一个单一中心的观察性研究,研究了结核性硬化综合体儿童的长期神经发育结果
D Mammadova1, J Vecko1, M Hofmann1
1Department of Pediatric and Adolescent Medicine, Pediatric Neurology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Loschgestr. 15, 91054, Erlangen, Germany.
Orphanet journal of rare diseases
|November 10, 2023
概括
儿童的结核性硬化综合体 (TSC) 通常会导致显著的神经和认知问题,特别是在早期发作的耐火性中. 早期干预和多学科护理对于管理TSC至关重要.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 发育儿科 发育儿科
背景情况:
- 结核性硬化综合体 (TSC) 是一种罕见的遗传疾病,影响多个器官系统.
- 超过90%的TSC患者出现神经或神经精神症状.
- 在TSC1或TSC2基因中的基因突变导致TSC.
研究的目的:
- 评估儿童TSC患者的长期发育和认知结果.
- 确定影响这些结果的因素.
主要方法:
- 小儿TSC患者的横截面,单中心研究.
- 使用标准化测试 (BSID,K-ABC) 分析神经表现和认知发展.
- 与患者年龄和突变类型相关的结果.
主要成果:
- 研究了35名儿科TSC患者,平均年龄为13.5岁.
- 常见的表现包括大脑病变 (91.4%), (85.7%) 和心脏肌瘤 (62.9%).
- 严重的认知障碍 (33.3%) 与类型和早期发作发作有关.
结论:
- 儿科TSC表现出显著的表型变异性和高的神经/神经精神疾病发病率.
- 早期发作的耐火性与较差的认知发育有关.
- 对所有TSC患者来说,多学科护理和早期干预是必不可少的.
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