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.

This study explored the experiences of members of an OCD support group, utilising a qualitative design, social constructionist approach, and a systemic framework. Participants were obtained through purposive sampling; data was collected via faceto- face semi-structured interviews with four participants. It emerged that these participants attended two OCD support groups (initial support group and sub-support group). The participants’ experiences were analysed using thematic analysis. Major findings: the participants’ motivation to attend both support groups was to reduce their OCD symptoms and improve functioning. The initial support group was a professional-led psychoeducational support group while the sub-support group was a self-help psychotherapeutic group. The groups also complemented each other with information from the initial support group being implemented in the sub-support group. The participants reported to have benefitted from participation in both support groups as their OCD symptoms reduced and their daily functioning improved. Recommendations for future research were discussed. / Psychology / M.A. (Clinical Psychology)

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.

Body Dysmorphic Disorder (BDD) and Obsessive Compulsive Disorder (OCD) share many similarities such as the presence of obsessions and compulsions, a similar age of onset and also similar activation of underlying structures within the brain related to obsessions and compulsion formation. The recently published DSM-V (Diagnostic and Statistical Manual for Mental Disorders; American Psychiatric Association, 2013) has grouped the two conditions together in a chapter entitled Obsessive Compulsive -and related disorders, recognising the similarities in presentation. This appeared to echo the classification within the NICE guidelines for OCD and BDD (National Institute for Health and Care Excellence, 2006) where the two conditions were grouped together on the presence of obsessions and compulsions, neurological evidence pointing to the activation of brain areas responsible for obsessive thoughts and compulsive acts alongside strong familial links. Both OCD and BDD were understood (from both sets of guidelines) to respond well to the use of Selective Serotonin Re-uptake Inhibitors and the treatment use of Cognitive Behavioural Therapy. This qualitative research study focuses on the gap in existing literature by studying the lived experience of individuals living with obsessions and compulsions. Much focus has historically remained on understanding the clinical symptomology and underlying constructs as related to living with obsessions and compulsions, through the use of questionnaires or brain imaging. With recent changes in the DSM-V (Statistical Manual for mental Disorders; American Psychiatric Association, 2013) recognising OCD and BDD as part of the same family of conditions, it appeared timely to focus on the individuals living with OCD or BDD and their sense and meaning making as informed by their experiences of obsessions and compulsions.

<p>Obsessive-compulsive disorder (OCD) is a devastating illness that afflicts around 2% of the world's population with recurrent distressing thoughts (obsessions) and repetitive ritualistic behaviors (compulsions). While dysfunction at excitatory glutaminergic excitatory synapses leading to hyperactivity of the orbitofrontal cortex and head of the caudate - brain regions involved in reinforcement learning - are implicated in the pathology of OCD, clinical studies involving patients are unable to dissect the molecular mechanisms underlying this cortico-striatal circuitry defect. Since OCD is highly heritable, recent studies using mutant mouse models have shed light on the cellular pathology mediating OCD symptoms. These studies point toward a crucial role for deltaFosB, a persistent transcription factor that accumulates with chronic neuronal activity and is involved in various diseases of the striatum. Furthermore, elevated deltaFosB levels results in the transcriptional upregulation of Grin2b, which codes GluN2B, an N-methyl-D-aspartate glutamate receptor (NMDAR) subunit required for the formation and maintenance of silent synapses. Taken together, the current evidence indicates that deltaFosB-mediated expression of aberrant silent synapses in caudate medium spiny neurons (MSNs), in particular D1 dopamine-receptor expressing MSNs (D1 MSNs), mediates the defective cortico-striatal synaptic transmission that underlies compulsive behavior in OCD.</p> / Dissertation

9 Summary This thesis deals with obsessive-compulsive disorder in connection with the practice of social work. It draws attention to numerous problems of anxiety disorders in society, risk factors for the development of anxiety disorders and risks in the social sphere. It also analyzes in detail obsessions, compulsions, manifestations and diagnosing of OCD and, last but not least, the practice of social work with the obsessive-compulsive disorder. Social work with people suffering from obsessive-compulsive disorder may be more challenging overall, requiring increased patience, knowledge of social workers, and the ability to use some important methods. The same importance is dedicated to managing clients to refer to follow-up professional help. People with OCD deserve support from experts and acceptance by the public, which is also a reason why it is so important to have knowledge of obsessive-compulsive disorder and do not underestimate this issue..

This qualitative study explores the unconscious life of four children diagnosed with Obsessive-Compulsive Disorder (OCD) specifically related to selfconcept, personality, and psychopathology using a case study approach. A review of literature on childhood OCD is presented and the study is located within a psychodynamic theoretical framework. Findings indicate that the children are emotionally maladjusted, with high levels of anxiety and psychopathology. They have low self-esteem and poor body images, mostly tending towards immaturity. Two of the children have personality disturbances (neurotic, hysterical personalities). All the children have disturbed superegos (harsh or neurotic). Although their symptoms are currently mild, and some have ceased, analysis suggests they have been repressed and continue to affect them. They are sexually preoccupied and conflicted due to the unsuccessful resolution of the Oedipus complex. They have poor impulse control and considerable anger and aggression (mostly overt). They experience their environment as unstable and frightening and have anxieties about physical injury and being watched. The boys have regressed sex drives and homosexual tendencies, and have not identified with their fathers. The girls have identified with their mothers but experience masturbation guilt and blocked sexual drives, causing anxiety and moodiness. The children are all highly defended and escape from feelings of helplessness, inadequacy, and isolation, and discharge anxiety and aggressive instincts by using the defenses of undoing, reaction formation, acting-out, fantasy (sometimes violent), projection, displacement, and intellectualisation. Their strong dependency needs suggest fixation in the oral stage of psychosexual development. They tend towards self-directed aggression and depression. Most have family histories of mood disorders (particularly depression), and obsessions linked to fears of economic hardship due to parental illness or death. Most have histories of anxiety disorders or anxiety-related problems, and family histories of anxiety disorders and/paternal OCD. They all experienced a personally traumatic event precipitating the onset of OCD.

Estudou-se fatores associados a refratariedade do Transtorno Obsessivo-Compulsivo aos tratamentos convencionais em 23 pacientes refratários e 26 respondedores. Os refratários mostraram: sintomas obsessivo-compulsivos, depressivos e ansiosos mais intensos; pior qualidade de vida; mais freqüentemente não ter cônjuge, ter menor escolaridade e condição sócio-econômica, maior acomodação familiar, curso crônico da doença, maior freqüência de conteúdo sexual/religioso, maior período de tempo para iniciar o tratamento e Transtorno Alimentar co-mórbido. O modelo de regressão logística mostrou que maior acomodação familiar e sintomas sexuais/religiosos estão associadas à refratariedade. / We studied possible associated factors of conventional treatment refractoriness in 23 refractory versus 26 respondent Obsessive Compulsive Disorder patients. Refractories had: higher severity of OC, depression and anxiety symptoms; worse quality of life; no spouse; less scholarship; lower social class; higher family accommodation; chronic course of the disease; more frequent sexual/religious symptoms; a longer period to begin the treatment; and comorbid Eating Disorder. Regression analysis model showed that, higher family accommodation and sexual/religious symptoms are associated to refractoriness

O Transtorno obsessivo-compulsivo (TOC) é um transtorno psiquiátrico comum e heterogêneo caracterizado por obsessões (pensamentos, imagens ou impulsos intrusivos e recorrentes) e compulsões (comportamentos ou atos mentais repetitivos realizados para aliviar as obsessões). O TOC tem uma prevalência de 2 a 3% na população geral e apresenta distribuição aproximadamente igual entre os sexos, porém os homens tendem a apresentar os sintomas obsessivo-compulsivos mais precocemente quando comparado com as mulheres. Os estudos de genética epidemiológica têm demonstrado que o fator genético é um importante componente na etiologia do TOC. O principal objetivo desta dissertação foi investigar a influência de alguns genes candidatos na susceptibilidade para o TOC (estudo de genes candidatos) e também qual a influência destes mesmos genes na resposta terapêutica à clomipramina (estudo de farmacogenética). Realizamos o estudo de genes candidatos num total de 215 pacientes e 872 controles. Os loci investigados foram: SLC6A4, HTR1B, HTR2A, SLC6A3, COMT e SLC6A2. Os mesmos polimorfismos foram investigados em uma sub-amostra de 41 pacientes tratados com clomipramina e analisados de acordo com a resposta terapêutica. Foram classificados como respondedores ao tratamento, os pacientes que tiveram uma redução de 40% ou mais na escala YBOCS. Assim, 27 pacientes foram considerados respondedores e 14 nãorespondedores. Diferenças genotípicas e alélicas foram observadas em alguns resultados nos pacientes e controles. Entretanto, nenhuma associação foi observada nas análises para resposta à clomipramina. Os resultados sugerem que alguns polimorfismos estudados podem estar relacionados ao aumento do risco para o TOC, porém, nenhum polimorfismo foi associado à resposta terapêutica à clomipramina. / Obsessive-compulsive disorder (OCD) is a common and heterogeneous psychiatric disorder characterized by obsessions (intrusive and recurrent thoughts, images or impulses) and compulsions (repetitive behaviors or mental acts performed to relive obsessions). OCD prevalence range from 2 to 3% in general population and has approximately equal sex distributions, however men tend to have an earlier age at onset of obsessive-compulsive symptoms comparing to women. Epidemiologic studies have demonstrated that genetic factor is an important component in the etiology of OCD. The aim of this study was to investigate participation of some candidate genes in the susceptibility to OCD and also their effects on clomipramine treatment. We performed a candidate gene study in a total of 215 OCD patients and 865 controls. The loci investigated were: SLC6A4, HTR1B, HTR2A, SLC6A3, COMT and SLC6A2. The same polymorphisms were investigated in a sub-sample of 41 patients treated with clomipramine, and analyzed according to therapeutic response. There were considered good responders to the drug those patients who presented a reduction of 40% or more in Y-BOCS scale. According to this, 27 patients were good responders and 14 poor responders. Genotypic and allelic differences were observed in some results for patients and controls. However, no association was observed in the analyses for clomipramine response. Our results suggest that some polymorphisms investigated may be related to the increase of risk to develop OCD, but they are not associated to therapeutic response to clomipramine.

Introdução: A Terapia Cognitivo-Comportamental (TCC) e os inibidores seletivos de recaptação de serotonina (ISRS) são considerados os tratamentos de primeira linha para o Transtorno Obsessivo-Compulsivo (TOC) nos ensaios clínicos randomizados (ECR). No entanto, a maior parte destes estudos exclui grande parte dos pacientes (em torno de 50%) por apresentarem comorbidades psiquiátricas. Ensaios clínicos pragmáticos e de efetividade, que costumam simular ambientes clínicos naturalísticos ao estudar amostras que representam melhor a população real comparando tratamentos ativos, são de grande importância para as decisões tomadas por um sistema de saúde e poucos têm sido feitos para avaliar a efetividade dos tratamentos para o TOC. O objetivo do presente estudo foi comparar os tratamentos de primeira linha para o TOC em uma amostra mais próxima da população que procura atendimento e avaliar características clínicas associadas às respostas aos tratamentos. Metodologia: Pacientes de 18 a 65 anos de idade, com escore de linha de base da YBOCS de pelo menos 16 para obsessões e compulsões, ou pelo menos 10 apenas para obsessões ou compulsões e com possíveis comorbidades psiquiátricas adicionais foram alocados seqüencialmente para tratamento de TCC em grupo (TCCG; n = 70) ou para tratamento medicamentoso (ISRS; n = 88). A TCCG consistiu em doze sessões semanais de duas horas cada com grupos de 6 a 8 pacientes, baseadas em um manual validado (Cordioli, 2002). O medicamento utilizado foi a fluoxetina com dosagem máxima de 80mg/dia. Foram analisadas respostas aos tratamentos como variáveis contínua (redução percentual na YBOCS) e categórica (redução de pelo menos 35% na YBOCS e ICG 1 muito melhor ou 2 melhor. Resultados: Os escores da YBOCS reduziram 23,13% no grupo tratado com TCCG e 21,54% no grupo tratado com ISRS, sem diferença estatística entre os grupos de tratamento (p = 0,875). Foi encontrada em 33,3% dos pacientes de TCCG e 27,7% dos pacientes de ISRS a redução de pelo menos 35% no escore da YBOCS e resposta à ICG 1 ou 2 (p = 0,463). O número médio de comorbidades psiquiátricas por paciente foi 2,7; e 81,4% da amostra apresentou pelo menos uma comorbidade. A redução na YBOCS foi significativamente menor entre os pacientes com uma ou mais comorbidade psiquiátrica (21,15% e 18,73%, respectivamente) do que entre os pacientes com TOC puro (34,62%) (p = 0,034). Sexo masculino, apresentar um escore inicial mais alto na Beck-A, ter abandonado o tratamento e apresentar comorbidade com Transtorno Depressivo Maior ou Distimia foram associados com taxas mais baixas de resposta ao tratamento, independente do tratamento recebido. Os resultados sugeriram que em uma população mais heterogênea os tratamentos de primeira linha para o TOC são menos efetivos. É necessário o desenvolvimento de intervenções que sejam efetivas para uma população da prática clínica / Introduction: Cognitive-Behavioral Therapy (CBT) and selective serotonin reuptake inhibitors (SSRI) are considered the first line treatments for Obsessive-Compulsive Disorder (OCD) in randomized controlled trials (RCT). However, most of these trials exclude a great amount of patients (around 50%) for presenting psychiatric comorbidities. Pragmatical and effectiveness clinical trials simulate natural clinical environments and compare active treatments in samples that represent the real population. These trials are of great importance for decision makers of the health public system, and only a few trials have investigated the effectiveness of treatments to OCD. The aim of this study was to compare the first line OCD treatments in a sample closer to the OCD real population, and to evaluate clinical characteristics associated to responses to treatments. Methodoly: Patients (1865 years; baseline Yale-Brown Obsessive-Compulsive Scale (YBOCS) scores 16; potentially presenting additional psychiatric comorbidities) were sequentially allocated for treatment with group CBT (GCBT; n=70) or pharmacological treatment (SSRI; n=88). GCBT consisted in twelve two hours weekly sessions with groups of 6 to 8 patients, based in a validated manual (Cordioli, 2002). Medication utilized in SSRI group was fluoxetine, 80mg/day. Response to treatment was analyzed as continuous variable (percent reduction on YBOCS) and as categorical variable (reduction of at least 35% on YBOCS and CGI 1 much better or 2 better. Results: Mean Y-BOCS scores fell by 23.13% in the GCBT and 21.54% in the SSRI group. Symptom reduction did not differ between groups (p = 0.875). A reduction of at least 35% in baseline Y-BOCS score and a CGI rating of 1 (much better) or 2 (better) was achieved by 33.3% of patients in the GCBT and 27.7% in the SSRI group (p=0.463). Patients presented 2.7 mean number of psychiatric comorbidity, and 81.4% showed at least one additional disorder. The YBOCS reduction was significantly lower in patients with one or more psychiatric comorbidities (21.15%, and 18.73%, respectively) than those with pure OCD (34.62%) (p = 0.034). Low responses to treatments were found to be associated to: being male, presenting a high initial Beck-A score, comorbid major depression, dysthymia and abandoning treatment, independently of the treatment received. The development of effective interventions to a real population is necessary