Rett Syndrome Research
Gillette is one of just 14 U.S. hospitals designated as a Clinical Research Center of Excellence by the Rett Syndrome Foundation. Because we believe that clinical research in Rett syndrome promotes the highest standards of care, we also join with researchers at the University of Minnesota to provide evidence-based medicine.
The goals of Rett syndrome research at Gillette are to:
- Inform optimal clinical management of patients who have Rett syndrome.
- Develop reliable, sensitive outcome measures for clinical trials.
Characterizing Autonomic Function in Rett Syndrome
Rett syndrome is often associated with autonomic dysfunction, such as hyperventilation, breath holding or cold hands and feet. Our goal is to improve scientific understanding of autonomic function in Rett syndrome to improve clinical care. Specific objectives include improving assessment by using non-invasive methods to measure autonomic nervous system function, response to environmental challenge, and whether response patterns change over time or are stable.
Led by Arthur Beisang, MD, Timothy Feyma, MD, Frank Symons, PhD, Breanne Byiers, PhD, and Chantel Burkitt, PhD.
Select ongoing studies:
- Infrared thermal analysis and autonomic function in Rett syndrome.
- Characterization of diurnal salivary cortisol in Rett syndrome.
- Assessing sleep patterns in Rett syndrome.
- Repeated measures assessment of the stability of physiological biomarkers in Rett syndrome including heart rate, breathing, and temperature of the hands and feet.
Characterizing Pain Experience and Sensory Function in Rett Syndrome
Rett syndrome is often associated with chronic health conditions that might cause pain or discomfort. We use noninvasive methods to document pain experience and somatosensory function. We are also investigating the underlying biology of sensory nerve innervation pathways. These studies provide clinically relevant information applicable to optimizing pain treatment and care of our patients who have Rett syndrome.
Led by Arthur Beisang, MD, Timothy Feyma, MD, Frank Symons, PhD, Breanne Byiers , PhD, and Chantel Burkitt, PhD.
Select Ongoing Studies:
- Characterizing pain experience and somatosensory function in Rett syndrome.
- Evaluating peripheral epidermal nerve fiber density in Rett syndrome.
- Assessing the function of pain pathways in Rett syndrome via heat-evoked potentials.
- Documenting inflammatory and anti-inflammatory biomarkers in the saliva of individuals with Rett syndrome.
- Peters, S. U., Byiers, B. J., & Symons, F. J. (2016) Diurnal salivary cortisol and regression status in MECP2 duplication syndrome. Journal of Child Neurology, 31(2), 159-63.
- Symons, F. J., Byiers, B., Hoch, J., Dimian, A., Barney, C., Feyma, T., & Beisang, A. (2015) Infrared thermal analysis and individual differences in skin temperature asymmetry in Rett Syndrome. Pediatric Neurology, 53(2), 169-72.
- Barney, C., Feyma, T. J., Beisang, A., & Symons, F. J. (2015). Pain experience and expression in Rett syndrome: Subjective and objective measurement approaches. Journal of Developmental and Physical Disabilities. DOI: 10.1007/s10882-015-9427-3.
- Simacek, J., Reichle, J., & McComas, J. J. (2016). Communication interventions to teach requesting through aided AAC for two learners with Rett syndrome. Journal of Developmental and Physical Disabilities. DOI: 10.1007/s10882-015-9423-7.
- Neul, J. L., Glaze, D. G., Percy, A. K., Feyma, T., Beisang, A., Dinh, T., . . . Jones, N. E. (2015). Improving treatment trial outcomes for rett syndrome: The development of rett-specific anchors for the clinical global impression scale. Journal of Child Neurology, 30(13), 1743-1748. doi:10.1177/0883073815579707 [doi].
- Julien, H. M., Parker-McGowan, Q., Byiers, B. J. & Reichle, J. (2014). Adult interpretations of communicative behavior in learners with Rett syndrome. Journal of Developmental and Physical Disabilities. Published online ahead of print.
- Byiers, B. J., Dimian, A., & Symons, F. J. (2014). Functional communication training in Rett syndrome: A preliminary study. American Journal of Intellectual and Developmental Disabilities, 119, 340-350.
- Quest, K., Byiers, B. J., Payen, A., & Symons, F. J. (2014). Rett syndrome: A preliminary analysis of stereotypy, stress, and negative Affect. Research in Developmental Disabilities, 35, 1191-1197.
- Byiers, B. J., Tervo, R. C., Feyma, T. J., & Symons, F. J. (2014). Seizures and pain uncertainty associated with parenting stress and Rett syndrome. Journal of Child Neurology, 4, 526-529.
- Byiers, B. & Symons, F. (2013). The need for unbiased cognitive assessment in Rett syndrome: Is eye tracking the answer? Developmental Medicine and Child Neurology, 301 - 302.
- Symons, F. , Byiers, B. , Tervo, R., & Beisang, A. (2013). Parent-reported pain in Rett syndrome. Clinical Journal of Pain, 29, 744-746.
- Byiers, B. J., Feyma, T.J., & Symons, F. J. (2013). Infrared Thermal Analysis and Autonomic Function in Rett Syndrome. Annals of Neurology, 74, S165-S165.
- Byiers, B. J., Reichle, J., & Symons, F. J. (2012). Single-subject experimental design for evidence-based practice. American Journal of Speech-Language Pathology, 21, 397-414.
- Byiers, B. J., & Symons, F. J. (2012). Issues in estimating developmental level and cognitive function in Rett syndrome. International Review of Research in Intellectual and Developmental Disabilities, 43, 147-185.