Courchesne E, Saitoh O, Yeung-Courchesne R, Press G A, Lincoln A J, Haas R H, Schreibman L
Neurosciences Department, School of Medicine, University of California at San Diego, La Jolla 92093.
AJR Am J Roentgenol. 1994 Jan;162(1):123-30. doi: 10.2214/ajr.162.1.8273650.
Infantile autism is a neurobehavioral disorder that is widely believed to have etiologically distinct subtypes, including subtypes with a genetic basis, but no neuroanatomic evidence firmly supports this belief. To date, only one type of cerebellar abnormality has been identified in patients with autism: hypoplasia of the vermis and hemispheres. By using a large sample of autistic patients and healthy volunteers along with precise MR imaging and quantitative procedures, we sought to replicate previous reports of cerebellar vermian hypoplasia in autism and to identify additional subtypes of cerebellar abnormality.
Using MR technology, we imaged and measured posterior and anterior vermian regions in 50 autistic patients (2-40 years old) and 53 healthy control subjects (3-37 years old). The autistic patients had social, language, cognitive, behavioral, and medical history characteristics that were typical of the general autistic population. By using precise procedures for positioning and aligning MR slices, we obtained comparable MR images within and across subject groups.
Statistical analyses showed two subgroups of autistic patients, one (86% of the patients) with findings consistent with vermian hypoplasia and another (12% of the patients) with evidence of vermian hyperplasia. The hypoplasia subgroup included 43 patients whose mean midsagittal area for vermian lobules VI and VII was 237 +/- 38 mm2, and the hyperplasia subgroup included six patients whose mean area was 377 +/- 12 mm2. Thus, the area of lobules VI and VII in the hypoplasia subgroup was 16% smaller than the mean area in the control subjects (282 +/- 42 mm2) (p < .0001), whereas that in the hyperplasia subgroup was 34% larger (p < .0001). Analyses showed that these two subtypes of vermian abnormalities were present across all ages of autistic patients studied.
Two different subtypes of autistic patients can be identified on the basis of the presence of vermian hypoplasia or hyperplasia as seen on MR images. Possible origins for vermian hypoplasia include environmental trauma and genetic factors.
婴儿自闭症是一种神经行为障碍，人们普遍认为它在病因上有不同的亚型，包括具有遗传基础的亚型，但尚无神经解剖学证据能有力支持这一观点。迄今为止，在自闭症患者中仅发现一种小脑异常类型：蚓部和半球发育不全。我们通过使用大量自闭症患者样本和健康志愿者，结合精确的磁共振成像（MR）及定量程序，试图重现先前关于自闭症患者小脑蚓部发育不全的报道，并确定小脑异常的其他亚型。
我们利用MR技术，对50名自闭症患者（年龄在2至40岁之间）和53名健康对照者（年龄在3至37岁之间）的小脑蚓部前后区域进行成像和测量。这些自闭症患者具有一般自闭症群体典型的社交、语言、认知、行为及病史特征。通过使用精确的程序来定位和对齐MR切片，我们在不同受试者组内及组间获得了可比的MR图像。
统计分析显示自闭症患者分为两个亚组，一组（占患者的86%）的表现与蚓部发育不全一致，另一组（占患者的12%）有蚓部增生的证据。发育不全亚组包括43名患者，其蚓部小叶VI和VII的平均矢状中面积为237±38平方毫米，增生亚组包括6名患者，其平均面积为377±12平方毫米。因此，发育不全亚组中小叶VI和VII的面积比对照组的平均面积（282±42平方毫米）小16%（p <.0001），而增生亚组的面积比对照组大34%（p <.0001）。分析表明，这两种蚓部异常亚型在所有研究的自闭症患者年龄组中均存在。
根据MR图像上显示的蚓部发育不全或增生情况，可以识别出两种不同亚型的自闭症患者。蚓部发育不全的可能成因包括环境创伤和遗传因素。
