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Assessment and Management of Nutrition and Growth in Rett Syndrome

Leonard, Helen*; Ravikumara, Madhur; Baikie, Gordon; Naseem, Nusrat*; Ellaway, Carolyn§; Percy, Alan||; Abraham, Suzanne; Geerts, Suzanne||; Lane, Jane||; Jones, Mary#; Bathgate, Katherine*; Downs, Jenny*

Journal of Pediatric Gastroenterology and Nutrition: October 2013 - Volume 57 - Issue 4 - p 451–460
doi: 10.1097/MPG.0b013e31829e0b65
Original Articles: Hepatology and Nutrition

Objectives: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

*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.

Address correspondence and reprint requests to Helen Leonard, MB, ChB, PO Box 855, West Perth 6842, Australia (e-mail:

Received 30 November, 2012

Accepted 28 May, 2013

H.L. received funding from an NHMRC Senior Research Fellowship #572568. A.P., J.L., and S.G. receive research support from NIH (NCRR U54 RR019478, U54 HD06122) and the International Rett Syndrome Foundation. Funding for this project was provided by the Rett Syndrome Association, UK. The Australian Rett Syndrome program has been funded by the National Institutes of Health (5R01HD043100–05) and also the National Medical and Health Research Council (NHMRC) project grant #303189 for certain clinical aspects. The international Rett syndrome research program is funded by the International Rett Syndrome Foundation.

The authors report no conflicts of interest.

© 2013 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,