Chang Y C, Huang C C, Huang S C
Department of Pediatrics, Chang Gung Children's Hospital, Kaohsiung, Taiwan.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1998 Sep-Oct;39(5):285-92.
The recent volumetric neuroimaging studies in children with fragile X syndrome, Down syndrome (DS), Rett syndrome (RS), and Tourette syndrome (TS) were reviewed. Neuroimaging studies and cognitive and behavioral phenotypes pertinent to each disorder were reviewed within the context of current knowledge of their neurobiological mechanisms. The mainly involved brain regions in fragile X syndrome are the cerebellar vermis, temporal areas, and the caudate nucleus which may be related to autistic tendency, problems of memory and language and deficits in executive function, respectively. The preferential involvement of frontal lobe, cerebellum and mesial temporal areas may correspond to the selective language and speech deficits in DS children. There was significantly generalized cerebral volume reduction with greater loss of gray matter in comparison to white matter, consistent with the extensive clinical features of RS. Right side predominance of basal ganglia supported the suggestion that the basal ganglia is related to pathogenesis of TS, which may also be related to the impaired executive function and the absence of functional asymmetry. Further prospectives for integrating neuroanatomic findings and neurobehavioral studies also were discussed.
本文综述了近期针对脆性X综合征、唐氏综合征（DS）、雷特综合征（RS）和图雷特综合征（TS）患儿的容积性神经影像学研究。在了解每种疾病神经生物学机制的背景下，对与各疾病相关的神经影像学研究以及认知和行为表型进行了综述。脆性X综合征主要累及的脑区是小脑蚓部、颞叶区域和尾状核，分别可能与自闭症倾向、记忆和语言问题以及执行功能缺陷有关。额叶、小脑和内侧颞叶区域的优先受累可能与DS患儿的选择性语言和言语缺陷相对应。与白质相比，RS存在显著的全脑体积减少且灰质损失更大，这与RS广泛的临床特征一致。基底神经节右侧优势支持了基底神经节与TS发病机制相关的观点，这也可能与执行功能受损和功能不对称缺失有关。此外，还讨论了整合神经解剖学发现和神经行为研究的进一步前景。
