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  1. NTU Theses and Dissertations Repository
  2. 醫學院
  3. 腦與心智科學研究所
Please use this identifier to cite or link to this item: http://tdr.lib.ntu.edu.tw/jspui/handle/123456789/67068
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???org.dspace.app.webui.jsptag.ItemTag.dcfield???ValueLanguage
dc.contributor.advisor李旺祚(Wang-Tso Lee)
dc.contributor.authorTz-Yun Janen
dc.contributor.author詹子昀zh_TW
dc.date.accessioned2021-06-17T01:19:00Z-
dc.date.available2019-08-10
dc.date.copyright2017-09-12
dc.date.issued2017
dc.date.submitted2017-08-11
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dc.identifier.urihttp://tdr.lib.ntu.edu.tw/jspui/handle/123456789/67068-
dc.description.abstractObjective: Rett syndrome (RTT) is a neurodevelopmental disease that primarily affects girls. It is characterized by trajectory changes in communication, cognition and motor functions. Researches in neuropathology showed some marked changes in total brain volume and cerebral size. To understand the disease-specific pathological changes of brainmicrostructures in RTT, we applied cortical volume data and tract-specific analysis to investigate the alteration of brain microstructure and utilized susceptibility weighted imaging (SWI) to detect abnormal iron accumulation. Methods: We recruited 28 patients and 32 age- and sex-matched healthy controls. All of the scans were acquired by 3 tesla scanner with 32-channel phased array coil. MR imaging consists of sagittal T1-weighted and axial T2 fast spin-echo. A total of 102 diffusion encoding gradients with the maximum diffusion sensitivity were applied in diffusion spectrum imaging (DSI) and SWI sequence with flow compensation was used to acquire high-resolution imaging. Four cortical lobes were compared separately in two age groups for clarifying the regional difference. The volume data were analyzed and extracted from Freesurfer software. The generalized fractional anisotropy (GFA) value of targeted tracts were analyzed from tract-based automatic analysis (TBAA) and calculated by two sample t-test with Bonferroni correction. Signal intensity on the SWI weremeasured on subcortical regions and compared with health controls. Finally, Spearman's rank correlation coefficient was used in correlation between clinical presentation and brain microstructural alterations. Results: The regional difference in gray matter showed significant decrease in bilateral frontal lobes and parietal lobes in younger patients and general decrease in four lobes in older patients. GFA values in speech-language related tracts were significantly reduced in older RTT patients. The alteration of speech-language-related tracts between the patients with/without speech was only observed in arcuate fasciculus. The comparison of visual perception-related tracts showed no difference in GFA values between younger groups, but showed severe reduction in older patients. Interestingly, the anterior commissure in both RTT groups showed higher GFA value than healthy controls and the integrity revealed a mild association with visual motor function. In addition, the motorrelated fiber tracts in older RTT group showed lower GFA values, primarily located in frontal striatum and callosal fibers. However, the change of the fiber tracts with significant reduction was not correlated with the changes in motor scales. Furthermore, the contrast ratio in SWI showed significantly lower in striatum of RTT. Discussion: To investigate the microstructural alteration in the different age, we found the progressive changes in the cerebral cortex with age and the reductions in fiber tracts. In the light of early delayed speech-language millstone in RTT and the association with speech ability and GFA values, the integrity of arcuate fasciculus can be a language marker for RTT and for follow-up research. The visual perception-related tracts were associated with visual motor function. These may prove the activity-driven increasing in white matter tracts, even suffering from the severe damage of disease. On the other hand, the cortico-basal ganglia-thalamo-cortical loop in RTT was generally impaired though without correlation with the behavioral data. The consequence may be related to complex neuron network and neuron dysfunction in movement. Moreover, we discovered the abnormal iron accumulation in RTT with uncertain reason. Therefore, a longitudinal cohort study is mandatory to elucidate the effect of the subtle change in basal ganglia.en
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dc.description.tableofcontentsAcknowledgement I
中文摘要 II
Abstract IV
1 Introduction 1
1.1 Biology of brain in Rett syndrome1
1.2 Manifestations of clinical phenotypes in Rett syndrome 2
1.3 The alteration of cortical gray matter and white matter in normal children and adolescent 4
1.4 Neuroimaging findings in brain structure of Rett syndrome 5
1.5 The unknown storm in basal ganglia of Rett syndrome 8
2 Rationale and Hypothesis 10
3 Material and Method 12
3.1 Study Participants 12
3.2 Image data acquisition and processing 13
3.2.1 Conventional MR imaging 13
3.2.2 Diffusion spectrum image (DSI) 15
3.2.3 Susceptibility weighted image(SWI) 18
3.3 Questionnaire and assessment tool 20
3.4 Statistical analysis 24
4 Results 27
4.1 Demography 27
4.2 Behavioral results in neuro-motor development and clinical
presentations between two age groups in Rett syndrome 27
4.3 Volume changes in cortical lobe between Rett syndrome and control in two group 29
4.4 Microstructural changes in speech-language related fiber tracts 30
4.5 Microstructural changes in visual perception-related fiber tracts 31
4.6 Microstructural changes in motor function related-fiber tracts 31
4.7 The correlation between functional change and white matter integrity 32
4.8 The alteration of signal intensity in basal ganglia and the correlation with age and behavior 33
5 Discussion 36
5.1 Demographic data in Rett syndrome 36
5.2 Brain volume changes in Rett syndrome are consistent to developmental sequence in cortical lobe 39
5.3 The changes in clinical presentations are related to functional fiber tracts 40
5.4 Abnormal iron accumulation in Rett syndrome 47
5.5 Limitations 48
6 Conclusions 50
7 Reference 51
8 Tables 64
9 Figures 87
dc.language.isoen
dc.title雷特氏症之大腦結構改變與臨床表現的相關性zh_TW
dc.titleThe brain microstructural change and its correlation with
clinical presentations in Rett syndrome
en
dc.typeThesis
dc.date.schoolyear105-2
dc.description.degree碩士
dc.contributor.coadvisor曾文毅(Wen-Yih Isaac Tseng)
dc.contributor.oralexamcommittee彭信逢,吳恩賜
dc.subject.keyword雷特氏症,一般性磁振造影,磁振擴散頻譜造影,磁敏感加權造影,全腦神經束自動分析,腦部結構改變,鐵離子沉積,zh_TW
dc.subject.keywordRett syndrome,DSI,SWI,TBAA,regional difference,iron accumulation,en
dc.relation.page101
dc.identifier.doi10.6342/NTU201702958
dc.rights.note有償授權
dc.date.accepted2017-08-12
dc.contributor.author-college醫學院zh_TW
dc.contributor.author-dept腦與心智科學研究所zh_TW
dc.date.embargo-terms2300-01-01
dc.date.embargo-lift2300-01-01-
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