Leading Efforts in Advancing Neurodevelopmental Disorder Research: Walter E. Kaufmann, MD

WATCH TIME: 3 minutes

“It's very interesting that developing new measures, whether they are outcome measures, or simply new instruments, is not an easy task. The easy thing is to take something and to improve it in a particular way by eliminating what is not good or not so valuable. It’s much more difficult to add new things, but that can also be done and creating something completely the novel is a lot of work.”

The Rett Syndrome Behavioral Questionnaire (RSBQ), a caregiver-reported outcome measure composed of 45 items, was the first clinical end point to undergo validity testing for the condition nearly 2 decades ago. The questionnaire has been considered to be a well-balanced and sensitive metric by many as a caregiver-reported outcome for clinical trials. In the past decade, the RSBQ has been used as a primary or secondary outcome measure in more than 10 clinical trials and been proposed as a primary outcome measure in future trials.¹

For more context, the RSBQ is aimed to better identify behavioral problems among children with living Rett syndrome and over time, 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. Recently, Anavex Life Sciences 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.^2,3

Walter E. Kaufmann, MD, adjunct professor of human genetics at Emory University School of Medicine and chief science officer at Anavex, recently sat down in an interview with NeurologyLive®to discuss the paper and how patient communities can lead advancements in research. He also talked about the challenges when it comes to creating new research measures, according to his clinical perspective. In addition, Kaufmann spoke about why it is important to build upon existing research instruments, as mentioned in the research paper.

REFERENCES
1. Hou W, Bhattacharya U, Pradana WA, Tarquinio DC. Assessment of a Clinical Trial Metric for Rett Syndrome: Critical Analysis of the Rett Syndrome Behavioural Questionnaire. Pediatr Neurol. 2020;107:48-56. doi:10.1016/j.pediatrneurol.2020.01.009
2. 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 19, 2023. https://www.anavex.com/post/anavex-life-sciences-reports-publication-in-medical-journal-for-continued-commitment-to-improve-rsbq
3. 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