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The Epidemiology of Transition into Adulthood of Rare Diseases Patients: Results from a Population-Based Registry

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’ care and on the health services. Th...

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Autores principales: Mazzucato, Monica, Visonà Dalla Pozza, Laura, Minichiello, Cinzia, Manea, Silvia, Barbieri, Sara, Toto, Ema, Vianello, Andrea, Facchin, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6210512/
https://www.ncbi.nlm.nih.gov/pubmed/30309015
http://dx.doi.org/10.3390/ijerph15102212
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author Mazzucato, Monica
Visonà Dalla Pozza, Laura
Minichiello, Cinzia
Manea, Silvia
Barbieri, Sara
Toto, Ema
Vianello, Andrea
Facchin, Paola
author_facet Mazzucato, Monica
Visonà Dalla Pozza, Laura
Minichiello, Cinzia
Manea, Silvia
Barbieri, Sara
Toto, Ema
Vianello, Andrea
Facchin, Paola
author_sort Mazzucato, Monica
collection PubMed
description 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’ 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 2006–2016, 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.
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spelling pubmed-62105122018-11-02 The Epidemiology of Transition into Adulthood of Rare Diseases Patients: Results from a Population-Based Registry Mazzucato, Monica Visonà Dalla Pozza, Laura Minichiello, Cinzia Manea, Silvia Barbieri, Sara Toto, Ema Vianello, Andrea Facchin, Paola Int J Environ Res Public Health Article 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’ 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 2006–2016, 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. MDPI 2018-10-10 2018-10 /pmc/articles/PMC6210512/ /pubmed/30309015 http://dx.doi.org/10.3390/ijerph15102212 Text en © 2018 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Mazzucato, Monica
Visonà Dalla Pozza, Laura
Minichiello, Cinzia
Manea, Silvia
Barbieri, Sara
Toto, Ema
Vianello, Andrea
Facchin, Paola
The Epidemiology of Transition into Adulthood of Rare Diseases Patients: Results from a Population-Based Registry
title The Epidemiology of Transition into Adulthood of Rare Diseases Patients: Results from a Population-Based Registry
title_full The Epidemiology of Transition into Adulthood of Rare Diseases Patients: Results from a Population-Based Registry
title_fullStr The Epidemiology of Transition into Adulthood of Rare Diseases Patients: Results from a Population-Based Registry
title_full_unstemmed The Epidemiology of Transition into Adulthood of Rare Diseases Patients: Results from a Population-Based Registry
title_short The Epidemiology of Transition into Adulthood of Rare Diseases Patients: Results from a Population-Based Registry
title_sort epidemiology of transition into adulthood of rare diseases patients: results from a population-based registry
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6210512/
https://www.ncbi.nlm.nih.gov/pubmed/30309015
http://dx.doi.org/10.3390/ijerph15102212
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