Departments of Neurosciences and Pediatrics, UC San Diego School of Medicine, and Rady Children's Hospital, San Diego, California.
J Inherit Metab Dis. 2019 May;42(3):545-552. doi: 10.1002/jimd.12062. Epub 2019 Feb 19.
Previous studies have shown that individuals with cystinosis may exhibit difficulty with visuospatial tasks. Global and local (hierarchical) processing are specific types of visuospatial tasks mediated by the right and left parietal lobes respectively. The study objective was to determine whether individuals with cystinosis and carriers of the cystinosin gene mutation show deficits in global and/or local processing. The study included 48 children (32 controls, 16 cystinosis) and 56 adults (25 controls, 25 carriers, and 6 cystinosis). Participants were instructed to replicate 10 hierarchical stimuli to assess global-local processing. The primary outcome measure was mean global and local performance on the hierarchical stimuli task between subgroups. Error subtypes were included to further assess each image. Compared to the control subgroups, adult and child cystinosis patients as well adult carriers demonstrated significant deficits in the global processing of a hierarchical stimulus against a background of unimpaired local processing. Child cystinosis patients performed significantly more poorly than controls on all error subtypes except local shape distortion. Adult cystinosis patients and carriers made significantly more global shape distortion errors than the controls. Our study shows that the cognitive profile documented in cystinosis patients and carriers includes significant difficulties with the global processing of an image. Results of the carrier population are important since they suggest that the cognitive impairments observed in patients cannot be attributed to symptomatic manifestations of the disease. Instead, the global processing deficits observed provide insight into the potential role of the cystinosin gene mutation on neurodevelopmental differences seen in these individuals.
先前的研究表明，胱氨酸病患者可能在视空间任务上存在困难。全局和局部（层次）处理分别是由左右顶叶介导的特定类型的视空间任务。本研究的目的是确定胱氨酸病患者和胱氨酸基因突变携带者是否存在全局和/或局部处理缺陷。研究包括 48 名儿童（32 名对照，16 名胱氨酸病）和 56 名成年人（25 名对照，25 名携带者，6 名胱氨酸病）。参与者被指示复制 10 个层次刺激来评估全局-局部处理。主要的结果测量是在层次刺激任务中，亚组之间的平均全局和局部表现。错误亚型被包括在内，以进一步评估每个图像。与对照组相比，成年和儿童胱氨酸病患者以及成年携带者在背景不受干扰的局部处理下，对层次刺激的全局处理存在明显缺陷。儿童胱氨酸病患者在除局部形状变形外的所有错误亚型上的表现明显差于对照组。成年胱氨酸病患者和携带者的全局形状变形错误明显多于对照组。我们的研究表明，在胱氨酸病患者和携带者中记录的认知特征包括对图像的全局处理存在明显困难。携带者人群的结果很重要，因为它们表明在患者中观察到的认知障碍不能归因于疾病的症状表现。相反，观察到的全局处理缺陷提供了对胱氨酸基因突变在这些个体中所见的神经发育差异的潜在作用的深入了解。
