Neuromotor Outcome Measures for Clinical Trials in Fragile X Syndrome

With a $35,000 grant from FRAXA Research Foundation in 2011, Dr. Nicole Tartaglia and Tracey Stackhouse aimed to develop neuromotor outcome measures for use in clinical trials in FXS.

$35,000 Grant
Nicole Tartaglia, MD
Principal Investigator
$35,000 Grant
Tracey Stackhouse, MA, OTR
Co-Principal Investigator
University of Colorado Denver
2010 FRAXA Research Grant

Neuromotor Outcome Measures in Fragile X Syndrome

This collaborative project was completed at the two sites of the Colorado Fragile X Clinic: The Children’s Hospital and Developmental FX. Dr. Nicole Tartaglia is the Medical Director of the Fragile X Clinic at The Children’s Hospital of Denver. Tracy Murnan Stackhouse, MA, OTR is the co-founder of the Developmental & Fragile X Resource Centre (Developmental FX), a clinic specializing in Fragile X.

With the promise of targeted treatments leading to improved outcomes in Fragile X syndrome (FXS), there is a critical need to identify outcome measures for use in clinical trials. Neuromotor deficits are an important part of the early presentation and ongoing deficits requiring treatment in FXS, yet there were no well-tested measures of neuromotor functioning that had been validated in the FX population.

Specific Aims: The primary aim of this project was to identify neuromotor outcome measures for use in clinical trials in FXS, and to examine feasibility, reliability (inter-rater and test-retest) and validity of neuromotor outcome measures.

Methods: The study was divided into two phases. In Phase I, a large battery of neuromotor outcome measures were administered to subjects with FXS to determine feasibility and validity of the measures. In Phase II (Visit 2 and 3), the battery of measures was consolidated into a shorter 30-45 minute battery for evaluation of test-retest and inter-rater reliability.

Results: Results to date on a sample of 15 male and female participants with FXS of a broad age range with wide variability of cognitive abilities and behavioral manifestations of FXS were first analyzed for feasibility to refine the battery to outcome measures that could be utilized across the sample. To determine feasibility, test data was analyzed at the item level for floor effects, ability to complete an item and refusal to attempt the task. Based on these factors, we chose the items retained for the Phase 2 battery. Preliminary analysis has revealed no significant relationships between testing site, examiner, autism symptoms, or IQ with feasibility. Preliminary convergent and divergent validity of items were evaluated.

Neuromotor Outcome Measures for Clinical Trials in FXS: Strategies and Supports for Success

Within the scope of our broader project to evaluate a variety of neuromotor measures for use in clinical trails for targeted treatments in Fragile X syndrome, we were able to document a range of supports and accommodations that can make testing individuals with FXS more successful. Testing people with FXS requires specific accommodations and supports that should be used to allow for participation by children and adults across the range of functioning, as well as to obtain accurate results. The majority of research with individuals with FXS has tended to include those that have adaptive, language or cognitive skills that allow for ease of testing. As the targeted treatments will need to be evaluated across the spectrum of functioning in FXS, it is critical to establish best practice methods for including individuals who are most affected by the syndrome. This poster will share insights garnered from the neuromotor assessment project which included some individuals who had previously been considered “too difficult to test”. Establishing an evidence base for best practice in testing will enhance research and further the aim of advancing understanding of FXS including the efficacy of targeted treatments in FXS.

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