Análisis clínico y genético en una muestra de niños colombianos con diagnóstico de trastorno obsesivo compulsivo
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Autores
Ávila Campos, Jorge Enrique
Director
Vásquez, Rafael (Thesis advisor)
Tipo de contenido
Trabajo de grado - Maestría
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EspañolFecha de publicación
2014
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Resumen
El trastorno obsesivo compulsivo (TOC) es un desorden con una etiología compleja. Esta investigación pretendió hacer una caracterización clínica y genética de pacientes colombianos de entre 7 y 17 años diagnosticados con TOC; se aplicaron pruebas para el diagnóstico del trastorno y cuatro pruebas neuropsicológicas para evaluar funciones ejecutivas, se realizó el análisis de 5 polimorfismos genéticos; a saber, COMT, MAO-A, HTTLPR, HT2A y SLC1A1, adicionalmente a un grupo de 15 pacientes y 15 controles se les realizó un estudio de imagen cerebral con morfometría basada en vóxeles(VBM) para buscar diferencias en volumen de sustancia gris entre los grupos. Se analizó una muestra de 65 controles y 63 niños y adolescentes diagnosticados con trastorno obsesivo compulsivo de los cuales se tomaron 36 familias con un hijo como probando. Los resultados no permiten encontrar una asociación entre los genotipos y un riesgo para el trastorno; tanto en el estudio de casos y controles como en el de familias, así mismo, las pruebas neuropsicológicas no fueron sensibles para encontrar diferencias entre los grupos en la mayoría de subpuntajes, excepto en conceptualización y número de errores del WCST: al hacer un análisis de la relación entre genotipos y subpuntajes de las pruebas se encuentran asociaciones entre la presencia de ciertos alelos de MAO-A, SLAC1A1, HTTLPR y HT2A y los puntajes del test. Se propone que la falta de asociación entre genotipos y trastorno puede deberse a tres posibles razones: un tamaño reducido de la muestra, criterios demasiado amplios para el diagnóstico y coincidencia con reportes de la literatura en los que no se encuentra asociación entre los genes mencionados y el trastorno.
Abstract. Obsessive compulsive disorder ( OCD) is a disorder with a complex etiology . This research sought to make a clinical and genetic characterization of Colombian patients between 7 and 17 years diagnosed with OCD ; tests for the diagnosis of the disorder and four neuropsychological tests to assess executive functions were applied , analysis of 5 genetic polymorphisms was performed , namely , COMT , MAO -A, HTTLPR , SLC1A1 HT2A and additionally a group of 15 patients and 15 controls underwent brain imaging study with voxel-based morphometry ( VBM ) to search for differences in gray matter volume between groups . A sample of 65 controls and 63 children and adolescents diagnosed with obsessive compulsive disorder and 36 families were analyzed. The results do not find an association between genotypes and risk for the disorder , both in the case-control study and in the family , likewise, the neuropsychological tests were not sensitive to find differences between groups in most subscores except conceptualization and WCST number of errors : by making an analysis of the relationship between genotypes and subscores are testing associations between the presence of certain alleles of MAO -A, SLAC1A1 , HTTLPR and HT2A and test scores . It is proposed that the lack of association between genotypes and disorder may be due to three possible reasons: small sample , too broad criteria for diagnosis and agreement with literature reports in which no association was found between the genes mentioned and disorder .
Abstract. Obsessive compulsive disorder ( OCD) is a disorder with a complex etiology . This research sought to make a clinical and genetic characterization of Colombian patients between 7 and 17 years diagnosed with OCD ; tests for the diagnosis of the disorder and four neuropsychological tests to assess executive functions were applied , analysis of 5 genetic polymorphisms was performed , namely , COMT , MAO -A, HTTLPR , SLC1A1 HT2A and additionally a group of 15 patients and 15 controls underwent brain imaging study with voxel-based morphometry ( VBM ) to search for differences in gray matter volume between groups . A sample of 65 controls and 63 children and adolescents diagnosed with obsessive compulsive disorder and 36 families were analyzed. The results do not find an association between genotypes and risk for the disorder , both in the case-control study and in the family , likewise, the neuropsychological tests were not sensitive to find differences between groups in most subscores except conceptualization and WCST number of errors : by making an analysis of the relationship between genotypes and subscores are testing associations between the presence of certain alleles of MAO -A, SLAC1A1 , HTTLPR and HT2A and test scores . It is proposed that the lack of association between genotypes and disorder may be due to three possible reasons: small sample , too broad criteria for diagnosis and agreement with literature reports in which no association was found between the genes mentioned and disorder .