目的 利用基于体素的形态测量学(VBM)方法,探测不同核型特纳综合征(TS)患儿脑灰质体积异常的差异.方法 19例染色体核型为45XO的单体型TS患儿和21例杂合核型的TS患儿以及20名正常儿童(对照组)进行了韦氏智力测量和3.0TMR扫描.单体型TS患儿组、杂合型TS患儿组和对照组的全脑高分辨率T1WI图像采用统计参数图(SPM)8软件包进行VBM分析,以全脑灰质总体积为协变量,比较3组之间全脑灰质体积的差别,采用功能神经图像分析软件AFNI软件包中的蒙特卡洛模拟方法(AlphaSim方法)进行簇水平上的多重比较校正.结果 单体型TS组患儿韦氏总智商值为(89±16)分,杂合型TS组为(91±13)分,而对照组韦氏总智商值为(109±15)分,3组智商差异具有统计学意义(F=10.75,P＜0.05).与对照组比较,单体型TS组及杂合型TS组均表现双侧楔叶、中央后回、扣带回灰质体积减小,差异有统计学意义(单体型TS组统计区体素数目分别4117、1392、1085,t值分别为5.75、5.33、5.02；杂合型TS组统计区体素数目为4501、2437、591,t值分别为5.40、5.11、4.95,P值均＜0.01,FWE校正)；两组TS患儿均在眶额回、海马旁回、小脑、岛叶,右侧颞极、纹状体,中脑背侧灰质体积增加,差异有统计学意义(单体型TS组统计区体素数目分别为1444、1188、791、725、695、431、386,t值分别为5.01、5.96、5.67、5.23、4.85、4.43、4.94；杂合型TS组统计区体素数目分别为6988、2709、2510、2380、1987、1709、1185,t值分别为6.50、7.06、7.26、5.27、5.71、6.02、4.56,P值均＜0.01,FWE校正).单体型TS组与杂合型TS组比较,杂合型TS组在左侧海马、纹状体较单体型TS组灰质体积增加(体素数目分别为1014、496,中心坐标t值分别为4.75和4.53,P值均＜0.01,FWE校正),在右侧缘上回灰质体积减少(体素数目为350,中心坐标t值为4.28,P＜0.01,FWE校正),差异有统计学意义.结论 单体型与杂合型TS患儿均存在顶枕叶的萎缩,说明单体型与杂合型TS导致的脑皮层发育障碍类似；而杂合型TS患儿双侧前额叶、颞叶与小脑的体积增加区域较单体型更为广泛,提示杂合型TS可能更多利用这些脑区进行代偿.
目的 利用基于體素的形態測量學(VBM)方法,探測不同覈型特納綜閤徵(TS)患兒腦灰質體積異常的差異.方法 19例染色體覈型為45XO的單體型TS患兒和21例雜閤覈型的TS患兒以及20名正常兒童(對照組)進行瞭韋氏智力測量和3.0TMR掃描.單體型TS患兒組、雜閤型TS患兒組和對照組的全腦高分辨率T1WI圖像採用統計參數圖(SPM)8軟件包進行VBM分析,以全腦灰質總體積為協變量,比較3組之間全腦灰質體積的差彆,採用功能神經圖像分析軟件AFNI軟件包中的矇特卡洛模擬方法(AlphaSim方法)進行簇水平上的多重比較校正.結果 單體型TS組患兒韋氏總智商值為(89±16)分,雜閤型TS組為(91±13)分,而對照組韋氏總智商值為(109±15)分,3組智商差異具有統計學意義(F=10.75,P＜0.05).與對照組比較,單體型TS組及雜閤型TS組均錶現雙側楔葉、中央後迴、釦帶迴灰質體積減小,差異有統計學意義(單體型TS組統計區體素數目分彆4117、1392、1085,t值分彆為5.75、5.33、5.02；雜閤型TS組統計區體素數目為4501、2437、591,t值分彆為5.40、5.11、4.95,P值均＜0.01,FWE校正)；兩組TS患兒均在眶額迴、海馬徬迴、小腦、島葉,右側顳極、紋狀體,中腦揹側灰質體積增加,差異有統計學意義(單體型TS組統計區體素數目分彆為1444、1188、791、725、695、431、386,t值分彆為5.01、5.96、5.67、5.23、4.85、4.43、4.94；雜閤型TS組統計區體素數目分彆為6988、2709、2510、2380、1987、1709、1185,t值分彆為6.50、7.06、7.26、5.27、5.71、6.02、4.56,P值均＜0.01,FWE校正).單體型TS組與雜閤型TS組比較,雜閤型TS組在左側海馬、紋狀體較單體型TS組灰質體積增加(體素數目分彆為1014、496,中心坐標t值分彆為4.75和4.53,P值均＜0.01,FWE校正),在右側緣上迴灰質體積減少(體素數目為350,中心坐標t值為4.28,P＜0.01,FWE校正),差異有統計學意義.結論 單體型與雜閤型TS患兒均存在頂枕葉的萎縮,說明單體型與雜閤型TS導緻的腦皮層髮育障礙類似；而雜閤型TS患兒雙側前額葉、顳葉與小腦的體積增加區域較單體型更為廣汎,提示雜閤型TS可能更多利用這些腦區進行代償.
목적 이용기우체소적형태측량학(VBM)방법,탐측불동핵형특납종합정(TS)환인뇌회질체적이상적차이.방법 19례염색체핵형위45XO적단체형TS환인화21례잡합핵형적TS환인이급20명정상인동(대조조)진행료위씨지력측량화3.0TMR소묘.단체형TS환인조、잡합형TS환인조화대조조적전뇌고분변솔T1WI도상채용통계삼수도(SPM)8연건포진행VBM분석,이전뇌회질총체적위협변량,비교3조지간전뇌회질체적적차별,채용공능신경도상분석연건AFNI연건포중적몽특잡락모의방법(AlphaSim방법)진행족수평상적다중비교교정.결과 단체형TS조환인위씨총지상치위(89±16)분,잡합형TS조위(91±13)분,이대조조위씨총지상치위(109±15)분,3조지상차이구유통계학의의(F=10.75,P＜0.05).여대조조비교,단체형TS조급잡합형TS조균표현쌍측설협、중앙후회、구대회회질체적감소,차이유통계학의의(단체형TS조통계구체소수목분별4117、1392、1085,t치분별위5.75、5.33、5.02；잡합형TS조통계구체소수목위4501、2437、591,t치분별위5.40、5.11、4.95,P치균＜0.01,FWE교정)；량조TS환인균재광액회、해마방회、소뇌、도협,우측섭겁、문상체,중뇌배측회질체적증가,차이유통계학의의(단체형TS조통계구체소수목분별위1444、1188、791、725、695、431、386,t치분별위5.01、5.96、5.67、5.23、4.85、4.43、4.94；잡합형TS조통계구체소수목분별위6988、2709、2510、2380、1987、1709、1185,t치분별위6.50、7.06、7.26、5.27、5.71、6.02、4.56,P치균＜0.01,FWE교정).단체형TS조여잡합형TS조비교,잡합형TS조재좌측해마、문상체교단체형TS조회질체적증가(체소수목분별위1014、496,중심좌표t치분별위4.75화4.53,P치균＜0.01,FWE교정),재우측연상회회질체적감소(체소수목위350,중심좌표t치위4.28,P＜0.01,FWE교정),차이유통계학의의.결론 단체형여잡합형TS환인균존재정침협적위축,설명단체형여잡합형TS도치적뇌피층발육장애유사；이잡합형TS환인쌍측전액협、섭협여소뇌적체적증가구역교단체형경위엄범,제시잡합형TS가능경다이용저사뇌구진행대상.
Objective To detect the difference of cerebral gray matter change in children with different karyotype Turner Syndrome (TS) by using voxel-based morphometry (VBM).Methods Nineteen children with 45XO karyotype TS,21 children with heterozygous TS and 20 age-matched control girls were recruited in this study.Wechsler intelligence scale for children was used to obtain their intelligence quotients (IQ).High-resolution magnetic MR imaging was performed in TS children and control girls to collect the whole brain structural data.The data was analyzed by VBM based on SPM8 to compare the volume of gray matter among the monosomy TS children,heterozygous TS children and normal controls by using covariance analysis.Alphasim method in the software of analysis of functional neuroimages(AFNI) was used for clusterlevel multiple comparison.Results The IQ was 89 ± 16 for the monosomy TS children,and it was 91 ± 13 for heterozygous TS children and 109 ± 15 for the controls.Statistical analysis revealed significant difference of IQ among them (F =10.75,P ＜ 0.05).Compared with normal controls,both monosomy TS children and heterozygous TS children showed significantly decreased volume (voxel numbers in clusters were 4117,1392,1085,t =5.75,5.33 and 5.02 for monosomy TS; voxel numbers in clusters were 4501,2437,591,t =5.40,5.11 and 4.95 for heterozygous TS respectively,P ＜ 0.01,FWE-corrected) in the gray matter of bilateral precuneus lobule,postcentral gyrus,and cingulum cortex.However,the volume of the orbitofrontal lobe,parahippocampal gyrus,cerebellum,temporal pole,corpus striatum and posterior midbrain were increased in the monosomy and heterozygous TS children compared to the controls (voxel numbers in clusters were 1444,1188,791,725,695,431,386,t =5.01,5.96,5.67,5.23,4.85,4.43,4.94 for monosomy TS; voxel numbers in clusters were 6988,2709,2510,2380,1987,1709,1185,t =6.50,7.06,7.26,5.27,5.71,6.02,4.56 for heterozygous TS,P ＜ 0.01,FWE-corrected).Compared with monosomy TS,heterozygous TS showed increased gray matter volume in the left parahippocampal gyrus and corpus striatum (voxel numbers were 1014 and 496,t =4.75,4.53,P ＜0.01,FWE-eorreeted),while they had decreased gray matter volume in the right supramarginal gyrus (voxel number was 350,t =4.28,P ＜ 0.01,FWE-corrected).Conclusions Both monosomy and heterozygous TS show brain atrophy in the parietooccipital lobe,indicating similar abnormality of gray matter development.However,heterozygous TS shows more increased gray matter volume in the prefrontal lobes and the cerebellum than monosomy TS,which may be the compensatory mechanism in this condition.
