Difficulties adapting to nail-patella ...
Type de document :
Article dans une revue scientifique: Article original
DOI :
PMID :
URL permanente :
Titre :
Difficulties adapting to nail-patella syndrome: a qualitative study of patients'' perspectives
Auteur(s) :
Geerts-Crabbe, Laura [Auteur]
Laboratoire Sciences Cognitives et Sciences Affectives - UMR 9193 [SCALab]
Antoine, Pascal [Auteur]
Sciences Cognitives et Sciences Affectives (SCALab) - UMR 9193
Brugalle, Elodie [Auteur]
Laboratoire Sciences Cognitives et Sciences Affectives - UMR 9193 [SCALab]
Ghoumid, Jamal [Auteur]
Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Bellengier, Laurence [Auteur]
Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME]
Edery, Patrick [Auteur]
Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center [CRNL]
Heron, Delphine [Auteur]
CHU Pitié-Salpêtrière [AP-HP]
Manouvrier, Sylvie [Auteur]
Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Fantini-Hauwel, Carole [Auteur]
Faculté des Sciences [Bruxelles] [ULB]
Laboratoire Sciences Cognitives et Sciences Affectives - UMR 9193 [SCALab]
Antoine, Pascal [Auteur]
Sciences Cognitives et Sciences Affectives (SCALab) - UMR 9193
Brugalle, Elodie [Auteur]
Laboratoire Sciences Cognitives et Sciences Affectives - UMR 9193 [SCALab]
Ghoumid, Jamal [Auteur]
Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Bellengier, Laurence [Auteur]
Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME]
Edery, Patrick [Auteur]
Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center [CRNL]
Heron, Delphine [Auteur]
CHU Pitié-Salpêtrière [AP-HP]
Manouvrier, Sylvie [Auteur]
Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Fantini-Hauwel, Carole [Auteur]
Faculté des Sciences [Bruxelles] [ULB]
Titre de la revue :
Journal of Genetic Counseling
Nom court de la revue :
J Genet Couns
Date de publication :
2019-07-16
ISSN :
1573-3599
Mot(s)-clé(s) :
beliefs
adaptation difficulty
carrier testing
congenital physical disability
coping strategies
disability
distress
genetic counselling
genetic testing
health behavior
lived experience
medical adherence
Nail-Patella syndrome
poor self-esteem
predictive genetic testing
quality of life
risk perception
subjective experience
adaptation difficulty
carrier testing
congenital physical disability
coping strategies
disability
distress
genetic counselling
genetic testing
health behavior
lived experience
medical adherence
Nail-Patella syndrome
poor self-esteem
predictive genetic testing
quality of life
risk perception
subjective experience
Discipline(s) HAL :
Sciences du Vivant [q-bio]
Résumé en anglais : [en]
Nail-Patella syndrome (NPS) is a genetic disorder generating physical malformations and, in approximately one in three cases, ocular and renal damage. The present research aimed to deeply understand patients' subjective ...
Lire la suite >Nail-Patella syndrome (NPS) is a genetic disorder generating physical malformations and, in approximately one in three cases, ocular and renal damage. The present research aimed to deeply understand patients' subjective experience with NPS, particularly the aspects of the syndrome that affect patients' adaptation and to propose interventions that can improve genetic and psychological counseling and help patients cope with their condition. Semi-structured interviews of nine people diagnosed with NPS were analyzed using interpretative phenomenological analysis. Results highlighted attempts to look like a person without disabilities by hiding malformations and not telling the truth about symptoms' genetic origin because of patients' poor self-esteem, negative self-cognition, and social isolation experienced from childhood to adulthood. Difficulties of adaptation to physical limits and pain were also identified. The majority of participants who were not diagnosed at birth tended to consider physical symptoms as "birth malformations" without imagining other potential implications until receiving a diagnosis. Despite the diagnosis, the majority continued to minimize the potential complications by considering NPS as a "physical difference" and not adhering to medical surveillance.Lire moins >
Lire la suite >Nail-Patella syndrome (NPS) is a genetic disorder generating physical malformations and, in approximately one in three cases, ocular and renal damage. The present research aimed to deeply understand patients' subjective experience with NPS, particularly the aspects of the syndrome that affect patients' adaptation and to propose interventions that can improve genetic and psychological counseling and help patients cope with their condition. Semi-structured interviews of nine people diagnosed with NPS were analyzed using interpretative phenomenological analysis. Results highlighted attempts to look like a person without disabilities by hiding malformations and not telling the truth about symptoms' genetic origin because of patients' poor self-esteem, negative self-cognition, and social isolation experienced from childhood to adulthood. Difficulties of adaptation to physical limits and pain were also identified. The majority of participants who were not diagnosed at birth tended to consider physical symptoms as "birth malformations" without imagining other potential implications until receiving a diagnosis. Despite the diagnosis, the majority continued to minimize the potential complications by considering NPS as a "physical difference" and not adhering to medical surveillance.Lire moins >
Langue :
Anglais
Audience :
Internationale
Vulgarisation :
Non
Établissement(s) :
CHU Lille
CNRS
Université de Lille
CNRS
Université de Lille
Collections :
Équipe(s) de recherche :
Équipe Dynamique Émotionnelle et Pathologies (DEEP)
Date de dépôt :
2021-09-02T07:01:50Z
2021-09-22T09:05:28Z
2021-09-22T09:05:28Z