The Evolution of RSBQ as a Standard Measure for Rett Syndrome in Clinical Trials: Walter E. Kaufmann, MD

WATCH TIME: 10 minutes

"This paper is an open effort for the Rett syndrome community as it provides normative data and insights into potential improvements for the Rett Syndrome Behavior Questionnaire."

The Rett Syndrome Behavior Questionnaire (RSBQ), originally developed by a British team of clinicians and researchers, was designed to better identify behavioral problems among children with living Rett syndrome. Over the past 2 decades, the use of the measurement has expanded to observational studies in adults with Rett syndrome and other assessments for efficacy. The RSBQ, as a global outcome measure in clinical trials, includes questions not only for behaviors but also for behavior-related symptoms.

In recent news from Anavex Life Sciences, the company announced the publication of a peer-reviewed study in the American Journal on Intellectual and Developmental Disabilities in which researchers recommended some additional evaluations and improvements to the RSBQ.¹ In the study, authors evaluated the RSBQ's psychometric properties in 6 pediatric (n = 323) and 5 adult (n = 309) datasets. All told, Total and General Mood subscale scores had good reliability while clinical severity demonstrated no influence on RSBQ scores. Analyses for exploratory and confirmatory factors yielded 6 pediatric and 7 adult clinically relevant and psychometrically strong factors, including the original Breathing Problems and Fear/Anxiety subscales and the novel Emotional and Disruptive Behavior subscale.²

Recently, Walter E. Kaufmann, MD, adjunct professor of human genetics at Emory University School of Medicine and chief science officer at Anavex Life Sciences, sat down in an interview with NeurologyLive to discuss more about the motivations behind the research paper. He shared his perspective on how the RSBQ has evolved from its original purpose in identifying behavioral problems in Rett syndrome. He also talked about the reason why this assessment has become a crucial standard measure in Rett syndrome clinical trials investigating potential therapies for the disease. Additionally, Kaufmann spoke about the different resources and insights the research offers to the Rett syndrome research community as a whole.

REFERENCES
1. Anavex Life Sciences Reports Publication in Medical Journal Signifying Continued Commitment for Improvement of the Rett Syndrome Caregiver Outcome Measure RSBQ. News Release. Anavex Life Sciences. Published June 12, 2023. Accessed September 12, 2023. https://www.anavex.com/post/anavex-life-sciences-reports-publication-in-medical-journal-for-continued-commitment-to-improve-rsbq
2. Oberman LM, Leonard H, Downs J, et al. Rett Syndrome Behaviour Questionnaire in Children and Adults With Rett Syndrome: Psychometric Characterization and Revised Factor Structure. Am J Intellect Dev Disabil. 2023;128(3):237-253. doi:10.1352/1944-7558-128.3.237