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Background: Accurate diagnosis of bipolar disorder (BD) is difficult in clinical practice, with an average delay between symptom onset and diagnosis of about 7 years. A key reason is that the first manic episode is often preceded by a depressive one, making it difficult to distinguish BD from unipolar major depressive disorder (MDD). Aims: Here, we use genome-wide association analyses (GWAS) to identify differential genetic factors and to develop predictors based on polygenic risk scores that may aid early differential diagnosis. Methods: Based on individual genotypes from case-control cohorts of BD and MDD shared through the Psychiatric Genomics Consortium, we compile case-case-control cohorts, applying a careful merging and quality control procedure. In a resulting cohort of 51,149 individuals (15,532 BD cases, 12,920 MDD cases and 22,697 controls), we perform a variety of GWAS and polygenic risk scores (PRS) analyses. Results: While our GWAS is not well-powered to identify genome-wide significant loci, we find significant SNP-heritability and demonstrate the ability of the resulting PRS to distinguish BD from MDD, including BD cases with depressive onset. We replicate our PRS findings, but not signals of individual loci in an independent Danish cohort (iPSYCH 2015 case-cohort study, N=25,966). We observe strong genetic correlation between our case-case GWAS and that of case-control BD. Conclusions: We find that MDD and BD, including BD with a depressive onset, are genetically distinct. Further, our findings support the hypothesis that Controls - MDD - BD primarily lie on a continuum of genetic risk. Future studies with larger and richer samples will likely yield a better understanding of these findings and enable the development of better genetic predictors distinguishing BD and, importantly, BD with depressive onset from MDD.
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OBJECTIVE: To describe the process of translation and adaptation into Brazilian Portuguese of the Family Accommodation Scale for Obsessive-Compulsive Disorder - Interviewer-Rated (FAS-IR). METHOD: The process of translation and adaptation of the scale involved four bilingual health professionals. The scale was initially translated into Brazilian Portuguese independently by two professionals. Then, the two versions were compared, resulting in a preliminary Portuguese version that was administered to 15 relatives of patients diagnosed with obsessive-compulsive disorder (OCD) with different education levels, deliberately chosen to collect language adjustment suggestions. Subsequently, the scale was translated back into English independently by two other professionals. After comparing the two back translations, a new English version was generated. This version was reviewed and approved by the authors of the original scale. RESULTS: The Brazilian Portuguese version of the FAS-IR proved to be easily understood and can be used in relatives of OCD patients from different socioeconomic backgrounds. CONCLUSION: Adaptation of the FAS-IR into Brazilian Portuguese will enable health professionals to assess the level of accommodation in relatives of OCD patients and allows the development of future studies aimed at 1) studying the influence of family accommodation on maintaining and possibly facilitating OCD symptoms, and 2) assessing the effect of family accommodation on treatment outcomes in Portuguese-speaking populations.
OBJETIVO: Descrever o processo de tradução e adaptação para o português do Brasil da Family Accommodation Scale for Obsessive-Compulsive Disorder - Interviewer-Rated (FAS-IR). MÉTODO: O processo de tradução e adaptação da escala envolveu quatro profissionais de saúde bilíngues. A escala foi inicialmente traduzida de forma independente para o português do Brasil por dois profissionais. A seguir, as duas versões foram comparadas, resultando em uma versão inicial em português que foi aplicada a 15 familiares de pacientes com transtorno obsessivo-compulsivo (TOC), com diferentes níveis de instrução, deliberadamente escolhidos para coletar as sugestões de ajuste linguístico. Subsequentemente, a escala foi retrotraduzida independentemente por outros dois profissionais da saúde. Depois de comparar as duas retrotraduções, uma nova versão da escala foi gerada em inglês. Essa versão foi revisada e aprovada pelos autores da escala original. RESULTADOS: A versão em português do Brasil da escala FAS-IR mostrou ser facilmente compreendida e pode ser usada em familiares de pacientes com TOC de diferentes níveis socioeconômicos. CONCLUSÃO: A FAS-IR adaptada ao português do Brasil fará com que profissionais de saúde possam avaliar o nível de acomodação em familiares de pacientes com TOC e permitirá a realização de futuros estudos com os objetivos de 1) estudar a influência da acomodação familiar na manutenção e, possivelmente, na facilitação dos sintomas do TOC e 2) examinar o efeito da acomodação familiar sobre os resultados do tratamento em populações de países de língua portuguesa.
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OBJECTIVE: The main aims of this article are twofold. First, to assess perfectionism dimensions in obsessive-compulsive disorder and eating disorders in comparison with psychiatric control (depression/anxiety) and non-clinical control groups. Second, to examine if perfectionism is specifically related to these different clinical conditions. METHOD: Thirty-nine outpatients with obsessive-compulsive disorder, 24 outpatients with eating disorders, 65 outpatients with a diagnosis of depression and/or anxiety, and 70 non-clinical participants completed the Portuguese version of the Multidimensional Perfectionism Scale. RESULTS: Compared to non-clinical subjects, individuals of all clinical samples had significantly higher scores on Multidimensional Perfectionism Scale total score, Self-Oriented and Socially-Prescribed Perfectionism. There were no significantly differences in Self-Oriented Perfectionism and Multidimensional Perfectionism Scale total score in all the three clinical samples. Subjects from the eating disorders sample had significantly higher scores of Socially-Prescribed Perfectionism in comparison to obsessive-compulsive disorder and psychiatric control samples. CONCLUSION: Perfectionism showed to be related with this broad range of psychopathologies. However, the differences between eating disorders versus obsessive-compulsive disorder and psychiatric control on Socially-Prescribed Perfectionism warrant further investigation in order to clarify the specificity of this perfectionism dimension in eating disorders.
OBJETIVO: Este estudo tem dois objetivos principais. Primeiro, avaliar as dimensões do perfeccionismo no transtorno obsessivo-compulsivo e nos transtornos alimentares em comparação com duas amostras controle: psiquiátrica (depressão/ansiedade) e não clínica. Segundo, avaliar se o perfeccionismo é um traço de personalidade especificamente relacionado com estas diferentes condições clínicas. MÉTODO: 39 pacientes com transtorno obsessivo-compulsivo, 24 com transtornos alimentares, 65 com um diagnóstico de depressão e/ou ansiedade (todos estes pacientes encontravam-se em regime de ambulatório) e 70 controles não clínicos completaram a versão portuguesa da Multidimensional Perfectionism Scale. RESULTADOS: Comparativamente à amostra não clínica, todas as amostras clínicas apresentaram níveis significativamente mais elevados na Multidimensional Perfectionism Scale total, no Perfeccionismo Auto-Orientado e no Perfeccionismo-Socialmente-Prescrito. Não houve diferenças estatisticamente significativas no Perfeccionismo-Auto-Orientado e na Multidimensional Perfectionism Scale total nas três amostras clínicas. No entanto, a amostra com transtornos alimentares apresentou níveis significativamente mais elevados de Perfeccionismo-Socialmente-Prescrito, comparativamente à transtornos alimentares e à amostra psiquiátrica (depressão/ansiedade). CONCLUSÃO: O perfeccionismo revelou estar associado a uma grande variedade de condições psicopatológicas. Contudo, as diferenças encontradas entre a amostra de transtornos alimentares, de transtorno obsessivo-compulsivo e a psiquiátrica no Perfeccionismo-Socialmente-Prescrito necessitam de investigação subsequente no sentido de clarificar a especificidade desta dimensão com os transtornos alimentares.