Nicole Tartaglia

Nicole Tartaglia, MD, Principal Investigator
University of Colorado
Tracy Stackhouse, MA, OTR, Principal Investigator
Developmental FX

FRAXA Awards:
  $35,000 in 2010

This collaborative project will be 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. This project, funded by FRAXA, enables us to study neuromotor outcome measures for use in clinical trials in FXS, and to contribute to a deeper understanding of the neuromotor issues involved in FXS.

by Tracy Stackhouse and Nicole Tartaglia, 4/2010

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 are currently no well-tested measures of neuromotor functioning that have been validated in the FX population for use in clinical trials. This study will evaluate a battery of neuromotor assessments in children and young adults age 5-39 with fragile X syndrome (FXS) to determine the feasibility, reliability (inter-rater and test-retest), and validity of these outcome measures in the FX population. Results will lead to recommendations for a battery of neuromotor assessments to be utilized for clinical trials in FXS.