Διερεύνηση του επιπέδου παρεχόμενων υπηρεσιών υγείας, καθώς και των προσδοκιών των ασθενών ως προς τη δημιουργία ειδικών κέντρων αναφοράς για το σπάνιο γενετικό σύνδρομο Prader-Willi σε χώρες της Ευρωπαϊκής Ένωσης.

Μανωλιά, Σταματίνα Κ.

Master Thesis

Author

Μανωλιά, Σταματίνα Κ.

Date

2012-10-24

Abstract

The main objective of this dissertation is to analyze the data for a rare disease, namely Prader-Willi Syndrome (PWS) which was part of a European survey for 16 rare diseases in 22 European countries, organized and implemented by Eurordis (Rare Disease Europe) between the years 2006-2008. The results of this study were published in 2009, and the views of the patients themselves were presented in several workshops organized in many countries. Initially the role and research activities of Eurordis are presented, along with an introduction to the particular difficulties associated with rare diseases. Subsequently the genetic types and clinical characteristics of PWS are briefly described and diagnostic methods, as well as behavior and other management techniques of the syndrome are presented. Epidemiology findings are also included and are mainly characterized by the method of counting known cases of patients. Clinical findings coming from published international databases are compared and thus contribute to an improved understanding of this current survey data. After having set the framework for rare diseases and Prader-Willi in particular, a descriptive analysis of the data is given, mainly combining the specific disease data to the country specific data and thus giving a two dimensional view of the issues analyzed. This section is divided into three (3) parts: a. demographic and socioeconomic profile, b. medical and social needs of the patients and c. expectations regarding centers of reference for rare diseases. Finally, two topics of particular interest to the rare disease community are investigated, namely early diagnosis and the need for social services. The analysis here is performed using logistic regression, which relates each of these two dichotomous variables to a number of patient characteristics which are used as explanatory variables.