The Italian Registry of GH Treatment: electronic Clinical Report Form (e-CRF) and web-based platform for the national database of GH prescriptions.

BACKGROUND: In Italy, the utilization and the reimbursement of Growth Hormone (rGH) therapy by the National Health System (Servizio Sanitario Nazionale) are regulated by the "Note #39" included in the "Notes for the use of drugs" by the Italian Medicines Agency (AIFA), which are published in the Official Gazette, thus having the force of law. The "Note #39" establishes the diagnosis for which the reimbursement is granted and confirms the assignment of the national health surveillance on the use of GH therapy to the Italian National Institute of Health, requesting its computerization. AIM: The aim of this work was to realize a dedicated electronic Clinical Report Form based on the mandatory data requested by the Note #39 and allowing the online reporting of the rGH prescriptions by the regional accredited centers. RESULTS AND CONCLUSIONS: This interface is at the base of the national database of the Italian Registry of GH Treatment, which allows obtaining and managing correct and complete data to provide public health surveillance on GH therapy, both at national and local levels, necessary for policymakers decisions. In addition, this national database could be a useful instrument for improving knowledge about aspects of this treatment still under discussion.

Access to and quality of health and social care for rare diseases: patients' and caregivers' experiences.

People suffering from rare diseases, independently of the condition, often experience the same problems in receiving adequate health and social care. It is not clear how these problems differ in severity among different diseases and in different countries and how they change in time. In the framework of the NEPHIRD (Network of Public Health Institutions on Rare Diseases), a European project, funded by DG-SANCO (EU Commission), an effort was made to develop a simple but comprehensive tool to show patients' and/or caregivers' opinions about the quality and accessibility of health and social services. The self-filled questionnaire asks how often patients or caregivers had both negative and positive experiences about the quality and accessibility of health and social services and their opinion on their improvement, on 5-level scales. A pilot survey was carried out in several European Countries among members of Myasthenia Gravis, Neurofibromatosis, Prader Willi and Rett Syndrome volunteers' associations. Descriptive and comparative analyses were performed using Stata and Epi Info 2000. In total, 302 questionnaires were completed in France, Italy, Romania, Spain, Turkey and United Kingdom during 2004-05. In general, respondents thought that health care accessibility was worse than quality, and that social care and legal provisions were worse than health care, with some differences among countries. For all diseases, and for both patients and caregivers, the most frequent reported positive experiences were health professionals' kindness and readiness to help (all medians ranged from 3 to 5). As for the efforts for improvement made by public services in the last three years, the opinions were generally favourable. This study has several limitations. However the assessment tool that has been developed has some innovative and interesting features and may be considered a useful attempt to compare patients' and caregivers' experiences for a range of different diseases, countries and services, with respect to a rare disease programme.

[Accessibility and quality of Italian health and social services: the experiences of patients with neurofibromatosis type 1 and of their relatives]. / Accessibilità e qualità dei servizi socio-sanitari italiani: le esperienze dei pazienti con neurofibromatosi tipo 1 e dei loro familiari.

Opinions of patients and relatives about their experiences with health and social services were assessed in a pilot study. The study was carried out in collaboration with two patients' Associations of Neurofibromatosis, "Neurofibromatosi--Onlus" and "LINFA--Onlus". An ad-hoc questionnaire was developed by the Italian National Centre of Rare Diseases and was sent to the Responsibles of the two aforementioned patients' Associations. The Responsibles distributed the questionnaire to their members by mail. The questionnaire investigated, using 5-level Likert scales, the following topics: quality and accessibility of health services (diagnostic exams, pharmacological therapies, rehabilitation, psychological support), quality and accessibility of social services (school, vocational training, health information, information on legal matters and rights). Finally, the questionnaire investigated also opinions about improvements of public health and social services in the last three years. Overall, 79 out 144 questionnaires were filled by patients or their relatives. The most frequent negative experiences concerned vocational training and both health and legal information. The most frequent positive opinions were reported for the human relationships with health professionals. This pilot study seems to point out a promising way to investigate systematically opinions of patients suffering from rare diseases and their relatives.

[Accessibility and quality to health social services in Italy for the patients with rare diseases: the opinion of associations]. / Accessibilità e qualita dei servizi socio-sanitari italiani per i pazienti con malattie rare: il parere delle associazioni.

This paper concerns the first phase of a study about the perception of social and health needs of people with rare diseases. The study was performed by the National Center for Rare Diseases at the Italian National Institute of Health (Istituto Superiore di Sanità - ISS). The project wants to be an example of collaboration between the research and the association worlds. Responsible of Associations of Patients and their relatives were asked their opinion about the accessibility and quality of important features of health and social services (accessibility and quality of diagnostic, pharmacological, psychological and rehabilitative interventions, social support, school and vocational training, information that was given to relatives). An ad hoc questionnaire was developed through focus groups. The questionnaire was completed by 108 associations (26,5% of the associations thar are recorded in the ISS database). Average scores showed satisfaction only for some variables and a negative gradient north-south was observed. The most frequent complaints were about information, quality of school and job training services and availability of psychological support. The study showed an high level of dissatisfaction with availability, quality and integration health and social services.