Imaging helps ID brain areas affected by Fragile X syndrome, aids early intervention
A team of U.S. researchers utilized brain imaging to find problems in white matter connectivity in infants with the genetic neurodevelopment disorder Fragile X syndrome (FXS), pointing to the areas as possible targets of intervention.
“We identified significant differences in the development of 12 of 19 white matter fiber pathways among infants with FXS,” authors wrote in the study published online May 3 in JAMA Psychiatry.
Children with FXS exhibit intellectual and behavior disabilities, which led experts to study the severity of white matter disruption in infants—and if these abnormalities correlated to global connectivity and functional specialization in the brain.
Researchers utilized diffusion tensor imaging (DTI) to scan 27 infant brains with FXS and 73 infants in a control group.
A total of 19, 3D white matter fiber tracts in the brain were generated from the scan data which was analyzed for the degree of fiber density—fractional anisotropy—at six, 12 and 24 months.
Results found “significant” differences in the development of 12 of 19 fiber tracts between the 27 infants with FXS and the control group.
These affected tracts were found to correlate to pathways in the brain that support the execution and control of motor function. Additionally, previous studies in older patients with FXS in white matter areas examined in this study have been associated with anxiety, language and social-emotional functioning.
This may indicate the loss of the fragile X mental retardation protein (FMRP) is expressed across brain regions over time, and revealed through sensory and motor cells, authors wrote.
“To our knowledge, these findings are the first to substantiate in human infants findings from nonhuman animal model studies concerning the essential role of FMRP protein in the early development of white matter connectivity,” wrote corresponding author, Meghan R. Swanson, PhD, at University of North Carolina at Chapel Hill’s Carolina Institute for Developmental Disabilities and colleagues.
Importantly, the group recognized the results of the study “should be considered in the light of several limitations.”
These included the inability to pinpoint precise attributes to observed behavioral values using DTI, and a need for a larger number of participants and repeated measures to more accurately determine future development.
While authors promoted caution, they also concluded the results “highlight white matter as a potential target for early intervention,” Swanson et al. wrote.
Matt joined Chicago’s TriMed team in 2018 covering all areas of health imaging after two years reporting on the hospital field. He holds a bachelor’s in English from UIC, and enjoys a good cup of coffee and an interesting documentary.