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BACKGROUND/OBJECTIVE: The most recent versions of the two main mental disorders classifications-the World Health Organization's ICD-11 and the American Psychiatric Association's DSM-5-differ substantially in their diagnostic categories related to transgender identity. ICD-11 gender incongruence (GI), in contrast to DSM-5 gender dysphoria (GD), is explicitly not a mental disorder; neither distress nor dysfunction is a required feature. The objective was compared ICD-11 and DSM-5 diagnostic requirements in terms of their sensitivity, specificity, discriminability and ability to predict the use of gender-affirming medical procedures. METHOD: A total of 649 of transgender adults in six countries completed a retrospective structured interview. RESULTS: Using ROC analysis, sensitivity of the diagnostic requirements was equivalent for both systems, but ICD-11 showed greater specificity than DSM-5. Regression analyses indicated that history of hormones and/or surgery was predicted by variables that are an intrinsic aspect of GI/GD more than by distress and dysfunction. IRT analyses showed that the ICD-11 diagnostic formulation was more parsimonious and contained more information about caseness than the DSM-5 model. CONCLUSIONS: This study supports the ICD-11 position that GI/GD is not a mental disorder; additional diagnostic requirements of distress and/or dysfunction in DSM-5 reduce the predictive power of the diagnostic model.
ANTECEDENTES/OBJETIVO: Las versiones más recientes de las clasificaciones de trastornos mentales CIE-11 de la Organización Mundial de la Salud y DSM5 de la Asociación Psiquiátrica Americana difieren en sus categorías diagnósticas relacionadas con la identidad transgénero. La discordancia de género (DiscG) de la CIE-11, en contraste con la disforia de género (DisfG) del DSM-5, no es considerada un trastorno mental; el distrés y la disfunción no son características requeridas para el diagnóstico. El objetivo fue comparar los requisitos diagnósticos de la CIE-11 y el DSM-5 en términos de sensibilidad, especificidad y capacidad para discriminar casos y predecir el uso de procedimientos médicos de afirmación de género. MÉTODO: 649 adultos transgénero de seis países completaron una entrevista estructurada retrospectiva. RESULTADOS: De acuerdo con el análisis ROC, la sensibilidad de ambos sistemas fue equivalente, aunque la CIE-11 mostró mayor especificidad que el DSM-5. Los análisis de regresión indicaron que la historia de uso de hormonas o cirugía se predijo por variables intrínsecas a la DiscG/DisfG y no por el distrés o disfunción. Según los análisis de respuesta al ítem (TRi) la formación CIE-11 resulta más parsimoniosa y contiene mayor información sobre los casos. CONCLUSIONES: Se aporta evidencia a favor de que la DiscG/DisfG no es un trastorno mental; los criterios diagnósticos adicionales de distrés y/o disfunción del DSM-5 reducen su poder predictivo.
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An important challenge in mental health research is to translate findings from cognitive neuroscience and neuroimaging research into effective treatments that target the neurobiological alterations involved in psychiatric symptoms. To address this challenge, in this review we propose a heuristic neurocircuit-based taxonomy to guide the treatment of obsessive-compulsive disorder (OCD). We do this by integrating information from several sources. First, we provide case vignettes in which patients with OCD describe their symptoms and discuss different clinical profiles in the phenotypic expression of the condition. Second, we link variations in these clinical profiles to underlying neurocircuit dysfunctions, drawing on findings from neuropsychological and neuroimaging studies in OCD. Third, we consider behavioral, pharmacological, and neuromodulatory treatments that could target those specific neurocircuit dysfunctions. Finally, we suggest methods of testing this neurocircuit-based taxonomy as well as important limitations to this approach that should be considered in future research.
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Transtorno Obsessivo-Compulsivo , Humanos , Neuroimagem , Transtorno Obsessivo-Compulsivo/terapiaRESUMO
The development of "omic" technologies and deep phenotyping may facilitate a systems biology approach to understanding anxiety disorders. Systems biology approaches incorporate data from multiple modalities (e.g., genomic, neuroimaging) with functional analyses (e.g., animal and tissue culture models) and mathematical modeling (e.g., machine learning) to investigate pathological biophysical networks at various scales. Here we review: i) the neurobiology of anxiety disorders; ii) how systems biology approaches have advanced this work; and iii) the clinical implications and future directions of this research. Systems biology approaches have provided an improved functional understanding of candidate biomarkers and have suggested future potential for refining the diagnosis, prognosis, and treatment of anxiety disorders. The systems biology approach for anxiety disorders is, however, in its infancy and in some instances is characterized by insufficient power and replication. The studies reviewed here represent important steps to further untangling the pathophysiology of anxiety disorders.
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Transtornos de Ansiedade , Biologia de Sistemas , Animais , Transtornos de Ansiedade/terapia , Biomarcadores , Aprendizado de Máquina , NeuroimagemRESUMO
BACKGROUND: Obsessive-compulsive disorder (OCD) has a lifetime prevalence of 2-3% and is a leading cause of global disability. Brain circuit abnormalities in individuals with OCD have been identified, but important knowledge gaps remain. The goal of the new global initiative described in this paper is to identify robust and reproducible brain signatures of measurable behaviors and clinical symptoms that are common in individuals with OCD. A global approach was chosen to accelerate discovery, to increase rigor and transparency, and to ensure generalizability of results. METHODS: We will study 250 medication-free adults with OCD, 100 unaffected adult siblings of individuals with OCD, and 250 healthy control subjects at five expert research sites across five countries (Brazil, India, Netherlands, South Africa, and the U.S.). All participants will receive clinical evaluation, neurocognitive assessment, and magnetic resonance imaging (MRI). The imaging will examine multiple brain circuits hypothesized to underlie OCD behaviors, focusing on morphometry (T1-weighted MRI), structural connectivity (Diffusion Tensor Imaging), and functional connectivity (resting-state fMRI). In addition to analyzing each imaging modality separately, we will also use multi-modal fusion with machine learning statistical methods in an attempt to derive imaging signatures that distinguish individuals with OCD from unaffected siblings and healthy controls (Aim #1). Then we will examine how these imaging signatures link to behavioral performance on neurocognitive tasks that probe these same circuits as well as to clinical profiles (Aim #2). Finally, we will explore how specific environmental features (childhood trauma, socioeconomic status, and religiosity) moderate these brain-behavior associations. DISCUSSION: Using harmonized methods for data collection and analysis, we will conduct the largest neurocognitive and multimodal-imaging study in medication-free subjects with OCD to date. By recruiting a large, ethno-culturally diverse sample, we will test whether there are robust biosignatures of core OCD features that transcend countries and cultures. If so, future studies can use these brain signatures to reveal trans-diagnostic disease dimensions, chart when these signatures arise during development, and identify treatments that target these circuit abnormalities directly. The long-term goal of this research is to change not only how we conceptualize OCD but also how we diagnose and treat it.
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Mapeamento Encefálico , Encéfalo/diagnóstico por imagem , Imagem de Tensor de Difusão , Internacionalidade , Imageamento por Ressonância Magnética , Estudos Multicêntricos como Assunto/métodos , Transtorno Obsessivo-Compulsivo/diagnóstico por imagem , Adolescente , Adulto , Encéfalo/patologia , Encéfalo/fisiopatologia , Brasil , Estudos de Casos e Controles , Feminino , Humanos , Índia , Masculino , Pessoa de Meia-Idade , Países Baixos , Transtorno Obsessivo-Compulsivo/patologia , Transtorno Obsessivo-Compulsivo/fisiopatologia , Projetos de Pesquisa , Irmãos/psicologia , África do Sul , Estados Unidos , Adulto JovemRESUMO
This article reviews recent advances in the genetics of obsessive-compulsive disorder (OCD). We cover work on the following: genome-wide association studies, whole-exome sequencing studies, copy number variation studies, gene expression, polygenic risk scores, gene-environment interaction, experimental animal systems, human cell models, imaging genetics, pharmacogenetics, and studies of endophenotypes. Findings from this work underscore the notion that the genetic architecture of OCD is highly complex and shared with other neuropsychiatric disorders. Also, the latest evidence points to the participation of gene networks involved in synaptic transmission, neurodevelopment, and the immune and inflammatory systems in this disorder. We conclude by highlighting that further study of the genetic architecture of OCD, a great part of which remains to be elucidated, could benefit the development of diagnostic and therapeutic approaches based on the biological basis of the disorder. Studies to date revealed that OCD is not a simple homogeneous entity, but rather that the underlying biological pathways are variable and heterogenous. We can expect that translation from bench to bedside, through continuous effort and collaborative work, will ultimately transform our understanding of what causes OCD and thus how best to treat it.
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OBJECTIVE: Evidence suggests that skin picking disorder (SPD) could be a prevalent condition associated with comorbidity and psychosocial dysfunction. However, just a few studies have assessed the prevalence and correlates of SPD in samples from low- and middle-income countries. In addition, the impact of SPD on quality of life (QoL) dimension after multivariable adjustment to potential confounders remains unclear. METHODS: Data were obtained from a Brazilian anonymous Web-based research platform. Participants provided sociodemographic data and completed the modified Skin Picking-Stanford questionnaire, the Hypomania Checklist (HCL-32), the Patient Health Questionnaire-9 (PHQ-9), the Fagerström Test for Nicotine Dependence, Alcohol Use Disorder Identification Test (AUDIT), Symptom Checklist-90-Revised inventory (SCL-90R), early trauma inventory self report-short form, and the World Health Organization quality of life abbreviated scale (WHOQOL-Bref). Associations were adjusted to potential confounders through multivariable models. RESULTS: For our survey, 7639 participants took part (71.3% females; age: 27.2±7.9 years). The prevalence of SPD was 3.4% (95% CI: 3.0-3.8%), with a female preponderance (P<0.001). In addition, SPD was associated with a positive screen for a major depressive episode, nicotine dependence, and alcohol dependence, as well as suicidal ideation. Physical and psychological QoL was significantly more impaired in participants with SPD compared to those without SPD, even after adjustment for comorbidity. CONCLUSIONS: In this large sample, SPD was a prevalent condition associated with co-occurring depression, nicotine, and alcohol dependence. In addition, SPD was independently associated with impaired physical and psychological QoL. Public health efforts toward the early recognition and treatment of SPD are warranted.
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Depressão/epidemiologia , Transtornos Disruptivos, de Controle do Impulso e da Conduta/epidemiologia , Qualidade de Vida , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Adulto , Feminino , Humanos , Masculino , PrevalênciaRESUMO
Objective: Trypophobia refers to the fear of, or aversion to, clusters of holes. We assessed clinical features of trypophobia and investigated whether it most resembled a specific phobia or obsessive-compulsive disorder. Methods: An online survey was conducted to gather information on sociodemographic variables, course and duration, severity, associated features, comorbid psychiatric diagnoses, and levels of psychological distress and impairment in individuals with trypophobia. The survey also explored whether such individuals experienced more fear or disgust, and whether symptoms showed more resemblance to a specific phobia or to obsessive-compulsive disorder. Associations of symptom severity and duration with degree of impairment were investigated. Results: One hundred and ninety-five individuals completed the questionnaire. Symptoms were chronic and persistent. The most common associated comorbidities were major depressive disorder and generalized anxiety disorder. Trypophobia was associated with significant psychological distress and impairment. The majority of individuals experienced disgust rather than fear when confronted with clusters of holes, but were more likely to meet DSM-5 criteria for specific phobia than for obsessive-compulsive disorder. Symptom severity and duration were associated with functional impairment. Conclusions: Given that individuals with trypophobia suffer clinically significant morbidity and comorbidity, this condition deserves further attention from clinicians and researchers.
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Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Adulto Jovem , Transtornos Fóbicos/psicologia , Transtornos Fóbicos/diagnóstico , Índice de Gravidade de Doença , Comorbidade , Inquéritos e Questionários , Internet , Manual Diagnóstico e Estatístico de Transtornos Mentais , Transtorno Obsessivo-Compulsivo/diagnósticoRESUMO
OBJECTIVE: Trypophobia refers to the fear of, or aversion to, clusters of holes. We assessed clinical features of trypophobia and investigated whether it most resembled a specific phobia or obsessive-compulsive disorder. METHODS: An online survey was conducted to gather information on sociodemographic variables, course and duration, severity, associated features, comorbid psychiatric diagnoses, and levels of psychological distress and impairment in individuals with trypophobia. The survey also explored whether such individuals experienced more fear or disgust, and whether symptoms showed more resemblance to a specific phobia or to obsessive-compulsive disorder. Associations of symptom severity and duration with degree of impairment were investigated. RESULTS: One hundred and ninety-five individuals completed the questionnaire. Symptoms were chronic and persistent. The most common associated comorbidities were major depressive disorder and generalized anxiety disorder. Trypophobia was associated with significant psychological distress and impairment. The majority of individuals experienced disgust rather than fear when confronted with clusters of holes, but were more likely to meet DSM-5 criteria for specific phobia than for obsessive-compulsive disorder. Symptom severity and duration were associated with functional impairment. CONCLUSIONS: Given that individuals with trypophobia suffer clinically significant morbidity and comorbidity, this condition deserves further attention from clinicians and researchers.
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Transtornos Fóbicos/psicologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Comorbidade , Manual Diagnóstico e Estatístico de Transtornos Mentais , Feminino , Humanos , Internet , Masculino , Pessoa de Meia-Idade , Transtorno Obsessivo-Compulsivo/diagnóstico , Transtornos Fóbicos/diagnóstico , Índice de Gravidade de Doença , Inquéritos e Questionários , Adulto JovemRESUMO
BACKGROUND: Unexpected death of a loved one (UD) is the most commonly reported traumatic experience in cross-national surveys. However, much remains to be learned about posttraumatic stress disorder (PTSD) after this experience. The WHO World Mental Health (WMH) survey initiative provides a unique opportunity to address these issues. METHODS: Data from 19 WMH surveys (n = 78,023; 70.1% weighted response rate) were collated. Potential predictors of PTSD (respondent sociodemographics, characteristics of the death, history of prior trauma exposure, history of prior mental disorders) after a representative sample of UDs were examined using logistic regression. Simulation was used to estimate overall model strength in targeting individuals at highest PTSD risk. RESULTS: PTSD prevalence after UD averaged 5.2% across surveys and did not differ significantly between high-income and low-middle income countries. Significant multivariate predictors included the deceased being a spouse or child, the respondent being female and believing they could have done something to prevent the death, prior trauma exposure, and history of prior mental disorders. The final model was strongly predictive of PTSD, with the 5% of respondents having highest estimated risk including 30.6% of all cases of PTSD. Positive predictive value (i.e., the proportion of high-risk individuals who actually developed PTSD) among the 5% of respondents with highest predicted risk was 25.3%. CONCLUSIONS: The high prevalence and meaningful risk of PTSD make UD a major public health issue. This study provides novel insights into predictors of PTSD after this experience and suggests that screening assessments might be useful in identifying high-risk individuals for preventive interventions.
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Atitude Frente a Morte , Morte , Inquéritos Epidemiológicos/estatística & dados numéricos , Acontecimentos que Mudam a Vida , Transtornos de Estresse Pós-Traumáticos/epidemiologia , Transtornos de Estresse Pós-Traumáticos/psicologia , Adolescente , Adulto , Ásia/epidemiologia , Criança , Pré-Escolar , Europa (Continente)/epidemiologia , Feminino , Humanos , Lactente , Modelos Logísticos , Masculino , Prevalência , Risco , Fatores Socioeconômicos , África do Sul/epidemiologia , América do Sul/epidemiologia , Estados Unidos/epidemiologia , Adulto JovemRESUMO
CONTEXT: The scarcity of cross-national reports and the changes in Diagnostic and Statistical Manual version 5 (DSM-5) regarding panic disorder (PD) and panic attacks (PAs) call for new epidemiological data on PD and PAs and its subtypes in the general population. OBJECTIVE: To present representative data about the cross-national epidemiology of PD and PAs in accordance with DSM-5 definitions. DESIGN AND SETTING: Nationally representative cross-sectional surveys using the World Health Organization Composite International Diagnostic Interview version 3.0. PARTICIPANTS: Respondents (n = 142,949) from 25 high, middle, and lower-middle income countries across the world aged 18 years or older. MAIN OUTCOME MEASURES: PD and presence of single and recurrent PAs. RESULTS: Lifetime prevalence of PAs was 13.2% (SE 0.1%). Among persons that ever had a PA, the majority had recurrent PAs (66.5%; SE 0.5%), while only 12.8% fulfilled DSM-5 criteria for PD. Recurrent PAs were associated with a subsequent onset of a variety of mental disorders (OR 2.0; 95% CI 1.8-2.2) and their course (OR 1.3; 95% CI 1.2-2.4) whereas single PAs were not (OR 1.1; 95% CI 0.9-1.3 and OR 0.7; 95% CI 0.6-0.8). Cross-national lifetime prevalence estimates were 1.7% (SE 0.0%) for PD with a median age of onset of 32 (IQR 20-47). Some 80.4% of persons with lifetime PD had a lifetime comorbid mental disorder. CONCLUSIONS: We extended previous epidemiological data to a cross-national context. The presence of recurrent PAs in particular is associated with subsequent onset and course of mental disorders beyond agoraphobia and PD, and might serve as a generic risk marker for psychopathology.
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Inquéritos Epidemiológicos/estatística & dados numéricos , Internacionalidade , Transtorno de Pânico/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Ásia/epidemiologia , Austrália/epidemiologia , Estudos Transversais , Europa (Continente)/epidemiologia , Feminino , Humanos , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Nova Zelândia/epidemiologia , Nigéria/epidemiologia , Transtorno de Pânico/psicologia , Prevalência , América do Sul/epidemiologia , Estados Unidos/epidemiologia , Adulto JovemRESUMO
Objective: In obsessive-compulsive disorder (OCD), symmetry-related symptoms may be important. Although clinical correlates of symmetry-related symptoms have been identified in OCD, few data exist on genetic associations. Animal studies indicate involvement of dopamine in symmetry-related behavior, suggesting this may be relevant to analogous symptoms in OCD. Alterations in dopamine may also reflect environmental influences. However, the association of symmetry-related symptomatology, early adversity, and polymorphisms in dopaminergic genes has not been investigated in OCD. Methods: Clinical information and polymorphisms in key dopaminergic genes were compared between OCD patients with primary symmetry symptoms and those without. Results: OCD patients with primary symmetry symptoms comprised 46.6% (n=210) of the sample (n=451), and were older (p < 0.01), had longer illness duration (p < 0.01), higher OCD severity scores (p = 0.01), and greater comorbidity (p < 0.01) than those without. In Caucasians (n=343), genotype frequency differed significantly between groups for ANKK1 rs1800497, with more OCD patients with symmetry symptoms being homozygous for the A2 (CC) genotype (χ2 = 7.296; p = 0.026). Conclusion: Symmetry symptoms have some distinct clinical features and may represent a marker of severity in OCD. However, clinical associations, in combination with the association found with the ANKK1 rs1800497 A2 variant, suggest that primary symmetry symptoms may represent a distinctive clinical and psychobiological profile.
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Humanos , Masculino , Feminino , Adolescente , Adulto , Adulto Jovem , Dopamina/genética , Transtorno Obsessivo-Compulsivo/diagnóstico , Transtorno Obsessivo-Compulsivo/genética , Polimorfismo Genético/genética , Transtornos de Estresse Pós-Traumáticos/complicações , Índice de Gravidade de Doença , Proteínas Serina-Treonina Quinases/genética , Sequências de Repetição em Tandem/genética , Transtorno Depressivo Maior/complicações , Perfeccionismo , Genótipo , Pessoa de Meia-Idade , Transtorno Obsessivo-Compulsivo/complicaçõesRESUMO
OBJECTIVE: In obsessive-compulsive disorder (OCD), symmetry-related symptoms may be important. Although clinical correlates of symmetry-related symptoms have been identified in OCD, few data exist on genetic associations. Animal studies indicate involvement of dopamine in symmetry-related behavior, suggesting this may be relevant to analogous symptoms in OCD. Alterations in dopamine may also reflect environmental influences. However, the association of symmetry-related symptomatology, early adversity, and polymorphisms in dopaminergic genes has not been investigated in OCD. METHODS: Clinical information and polymorphisms in key dopaminergic genes were compared between OCD patients with primary symmetry symptoms and those without. RESULTS: OCD patients with primary symmetry symptoms comprised 46.6% (n=210) of the sample (n=451), and were older (p < 0.01), had longer illness duration (p < 0.01), higher OCD severity scores (p = 0.01), and greater comorbidity (p < 0.01) than those without. In Caucasians (n=343), genotype frequency differed significantly between groups for ANKK1 rs1800497, with more OCD patients with symmetry symptoms being homozygous for the A2 (CC) genotype (χ2 = 7.296; p = 0.026). CONCLUSION: Symmetry symptoms have some distinct clinical features and may represent a marker of severity in OCD. However, clinical associations, in combination with the association found with the ANKK1 rs1800497 A2 variant, suggest that primary symmetry symptoms may represent a distinctive clinical and psychobiological profile.
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Dopamina/genética , Transtorno Obsessivo-Compulsivo/diagnóstico , Transtorno Obsessivo-Compulsivo/genética , Adolescente , Adulto , Transtorno Depressivo Maior/complicações , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Transtorno Obsessivo-Compulsivo/complicações , Perfeccionismo , Polimorfismo Genético/genética , Proteínas Serina-Treonina Quinases/genética , Índice de Gravidade de Doença , Transtornos de Estresse Pós-Traumáticos/complicações , Sequências de Repetição em Tandem/genética , Adulto JovemRESUMO
BACKGROUND/AIM: Currently, the equipment and techniques available to assess brain function during dynamic exercise are limited, which has restricted our knowledge of how the brain regulates exercise. This study assessed the brain areas activated during cycling by making use of a novel cycle ergometer, constructed to measure functional MRI (fMRI) brain images during dynamic exercise. Furthermore, we compared brain activation at different levels of ratings of perceived exertion (RPE) generated during the exercise. METHODS: Seven healthy adults performed cycling exercise in a novel MRI compatible cycle ergometer while undergoing brain fMRI. Participants completed a cycling block protocol comprising six trials of 2â min cycling with 16-s intervals between trials. Participants reported their RPE every minute through an audio link. The MRI cycling ergometer transferred the torque generated on the ergometer through a cardan system to a cycling ergometer positioned outside the MRI room. For data analysis, the effects of cycling as opposed to rest periods were examined after motion correction. RESULTS: The multiparticipant analysis revealed in particular the activation of the cerebellar vermis and precentral and postcentral gyrus when periods of cycling versus rest were compared. Single participant analysis in four participants revealed that activation of the posterior cingulate gyrus and precuneus occurred in cycling blocks perceived as 'hard' compared with exercise blocks that were less demanding. CONCLUSIONS: The present study offers a new approach to assess brain activation during dynamic cycling exercise, and suggests that specific brain areas could be involved in the sensations generating the rating of perceived exertion.