These resources include the best available evidence about the course of Rett syndrome and its management as well as practical information about family associations, specialist clinical centres and links to relevant websites.
Feeding experiences and growth status in a Rett syndrome population
Oddy WH, Webb KG, Baikie G, Thompson SM, Reilly S, Fyfe SD, Young D, Anderson AM, Leonard H. Feeding experiences and growth status in a Rett syndrome population. Journal of Pediatric Gastroenterology and Nutrition. 2007;45(5):582-90. Download snapshot, see article abstract.
Due to a variety of factors girls and women with Rett syndrome often have feeding difficulties and inadequate growth.
What did we do
We set out to describe the feeding difficulties and nutritional status of girls with Rett syndrome and to examine what factors may be influencing their nutritional status .
Information from the 2004 Australian Rett Syndrome Study family questionnaire was used for this study. The girls and women in this study were aged between 2 and 29 years old. We collected information on feeding methods, food textures, mealtime behaviours, and parents estimated how their daughter's intake of food and liquid over a day compared with expected intake. We also collected information on other factors that might influence their growth such as the presence of epilepsy, scoliosis, breathing difficulties or constipation. We used the girls' height and weight to calculate their body mass index.
What we found
Overall, the girls' and women's height, weight and body mass index were much lower than the general population, especially for the older girls and adults. About one in five girls and women had gastrostomy (PEG) feeding. Parents of girls who were not tube-fed were often happy with the amount of food that their daughter ate but were concerned about her taking enough fluids. On average, mealtimes took about 24 minutes with the longest mealtime taking about 2 hours. Many of the girls who were not tube-fed had problems with eating and needed their food to be specially prepared (either pureed, mashed or chopped) before they could eat it. Girls who were less mobile overall had lower body mass index than those who were mobile. An increased frequency of breath-holding and hyperventilation was also associated with a lower body mass index. We found that those with late-truncating mutations, particularly those with C-terminal deletions had the highest weight and body mass index for their age.
Tube-feeding was more common in girls with an early truncating mutation, p.255X or p.T158M mutation. We found that those with known milder mutations such as p.R294X and p.R306C as well as the C-terminal deletions, were less likely to be tube-fed.
What does it mean
Overall, girls with Rett syndrome are generally shorter and lighter than their peers. We also noticed that girls who were less mobile had a lower BMI score for their age, which is surprising because one might expect that these girls would expend less energy. This means that there are likely to be other factors affecting energy expenditure. Routine monitoring of growth is important for adequately managing the nutritional problems in Rett syndrome and ensuring every girl has the best opportunity to reach her growth potential.