Brain and behavior in 48, XXYY syndrome
Alli P Hanley1, Jonathan D Blumenthal1, Nancy Raitano Lee2
1Child Psychiatry Branch, National Institute of Mental Health, NIH, DHHS, USA.
Neuroimage. Clinical
|June 25, 2015
Summary
Males with 48, XXYY syndrome exhibit distinct brain structure differences, including altered gray and white matter volumes and increased incidence of specific brain abnormalities compared to typically developing males.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- 48, XXYY syndrome presents with variable developmental, cognitive, behavioral, and physical abnormalities.
- Understanding the neuroanatomical basis of XXYY syndrome is crucial for elucidating brain-behavior relationships.
Purpose of the Study:
- To investigate the neuroanatomical phenotype in males with 48, XXYY syndrome using MRI.
- To compare brain structure between males with XXYY syndrome and typically developing XY males.
Main Methods:
- Quantitative and qualitative analyses of MRI brain scans.
- Comparison of 25 males with XXYY syndrome against 92 age- and SES-matched typically developing XY males.
Main Results:
- XXYY males showed smaller frontal and temporal gray/white matter volumes.
- Parietal lobe gray/white matter and lateral ventricular volumes were larger in XXYY males.
- Increased incidence of colpocephaly, white matter lesions, and thin posterior corpus callosum observed in XXYY group.
Conclusions:
- The study identifies specific neuroanatomical differences associated with 48, XXYY syndrome.
- Findings highlight the role of sex chromosomes in brain development and suggest directions for future research.
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