Author ORCID Identifier
0009-0002-1519-2554
Date of Completion
Spring 5-24-2025
Document Type
Open Access Project
Degree Name
Doctor of Nursing Practice (DNP)
Faculty Advisor
Eileen Stuart-Shor, PhD, ANP-BC, FAHA, FAAN
Practice Site Mentor
Mary Poyner Reed, PhD, ANP, CNRN, NEA-BC
Committee Mentor
Joelle Chateauneuf, DNP, APRN, FNP-BC
Abstract
Background: Children with medically complex diseases require highly specialized care by a highly specialized team. Those with rare disease, including inborn errors of metabolism (IEMs), are a medically complex population and face significant challenges undergoing the health care transition from a child/family-centered model to an adult/patient-centered model of care. The project site follows patients with IEMs in the Metabolism Program, but previously did not have a coordinated process and had insufficient resources for patients/families for the health care transition.
Methods: The Plan-Do-Study-Act (PDSA) method was utilized as the model for improvement. Due to the complexity of the population and time requirements, the project began with a pilot of the Health Care Transition Pathway, focused on the revision and evaluation of the Transition Toolkit for one IEM diagnosis, Phenylketonuria (PKU).
Intervention: The Health Care Transition Pathway consisted of an algorithm to guide the care of children and young adults with PKU transitioning from pediatric to adult care. One step in the algorithm utilized the Transition Toolkit, which includes a readiness assessment, disease education, clinical health summary, and transition plan.
Results: The PKU Transition Toolkit was revised, and a total of 10 patients utilized the PKU Transition Toolkit in a clinic visit. Survey results showed 75% of patients reported the toolkit would improve their experience with the transition to adulthood, 89% reported it would improve their readiness, and 89% reported it was easy to understand. For caregivers, 100% thought it would improve their child’s experience with the transition to adulthood, 75% felt it would improve their child’s readiness, and 100% thought it was easy to understand. For the providers, they agreed it would improve the patient experience (88%), readiness (100%), add value to patient care (100%), and be feasible to implement in clinic (75%). There was also a 100% increase in provider chart documentation of the health care transition discussion during a patient clinic visit.
Conclusion: The Health Care Transition Pathway and utilization of the revised PKU Transition Toolkit was successfully implemented in a pilot of children and young adults with PKU. Patients and caregivers felt that the PKU Transition Toolkit would benefit them and add value to their care. Providers reported that the PKU Transition Toolkit would add value to patient care and would be feasible to implement in clinic. The results also found the pilot led to a significant increase in provider documentation of health care transition discussion.
Recommended Citation
Murray, Brittany M., "Implementation of a Health Care Transition Pathway for Children and Adults with Inborn Errors of Metabolism: A Pilot Project" (2025). Doctor of Nursing Practice Scholarly Projects. 53.
https://scholarworks.umb.edu/nursing_dnp_capstone/53
Included in
Family Medicine Commons, Family Practice Nursing Commons, Medical Biochemistry Commons, Medical Genetics Commons, Other Medical Specialties Commons, Other Nursing Commons, Pediatric Nursing Commons, Pediatrics Commons, Quality Improvement Commons