长期跟踪神经认知功能在患者的氨酸缺乏和胆固醇衰竭
Meng-Ju Melody Tsai1,2, Jung-Chi Chang3,4, Heng-Yu Lu5
1Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan.
Clinical and experimental pediatrics
|November 28, 2024
概括
素缺乏症是一种罕见的代谢障碍,可以导致儿童注意力缺陷/多动症 (ADHD) 的发病率更高. 然而,长期的神经认知结果通常是正常的,尽管早期的代谢障碍.
科学领域:
- 遗传学和罕见疾病.
- 神经发育障碍 神经发育障碍
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 素缺乏症是一种罕见的代谢障碍,影响肝脏或神经功能,在东亚/东南亚普遍存在.
- 早期诊断和管理可以改善婴儿的预后,但长期的神经认知数据有限.
研究的目的:
- 为了确定在氨酸缺乏的短暂的早期儿童代谢障碍是否具有持久的神经认知影响.
- 为了研究长期的神经认知结果,在个人与素缺乏.
主要方法:
- 对30名在1岁之前被诊断为氨酸缺乏症的患者进行了神经心理评估 (ADHD,智商).
- 婴儿峰值实验室值在后来被诊断患有多动症和没有多动症的儿童之间进行了比较.
主要成果:
- 全面智商得分在队列 (3-25岁) 中正常分布.
- 47%的人被诊断患有多动症,比一般人群的患病率更高.
- 婴儿氨水平的增加与过度活跃-冲动性症状的可能性更高相关.
结论:
- 由于素缺乏的婴儿胆固醇症与ADHD发病率的增加有关.
- 早期的代谢障碍可能会对素缺乏的神经认知功能产生负面影响.
- 尽管有潜在的影响,但长期随访表明整体神经认知障碍最小,允许正常生活.
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