Addressing psychosocial vulnerability in rare diseases: a call to action from a European expert consensus study

应对罕见病患者的社会心理脆弱性:一项欧洲专家共识研究的行动呼吁

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Abstract

BACKGROUND: Persons living with a rare disease (PLWRD) often encounter burdensome and stressful events that may severely affect their psychosocial vulnerability. There is an urgent need for psychosocial support in PLWRD. We aimed to reach consensus about the most prominent psychosocial needs in rare diseases and future research directions to develop adequate psychosocial support for rare diseases. METHODS: An adapted nominal group technique (NGT) session was conducted in Nijmegen (The Netherlands) with a European expert group of professionals working in the rare disease field. Seventeen participants from seven different European countries took part in the NGT session (seven researchers, two therapists, one patient representative, four clinicians/researchers, and three clinicians), and 23 participants took part in the overall workshop and contributed to this consensus statement. RESULTS: An initial list of 57 psychosocial needs was aligned with Pickers' theoretical framework of eight principles of care: patient-centredness, emotional support, access to care, information and education, partner and family involvement, respect and autonomy, care organisation, continuity of care, and physical comfort. For future research directions, six items remained with main focal points addressing international collaborations, inclusivity in rare diseases (patient representatives, ethnic minorities, and elderly), identifying common needs across rare diseases, and translating psychosocial models from common chronic conditions. CONCLUSIONS: A consensus meeting was organised that primarily addressed the psychosocial vulnerability in rare diseases. With the outcomes of this study, we aim for better representation of psychosocial vulnerability within health care and to create future research directions to reduce psychosocial vulnerability in rare diseases.

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