Fragile X syndrome – caused by a gene mutation on the X chromosome – doesn’t get a lot of press, but it’s the most common form of inherited intellectual disability.
Approximately 1 in 4,000 males and 1 in 8,000 females have it. According to my quick back-of-the-envelope calculation, based on 2010 data from the U.S. Census Bureau, that works out to roughly 56,000 afflicted people in the U.S.
The findings could aid in developing different kinds of treatment for fragile X
Researchers have known that certain regions of the brain are structurally altered in people with the condition, but now some researchers at Stanford and Lucile Packard Children’s Hospital have identified several large-scale neural networks that appear to be impaired by the condition. The findings could help in devising treatments for the disorder.
The researchers conducted a magnetic resonance imaging study of some children and young adults with fragile X syndrome, which, combined with some recently developed methods of quantifying brain activity, revealed the impairments. The neural network that showed the greatest impairment was the salience network, which is thought to be involved in evaluating emotional stimuli and generating appropriate responses.
According to researcher Scott Hall, PhD, an assistant professor of psychiatry and behavioral sciences here and a member of the Child Health Research Institute at Packard Children’s who worked on the study:
The findings could aid in developing different kinds of treatment for fragile X, both by helping researchers understand where the processing problems or deficits lie in the brain and also in potentially giving them a way to assess the effectiveness of a particular treatment, either by comparing brain scans from before and after a behavioral therapy session or observing scans during a course of medication.
The outward symptoms of fragile X syndrome are similar to those of people with autism – pronounced social awkwardness, language impairment and repetitive actions. Although autism is diagnosed solely on behavioral criteria, the researchers are hopeful the technique they employed might also be useful in diagnosing subgroups of children with autism, which could aid in developing new therapies.
You can read a more detailed account of the study, which was published online today in JAMA Psychiatry, and its possible ramifications in our press release.
Previously: How better understanding Williams syndrome could advance autism research and Two robust fragile X syndrome findings intersect