The research has now produced findings showing that executive function and adaptive skills can have an important relationship with education, employment, health-care transition and independent living.
Looking Beyond Metabolic Control
As newborn screening, treatment and metabolic care have improved, more people diagnosed with MSUD are reaching and navigating adulthood.
That success has created new research questions. Researchers increasingly need to understand not only survival and biochemical control, but also how adults with MSUD learn, work, manage health care, build relationships, live independently and experience quality of life.
A Children's Hospital of Philadelphia research project, led by Dr. Jessica Gold and colleagues, was designed to examine thinking skills, behaviour, adaptive or day-to-day life skills and quality of life in adults with MSUD.
Participants completed remote assessments examining areas such as executive function, adaptive functioning, behaviour and quality of life. The study also explored how medical and personal factors might relate to longer-term adult outcomes.
ClinicalTrials.gov reports that 44 people participated in the study, which included adults with MSUD as well as comparison participants.
What Did Researchers Find?
Results from the research were published in the Journal of Inherited Metabolic Disease in 2025.
Researchers reported a wide range of educational, employment and living outcomes among adults with MSUD. Their assessments found that, as a group, adults with MSUD showed greater difficulty with executive function and adaptive function than comparison participants.
Executive function includes skills we use to plan, organize, shift attention, solve problems and manage tasks. Adaptive functioning describes practical skills used in everyday life, including managing responsibilities and increasing independence.
Greater difficulties in these areas were associated with lower educational attainment, employment outcomes and challenges obtaining skills needed for adult-oriented health care or independent living.
Researchers emphasized that independent adulthood is attainable for people with MSUD. Their findings suggest that routinely recognizing executive and adaptive challenges, and providing supports that specifically address them, may help people with MSUD achieve their individual goals.
This shifts an important part of the conversation from asking whether someone is metabolically stable to also asking whether they have the tools, supports and skills they need for adult life.
2026 Update: Listening to Adults and Caregivers
The research has continued to add depth to our understanding of adulthood with MSUD.
In July 2026, researchers published additional work examining the lived experiences of adults with MSUD and caregivers, with a particular focus on health-care transition and independent living.
Participants described a wide range of experiences. Themes included inconsistent transition from pediatric to adult health care, changing health concerns in adulthood, mental health needs, difficulties finding adult providers familiar with MSUD, and very different experiences with education, employment and financial independence.
The research also captured important adult milestones, including romantic relationships, parenthood and increasing independence. Together, these findings reinforce that adults with MSUD need care and support systems designed for adulthood, not simply an extension of pediatric metabolic care.
Blood leucine levels and prevention of metabolic crises remain critically important, but they do not tell us everything about how a person is doing. Adult care may also need to consider executive functioning, adaptive skills, mental health, health-care transition, employment, education, relationships and independence.
For families of children and teens, these findings also provide a reason to think about adult-life skills early. Support for planning, organization, self-management and gradual participation in health-care decisions can be part of preparing for adulthood alongside metabolic care.
Now that the study is complete and findings have been published, we have moved the information into our Research Articles & Updates section. This allows the original research story and its results to remain available while current study opportunities are found through clinical trial registries and other up-to-date research sources.
Learn More
Explore the original study and published findings:
View the Original Study on ClinicalTrials.gov Executive and Adaptive Function in Adults With MSUD Journal of Inherited Metabolic Disease, 2025 Navigating Adulthood With MSUD Patient and caregiver perspectives on health-care transition and independent living, 2026
