What is it?

Què és la SXF?Qué es el SXF?What is it?

What is it?

Fragile X Syndrome (FXS) is a genetic disorder of familiar transmission, linked to the X Chromosome. It can cause difficulties such as learning or intellectual problems.

It affects 1 in 4000 males and 1 in 6000 females, and 1 in 250 women is a carrier with no clinical symptoms.

FXS is nowadays considered the most frequent cause of inherited intellectual disability.

 

Causes

Men are normally affected to a greater extent than women because women have two X chromosomes and the healthy one somewhat compensates for the missing protein.

Diagnosis

Diagnosis is preformed with a blood test using molecular techniques. The tests performed before 1992 cannot be considered completely reliable. The importance of a primary diagnosis is double: on one hand it enables better medical, psychological, and educational intervention. The currently available molecular tests provide in depth analysis of the FMR-1 gene, the carrier status and the extent of the mutation can be detected both pre and postnatally.

Treatment

There is no current treatment specific for Fragile X Syndrome. However, clinical experiences, and several studies, have directed us towards specifically designed therapeutic intervention, especially during childhood.

Multidisciplinary treatment is most advisable, and must respond to a personalized strategy. There are many therapeutic approaches: speech therapy, integrative sensorial therapy, medical, psychological or pedagogical therapies… These therapies improve the learning abilities.

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