| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 2786704 | International Journal of Developmental Neuroscience | 2011 | 6 Pages |
Fragile X syndrome (FraX) is the most common form of inherited mental deficit and is caused by mutations of the Fragile X Mental Retardation 1 (FMR1) gene on the X chromosome. While males and females with the full FMR1 mutation are affected differently because the disorder is X-linked, both suffer from varying degrees of cognitive impairment, attention deficits and social anxiety. The insula is a sensory integrative region that has been increasingly suggested as a critical area involved in anxiety manifestation.The current study was designed to examine possible changes in insular volume in FraX compared to age- and gender-matched typically developing healthy controls (HC) as well as age-, gender-, and intelligence-matched developmentally delayed controls (DD). An established native-space, manual morphometry method was utilized to quantify total and regional insular volumes using structural magnetic resonance imaging.Total, anterior and posterior insular volumes were found to be reduced in FraX compared to both HC and DD. The current data add to a growing literature concerning brain abnormalities in FraX and suggests that significant volume reduction of the insula is a component of the FraX neuroanatomical phenotype. This finding also provides an intriguing potential neural correlate for hyperarousal and gaze aversion, which are prominent behavioral symptoms of FraX.
Research highlights► Both males and females with the full FMR1 mutation suffer from varying degrees of cognitive impairment, attention deficits and social anxiety. ► The insula is a sensory integrative region that has been increasingly suggested as a critical area involved in anxiety manifestation. ► Total, anterior and posterior insular volumes were all found to be reduced in FraX compared DD and HC. ► Current data provide a distinct neural correlate of anxiety observed in FraX individuals involving the insula, and changes in insular volumes may contribute to the aversive eye gaze behavior that is so prominent in the disorder.
