Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases.

Autor:	Rovira-Remisa MM; Unit of Inherited Metabolic Disorders and Pediatric Neurology, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona., Spain., Moreira M; Department of Psychiatry, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.; Universitat Autònoma de Barcelona, Campus Can Ruti, Badalona, Spain., Ventura PS; Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP), Spain.; Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona, Spain., Gonzalez-Alvarez P; Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona, Spain., Mestres N; Unit of Inherited Metabolic Disorders and Pediatric Neurology, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona., Spain., Graterol Torres F; Department of Nephrology, Hospital Universitari Germans Trias i Pujol, Badalona, Spain., Joaquín C; Unit of Adults Inherited Metabolic Disorders, Department of Endocrinology, Hospital Universitari Germans Trias i Pujol, Badalona, Spain., Seuma AR; Unit of Inherited Metabolic Disorders and Pediatric Neurology, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona., Spain., Del Mar Martínez-Colls M; Unit of Pediatric Pneumology, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona, Spain., Roche A; Unit of Pediatric Neurology, Department of Pediatrics, Hospital Universitari Parc Taulí, Sabadell, Spain., Ibáñez-Micó S; Unit of Pediatric Neurology, Department of Pediatrics, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain., López-Laso E; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC, CIBERER, Córdoba, Spain., Méndez-Hernández MJ; Unit of Pediatric Infectious Diseases and Immunological Disorders, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona, Spain., Murillo M; Unit of Pediatric Endocrinology, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona, Spain., Monlleó-Neila L; Unit of Inherited Metabolic Disorders and Pediatric Neurology, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona., Spain., Maqueda-Castellote E; Unit of Inherited Metabolic Disorders and Pediatric Neurology, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona., Spain., Del Toro Riera M; Pediatric Neurology Department, Hospital Vall d'Hebron, Barcelona, Barcelona, Spain., Felipe-Rucián A; Pediatric Neurology Department, Hospital Vall d'Hebron, Barcelona, Barcelona, Spain., Giralt-López M; Department of Psychiatry, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.; Universitat Autònoma de Barcelona, Campus Can Ruti, Badalona, Spain., Cortès-Saladelafont E; Unit of Inherited Metabolic Disorders and Pediatric Neurology, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona., Spain.; Universitat Autònoma de Barcelona, Campus Can Ruti, Badalona, Spain.
Jazyk:	angličtina
Zdroj:	Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2023 Jun; Vol. 35, pp. 100962. Date of Electronic Publication: 2023 Mar 06.
DOI:	10.1016/j.ymgmr.2023.100962
Abstrakt:	Introduction: 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). Methods: 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. Results: 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. Conclusions: 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. (© 2023 The Authors.)
Databáze:	MEDLINE
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