ArticleBMJ open2020
Caring and living with Prader-Willi syndrome in Italy: integrating children, adults and parents' experiences through a multicentre narrative medicine research.
Article in BMJ open, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 3 of them syntheses that pooled it.
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Who cites it
17 citing papers in PubMed, 3 syntheses or guidelines pooled it, 31 citations in OpenAlex.
- The burden of illness in Prader-Willi syndrome: a systematic literature review.Orphanet journal of rare diseases · 2025Pooled it
- Children with a rare congenital genetic disorder: a systematic review of parent experiences.Orphanet journal of rare diseases · 2022Pooled it
- Pooled it
- Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development.Journal of intellectual disability research : JIDR · 2026Article
- Exploring the human experience of congenital aniridia: A narrative medicine approach.European journal of ophthalmology · 2026Observational
- Narratives unveil knowledge and awareness-related issue, reinforcing patients' self-identity in sickle cell disease.Orphanet journal of rare diseases · 2026Article
- Stigmatisation experiences in families with hereditary conditions: an exploratory study.Journal of community genetics · 2025Article
- Criteria to evaluate unmet health-related needs of persons living with rare diseases and their caregivers: rapid literature review and stakeholder consultations.Orphanet journal of rare diseases · 2025Review
- Assessment of Quality of Life and Psychological Well-Being in Italian Adult Subjects with Prader-Willi Syndrome Using the Health Survey Short Form and the Psychological General Well-Being Index Questionnaires.Healthcare (Basel, Switzerland) · 2025Article
- Pharmaceutical Humanities and Narrative Pharmacy: An Emerging New Concept in Pharmacy.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Psychological conditions of caregivers of adult subjects with Prader-Willi syndrome.Orphanet journal of rare diseases · 2024Article
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- Health Problems in Individuals With PWS Are Associated With Lower Quality of Life for Their Parents: A Snapshot in the Brazilian Population.Frontiers in pediatrics · 2022Article
- Care Pathway of RPE65-Related Inherited Retinal Disorders from Early Symptoms to Genetic Counseling: A Multicenter Narrative Medicine Project in Italy.Clinical ophthalmology (Auckland, N.Z.) · 2021Article
- Narrative medicine in pediatric medical education and patient care: A scoping review.Tzu chi medical journalReview
Corrections and comments
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Authors and funding
19 authors at 11 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesPrader-Willi syndrome (PWS) significantly impacts health-related quality of life; however, its relational and existential aspects remain unknown in Italian clinical and social debate. The project aimed to investigate the impact of PWS on illness experience through narrative medicine (NM) to understand the daily life, needs and resources of patients with PWS and their caregivers, and to furnish insights for clinical practice. DESIGN AND
settingThe project involved 10 medical centres of the Italian Network for Rare Diseases and PWS family associations and targeted underage and adult patients with PWS and their caregivers. Written interviews, composed by a sociodemographic survey and a narrative, were collected through the project's website. Three dedicated illness plots employed evocative and open words to facilitate individual expression and to encourage reflection. Narratives were analysed through NVivo software. Researchers discussed the results with the project's steering committee.
participantsTwenty-one children and adolescents and 34 adults with PWS joined the project, as well as 138 caregivers. A PWS diagnosis or the caregiving of a patient with PWS older than 5 years represented the eligibility criteria, as well as the willingness to share their illness experience by writing and the ability to communicate in Italian.
resultsThe analysis of narratives led to understanding the PWS social and relational issues concerning diagnosis and current management, PWS daily experiences and social contexts, PWS implications in the working sphere and participants' future perspectives. Narratives demonstrated that PWS management affects relationships and work-life balance and that social stigma remains present.
conclusionThe project represented the first effort to investigate the impact of PWS on illness experience in Italy through NM while considering the perspectives of patients with PWS and their caregivers. The findings indicated that a multiprofessional approach is fundamental to ensure adequate treatment and provided elements for its improvement.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.