Mosconi Matthew W, Kay Margaret, D'Cruz Anna-Maria, Guter Stephen, Kapur Kush, Macmillan Carol, Stanford Lisa D, Sweeney John A
Center for Cognitive Medicine, University of Illinois at Chicago, Chicago, IL 60612, USA.
Arch Gen Psychiatry. 2010 Aug;67(8):830-40. doi: 10.1001/archgenpsychiatry.2010.87.
Studying sensorimotor and neurocognitive impairments in unaffected family members of individuals with autism may help identify familial pathophysiological mechanisms associated with the disorder.
To determine whether atypical sensorimotor or neurocognitive characteristics associated with autism are present in first-degree relatives of individuals with autism.
Case-control comparison of neurobehavioral functions.
University medical center.
Fifty-seven first-degree relatives of individuals with autism and 40 age-, sex-, and IQ-matched healthy control participants (aged 8-54 years).
Oculomotor tests of sensorimotor responses (saccades and smooth pursuit); procedural learning and response inhibition; neuropsychological tests of motor, memory, and executive functions; and psychological measures of social behavior, communication skills, and obsessive-compulsive behaviors.
On eye movement testing, family members demonstrated saccadic hypometria, reduced steady-state pursuit gain, and a higher rate of voluntary response inhibition errors relative to controls. They also showed lateralized deficits in procedural learning and open-loop pursuit gain (initial 100 milliseconds of pursuit) and increased variability in the accuracy of large-amplitude saccades that were confined to rightward movements. In neuropsychological studies, only executive functions were impaired relative to those of controls. Family members reported more communication abnormalities and obsessive-compulsive behaviors than controls. Deficits across oculomotor, neuropsychological, and psychological domains were relatively independent from one another.
Family members of individuals with autism demonstrate oculomotor abnormalities implicating pontocerebellar and frontostriatal circuits and left-lateralized alterations of frontotemporal circuitry and striatum. The left-lateralized alterations have not been identified in other neuropsychiatric disorders and are of interest given atypical brain lateralization and language development associated with the disorder. Similar oculomotor deficits have been reported in individuals with autism, suggesting that they may be familial and useful for studies of neurophysiological and genetic mechanisms in autism.
研究自闭症患者未受影响的家庭成员的感觉运动和神经认知障碍，可能有助于确定与该疾病相关的家族病理生理机制。
确定自闭症患者的一级亲属中是否存在与自闭症相关的非典型感觉运动或神经认知特征。
神经行为功能的病例对照比较。
大学医学中心。
57名自闭症患者的一级亲属和40名年龄、性别和智商匹配的健康对照参与者（年龄8 - 54岁）。
感觉运动反应的眼动测试（扫视和平稳跟踪）；程序学习和反应抑制；运动、记忆和执行功能的神经心理学测试；以及社会行为、沟通技巧和强迫行为的心理测量。
在眼动测试中，与对照组相比，家庭成员表现出扫视幅度减小、稳态跟踪增益降低以及自愿反应抑制错误率更高。他们还在程序学习和开环跟踪增益（跟踪的最初100毫秒）方面表现出偏侧化缺陷，并且仅限于向右运动的大幅度扫视准确性的变异性增加。在神经心理学研究中，相对于对照组，只有执行功能受损。家庭成员报告的沟通异常和强迫行为比对照组更多。眼动、神经心理学和心理领域的缺陷相对彼此独立。
自闭症患者的家庭成员表现出涉及脑桥小脑和额纹状体回路的眼动异常，以及额颞叶回路和纹状体的左侧化改变。左侧化改变在其他神经精神疾病中尚未被发现，鉴于与该疾病相关的非典型脑侧化和语言发育，这一点很值得关注。自闭症患者也有类似的眼动缺陷，表明它们可能是家族性的，并且对自闭症神经生理和遗传机制的研究有用。
