Background: Cri du Chat syndrome (CdC) is a rare disease caused by the deletion on the short arm of the chromosome 5, with an incidence of 1:15,000 to 1:50,000 live-born infants. No study at international level has assessed the costs, Quality of Life (QoL) and Disability through standardized quantitative tools. The aim is to estimate economic costs related to CdC from a societal perspective, to assess the QoL and Disability in patients with CdC along with their caregivers in Italy. Methods: A cross-sectional study of patients with Cri du Chat in Italy was carried out. A cost of illness approach from a societal perspective was used to estimate cost, and a micro-costing method was adopted. The QoL was measured with EuroQol 5-domain (EQ-5D) questionnaire and Disability by using World Health Organization Disability Assessment Schedule 36 item (WHODAS 2.0). Results: A total of 76 questionnaires were collected from caregivers taking care of 40 adult patients and 36 minor patients. All patients need a carer and the principal caregiver is commonly informal carer or a family member (93%). The EQ-5D VAS score for patients is 65.5 (SD = 22.4) out of 100; while the most important compromised areas of QoL are usual activities and self-care. The overall WHODAS 2.0 score is 65% (0 = no disability; 100 = full disability). The average annual cost of a patient with Cri du Chat in our population is €87,856.24; the main cost item of patients with Cri du Chat syndrome is informal care (i.e., €76,981.69 yearly) since it constitutes the 87% of total costs. Results highlight the burden of CdC in terms of its impact on QoL and Disability for patients and caregivers in Italy, with a score much lower than that of general population. The disease is associated with considerable costs of informal care. Conclusions: Cri du Chat syndrome was found to be linked with a significant socioeconomic impact which is dominated by direct non-healthcare informal costs.

This report illustrates the design and results of an activity of surveillance proposed by the National Centre for Innovative Technologies in Public Health and the National Centre for Rare Diseases of the Istituto Superiore di Sanità with the aim of monitoring the state-of-use of technologies by people with frailty, disabilities, and rare diseases. The results of the surveillance activity reported in this report are as follows: (a) An international Webinar; (b) A Full report published by the Istituto Superiore di Sanità (ISS); (c) an electronic survey tool, for periodic monitoring; (d) an initial summary of the survey (15 September–30 November 2020), giving an overall picture relating to the state-of-use of technologies by the interviewed; (e) an understanding of the needs that emerged, causing reflection on the current state-of-the-art and offering important stimuli for all the stakeholders involved.

The increasingly complex and multidimensional care request, combined with the presence of increasingly aware and demanding patients, accentuates the need for new strategies to preserve health systems economic sustainability. Therefore, integration mechanisms reveal an essential condition for ensuring continuity of care. The paper reviews the main literature available on the integration of heal services and relates it to rare diseases. The literature identifies several system levers for the effective design and implementation of integrated care frameworks, namely: political support and commitment, governance, stakeholder engagement, organisational change, leadership, collaboration and trust, workforce education and training, patient empowerment, financing and incentives, ICT infrastructure and solutions, monitoring and evaluation system.

Population-level evidence on how different phases of assistive technology service delivery contribute to user satisfaction with assistive products remains limited, despite its importance for strengthening provision systems. This study investigates how different aspects of assistive technology service delivery influence user satisfaction with assistive products and their perceived usefulness. Drawing on data from 992 Italian respondents to the WHO rapid Assistive Technology Assessment (rATA) survey, hierarchical regression and mediation analyses were conducted to examine the relative contribution of pre- and post-delivery services (i.e., assessment and training, and maintenance and follow-up) to overall product satisfaction. Results showed that satisfaction with pre-delivery services (β = 0.571, p < 0.001) was the strongest predictor of product satisfaction, followed by post-delivery services (β = 0.280, p < 0.001). Together, both service dimensions explained nearly 60% of the variance in product satisfaction (R² = 0.595). Mediation analysis further revealed that satisfaction with pre-delivery services partially mediated the relationship between product satisfaction and perceived usefulness (β = 0.147, p < 0.001), accounting for 29% of the total effect. These findings suggest a complementary pattern, in which pre-delivery services may provide a foundation for positive user experiences, while post-delivery services contribute meaningfully to sustaining satisfaction and perceived usefulness. The results provide population-level insights that may support national reflections on how to strengthen assistive technology service delivery, while recognizing that both early- and later-stage service components play important and interdependent roles.