Caring and living with Prader-Willi syndrome in Italy: integrating children, adults and parents’ experiences through a multicentre narrative medicine research

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.

Pediatric growth hormone treatment in Italy: A systematic review of epidemiology, quality of life, treatment adherence, and economic impact

“…Twenty-five articles were excluded after full-text screening, while 25 articles were included in the final analysis. A list of excluded studies along with reasons for exclusion is provided in S2 Table . Among the 25 included studies, 9 studies [7,13,14,17,19,25,[28][29][30] were used to address the research question 1 (epidemiology), 10 studies [6, 8-12, 18, 20, 22, 23] the research question 2 (adherence), 5 studies [15,16,21,26,28] the research question 3 (economic impact), and 4 studies [8,21,24,27] the research question 4 (quality of life); three studies [8,21,28] contributed for more than one research question. The literature selection process is depicted in the Fig 1…”

Health Problems in Individuals With PWS Are Associated With Lower Quality of Life for Their Parents: A Snapshot in the Brazilian Population

“…Amaro et al ( 53 ) reported that physical training reduces complaints of behavioral problems by the parents of children with PWS in a case study. Thus, it is possible to that an appropriate intervention program could promote a general improvement in health that leads to a reduction in behavioral problems ( 73 , 74 ). However, more studies are needed to confirm this hypothesis.…”

Mapping the evidence of multidimensional health approaches in treating individuals with Prader–Willi Syndrome: A scoping review protocol

“…For example, evidence on integrated clinical management of PWS individuals applying professionals from various disciplines 5 and integrating the experiences caring and living of PWS persons and their families through research and cohesive treatment modalities. 19 It will also show appropriate timelines to intervene, and suitable intervention approaches to ensure effectiveness as the transition in clinical features according to age and treatment is imperative in PWS. It will also highlight the most appropriate interventions to ensure clinical effectiveness (eg, medication trials for hyperphagia and food-related behaviours in PWS).…”