Insular volume reduction in fragile X syndrome

Area of Science:

• Neuroscience
• Genetics
• Developmental Disorders

Background:

• Fragile X syndrome (FraX), the most common inherited intellectual disability, stems from FMR1 gene mutations.
• FraX affects males and females differently, but both experience cognitive impairment, attention deficits, and social anxiety.
• The insula, a key sensory integration area, is implicated in anxiety.

Purpose of the Study:

• To investigate insular volume changes in individuals with FraX.
• To compare insular volumes in FraX patients against typically developing healthy controls (HC) and developmentally delayed (DD) controls.

Main Methods:

• Utilized structural magnetic resonance imaging (MRI).
• Employed a native-space, manual morphometry method to quantify insular volumes.
• Compared total and regional insular volumes between FraX, HC, and DD groups.

Main Results:

• Individuals with FraX exhibited reduced total, anterior, and posterior insular volumes compared to both HC and DD groups.
• These findings indicate a significant reduction in insular volume as part of the FraX neuroanatomical profile.

Conclusions:

• Reduced insular volume is a key neuroanatomical feature of Fragile X syndrome.
• This brain abnormality may correlate with prominent FraX symptoms like hyperarousal and gaze aversion.