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

Eur J Hum Genet

Department of Education and Psychology, CINTESIS (Centre for Health Technology and Services Research), University of Aveiro, Aveiro, Portugal.

Published: September 2020

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.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608350PMC
http://dx.doi.org/10.1038/s41431-020-0630-zDOI Listing

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