Fragile X syndrome identified for affecting key brain systems

Researchers at the Stanford University School of Medicine have identified several large-scale neural systems in the brain that appear to be impaired by fragile X syndrome, the most common form of inherited intellectual disability. “Given that the salience network is involved in regulating physiological responses to emotional stimulation, this finding could explain why individuals with fragile X syndrome often become extremely stressed when they encounter new situations”, said Scott Hall, PhD, an assistant professor of psychiatry and behavioral sciences at the School of Medicine and a member of the Child Health Research Institute at Lucile Packard Children's Hospital. Hall is the lead author of this study which is published in JAMA Psychiatry. “There are about 15 different networks we can assess with resting-state fMRI. Each network supports a specific cognitive, motor or sensory function like memory, language or vision”, said Michael Greicius, MD, assistant professor of neurology and neurological sciences, and senior author of the study. “They are called resting-state networks because even at rest, when not actively carrying out their specific functions, they still exhibit a low level of activity. This allows us to identify the networks and gauge the strength of connections between different brain regions within them”. “Being able to measure therapy-related changes by imaging resting state networks could really help researchers ascertain the effectiveness of the therapies”, Hall said. “In the future, it may be possible to use this technique to help define subgroups of autistic children, which could aid in developing successful therapies for people with autism”.