Division of Clinical Pharmacology and Toxicology, Department of Medicine, University of Colorado Denver School of Medicine, 12700 East 19th Avenue, Campus Box C-237, Aurora, CO 80045, USA.
Exp Brain Res. 2011 Oct;214(3):381-91. doi: 10.1007/s00221-011-2834-5. Epub 2011 Aug 14.
Down syndrome (DS), the most common genetically defined cause of intellectual disability, is the phenotypic consequence of a supernumerary chromosome 21. Persons with DS commonly display deficits in visuomotor integration, motor coordination, and balance. Despite the key roles of the optokinetic and vestibular systems in these submodalities of motor function, a systematic investigation of the optokinetic nystagmus (OKN) and vestibulo-ocular reflex (VOR) in persons with DS had lacked in the literature. Accordingly, this study generated quantitative data on oculomotor function in persons with DS under optokinetic and sinusoidal smooth pursuit stimulation. Thirty-two participants with DS (14-36 years old, equally divided by gender) and 32 chronological age- and gender-matched typically developing controls were recruited from the community. Eye movements were recorded by binocular video oculography and an LCD projector produced visual stimulation. Assessments of the gain and frequency of slow phase of OKN beats and number and mean amplitude of intruding saccades during smooth pursuit were performed. Individuals with DS displayed angular velocity-dependent reduction in OKN gain and number of produced nystagmus beats compared to controls. The gain of the smooth pursuit was not significantly different between participants with DS and control participants. However, the number and mean amplitude of intruding saccades during smooth pursuit were increased in participants with DS compared to control participants. These findings may have implications to the understanding of the neurological basis of the motor dysfunction that affects performance in many practical tasks persons with DS encounter in their everyday lives.
唐氏综合征(Down syndrome,DS)是最常见的遗传性智力障碍病因,是额外的 21 号染色体引起的表型后果。唐氏综合征患者通常表现出视动整合、运动协调和平衡方面的缺陷。尽管眼动和前庭系统在这些运动功能的亚模式中起着关键作用,但在文献中缺乏对唐氏综合征患者的视动性眼球震颤(OKN)和前庭眼反射(VOR)的系统研究。因此,本研究在视动和正弦平滑追随刺激下,为唐氏综合征患者的眼动功能生成了定量数据。从社区中招募了 32 名唐氏综合征患者(14-36 岁,性别均等)和 32 名年龄和性别匹配的正常发育对照者。通过双眼视频眼动记录和液晶投影仪产生视觉刺激来记录眼动。评估了 OKN 拍动的增益和慢相频率以及平滑追随时侵入性眼跳的数量和平均幅度。与对照组相比,唐氏综合征患者的 OKN 增益和产生的眼跳次数随角速度的降低而降低。唐氏综合征患者和对照组参与者的平滑追随增益没有显著差异。然而,唐氏综合征患者在平滑追随期间侵入性眼跳的数量和平均幅度增加。这些发现可能对理解影响唐氏综合征患者在日常生活中遇到的许多实际任务表现的运动功能障碍的神经基础具有重要意义。