Addressing the need for patient-friendly medical communications: adaptation of the 2019 recommendations for the management of MPS VI and MPS IVA

Orphanet Journal of Rare Diseases

Vladimir Kenis¹  William Mackenzie²  Robert Walker³  Iain A. Bruce⁴  Christoph Kampmann⁵  Bob Stevens⁶  Fatih S. Ezgü⁷  Christian Hendriksz⁸ 

[1] Department of Foot and Ankle Surgery, Neuroorthopaedics and Skeletal Dysplasias, H. Turner National Medical Research Center for Children’s Orthopedics and Trauma Surgery;Department of Orthopedics, Nemours/Alfred I, Dupont Hospital for Children;Department of Paediatric Anaesthesia, Royal Manchester Children’s Hospital;Department of Paediatric Otolaryngology, Royal Manchester Children’s Hospital, Manchester Academic Health Service (MAHSC);Division of Cardiology, University Children’s Hospital, Johannes Guterberg Universität;MPS Society;Metabolism Unit, Department of Pediatrics, Gazi University;Steve Biko Academic Unit, Department of Pediatrics, University of Pretoria;

关键词: Rare diseases;    Mucopolysaccharidosis;    MPS IVA;    MPS VI;    Management guidelines;    Enzyme replacement therapy;   

DOI  :  10.1186/s13023-022-02219-7

来源: DOAJ

【 摘 要 】

Abstract Background Patients are the most important stakeholders in the care of any disease and have an educational need to learn about their condition and the treatment they should receive. Considering this need for patient-focused materials, we present a directed approach for mucopolysaccharidosis (MPS) VI and MPS IVA, a pair of rare, inherited diseases that affects multiple organs and parts of the body. Independent guidelines on the treatment of these diseases were recently published, providing evidence- and expertise-driven recommendations to optimize patient management. However, while healthcare providers may have the training and knowledge to understand these guidelines, patients and their caregivers can find the technical content challenging. Hence, we aimed to develop plain language summaries (PLS) of the MPS VI and MPS IVA guidelines with patients as the primary audience. Results A review of the guidelines by an expert team identified six domains of information relevant to patients: The multidisciplinary team, regular tests and check-ups, disease-modifying and supportive treatments, general anesthetics, ear-nose-throat/respiratory care, and surgeries. This information was adapted into a series of infographics specific to either MPS VI or MPS IVA, designed to appeal to patients and clearly present information in a concise manner. Conclusions The use of patient-friendly materials, like the infographics we have developed, has the potential to better inform patients and engage them in their care. We issue a “call to arms” to the medical community for the development of similar PLS materials in rare diseases intended to inform and empower patients.

【 授权许可】

Unknown