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.
Experience of gastrostomy using a quality care framework: The example of Rett syndrome
Downs, J., Wong, K., Ravikumara, M., Ellaway, C., Elliott, E. J., Christodoulou, J., Jacoby, P., & Leonard, H. (2014). Experience of gastrostomy using a quality care framework: The example of Rett syndrome. Medicine, 93(28), e328. Download snapshot, see article abstract.
Females with Rett syndrome often have feeding difficulties. We investigated our data from family questionnaires to see how feeding difficulties related to age, the type of MECP2 mutation, and the use of gastrostomy.
What we did
Questionnaire data for 229 families participating in the Australian Rett Syndrome Database were analysed to determine any relationships between feeding difficulties, age, and the type of mutation. We also looked back at factors that preceded gastrostomy and assessed growth following gastrostomy surgery. Parents' satisfaction following gastrostomy procedures was also evaluated.
What we found
Mutation type provided some explanation for feeding difficulties. Individuals with a milder clinical presentation, such as C-terminal deletions, were more likely to feed orally and less likely to experience feeding difficulties. In contrast, those with a mutation usually associated with a more severe clinical presentation, such as p.Arg168* and large deletions, were more likely to experience feeding difficulties and undergo gastrostomy.
Gastrostomy was utilised in approximately one quarter of the Australian Rett syndrome population and consistently resulted in weight gain. Among those, large deletions and p.Arg168* mutations were commonly represented. Most families were satisfied with the gastrostomy procedure. They reported improvements in their daughter's health and felt less anxiety and worry and less burden in relation to the daily care of their child.
What it means
Overall, gastrostomy helped to manage feeding difficulties and improve weight gain. It was also reported as being an acceptable procedure for families. Clinicians and families can use this information when deciding on the need and value of gastrostomy.
For further reports and findings, see our publications list.