Evidence map›Paper›PMID 36909454›Full record

ArticleMolecular genetics and metabolism reports2023

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

M Mar Rovira-Remisa, Mónica Moreira, Paula Sol Ventura, Pablo Gonzalez-Alvarez, Núria Mestres, Fredzzia Graterol Torres, Clara Joaquín, Agustí Rodríguez-Palmero Seuma, Maria Del Mar Martínez-Colls, Ana Roche and 10 more

Abstract read
In one paragraph

Article in Molecular genetics and metabolism reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

20 authors.

M Mar Rovira-RemisaUnit of Inherited Metabolic Disorders and Pediatric Neurology, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona., Spain.
Mónica MoreiraDepartment of Psychiatry, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
Paula Sol VenturaInstitut d'Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP), Spain.
Pablo Gonzalez-AlvarezDepartment of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
Núria MestresUnit of Inherited Metabolic Disorders and Pediatric Neurology, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona., Spain.
Fredzzia Graterol TorresDepartment of Nephrology, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
Clara JoaquínUnit of Adults Inherited Metabolic Disorders, Department of Endocrinology, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
Agustí Rodríguez-Palmero SeumaUnit of Inherited Metabolic Disorders and Pediatric Neurology, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona., Spain.
Maria Del Mar Martínez-CollsUnit of Pediatric Pneumology, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
Ana RocheUnit of Pediatric Neurology, Department of Pediatrics, Hospital Universitari Parc Taulí, Sabadell, Spain.
Salvador Ibáñez-MicóUnit of Pediatric Neurology, Department of Pediatrics, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain.
Eduardo López-LasoPediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC, CIBERER, Córdoba, Spain.
María Jesús Méndez-HernándezUnit of Pediatric Infectious Diseases and Immunological Disorders, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
Marta MurilloUnit of Pediatric Endocrinology, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
Laura Monlleó-NeilaUnit of Inherited Metabolic Disorders and Pediatric Neurology, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona., Spain.
Elena Maqueda-CastelloteUnit of Inherited Metabolic Disorders and Pediatric Neurology, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona., Spain.
Mireia Del Toro RieraPediatric Neurology Department, Hospital Vall d'Hebron, Barcelona, Barcelona, Spain.
Ana Felipe-RuciánPediatric Neurology Department, Hospital Vall d'Hebron, Barcelona, Barcelona, Spain.
Maria Giralt-LópezDepartment of Psychiatry, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
Elisenda Cortès-SaladelafontUnit of Inherited Metabolic Disorders and Pediatric Neurology, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona., Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 ( 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.

Indexed as

AnxietyDepressionInherited metabolic diseaseQuality of lifeRare diseases

Identifiers

PMID36909454
PMCPMC9986135

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.