Abstract
Context
X-linked hypophosphatemia (XLH) is an inherited skeletal disorder that can lead to lifelong deleterious musculoskeletal and functional consequences. Although often perceived as a childhood condition, both children and adults experience the negative impacts of XLH. Adolescents and young adults (AYA) benefit from effective healthcare transition preparation to support the transfer from pediatric- to adult-focused care. Whereas transition timelines, milestones, and educational tools exist for some chronic conditions, they do not meet the unique needs of patients with XLH.
Evidence Acquisition
To produce the first expert recommendations on healthcare transition preparation for AYA with XLH developed by clinical care investigators and transition experts, a formal literature search was conducted and discussed in an advisory board meeting in July 2020. A modified Delphi method was used to refine expert opinion and facilitate a consensus position.
Evidence Synthesis
We identified the need for psychosocial and access-related resources for disease education, genetic counselling, family planning, and AYA emancipation from caregiver-directed care. Additionally, we recognized that it is necessary to facilitate communication with patients through channels familiar and accessible to AYA and teach patients to advocate for their healthcare/access to specialists.
Conclusions
Clear healthcare transition preparation guidelines and treatment-related goals are defined. Individualized timelines and practical strategies for healthcare transition preparation are proposed to optimize health outcomes resulting from continuous clinical care throughout the patient lifecycle. We provide an expert consensus statement describing a tailored healthcare transition preparation program specifically for AYA with XLH to aid in effective transfer from pediatric- to adult-focused healthcare.
Healthcare Transition from Pediatric- to Adult-Focused Care in X-Linked Hypophosphatemia: Review and Expert Consensus
