[Intellectual disability - a frequent reason for referral to medical genetics]

Mental retardation affects about 2-3% of the population and is often associated with comorbidities. So far, more than 450 different medical conditions are known with mental retardation as a sign and it is assumed that there are many more yet to be defined. The diagnosis of the underlying entity allows for a few specific optimization of cognitive function, but usually improves the treatment of comorbidities. Furthermore, the detection of the underlying genetic defect allows the specification of the risk of recurrence and enables prenatal diagnosis for future pregnancies of persons at risk in the family. Recent findings suggest that especially in diseases that are associated with defective synaptic signal transduction may be targeted by specific drugs for improvement of cognitive performance in the near future.