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

Genes

卷:12

Lisanne E. de Koning¹  Lies Rombaut²  Leonie A. Menke³  Jessica Warnink-Kavelaars⁴  on behalf of the Pediatric Heritable Connective Tissue Disorders Study Group⁴  Annemieke I. Buizer⁴  Mattijs W. Alsem⁴  Raoul H. H. Engelbert⁴  Jaap Oosterlaan⁵ 

[1] Center of Expertise Urban Vitality, Faculty of Health, Amsterdam University of Applied Sciences, Tafelbergweg 51, 1105 BD Amsterdam, The Netherlands;

[2] Center of Medical Genetics, Ghent University Hospital, Corneel Heymanslaan 10, 9000 Ghent, Belgium;

[3] Department of Pediatrics, Emma Children’s Hospital, University of Amsterdam, Amsterdam UMC, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands;

[4] Department of Rehabilitation Medicine, Amsterdam Movement Sciences, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands;

[5] Emma Neuroscience Group, Amsterdam Reproduction & Development, Department of Pediatrics, Emma Children’s Hospital, University of Amsterdam, Amsterdam UMC, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands;

关键词: Heritable Connective Tissue Disorders;    Marfan syndrome;    Ehlers-Danlos syndromes;    hypermobile Ehlers-Danlos syndrome;    Loeys-Dietz syndrome;    fatigue;   

DOI  :  10.3390/genes12060831

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown