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胼胝体发育畸形:胼胝体发育的典型范例及伴有胼胝体受累的发育障碍疾病示例的综述。

Developmental malformation of the corpus callosum: a review of typical callosal development and examples of developmental disorders with callosal involvement.

机构信息

Division of Humanities and Social Sciences, California Institute of Technology, HSS 228-77, Caltech, Pasadena, CA, 91125, USA,

出版信息

J Neurodev Disord. 2011 Mar;3(1):3-27. doi: 10.1007/s11689-010-9059-y. Epub 2010 Sep 23.

DOI:10.1007/s11689-010-9059-y
PMID:21484594
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3163989/
Abstract

This review provides an overview of the involvement of the corpus callosum (CC) in a variety of developmental disorders that are currently defined exclusively by genetics, developmental insult, and/or behavior. I begin with a general review of CC development, connectivity, and function, followed by discussion of the research methods typically utilized to study the callosum. The bulk of the review concentrates on specific developmental disorders, beginning with agenesis of the corpus callosum (AgCC)-the only condition diagnosed exclusively by callosal anatomy. This is followed by a review of several genetic disorders that commonly result in social impairments and/or psychopathology similar to AgCC (neurofibromatosis-1, Turner syndrome, 22q11.2 deletion syndrome, Williams yndrome, and fragile X) and two forms of prenatal injury (premature birth, fetal alcohol syndrome) known to impact callosal development. Finally, I examine callosal involvement in several common developmental disorders defined exclusively by behavioral patterns (developmental language delay, dyslexia, attention-deficit hyperactive disorder, autism spectrum disorders, and Tourette syndrome).

摘要

这篇综述概述了胼胝体(CC)在各种目前仅通过遗传学、发育损伤和/或行为定义的发育障碍中的作用。我首先对 CC 的发育、连接和功能进行了一般性的回顾,然后讨论了通常用于研究胼胝体的研究方法。本综述的主要内容集中在特定的发育障碍上,首先介绍了胼胝体发育不全(AgCC)——这是唯一一种仅通过胼胝体解剖学诊断的疾病。接下来,我回顾了几种常见的遗传疾病,这些疾病通常会导致与 AgCC 相似的社交障碍和/或精神病理学(神经纤维瘤病 1 型、特纳综合征、22q11.2 缺失综合征、威廉姆斯综合征和脆性 X 综合征),以及两种已知会影响胼胝体发育的产前损伤(早产、胎儿酒精综合征)。最后,我研究了几种仅通过行为模式定义的常见发育障碍中的胼胝体参与情况(发育性语言延迟、阅读障碍、注意缺陷多动障碍、自闭症谱系障碍和妥瑞氏综合征)。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a88f/3163989/4a534844a673/11689_2010_9059_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a88f/3163989/83a3c51a998a/11689_2010_9059_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a88f/3163989/4a534844a673/11689_2010_9059_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a88f/3163989/83a3c51a998a/11689_2010_9059_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a88f/3163989/4a534844a673/11689_2010_9059_Fig2_HTML.jpg

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Behav Neurol. 1994;7(2):43-8. doi: 10.3233/BEN-1994-7201.
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White matter microstructure in 22q11 deletion syndrome: a pilot diffusion tensor imaging and voxel-based morphometry study of children and adolescents.22q11 缺失综合征的脑白质微观结构:对儿童和青少年的扩散张量成像和基于体素的形态计量学的初步研究。
J Neurodev Disord. 2010 Jun;2(2):77-92. doi: 10.1007/s11689-010-9043-6. Epub 2010 Mar 5.
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Social cognition in individuals with agenesis of the corpus callosum.
胼胝体压部病变:关于病因、临床表现、影像学特征及预后见解的综合研究
Neurol Sci. 2025 Jul 17. doi: 10.1007/s10072-025-08352-y.
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Intellectual ability and cortical homotopy development in children and adolescents.儿童和青少年的智力能力与皮质同伦发展
Dev Cogn Neurosci. 2025 Jul 9;75:101596. doi: 10.1016/j.dcn.2025.101596.
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Mapping Along-Tract White Matter Microstructural Differences in Autism.绘制自闭症患者长程白质微观结构差异图谱。
bioRxiv. 2025 Mar 24:2025.03.21.644498. doi: 10.1101/2025.03.21.644498.
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Binaural Fusion Sharpens on a Scale of Octaves During Pre-adolescence in Children with Normal Hearing, Hearing Aids, and Bimodal Cochlear Implants, but not Bilateral Cochlear Implants.在听力正常、佩戴助听器和双模式人工耳蜗植入的儿童中,双耳融合在青春期前以八度音阶的形式锐化,但双侧人工耳蜗植入的儿童则不然。
J Assoc Res Otolaryngol. 2025 Feb;26(1):93-109. doi: 10.1007/s10162-025-00975-4. Epub 2025 Feb 6.
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The corpus callosum in people with congenital adrenal hyperplasia (CAH).先天性肾上腺皮质增生症(CAH)患者的胼胝体。
Sci Rep. 2025 Feb 4;15(1):4206. doi: 10.1038/s41598-025-88870-z.
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J Clin Invest. 2024 Dec 31;135(5):e173493. doi: 10.1172/JCI173493.
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Behavioural indexes of callosal functioning in Williams syndrome.
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