Publication: Caracterización fenotípica de una muestra clínica de pacientes con síndrome de deleción 22q11
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2018-04-03
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Universidad Complutense de Madrid
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Abstract
Introducción. La región cromosómica 22q11.2 es una región particularmente susceptible a la génesis de reorganizaciones aberrantes generando deleciones o duplicaciones del material genético, produciendo un conjunto de anomalías del desarrollo que se producen por la pérdida (deleción o microdeleción) o duplicación de una región específica del brazo largo del cromosoma 22. El síndrome de deleción 22q11 (SD22q11) es el síndrome por microdeleción intersticial más prevalente, afectando a 1 de cada 20004000 nacidos vivos. La mayoría de los casos descritos son esporádicos, denominándose de novo, sin embargo entre un 5-15% de personas lo heredan como un rasgo autosómico dominante. Este síndrome es una de las causas genéticas más comunes de discapacidad intelectual y existen múltiples estudios que relacionan el síndrome con un amplio abanico de fenotipos psicopatológicos, relacionándose con el trastorno por déficit de atención (TDAH), los trastornos de ansiedad y el trastorno obsesivo-compulsivo (TOC) entre otros. Así mismo, actualmente se ha convertido en uno de los factores de riesgo más conocidos para desarrollar sintomatología psicótica y se ha estimado un riesgo aproximadamente 20 veces mayor de desarrollar esquizofrenia que en la población general. Justificación. El objetivo principal es la caracterización del fenotipo a nivel psicopatológico en una muestra clínica de personas con dicho síndrome, así como la evaluación de las diferencias existentes entre los sujetos de la muestra en función de la existencia o no de sintomatología psicótica a nivel de características sociodemográficas, consecución de hitos del desarrollo, complicaciones pre y perinatales y presencia de otras alteraciones psicopatológicas. Hasta el día de hoy no existen estudios en la población española con SD22q11...
Background. The chromosomal region 22q11.2 is particularly vulnerable to aberrant rearrangements, generating deletions or duplications, and producing a set of developmental anomalies. The 22q11 deletion syndrome (22q11DS) occurs at a frequency of around 1 in every 2,000-4,000 live births, making it the most common known interstitial deletion in humans. Most individuals (85-95%) have de novo mutations, however 5-15% of them are inherited from an affected parent as an autosomal dominant form. This syndrome is one of the most common genetic causes of intellectual disability and there are many studies that relate the syndrome to a wide range of psychopathological phenotypes, thus it is associated with attention deficit hyperactivity disorder (ADHD), anxiety disorders and obsessive-compulsive disorder (OCD) among others. It has also become one of the most known risk factors for developing psychotic symptoms and it has been estimated that the risk of developing a schizophrenia for an individual with 22q11DS approaches 20 times the risk in the general population. Purpose. The main objective is the phenotypic characterization at a psychopathological level in a clinical sample of people with this syndrome, as well as the evaluation of the differences between the subjects of the sample based on the existence or not of psychotic symptoms at the level of their sociodemographic characteristics, the achievement of developmental milestones, pre and perinatal complications and the presence of other psychopathological alterations. To date, there are no studies in Spanish population with 22q11DS...
Background. The chromosomal region 22q11.2 is particularly vulnerable to aberrant rearrangements, generating deletions or duplications, and producing a set of developmental anomalies. The 22q11 deletion syndrome (22q11DS) occurs at a frequency of around 1 in every 2,000-4,000 live births, making it the most common known interstitial deletion in humans. Most individuals (85-95%) have de novo mutations, however 5-15% of them are inherited from an affected parent as an autosomal dominant form. This syndrome is one of the most common genetic causes of intellectual disability and there are many studies that relate the syndrome to a wide range of psychopathological phenotypes, thus it is associated with attention deficit hyperactivity disorder (ADHD), anxiety disorders and obsessive-compulsive disorder (OCD) among others. It has also become one of the most known risk factors for developing psychotic symptoms and it has been estimated that the risk of developing a schizophrenia for an individual with 22q11DS approaches 20 times the risk in the general population. Purpose. The main objective is the phenotypic characterization at a psychopathological level in a clinical sample of people with this syndrome, as well as the evaluation of the differences between the subjects of the sample based on the existence or not of psychotic symptoms at the level of their sociodemographic characteristics, the achievement of developmental milestones, pre and perinatal complications and the presence of other psychopathological alterations. To date, there are no studies in Spanish population with 22q11DS...
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Tesis inédita de la Universidad Complutense de Madrid, Facultad de Medicina, Departamento de Psiquiatría y Psicología Médica, leída el 13/07/2017