Transformation of Rett Syndrome Research With the Emergence of Adult Data: Walter E. Kaufmann, MD
The adjunct professor of human genetics at Emory University School of Medicine discussed previous research on Rett syndrome that initially provided crucial insight on the neuromuscular condition in adult populations. [WATCH TIME: 2 minutes]
WATCH TIME: 2 minutes
"It's an exemplary instance of international collaboration. In the realm of rare diseases, such partnerships are indispensable. Even in a country as capable as the United States, where conducting a study independently may be feasible, the benefits of collaborating with other nations for rare diseases are paramount. This collaboration facilitates access to crucial data, emphasizing the pivotal role of sharing information in advancing research."
Rett syndrome is characterized by physical features such as the loss of hand skills, deceleration of head growth, spasticity, and scoliosis, as well as various behavioral features, including hand stereotypies, hyperventilation, and breath holding. The Rett Syndrome Behavior Questionnaire (RSBQ), a novel checklist of characteristic Rett syndrome behavioral and emotional features, was developed to test the type and specificity of behavioral features of Rett syndrome.1 Since its development, the RSBQ has expanded as an assessment measurement for adults with Rett syndrome in observational studies and additional clinical trials for potential treatments.
In a recent peer-reviewed study published in the American Journal on Intellectual and Developmental Disabilities, researchers recommended some additional evaluations and improvements to the RSBQ.2 The study, representing the largest analysis on the RSBQ and the first report of the instrument in adults with Rett Syndrome, was produced with an international collaboration including anonymized databases from the United States, Australia, United Kingdom, and Denmark. Conducted by senior author Walter E. Kaufmann, MD, and colleagues, the final goal of the analysis was to give reference values and other metrics of the RSBQ for its clinical application and implementation in studies.3
Kaufmann, an adjunct professor of human genetics at Emory University School of Medicine, recently sat down in an interview with NeurologyLive to discuss how the RSBQ was studied historically in previous research in relation to the recent paper. He talked about how the prior study on Rett syndrome challenged the prevailing notion of the disorder being predominantly pediatric. He also spoke about how the improved life expectancy of individuals with Rett syndrome altered the landscape of neurodevelopmental disorder research. In addition, Kaufmann, also the chief science officer at Anavex Life Sciences, explained how international collaboration plays a crucial role in advancing the understanding of rare diseases like Rett syndrome, as demonstrated by the recent study.
