Adolescent brain development in girls with Turner syndrome.
Adolescent brain development in girls with Turner syndrome.
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DOI：
10.1002/hbm.26327
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发表时间：
2023-07
影响因子：
4.8
通讯作者：
Reiss, Allan L.
中科院分区：
文献类型：
--
作者：
Wun, Vanessa Lozano;Foland-Ross, Lara C.;Jo, Booil;Green, Tamar;Hong, David;Ross, Judith L.;Reiss, Allan L.
特纳综合征（TS）是女性常见的性染色体非整倍体，与各种身体、认知和社会情感表型相关。然而，很少有研究研究与 TS 相关的皮质灰质体积发育以及构成该指标的两个组成部分（表面积和厚度）的变化。此外，X-单体对大脑的纵向直接（即遗传）和间接（即激素）影响尚不清楚。对 61 名 TS 女孩（11.3±2.8 岁）和 55 名正常发育女孩（10.8±2.3 岁）的大脑结构进行了长达 4 个时间点的评估。对皮质灰质体积、厚度和表面积进行基于表面的分析，以检查青春期开始前存在的 X-单体的直接影响以及青春期开始后出现的雌激素缺乏/X-单体的间接激素影响。纵向分析显示，虽然典型发育中的女孩在青春期表现出灰质结构的正常下降，但这种模式在 TS 中减少或逆转。此外，患有 TS 的女孩表现出较小的总表面积和较大的平均皮质厚度。从区域上看，与发育正常的女孩相比，TS 组的踝周、中央后和顶叶区域的体积和表面积减少，尾状核、杏仁核和颞叶区域的体积更大，顶叶和颞叶区域的厚度增加。表面积的变化在 8 岁时占主导地位，而厚度的成熟差异在 10 岁时或以后出现。综上所述，这些结果表明 X 染色体单倍体不足对 TS 大脑发育有直接和间接影响。采用加速纵向设计对患有特纳综合征（TS；45，XO）和典型发育（TD）的 4-17 岁女孩进行皮质灰质体积、厚度和表面积的表面分析。统计分析显示，尽管 TD 女孩在整个青春期的灰质结构均表现出正常下降，但在患有 TS 的女孩中，这种模式有所减少或逆转。研究结果表明 X 染色体对大脑发育有直接和间接的影响。
Turner 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. Surface‐based analyses of cortical gray matter volume, thickness, and surface area were conducted using an accelerated longitudinal design in girls ages 4–17 years with Turner syndrome (TS; 45, XO) and typical development (TD). Statistical analyses revealed that whereas TD girls exhibited normative declines in gray matter structure throughout adolescence, this pattern was reduced or inverted in girls with TS. Findings suggest the involvement of both direct and indirect effects of the X‐chromosome on brain development.
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DOI：
10.1002/ajmg.b.32256
发表时间：
2014-09
影响因子：
2.8
作者：
Green, Tamar;Chromik, Lindsay C.;Mazaika, Paul K.;Fierro, Kyle;Raman, Mira M.;Lazzeroni, Laura C.;Hong, David S.;Reiss, Allan L.
通讯作者：
Reiss, Allan L.
影响因子：
64.8
作者：
通讯作者：
--
DOI：
10.1523/jneurosci.4682-09.2010
发表时间：
2010-02-10
期刊：
The Journal of neuroscience : the official journal of the Society for Neuroscience
影响因子：
--
作者：
Hill J;Dierker D;Neil J;Inder T;Knutsen A;Harwell J;Coalson T;Van Essen D
通讯作者：
Van Essen D
影响因子：
--
作者：
Hong, David;Kent, Jamie Scaletta;Kesler, Shelli
通讯作者：
Kesler, Shelli
影响因子：
5.7
作者：
Dale, AM;Fischl, B;Sereno, MI
通讯作者：
Sereno, MI