Evidence map›Paper›PMID 32341469›Full record

ArticleEuropean journal of human genetics : EJHG2020

Management of information within Portuguese families with Huntington disease: a transgenerational process for putting the puzzle together.

Carla Roma Oliveira, Álvaro Mendes, Jorge Sequeiros, Liliana Sousa

Abstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Review
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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

4 authors.

Carla Roma OliveiraDepartment of Education and Psychology, CINTESIS (Centre for Health Technology and Services Research), University of Aveiro, Aveiro, Portugal. carlaromaoliveira@ua.pt.ORCID http://orcid.org/0000-0002-8988-8709
Álvaro MendesUnIGENe and CGPP - Centre for Predictive and Preventive Genetics, IBMC - Institute for Molecular and Cell Biology, i3S - Instituto de Investigação e Inovação em Saúde, University of Porto, Porto, Portugal.ORCID http://orcid.org/0000-0002-8766-7646
Jorge SequeirosUnIGENe and CGPP - Centre for Predictive and Preventive Genetics, IBMC - Institute for Molecular and Cell Biology, i3S - Instituto de Investigação e Inovação em Saúde, Univ. Porto, Portugal; and ICBAS - Instituto de Ciências Biomédicas Abel Salazar, University of Porto, Porto, Portugal.ORCID http://orcid.org/0000-0002-9846-1037
Liliana SousaDepartment of Education and Psychology, CINTESIS (Centre for Health Technology and Services Research), University of Aveiro, Aveiro, Portugal.

Funding

Ministry of Education and Science | Fundação para a Ciência e a Tecnologia (Portuguese Science and Technology Foundation) SFRH/BD/131925/2017
6 · The paper itself

Abstract

Huntington disease (HD) is a rare progressive neurological disease, with no cure, inherited in an autosomal dominant fashion, significantly impacting family relations, health and well-being. So far, no studies have reported how Portuguese families deal with information about HD, from a transgenerational perspective. This qualitative study aims to fill in that gap, and focuses on how families acquire knowledge about HD and management of information within the family and in their social relationships. The study adopted semi-structured interviews with 10 participants from HD families. Interviews were transcribed and analysed thematically. Findings suggested that management of information in the family started with the search for a diagnosis in an affected family member. Diagnosis led to a process of "making sense of HD in the family", which activated a transgenerational process to understand HD in the family context, marked by improved awareness and different ways family members manage it (closedness and openness). These results should be relevant for health-care professionals, bringing further insight into the process of acquiring knowledge about HD, and highlighting the relevance of continued efforts for enhanced pre- and post-test counselling and ongoing support to the HD families.

Indexed as

Patient Acceptance of Health CareAdultAgedFamilyFemaleGenetic CounselingHumansHuntington DiseaseMaleMiddle AgedPortugal

Identifiers

PMID32341469
PMCPMC7608350

What OpenQuestion holds

Textmetadata
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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.