Evidence map›Paper›PMID 39614274›Full record

ArticleOrphanet journal of rare diseases2024

Shifting focus from ideality to reality: a qualitative study on how quality of life is defined by premanifest and manifest Huntington's disease gene expansion carriers.

Pearl J C van Lonkhuizen, Anne-Wil Heemskerk, Leanne Slutter, Erik van Duijn, Susanne T de Bot, Niels H Chavannes, Eline Meijer, HEALTHE-RND consortium

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In one paragraph

Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the 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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
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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

8 authors.

Pearl J C van LonkhuizenDepartment of Public Health and Primary Care, Leiden University Medical Center, Postzone V0-P, PO Box 9600, 2300 RC, Leiden, The Netherlands. p.j.c.van_lonkhuizen@lumc.nl.ORCID 0000-0002-7036-768X
Anne-Wil HeemskerkDepartment of Public Health and Primary Care, Leiden University Medical Center, Postzone V0-P, PO Box 9600, 2300 RC, Leiden, The Netherlands.
Leanne SlutterDepartment of Public Health and Primary Care, Leiden University Medical Center, Postzone V0-P, PO Box 9600, 2300 RC, Leiden, The Netherlands.
Erik van DuijnDepartment of Public Health and Primary Care, Leiden University Medical Center, Postzone V0-P, PO Box 9600, 2300 RC, Leiden, The Netherlands.ORCID 0000-0003-2469-6252
Susanne T de BotDepartment of Neurology, Leiden University Medical Center, Leiden, The Netherlands.ORCID 0000-0002-3512-2468
Niels H ChavannesDepartment of Public Health and Primary Care, Leiden University Medical Center, Postzone V0-P, PO Box 9600, 2300 RC, Leiden, The Netherlands.ORCID 0000-0002-8607-9199
Eline MeijerDepartment of Public Health and Primary Care, Leiden University Medical Center, Postzone V0-P, PO Box 9600, 2300 RC, Leiden, The Netherlands.ORCID 0000-0001-7078-5067
HEALTHE-RND consortium

Funding

EU Joint Programme - Neurodegenerative Disease Research 01ED1903
6 · The paper itself

Abstract

backgroundUnderstanding quality of life (QoL) is important in diseases for which there is no cure to date, such as Huntington's disease (HD). A deeper level of understanding is, however, compromised by the lack of studies examining QoL from the perspectives of HD gene expansion carriers (HDGECs). Only a few qualitative studies on QoL in HD have been performed, yet none investigated how QoL is defined by HDGECs themselves.

objectiveThis qualitative study explores how premanifest and manifest HDGECs define their QoL.

methodsOnline semi-structured interviews were conducted with 6 premanifest and 6 manifest HDGECs in the Netherlands. Qualitative content analysis was used to explore participants' QoL definitions via inductive coding and the subsequent formulation of (sub)categories and (sub)themes.

resultsPremanifest and manifest HDGECs had a different focus when defining QoL. Two subthemes were identified for premanifest HDGECs: Thoughts about a meaningful life regardless of HD and Concerns about the future progression and impact of HD. For manifest HDGECs, two other subthemes were identified: Coming to terms with HD and Shifting perspectives due to the impact of HD. One overall theme was generated, reflecting the difference and adaptive shift in focus between premanifest and manifest HDGECs: Shifting focus from ideality to reality.

conclusionsIn providing optimal care, HDGECs should be considered as part of a complex, continuously changing environment, thereby taking into account their individual QoL experiences and tailoring care accordingly. HDGECs might benefit from forming helpful beliefs about future adaptability and resilience and developing adaptive coping strategies.

Indexed as

Huntington DiseaseQualitative ResearchQuality of LifeAdultFemaleHumansMaleMiddle AgedNetherlandsHuntington diseaseNeurodegenerative diseasesPsychological well-beingQualitative researchQuality of life

Identifiers

PMID39614274
PMCPMC11605912

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Registered trials

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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 OpenQuestion graph.