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.

The first prevalence survey of nosocomial infections in the University Hospital Centre 'Mother Teresa' of Tirana, Albania.

A survey was conducted in the largest hospital in Albania to estimate the prevalence and risk factors for nosocomial infections (NIs). A one-day prevalence survey was carried out between October and November 2003 in medical, surgical and intensive care wards. Centers for Disease Control and Prevention definitions were used. Study variables included patient and hospital characteristics, surgical procedures, invasive devices, antibiotic treatment, microbiological and radiological examinations, infection signs and symptoms. Risk factors were determined using logistic regression. In all, 185 NIs were found in 163 of 968 enrolled patients. Urinary tract infections (33.0%), surgical site infections (24.3%), pneumonia (13.0%) and venous infections (9.2%) were the most frequent NIs. The prevalence of NIs was higher in intensive care units (31.6%) than in surgical (22.0%) and medical wards (10.3%). Overall, 132 NIs (71.4%) were confirmed by microbiological examination; the single most frequently isolated micro-organism was Staphylococcus aureus (18.2%). By means of logistic regression, the following independent risk factors were identified: age >40 years, length of hospital stay, 'trauma' diagnosis at admission, and invasive devices. Even though comparisons must be made with great caution, the prevalence of NIs was higher than in western European countries and in some developing countries.

[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.