Background: Despite the fact that a considerable number of patients diagnosed with childhood-onset rare diseases (RD) survive into adulthood, limited information is available on the epidemiology of this phenomenon, which has a considerable impact both on patients’ care and on the health services. This study describes the epidemiology of transition in a population of RD patients, using data from the Veneto Region Rare Diseases Registry (VRRDR), a web-based registry monitoring since 2002 a consistent number of RD in a defined area (4.9 million inhabitants). Methods: Longitudinal cohorts of patients born in the years 1988 to 1998 and enrolled in the VRRDR in their paediatric age were identified. Data referred to this group of patients, experiencing transition from paediatric to adult age during the years 2006–2016, are presented. Results: 2153 RD patients (44.1% females and 55.9% males) passed from childhood to adulthood in the study period, corresponding to a 3-fold increase from 2006 to 2016. The majority of these patients was affected by congenital anomalies (32.0%), by hematologic diseases (15.9%), eye disorders (12.1%) and neoplasms (7.9%). RD patients who experienced transition from paediatric age to adulthood represent the 9.2% of adult patients enrolled in the Registry at 31 December 2016. Conclusions: We described a subset of RD young adults experiencing transition into adulthood. The data reported can be considered as minimum values for estimating the size of this increasing population presenting specific transition needs. These figures are valuable for clinicians, patients and health planners. Public policy interventions are needed in order to promote dedicated care transition pathways in the broader framework of health policies devoted to RD.

Background: Estimates of rare disease (RD) population impact in terms of number of affected patients and accurate disease definition is hampered by their under-representation in current coding systems. This study tested the use of a specific RD codification system (ORPHAcodes) in five European countries/regions (Czech Republic, Malta, Romania, Spain, Veneto region-Italy) across different data sources over the period January 2019-September 2021. Results: Overall, 3133 ORPHAcodes were used to describe RD diagnoses, mainly corresponding to the disease/subtype of disease aggregation level of the Orphanet classification (82.2%). More than half of the ORPHAcodes (53.6%) described diseases having a very low prevalence (< 1 case per million), and most commonly captured rare developmental defects during embryogenesis (31.3%) and rare neurological diseases (17.6%). ORPHAcodes described disease entities more precisely than corresponding ICD-10 codes in 83.4% of cases. Conclusions: ORPHAcodes were found to be a versatile resource for the coding of RD, able to assure easiness of use and inter-country comparability across population and hospital databases. Future research on the impact of ORPHAcoding as to the impact of numbers of RD patients with improved coding in health information systems is needed to inform on the real magnitude of this public health issue.

Background: Nationwide studies described a reduction in preterm birth (PTB) during the Coronavirus disease 19 (COVID-19) pandemic, but this was not confirmed in others. Very few data are available on the trend of PTBs over a longer period, including the post-pandemic period, and on potential risk factors, especially those associated with social disparities. Objective: To investigate the trend in PTB rates and the influence of maternal risk factors in Italy from January 2018 to December 2022, based on 12 Regional Birth Registries covering 86.1% of Italian births. Methods: PTB trend was investigated by an interrupted time series analysis. We assessed the associations of potential risk factors with PTB (Poisson regressions) and calculated their population impact fractions (PIFs). Results: We studied 1,762,422 births; 7.25% were PTB. Before the pandemic, we observed a monthly decrease in PTB rate [−0.2% (95% CI: −0.3; −0.1)]; from July 2020 onwards, the average monthly level of PTBs was 5% lower than before (95% CI: −7.3; −2.7), with a flat trend until December 2022 [−0.02% (95% CI: −0.5; 0.5)]. Socio-economic maternal risk factors (low education, unemployment) and foreign nationality, whose risk ratios were 1.14 (95% CI: 1.04; 1.24), 1.08 (1.05; 1.12), and 1.17 (1.14; 1.21), respectively, showed a decreasing trend after pandemic; their impact on the decrease in PTBs was modest (PIFs between −2.4‰ and −4.2‰). Conclusions: The COVID-19 pandemic changed the pattern of PTB rates in Italy, lowering their average frequency and interrupting a previous decreasing trend. Changes in the trend of socio-economic maternal risk factors marginally explained this pattern.