成年开始的尼曼-皮克型C1患者的吞特征
Beth I Solomon1, Andrea M Muñoz2, Ninet Sinaii3
1Speech-Language Pathology Section, Mark O. Hatfield Clinical Center, National Institutes of Health, Bethesda, MD, USA. Bsolomon@nih.gov.
Orphanet journal of rare diseases
|June 11, 2024
概括
成人发病的尼曼-皮克病C1型 (NPC1) 患者表现出功能性吞能力,吸食风险低,尽管有些人需要改变饮食. 定期的吞评估对于管理食障碍和预防成年NPC1人群的渴望至关重要.
科学领域:
- 神经学 神经学
- 溶酶体储存障碍 溶酶体储存障碍
- 吞障碍 吞障碍 吞障碍
背景情况:
- 尼曼-皮克病C1型 (NPC1) 是一种罕见的溶酶体疾病.
- 成人发病 (AO) NPC1呈现非特异性症状,往往导致诊断延迟.
- 缺食症是NPC1中常见的并发症,引发了对吸收风险的担忧.
研究的目的:
- 在成年开始的尼曼-皮克病类型C1.1中描述吞功能.
- 为了解决在AO NPC1.1.的消化障碍的理解和临床管理的差距.
- 评估AO NPC1患者的吸收风险和饮食修改的需要.
主要方法:
- 对14名AO NPC1个体进行前性自然史研究 (NCT00344331).
- 综合评估包括体检,视频光学吞研究和CSF生物标志物评估.
- 使用描述性统计,多变量建模,ASHA-NOMS和NIH-PAS进行分析.
主要成果:
- 队列 (平均年龄为43.1岁) 证明了独立吞,使用最少的提示.
- 57%的人没有明显的愿望风险;36%的风险很小.
- 50%的人需要改变饮食,特别是对于液体粘度 (43%).
结论:
- AO NPC1患者通常具有功能性吞,吸入风险较低.
- 定期的吞评估对于控制吞障碍和预防吸食障碍至关重要.
- 这些发现支持对AO NPC1失足症的评估和管理的临床建议.
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