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Background: in the field of rare diseases (RDs) most of the European studies on budget impact analysis of drugs that have been conducted often lay on theoretical assumptions and focus only on Orphan drugs (ODs). Objectives: we aimed to estimate the budget impact of specific drugs for non-oncological RDs, both ODs and non-ODs, using real-world data about patients residing in Veneto Region (Italy) and to describe its expenditure structure and dynamics. Methods: a population-based multi-source observational study was conducted using data from Regional administrative databases; an ad-hoc drugs’ list specific for RDs including both ODs and non-ODs and classifying them by ATC codes has been created. Results: In 2019, the total expenditure for drugs specific for RDs was EUR 97.2 million (6.6% of the total Regional budget). The RD drug list included 58 ATC codes, of which 15 ATC had an annual budget impact over EUR 1 million (“blockbuster drugs”). The most expensive treatment was a non-OD drug (Coagulation factor VIII). The two most represented therapeutical areas were the metabolic and the hematological ones. Conclusions: Cost analyses on RD high-cost drugs expenditure should consider any specific RD drug, not only ODs. Expenditure dynamics for RD drugs are peculiar showing “blockbuster drugs”. Some therapeutical areas seem to be lacking in the drug research field.

Background Perfluoroalkylated substances (PFAS) in serum are inversely associated with fetal growth. Small for gestational age (SGA) is a measure based on birth weight and gestational age at birth and represents a good indicator of fetal growth but it has been used only in a small number of studies. We examined the association between PFAS exposure and the risk of severe SGA in a PFAS contaminated area in the Veneto Region (North-East of Italy). Methods A retrospective cohort study has been developed including all singleton live births reported in the Veneto Region Birth Registry between 2003 and 2018 to mothers living in the contaminated and in a control area. We estimated the association between mothers’ area of residence and severe SGA using crude RR (and 95% CI) and stepwise logistic regression, including all the maternal characteristics. Results The study included 105,114 singleton live births. The occurence of severe SGA was 3.44% in the contaminated area and 2.67% in the control area. The multivariate analysis confirmed that living in the contaminated area significantly increased the odds of severe SGA (adjusted OR 1.27 (95% C.I. 1.16, 1.39)). Conclusions The findings suggest that living in a contaminated area by PFAS plays a role in affecting fetal growth and support the hypothesis that PFAS exposure is a risk factor for SGA. Individual data on exposure are needed to confirm the direct association.

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&rsquo, 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&ndash, 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 In Europe, people with chronic conditions causing disability and high burden of care are increasing. According to the social gradient theory, socio-economic (SE) disadvantage represents a risk for health. Aim of the study is to investigate whether, conversely, a chronic disease in the family increases the risk of SE disadvantage, not only for diagnosis and treatment costs, but also for the burden for the whole family, moreover affecting family …

Aniridia is a paradigm of the challenges posed to healthcare systems by childhood-onset rare diseases. The care of children with rare diseases presents peculiar aspects of complexity, due to the chronicity of these conditions and their disability spectrum, with different types of impairments and different severity levels, both within the same disease and the same patient across life. Recently, the provision of more comprehensive and effective care has been the aim of health policies specifically addressed to rare disease patients. The experience carried out in this field by the Veneto region (4.9 million inhabitants, north-east of Italy) is presented. An information system, accessed by all the different health professionals involved in patients’ care, has been developed. The system, adopted so far in other seven Italian Regions, allows patients’ recording, treatments’ prescription and provision and the formulation of care plans, according to the individual health care needs’ profile. The process of information sharing can effectively reduce the fragmentation of the care provided to these children and their families by a multiplicity of actors, medical and non-medical ones. Furthermore, it can ease the transition from paediatric to adult care, an emerging crucial issue in the care of children presenting special care needs, as children with aniridia.

Pervasive developmental disorders (PDDs) can be very difficult to diagnose in children and to communicate such a diagnosis to their parents. Families of children with PDD learn of their child's diagnosis long after the first symptoms are noted in the child's behavior.An area-based survey was conducted to assess all social and health care providers taking care of patients with PDDs in the Veneto Region (North-East Italy).Only 28% of health care providers arrived at a definite diagnosis when the child was in his/her first year of age, 51% when the child was 2-3 years old and 21% from age of 4 years and up. On average, the latency between the time of the diagnosis and its communication to the family was 6.9 months. However, a number of families did not ever have a diagnosis communicated to them. Sometimes, 68% of the providers did not communicate a PDDs diagnosis to patient's families, and 4% of them quite commonly.The well-known delay in making a diagnosis of PDDs has two distinct components: one relating to the difficulty of confirming a diagnosis of PDDs, the other, hitherto unrecognized, relating to the family being notified.

Purpose To study causal links between the visual, cognitive, and psychomotor outcomes of premature babies who are small for gestational age (SGA). Methods A cohort study of 17 SGA cases and 34 controls who were appropriate for gestational age (AGA) was carried out. The cases were all premature babies without any other pathology. All subjects underwent a visual, mental, and psychomotor evaluation at 1 year of age. Results Of the SGA cases, 41% had a “below normal” visual acuity versus 17.7% of the AGA controls. At 1 year of age the SGA babies showed an odds ratio of 18.73 for low visual acuity, 9.09 for low mental performance, and no significant risk for a decreased psychomotor performance. Conclusions In this small cohort of premature infants, the SGA babies were more prone to developing low visual performance and abnormal cognitive development.

The revolution in information technology has transformed the processes of collection, transmission, analysis, and storage of data, leading to the improvement of many large-scale systematic data-collection systems of health-related events. Familial adenomatous polyposis (FAP) represents a paradigmatic example of how the establishment of a data-collection system, starting from family tracing and evolving to more complex registration processes, increases knowledge on different aspects of the disease and ultimately can influence patients’ clinical management and professionals’ attitudes. Many years have passed since the establishment of the first polyposis registry at St Mark’s Hospital in London. An historical overview of FAP registries is presented, discussing potentials and limitations of population-based registries versus clinical registries. In the context of recently developed health policies on rare diseases, the experience of a registry monitoring FAP as well as other rare conditions, population-based, and at the same time with features of a clinical one, is presented. The value of FAP registries relies on their ability to provide a snapshot of aspects of disease as well as of its management, producing evidence and translating this into clinical practice. Our belief is that such registries, really patientcentered, should be developed as an integral part of the healthcare network, becoming connecting informative tools between vertical networks, namely centers of expertise, horizontal care networks, and other institutions and persons involved in the care of FAP patients.

Purpose To study long-term outcome of SBS on visual and cognitive functions. Methods Case series of 10 children (7 M, 3 F) with confirmed SBS has been examined and followed-up. All chldren underwent a fundus evaluation by indirect ophtalmoscopy and wide-field digital ophtalmic camera (RetCam II) in the acute phase and until retinal hemorrhage resorption. The assessment was repeated at follow-up combined with ocular motility evaluation, visual field (BEFIE test), visual acuity by preferential looking tecnique (teller acuity cards), refractometry, cognitive-behavioural evaluations (Griffiths scales, Child Behaviour Check List), and family stress measurement (Parenting Stress Index). Results Mean age at acute episode of SBS: 6 months (range 2-20). Mean age at last follow-up evaluation: 27.6 months (range 4.5-41). At last follow-up evaluation: 1 out of 6 had a decreased visual acuity (cortical visual impairment), 3 out of 6 had mild-severe visual field deficits, 3 out of 6 has strabismus. None of the cases showed significant refractive errors. Due to age or severity of impairment and delay in global development, in any of the cases we were able to perform a recognition acuity test by symbols or E-charts. Cognitive and behavioural assessment demonstrated global delay and impaiments in speech/language development and attention problems. Conclusion SBS is characterized by severe long-term sequelae both in visual and cognitive function. Several visual impairments are observed, mainly related to cortial injury of visuo-spatial area. Although follow-up is difficult due to family history, there is strong indication for global assessment until scholar age where other impairments are demonstrated.

To evaluate how Hospital Discharge Records (SDO) and Certificates of Delivery Care (CEDAP) can be utilized to determine the number of deliveries and births; to calculate indicators for monitoring mother-infant health status, the exposure to risk factors during pregnancy and the health care provided.CEDAP and SDO of all patients admitted to any hospital in the Veneto Region (4.7 million inhabitants, about 44,000 births) during the year 2003 were considered. An area-based study on deliveries and births, a retrospective cohort study on pregnancies, and a prospective cohort study on newborns up to the first year of age were performed to calculate health indicators. These indicators were compared to two official data sources: National Institute of Statistics (ISTAT) and Italian National Institute of Health (ISS).Descriptive indicators concerning mother-infant health status (conception, pregnancy, delivery, newborns and events during the first year of age).SDO provide highly accurate data on pregnancies, births and stillborns, which overlap with values reported by ISTAT Combining data from SDO and CEDAP with findings fom the process of tracking mothers and infants'cohorts, allows the calculation of many indicators on conception (n. 9), pregnancy (n. 8), delivery (n. 8), newborn (n. 15), and events during the first year of age (n. 6). In the Veneto Region the general fertility rate is 40.95% per hundred, with a relatively late mean age at delivery (32 years). Pregnant women undergoing prenatal invasive procedures are 23.5% and the caesarean section rate is 29%. Infants born to foreign mothers are 16%, whereas 2.5% are conceived through assisted reproduction techniques, 0.9% are very low birth weight, and 0.3% are extremely low birth weight; neonatal and infant mortality rates are 2.2% per hundred and 2.9% per hundred respectively.The proposed system is immediately feasible also at a local level, making reliable and informative data available to guide health policies.

Objective: The aim of this study was to analyze dentists' perceptions, attitudes, knowledge and experience about child abuse and neglect (CAN) in an area of northeast Italy and the factors affecting the recognition and reporting of CAN cases.Material and Methods: One hundred six dentists working in both public and private sectors in the provinces of Padua and Treviso were interviewed by a single operator. Descriptive and assessing association analyses were carried out.Results: Dentists' perceptions about CAN is low, and these professionals have a poor attitude toward confronting it according to the code of conduct and laws. Available information and education are also poor. Education affects the detection and the reporting of CAN cases in a relevant way. Female gender is another factor that affects the attitude and the perception of CAN.Conclusions: The results, which are consistent with other studies, show that there is a general lack of knowledge about CAN that prevents dentists from detecting and identifying suspected cases. Despite its frequent occurrence among dental patients, neglect is the least known and identified type of abuse. Education is the critical element in enhancing the ability of professionals to detect cases.

Background Although rare diseases have become a major public health issue, there is a paucity of population-based data on rare diseases. The aim of this epidemiological study was to provide descriptive figures referring to a sizable group of unrelated rare diseases. Methods Data from the rare diseases registry established in the Veneto Region of north-east Italy (population 4,900,000), referring to the years from 2002 to 2012, were analyzed. The registry is based on a web-based system accessed by different users. Cases are enrolled by two different sources: clinicians working at Centers of expertise officially designated to diagnose and care patients with rare diseases and health professionals working in the local health districts. Deaths of patients are monitored by Death Registry. Results So far, 19,547 patients with rare diseases have been registered, and 23% of them are pediatric cases. The overall raw prevalence of the rare diseases monitored in the population under study is 33.09 per 10,000 inhabitants (95% CI 32.56-33.62), whilst the overall incidence is 3.85 per 10,000 inhabitants (95% CI 3.67-4.03). The most commonly-recorded diagnoses belong to the following nosological groups: congenital malformations (Prevalence: 5.45/10,000), hematological diseases (4.83/10,000), ocular disorders (4.47/10,000), diseases of the nervous system (3.51/10,000), and metabolic disorders (2,95/10,000). Most of the deaths in the study population occur among pediatric patients with congenital malformations, and among adult cases with neurological diseases. Rare diseases of the central nervous system carry the highest fatality rate (71.36/1,000). Rare diseases explain 4.2% of general population Years of Life Lost (YLLs), comparing to 1.2% attributable to infectious diseases and 2.6% to diabetes mellitus. Conclusions Our estimates of the burden of rare diseases at population level confirm that these conditions are a relevant public health issue. Our snapshot of their epidemiology is important for public health planning purposes, going to show that population-based registries are useful tools for generating health indicators relating to a considerable number of rare diseases, rather than to specific conditions.