Publication: Caracterización del rendimiento neuropsicológico en personas con síndrome de deleción 22Q11.2
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2019-11-15
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Universidad Complutense de Madrid
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Abstract
El síndrome de deleción 22q11.2 (SD22q11.2), también conocido como síndrome velo-cardio-facial o síndrome de DiGeorge, es un trastorno de causa genética con variabilidad fenotípica amplia y presencia frecuente de sintomatología neuropsiquiátrica (1,2). La prevalencia estimada de este síndrome en países desarrollados es de 1:4.000-6.000 recién nacidos vivos (3,4). Las personas con SD22q11.2 presentan alteraciones del neurodesarrollo que ocasionan un aumento del riesgo de psicopatología, especialmente a partir de la adolescencia (5). A nivel neuropsicológico, y a pesar de la gran variabilidad, suelen presentar problemas de aprendizaje en edad escolar; especialmente en las áreas de matemáticas, lectura comprensiva y de razonamiento abstracto (resolución de problemas). Su cociente intelectual (CI) se sitúa con frecuencia por debajo de la media para su grupo de edad (CI límite, en torno a 70), con una prevalencia de discapacidad intelectual en el 25-40% de los pacientes (6). Varios estudios internacionales han encontrado una posible relación entre un bajo rendimiento en pruebas neuropsicológicas con un mayor riesgo de desarrollar psicosis (7–9)...
The 22q11.2 deletion syndrome (22q11.2DS), also known as velo-cardio-facial syndrome or DiGeorge syndrome, is a genetic disorder with broad phenotypic variability and frequent presence of neuropsychiatric symptoms (1,2). The estimated prevalence of this syndrome, in developed countries, is approximately 1:4.000-6.000 live births (3,4). People with 22q11.2DS present alterations in neurodevelopment that cause an increased risk of psychopathology, especially after adolescence (5).On a neuropsychological level and in spite of the great variability, they tend to present learning problems at school age; especially in the areas of mathematics, reading comprehension and abstract reasoning (problem solving). Their intelligence quotient (IQ) is often below the average for their age group (borderline IQ around 70), with a prevalence of intellectual disability in 25-40% of patients (6). Several international studies have found a possible relationship between poor performance in neuropsychological tests and an increased risk of developing psychosis (7–9)...
The 22q11.2 deletion syndrome (22q11.2DS), also known as velo-cardio-facial syndrome or DiGeorge syndrome, is a genetic disorder with broad phenotypic variability and frequent presence of neuropsychiatric symptoms (1,2). The estimated prevalence of this syndrome, in developed countries, is approximately 1:4.000-6.000 live births (3,4). People with 22q11.2DS present alterations in neurodevelopment that cause an increased risk of psychopathology, especially after adolescence (5).On a neuropsychological level and in spite of the great variability, they tend to present learning problems at school age; especially in the areas of mathematics, reading comprehension and abstract reasoning (problem solving). Their intelligence quotient (IQ) is often below the average for their age group (borderline IQ around 70), with a prevalence of intellectual disability in 25-40% of patients (6). Several international studies have found a possible relationship between poor performance in neuropsychological tests and an increased risk of developing psychosis (7–9)...
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Tesis inédita de la Universidad Complutense de Madrid, Facultad de Medicina, Departamento de Medicina Legal, Psiquiatría y Patología, leída el 28-10-2019