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1.
Braz. J. Psychiatry (São Paulo, 1999, Impr.) ; 42(1): 87-104, Jan.-Feb. 2020. tab
Artigo em Inglês | LILACS | ID: biblio-1055353

RESUMO

Objective: Trichotillomania (TTM) is characterized by the pulling out of one's hair. TTM was classified as an impulse control disorder in DSM-IV, but is now classified in the obsessive-compulsive related disorders section of DSM-5. Classification for TTM remains an open question, especially considering its impact on treatment of the disorder. In this review, we questioned the relation of TTM to tic disorder and obsessive-compulsive disorder (OCD). Method: We reviewed relevant MEDLINE-indexed articles on clinical, neuropsychological, neurobiological, and therapeutic aspects of trichotillomania, OCD, and tic disorders. Results: Our review found a closer relationship between TTM and tic disorder from neurobiological (especially imaging) and therapeutic standpoints. Conclusion: We sought to challenge the DSM-5 classification of TTM and to compare TTM with both OCD and tic disorder. Some discrepancies between TTM and tic disorders notwithstanding, several arguments are in favor of a closer relationship between these two disorders than between TTM and OCD, especially when considering implications for therapy. This consideration is essential for patients.


Assuntos
Humanos , Masculino , Feminino , Tricotilomania/classificação , Síndrome de Tourette/classificação , Transtorno Obsessivo-Compulsivo/classificação , Tricotilomania/etiologia , Tricotilomania/terapia , Neurobiologia , Comorbidade , Resultado do Tratamento , Manual Diagnóstico e Estatístico de Transtornos Mentais , Neuropsicologia
2.
Braz J Psychiatry ; 42(1): 87-104, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31576938

RESUMO

OBJECTIVE: Trichotillomania (TTM) is characterized by the pulling out of one's hair. TTM was classified as an impulse control disorder in DSM-IV, but is now classified in the obsessive-compulsive related disorders section of DSM-5. Classification for TTM remains an open question, especially considering its impact on treatment of the disorder. In this review, we questioned the relation of TTM to tic disorder and obsessive-compulsive disorder (OCD). METHOD: We reviewed relevant MEDLINE-indexed articles on clinical, neuropsychological, neurobiological, and therapeutic aspects of trichotillomania, OCD, and tic disorders. RESULTS: Our review found a closer relationship between TTM and tic disorder from neurobiological (especially imaging) and therapeutic standpoints. CONCLUSION: We sought to challenge the DSM-5 classification of TTM and to compare TTM with both OCD and tic disorder. Some discrepancies between TTM and tic disorders notwithstanding, several arguments are in favor of a closer relationship between these two disorders than between TTM and OCD, especially when considering implications for therapy. This consideration is essential for patients.


Assuntos
Transtorno Obsessivo-Compulsivo/classificação , Síndrome de Tourette/classificação , Tricotilomania/classificação , Comorbidade , Manual Diagnóstico e Estatístico de Transtornos Mentais , Feminino , Humanos , Masculino , Neurobiologia , Neuropsicologia , Resultado do Tratamento , Tricotilomania/etiologia , Tricotilomania/terapia
3.
Dev Med Child Neurol ; 60(9): 942-950, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29748952

RESUMO

AIM: To explore the heterogeneity of Tourette syndrome as part of a neurodevelopmental spectrum. METHOD: Using hierarchical ascendant clustering based on tic symptoms, developmental milestones, and neurodevelopmental comorbidities, we analyzed the heterogeneity of Tourette syndrome phenotypes in a sample of 174 children and adolescents with Tourette syndrome referred to a tertiary university clinic. RESULTS: The model yielded three distinct clusters characterized as follows. In cluster 1, we found many neurodevelopmental comorbidities (including intellectual disabilities, autism spectrum disorder, attention-deficit-hyperactivity disorder [ADHD], and learning disabilities) and academic impairments. In cluster 2, patients had no other neurodevelopmental comorbidities. In cluster 3, patients had higher intelligence, a high frequency of attentional impairment, school problems related to both ADHD and unspecific attention difficulties, and handwriting problems related to the tics themselves. Interestingly, clusters did not differ in terms of family history or anxious-depressive comorbidities. The only other differences that emerged were related to prenatal or perinatal risk factors (more represented in cluster 1) and treatment profiles (higher rates of stimulants in cluster 1). INTERPRETATION: We conclude that from a phenotypical perspective, Tourette syndrome is a heterogeneous syndrome with at least three main clusters that may help in addressing the etiological basis of Tourette syndrome and specific rehabilitative and therapeutic approaches. WHAT THIS PAPER ADDS: The clustering of Tourette syndrome based on comorbidity with other neurodevelopmental conditions reveals three clusters. A group of patients with Tourette syndrome show school difficulties related to non-specific attention and writing problems. Analysing only children and adolescents helps to distinguish between developmental comorbid conditions and coexistent disorders.


Assuntos
Transtornos do Neurodesenvolvimento/epidemiologia , Síndrome de Tourette/classificação , Síndrome de Tourette/complicações , Adolescente , Criança , Análise por Conglomerados , Estudos de Coortes , Feminino , França , Humanos , Masculino , Transtornos do Neurodesenvolvimento/diagnóstico , Síndrome de Tourette/psicologia
4.
Hum Brain Mapp ; 38(8): 3988-4008, 2017 08.
Artigo em Inglês | MEDLINE | ID: mdl-28474385

RESUMO

Tourette syndrome (TS) is a childhood-onset neurobehavioral disorder. Although previous TS studies revealed structural abnormalities in distinct corticobasal ganglia circuits, the topological alterations of the whole-brain white matter (WM) structural networks remain poorly understood. Here, we used diffusion MRI probabilistic tractography and graph theoretical analysis to investigate the topological organization of WM networks in 44 drug-naive TS children and 41 age- and gender-matched healthy children. The WM networks were constructed by estimating inter-regional connectivity probability and the topological properties were characterized using graph theory. We found that both TS and control groups showed an efficient small-world organization in WM networks. However, compared to controls, TS children exhibited decreased global and local efficiency, increased shortest path length and small worldness, indicating a disrupted balance between local specialization and global integration in structural networks. Although both TS and control groups showed highly similar hub distributions, TS children exhibited significant decreased nodal efficiency, mainly distributed in the default mode, language, visual, and sensorimotor systems. Furthermore, two separate networks showing significantly decreased connectivity in TS group were identified using network-based statistical (NBS) analysis, primarily composed of the parieto-occipital cortex, precuneus, and paracentral lobule. Importantly, we combined support vector machine and multiple kernel learning frameworks to fuse multiple levels of network topological features for classification of individuals, achieving high accuracy of 86.47%. Together, our study revealed the disrupted topological organization of structural networks related to pathophysiology of TS, and the discriminative topological features for classification are potential quantitative neuroimaging biomarkers for clinical TS diagnosis. Hum Brain Mapp 38:3988-4008, 2017. © 2017 Wiley Periodicals, Inc.


Assuntos
Encéfalo/diagnóstico por imagem , Imagem de Difusão por Ressonância Magnética , Imagem de Tensor de Difusão , Síndrome de Tourette/diagnóstico por imagem , Adolescente , Algoritmos , Área Sob a Curva , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico por imagem , Criança , Pré-Escolar , Imagem de Difusão por Ressonância Magnética/métodos , Imagem de Tensor de Difusão/métodos , Feminino , Humanos , Processamento de Imagem Assistida por Computador/métodos , Masculino , Vias Neurais/diagnóstico por imagem , Transtorno Obsessivo-Compulsivo/complicações , Transtorno Obsessivo-Compulsivo/diagnóstico por imagem , Curva ROC , Máquina de Vetores de Suporte , Síndrome de Tourette/classificação , Síndrome de Tourette/complicações
5.
Rev. Asoc. Esp. Neuropsiquiatr ; 36(130): 347-362, jul.-dic. 2016.
Artigo em Espanhol | IBECS | ID: ibc-158409

RESUMO

El término trastorno de Tourette emerge en el campo de la psiquiatría con la aparición de la tercera edición del Manual Diagnóstico y Estadístico de Trastornos Mentales (DSM-III) en el año 1980. Sin embargo, el hecho de que se consensuaran sus criterios diagnósticos por el grupo de expertos responsable de la elaboración de dicha versión del DSM no implica que previamente no existieran múltiples referencias a su sintomatología. El objetivo de este trabajo es recoger aportaciones de la historia de la neurología y de la psiquiatría que permitan comprender cómo se ha ido configurando el concepto operativo de trastorno de Tourette tal como es aceptado en la actualidad por una gran parte de la comunidad científica. En la última década, merced a los estudios de asociación de todo el genoma, se han producido importantes avances en la identificación de variantes comunes y variantes raras implicadas en la etiología del trastorno de Tourette. La conclusión más relevante que se desprende de esta revisión es poner al descubierto la crisis del modelo categórico kraepeliniano del trastorno (AU)


The term Tourette’s disorder emerged in the field of psychiatry with the appearance of the third edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-III) in 1980. However, the fact that some diagnostic criteria were agreed by the expert group responsible for the development of this version of the DSM diagnostic criteria does not mean that multiple references to the symptoms of the disorder did not previously exist. The aim of this review is to collect contributions from the history of neurology and psychiatry which allow us to understand how the operating concept of Tourette’s disorder has been progressively shaped as it is currently accepted by the scientific community. In the last decade, thanks to studies of genome association, major advances have arisen in identifying common variants and rare variants involved in the etiology of Tourette’s disorder. The most important conclusion of this review is the disclosure of the crisis of the Kraepelinian categorical model of the disorder (AU)


Assuntos
Humanos , Masculino , Feminino , História Medieval , História do Século XV , História do Século XVI , História do Século XVII , História do Século XVIII , História do Século XIX , Síndrome de Tourette/epidemiologia , Síndrome de Tourette/história , Neuropsiquiatria/história , Neuropsiquiatria/estatística & dados numéricos , Classificação Internacional de Doenças/história , Classificação Internacional de Doenças/organização & administração , Transtornos de Tique/história , Síndrome de Tourette/classificação , Síndrome de Tourette/complicações , Manual Diagnóstico e Estatístico de Transtornos Mentais , Classificação Internacional de Doenças/legislação & jurisprudência , Classificação Internacional de Doenças/normas , Psicanálise/história , Psicanálise/métodos
6.
Dev Sci ; 19(4): 581-98, 2016 07.
Artigo em Inglês | MEDLINE | ID: mdl-26834084

RESUMO

Tourette syndrome (TS) is a developmental neuropsychiatric disorder characterized by motor and vocal tics. Individuals with TS would benefit greatly from advances in prediction of symptom timecourse and treatment effectiveness. As a first step, we applied a multivariate method - support vector machine (SVM) classification - to test whether patterns in brain network activity, measured with resting state functional connectivity (RSFC) MRI, could predict diagnostic group membership for individuals. RSFC data from 42 children with TS (8-15 yrs) and 42 unaffected controls (age, IQ, in-scanner movement matched) were included. While univariate tests identified no significant group differences, SVM classified group membership with ~70% accuracy (p < .001). We also report a novel adaptation of SVM binary classification that, in addition to an overall accuracy rate for the SVM, provides a confidence measure for the accurate classification of each individual. Our results support the contention that multivariate methods can better capture the complexity of some brain disorders, and hold promise for predicting prognosis and treatment outcome for individuals with TS.


Assuntos
Imageamento por Ressonância Magnética/métodos , Máquina de Vetores de Suporte/normas , Síndrome de Tourette/classificação , Síndrome de Tourette/diagnóstico por imagem , Adolescente , Estudos de Casos e Controles , Criança , Feminino , Humanos , Masculino , Modelos Neurológicos , Análise Multivariada , Rede Nervosa , Prognóstico
7.
J Affect Disord ; 190: 663-674, 2016 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-26590514

RESUMO

BACKGROUND: To present the rationale for the new Obsessive-Compulsive and Related Disorders (OCRD) grouping in the Mental and Behavioural Disorders chapter of the Eleventh Revision of the World Health Organization's International Classification of Diseases and Related Health Problems (ICD-11), including the conceptualization and essential features of disorders in this grouping. METHODS: Review of the recommendations of the ICD-11 Working Group on the Classification for OCRD. These sought to maximize clinical utility, global applicability, and scientific validity. RESULTS: The rationale for the grouping is based on common clinical features of included disorders including repetitive unwanted thoughts and associated behaviours, and is supported by emerging evidence from imaging, neurochemical, and genetic studies. The proposed grouping includes obsessive-compulsive disorder, body dysmorphic disorder, hypochondriasis, olfactory reference disorder, and hoarding disorder. Body-focused repetitive behaviour disorders, including trichotillomania and excoriation disorder are also included. Tourette disorder, a neurological disorder in ICD-11, and personality disorder with anankastic features, a personality disorder in ICD-11, are recommended for cross-referencing. LIMITATIONS: Alternative nosological conceptualizations have been described in the literature and have some merit and empirical basis. Further work is needed to determine whether the proposed ICD-11 OCRD grouping and diagnostic guidelines are mostly likely to achieve the goals of maximizing clinical utility and global applicability. CONCLUSION: It is anticipated that creation of an OCRD grouping will contribute to accurate identification and appropriate treatment of affected patients as well as research efforts aimed at improving our understanding of the prevalence, assessment, and management of its constituent disorders.


Assuntos
Transtorno da Personalidade Compulsiva/classificação , Transtorno da Personalidade Compulsiva/diagnóstico , Transtorno Obsessivo-Compulsivo/classificação , Transtorno Obsessivo-Compulsivo/diagnóstico , Transtornos Dismórficos Corporais/classificação , Manual Diagnóstico e Estatístico de Transtornos Mentais , Transtorno de Acumulação/classificação , Humanos , Hipocondríase/classificação , Síndrome de Tourette/classificação , Tricotilomania/classificação , Adulto Jovem
8.
Asian J Psychiatr ; 11: 106-13, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25453712

RESUMO

The fifth version of the Diagnostic and statistical manual of mental disorders (DSM-5) was released in May 2013 after 14 years of development and almost two decades after the last edition DSM-IV was published in 1994. We review the DSM journey with regards to Tourette Syndrome from the original publication of DSM 1 in 1952 till date. In terms of changes in DSM 5, the major shift has come in the placement of Tourette Syndrome under the 'Neurodevelopmental Disorders' alongside other disorders with a developmental origin. This review provides an overview of the changes in DSM-5 highlighting key points for clinical practice and research along with a snap shot of the current use of DSM as a classificatory system in different parts of the world and suggestions for improving the subtyping and the diagnostic confidence.


Assuntos
Manual Diagnóstico e Estatístico de Transtornos Mentais , Síndrome de Tourette/classificação , Síndrome de Tourette/diagnóstico , Humanos , Síndrome de Tourette/psicologia
9.
Braz J Psychiatry ; 36 Suppl 1: 51-8, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25388612

RESUMO

This article reflects discussion by the WHO ICD-11 Working Group on the Classification of Obsessive-Compulsive and Related Disorders. After reviewing the historical classification of tic disorders, this article discusses their placement in ICD-11. Existing problems with diagnostic labels and criteria, appropriate placement of the tic disorders category within the ICD-11 system, and pragmatic factors affecting classification are reviewed. The article ends with recommendations to (a) maintain consistency with the DSM-5 diagnostic labels for tic disorders, (b) add a minimum duration guideline for a provisional tic disorder diagnosis, (c) remove the multiple motor tic guideline for the diagnosis of Tourette disorder, and (d) co-parent the tic disorder diagnoses in the disorders of the nervous system and the mental and behavioral disorders categories, with secondary co-parenting in the obsessive-compulsive and related disorders and neurodevelopmental disorders sections.


Assuntos
Manual Diagnóstico e Estatístico de Transtornos Mentais , Classificação Internacional de Doenças , Transtornos de Tique/classificação , Transtornos de Tique/diagnóstico , Humanos , Transtorno Obsessivo-Compulsivo/classificação , Transtorno Obsessivo-Compulsivo/diagnóstico , Síndrome de Tourette/classificação , Síndrome de Tourette/diagnóstico
10.
Lakartidningen ; 111(39): 1643-6, 2014 Sep 23.
Artigo em Sueco | MEDLINE | ID: mdl-25253610

RESUMO

Co-existence of attention-deficit/hyperactivity disorder, oppositional defiant disorder, tic disorders, developmental coordination disorder, language disorder, learning problems, and autism spectrum disorder and sharing of symptoms across disorders, contribute to the typical clinical presentation in child psychiatry as well as in developmental medicine. The acronym ESSENCE refers to Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations. Affected children are brought for clinical assessment because of impairing symptoms that raise concern before the age of about 5 years in general development, communication and language, social inter-relatedness, motor coordination, attention, activity, behaviour, mood, and/or sleep. Such children are usually in need of a range of expert assessments, but a holistic approach is rarely taken from the start. Major problems in at least one ESSENCE domain before 5 years of age predict poor mental health later in life. Expert ESSENCE centres for assessment, habilitation and treatment of these children are needed.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/classificação , Criança , Transtornos Globais do Desenvolvimento Infantil/classificação , Pré-Escolar , Comorbidade , Deficiências do Desenvolvimento/classificação , Deficiências do Desenvolvimento/diagnóstico , Epilepsia/classificação , Epilepsia/diagnóstico , Humanos , Deficiência Intelectual/classificação , Deficiência Intelectual/diagnóstico , Transtornos das Habilidades Motoras/classificação , Transtornos das Habilidades Motoras/diagnóstico , Testes Neuropsicológicos , Terminologia como Assunto , Síndrome de Tourette/classificação , Síndrome de Tourette/diagnóstico
11.
Z Kinder Jugendpsychiatr Psychother ; 42(2): 129-34, 2014 Mar.
Artigo em Alemão | MEDLINE | ID: mdl-24571819

RESUMO

The classification of tic disorders has been revised in the new fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5). The previously expressed suggestion to categorize tic disorders within the "Anxiety and Obsessive Compulsive Disorders" was not implemented. The section "Disorders Usually First Diagnosed in Infancy, Childhood, or Adolescence" was revised and renamed as "Neurodevelopmental Disorders." Tic disorders are classified there as movement disorders. Most of the changes are distinct improvements from both a clinical and a scientific perspective. For example, by removing the adjective "stereotype," the definition of tics is more precise and unified. Also, the new time-oriented criteria are more practical in the clinical setting, e.g., the exclusion criterion of a tic-free interval more than 3 months given for chronic tic disorders has been deleted. The renamings from "Transient" to "Provisional Tic Disorder" as well as from "Chronic" to "Persistent Tic Disorder" are welcome changes from a clinical perspective. Overall, the revision of the criteria is an important step towards providing more clarity and feasibility. However, the revised classification of tic disorders is still based only on clinical experience and not on evidence. Future studies should show whether the revised and improved criteria truly provide the optimal classification.


Assuntos
Manual Diagnóstico e Estatístico de Transtornos Mentais , Transtornos de Tique/diagnóstico , Síndrome de Tourette/diagnóstico , Transtornos de Ansiedade/classificação , Transtornos de Ansiedade/diagnóstico , Transtornos de Ansiedade/psicologia , Deficiências do Desenvolvimento/classificação , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/psicologia , Diagnóstico Diferencial , Humanos , Transtorno Obsessivo-Compulsivo/classificação , Transtorno Obsessivo-Compulsivo/diagnóstico , Transtorno Obsessivo-Compulsivo/psicologia , Transtornos de Tique/classificação , Transtornos de Tique/psicologia , Síndrome de Tourette/classificação , Síndrome de Tourette/psicologia
12.
Artigo em Inglês | LILACS | ID: lil-727716

RESUMO

This article reflects discussion by the WHO ICD-11 Working Group on the Classification of Obsessive-Compulsive and Related Disorders. After reviewing the historical classification of tic disorders, this article discusses their placement in ICD-11. Existing problems with diagnostic labels and criteria, appropriate placement of the tic disorders category within the ICD-11 system, and pragmatic factors affecting classification are reviewed. The article ends with recommendations to (a) maintain consistency with the DSM-5 diagnostic labels for tic disorders, (b) add a minimum duration guideline for a provisional tic disorder diagnosis, (c) remove the multiple motor tic guideline for the diagnosis of Tourette disorder, and (d) co-parent the tic disorder diagnoses in the disorders of the nervous system and the mental and behavioral disorders categories, with secondary co-parenting in the obsessive-compulsive and related disorders and neurodevelopmental disorders sections.


Assuntos
Humanos , Manual Diagnóstico e Estatístico de Transtornos Mentais , Classificação Internacional de Doenças , Transtornos de Tique/classificação , Transtornos de Tique/diagnóstico , Transtorno Obsessivo-Compulsivo/classificação , Transtorno Obsessivo-Compulsivo/diagnóstico , Síndrome de Tourette/classificação , Síndrome de Tourette/diagnóstico
14.
J Psychosom Res ; 67(6): 547-57, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19913659

RESUMO

Diagnosis and treatment of the PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections) variant of Gilles de la Tourette syndrome (GTS) and childhood-onset obsessive-compulsive disorder (OCD) are still controversial issues. Most cross-sectional studies confirm a significant association between GTS and the development of an immune response against group A beta-hemolytic streptococcus (GABHS). Moreover, longitudinal retrospective studies suggest that a recent exposure to GABHS might be a risk factor for the onset of tics and obsessive-compulsive symptoms. However, further evidence from longitudinal prospective research is needed to verify whether a temporal association between GABHS infections and symptom exacerbations is a useful and reliable criterion for the diagnosis of PANDAS. In addition, preliminary results suggest that the PANDAS spectrum might be enlarged to include attention deficit/hyperactivity disorder. Although a number of immunological biomarkers have been proposed as markers of the PANDAS variant, at present, none of these has been conclusively proved useful to diagnose and monitor disease course in children with a suspicion of PANDAS. Finally, despite their empirical use in community settings, we still lack conclusive, evidence-based data regarding the usefulness of antibiotic and immunomodulatory treatments in children with PANDAS. Given the relevance of this topic for general pediatric health, additional research efforts to solve all the pending issues and the hottest points of debate are warranted.


Assuntos
Transtorno Obsessivo-Compulsivo/classificação , Infecções Estreptocócicas/complicações , Streptococcus , Síndrome de Tourette/classificação , Humanos , Transtorno Obsessivo-Compulsivo/etiologia , Transtornos de Tique/classificação , Transtornos de Tique/etiologia , Síndrome de Tourette/etiologia
15.
Hu Li Za Zhi ; 56(5): 69-74, 2009 Oct.
Artigo em Chinês | MEDLINE | ID: mdl-19760579

RESUMO

Tourette syndrome (TS) is a chronic tic disorder that occurs in childhood. Children with TS may have multiple tic incidents during a day, even many times per minute. Such sudden, rapid and short utterings or movements may influence sufferers' ability to perform daily activities and present barriers to normal interaction with others. Anger, depression and low self-esteem are commonly seen in many children with TS. Awareness of TS is not great in Taiwan, and so many pediatric patients fail to obtain an early diagnosis and / or are mistreated or punished due to disorder-related behaviors. Such results in elevated physical, psychological and social stresses for sufferers. In this paper, we briefly introduce TS symptoms, diagnosis, classification, prognosis, co-morbidity, related psycho-social stresses, and common treatments. In order to facilitate the effective management of TS, we provide suggestion for patient families and schools as well as recommendations on how to interact effectively with others. We hope this article is helpful for healthcare workers, patients, families and schools to improve the recognition and management of TS.


Assuntos
Síndrome de Tourette/diagnóstico , Síndrome de Tourette/terapia , Criança , Humanos , Prognóstico , Síndrome de Tourette/classificação , Síndrome de Tourette/psicologia
16.
Psychiatr Genet ; 17(3): 143-52, 2007 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-17417057

RESUMO

BACKGROUND: 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. OBJECTIVE: To characterize Gilles de la Tourette syndrome phenotypes in a group of individuals who underwent a complete genome scan. METHODS: 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. RESULTS: 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. CONCLUSION: 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.


Assuntos
Síndrome de Tourette/genética , Feminino , Variação Genética , Genoma Humano , Humanos , Masculino , Transtorno Obsessivo-Compulsivo/genética , Linhagem , Síndrome de Tourette/classificação
17.
J Neurol Neurosurg Psychiatry ; 77(6): 787-9, 2006 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16500943

RESUMO

This study determined the prevalence of and factors associated with comorbid major depressive disorder (MDD) in patients with Gilles de la Tourette syndrome (GTS). How a simple self-report instrument, the Beck Depression Inventory (BDI), correlates with clinical assessment of comorbid MDD in this population was assessed. In a continuous sample of 114 adult patients with GTS, assessed clinically using the Diagnostic and Statistical Manual of Mental Disorders-IV criteria, 26 (23%) patients met criteria for MDD; more severe tics as measured with the Yale Global Tic Severity Scale, conduct disorder in childhood or higher age at the time of assessment were associated with MDD. The BDI score had a high negative predictive value for diagnosis of MDD, but a low positive predictive value. Using the BDI as a screening tool for comorbid MDD in patients with GTS is suggested.


Assuntos
Transtorno Depressivo Maior/diagnóstico , Escalas de Graduação Psiquiátrica , Síndrome de Tourette/complicações , Adulto , Comorbidade , Estudos Transversais , Transtorno Depressivo Maior/epidemiologia , Transtorno Depressivo Maior/etiologia , Feminino , Humanos , Masculino , Valor Preditivo dos Testes , Prevalência , Índice de Gravidade de Doença , Síndrome de Tourette/classificação , Síndrome de Tourette/psicologia
18.
IEEE Trans Biomed Eng ; 51(7): 1286-95, 2004 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-15248548

RESUMO

Tourette's syndrome, no longer considered as a rare and unusual disease, is the most severe tic disorder in children. Early differential diagnosis between Tourette's syndrome and chronic tic disorder is difficult but important because proper and early medical therapy can improve the child's condition. Brain single-photon emission computed tomography (SPECT) perfusion imaging with technetium-99m hexamethylpropylene amine oxime is a method to distinguish these two diseases. In this paper, a fuzzy system called characteristic-point-based fuzzy inference system (CPFIS) is proposed to help radiologists perform computer-aided diagnosis (CAD). The CPFIS consists of SPECT-volume processing, input-variables selection, characteristic-points (CPs) derivation, and parameter tuning of the fuzzy system. Experimental results showed that the major fuzzy rules from the obtained CPs match the major patterns of Tourette's syndrome and chronic tic disorder in perfusion imaging. If any case that was diagnosed as chronic tic by the radiologist but as Tourette's syndrome by the CPFIS was taken as Tourette's syndrome, then the accuracy of the radiologist was increased from 87.5% (21 of 24) without the CPFIS to 91.7% (22 of 24) with the CPFIS. All 17 cases of Tourette's syndrome, which is more severe than chronic tic disorder, were correctly classified. Although the construction and application process of the proposed method is complete, more samples should be used and tested in order to design a universally effective CAD without small sample-size concerns in this research.


Assuntos
Algoritmos , Interpretação de Imagem Assistida por Computador/métodos , Transtornos de Tique/diagnóstico por imagem , Tomografia Computadorizada de Emissão de Fóton Único/métodos , Encéfalo/diagnóstico por imagem , Criança , Pré-Escolar , Doença Crônica , Diagnóstico Diferencial , Lógica Fuzzy , Humanos , Lactente , Recém-Nascido , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Transtornos de Tique/classificação , Síndrome de Tourette/classificação , Síndrome de Tourette/diagnóstico por imagem
19.
Mov Disord ; 17(4): 735-40, 2002 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-12210863

RESUMO

We report on 8 patients with adult-onset motor tics and vocalisations. Three had compulsive tendencies in childhood and 3 had a family history of tics or obsessive-compulsive behaviour. In comparison with DSM-classified, younger-onset Gilles de la Tourette syndrome, adult-onset tic disorders are more often associated with severe symptoms, greater social morbidity, a potential trigger event, increased sensitivity, and poorer response to neuroleptic medication.


Assuntos
Transtornos de Tique/diagnóstico , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtorno Obsessivo-Compulsivo/classificação , Transtorno Obsessivo-Compulsivo/diagnóstico , Fatores de Risco , Transtornos de Tique/classificação , Síndrome de Tourette/classificação , Síndrome de Tourette/diagnóstico
20.
Mol Psychiatry ; 7(5): 437-45, 2002.
Artigo em Inglês | MEDLINE | ID: mdl-12082557

RESUMO

We provide a review of recent research findings which support the involvement of autoimmunity in childhood-onset tic disorders, in particular the presence of antineuronal autoantibodies, D8/17 B lymphocyte overexpression, a marker of chorea associated with streptococcal infection, and possible beneficial effects of immunomodulatory intervention. One of the most controversial areas in this field is the validity of the proposed PANDAS concept. Some researchers have delineated a putatively unique subgroup of patients, from the spectrum of illness encompassing Tourette's syndrome and obsessive-compulsive disorder (OCD), whose tics and obsessive-compulsive symptoms are shown to arise in response to beta-hemolytic streptococcal infections. They designated it by the term pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS). Herein we additionally present pros and cons concerning the concept of PANDAS. Finally, recommendations for future research directions are given.


Assuntos
Doenças Autoimunes/classificação , Síndrome de Tourette/classificação , Síndrome de Tourette/imunologia , Autoanticorpos/sangue , Linfócitos B/imunologia , Humanos , Triptofano/metabolismo
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