Investigators: Helen Leonard, Jenny Downs, Kingsley Wong, Nan Hu, Nicholas de Klerk
Project description
We have completed a trial to assess the effects of a six-month intensive environmental enrichment program on gross motor skills, blood levels of the BDNF protein and other aspects of wellbeing in Rett syndrome. BDNF is a protein that assists with nerve function.
We recruited girls younger than 6 years of age whose family was registered with the InterRett database. The study was conducted at the Rett Syndrome Comprehensive Research Institute in Shenzhen China. At the beginning of the study, three girls could walk independently for 10 steps, four walked with assistance and three were unable to walk. After six months of treatment, the gross motor assessment scores increased on average by eight points on a 45-point scale. BDNF protein levels also increased. The child’s health and wellbeing remained constant across the course of the study.
The collaboration between members of the research team in Perth and China was extremely strong. The program was well received by the families and the girls appeared to be enjoying the activities. The last two weeks of the program was dedicated to ensuring that the parents had the skills and understanding for how they could encourage continuation of their daughter’s activities after the program ended. A manuscript describing this study has recently been published in Orphanet Journal of Rare Diseases which has open access.
External collaborators
- Jenny Rodger (University of Western Australia)
- Chen Li (Shenzhen Children's Hospital)
- Xuesong Tan (Rett Syndrome Comprehensive Research Institute)