Genetic analysis of activity, brain and behavioral associations in extended families with heavy genetic loading for bipolar disorder.

BACKGROUND: Disturbed sleep and activity are prominent features of bipolar disorder type I (BP-I). However, the relationship of sleep and activity characteristics to brain structure and behavior in euthymic BP-I patients and their non-BP-I relatives is unknown. Additionally, underlying genetic relationships between these traits have not been investigated. METHODS: Relationships between sleep and activity phenotypes, assessed using actigraphy, with structural neuroimaging (brain) and cognitive and temperament (behavior) phenotypes were investigated in 558 euthymic individuals from multi-generational pedigrees including at least one member with BP-I. Genetic correlations between actigraphy-brain and actigraphy-behavior associations were assessed, and bivariate linkage analysis was conducted for trait pairs with evidence of shared genetic influences. RESULTS: More physical activity and longer awake time were significantly associated with increased brain volumes and cortical thickness, better performance on neurocognitive measures of long-term memory and executive function, and less extreme scores on measures of temperament (impulsivity, cyclothymia). These associations did not differ between BP-I patients and their non-BP-I relatives. For nine activity-brain or activity-behavior pairs there was evidence for shared genetic influence (genetic correlations); of these pairs, a suggestive bivariate quantitative trait locus on chromosome 7 for wake duration and verbal working memory was identified. CONCLUSIONS: Our findings indicate that increased physical activity and more adequate sleep are associated with increased brain size, better cognitive function and more stable temperament in BP-I patients and their non-BP-I relatives. Additionally, we found evidence for pleiotropy of several actigraphy-behavior and actigraphy-brain phenotypes, suggesting a shared genetic basis for these traits.

Genome-wide mapping of brain phenotypes in extended pedigrees with strong genetic loading for bipolar disorder.

Bipolar disorder is a highly heritable illness, associated with alterations of brain structure. As such, identification of genes influencing inter-individual differences in brain morphology may help elucidate the underlying pathophysiology of bipolar disorder (BP). To identify quantitative trait loci (QTL) that contribute to phenotypic variance of brain structure, structural neuroimages were acquired from family members (n = 527) of extended pedigrees heavily loaded for bipolar disorder ascertained from genetically isolated populations in Latin America. Genome-wide linkage and association analysis were conducted on the subset of heritable brain traits that showed significant evidence of association with bipolar disorder (n = 24) to map QTL influencing regional measures of brain volume and cortical thickness. Two chromosomal regions showed significant evidence of linkage; a QTL on chromosome 1p influencing corpus callosum volume and a region on chromosome 7p linked to cortical volume. Association analysis within the two QTLs identified three SNPs correlated with the brain measures.

Características antropométricas y capacidad cardiorrespiratoria de corredores de montaña masculinos y femeninos / Anthropometric characteristics and cardiorespiratory capacity of male and female trail runners

INTRODUCCIÓN: Los objetivos de este estudio fueron comparar las características antropométricas y cardiorrespiratorias de corredores de montaña masculinos y femeninos, y examinar la asociación entre las variables antropométricas y cardiorrespiratorias. MATERIAL Y MÉTODOS: Un total de 48 corredores de montaña, 16 mujeres y 32 hombres participaron en el estudio. Se midieron los parámetros antropométricos y se realizó un test incremental máximo en tapiz rodante con rampa para la valoración cardiorrespiratoria. RESULTADOS: Los resultados arrojaron diferencias significativas en las características antropométricas correspondientes a masa, talla, índice de masa corporal (IMC), perímetros, diámetros, % masa muscular, % masa residual y componente mesomórfico entre hombres y mujeres, siendo significativamente superiores en el grupo masculino (p < 0,05). El grupo femenino obtuvo en pliegues tricipital, muslo, pierna eilecorestal, así como en la suma Σ 8 pliegues, % de grasa, en la masa grasa, masa ósea y en el componente endomórfico valores significativamente mayores (p < 0,05). Con respecto a la capacidad cardiorrespiratoria, el grupo masculino obtuvo valores significativamente mayores en el volumen sistólico inicial (p < 0,01, TE = -1,45, alto), consumo de oxígeno en el segundo umbral ventilatorio (VO2VT2) (p < 0,01, TE = -1,66, alto) y consumo de oxígeno máximo (VO2máx) (p < 0,05, TE = -1,78, alto). Se obtuvo una correlación alta entre la suma de 8 pliegues y el VO2máx (r = -0,79, p < 0,01), entre el % de grasa y el VO2máx (r = -0,81, p < 0,01) y entre el % de grasa y el VO2VT2 (r = -0,79, p < 0,01). CONCLUSIONES: Los resultados parecen evidenciar diferencias entre corredores de montaña hombres y mujeres en las características antropométricas y en la capacidad cardiorrespiratoria y que las características antropométricas pueden influir en el rendimiento cardiorrespiratorio de los corredores de montaña

INTRODUCTION: The objectives of this study were to compare the anthropometric characteristics and the cardiorespiratory capacity of male and female mountain runners, and to examine the association between anthropometric and cardiorespiratory variables. MATERIAL AND METHOD: A total of 48 mountain runners, 16 women and 32 men take part in the study. Anthropometric parameters were measured and a maximum incremental test was performed on treadmill with ramp for cardiorespiratory assessment. RESULTS: The results showed significant differences in the anthropometric characteristics corresponding to mass, height, body mass index (BMI), perimeters, diameters, % muscle mass, % residual mass and mesomorphic component between men and women, being significantly higher in the male group (p < 0.05). The female group obtained significantly higher values (p < 0.05) in tricipital, thigh, leg and ilecorestal skinfolds, as well as in 8 folds sum, % fat, fat mass, bone mass and in the endomorphic component. With respect to cardiorespiratory capacity, the male group obtained significantly higher values in the initial systolic volume (p < 0.01, TE = -1.45, large), oxygen consumption at the second ventilatory threshold (VO2VT2) (p < 0.01, TE = -1.66, large) and maximum oxygen consumption (VO2max) (p < 0.05, TE = -1.78, large). A large correlation was obtained between the sum of 8 skinfolds and the VO2max (r = -0.79, p < 0.01), between the % fat and the VO2max (r = -0.81, p < 0.01) and between % fat and VO2VT2 (r = -0.79, p < 0.01). CONCLUSIONS: The results seem to show differences between male and female mountain runners in anthropometric characteristics and cardiorespiratory capacity and that anthropometric characteristics can influence the cardiorespiratory performance of mountain runners

Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates.

Current evidence from case/control studies indicates that genetic risk for psychiatric disorders derives primarily from numerous common variants, each with a small phenotypic impact. The literature describing apparent segregation of bipolar disorder (BP) in numerous multigenerational pedigrees suggests that, in such families, large-effect inherited variants might play a greater role. To identify roles of rare and common variants on BP, we conducted genetic analyses in 26 Colombia and Costa Rica pedigrees ascertained for bipolar disorder 1 (BP1), the most severe and heritable form of BP. In these pedigrees, we performed microarray SNP genotyping of 838 individuals and high-coverage whole-genome sequencing of 449 individuals. We compared polygenic risk scores (PRS), estimated using the latest BP1 genome-wide association study (GWAS) summary statistics, between BP1 individuals and related controls. We also evaluated whether BP1 individuals had a higher burden of rare deleterious single-nucleotide variants (SNVs) and rare copy number variants (CNVs) in a set of genes related to BP1. We found that compared with unaffected relatives, BP1 individuals had higher PRS estimated from BP1 GWAS statistics (P = 0.001 ~ 0.007) and displayed modest increase in burdens of rare deleterious SNVs (P = 0.047) and rare CNVs (P = 0.002 ~ 0.033) in genes related to BP1. We did not observe rare variants segregating in the pedigrees. These results suggest that small-to-moderate effect rare and common variants are more likely to contribute to BP1 risk in these extended pedigrees than a few large-effect rare variants.

Artifex spondet peritiam artis (The artisan responds to his art) / Artifex spondet peritiam artis (El artesano responde de su arte)

Bioethics fits into psychiatric practice in an incisive - sometimes uncomfortable - way, as a discourse and also as a practice that fully brings together care and clinical research under the aegis of protecting human dignity. Psychiatry tends to be discussed in terms of care in the therapeutic tradition, on the one hand, and unlimited monitoring of the findings from technoscience, on the other. On this point, it is worth cautioning that the dialogue between psychiatry and bioethics is framed within a dynamic of mutual questioning: from a deterministic perspective, advances in technoscience question the capacity of humans to make truly autonomous decisions, it is even feasible that the brain precedes a course of action before that phenomenon becomes known to the conscious mind. In this problematic context, it is known that psychoactive drugs or procedures that act on the brain change the moral decision-making structure, although so to do the disorders that they seek to correct or treat.

La bioética se inserta en la práctica psiquiátrica de una manera incisiva, a veces incómoda, como discurso y también como práctica que integra plenamente la atención y la investigación clínica bajo la égida de la protección de la dignidad humana. La psiquiatría tiende a discutirse en términos de atención en la tradición terapéutica, por un lado, y el seguimiento ilimitado de los hallazgos de la tecnociencia, por el otro. Sobre este punto, cabe advertir que el diálogo entre psiquiatría y bioética se enmarca dentro de una dinámica de cuestionamiento mutuo: desde una perspectiva determinista, los avances de la tecnociencia cuestionan la capacidad del ser humano para tomar decisiones verdaderamente autónomas, incluso es factible que el cerebro precede a un curso de acción antes de que ese fenómeno sea conocido por la mente consciente. En este contexto problemático, se sabe que los psicofármacos o procedimientos que actúan sobre el cerebro cambian la estructura de toma de decisiones morales, aunque también lo hacen los trastornos que buscan corregir o tratar.

Genetic contributions to circadian activity rhythm and sleep pattern phenotypes in pedigrees segregating for severe bipolar disorder.

Abnormalities in sleep and circadian rhythms are central features of bipolar disorder (BP), often persisting between episodes. We report here, to our knowledge, the first systematic analysis of circadian rhythm activity in pedigrees segregating severe BP (BP-I). By analyzing actigraphy data obtained from members of 26 Costa Rican and Colombian pedigrees [136 euthymic (i.e., interepisode) BP-I individuals and 422 non-BP-I relatives], we delineated 73 phenotypes, of which 49 demonstrated significant heritability and 13 showed significant trait-like association with BP-I. All BP-I-associated traits related to activity level, with BP-I individuals consistently demonstrating lower activity levels than their non-BP-I relatives. We analyzed all 49 heritable phenotypes using genetic linkage analysis, with special emphasis on phenotypes judged to have the strongest impact on the biology underlying BP. We identified a locus for interdaily stability of activity, at a threshold exceeding genome-wide significance, on chromosome 12pter, a region that also showed pleiotropic linkage to two additional activity phenotypes.

Multisystem component phenotypes of bipolar disorder for genetic investigations of extended pedigrees.

IMPORTANCE: Genetic factors contribute to risk for bipolar disorder (BP), but its pathogenesis remains poorly understood. A focus on measuring multisystem quantitative traits that may be components of BP psychopathology may enable genetic dissection of this complex disorder, and investigation of extended pedigrees from genetically isolated populations may facilitate the detection of specific genetic variants that affect BP as well as its component phenotypes. OBJECTIVE: To identify quantitative neurocognitive, temperament-related, and neuroanatomical phenotypes that appear heritable and associated with severe BP (bipolar I disorder [BP-I]) and therefore suitable for genetic linkage and association studies aimed at identifying variants contributing to BP-I risk. DESIGN, SETTING, AND PARTICIPANTS: Multigenerational pedigree study in 2 closely related, genetically isolated populations: the Central Valley of Costa Rica and Antioquia, Colombia. A total of 738 individuals, all from Central Valley of Costa Rica and Antioquia pedigrees, participated; among them, 181 have BP-I. MAIN OUTCOMES AND MEASURES: Familial aggregation (heritability) and association with BP-I of 169 quantitative neurocognitive, temperament, magnetic resonance imaging, and diffusion tensor imaging phenotypes. RESULTS: Of 169 phenotypes investigated, 126 (75%) were significantly heritable and 53 (31%) were associated with BP-I. About one-quarter of the phenotypes, including measures from each phenotype domain, were both heritable and associated with BP-I. Neuroimaging phenotypes, particularly cortical thickness in prefrontal and temporal regions as well as volume and microstructural integrity of the corpus callosum, represented the most promising candidate traits for genetic mapping related to BP based on strong heritability and association with disease. Analyses of phenotypic and genetic covariation identified substantial correlations among the traits, at least some of which share a common underlying genetic architecture. CONCLUSIONS AND RELEVANCE: To our knowledge, this is the most extensive investigation of BP-relevant component phenotypes to date. Our results identify brain and behavioral quantitative traits that appear to be genetically influenced and show a pattern of BP-I association within families that is consistent with expectations from case-control studies. Together, these phenotypes provide a basis for identifying loci contributing to BP-I risk and for genetic dissection of the disorder.

Características de los suicidios de áreas rurales y urbanas de Antioquia, Colombia / Characteristics of suicides in rural and urban areas in Antioquia, Colombia

Objetivo: Determinar si existen diferencias entre áreas rurales y urbanas de Antioquia en las características asociadas con el suicidio. Método: Se compararon 79 sujetos provenientes de áreas rurales y 75 de áreas urbanas de Antioquia. Se hizo autopsia psicológica y se calcularon razones de prevalencia (RP) (frecuencia de la característica en zona rural/frecuencia de la característica en zona urbana). Resultados: Las características asociadas de manera independiente con provenir de área rural y urbana fueron: “momento del suicidio durante la noche” (RP = 0,65; IC 95%: 0,48-0,89) y “vivir solo” (RP = 0,40; IC 95%: 0,17-0,98), que fueron más frecuentes en zona urbana, y “envenenamiento con pesticidas”, que ocurrió más en zona rural (RP = 1,80; IC 95%: 1,39-2,34). Conclusiones: Los individuos suicidas provenientes de zonas rurales y urbanas tenían características diferentes. Ello puede tener implicaciones para el diseño de las estrategias de prevención del suicidio en cada una de las zonas. Se requieren otros estudios para determinar los factores de riesgo propios de cada área...

Objective: To determine differences in characteristics associated with suicide between rural and urban populations from Antioquia. Method: 79 subjects from rural areas and 75 subjects from urban areas were compared. Psychological autopsy was done and prevalence ratios (PR) (frequency of characteristic in rural zone/frequency of characteristic in urban zone) were calculated. Results: The characteristics that associated independently with coming from rural or urban areas were: “suicide during the night” (PR = 0.65; 95% CI: 0.48-0.89) and “living alone” (PR = 0.40; 95% CI: 0.17-0.98), which were more frequent in urban areas, and “pesticide poisoning” which was more frequent in rural areas (PR = 1.80; 95% CI: 1.39-2.34). Conclusions: Individuals who committed suicide from rural and urban areas have different characteristics. This finding might have implications for the design of preventive strategies in each zone. Additional studies are required to determine specific risk factors in urban and rural areas...

Exploring epistasis in candidate genes for antisocial personality disorder.

OBJECTIVE: To identify and characterize high-order gene-to-gene interactions in antisocial personality disorder (ASPD). METHODS: Participants for case-control study were selected from the inmate male population in Bellavista prison from Medellin. The study included 310 individuals with ASPD and 200 with no ASPD. Diagnoses were made according to a best-estimate procedure based on a semistructured interview (diagnostic interview for genetic studies 3.0). We genotyped some single-nucleotide polymorphisms in candidate genes with main serotonin pathway effects. The gene-gene interaction was examined using the multifactor dimensionality reduction method version 2.0.α. We assessed model sizes of 2 and 3 loci and counted the number of replicates that contained the causal loci in the final best model that was identified using 10-fold cross validation. RESULTS: We find epistatic interaction with catechol-O-methyl transferase (COMT), tryptophan hydroxylase, and 5-HTR2A (serotonin receptor) with ASPD. This data supports an important role of polymorphism in serotonin receptors and low enzyme activity of COMT for susceptibility to ASPD. CONCLUSION: This study suggests that gene interactions between genetic variants in COMT, 5-HTR2A and tryptophan hydroxylase gene would be associated with ASPD and influence the dopamine rewards pathways and modulate serotonin levels in ASPD.

La ética del cuidado en el contexto de la salud sexual y reproductiva / Ethics of care in sexual and reproductive health context

La ética del cuidado es un constructo teórico y práctico que busca resaltar la vinculación esencialmente humana y emocional entre el profesional de la salud y el paciente. En este artículo se propone su instrumentación en el campo de la salud sexual y, principalmente, en la difusión y establecimiento de los derechos sexuales. Dicha estrategia está orientada a propiciar el diálogo bioético entre los profesionales de la salud y las personas que reciben su cuidado, puesto que la reciprocidad de conocimientos e información genera empatía y trato humanizado. Se consideran la definición de salud sexual, la declaración de los Derechos Sexuales y la ética de la sexualidad como elementos que se integran finalmente en la ética del cuidado de las personas que acuden a los servicios de salud en el contexto latinoamericano.

Ethics of care is a theoretical and practical construct which highlights the essentially human and emotional bond between the health care professional and the patient. This essay emphasizes its application to the field of reproductive health and, mainly, to the dissemination and setting of the reproductive rights. Such strategy is oriented towards allowing a bioethics dialogue among health care professionals and whoever receives their care, since knowledge and information reciprocity generates empathy and humane treatment. The definition of sexual health, the Declaration of Sexual Rights and sexual ethics are considered integrated elements in the ethics of care for those looking for health care services in the Latin American context.

A ética do cuidado é um construto teórico e prático que busca ressaltar a vinculação essencialmente humana e emocional entre o profissional da saúde e o doente. Neste artigo se propõe sua instrumentalização no campo da saúde sexual e, principalmente, na difusão e estabelecimento dos direito sexuais. Tal estratégia orienta-se na perspectiva de propiciar o diálogo bioético entre os profissionais de saúde e as pessoas que recebem seu cuidado, posto que a reciprocidade de conhecimentos e informação gera empatia e trato humanizado no cuidado em saúde. São consideradas a definição de saúde sexual, a declaração dos Direitos Sexuais e a ética da sexualidade, como elementos que se integram finalmente na ética do cuidado, das pessoas que procuram os serviços de saúde no contexto latinoamericano.

Confidencialidad de la orientación sexual en psiquiatría / Confidentiality of sexual orientation in psychiatry

Introduction: The objective of this study was to explore which are the limits to confidentiality that 31 psychiatrists, from Santiago (Chile) and Medellín (Colombia), consider as appropriate when dealing with information on sexual orientation in psychiatric practice. Methods: A questionnaire containing twenty assertions was applied to explore agreement with them. A scale ranging from 1 (no agreement at all) to 5 (complete agreement) was used. Results: There was agreement on the need of inquiring sexual orientation during the psychiatric encounter. There was no agreement, however, on the appropriateness of registering this information in the medical record, irrespective of the sexual orientation of the patient. History of sexual abuse of children or disabled people was considered as a valid waiver of this duty of confidentiality when answering a judicial request. On the contrary, the requirements of information coming from insurance companies were not considered as valid reasons for breaching confidentiality. Psychiatrists do not agree with disclosing their sexual orientation to patients. Conclusion: Psychiatrists agree in a number of situations in which sexual orientation of patients should be either disclosed or kept confidential.

Introducción: El objetivo de este estudio fue conocer cuáles son los límites que 31 psiquiatras de Santiago (Chile) y Medellín (Colombia) consideran en la confidencialidad de la orientación sexual de los pacientes, durante la atención psiquiátrica. Métodos: Se empleó una encuesta anónima con veinte afirmaciones y cinco opciones de respuesta según el grado de acuerdo. Se hizo el análisis comparativo de las medianas para los grados de acuerdo. Resultados: Los participantes estiman pertinente indagar por la orientación sexual durante la consulta pero no registrarla en la ficha clínica, independientemente de que sea homosexual, bisexual o heterosexual. El abuso sexual de menores de edad o personas con discapacidad mental o física es un límite que permite la ruptura de la confidencialidad, ante una solicitud legal. Por el contrario, se encontró rechazo al registro de la orientación sexual en licencias médicas o certificados médicos para compañías de seguro o de salud, en otras situaciones clínicas planteadas se conservó esta tendencia a la conservación confidencial. Los psiquiatras no estuvieron de acuerdo con revelar su propia orientación sexual a los pacientes. Conclusiones: Existen límites tanto para la conservación como para la revelación de la información confidencial de la orientación sexual, con grados similares de acuerdo entre los psiquiatras.

Aproximación bioética a las terapias reparativas: tratamiento para el cambio de la orientacion homosexual / Bioethical approach to re-constructive therapies: treatment to change the homosexual orientation

La articulación temática entre bioética y estudios de género resulta evidente, además de vigente, en el análisis de las llamadas terapias reparativas para la "corrección" o cambio de la orientación homosexual. En este artículo se exponen los elementos básicos que, a manera de insumos, permiten el diálogo bioético sobre este asunto. Se exponen los fundamentos de la orientación sexual y su reconocimiento como un derecho humano. Además, se toman algunos elementos teóricos respecto del empleo del poder médico como mecanismo de domesticación. En la parte final se analizan algunas características de las terapias reparativas y se exponen las razones que no hacen éticamente sustentable su aplicación.

The interrelation between bioethics and gender studies is clear and contingent. It is obvious in the analysis of the re-constructive therapies for the "correction" or change of the homosexual orientation. This paper shows the fundamental elements which allow the bioethics dialogue about it in a summary way. Also, the fundamentals of the sexual orientation and their acknowledgement as a human right are exposed. Furthermore, some theoretical aspects are taken with respect to the use of physician power in the domesticating process. The paper finalizes analyzing some characteristics of the re-constructive therapies and showing the ethical arguments which refuse their application.

A articulação temática entre bioética e estudos de gênero resulta evidente, além de vigente, na análise das chamadas terapias reparadoras de "correção" ou mudança da orientação homossexual. Neste artigo se expõem os elementos básicos que, em forma de insumos, permitem o diálogo bioético sobre este assunto. São apresentados os fundamentos da orientação sexual e seu reconhecimento como um direito humano. Além disso, aborda-se alguns elementos teóricos a respeito do emprego do poder médico como mecnismo de domestificação. Na parte final se analizam algumas características das terapias reparadoras e se expõe as razões que não tornam eticamente sustentável sua aplicação.

Bioética y terapia electroconvulsiva / Bioethics and electroconvulsive therapy

En este artículo se analiza la relación entre bioética y terapia electroconvulsiva. se distinguen dos tensiones: la primera confronta el principio de no maleficencia -no causar daño- con el ofrecimiento de opciones libres para el acceso a un tratamiento -principio de justicia-; la segunda se refiere a conservar la autonomía del paciente frente a la beneficiencia médica, cuando se emplea el modelo de paternalismo médico. el autor propone que las limitaciones de información adecuada son la causa de dificultades en el diálogo bioético, tanto para el personal de salud como para los miembros de la comunidad en general. El primer objetivo es superar los mitos acerca de la terapia, como el daño cerebral, y luego tener una discusión racional a la luz del conocimiento actual. El psiquiatra debe proporcionar una explicación detallada de los beneficios y riesgos de la terapia electroconvulsiva, bajo anestesia general y relajación muscular, durante el proceso de consentimiento informado.

[Validation of the Diagnostic Interview for Genetic Studies (DIGS) in Colombia]. / Validación de la entrevista diagnóstica para estudios genéticos (DIGS) en Colombia.

An interview tool, Diagnostic Interview for Genetic Studies (DIGS 3.0), was translated into Spanish for application in studies of psychiatric disorders in Colombia. Two Spanish translations of the original English version of DIGS were prepared and back-translated into English. A review committee verified the linguistic and cultural equivalence of the translations. The evaluator and test-retest reliability were assessed calculating Cohen's kappa for samples of 65 and 91 patients respectively. DIGS proved valid in both appearance and content. The confidence interval (C.I.) was excellent for schizophrenia (kappa = 0.81, C.I. 95% = 0.68-0.93), bipolar disorder (kappa = 0.87, C.I. 95% = 0.75-0.99), major depressive disorder (kappa = 0.86, C.I. 95% = 0.70-1.00), and for a normal diagnosis (kappa = 0.65, C.I. 95% = 0.41-0.89); it was good for other psychiatric diagnosis (kappa = 0.65, C.I. 95% = 0.41-0.89) and poor for schizoaffective disorder (kappa = 0.37, C.I. 95% = -0.02-0.76). Test-retest reliability was excellent for all diagnoses (kappa > 0.8), except for "other psychiatric diagnoses" (kappa = 0.64, C.I. 95% = 0.31-0.96). The Spanish translation of the DIGS was comprehensible, with face and content validity, and good test-retest and evaluator reliability. This translation will be a useful tool for genetic studies of psychiatric disorders in Latin America, particularly where schizophrenia and affective disorders are involved.

Validación de la entrevista diagnóstica para estudios genéticos (DIGS) en Colombia / Validation of the Diagnostic Interview for Genetic Studies (DIGS) in Colombia

Objetivo: validar la entrevista diagnóstica para estudios genéticos (DIGS 3.0) en Colombia. Métodos: se hicieron dos traducciones del inglés al español del DIGS y se hizo traducción en sentido inverso (al inglés) de cada una. Un comité de revisión verificó la equivalencia translingüística y transcultural. Se evaluó la confiabilidad examen-reexamen e interevaluador del DIGS 3.0 en 65 y 91 pacientes, respectivamente, mediante el cálculo de kappa de Cohen. Resultados: el DIGS 3.0 mostró ser comprensible, con validez de apariencia y de contenido. La confiabilidad interevaluador fue excelente para esquizofrenia (kapa=0,81, IC95%: 0,68-0,93), trastorno bipolar (kapa=0,87, IC95%: 0,75-0,99), trastorno depresivo mayor (kapa=0,86, IC95%: 0,7- 1) y ausencia de trastorno psiquiátrico (kapa=0,88, IC95%: 0,71-1); fue buena para otro diagnóstico psiquiátrico (kapa=0,65, IC95%: 0,41-0,89) y pobre para trastorno esquizoafectivo (kapa=0,37, IC95%: -0,02-0,76). La confiabilidad examen-reexamen fue excelente para todos los diagnósticos (kapa>0,8), excepto para otro diagnóstico psiquiátrico (kapa=0,64, IC95%: 0,31-0,96), donde fue buena. Conclusiones: la versión en español del DIGS para Colombia mostró comprensibilidad, validez de apariencia y de contenido, y confiabilidad examen-reexamen e interevaluador. Es una herramienta útil para estudios genéticos en esquizofrenia y en trastornos afectivos.

An interview tool, Diagnostic Interview for Genetic Studies (DIGS 3.0), was translated into Spanish for application in studies of psychiatric disorders in Colombia. Two Spanish translations of the original English version of DIGS were prepared and backtranslated into English. A review committee verified the linguistic and cultural equivalence of the translations. The evaluator and test-retest reliability were assessed calculating Cohen’s kappa for samples of 65 and 91 patients respectively. DIGS proved valid in both appearance and content. The confidence interval (C.I.) was excellent for schizophrenia (kappa=0.81, C.I. 95% = 0.68-0.93), bipolar disorder (kappa=0.87, C.I. 95% = 0.75-0.99), major depressive disorder (kappa=0.86, C.I. 95% = 0.70-1.00), and for a normal diagnosis (kappa=0.65, C.I. 95% = 0.41-0.89); it was good for other psychiatric diagnosis (kappa=0.65, C.I. 95% = 0.41-0.89) and poor for schizoaffective disorder (kappa=0.37, C.I. 95% = -0.02-0.76). Test-retest reliability was excellent for all diagnoses (kappa>0.8), except for "other psychiatric diagnoses" (kappa=0.64, C.I. 95% = 0.31-0.96). The Spanish translation of the DIGS was comprehensible, with face and content validity, and good test-retest and evaluator reliability. This translation will be a useful tool for genetic studies of psychiatric disorders in Latin America, particularly where schizophrenia and affective disorders are involved.