GENETIC ENGINEERING: GENETIC DISEASES

The Fragile X Syndrome: Treatment

A DNA based test to diagnose Fragile X was developed in 1992. This test is quite accurate, and it can detect both carriers and fully-affected individuals. The blood test that can be ordered by any physician; the blood sample is then sent to one of the labs that
offers the test. It usually takes several weeks to get the results.

Because the symptoms of Fragile X can be quite subtle, especially in young children, and because it is so frequent in the general population, many medical specialists recommend that testing for Fragile X be considered for any individual with otherwise unexplained developmental delay or mental retardation.

Most major medical centers in the United States now offer the DNA test for Fragile X. This test costs about $200 but may be covered by health insurance. For more information about testing, talk to your doctor or genetic counsellor.

April 2005: Standard Reference Material from the National Institute of Standards and Technology (NIST) was released to help clinical genetics labs improve the accuracy of fragile X diagnostic tests.

There is currently no cure for Fragile X, although appropriate education and medications can help maximize the potential of each child. However, most boys and many girls remain significantly affected throughout their lives. The cost to society for treatment, special education, and lost income is staggering. The need for research aimed at treatment is urgent.

Standard treatment includes special education, speech, occupational, and sensory integration training; and behavior modification programs. Surgical correction of heart defects is sometimes necessary. Genetic counseling will benefit families of affected persons. Other treatment is symptomatic and supportive.

Folic acid has been found to improve hyperactivity and attention deficits in some pre-adolescent males with fragile X syndrome.  FRAXA-funded research has already achieved significant breakthroughs in understanding Fragile X. We now know that the FMR protein's normal role is to help shape the connections between neurons (brain cells) that underlie learning and memory, and we are beginning to understand how the lack of the protein causes Fragile X syndrome. Because absence of the FMR protein seems to delay the development of neurons, rather than damage or destroy them, it appears likely that treatments now being investigated can potentially benefit all individuals with Fragile X, regardless of age.