Identifying and Managing Emotional, Behavioural Autonomic Dysregulation in Rett Syndrome (Hungarian)

In this talk, Paramala Santosh will present information about the Centre for Interventional Paediatric Psychopharmacology and Rare Diseases (CIPPRD) and their work with people with Rett syndrome, especially focusing on Emotional Behavioural Autonomic Dysregulation (EBAD). 

CIPPRD is a rare disease centre which assesses and manages multiple rare diseases with brain involvement. The CIPP Rett Centre is fully functional and provides care to over 175 Rett patients every working day of the year.  

At the Centre they have developed the Multi-system Profile of Symptoms Scale (MPSS), that allows for the symptoms of Rett syndrome to be accurately profiled and changes to be measured across time. The CIPP Rett Centre focusses on managing EBAD and on digital solutions to augment clinical care. Sensor-based wearables are used to collect autonomic measures of autonomic dysregulation objectively. The team have completed systematic reviews about the role of autonomic dysregulation in sudden death in Rett syndrome, autonomic dysregulation in acquired brain injury, and have developed risk stratification methods in RTT. They have also developed artificial intelligence algorithms using sensor-based biometrics to differentiate between Rett syndrome and autism spectrum disorder.  

They have also studied biomarkers that assist in decision-making about type of medication to manage the autonomic dysregulation. Using the HealthTrackerTM platform, they have the capability to risk stratify patients with Rett syndrome, provide clinical alerts in real time, and plan decentralized clinical trials, especially of repurposed molecules. They believe that sensor-based autonomic measures should be an outcome measure in clinical trials.