Neuroanatomic variation in monozygotic twin pairs discordant for the narrow phenotype for autism
Neuroanatomic variation in monozygotic twin pairs discordant for the narrow phenotype for autism
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DOI：
10.1176/appi.ajp.161.3.539
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发表时间：
2004-03-01
影响因子：
17.7
通讯作者：
Pearlson, GD
中科院分区：
文献类型：
--
作者：
Kates, WR;Burnette, CP;Pearlson, GD
目的：更广泛的自闭症表型包括自闭症患者的亲属，他们表现出与自闭症患者相似的社交和语言缺陷，但不那么严重。在以前的自闭症不一致的同卵双胞胎研究中，超过75%的非自闭症双胞胎表现出更广泛的表型。不一致的单卵双胞胎之间的神经解剖学差异可能与狭窄和更广泛的行为表型有关。作者研究了双胞胎对临床表型的差异，在neuroanatomicappetituation.Method的差异的关系：受试者是16个同卵双胞胎对之间的年龄为5至14岁和16个匹配的单胎比较科目。七对双胞胎在临床上一致，九对双胞胎在临床上不一致，严格定义的自闭症。磁共振成像后，一个半自动化的程序被施加到图像中，脑组织被细分为神经功能区域和分割成灰色，白色，和心室compartments.Results：一致和不一致的双胞胎对表现出一致的大脑灰质和白色物质的体积。然而，只有临床一致的对表现出一致的小脑灰质和白色物质的体积。在不一致的双胞胎对，自闭症的双胞胎和他们的合作双胞胎表现出额叶，颞叶和枕叶白色物质的体积低于那些比较subjects.Conclusions：这些发现支持自闭症的遗传易感性的作用和限制。继续阐明自闭症谱系障碍的神经解剖学通路可以阐明自闭症的病因，并最终有助于治疗。
Objective: The broader autism phenotype includes relatives of individuals with autism who display social and language deficits that are qualitatively similar to those of autism but less severe. In previous studies of monozygotic twins discordant for autism, more than 75% of the twins without autism displayed the broader phenotype. Differences in neuroanatomy between discordant monozygotic twins might be associated with the narrow and broader behavioral phenotypes. The authors examined the relationship of twin pair differences in clinical phenotype to differences in neuroanatomic phenotype.Method: The subjects were 16 monozygotic twin pairs between the ages of 5 and 14 years and 16 matched singleton comparison subjects. Seven twin pairs were clinically concordant and nine twin pairs were clinically discordant for strictly defined autism. After magnetic resonance imaging, a semiautomated procedure was applied to images in which the brain tissue was subdivided into neurofunctional regions and segmented into gray, white, and ventricular compartments.Results: Both the concordant and discordant twin pairs exhibited concordance in cerebral gray and white matter volumes. However, only the clinically concordant pairs exhibited concordance in cerebellar gray and white matter volumes. within the discordant twin pairs, both the twins with autism and their co-twins exhibited frontal, temporal, and occipital white matter volumes that were lower than those of the comparison subjects.Conclusions: These findings support the role and the limits of genetic liability in autism. Continuing to clarify the neuroanatomic pathways in autistic spectrum disorders could illuminate the etiology of autism and, ultimately, contribute to treatments.