Evidence map›Paper›PMID 40262952›Full record

Observational studyBMJ open2025

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

Cecilie Fremstad Rustad, Ragnheidur Bragadottir, Hilde Nordgarden, Jeanette Ullmann Miller, Mina Susanne Weedon-Fekjær, Shahrzad Arfa, Pamela Marika Åsten, Kristian Tveten, Charlotte von der Lippe, Solrun Sigurdardottir

Registry-linked trialAbstract readObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in BMJ open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05400278 (Characterizing the Genotype, Phenotype, Health Issues, and Quality of Life in Adults With Bardet-Biedl Syndrome), which is not on this map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT05400278 completednot on this map

Characterizing the Genotype, Phenotype, Health Issues, and Quality of Life in Adults With Bardet-Biedl Syndrome

TypeobservationalSponsorOslo University HospitalRan2022 to 2023Enrolled30ConditionsBardet-Biedl SyndromeArmsNo intervention
3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Cecilie Fremstad RustadCentre for Rare Disorders, Oslo University Hospital, Oslo, Norway cerus@ous-hf.no.ORCID http://orcid.org/0000-0001-7903-9087
Ragnheidur BragadottirFaculty of Medicine, University of Oslo, Oslo, Norway.
Hilde NordgardenNational Resource Centre for Oral Health in Rare Disorders, Lovisenberg Diakonale Hospital, Oslo, Norway.ORCID http://orcid.org/0000-0003-3252-1735
Jeanette Ullmann MillerCentre for Rare Disorders, Oslo University Hospital, Oslo, Norway.ORCID http://orcid.org/0009-0005-8609-9631
Mina Susanne Weedon-FekjærCentre for Rare Disorders, Oslo University Hospital, Oslo, Norway.ORCID http://orcid.org/0000-0003-1791-4485
Shahrzad ArfaCentre for Rare Disorders, Oslo University Hospital, Oslo, Norway.
Pamela Marika ÅstenNational Resource Centre for Oral Health in Rare Disorders, Lovisenberg Diakonale Hospital, Oslo, Norway.
Kristian TvetenDepartment of Medical Genetics, Telemark Hospital, Skien, Telemark, Norway.ORCID http://orcid.org/0000-0003-1316-5843
Charlotte von der LippeDepartment of Medical Genetics, Telemark Hospital, Skien, Telemark, Norway.ORCID http://orcid.org/0000-0003-3176-0160
Solrun SigurdardottirCentre for Rare Disorders, Oslo University Hospital, Oslo, Norway.ORCID http://orcid.org/0000-0002-7194-3570

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesThis 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.

designCross-sectional study.

settingOutpatient hospital visits.

participants30 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.

resultsThe 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).

conclusionsMost 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.

Indexed as

Bardet-Biedl SyndromeHealth Services Needs and DemandHealth StatusPatient Acceptance of Health CareAdultAgedCross-Sectional StudiesFemaleHumansMaleMiddle AgedNorwayQuality of LifeYoung AdultDisabled PersonsHealth ServicesObesityQuality of Life

Identifiers

PMID40262952
PMCPMC12015731

What Socratic holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.