Title :

The Subjective Experience of Patients Diagnosed with Hereditary Hemorrhagic Telangiectasia: a Qualitative Study

Author(s) :

Geerts, Laura [Auteur]
Laboratoire Sciences Cognitives et Sciences Affectives - UMR 9193 [SCALab]

Fantini-Hauwel, Carole [Auteur]
Laboratoire Sciences Cognitives et Sciences Affectives - UMR 9193 [SCALab]

Brugallé, Elodie [Auteur]
Laboratoire Sciences Cognitives et Sciences Affectives - UMR 9193 [SCALab]
Boute, Odile [Auteur]
Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME]
Frénois, Frédéric [Auteur]
Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME]
Defrance, Lydie [Auteur]
Laboratoire Sciences Cognitives et Sciences Affectives - UMR 9193 [SCALab]
Manouvrier-Hanu, Sylvie [Auteur]
Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME]
Petit, Florence [Auteur]
Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME]
Antoine, Pascal [Auteur]
Laboratoire Sciences Cognitives et Sciences Affectives - UMR 9193 [SCALab]

Journal title :

Journal of Genetic Counseling

Abbreviated title :

J Genet Couns

Volume number :

26

Pages :

612-619

Publication date :

2016-10-28

ISSN :

1573-3599

English keyword(s) :

Children transmission
Diagnosis delay
Genetic diagnosis
Hereditary disease
Hereditary hemorrhagic telangiectasia
Psychological consequences

HAL domain(s) :

Sciences cognitives

English abstract : [en]

The aim of the present study was to understand the context and psychological impact for patients diagnosed with hereditary hemorrhagic telangiectasia (HHT). Semi-structured interviews were conducted with 9 patients affected ...
Show more >The aim of the present study was to understand the context and psychological impact for patients diagnosed with hereditary hemorrhagic telangiectasia (HHT). Semi-structured interviews were conducted with 9 patients affected by HHT, and the transcripts were analyzed using interpretative phenomenological analysis. The results of this study allowed us to propose a new hypothesis to explain the delay in diagnosis: the trivialization of symptoms associated with HHT. Moreover, the results showed that a genetic diagnosis of HHT results in emotional shock, uncertainty about the future, and worry about one's children in parents who are confronted with the dilemma of facing the reality of the diagnosis or delaying dealing with the diagnosis until disease onset. Family and personal perceptions of the disease influenced not only the delay in diagnosis but also the emotional and behavioral reactions of patients following a genetic diagnosis.Show less >

Language :

Anglais

Audience :

Non spécifiée

Administrative institution(s) :

Université de Lille
CNRS
CHU Lille

Collections :

• Sciences Cognitives et Sciences Affectives (SCALab) - UMR 9193

Research team(s) :

Équipe Dynamique Émotionnelle et Pathologies (DEEP)

Submission date :

2019-02-13T14:48:19Z
2020-04-14T12:30:00Z