Criterios de diagnóstico genético en casos de retraso mental y del desarrollo de origen idiopático / Genetic diagnostic criteria in cases of mental retardation and development of idiopathic origin

Diversos estudios estiman que el retraso mental afecta a un 1-3 % de la población, y en cerca de un 50 % de los casos se desconoce la etiología. La incertidumbre sobre la etiología, y la recurrencia, hacen que la prevención del retraso mental presente graves repercusiones de tipo terapéutico, social e incluso económicas. La clave principal es lograr un diagnóstico preciso, probando una hipótesis clínica mediante la realización de las pruebas genéticas adecuadas. Debido al creciente desarrollo de la tecnología en el campo de la genética, y a la disponibilidad de nuevas pruebas, en este artículo se revisan e integran los criterios establecidos en las guías consensuadas de diferentes sociedades científicas (pediátricas, neurológicas y genéticas) respecto a su utilización en el diagnóstico del retraso mental y del retraso del desarrollo (AU)

Different studies show that mental retardation affects 1-3 % of the population, and in about 50 % of the cases the aetiology is unknown. The uncertainty on the aetiology, and recurrence, means that prevention of mental retardation can have serious, therapeutic, social, and even economic repercussions. The key is to obtain an accurate diagnosis, proving a clinical hypothesis by the accomplishment of the most suitable genetic tests. Due to the increasing development of the technology in the field of the genetics, and the availability of new tests, this article reviews the criteria established in the practice guidelines from different scientific societies (paediatric, neurological and genetic) with respect to their use in diagnosis and integrates them from the point of view of their use in mental retardation and developmental delay (AU)

[Genetic diagnostic criteria in cases of mental retardation and development of idiopathic origin]. / Criterios de diagnóstico genético en casos de retraso mental y del desarrollo de origen idiopático.

Different studies show that mental retardation affects 1-3% of the population, and in about 50 % of the cases the aetiology is unknown. The uncertainty on the aetiology, and recurrence, means that prevention of mental retardation can have serious, therapeutic, social, and even economic repercussions. The key is to obtain an accurate diagnosis, proving a clinical hypothesis by the accomplishment of the most suitable genetic tests. Due to the increasing development of the technology in the field of the genetics, and the availability of new tests, this article reviews the criteria established in the practice guidelines from different scientific societies (paediatric, neurological and genetic) with respect to their use in diagnosis and integrates them from the point of view of their use in mental retardation and developmental delay.