The experience of diagnosis announcement in rare endocrine diseases: A survey of the French FIRENDO network.

Autor: Rahabi H; Service d'endocrinologie, hôpital de la Conception, centre de référence des maladies rares de l'hypophyse HYPO, Assistance Publique-Hôpitaux de Marseille (AP-HM), 13005 Marseille, France., Givony M; Service d'endocrinologie, filière santé maladies rares endocriniennes FIRENDO, Assistance Publique-Hôpitaux de Paris, Groupe hospitalo-universitaire AP-HP Centre, Hôpital Cochin, 75014 Paris, France., Demaret B; Association GRANDIR, 92600 Asnières-sur-Seine, France., Albarel F; Service d'endocrinologie, hôpital de la Conception, centre de référence des maladies rares de l'hypophyse HYPO, Assistance Publique-Hôpitaux de Marseille (AP-HM), 13005 Marseille, France., Aubron MR; Association Craniopharyngiome-solidarité, 65000 Tarbes, France., Bartès B; Association Vivre sans Thyroïde, 31490 Léguevin, France., Bernard L; MAIA: Association pour aider toutes personnes confrontées à l'infertilité, 61140 Bagnoles de l'Orne, France., Abdoul H; URC Paris Descartes Necker/Cochin, hôpital Tarnier, 75006 Paris, France., Bouazza N; URC Paris Descartes Necker/Cochin, hôpital Tarnier, 75006 Paris, France., Brun P; Association ASSYMCAL: Syndrome de Mc Cune Albright dysplasie fibreuse de l'os, 85000 La Roche sur Yon, France., Drui D; Service d'endocrinologie, l'institut du thorax, centre hospitalier universitaire de Nantes, Boulevard Jacques Monod, 44093 Nantes Cedex, France., Dujardin V; Valentin APAC: Association de Porteurs d'Anomalies Chromosomiques, 95610 Eragny-sur-Oise, France., Lançon C; Acromégales, Pas Seulement..., association nationale de l'acromégalie reconnue d'intérêt général, 59234 Villers-au Tertre, France., Malivoir S; Assistance Publique-Hôpitaux de Paris, hôpital Armand Trousseau, 75571 Paris, France., Netchine I; Assistance Publique-Hôpitaux de Paris, hôpital Armand Trousseau, 75571 Paris, France., Perrotin B; AFIF SSR/PAG: Association Française des Familles touchées par le Syndrome de Silver Russell (SSR) et des personnes nées Petites pour l'Age Gestationnel (PAG) et leurs amis, 30390 Domazan, France., Picard V; Association du Syndrome de Wolfram, 56390 Grand-Champ, France., Reynaud R; Service de pédiatrie multidisciplinaire, hôpital de la Timone Enfants, centre de référence des maladies rares de l'hypophyse HYPO, Assistance Publique-Hôpitaux de Marseille (AP-HM), 13005 Marseille, France; Aix-Marseille Université, Institut National de la Santé et de la Recherche Médicale (Inserm), U1251, Marseille Medical Genetics (MMG), Institut Marseille Maladies Rares (MarMaRa), Marseille, France., Ribeiro M; Plateforme PRIOR, Centre Hospitalier Universitaire d'Angers, 49000 Angers, France., Tardy Guidollet V; Hospices Civils de Lyon (HCL), laboratoire de biologie médical multisites, centre de référence DEV-GEN, 69677 Bron, France., Victor A; Association syndrome de Rokitansky- MRKH, 75013 Paris, France., Bertherat J; Service d'endocrinologie, filière santé maladies rares endocriniennes FIRENDO, Assistance Publique-Hôpitaux de Paris, Groupe hospitalo-universitaire AP-HP Centre, Hôpital Cochin, 75014 Paris, France; Service d'endocrinologie, centre de référence maladies rares de la Surrénale, 75014, Paris France. Université Paris Cité, Inserm U1016, CNRS UMR 8104, Institut Cochin, Génomique et Signalisation des Tumeurs Endocrines, Assistance Publique-Hôpitaux de Paris, Groupe hospitalo-universitaire AP-HP Centre, Hôpital Cochin, Paris, France., Colin C; Association Surrénales, 35200 Rennes, France., Brue T; Service d'endocrinologie, hôpital de la Conception, centre de référence des maladies rares de l'hypophyse HYPO, Assistance Publique-Hôpitaux de Marseille (AP-HM), 13005 Marseille, France; Aix-Marseille Université, Institut National de la Santé et de la Recherche Médicale (Inserm), U1251, Marseille Medical Genetics (MMG), Institut Marseille Maladies Rares (MarMaRa), Marseille, France. Electronic address: thierry.brue@ap-hm.fr.
Jazyk: angličtina
Zdroj: Annales d'endocrinologie [Ann Endocrinol (Paris)] 2024 Feb; Vol. 85 (1), pp. 27-35. Date of Electronic Publication: 2023 Nov 10.
DOI: 10.1016/j.ando.2023.10.008
Abstrakt: Context: Diagnosis announcement of a chronic disease is a crucial moment for patients as well as for their families and an important step in the management of severe conditions such as rare endocrine diseases. Little is known of how diagnosis is communicated to patients and families. The FIRENDO network was created by the third French Plan for Rare Diseases, to promote autonomy, care and research on rare endocrine diseases.
Objectives: The aim of this study was to characterize, for the first time, the experience and needs of patients and/or their parents around the announcement of diagnosis to ensure optimal quality of care.
Methods: A quantitative self-administered survey on diagnosis announcement procedures in rare endocrine diseases was launched in April 2017 by the ad hoc FIRENDO thematic working group in collaboration with its 11 partnering patient associations and support groups. The questionnaire was designed and revised by patient support group representatives, adult and pediatric endocrinologists, psychologists and biologists, all expert in rare endocrine diseases. It was made available on the FIRENDO network website and distributed mainly by email with electronic links on their respective websites to members of all affiliated patient support groups.
Results: Questionnaires were filled out by 391 patients and 223 parents (median age of patients: 39 years). The following conditions were associated with at least 30 answers: Addison's disease, classical forms of congenital adrenal hyperplasia (CAH), Russell-Silver syndrome, Cushing's syndrome, acromegaly and craniopharyngioma. Overall, some announcement modalities were judged favorably by patients: physician's empathy, availability and use of clear terms, and presence of family at the time of announcement. However, a lack of psychological care and information documents was reported, as well as some inadequate procedures such as postal mail announcements.
Conclusion: This work suggests that better knowledge of the patient's experience is useful for improving the diagnosis announcement of rare endocrine disorders. The main recommendations derived from the survey were the need for several announcement visits, information on patient support groups and reference centers, imperatively avoiding impersonal announcement, and the usefulness of a written accompanying document.
(Copyright © 2023 Elsevier Masson SAS. All rights reserved.)
Databáze: MEDLINE
Externí odkaz: