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

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.

Drivers of patient and caregiver preferences for growth hormone deficiency treatments in France: a discrete choice experiment.

INTRODUCTION: To identify drivers of preference for growth hormone deficiency (GHD) treatment in French children, and their caregivers, and to quantify the relative importance of different aspects of treatment modalities using a discrete choice experiment (DCE). MATERIALS AND METHODS: Attributes characterizing GHD treatment modalities were identified through a literature review, qualitative interviews and focus groups with children, adolescents, and caregivers. A DCE questionnaire of 12 choice tasks was administered online to four groups of participants: autonomous adolescents (12 to 18 years), non-autonomous adolescent / caregiver dyads, caregivers of non-autonomous children (3 to 11 years) and autonomous children / caregiver dyads. The survey was pilot tested. A multinomial logit model with random effects was used to estimate preference weights for all attribute levels. RESULTS: Frequency of administration, injection pain, dose setting, type of device, storage and device reusability were selected as DCE attributes following the qualitative research phase and a pilot study. A total of 105 patients were represented in the DCE survey. Frequency of administration and injection pain were the attributes with the greatest influence on respondents' preferences and had similar importance. Weekly administration was significantly preferred over daily administration by all groups of participants. Respondents' choices were also significantly influenced by the type of device, dose setting and device reusability. CONCLUSION: Children with GHD and their caregivers prefer a less frequent injection schedule and lower injection pain. Both aspects of treatment modalities are important to consider in treatment decisions to alleviate the daily burden for GHD patients and their families and potentially enhance treatment adherence.

[Towards more informed consent: Making information understandable]. / Vers un consentement plus éclairé - Rendre l'information accessible.

In clinical research and care, information notices are too often reduced to complicated and hard-to-understand mandatory documents. However, every person has the right to transparent and truthful information. These considerations prompted the creation of a multidisciplinary working group in the fall of 2020, headed by the College des relecteurs de l'Inserm. This group associates the different actors involved in the development, evaluation and use of information notices: Health and research professionals, representatives of patient associations or research foundations, ethicists, jurists, scientific educators and communicators. This group has created a set of texts, pictograms and illustrations, adapted to the people concerned and accepted by all actors. These contents will be easily used by professionals through the app Noticeinfobox©. A pilot phase was conducted to generate the notices of the France Genomic Medicine Plan 2025, used for genetic examinations. This app Noticeinfobox© is a response to society's request to be an actor in its own healthcare and to adopt more ethical and responsible research.

Title: Vers un consentement plus éclairé - Rendre l'information accessible. Abstract: Trop souvent, les notices d'information proposées dans le cadre de recherches cliniques se réduisent à des documents réglementaires difficilement compréhensibles. Pourtant, les personnes concernées doivent avoir accès à une information transparente et loyale. Ces considérations ont motivé la création d'un groupe de travail pluridisciplinaire, piloté par le Collège des relecteurs de l'Inserm, associant les acteurs impliqués dans l'élaboration, l'évaluation et l'utilisation de ces notices d'information. Un ensemble de textes, pictogrammes et illustrations, adaptés aux personnes concernées, validés et facilement utilisables via une application a été créé. Une phase pilote, dans le cadre du plan France médecine génomique 2025, a permis de générer des notices simplifiées pour les examens génétiques. Dans cet article, nous présentons le travail réalisé par le groupe de travail « Notices d'information ¼ afin de répondre à la demande sociétale d'être acteur de son parcours de soin et de contribuer à une recherche plus éthique et responsable.

Treatment burden, adherence, and quality of life in children with daily GH treatment in France.

Objective: The objective of this study was to describe in a real-life setting the treatment burden and adherence and quality of life (QOL) of children treated with daily injections of growth hormone and their relationship with treatment duration. Design: This non-interventional, multicenter, cross-sectional French study involved children aged 3-17 years treated with daily growth hormone injections. Methods: Based on a recent validated dyad questionnaire, the mean overall life interference total score (100 = most interference) was described, with treatment adherence and QOL, using the Quality of Life of Short Stature Youth questionnaire (100 = best). All analyses were performed according to treatment duration prior to inclusion. Results: Among the 275/277 analyzed children, 166 (60.4%) had only growth hormone deficiency (GHD). In the GHD group, the mean age was 11.7 ± 3.2 years; median treatment duration was 3.3 years (interquartile range 1.8-6.4). The mean overall life interference total score was 27.7 ± 20.7 (95% CI (24.2; 31.2)), with non-significant correlation with treatment duration (P = 0.1925). Treatment adherence was good (95.0% of children reported receiving >80% of planned injections over the last month); it slightly decreased with treatment duration (P = 0.0364). Children's overall QOL was good (81.5 ± 16.6 and 77.6 ± 18.7 according to children and parents, respectively), but subscores of the coping and treatment impact domains were <50. Similar results were observed in all patients independently of the condition requiring treatment. Conclusions: This real-life French cohort confirms the treatment burden of daily growth hormone injections, as previously reported in an interventional study.

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).

Turner syndrome (TS; ORPHA 881) is a rare condition in which all or part of one X chromosome is absent from some or all cells. It affects approximately one in every 1/2500 liveborn girls. The most frequently observed karyotypes are 45,X (40-50%) and the 45,X/46,XX mosaic karyotype (15-25%). Karyotypes with an X isochromosome (45,X/46,isoXq or 45,X/46,isoXp), a Y chromosome, X ring chromosome or deletions of the X chromosome are less frequent. The objective of the French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins) is to provide health professionals with information about the optimal management and care for patients, based on a critical literature review and multidisciplinary expert consensus. The PNDS, written by members of the French National Reference Center for Rare Growth and Developmental Endocrine disorders, is available from the French Health Authority website. Turner Syndrome is associated with several phenotypic conditions and a higher risk of comorbidity. The most frequently reported features are growth retardation with short adult stature and gonadal dysgenesis. TS may be associated with various congenital (heart and kidney) or acquired diseases (autoimmune thyroid disease, celiac disease, hearing loss, overweight/obesity, glucose intolerance/type 2 diabetes, dyslipidemia, cardiovascular complications and liver dysfunction). Most of the clinical traits of TS are due to the haploinsufficiency of various genes on the X chromosome, particularly those in the pseudoautosomal regions (PAR 1 and PAR 2), which normally escape the physiological process of X inactivation, although other regions may also be implicated. The management of patients with TS requires collaboration between several healthcare providers. The attending physician, in collaboration with the national care network, will ensure that the patient receives optimal care through regular follow-up and screening. The various elements of this PNDS are designed to provide such support.