Profilo comportamentale nella Sindrome X-Fragile
Christina Rizzi, Luigina Montresor
The article describes the results of a project sponsored by the Italian Fragile-X Association. The aim of the project was to study in a systematic and standardised way the behavioural profile of a group of male patients, in order to explore development trajectories from infancy to adulthood. 62 males, representative of various age groups, participated in the project. All the subjects exhibit the full mutation, due to a fragile site on the long arm of the X chromosome, which is described with the presence of CGG triplet repeats (> 200 ) in the Xq27.3 region, which causes the inactivation of the FMR1 gene. Currently there is no medication for Fragile-X, emphasis is on rehabilitation. In-depth knowledge of the behavioural aspects of the syndrome allows the operator to assess the strengths and weaknesses of their patient, and then choose treatment programmes that take into account the specificity of the behavioural phenotype of the Fragile-X Syndrome.