随着时间的推移",FEEDS (Feeding Eating Deglutition Skills) "研究对心肌皮质综合征进行了研究
Roberta Onesimo1, Elisabetta Sforza2, Valentina Giorgio1,2
1Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
患有心肌肌性综合征 (CFCS) 的食困难从婴儿期持续到成年期. 这项研究量化了这些挑战,突出了对患有CFCS的个体持续支持性护理的需要.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 胃肠病学 胃肠病学
背景情况:
- 心血管皮肤综合征 (CFCS) 与显著的养,进食和消困难有关.
- 这些挑战往往会影响从婴儿期到成年期的患者,需要全面的管理.
研究的目的:
- 量化CFCS患者从出生到成年期的养技能的发展轨迹.
- 为了确定特定的遗传突变和CFCS的养挑战之间的相关性.
主要方法:
- 预期招募27名CFCS患者 (年龄范围:1.5-38岁) 具有分子确诊的诊断.
- 评估口腔运动特征,腹 (流动率5),养能力 (I-MCH-FS) 和口腔感官处理 (感官概况).
主要成果:
- 25%的患者经历了轻度至大量的唾液流出.
- 在65%的婴儿中观察到食物口味的选择性,持续到青春期之后.
- 在19%的长期肠道食依赖患者中发现了BRAF,KRAS和MAP2K1突变.
结论:
- 在CFCS中,餐时间的挑战不仅仅局限于童年,还延伸到成年期.
- 持续的支持性护理对于在CFCS患者一生中管理食困难至关重要.
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