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.

Background: The management of chronic diseases, particularly in children, requires an integrated physical and psychological approach to both sick children and their family. This is the case of Cystic Fibrosis (CF), a complex genetic chronic disease, where, a comprehensive evaluation of the emotional impact and an effective multidimensional approach are indicated. Aim: This study investigates on parenting stress in children and adolescents with CF and its determinants related to parents, children and the disease severity. Methods: The study involved 34.04% adult males and 65.96% adult females (range 21-55 years) and 47 children with CF, 54.35% males and 45.65% females (range 1-17 years). The data were obtained through a Parenting Stress Index -Short Form (PSI-SF) questionnaire. According to the PSI-SF scoring system, three types of stress were detected: a typical stress pattern (normal), a high stress pattern (increased) and a defensive response, which may be considered as a high stress feature in children which requires monitoring and clinical evaluation. Results: This study shows a significant presence of stress in females (60.23%), of subject married (84.62%), unemployed (69.23%) and with education level such as "middle School" (61.54%). Concerning children of parents with high stress, it resulted most frequent children with one sibling (53.85%). Finally, by univariate analysis, it resulted a significant positive correlation between parenting stress and disease degree of children. Instead by multivariate analysis, we found that the variables: Number of siblings and Birth order were a significant positive and negative predictor of parenting stress respectively. Conclusion: An increased stress level was detected in less than one third of parents of subjects with CF. These data may be related to the psychological support which is part of the routine management of CF care team. However, as children's features seem to act as a determinant of stress more than parental ones, the parental-child dysfunction should be the target for further integrated interventions.

Background: Healthcare rehabilitator skills can be grouped into hard and soft skills. Hard skills are specific and teachable, which can be defined and measured, while soft skills are less tangible and more difficult to quantify. The aim of this study is to investigate the level of knowledge of soft skills among Italian healthcare rehabilitators, and how they were acquired.Design and Methods: Two hundred healthcare rehabilitators, who worked in Southern Italy were enrolled from September 1st to October 31st 2017, and interviewed with Computer-Assisted-Web-Interview (CAWI) software, to assess their level of soft skills.Results: Healthcare rehabilitators showed significant satisfaction with university education (59.5%), particularly for theoretical training (64%), while significant dissatisfaction was found for technical-practical training (63.5%), training in patients’ family management (66.5%) and stages participation to improve soft skills (59%). Dissatisfied rehabilitators were found for university education of soft skills (59%), particularly for interpersonal relationships with patients family (66.5%) and technical-practical train in(63.5%). Women considered the training courses about soft skills acquisition more useful than men (43.8%).Conclusions: Healthcare rehabilitator training is lacking in the teaching of both technical-practical and soft skills. It is striking that in a healthcare profession like that of the rehabilitator, where practical and empathic skills are fundamental in the relationship with the patients, such skills are not treated in analogously with theoretical training.

The "born to read" initiative entails a dialogic reading to children in poor socio-economical conditions aimed at fostering cognitive and relational skills. Reading is professionally delivered by experts to promote psycho-social development of children and their parents. In this study the project was extended to include children positive at early screening for hearing impairment. A total of 26 children were included and 14 parents were taught to read aloud and emphatically. Reading session were delivered for at least 10 minutes at least 3 times/week, usually at bedtime, for one year. The Griffiths scale were applied to explore the expressive and receptive language skills (Scale C) and eye and hand coordination (Scale D), as measures of linguistic and neurocognitive skills. Program sustainability and reactions by the parents were also investigated. All 14 families successfully received the training, becoming capable of reading aloud and emphatically and provided reading sessions for the entire duration of the study. Children receiving the intervention performed slightly better than controls and those who were exposed to increased number of sessions, performed even better although the differences with controls were not significant. Parents enjoyed reading to their children. They expressed satisfaction and gratitude for being able to play an active and productive role in children rehabilitation. The results of this pilot study suggest that the born to read initiative may be considered in adjunct to medical and psychological interventions to enhance the benefits of early screening of hearing function.

Permanent childhood hearing impairment (PCHI) represents the most frequent sensory pathology at birth. PCHI has a relevant psychological impact on the life of both the affected children and their families. Thus, the aim of this work is to explore the degree of parental distress felt by mothers of a deaf or hard-of-hearing child, to determine if this stress is associated with variables related to the children’s health (e.g., the severity of hearing loss, presence of other conditions, difficulty with treatment options, difficulty with rehabilitation) or family characteristics such as socio-economic and educational status. The study used the Parenting Stress Index–Short Form (PSI-SF) questionnaire administered to mothers. The results were analyzed in relation to variables such as parents’ education level, number of children, severity of hearing loss, presence of other chronic conditions, presence of cognitive delay, familiarity with hearing loss, time of diagnosis, use of prosthetics, and start in a rehabilitation program. The data indicate a correlation between maternal stress levels and low-educational levels, as well as the presence of congenital infections and cognitive delay. These results highlight the need for a comprehensive physical and psychological approach for hearing-impaired children, as stress factors can affect the adherence to effective rehabilitation.