Abstract

Fragile X syndrome, which affects about 1:4000 males and 1:8000 females, represents the most common inherited identifiable cause of mental retardation. It is associated with a mutation in long arm of X chromosome. As regards the cognitive aspects it is characterized by: mental retardation, decreasing of IQ from infancy to the adult age, a large intrasyndromic variability, a peculiar cognitive profile with specific strengths and weaknesses. The aim of this paper is to consider critically the main characteristics of the cognitive profile of the individuals with fragile X syndrome.