• Janet Sugarman Isaacs, Marianne Murdock, Jane Lane, and Alan K Percy.
• Children's National Medical Center, Department of Genetics and Metabolism, Washington, DC, USA. Jisaacs@cnmc.org
• J Am Diet Assoc. 2003 Feb 1; 103 (2): 224-30.

AbstractRett 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.

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