TY - JOUR
T1 - Intracortical myelin across laminae in adult individuals with 47,XXX
T2 - a 7 Tesla MRI study
AU - Serrarens, Chaira
AU - Ruiz-Fernandez, Julia
AU - Otter, Maarten
AU - Campforts, Bea C. M.
AU - Stumpel, Constance T. R. M.
AU - Linden, David E. J.
AU - van Amelsvoort, Therese A. M. J.
AU - Kashyap, Sriranga
AU - Vingerhoets, Claudia
PY - 2024/8/23
Y1 - 2024/8/23
N2 - 47,XXX (Triple X syndrome) is a sex chromosome aneuploidy characterized by the presence of a supernumerary X chromosome in affected females and is associated with a variable cognitive, behavioral, and psychiatric phenotype. The effect of a supernumerary X chromosome in affected females on intracortical microstructure is currently unknown. Therefore, we conducted 7 Tesla structural MRI and compared T1 (ms), as a proxy for intracortical myelin (ICM), across laminae of 21 adult women with 47,XXX and 22 age-matched typically developing females using laminar analyses. Relationships between phenotypic traits and T1 values in 47,XXX were also investigated. Adults with 47,XXX showed higher bilateral T1 across supragranular laminae in the banks of the superior temporal sulcus, and in the right inferior temporal gyrus, suggesting decreases of ICM primarily within the temporal cortex in 47,XXX. Higher social functioning in 47,XXX was related to larger inferior temporal gyrus ICM content. Our findings indicate an effect of a supernumerary X chromosome in adult-aged women on ICM across supragranular laminae within the temporal cortex. These findings provide insight into the role of X chromosome dosage on ICM across laminae. Future research is warranted to further explore the functional significance of altered ICM across laminae in 47,XXX.
AB - 47,XXX (Triple X syndrome) is a sex chromosome aneuploidy characterized by the presence of a supernumerary X chromosome in affected females and is associated with a variable cognitive, behavioral, and psychiatric phenotype. The effect of a supernumerary X chromosome in affected females on intracortical microstructure is currently unknown. Therefore, we conducted 7 Tesla structural MRI and compared T1 (ms), as a proxy for intracortical myelin (ICM), across laminae of 21 adult women with 47,XXX and 22 age-matched typically developing females using laminar analyses. Relationships between phenotypic traits and T1 values in 47,XXX were also investigated. Adults with 47,XXX showed higher bilateral T1 across supragranular laminae in the banks of the superior temporal sulcus, and in the right inferior temporal gyrus, suggesting decreases of ICM primarily within the temporal cortex in 47,XXX. Higher social functioning in 47,XXX was related to larger inferior temporal gyrus ICM content. Our findings indicate an effect of a supernumerary X chromosome in adult-aged women on ICM across supragranular laminae within the temporal cortex. These findings provide insight into the role of X chromosome dosage on ICM across laminae. Future research is warranted to further explore the functional significance of altered ICM across laminae in 47,XXX.
KW - 47,XXX
KW - 7 T
KW - intracortical myelin
KW - laminae
KW - T1
KW - SUPERIOR TEMPORAL SULCUS
KW - SEX-CHROMOSOME COMPLEMENT
KW - WHITE-MATTER
KW - ALLOMETRIC ANALYSIS
KW - BRAIN SIZE
KW - AUTISM
KW - ABNORMALITIES
KW - CHILDREN
KW - ANATOMY
KW - DYSFUNCTION
U2 - 10.1093/cercor/bhae343
DO - 10.1093/cercor/bhae343
M3 - Article
SN - 1047-3211
VL - 34
JO - Cerebral Cortex
JF - Cerebral Cortex
IS - 8
M1 - bhae343
ER -