Magnetic resonance imaging (MRI) has unveiled new details on fragile X syndrome. The white matter of the children who suffer from it is less developed than the average. The next step will be to study white matter from different angles, to focus on the brain circuits involved in communication between neurons.

The study by UNC School of Medicine researchers showed that brain differences predate the diagnosis of the disease. Usually the fragile X syndrome is detected around 3 years, if not later. However, brain damage is much earlier. With the right analysis, therefore, it would be possible to diagnose the disease much earlier. It would also avoid the many wrong diagnoses related to the disease.

Unfortunately, in this case early diagnosis is not synonymous with early treatment. For the time being there are no treatments for fragile X syndrome. However, the discovery could facilitate research. In fact, the differences detected in the white matter could become the basis for new studies.

The study involved 27 children with fragile X syndrome and 73 healthy children. Researchers collected images made with magnetic resonance imaging. In particular, they focused on 19 bundles of myelinated axons, ie the longest arms of neurons. These connect the various parts of the brain to each other, allowing rapid communication between neurons. A good connection between neurons is essential for the proper functioning of the brain, especially in the age of development.

Children with the syndrome showed abnormalities in the development of beams 12 and 19 from 6 months of age. These newborns had much less developed fibers in various parts of the brain, although the symptoms were not yet evident.

Magnetic resonance images confirmed previous observations made on mice. In particular, it emerged as the expression of the X fragile impacts on development from the beginning. A promising revelation, which could facilitate the discovery of new early treatments.

Source: med.unc.edu