Abstract
In this paper, we analyze data from the Italian National Register of Rare Diseases (NRRD) focusing, in particular, on the geo-temporal distribution of patients affected by neurofibromatosis type 1 (NF1, ICD9CM code 237.71). The aim is at deriving a corrected measure of incidence for the period 2007–2009 using a single source, and to provide NF1 prevalence estimates for the period 2001–2006 through the use of capture–recapture methods over two sources. In the first case, a reverse hazard estimator for the delay in diagnosis of NF1 is used to estimate the probability that a generic unit belonging to the population of interest has been registered by the archive of reference. For the second purpose, two-source capture–recapture methods have been used to estimate the number of NF1 prevalent units in Italy for the period 2001–2006, matching information provided by the NRRD and the national register of hospital discharge, Scheda di Dimissione Ospedaliera (in the following SDO), archives.
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