Affiliation:
1. Center for Interdisciplinary Brain Sciences Research, Department of Psychiatry and Behavioral Sciences Stanford University Stanford California USA
2. Department of Psychology University of Minnesota Minneapolis Minnesota USA
3. Department of Pediatrics Thomas Jefferson University Philadelphia Pennsylvania USA
4. Nemours Children's Hospital Wilmington Delaware USA
5. Department of Pediatrics Stanford University School of Medicine Stanford California USA
6. Department of Radiology Stanford University School of Medicine Stanford California USA
Abstract
AbstractTurner syndrome (TS) is a common sex chromosome aneuploidy in females associated with various physical, cognitive, and socio‐emotional phenotypes. However, few studies have examined TS‐associated alterations in the development of cortical gray matter volume and the two components that comprise this measure—surface area and thickness. Moreover, the longitudinal direct (i.e., genetic) and indirect (i.e., hormonal) effects of X‐monosomy on the brain are unclear. Brain structure was assessed in 61 girls with TS (11.3 ± 2.8 years) and 55 typically developing girls (10.8 ± 2.3 years) for up to 4 timepoints. Surface‐based analyses of cortical gray matter volume, thickness, and surface area were conducted to examine the direct effects of X‐monosomy present before pubertal onset and indirect hormonal effects of estrogen deficiency/X‐monosomy emerging after pubertal onset. Longitudinal analyses revealed that, whereas typically developing girls exhibited normative declines in gray matter structure during adolescence, this pattern was reduced or inverted in TS. Further, girls with TS demonstrated smaller total surface area and larger average cortical thickness overall. Regionally, the TS group exhibited decreased volume and surface area in the pericalcarine, postcentral, and parietal regions relative to typically developing girls, as well as larger volume in the caudate, amygdala, and temporal lobe regions and increased thickness in parietal and temporal regions. Surface area alterations were predominant by age 8, while maturational differences in thickness emerged by age 10 or later. Taken together, these results suggest the involvement of both direct and indirect effects of X‐chromosome haploinsufficiency on brain development in TS.
Funder
Eunice Kennedy Shriver National Institute of Child Health and Human Development
National Institute of Mental Health
Subject
Neurology (clinical),Neurology,Radiology, Nuclear Medicine and imaging,Radiological and Ultrasound Technology,Anatomy
Cited by
2 articles.
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