum. The researcher adopted quasi-experimental and pretest-posttest design to deal with each of the group. The pretest-posttest data from Attitudes toward Mental Illness (AMI) scale were used to have quantitative data analysis and the self-editing worksheets were for qualitative data analysis. The conclusions are listed below: 1. “Understanding Mental disorder - Tourette syndrome” curriculum is better than traditional curriculum for the students to have better improvement in cognition of mental disorder. 2. The curriculum could ameliorate students’ discrimination toward mental disorder. 3. The students’ attitudes toward the picture book of Tourette syndrome curriculum are generally positive. Therefore, “Understanding Mental disorder - Tourette syndrome” curriculum could help the students to have positive or amiable attitudes toward the people with mental disorder. It is suggested that schools could implement the mental disorder related curriculum in the future on the purpose of making students having correct attitude toward the patients.

Among some researchers, there is an emerging conceptualization of chronic tic disorders (CTDs) as conditions that are partially rooted in avoidance of tic-related private experiences (i.e., painful or difficult thoughts and feelings) and internal sensations (i.e., premonitory urges to tic). The first specific aim of the present research was to investigate the possibility that experiential avoidance is related to tic severity and perceived quality of life in individuals with CTDs. The second aim was to determine whether the efficacy of Habit Reversal Training (HRT), the most prevalent and effective behavioral intervention for CTDs to date, might be enhanced by combining it with Acceptance and Commitment Therapy (ACT), an intervention that directly targets experiential avoidance. These aims were addressed by conducting two related studies. Study I, an online survey, included 239 adults (M = 37.6 years; SD = 13.8 years) who reported having been previously diagnosed with a CTD. Results showed that levels of premonitory urges, as well as both general and tic-specific experiential avoidance, were significantly positively related to tic severity. General and tic-specific experiential avoidance were also significantly negatively related to perceived quality of life. Psychometric analyses of two novel measures developed for Study I (i.e., the Yale Global Tic Severity Scale-Self-Report Version and the Acceptance and Action Questionnaire-Tic-Specific Version) demonstrated excellent internal consistency and convergent validity. Study II, a multi-site pilot investigation, involved 13 adolescents (M = 15.4 years; SD = 1.3 years) who were treated with either HRT alone or a novel HRT+ACT intervention. Results suggest that the HRT+ACT treatment is feasible, highly acceptable to both patients and parents, and as effective as HRT alone at reducing tic severity from pre-treatment through week 22 follow-up. Participants in both groups reported clinically significant post-treatment decreases in general and tic-specific experiential avoidance and improvements in overall functioning. Researchers concluded that experiential avoidance plays an important role in tic expression and overall functioning for individuals with CTDs. Results support additional development and testing of the promising HRT+ACT intervention, to evaluate its efficacy alone and in comparison to other relevant psychosocial and pharmacological interventions.

Dissertation

Summaries in Afrikaans and English
Text in Afrikaans
Tourettesindroom is 'n lewenslange versteuring wat gekenmerk word deur motoriese en vokale trekkings saam met moontlik ook komorbiede simptome soos aandagtekort-hiperaktiwiteitsversteuring, obsessief-kompulsiewe versteuring, aggressie en depressie. Die sindroom kom in hoe mate in Suid-Afrika voor en die pastor kan dus heel moontlik daarmee te doen kry. Die beste behandeling vir die sindroom is medikasie saam met gedrags- en gesinsterapie toegedien deur 'n multidissiplinere span. Die pastor het 'n rol om te vervul in hierdie span probleme het aangesien persone met Tourettesindroom dikwels in hulle verhoudings met God, hulleself en ander mense. Vir effektiewe pastorale berading aan sodanige persone, moet die pastor deeglike kennis he van die sindroom en die simptome daarvan, asook van sy of haar invalshoek as pastor. 'n Moontlike kernmoment van die sindroom wat deur die pastor aangespreek kan word, is die verlies aan beheer wat deur dje lyer ervaar word. Die sindroom kan as 'n verskoning gedrag en gebruik word vir negatiewe en onverantwoordelike die pastor sal die lyer dus moontlik eties moet konfronteer op 'n medemenslike wyse.
Tourette Syndrome is a lifelong disorder. Symptoms are motoric and vocalic tics with possible comorbid symptoms such as attention deficit disorder with hyperactivity, obsessive-compulsive disorder, and depression. It is frequent among South Africans and the pastor will probably be confronted with persons struggling with the syndrome. The best therapy for Tourette Syndrome is medication in conjunction with behaviour and family therapy administered by a multi-disciplinary team. Persons with Tourette Syndrome have problems maintaining relationships with God, themselves and others. The pastor therefore has a definite role to play in the team. Knowledge of the syndrome and its symptoms, and of pastoral care are essential for succesful pastoral counseling. A possible central theme of the syndrome is the loss of control experienced by the person with the syndrome. The syndrome can become an excuse for negative and irresponsible behaviour and ethical confrontation may be necessary.
Philosophy, Practical & Systematic Theology
M. Th. (Praktiese Teologie)

The research, on which this account is based, took place within the context of Blooming Acres, my home, and the learning community that I co-founded with my wife Sherri-Ann. In the first chapters, I tell the story of how I came to home-educate learners with complex special needs at my farm north of Toronto, Canada. I describe the neurological disorders that the children in my care are diagnosed with and map out the main literature that guides how I think about and practice education. The aim of this section is to paint a picture of the context in which the research takes place and describe my role in this community. The second section consists of my research with two of the children who lived and learned at Blooming Acres. This includes their stories as told by them, their parent(s), and the educators at Blooming Acres. As I juxtaposed the life experiences of these learners with each other, and wove together aspects of these stories, significant themes emerged relating to their academic and medical histories, as well as their social, extracurricular, and family life, and finally, their experience at Blooming Acres. I employed a life history methodology; one that honours the meaning and knowledge that exists in the storied lives of individuals. As I applied this methodology and engaged in the storied lives of these learners I learned more about what it is like to live and learn with neurological disorders. Four major themes emerged. The first, Pathology for Support / Support for Pathology, relates to learning issues, referral, assessment, diagnosis, medications and “school battles”. Second, Parent Stress includes behavioural issues, judgment, stressful calls from teachers and principals and school failure. Third, Oasis Teachers / Mentors is an expression of care, support, social competence, self-esteem and relationships. Finally, Strengths and Coping is a culmination of issues such as advocacy for support, strategies for success, identifying and coping with stress, understanding diagnosis and becoming well. These emergent themes are articulated within the context of neurology and school failure (risk) and the context of transformation and getting well (resilience). This work contributes to parenting, education, social work, disabilities, medical and risk / resiliency literature.