Centre of Expertise Applied Artificial Intelligence

Heritable connective tissue disorders in childhood

increased fatigue, pain, disability and decreased general health

Article

<p>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.</p><p>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).</p><p>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, rs = 0.68), pain (p < 0.001, rs = 0.64) and general health (p < 0.001, rs = 0.59).</p><p>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.</p>

Reference Warnink-Kavelaars, J., de Koning, L. E., Rombaut, L., Alsem, M. W., Menke, L. A., Oosterlaan, J., Buizer, A. I., Engelbert, R. H. H., & On Behalf Of The Pediatric Heritable Connective Tissue Disorders Study Group (2021). Heritable connective tissue disorders in childhood: increased fatigue, pain, disability and decreased general health. Genes, 12(6). https://doi.org/10.3390/genes12060831
Published by  Urban Vitality 28 May 2021

Publication date

May 2021

Author(s)

Jessica Warnink-Kavelaars
Lies Rombaut
Mattijs W Alsem
Leonie A Menke
Jaap Oosterlaan
Annemieke I Buizer
On Behalf Of The Pediatric Heritable Connective Tissue Disorders Study Group

Publications:

Research database