[Genetic diagnostic criteria in cases of mental retardation and development of idiopathic origin].
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.
González Alvaredo
S
S
Laboratorio de Genética, Hospital Donostia, Donostia-San Sebastián, Guipúzcoa, Spain. sonia.gonzalezalvaredo@osakidetza.net
Sanz Rojo
R
R
García Santiago
J
J
Gaztañaga Expósito
R
R
Bengoa
A
A
Pérez-Yarza
E G
EG
D000465:Algorithms; D002648:Child; D002985:Clinical Protocols; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*