TY - JOUR
T1 - Resting-state functional connectivity in adults with 47,XXX
T2 - a 7 Tesla MRI study
AU - Serrarens, Chaira
AU - Kashyap, Sriranga
AU - Riveiro-Lago, Laura
AU - Otter, Maarten
AU - Campforts, Bea C M
AU - Stumpel, Constance T R M
AU - Jansma, Henk
AU - Linden, David E J
AU - van Amelsvoort, Thérèse A M J
AU - Vingerhoets, Claudia
N1 - © The Author(s) 2022. Published by Oxford University Press.
PY - 2023/4/25
Y1 - 2023/4/25
N2 - Triple X syndrome is a sex chromosomal aneuploidy characterized by the presence of a supernumerary X chromosome, resulting in a karyotype of 47,XXX in affected females. It has been associated with a variable cognitive, behavioral, and psychiatric phenotype, but little is known about its effects on brain function. We therefore conducted 7 T resting-state functional magnetic resonance imaging and compared data of 19 adult individuals with 47,XXX and 21 age-matched healthy control women using independent component analysis and dual regression. Additionally, we examined potential relationships between social cognition and social functioning scores, and IQ, and mean functional connectivity values. The 47,XXX group showed significantly increased functional connectivity of the fronto-parietal resting-state network with the right postcentral gyrus. Resting-state functional connectivity (rsFC) variability was not associated with IQ and social cognition and social functioning deficits in the participants with 47,XXX. We thus observed an effect of a supernumerary X chromosome in adult women on fronto-parietal rsFC. These findings provide additional insight into the role of the X chromosome on functional connectivity of the brain. Further research is needed to understand the clinical implications of altered rsFC in 47,XXX.
AB - Triple X syndrome is a sex chromosomal aneuploidy characterized by the presence of a supernumerary X chromosome, resulting in a karyotype of 47,XXX in affected females. It has been associated with a variable cognitive, behavioral, and psychiatric phenotype, but little is known about its effects on brain function. We therefore conducted 7 T resting-state functional magnetic resonance imaging and compared data of 19 adult individuals with 47,XXX and 21 age-matched healthy control women using independent component analysis and dual regression. Additionally, we examined potential relationships between social cognition and social functioning scores, and IQ, and mean functional connectivity values. The 47,XXX group showed significantly increased functional connectivity of the fronto-parietal resting-state network with the right postcentral gyrus. Resting-state functional connectivity (rsFC) variability was not associated with IQ and social cognition and social functioning deficits in the participants with 47,XXX. We thus observed an effect of a supernumerary X chromosome in adult women on fronto-parietal rsFC. These findings provide additional insight into the role of the X chromosome on functional connectivity of the brain. Further research is needed to understand the clinical implications of altered rsFC in 47,XXX.
U2 - 10.1093/cercor/bhac410
DO - 10.1093/cercor/bhac410
M3 - Article
C2 - 36255323
SN - 1047-3211
VL - 33
SP - 5210
EP - 5217
JO - Cerebral Cortex
JF - Cerebral Cortex
IS - 9
ER -