Rett UK supported Interrett to help develop this valuable booklet on Growth and Nutrition in Rett syndrome in 2013. The guidelines provide a summary of accepted best practice to help families, carers, and other professionals.
Dr Helen Leonard is the Senior Researcher and heads the Australian Rett Syndrome Study at the Telethon Institute for Child Health Research. With her team they have been responsible for The Development and Evaluation of Management Guidelines in the Areas of Nutrition and Growth. The guidelines aim to support clinical care and management and are based on a composite of evidence together with the researchers’ own observational data. The guidelines ensure that clinicians have the best possible information on best practice.
There is also an interesting paper by Jenny Downs (2014) about the experience of parents whose child has had a gastrostomy and relationships between differences in feeding difficulties experienced, by age groups and genotype. Those with large deletion mutations such as R168x and R270x were more likely to end up having gastrostomies. Link here to Key Research Papers.
In addition, there are two excellent resources from The Complex Child E Magazine, Gut Motility Problems in Children by Susan Agrawal and Functional Abdominal Pain and Visceral Hyperalgesia: Why does my tummy hurt so much? that you may find useful in relation to gut and digestion problems.
We have also been supporting some people recently who have had problems with gall stones and possibly gall bladder disease. Here is a useful paper that may shed some light on an area which is tricky to diagnose and treat.
Poor nutrition and reduced opportunities for weight bearing and walking can also lead to osteoporosis. Many thanks to Meir Lotan for sharing his presentation on Osteoporosis in RS