An exploratory study of neurostructural endophenotype among individuals with autistic disorder

研究背景孤独症（Autism）是一种神经发育障碍，其特征是试验性认知能力差，行为和兴趣模式刻板。有证据表明，遗传因素在孤独症的病因学中起着关键作用，同时，在大约三分之二的自闭症患者中，没有发现自闭症和交配障碍的家族史。另一方面，神经影像学研究表明。孤独症患者的大脑中存在结构性异常，这一点还有待确定，结构性异常是否与孤独症的家庭负担有关，或者，是什么。目的：1）结构异常是否与孤独症的诊断和孤独症家族史有关; 2）结构异常是否与孤独症的诊断和孤独症家族史有关; 3）结构异常是否与孤独症的诊断和孤独症家族史有关。 ...更多信息 在出生时就达到了高龄。方法Poulton药物初治的老年男性孤独症患者（平均年龄2，1.2SD1.1）和11名健康男性孤独症患者（平均年龄22.8SD1.6）参加本研究。诊断确认使用半结构化的采访，自闭症诊断：tic interview-Revised.自闭症的阳性家族史被定义为使得个体具有至少一个具有较小变体的一级亲属（自闭症障碍，由I 'iven等人定义）。艾尔1997）"，通过与参与者lb：Mt.：结构异常，我们对每个参与者进行了AIRIsam。使用统计学pmumetric mapping软件（SPM 2; hturftwfilion）进行图像的vosel-wise分析。测量的主要内容是总脑体积、总灰质体积、总白色物质体积、左和右海马体积和总脑体积，其中每一个都使用对照个体的总脑体积的平均值标准化。结果14例孤独症患者和11例正常对照者的最黑区均无体积差异。在14例孤独症患者中，有5例的父亲为Lesser变异，而对照组中没有发现父亲为Hisser变异。然后，我们比较了5名家族性孤独症患者（父亲有较小变异）、9名非家族性孤独症患者和11名对照者的平均感兴趣区域体积。对于左海马体积，患有家族性自闭症的个体显示出最高的平均值（2.76m1），对照个体Rcond（2.57ml），非适应性孤独症组最低（2.36毫升），虽然14名自闭症患者的父亲年龄稍高，但两组自闭症患者之间的差异具有显著性（32.0岁）高于对照组（31.4岁），但两组间无显著差异。结论左海马体积异常可能是家族性/非家族性孤独症的一个指标。少

Background Autism is a neurndevelopmental disorder characterized by poor trial cognition and, by restictod and stereotyped patterns of behavior and interests Evidence suggests that genetic factors play pivotal roles in the aetiology of autistic disorder, whilst. No family history of autistic and Mated disorders can he found in approximately 2 of 3 individuals with autism. On the other hand, nemoimaging studies have suggested that. Structural almonnalities are mnsistently found in brain of individuals with autistic disorder: Tb this point, it remains to be determined whether structuml abnormalities are connected with familial loading to autistic disorder, other-wile, what. Factors, particularly non-genetic litiors (e.g. advanced paternal age at birth), ming for such bruin abnormalities should be expload Objediues We examined 1) whether structural abnormalities rue related to diagnosis of autistic disorder and family history of autistic di: ander and 2) whether such abnormalities me rel … More ated to advanced paternal age at birth. Method Poulton drug-naive male subjects with autistic &senior (mean age 2,1.2 SD 1.1) and 11 healthy male wilutthers (mean age 22.8 SD 1.6) participated in this study. Diagnosis was confirmed using a semi-structured interview, the Autism Di: ann.: tic interview-Revised. Positive family history of autism was defined such that the individual has at least one first-degree relative with lesser variant (of autistic disorder, defined by I'iven, et. Al., 1997)", which was examined through an interview with at least one family member in addition to the participants lb: Mt.: structural abnormalities, we conducted a AIRIsam for each participant. The vosel-wise analyses of images were conducted using statistical pmumetric mapping software (SPM2; hturftwwfilion.uclacads main hi of the measurement were total brain vol tne, total gray matter volume, total white matter volume, left and right hippotnmpal volumes, and total cereballar volume, each of which was standardized using mean value of total brain volume of the control individuals. Results No volume dillerence was found in areas of inkiest between 14 individuals with autisticdisorder and 11 controls. Even alter age WAS adjusted for Among 14 individuals with autistic disorder 5 had the father with lesser variant, whereas no father with hisser variant was found in control group. Thenifine we comparad mean volume of areas of interest among 5 individual with familial autism (having a father with lesser variant), 9 individuals with non-familial autism, 11 control individuals. For left hippommpal volume, individuals with familial autistic disorder indicated the highest mean value (2.76m1), control individuals the Rcond (2.57ml), and the individuals with non-fitmilial autism the lowest (2.36ml), the dillbrence between two groups of autistic disorder being statisticallysignificant Althoughpaternal age wasslightlyhigher in 14 individuals with autism (32.0 yrs) than controls (31.4 yrs), no such difference was found between two groups of autistic disorder. Conslusion Abnormality in left hippocampal volume may be an indicator for familial/non-familial autistic disorder. Less