Development of a Behavioral Outcome Measure for Rett Syndrome (IRSF #2804)

Behavioral abnormalities, ranging from autistic symptoms to anxiety and mood lability, are major clinical issues in Rett syndrome (RTT). In order to appropriately evaluate the efficacy of conventional or novel therapies targeting behavior in RTT, there is a need for reliable, valid, and sensitive outcome measures. Our overall aim/hypothesis is to create a broad-based behavioral outcome measure for use between the ages of 3-18 that will allow for:

1) standardized quantifications of behavioral outcomes in treatment trials

2) tracking developmental progress and behavioral changes over time. 

We consider this project to be funded by IRSF, and involving 350 RTT subjects with typical or atypical presentation and a MECP2 mutation, as a first phase focused on measure construction (Aim 1) and initial psychometric/reliability analyses (Aim 2). After a two-year period, we will apply to a federal agency for a second phase including an expanded psychometric analysis and validity and sensitivity analyses. At the end of award, and following appropriate factor analysis, an early version of the measure (i.e., RettBe) will be distributed to the RTT community.