Brain morphology in children with 47, XYY syndrome: a voxel- and surface-based morphometric study

Area of Science:

• Neurobiology
• Genetics
• Developmental Neuroscience

Background:

• The neurocognitive and behavioral characteristics of individuals with 47,XYY are documented, but the impact of an extra Y chromosome on brain development is largely unknown.
• Understanding the neural phenotype of 47,XYY is crucial for elucidating Y-chromosome gene dosage effects, implicated in male-biased neuropsychiatric disorders like autism spectrum disorders.

Purpose of the Study:

• To investigate brain structure differences in young boys with 47,XYY compared to healthy controls.
• To identify the neural phenotype associated with a supernumerary Y-chromosome.

Main Methods:

• Combined voxel-based morphometry (VBM) and surface-based morphometry (SBM) were used.
• Brain structure was analyzed in 10 boys with 47,XYY and 10 age-matched controls.

Main Results:

• VBM revealed altered gray matter volume in the insular and parietal regions and white matter modifications in the frontal and superior parietal lobes in 47,XYY individuals.
• SBM confirmed these findings, showing abnormal surface area and cortical thinning in affected regions.
• Significant impact of the supernumerary Y-chromosome on brain development was observed.

Conclusions:

• The study demonstrates that an extra Y chromosome significantly affects brain development.
• These findings provide a neural basis for motor, speech, and behavior regulation difficulties in 47,XYY.
• The results may offer insights into sexual dimorphism in these brain regions and related functions.