Rustad Cecilie Fremstad, Bragadottir Ragnheidur, Nordgarden Hilde, Miller Jeanette Ullmann Ullmann, Weedon-Fekjær Mina Susanne, Arfa Shahrzad, Åsten Pamela Marika, Tveten Kristian, von der Lippe Charlotte, Sigurdardottir Solrun
Centre for Rare Disorders, Oslo University Hospital, Oslo, Norway
Faculty of Medicine, University of Oslo, Oslo, Norway.
BMJ Open. 2025 Apr 22;15(4):e095986. doi: 10.1136/bmjopen-2024-095986.
This study aimed to determine healthcare needs and care use (provision of healthcare) in adults with Bardet-Biedl syndrome (BBS) and the associations between care use and physical functioning, health status outcomes and distress.
Cross-sectional study.
Outpatient hospital visits.
30 adults with BBS were included (50% women, aged 20-69 years) and assessed with the Needs and Provision Complexity Scale, Short Physical Performance Battery, EuroQoL five dimensions with five severity levels (EQ-5D-5L) and Hospital Anxiety and Depression Scale.
The majority (80%) received disability benefits, 93% were overweight or obese and all had retinal dystrophy. Unmet needs (needs-gets) were found within the domains of rehabilitation (83%), social and family support (63%), healthcare (50%), personal care (47%) and the environment (40%). Significant correlations were observed between care use (gets) and worse physical performance (τ=-0.34, p<0.05), more problems with self-care (τ=0.47, p<0.01) and more problems with usual activities (τ=0.41, p=0.01). Compared with those in the general population, adults with BBS reported significantly more problems (EQ-5D-5L) with mobility, self-care, and usual activities (all p<0.001).
Most adults with BBS have unmet physical, social and medical needs, with the majority having unmet rehabilitation needs that require special attention. Physical mobility and usual activities were correlated with the provision of healthcare. The complexity of BBS requires a multidisciplinary approach that focuses not only on the medical follow-up of the condition but also on healthcare needs for functional mobility and social care.
This study was registered at ClinicalTrials.gov, NCT05400278.
本研究旨在确定患有巴德-比德尔综合征（BBS）的成年人的医疗保健需求和医疗保健利用情况（医疗保健的提供），以及医疗保健利用与身体功能、健康状况结果和痛苦之间的关联。
横断面研究。
门诊医院就诊。
纳入30名患有BBS的成年人（50%为女性，年龄20 - 69岁），并使用需求与提供复杂性量表、简短身体表现电池测试、具有五个严重程度等级的欧洲五维健康量表（EQ - 5D - 5L）和医院焦虑抑郁量表进行评估。
大多数（80%）领取残疾津贴，93%超重或肥胖，所有人都患有视网膜营养不良。在康复（83%）、社会和家庭支持（63%）、医疗保健（50%）、个人护理（47%）和环境（40%）领域发现了未满足的需求（需求 - 获得情况）。在医疗保健利用（获得情况）与较差的身体表现（τ = - 0.34，p < 0.05）、更多的自我护理问题（τ = 0.47，p < 0.01）以及更多的日常活动问题（τ = 0.41，p = 0.01）之间观察到显著相关性。与一般人群相比，患有BBS的成年人在行动能力、自我护理和日常活动方面报告的问题（EQ - 5D - 5L）明显更多（所有p < 0.001）。
大多数患有BBS的成年人在身体、社会和医疗方面存在未满足的需求，大多数人有未满足的康复需求，需要特别关注。身体行动能力和日常活动与医疗保健的提供相关。BBS的复杂性需要多学科方法，不仅要关注病情的医学随访，还要关注功能行动能力和社会护理的医疗保健需求。
本研究已在ClinicalTrials.gov注册，NCT05400278。
