White matter organization abnormalities in adults with 47,XXX: A 7 Tesla MRI study

• Published in: Psychiatry research. Neuroimaging Vol. 345; p. 111915
• Main Authors: Serrarens, Chaira, Kashyap, Sriranga, Otter, Maarten, Campforts, Bea C.M., Stumpel, Constance T.R.M., Linden, David E.J., van Amelsvoort, Thérèse A.M.J., Vingerhoets, Claudia
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.12.2024
• Subjects: 47,XXX; 7 T; Adult; Brain - diagnostic imaging; Brain - pathology; Chromosomes, Human, X - genetics; Corpus Callosum - diagnostic imaging; Corpus Callosum - pathology; Diffusion tensor imaging; Diffusion Tensor Imaging - methods; Female; Humans; Magnetic Resonance Imaging - methods; Sex Chromosome Aberrations; Sex Chromosome Disorders - diagnostic imaging; Sex Chromosome Disorders - genetics; Sex Chromosome Disorders - pathology; Sex Chromosome Disorders of Sex Development; Trisomy - genetics; White Matter - diagnostic imaging; White Matter - pathology; White matter organization; Young Adult; 7 T; White matter organization; 47,XXX; Diffusion tensor imaging
• ISSN: 0925-4927; 1872-7506; 1872-7506
• DOI: 10.1016/j.pscychresns.2024.111915

•We investigated white matter organization characteristics including FA, MD, AD, and RD using 7 T DTI data.•We found lower AD in the body of the corpus callosum and the superior longitudinal fasciculus in adult individuals with 47,XXX.•We found no associations between white matter organization variability and IQ, social cognition, and social functioning deficits in 47,XXX. 47,XXX (Triple X syndrome) is a sex chromosome aneuploidy characterized by the presence of a supernumerary X chromosome in affected females, and has been associated with a variable cognitive, behavioral, and psychiatric phenotype. Alterations in brain gray matter structure and function have been reported, but less is known about white matter (WM) organization in 47,XXX. Therefore, we conducted 7 T diffusion tensor imaging and characterized fractional anisotropy, mean diffusivity, axial diffusivity, and radial diffusivity of 22 adult women with 47,XXX and 22 age-matched typically developing females using tract-based spatial statistics. Relationships between phenotypic traits and WM organization characteristics in 47,XXX were also investigated. Adults with 47,XXX showed lower axial diffusivity in the body of the corpus callosum and the right superior longitudinal fasciculus. WM organization variability was not associated with IQ and social cognition and social functioning deficits in 47,XXX. Our findings indicate an effect of a supernumerary X chromosome in adult women on axonal integrity of the body of the corpus callosum and the right superior longitudinal fasciculus. These findings provide additional insight into the role of the X chromosome on WM organization. Future research is warranted to explore the clinical significant impact of altered WM organization in 47,XXX.