*Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia †Department of Gastroenterology, Princess Margaret Hospital for Children, Perth ‡Department of Developmental Medicine, Royal Children's Hospital, Murdoch Children's Research Institute, Melbourne §Western Sydney Genetics Program, Children's Hospital at Westmead, Discipline of Paediatrics and Genetic Medicine, University of Sydney, Sydney, Australia ||Civitan International Research Centre, University of Alabama, Birmingham, AL ¶Department of Otolaryngology, Head Neck Surgery, and Radiology, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, NY #Katie's Clinic for Rett Syndrome, Children's Hospital & Research Center, Oakland, CA.
J Pediatr Gastroenterol Nutr. 2013 Oct;57(4):451-60. doi: 10.1097/MPG.0b013e31829e0b65.
We developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an expert panel of clinicians.
Initial draft recommendations were created based upon literature review and 34 open-ended questions in which the literature was lacking. Statements and questions were made available to an international, multidisciplinary panel of clinicians in an online format and a Microsoft Word-formatted version of the draft via e-mail. Input was sought using a 2-stage modified Delphi process to reach consensus. Items included clinical assessment of growth, anthropometry, feeding difficulties and management to increase energy intake, decrease feeding difficulties, and consideration of gastrostomy.
Agreement was achieved on 101 of 112 statements. A comprehensive approach to the management of poor growth in Rett syndrome is recommended that takes into account factors such as feeding difficulties and nutritional needs. A body mass index of approximately the 25th centile can be considered as a reasonable target in clinical practice. Gastrostomy is indicated for extremely poor growth, if there is risk of aspiration and if feeding times are prolonged.
These evidence- and consensus-based recommendations have the potential to improve care of nutrition and growth in a rare condition and stimulate research to improve the present limited evidence base.
我们通过文献回顾和临床医生专家小组的共识，为雷特综合征患者生长不良和体重增加的临床管理制定了建议。
根据文献综述和 34 个开放式问题（这些问题在文献中没有涉及），初步制定了建议草案。这些草案以在线格式和通过电子邮件以 Microsoft Word 格式向国际多学科临床医生小组提供。通过 2 阶段的改良 Delphi 过程征求意见以达成共识。项目包括生长、人体测量学、喂养困难的临床评估以及增加能量摄入、减少喂养困难的管理，以及考虑胃造口术。
在 112 个陈述中，达成了 101 个一致意见。建议采取综合方法来管理雷特综合征患者的生长不良，考虑到喂养困难和营养需求等因素。在临床实践中，将大约第 25 百分位的体重指数视为合理目标。如果存在吸入风险且喂养时间延长，则建议进行胃造口术。
这些基于证据和共识的建议有可能改善罕见疾病的营养和生长护理，并促进研究以改善目前有限的证据基础。
