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与其他发育障碍相比,雷特综合征女童的进食困难。

Eating difficulties in girls with Rett syndrome compared with other developmental disabilities.

作者信息

Isaacs Janet Sugarman, Murdock Marianne, Lane Jane, Percy Alan K

机构信息

Children's National Medical Center, Department of Genetics and Metabolism, Washington, DC, USA.

出版信息

J Am Diet Assoc. 2003 Feb;103(2):224-30. doi: 10.1053/jada.2003.50026.

Abstract

Rett syndrome arises from a mutation on the X chromosome and occurs with prevalence in the general population in 1:10,000 women. Its major nutritional consequences require that health providers recognize early signs of eating difficulties and slowing of growth parameters. Retrospective record review of 44 girls, in two equal-sized groups matched by age, showed that the Rett syndrome group was significantly different, with lower body weights, more respiratory difficulties, more gastrointestinal symptoms interfering with eating, more swallowing problems, less self-feeding, and lower texture tolerance for chewy and crunchy foods compared with the developmental disability group. Microcephaly was noted for half of the Rett syndrome group compared with seven in the developmental disability group. Parents expressed concern about their child's difficulties in eating; eight of the Rett syndrome girls and 13 of the girls in the developmental disability group were reported to have a poor appetite. Distinctive features of Rett syndrome consistent with those in the literature were documented reasonably well in the nutrition assessment records. Detailed food intake information was analyzed for food texture characteristics to recognize early eating and texture tolerance problems. Recommendations were offered for conducting a thorough nutrition assessment of Rett syndrome patients, including analysis of the texture of consumed foods. Additional recommendations for improving nutrition services to those with Rett syndrome and other developmental disabilities include ruling out microcephaly, early identification of eating difficulties, with modifications in food texture as appropriate, and self-feeding goals.

摘要

瑞特综合征由X染色体突变引起,在普通人群中的患病率为1:10000女性。其主要的营养后果要求医疗服务提供者识别进食困难和生长参数减缓的早期迹象。对44名女孩进行回顾性病历审查,将她们分为两个年龄匹配的同等规模小组,结果显示,与发育障碍组相比,瑞特综合征组存在显著差异,体重更低、呼吸困难更多、有更多影响进食的胃肠道症状、吞咽问题更多、自主进食更少,对耐嚼和脆的食物的质地耐受性更低。瑞特综合征组有一半出现小头畸形,而发育障碍组有7例。家长们对孩子的进食困难表示担忧;据报告,瑞特综合征组有8名女孩和发育障碍组有13名女孩食欲不佳。在营养评估记录中相当充分地记录了与文献中一致的瑞特综合征的显著特征。分析详细的食物摄入信息的食物质地特征,以识别早期的进食和质地耐受性问题。针对瑞特综合征患者进行全面营养评估提出了建议,包括分析所食用食物的质地。改善对瑞特综合征和其他发育障碍患者营养服务的其他建议包括排除小头畸形、早期识别进食困难、适当调整食物质地以及设定自主进食目标。

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