MRI Imaging Reveals Unique Characteristics in the Brains of Fragile X Syndrome Patients

According to a story from Medical Xpress, a recent study is revealing pronounced differences in the brains of people with fragile x syndrome when compared to the brains of people without the disorder. Because the study scanned the brains of babies, this information could lead to earlier diagnosis of this rare syndrome before the first symptoms have begun to appear.

Fragile x syndrome (FXS) that causes mild to moderate intellectual disability. Boys are more affected than girls. The disease carries distinctive physical features, but these are often not particularly prominent until the patient hits puberty. These features include a long face, low muscle tone, hyperflexible fingers, flat feet, prominent ears, and enlarged testicles. Patients may display behaviors similar to autism, as well as hyperactivity; some patients also experience seizures. Many patients experience social anxiety and ADHD. While there is no cure for fragile x syndrome, special education and therapies can be effective when introduced early in life. Some medicines are also sufficient for treating behavioral symptoms and seizures. To learn more about fragile x syndrome, click here.

The imaging study used MRIs to investigate possible differences between the brains of FXS patients when compared to typical brains. The study specifically looked at the brains of newborns, and discovered that FXS patients did not have the same extent of white matter in their brains that unaffected babies had. This data could help in the development of possible treatments for the syndrome; at this juncture, there are no available treatments that can reverse the symptoms of FXS. Part of the problem is that it has been challenging to determine relevant biomarkers that can indicate a response to treatment. This difference in white matter could help resolve this issue and be a way to measure the effectiveness of treatment.

The differences in white matter became observable as early as six months old. This is far earlier in life than when FXS is often diagnosed. In most cases, patients do not receive a diagnosis until they are at least three years old. Hopefully, this new information about this syndrome will lead to the first major breakthroughs in developing an effective treatment.


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