None listed
Conditions
Brief summary
Girls with Rett syndrome have difficulties performing motor skills. Animal studies have found that the mice with a MECP2 mutation develop better motor skills if their environment is enriched, possibly due to the extra physical activity which then increases production of Brain Derived Neurotrophic Factor (BDNF). BDNF is an important protein for nerve cell growth and maturity. For Rett syndrome, therapies should be more effective if implemented intensively at an early age due not only to inherent brain plasticity and capacity to learn but also potentially due to stimulation of BDNF production. We know that girls with Rett syndrome can learn new skills with training and practice. However, available research studies have involved small numbers of girls with no comparison group or period and we do not know the precise benefits of intensive early intervention in Rett syndrome. This study involves collaboration between researchers and clinicians in Australia and China. Our study will recruit approximately 12 girls younger than 6 years and assess the girls during a period with no intervention and then during an eight to nine month period with environmental enrichment. We will assess motor function, sleep, behaviour, constipation and serum levels of BDNF. Our study will determine the evidence base for intensive environmental enrichment for young girls newly diagnosed with Rett syndrome giving clearer guidance for both clinicians and families
Interventions
Each child will be assessed over a baseline period prior to the intervention period. The length of baseline will be determined randomly and will be either 1, 2 or 3 months. Assessments during baseline will be monthly and there will be 2, 3 and 4 assessments for those with a 1, 2 and 3 month baseline period respectively.
The treatment program will be conducted in a therapy centre in Shenzhen, China and will include multiple supported activities within a rich sensori-motor environment and the spec
Each child will be assessed over a baseline period prior to the intervention period. The length of baseline will be determined randomly and will be either 1, 2 or 3 months. Assessments during baseline will be monthly and there will be 2, 3 and 4 assessments for those with a 1, 2 and 3 month baseline period respectively. The treatment program will be conducted in a therapy centre in Shenzhen, China and will include multiple supported activities within a rich sensori-motor environment and the specific activities used will target individual goals in the development of motor skills. The activities will be characterised by a high volume of practice and physical activity, and biologically, will aim to increase production of Brain Derived Neurotrophic Factor (BDNF). The program’s design is also consistent with Motor Learning Theory, including opportunities for practice, intrinsic and extrinsic feedback, judicious use of rest periods, and performance of tasks in a variety of conditions that provide choice, are developmentally engaging and provide opportunities for cognitive learning. For example, tasks will include a range of motor activities such as transitions, standing and walking and each child will be encouraged to build both skill and endurance. The intervention will be conducted for 2 to 3 hours each morning on five days a week. This will continue over a 6 month period. Sessions will be conducted in small groups. During the therapy sessions, one-on-one supervision will be provided by the physiotherapist. The therapist will record a log of attendance, duration of sessions and the activities practiced. Each therapist-child dyad will work within a small group with one to two other therapist-child dyads to provide additional social stimulation during the treatment sessions.
Sponsors
Telethon Kids Institute
Study design
Allocation
Randomised controlled trial
Intervention model
Other
Primary purpose
Treatment
Masking
Open (masking not used)
Eligibility
Sex/Gender
All
Age
2 Years to 6 Years
Healthy volunteers
No
Inclusion criteria
The child will have genetically confirmed Rett syndrome and will be aged between two and six years. Over the previous 12 months, the child will have received no therapy or very low doses of therapy that is less frequent than fortnightly.
Exclusion criteria
The child is older than six years and has been participating in an intensive therapy program over the previous 12 months.
Outcome results
None listed