Neurocognitive Outcomes and Quality of Life in Adults with MSUD

Dr. Jessica Gold

Children’s Hospital of Philadelphia

Thanks to medical advances like newborn screening people with MSUD are living longer and healthier lives. Patients are now reaching previously unobtainable milestones. Many desire to live independently, have a job, and start a family. While the biochemical markers of these young adults have been carefully monitored, less is known about their thinking and quality of life. The purpose of this research study is to 1) look at thinking, behavior, and life skills, and quality of life in adults with MSUD and 2) measure how medical and personal factors impact these areas. The study will assesses thinking and behavior skills through online questionnaires and life skills through online surveys. We will also conduct interviews to evaluate what it is like being an adult with MSUD. All testing can be done remotely and adults with MSUD of all ages are invited to participate. Participants will receive a stipend to compensate them for their time. The results of the study will be used to learn how to best help adults with MSUD prepare for success in adulthood by ensuring appropriate support.

This project was supported by the Million Dollar Bike Ride, sponsored by the Orphan Disease Center at the University of Pennsylvania.