基于纤维骨架空间统计方法对雷特综合征患儿脑白质结构与疾病严重度和发育水平的病例对照研究

背景动物模型及细胞学水平研究提出雷特综合征(RTT)存在神经元发育不成熟及连接障碍,但在RTT患儿中大脑白质发育及连接情况不明。目的利用MR弥散张量成像(DTI)探讨RTT患儿白质参数指标异常情况及与疾病严重度和发育水平的相关性。设计病例对照研究。方法以复旦大学附属儿科医院(我院)符合典型RTT诊断,存在MECP2基因突变或缺失,行MR常规扫描、Griffith精神发育量表-中文版(GDS-C)测评和RTT严重程度评分(RSSS)的2～6岁患儿为RTT组,以与病例组同期在我院儿保科及神经内科因主诉头晕、头痛就诊并行头颅MR平扫未发现局灶性或者弥漫性颅内病变且行中国常模标准化量表丹佛发育筛查(DST)结果为正常的2～6岁女孩为对照组(TD组)。GDS-C、RSSS和DST测评均在我院儿童保健科完成,测评时间与MR检查相距≤1个月。统一使用我院MR设备,设定DTI序列行MR扫描并获得DTI的4项参数,利用基于纤维骨架的空间统计学(TBSS)进行统计学分析,获得两组间参数差异及定位脑区。主要结局指标 RTT白质异常脑区与RSSS和GDS-C各能区的相关性。结果 2014年6月至2021年6月RTT组22例、TD组23例进入分析,两组年龄差异无统计学意义。RTT组RSSS测评5.5±1.33,GDS-C总发育商(DQ)15.8±6.8,其中运动能区发育商(ADQ)为30.2±10.6、个人-社会能区发育商(BDQ)为14.6±9.1、听力-语言能区发育商(CDQ)为15±7.7、手眼协调能区发育商(DDQ)为9.9±6.2、表现能区发育商(EDQ)为9.2±3.9。TD组DST测评总DQ为94～118 (103±7)。各向异性(FA)值RTT组低于TD组,平均弥散量(MD)值和径向弥散率(DR)值RTT组高于TD组,差异均有统计学意义;轴向弥散率(DA)值2组差异无统计学意义。DTI白质TBSS分析结果(FDR校正,P0.05):RTT组较TD组FA值减低的纤维束主要位于胼胝体的辐射线额部及压部、双侧上纵束、左侧下纵束、内囊后肢及钩形束;RTT组较TD组MD值增加的纤维束主要位于胼胝体体部;RTT组较TD组DR值增加的纤维束主要位于胼胝体膝部、压部及右侧矢状层;RTT组较TD组DA值增加的纤维束主要位于胼胝体体部和压部。RTT的RSSS得分与胼胝体辐射线额部和左侧上纵束的FA值呈负相关,与胼胝体体部MD值、DR值和DA值呈正相关。内囊后肢FA值与GDS-C总DQ、A～E能区的DQ均呈正相关。右侧矢状层DR值与GDS-C总DQ、A～E能区的DQ均呈负相关。结论 RTT儿童可能存在胼胝体发育不良、大脑广泛性连接障碍及皮层下-皮层环路的结构和连接异常。     

应用弥散张量成像评价支气管肺发育不良早产儿脑白质发育的研究

目的 应用磁共振弥散张量成像（DTI）的各项异性分数（FA）和表观弥散系数（ADC）评价支气管肺发育不良（BPD）早产儿的脑白质发育。方法 以2016年8月至2019年4月生后24 h内收住NICU的出生胎龄≤32周、出生体重<1 500 g,且出院前完成头颅MRI及DTI检查的96例早产儿为研究对象。根据出院诊断分为BPD组（n=48）和非BPD组（n=48）,比较两组DTI相同感兴趣区的FA值和ADC值。结果 两组早产儿脑室周围-脑室内出血、脑室周围白质软化、局灶性脑白质损伤等发生率差异无统计学意义（P > 0.05）。BPD组早产儿内囊后肢、胼胝体压部、枕叶白质、小脑、大脑脚的FA值低于非BPD组（P < 0.05）,各ADC值高于非BPD组（P < 0.05）。与非BPD组相比,BPD组早产儿呼吸暂停次数更多、肺炎发生率和机械通气比例更高、辅助通气时间更长（P < 0.05）。结论 BPD对早产儿脑白质发育具有潜在影响,可导致脑白质发育延迟,因此,需关注该类患儿的神经功能。     

应用弥散张量成像评价支气管肺发育不良早产儿脑白质发育的研究

目的 应用磁共振弥散张量成像（DTI）的各项异性分数（FA）和表观弥散系数（ADC）评价支气管肺发育不良（BPD）早产儿的脑白质发育。方法 以2016年8月至2019年4月生后24 h内收住NICU的出生胎龄≤32周、出生体重<1 500 g,且出院前完成头颅MRI及DTI检查的96例早产儿为研究对象。根据出院诊断分为BPD组（n=48）和非BPD组（n=48）,比较两组DTI相同感兴趣区的FA值和ADC值。结果 两组早产儿脑室周围-脑室内出血、脑室周围白质软化、局灶性脑白质损伤等发生率差异无统计学意义（P > 0.05）。BPD组早产儿内囊后肢、胼胝体压部、枕叶白质、小脑、大脑脚的FA值低于非BPD组（P < 0.05）,各ADC值高于非BPD组（P < 0.05）。与非BPD组相比,BPD组早产儿呼吸暂停次数更多、肺炎发生率和机械通气比例更高、辅助通气时间更长（P < 0.05）。结论 BPD对早产儿脑白质发育具有潜在影响,可导致脑白质发育延迟,因此,需关注该类患儿的神经功能。     

早期应用重组人促红细胞生成素对早产儿脑白质发育的影响

目的 应用磁共振弥散张量成像（DTI）的部分各项异性参数（FA）评价早期应用重组人促红细胞生成素（rhEPO）对早产儿脑白质发育的影响。方法 以81例胎龄≤ 32周、出生体重 < 1 500 g、生后24 h内住院的早产儿为研究对象,随机分为两组：rhEPO组（42例）使用rhEPO治疗,对照组（39例）使用等体积的生理盐水注射。2组均于纠正胎龄35~37周行头部MRI、DWI、DTI检查,并测定相同感兴趣区的部分各项异性参数（FA）。结果 两组早产儿颅内出血、脑室周围白质软化、局灶性脑白质损伤、广泛性脑白质损伤等发生率的差异无统计学意义（P > 0.05）。rhEPO组早产儿内囊后肢、胼胝体压部、额叶白质、枕叶白质FA值高于对照组（P < 0.05）,2组早产儿顶叶白质、丘脑、豆状核、尾状核FA值的差异无统计学意义（P > 0.05）。结论 早期应用重组人红细胞生成素对早产儿脑白质发育有神经保护作用。     

磁共振弥散张量成像在新生儿胆红素血症所致神经功能障碍中的应用

目的 探讨磁共振弥散张量成像（DTI）感兴趣区（ROI）各向异性分数（FA）值在新生儿高胆红素血症所致神经功能障碍（BIND）中的价值。方法 收集2017年1月至2018年1月住院的高胆红素血症新生儿91例,根据血清总胆素峰值分为轻-中度增高组（n=45）、重度增高组（n=35）、极重度增高组（n=11）。根据是否存在异常神经系统表现分为神经功能障碍组（n=20）、非神经功能障碍组（n=71）。选择同期正常健康足月儿10例为对照组。所有新生儿完成头部DTI检查,测量并比较双侧苍白球、内囊前肢、内囊后肢、小脑齿状核的FA值。结果 极重度增高组苍白球FA值低于对照组、轻-中度增高组及重度增高组（P < 0.05）,重度增高组苍白球FA值低于对照组（P < 0.05）。极重度增高组内囊后肢FA值低于对照组、轻-中度增高组及重度增高组（P < 0.05）。神经功能障碍组苍白球、内囊后肢FA值低于非神经功能障碍组（P < 0.05）。结论 血清胆红素水平结合DTI在苍白球区、内囊后肢FA值的变化,推测BIND患儿可能同时存在神经核团及脑白质纤维损伤。     

Griffiths发育评估量表-中文版在注意缺陷多动障碍儿童中的发展水平结构模式分析

目的　应用Griffiths发育评估量表-中文版（GDS-C）评估注意缺陷多动障碍（ADHD）儿童的发育水平,并对各个能区的结构模式进行分析,从而指导制定有效的康复干预方案。方法　选取2018年4月至2019年4月在浙江大学医学院附属儿童医院康复科就诊且符合美国《精神障碍诊断与统计手册（第5版）》（DSM-Ⅴ）关于ADHD诊断标准的28例儿童为ADHD组,将同性别、年龄±1个月1∶1配对的28名健康儿童为对照组。两组儿童均进行GDS-C发育评估,比较两组儿童在运动、个人-社会、听力-语言、手眼协调、表现、实际推理各个能区的得分和总发育商的差别,并分析各个能区的结构模式。结果　ADHD组儿童各个能区的得分和总发育商均低于对照组,且运动、个人-社会、手眼协调能区的得分和总发育商在两组比较中的差异具有统计学意义（t＝-7.07,-4.75,-7.60,-7.65,P＜0.05）。各能区结构模式的分析比较：ADHD组儿童运动能区的体能与力量、深度感觉、身体粗大协调能力、粗大视觉运动协调性,个人-社会能区的交际技巧、做家务技巧、穿衣和自我照顾,听力-语言能区的记忆,手眼协调能区的认识形状、创造性和双侧协调性以及表现能区的视觉空间推理方面均弱于健康对照组儿童,P值均＜0.05。结论　应用Griffiths发育评估量表-中文版（GDS-C）评估,ADHD儿童的总体发育落后于正常儿童,表现在运动、个人-社会和手眼协调能区,且根据GDS-C的评估结果和结构模式分析可以帮助制定ADHD儿童合适水平的个体化训练策略。     

Griffiths发育评估量表-中文版在注意缺陷多动障碍儿童中的发展水平结构模式分析

目的　应用Griffiths发育评估量表-中文版（GDS-C）评估注意缺陷多动障碍（ADHD）儿童的发育水平,并对各个能区的结构模式进行分析,从而指导制定有效的康复干预方案。方法　选取2018年4月至2019年4月在浙江大学医学院附属儿童医院康复科就诊且符合美国《精神障碍诊断与统计手册（第5版）》（DSM-Ⅴ）关于ADHD诊断标准的28例儿童为ADHD组,将同性别、年龄±1个月1∶1配对的28名健康儿童为对照组。两组儿童均进行GDS-C发育评估,比较两组儿童在运动、个人-社会、听力-语言、手眼协调、表现、实际推理各个能区的得分和总发育商的差别,并分析各个能区的结构模式。结果　ADHD组儿童各个能区的得分和总发育商均低于对照组,且运动、个人-社会、手眼协调能区的得分和总发育商在两组比较中的差异具有统计学意义（t＝-7.07,-4.75,-7.60,-7.65,P＜0.05）。各能区结构模式的分析比较：ADHD组儿童运动能区的体能与力量、深度感觉、身体粗大协调能力、粗大视觉运动协调性,个人-社会能区的交际技巧、做家务技巧、穿衣和自我照顾,听力-语言能区的记忆,手眼协调能区的认识形状、创造性和双侧协调性以及表现能区的视觉空间推理方面均弱于健康对照组儿童,P值均＜0.05。结论　应用Griffiths发育评估量表-中文版（GDS-C）评估,ADHD儿童的总体发育落后于正常儿童,表现在运动、个人-社会和手眼协调能区,且根据GDS-C的评估结果和结构模式分析可以帮助制定ADHD儿童合适水平的个体化训练策略。     

磁共振弥散张量成像定量评价生长受限胎儿脑白质发育的研究

目的探讨胎儿生长受限(FGR)是否对胎儿脑白质发育造成不良影响。方法选择28例足月小于胎龄儿(SGA)为研究对象,15例足月适于胎龄儿(AGA)为对照组,均行头颅磁共振及磁共振弥散张量成像(DTI),将颅脑白质分为122个脑区,比较两组不同脑区各向异性分数(FA)、平均弥散系数(MD)、平行弥散系数(λ_//)及垂直弥散系数(λ_⊥)的差异。结果 SGA儿16个脑区的FA值低于对照组(P0.01);7个脑区的MD值高于对照组(P0.05);8个脑区的λ_//值高于对照组(P0.05);16个脑区的λ_⊥值高于对照组(P0.05)。结论宫内生长受限可导致脑白质纤维束成熟度及完整性异常。     

支气管肺发育不良早产儿生后1年内神经行为发育的临床分析

目的 探讨支气管肺发育不良（BPD）对早产儿生后1年内神经行为发育的影响。方法 回顾性选取2017年9月至2019年12月间出生胎龄 < 34周，并完成纠正胎龄40周及3、6、12月龄神经行为发育随访的早产儿为研究对象。根据诊断分为BPD组（n=23）和非BPD组（n=27），比较两组患儿不同时点的神经行为发育结果。结果 BPD组与非BPD组患儿纠正胎龄40周时新生儿神经行为测定评分差异无统计学意义（P > 0.05）。Gesell发育量表中，BPD组纠正胎龄3、6、12月龄时精细动作、适应性行为、社交行为能区发育商（DQ）及总DQ低于非BPD组（P < 0.05）；两组患儿纠正胎龄6月龄时言语能区DQ高于纠正胎龄12月龄（P < 0.017），纠正胎龄6月龄时社交行为能区DQ高于纠正胎龄3月龄（P < 0.017），纠正胎龄12月龄时适应性行为能区DQ高于纠正胎龄3、6月龄（P < 0.017）。Bayley发育量表Ⅱ中，两组患儿各时点智力和运动发展指数差异无统计学意义（P > 0.05），纠正胎龄3月龄时智力发展指数高于纠正胎龄6、12月龄（P < 0.001）。结论 BPD早产儿在生后1年内较非BPD早产儿存在神经发育落后，临床需给予重视。     

语言发育迟缓儿童的发育水平剖析

目的 探索语言发育迟缓儿童的发育特征,为其早期发现和干预提供参考性的建议.方法 对200例语言发育迟缓的儿童进行Gesell婴幼儿发育量表的测试,并分析36个月前后Gesell 4个能区的发育商(DQ)、生理年龄与发育年龄之间的差距以及发育异常的比例.结果 200例语言发育迟缓儿童的Gesell发育评估显示,4个能区的平均发育商(DQ)均低于正常;对应的4个能区生理年龄与发育年龄之间的差距(月)分别为5.3±7.0、7.2±8.2、14.2±7.2、8.4±7.2.36个月以上组儿童的4个能区DQ显著低于36个月以下组(P<0.01),且生理年龄与发育年龄之间的差距增大(P<0.01).结论 36个月后语言发育仍落后者,绝大部分儿童并不是单纯的语言问题,更可能是全面的发育迟缓,且发育年龄与生理年龄相差至少11个月,将面临语言交流、社会交往、生活适应和学习等诸多困难,是特别需要高度关注和干预的对象.     

Tract-specific analyses of diffusion tensor imaging show widespread white matter compromise in autism spectrum disorder

Background: Previous diffusion tensor imaging (DTI) studies have shown white matter compromise in children and adults with autism spectrum disorder (ASD), which may relate to reduced connectivity and impaired function of distributed networks. However, tract‐specific evidence remains limited in ASD. We applied tract‐based spatial statistics (TBSS) for an unbiased whole‐brain quantitative estimation of the fractional anisotropy (FA), mean diffusion (MD) and axial and radial diffusion of the white matter tracts in children and adolescents with ASD. Methods: DTI was performed in 26 ASD and 24 typically developing (TD) participants, aged 9–20 years. Groups were matched for age and IQ. Each participant’s aligned FA, MD and axial and radial diffusion data were projected onto the mean FA skeleton representing the centers of all tracts and the resulting data fed into voxelwise group statistics. Results: TBSS revealed decreased FA and increased MD and radial diffusion in the ASD group compared to the TD group in the corpus callosum, anterior and posterior limbs of the internal capsule, inferior longitudinal fasciculus, inferior fronto‐occipital fasciculus, superior longitudinal fasciculus, cingulum, anterior thalamic radiation, and corticospinal tract. No single site with inverse effects (increased FA, reduced MD or radial diffusion in the ASD group) was detected. In clusters of significant group difference, age was positively correlated with FA and negatively correlated with MD and radial diffusion in the TD, but not the ASD group. Conclusions: Our findings reveal white matter compromise affecting numerous tracts in children and adolescents with ASD. Slightly varying patterns of diffusion abnormalities detected for some tracts may suggest tract‐specific patterns of white matter abnormalities associated with ASD. Age‐dependent effects further show that maturational changes (increasing FA, decreasing MD and radial diffusion with age) are diminished in ASD from school‐age childhood into young adulthood.     

Development of corpus callosum in preterm infants is affected by the prematurity: in vivo assessment of diffusion tensor imaging at term-equivalent age

Callosal injury in preterm infants is a key factor affecting neurodevelopmental outcome. We investigated the characteristics of corpus callosum (CC) in preterm infants without apparent white matter lesions. We studied 58 preterm infants divided into three groups of 23-25, 26-29, and 30-33 wk GA. Diffusion tensor imaging (DTI) was obtained at term-equivalent age. The CC was parcellated into the genu, body, isthmus, and splenium. We measured fractional anisotropy (FA) and apparent diffusion coefficient (ADC) of each CC subdivision using tractography and manual region of interest analysis. The cross-sectional areas were also measured. At the isthmus and splenium in the 23-25 GA group, the FA was significantly lower and the size was also significantly reduced. Furthermore, the FA and cross-sectional areas in the posterior CC decreased linearly with decreasing GA. There were no differences in FA and cross-sectional areas in other CC subdivisions, and no differences in ADC in any CC subdivisions, among the GA groups. We demonstrated that preterm infants without apparent white matter lesions affect development of the posterior CC depending on the degree of prematurity.     

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??Abstract??Objective The purpose of this study was to use diffusion tensor imaging to investigate the status of cerebral white matter??WM?? maturation in the first 2 years after birth. Methods A total of 67 children ranging in age from birth to 24 months underwent conventional MRI and diffusion tensor imaging with gradient encoding in fifteen directions?? all on a 1.5T MRI system. All children were divided into six groups according to month. Fractional anisotropy was measured in five deep WM structures ??posterior limb of internal capsule?? anterior limb of internal capsule?? genu and splenium of corpus callosum?? optic radiation?? and four peripheral WM regions??associational WM underlying prefrontal?? occipital cortex?? temporal lobe and centrum semiovale??. Results In the same months of age?? different parts of the white matter FA values were significantly different??the deep white matter FA values were higher than the shallow??in birth-to-28 days baby?? corpus callosum FA values was the highest in deep white matter ??followed by the corpus callosumknee?? posterior limb of internal capsule?? optic radiation and limb of internal capsule??in the shallow white matter??centrum semiovale was the highest?? followed by the temporal lobe?? frontal lobe and occipital subcortical white matter. With increasing month-old?? white matter FA values of the various parts gradually increased??showing positive correlation. In the same parts of the white matter??FA values change in different rate for different ages??which was a statistically significant ??P??0.05??. Conclusion Combination of T1WI and T2WI and diffusion tensor imaging can be used for quantitative evaluation of cerebral white matter development of children in the first 2 years after birth..     

A comparative magnetic resonance imaging study of the corpus callosum in neurologically normal children and children with spastic diplegia

To determine the extent of brain damage in children with spastic diplegia, we analyzed the true midsagittal magnetic resonance imaging findings for the corpus callosum in 43 children with spastic diplegia and in 69 neurologically normal children. In the normal children, the thicknesses of the genu, midbody, splenium and the entire corpus callosum were found to increase with age, while the ratios of the thickness of the splenium and of the midbody to the length were constant, regardless of age. Both ratios were significantly reduced in diplegic children and the ratio for the splenium was highly correlated with the extent of motor impairment. Assessment of the morphometric changes in the corpus callosum using magnetic resonance imaging may contribute to the determination of the extent of brain damage in diplegic children.     

早产儿与足月儿胼胝体面积的对比研究

目的 比较足月儿与发育至同龄的极低出生体重（VLBW）早产儿胼胝体及其分区面积的差异,以期为早产儿胼胝体宫外生长发育监测提供参考。方法 24例胎龄为39周的足月儿于出生当日、30例VLBW早产儿于纠正胎龄39周时分别接受颅脑高场MRI检查,扫描序列为T1WI、T2WI和DWI,选择T1WI正中矢状位图像,共得到49例合格的颅脑MRI图像,其中足月儿组21例,VLBW早产儿组28例;由两名影像学医师于不同时间分别勾画两次胼胝体及大脑,使用MATLAB R2010a中的图像处理函数对所勾画的图像进行测量,得到胼胝体及其6个分区面积。结果 VLBW早产儿组整个胼胝体及其6个分区中的前中体部、后中体部、峡部和压部面积均小于与之同龄的足月儿组（均PP>0.05）。结论 早产儿胼胝体后部区域的发育可能更容易受到病理因素的影响。     

Microstructure of transcallosal motor fibers reflects type of cortical (re-)organization in congenital hemiparesis

BackgroundEarly unilateral brain lesions can lead to different types of corticospinal (re-)organization of motor networks. In one group of patients, the contralesional hemisphere exerts motor control not only over the contralateral non-paretic hand but also over the (ipsilateral) paretic hand, as the primary motor cortex is (re-)organized in the contralesional hemisphere. Another group of patients with early unilateral lesions shows “normal” contralateral motor projections starting in the lesioned hemisphere.AimWe investigated how these different patterns of cortical (re-)organization affect interhemispheric transcallosal connectivity in patients with congenital hemiparesis.MethodEight patients with ipsilateral motor projections (group IPSI) versus 7 patients with contralateral motor projections (group CONTRA) underwent magnetic resonance diffusion tensor imaging (DTI). The corpus callosum (CC) was subdivided in 5 areas (I–V) in the mid-sagittal slice and volumetric information. The following diffusion parameters were calculated: fractional anisotropy (FA), trace, radial diffusivity (RD), and axial diffusivity (AD).ResultsDTI revealed significantly lower FA, increased trace and RD for group IPSI compared to group CONTRA in area III of the corpus callosum, where transcallosal motor fibers cross the CC. In the directly neighboring area IV, where transcallosal somatosensory fibers cross the CC, no differences were found for these DTI parameters between IPSI and CONTRA. Volume of callosal subsections showed significant differences for area II (connecting premotor cortices) and III, where group IPSI had lower volume.InterpretationThe results of this study demonstrate that the callosal microstructure in patients with congenital hemiparesis reflects the type of cortical (re-)organization. Early lesions disrupting corticospinal motor projections to the paretic hand consecutively affect the development or maintenance of transcallosal motor fibers.     

Anterior callosal agenesis in mild,lobar holoprosencephaly

The corpus callosum normally grows in a ventral to dorsal direction with the genu appearing first followed by posterior growth to form the body and splenium. In holoprosencephaly there usually is a malformation of the lamina terminalis which results in lack of formation of the corpus callosum. This paper presents a patient with mild, lobar holoprosencephaly in whom a different type of callosal dysgenesis was detected: the callosal body and splenium were apparently formed but the anterior parts were absent. The existence of this type of callosal dysgenesis appears to be in contrast to current theories on callosal development.