The purpose of this research study is to gain a greater understanding of how the brains of children with Rett syndrome and related disorders process sensory information in comparison to children who are typically developing. The goal of this project is to test tools that may be used to measure the effectiveness of future treatments and play a role in both research and clinical trials.
Eligibility for Study Participation
We are currently recruiting individuals aged 2 months to 20 years old who have a clinical diagnosis of Rett syndrome, MECP2 Duplication, CDKL5, FOXG1, or who are typically developing and within the age range.
If you decide to participate in this study, which has a longitudinal design, it will involve 3 visits to the lab (once a year for three years)*. Visits to the lab may be coordinated with clinic visits here at Boston Children’s Hospital and will be scheduled at times that are convenient for you and your child. Visits will last approximately 2 hours and parents will be with their child at all times. *Participants with CDKL5 who decide to participate are asked to visit the lab for one additional study visit 6 months after the initial visit. As a result, CDKL5 participants and their families will visit the lab a total of 4 times over the course of 3 years.
LCNclinicalstudies@childrens.harvard.edu (Nelson Laboratory)
Currently, methods for measuring neural function in those with Rett syndrome and related disorders are limited. These methods are urgently needed so that researchers can learn more about how to treat these neurodevelopmental disorders. One method used to better understand how the brain functions in Rett syndrome and related disorders is through the use of an EEG (electroencephalogram). EEG and related tests record the activity of the brain at rest as well as in response to different stimuli. They measure how the brain processes sensory information through the use of a stretchy, non-invasive cap that collects electrical activity from the brain. Our goal is to gain greater information about how the brains of individuals with these syndromes process sensory information. These tools may be used as measures of treatment in clinical trials and to inform future research on these rare syndromes.