Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Cleveland Clinic Lerner College of Medicine, Cleveland, Ohio, USA.
J Inherit Metab Dis. 2021 Jul;44(4):871-878. doi: 10.1002/jimd.12376. Epub 2021 Mar 23.
Classic galactosemia (CG) is a rare inborn error of metabolism that results from profound deficiency of galactose-1-P uridylyltransferase (GALT). Despite early detection and rapid and lifelong dietary restriction of galactose, which is the current standard of care, most patients grow to experience a broad range of complications that can include motor difficulties. The goal of this study was to characterize hand fine motor control deficit among children and adults with classic galactosemia (CG). Specifically, we used Neuroglyphics software to collect digital Archimedes spiral drawings on a touch screen from 57 volunteers with CG (cases) and 80 controls. Hand fine motor control was scored as root mean square (RMS) of spirals drawn relative to an idealized template. Presence of tremor was defined as a peak in periodicity of changes in drawing speed or direction in the 4-8 Hz range. We observed a highly significant difference (P < .001) in RMS scores between cases and controls, with almost 51% of cases showing at least 1 of 4 spirals scoring outside the 95th percentile for controls. The corresponding prevalence for controls was 10%. Similarly, more than 35% of cases, and almost 14% of controls, showed at least 1 of 4 spirals with a tremor amplitude above the 95th % cutoff for controls. Our results both confirm and extend what is known about hand fine motor control deficit among children and adults with CG and establish digital assessment as a useful approach to quantify this outcome.
经典半乳糖血症（CG）是一种罕见的先天性代谢缺陷病，由半乳糖-1-磷酸尿苷酰转移酶（GALT）严重缺乏引起。尽管目前的标准治疗是早期发现和快速且终生限制半乳糖（即乳糖）的摄入，但大多数患者仍会经历广泛的并发症，包括运动困难。本研究的目的是描述经典半乳糖血症（CG）患儿和成人的手部精细运动控制缺陷。具体来说，我们使用 Neuroglyphics 软件从 57 名 CG 志愿者（病例）和 80 名对照者收集了在触摸屏上绘制的数字阿基米德螺旋图。通过将绘制的螺旋与理想模板进行比较，对手部精细运动控制进行评分，作为均方根（RMS）。震颤的存在定义为绘图速度或方向在 4-8 Hz 范围内周期性变化的峰值。我们观察到病例和对照组之间 RMS 评分存在显著差异（P<0.001），几乎 51%的病例有 4 个螺旋中的至少 1 个评分低于对照组的第 95 百分位。对照组的相应患病率为 10%。同样，超过 35%的病例和几乎 14%的对照组有 4 个螺旋中的至少 1 个显示出震颤幅度高于对照组第 95%分位的截断值。我们的结果既证实了又扩展了已知的 CG 患儿和成人手部精细运动控制缺陷，并确立了数字评估作为量化这一结果的有用方法。
