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Treatment

Currently there is no cure for Fragile X syndrome, but there are therapies that may improve quality of life and help a person reach their full potential. As there are sometimes associated medical problems including recurrent ear infections, joint problems, vision problems (including crossed eyes) and occasionally heart problems, medical interventions may be required. The best outcomes involve a multi-disciplinary approach to management which may include occupational, physical, psychological, special education and speech therapies. Early diagnosis is important as the sooner these interventions are started the better for the child. Genetic counselling in a genetic clinic is also recommended as there may be other family members at risk, including a future pregnancy of a couple who already have an affected child with Fragile X syndrome. There are reproductive options available for couples who already have a child affected with Fragile X syndrome, to avoid having another child born with Fragile X syndrome. These options include prenatal diagnosis (testing the pregnancy for Fragile X syndrome with a biopsy of the placenta or sampling of the amniotic fluid) or pre-implantation genetic diagnosis which involves IVF (in-vitro fertilization). These options are best discussed in a genetic clinic.
 

Last Review Date: March 15, 2016