Department of Medicine, The University of Melbourne , Parkville, VIC , Australia.
Front Hum Neurosci. 2013 Jul 25;7:417. doi: 10.3389/fnhum.2013.00417. eCollection 2013.
Autism spectrum disorder (ASD) patients commonly exhibit a variety of comorbid traits including seizures, anxiety, aggressive behavior, gastrointestinal problems, motor deficits, abnormal sensory processing, and sleep disturbances for which the cause is unknown. These features impact negatively on daily life and can exaggerate the effects of the core diagnostic traits (social communication deficits and repetitive behaviors). Studying endophenotypes relevant to both core and comorbid features of ASD in rodent models can provide insight into biological mechanisms underlying these disorders. Here we review the characterization of endophenotypes in a selection of environmental, genetic, and behavioral rodent models of ASD. In addition to exhibiting core ASD-like behaviors, each of these animal models display one or more endophenotypes relevant to comorbid features including altered sensory processing, seizure susceptibility, anxiety-like behavior, and disturbed motor functions, suggesting that these traits are indicators of altered biological pathways in ASD. However, the study of behaviors paralleling comorbid traits in animal models of ASD is an emerging field and further research is needed to assess altered gastrointestinal function, aggression, and disorders of sleep onset across models. Future studies should include investigation of these endophenotypes in order to advance our understanding of the etiology of this complex disorder.
自闭症谱系障碍(ASD)患者通常表现出多种共病特征,包括癫痫、焦虑、攻击性行为、胃肠道问题、运动缺陷、异常感觉处理和睡眠障碍,但病因不明。这些特征对日常生活有负面影响,并可能夸大核心诊断特征(社交沟通障碍和重复行为)的影响。在啮齿动物模型中研究与 ASD 的核心和共病特征都相关的内表型可以深入了解这些疾病的生物学机制。在这里,我们综述了环境、遗传和行为性 ASD 啮齿动物模型中内表型的特征。除了表现出核心 ASD 样行为外,这些动物模型中的每一种都表现出一种或多种与共病特征相关的内表型,包括感觉处理改变、易发性癫痫、类似焦虑的行为和运动功能障碍,这表明这些特征是 ASD 中改变的生物学途径的指标。然而,在 ASD 动物模型中研究与共病特征相平行的行为是一个新兴领域,需要进一步的研究来评估不同模型中的胃肠道功能改变、攻击性和睡眠起始障碍。未来的研究应该包括对内表型的研究,以推进我们对这种复杂疾病病因的理解。