Schizophrenia Research Institute, Darlinghurst, Australia ; Brain & Mind Research Institute, University of Sydney, Sydney, Australia ; Centre for Translational Neuroscience & Mental Health, University of Newcastle, Callaghan, Newcastle Australia.
Schizophrenia Research Institute, Darlinghurst, Australia ; Centre for Translational Neuroscience & Mental Health, University of Newcastle, Callaghan, Newcastle Australia ; School of Medicine & Public Health, University of Newcastle, Callaghan, Newcastle, Australia.
J Neurodev Disord. 2014;6(1):38. doi: 10.1186/1866-1955-6-38. Epub 2014 Sep 19.
22q11.2 deletion syndrome (22q11DS) is associated with a number of physical anomalies and neuropsychological deficits including impairments in executive and sensorimotor function. It is estimated that 25% of children with 22q11DS will develop schizophrenia and other psychotic disorders later in life. Evidence of genetic transmission of information processing deficits in schizophrenia suggests performance in 22q11DS individuals will enhance understanding of the neurobiological and genetic substrates associated with information processing. In this report, we examine information processing in 22q11DS using measures of startle eyeblink modification and antisaccade inhibition to explore similarities with schizophrenia and associations with neurocognitive performance.
Startle modification (passive and active tasks; 120- and 480-ms pre-pulse intervals) and antisaccade inhibition were measured in 25 individuals with genetically confirmed 22q11DS and 30 healthy control subjects.
Individuals with 22q11DS exhibited increased antisaccade error as well as some evidence (trend-level effect) of impaired sensorimotor gating during the active condition, suggesting a dysfunction in controlled attentional processing, rather than a pre-attentive dysfunction using this paradigm.
The findings from the present study show similarities with previous studies in clinical populations associated with 22q11DS such as schizophrenia that may indicate shared dysfunction of inhibition pathways in these groups.
22q11.2 缺失综合征（22q11DS）与多种身体异常和神经心理缺陷有关，包括执行功能和感觉运动功能障碍。据估计，22q11DS 患儿中有 25%会在以后的生活中发展为精神分裂症和其他精神病障碍。精神分裂症信息处理缺陷遗传传递的证据表明，22q11DS 个体的表现将增强对与信息处理相关的神经生物学和遗传基础的理解。在本报告中，我们使用眨眼反射修饰和反扫视抑制的测量来检查 22q11DS 中的信息处理，以探索与精神分裂症的相似性以及与神经认知表现的关联。
在 25 名经基因确认的 22q11DS 个体和 30 名健康对照者中测量了眨眼反射修饰（被动和主动任务；120 和 480 毫秒的预脉冲间隔）和反扫视抑制。
22q11DS 个体的反扫视错误增加，主动条件下的感觉运动门控也有一些证据（趋势水平效应）受损，这表明在这种范式中存在注意力控制处理功能障碍，而不是前注意功能障碍。
本研究的结果与以前与 22q11DS 相关的临床人群（如精神分裂症）的研究相似，这可能表明这些人群的抑制途径存在共同功能障碍。
