Barriers to and Facilitators of Providing Care for Adolescents Suffering from Rare Diseases: A Mixed Systematic Review.

Abstract

Rare Diseases (RDs) in adolescents are characterized by low frequency and clinical heterogeneity, are chronic and deliberating and demand a multidisciplinary approach as well as costly and specialized treatments. Comprehending patients' and parents' needs through a mixed systematic review is essential for healthcare system planning. This mixed systematic review explored barriers to and facilitators of effective care for adolescents with RDs as perceived by patients and their parents. Three databases (2008-2023) were searched and twenty-five articles were selected and critically appraised with the Mixed Methods Appraisal Tool (MMAT; version 2018). The review followed a convergent integrated approach for data extraction according to Joanna Briggs Institute's (JBI) mixed method systematic review (MMSR) methodology. Subsequent reflexive thematic analysis categorized the barriers and facilitators into five levels (intrapersonal, interpersonal, institutional, community and public policy) following the conceptual framework of the socio-ecological model for healthcare promotion. Barriers on the institutional and public policy level stood out as the most frequently reported, resulting in unmet care needs and frustrating family dynamics. National and regional healthcare policies are rarely actually linked to pragmatic intervention programs with a measurable impact on patients' welfare. Targeted strategies involving primary care infrastructure and personnel for better coordination and management of the disease are discussed.