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Heritable Connective Tissue Disorders in Childhood: Increased Fatigue, Pain, Disability and Decreased General Health

Heritable Connective Tissue Disorders (HCTD) show an overlap in the physical features that can evolve in childhood. It is unclear to what extent children with HCTD experience burden of disease. This study aims to quantify fatigue, pain, disability and general health with standardized validated quest...

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Autores principales: Warnink-Kavelaars, Jessica, de Koning, Lisanne E., Rombaut, Lies, Alsem, Mattijs W., Menke, Leonie A., Oosterlaan, Jaap, Buizer, Annemieke I., Engelbert, Raoul H. H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8229209/
https://www.ncbi.nlm.nih.gov/pubmed/34071423
http://dx.doi.org/10.3390/genes12060831
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author Warnink-Kavelaars, Jessica
de Koning, Lisanne E.
Rombaut, Lies
Alsem, Mattijs W.
Menke, Leonie A.
Oosterlaan, Jaap
Buizer, Annemieke I.
Engelbert, Raoul H. H.
author_facet Warnink-Kavelaars, Jessica
de Koning, Lisanne E.
Rombaut, Lies
Alsem, Mattijs W.
Menke, Leonie A.
Oosterlaan, Jaap
Buizer, Annemieke I.
Engelbert, Raoul H. H.
author_sort Warnink-Kavelaars, Jessica
collection PubMed
description Heritable Connective Tissue Disorders (HCTD) show an overlap in the physical features that can evolve in childhood. It is unclear to what extent children with HCTD experience burden of disease. This study aims to quantify fatigue, pain, disability and general health with standardized validated questionnaires. Methods. This observational, multicenter study included 107 children, aged 4–18 years, with Marfan syndrome (MFS), 58%; Loeys-Dietz syndrome (LDS), 7%; Ehlers-Danlos syndromes (EDS), 8%; and hypermobile Ehlers-Danlos syndrome (hEDS), 27%. The assessments included PROMIS Fatigue Parent–Proxy and Pediatric self-report, pain and general health Visual-Analogue-Scales (VAS) and a Childhood Health Assessment Questionnaire (CHAQ). Results. Compared to normative data, the total HCTD-group showed significantly higher parent-rated fatigue T-scores (M = 53 (SD = 12), p = 0.004, d = 0.3), pain VAS scores (M = 2.8 (SD = 3.1), p < 0.001, d = 1.27), general health VAS scores (M = 2.5 (SD = 1.8), p < 0.001, d = 2.04) and CHAQ disability index scores (M = 0.9 (SD = 0.7), p < 0.001, d = 1.23). HCTD-subgroups showed similar results. The most adverse sequels were reported in children with hEDS, whereas the least were reported in those with MFS. Disability showed significant relationships with fatigue (p < 0.001, r(s) = 0.68), pain (p < 0.001, r(s) = 0.64) and general health (p < 0.001, r(s) = 0.59). Conclusions. Compared to normative data, children and adolescents with HCTD reported increased fatigue, pain, disability and decreased general health, with most differences translating into very large-sized effects. This new knowledge calls for systematic monitoring with standardized validated questionnaires, physical assessments and tailored interventions in clinical care.
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spelling pubmed-82292092021-06-26 Heritable Connective Tissue Disorders in Childhood: Increased Fatigue, Pain, Disability and Decreased General Health Warnink-Kavelaars, Jessica de Koning, Lisanne E. Rombaut, Lies Alsem, Mattijs W. Menke, Leonie A. Oosterlaan, Jaap Buizer, Annemieke I. Engelbert, Raoul H. H. Genes (Basel) Article Heritable Connective Tissue Disorders (HCTD) show an overlap in the physical features that can evolve in childhood. It is unclear to what extent children with HCTD experience burden of disease. This study aims to quantify fatigue, pain, disability and general health with standardized validated questionnaires. Methods. This observational, multicenter study included 107 children, aged 4–18 years, with Marfan syndrome (MFS), 58%; Loeys-Dietz syndrome (LDS), 7%; Ehlers-Danlos syndromes (EDS), 8%; and hypermobile Ehlers-Danlos syndrome (hEDS), 27%. The assessments included PROMIS Fatigue Parent–Proxy and Pediatric self-report, pain and general health Visual-Analogue-Scales (VAS) and a Childhood Health Assessment Questionnaire (CHAQ). Results. Compared to normative data, the total HCTD-group showed significantly higher parent-rated fatigue T-scores (M = 53 (SD = 12), p = 0.004, d = 0.3), pain VAS scores (M = 2.8 (SD = 3.1), p < 0.001, d = 1.27), general health VAS scores (M = 2.5 (SD = 1.8), p < 0.001, d = 2.04) and CHAQ disability index scores (M = 0.9 (SD = 0.7), p < 0.001, d = 1.23). HCTD-subgroups showed similar results. The most adverse sequels were reported in children with hEDS, whereas the least were reported in those with MFS. Disability showed significant relationships with fatigue (p < 0.001, r(s) = 0.68), pain (p < 0.001, r(s) = 0.64) and general health (p < 0.001, r(s) = 0.59). Conclusions. Compared to normative data, children and adolescents with HCTD reported increased fatigue, pain, disability and decreased general health, with most differences translating into very large-sized effects. This new knowledge calls for systematic monitoring with standardized validated questionnaires, physical assessments and tailored interventions in clinical care. MDPI 2021-05-28 /pmc/articles/PMC8229209/ /pubmed/34071423 http://dx.doi.org/10.3390/genes12060831 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/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 (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Warnink-Kavelaars, Jessica
de Koning, Lisanne E.
Rombaut, Lies
Alsem, Mattijs W.
Menke, Leonie A.
Oosterlaan, Jaap
Buizer, Annemieke I.
Engelbert, Raoul H. H.
Heritable Connective Tissue Disorders in Childhood: Increased Fatigue, Pain, Disability and Decreased General Health
title Heritable Connective Tissue Disorders in Childhood: Increased Fatigue, Pain, Disability and Decreased General Health
title_full Heritable Connective Tissue Disorders in Childhood: Increased Fatigue, Pain, Disability and Decreased General Health
title_fullStr Heritable Connective Tissue Disorders in Childhood: Increased Fatigue, Pain, Disability and Decreased General Health
title_full_unstemmed Heritable Connective Tissue Disorders in Childhood: Increased Fatigue, Pain, Disability and Decreased General Health
title_short Heritable Connective Tissue Disorders in Childhood: Increased Fatigue, Pain, Disability and Decreased General Health
title_sort heritable connective tissue disorders in childhood: increased fatigue, pain, disability and decreased general health
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8229209/
https://www.ncbi.nlm.nih.gov/pubmed/34071423
http://dx.doi.org/10.3390/genes12060831
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