自闭症的结构MRI:发现和未来方向

Matthew Mosconi , Lonnie Zwaigenbaum , Joseph Piven
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引用次数: 18

摘要

直到最近几年,对自闭症患者大脑的结构核磁共振研究得出了不一致的结果。过去十年的研究揭示了一些令人兴奋的新发现,并对这种疾病的发病和病因提出了新的假设。在自闭症中最一致的核磁共振发现是大脑变大了。研究表明,大脑过度生长可能在发育的早期最为强劲,但在青春期和成年早期,人们观察到大脑体积的增加。回顾性头围研究表明,脑肿大可能发生在出生后一年的后半段,而不是出生时出现。最近对自闭症儿童的兄弟姐妹的研究表明,自闭症的核心行为特征也发生在第一年的后半段,可能不会在6个月大的时候出现。自闭症患者大脑和行为异常的发病时间一致表明,这些特征可能是相关的。未来对自闭症儿童的兄弟姐妹进行纵向MRI研究将有助于阐明这种关系,并有可能描述这种疾病的发病机制。自闭症的结构MRI研究的其他发现已经开始绘制大脑皮层叶和组织类型(灰质和白质)过度生长的模式。这些研究有些不一致,但表明普遍的过度生长影响皮质灰质和皮质白质,以及几个皮质下结构。受影响区域的扩散网络将研究重点从对特定区域和结构的假设转移到更广泛的机制,包括神经回路和神经元水平的扩散机制。这些发现对我们理解自闭症发病机制的意义,以及自闭症结构MRI研究的未来方向进行了讨论。
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Structural MRI in autism: Findings and future directions

Structural MRI studies of the brain in autism have yielded inconsistent results until recent years. Studies over the past decade have revealed several exciting new findings and have fostered novel hypotheses about the onset and etiology of this disorder. The most consistent MRI finding in autism is that the brain is enlarged. Studies have suggested that brain overgrowth may be most robust early in development, but increased brain volume has been observed throughout adolescence and early adult life. Retrospective head circumference studies have indicated that the onset of brain enlargement may occur during the latter part of the first year of life and does not appear to be present at birth. Recent studies of infant siblings of children with autism suggest that the onset of the core behavioral features of autism also occur during the latter part of the first year of life and may not be present by 6 months of age. The coincident timing of the onset of brain and behavioral abnormalities in autism suggests that these features may be related. Future longitudinal MRI studies of infant siblings of children with autism will help elucidate this relationship and potentially delineate the pathogenesis of this disorder. Additional findings from structural MRI studies of autism have begun to map patterns of brain overgrowth across cortical lobes and tissue types (gray and white matter). These studies are somewhat inconsistent, but suggest generalized overgrowth affecting both cortical gray and cortical white matter, as well as several subcortical structures. The diffuse network of regions affected has shifted research attention from hypotheses about specific regions and structures to more widespread mechanisms involving neural circuits and diffuse mechanisms at the neuronal level. These findings, their implications for our understanding of the pathogenesis of autism, and future directions for structural MRI studies of autism are discussed.

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