Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases
Rovira-Remisa, M. Mar (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Moreira, Mónica (Universitat Autònoma de Barcelona)
Ventura-Wichner, Paula S (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Gonzalez-Alvarez, Pablo (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Mestres, Núria (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Graterol Torres, Fredzzia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Joaquín, Clara (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Rodríguez-Palmero, Agustí (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Martínez-Colls, Maria del Mar (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Roche, Ana (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT))
Ibáñez-Micó, Salvador (Hospital Universitario Virgen de la Arrixaca (Múrcia))
López-Laso, Eduardo (Instituto Maimónides de Investigación Biomédica de Córdoba)
Méndez-Hernández, María Jesús (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Murillo-Vallés, Marta (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Monlleó-Neila, Laura (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Maqueda-Castellote, Elena (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Del Toro, Mireia (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Felipe-Rucián, Ana (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Giralt López, Maria (Universitat Autònoma de Barcelona)
Cortès-Saladelafont, Elisenda (Universitat Autònoma de Barcelona)

Date:	2023
Abstract:	The Covid-19 pandemic soon became an international health emergency raising concern about its impact not only on physical health but also on quality of life and mental health. Rare diseases are chronically debilitating conditions with challenging patient care needs. We aimed to assess the quality of life and mental health of patients with rare diseases in Spain, with a special focus on inherited metabolic disorders (IMD). A prospective case-control study was designed, comparing 459 patients suffering from a rare disease (including 53 patients with IMD) and 446 healthy controls. Quality of life (QoL) and mental health were assessed using validated scales according to age: KINDL-R and the Pediatric Symptom Checklist (PSC) for children and the WhoQoL-Bref questionnaire, GAD and PHQ-9 in adults. First, children and adults (but not adolescents) with IMD showed greater psychological effects than controls (p = 0. 022, p = 0. 026 respectively). Second, when comparing QoL, only adult patients with IMD showed worse score than controls (66/100 vs 74,6/100 respectively, p = 0. 017). Finally, IMD had better quality of life than other rare neurological and genetic diseases (p = 0. 008) or other rare diseases (p < 0. 001 respectively) but similar alteration of the mental status. Our data show that the pandemic had a negative impact on mental health that is more evident in the group of patients with IMD. Young age would behave as a protective factor on the perception of QoL. Furthermore, patients with IMD show a better QoL than other rare diseases.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Rare diseases ; Quality of life ; Anxiety ; Depression ; Inherited metabolic disease
Published in:	Molecular Genetics and Metabolism Reports, Vol. 35 (march 2023) , p. 100962, ISSN 2214-4269

DOI: 10.1016/j.ymgmr.2023.100962
PMID: 36909454

8 p, 1.3 MB

The record appears in these collections:
Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut d'Investigació en Ciencies de la Salut Germans Trias i Pujol (IGTP)
Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Parc Taulí Research and Innovation Institute (I3PT
Articles > Research articles
Articles > Published articles