Healthcare needs, care use and health status outcomes in adults with Bardet-Biedl syndrome: a cross-sectional study in Norway.

OBJECTIVES

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.

DESIGN

Cross-sectional study.

SETTING

Outpatient hospital visits.

PARTICIPANTS

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.

RESULTS

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).

CONCLUSIONS

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.

TRIAL REGISTRATION NUMBER: This study was registered at ClinicalTrials.gov, NCT05400278.