Oddy Wendy H, Webb Kathryn G, Baikie Gordon, Thompson Susan M, Reilly Sheena, Fyfe Susan D, Young Deidra, Anderson Alison M, Leonard Helen
Centre for Child Health Research, University of Western Australia, Telethon Institute for Child Health Research, Perth, Australia.
J Pediatr Gastroenterol Nutr. 2007 Nov;45(5):582-90. doi: 10.1097/MPG.0b013e318073cbf7.
Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the factors affecting growth.
Using questionnaire data related to a population-based cohort, ages 2 to 29 years (n = 201), we measured the feeding experiences, growth, and factors affecting growth (enteral nutritional support, mutations, mobility, breath-holding, hyperventilation) in subjects with Rett syndrome.
The mean weight, height, and body mass index z scores in subjects with Rett syndrome were below that of their age group and decreased steadily with age. Twenty percent of subjects had enteral nutrition support, and it was more common in the older age group. Those with truncating mutations had significantly less enteral nutrition support than the other mutation groups. Furthermore, those with low mobility had lower mean body mass index z scores than those with higher mobility, and increased frequency of breath-holding and hyperventilation also was associated with lower body mass index z scores.
Routine monitoring of growth should continue to determine the severity of nutritional problems in Rett syndrome. Active nutritional management is recommended to ensure females affected with Rett syndrome have the best opportunity to reach their growth potential.
雷特综合征的喂养困难复杂且具有多因素性。在本研究中，我们描述了雷特综合征患者的喂养经历，并研究了影响生长的因素。
利用基于人群队列的问卷数据，研究对象年龄在2至29岁（n = 201），我们测量了雷特综合征患者的喂养经历、生长情况以及影响生长的因素（肠内营养支持、突变、活动能力、屏气、换气过度）。
雷特综合征患者的平均体重、身高和体重指数z评分低于其年龄组，且随年龄稳步下降。20%的患者接受肠内营养支持，在年龄较大的组中更为常见。与其他突变组相比，发生截短突变的患者接受肠内营养支持的比例显著更低。此外，活动能力低的患者平均体重指数z评分低于活动能力高的患者，屏气和换气过度频率增加也与较低的体重指数z评分相关。
应继续对生长情况进行常规监测，以确定雷特综合征营养问题的严重程度。建议采取积极的营养管理措施，以确保受雷特综合征影响的女性有最佳机会发挥其生长潜力。
