Heritable connective tissue disorders in childhood: Decreased health-related quality of life and mental health

Jessica Warnink-Kavelaars, Lisanne E. de Koning, Lies Rombaut, Leonie A. Menke, Mattijs W. Alsem, Hedy A. van Oers, Annemieke I. Buizer, Raoul H. H. Engelbert, Jaap Oosterlaan, Pediatric Heritable Connective Tissue Disorder study group

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Abstract

The psychosocial consequences of growing up with Heritable Connective Tissue Disorders (HCTD) are largely unknown. We aimed to assess Health-Related Quality of Life (HRQoL) and mental health of children and adolescents with HCTD. This observational multicenter study included 126 children, aged 4–18 years, with Marfan syndrome (MFS, n = 74), Loeys–Dietz syndrome (n = 8), molecular confirmed Ehlers–Danlos syndromes (n = 15), and hypermobile Ehlers–Danlos syndrome (hEDS, n = 29). HRQoL and mental health were assessed through the parent and child-reported Child Health Questionnaires (CHQ-PF50 and CHQ-CF45, respectively) and the parent-reported Strengths and Difficulties Questionnaire. Compared with a representative general population sample, parent-reported HRQoL of the HCTD-group showed significantly decreased Physical sum scores (p < 0.001, d = 0.9) and Psychosocial sum scores (p = 0.024, d = 0.2), indicating decreased HRQoL. Similar findings were obtained for child-reported HRQoL. The parent-reported mental health of the HCTD-group showed significantly increased Total difficulties sum scores (p = 0.01, d = 0.3), indicating decreased mental health. While the male and female MFS- and hEDS-subgroups both reported decreased HRQoL, only the hEDS-subgroup reported decreased mental health. In conclusion, children and adolescents with HCTD report decreased HRQoL and mental health, with most adverse outcomes reported in children with hEDS and least in those with MFS. These findings call for systematic monitoring and tailored interventions.
Original languageEnglish
Pages (from-to)2096-2109
JournalAmerican Journal of Medical Genetics - Part A
Volume188
Issue number7
DOIs
Publication statusPublished - Jul 2022

Funding

We thank the parents, children, and adolescents who participated in this study. We are grateful to SIA RAAK‐PRO, part of the Dutch Organization for Scientific Research, for funding this project (NWO; SVB.RAAK>PRO02.007), which is part of a 5‐year research grant of the project “Follow You—a follow‐up program on physical, psychosocial functioning and participation in children and adolescents with (Heritable) Connective Tissue Disorders.” We thank the Clinical Research Unit Amsterdam UMC and Dr. H. Maurice‐Stam for their statistical advise. We also acknowledge the members of the Pediatric Heritable Connective Tissue Disorders study group: Marieke J. H. Baars Rosa de Boer, Eelco Dulfer, Yvonne Hilhorst‐Hofstee, Marlies J. E. Kempers, Ingrid P. C. Krapels, Bart L. Loeys, R. van der Looven, Fransiska Malfait, Laura Muino Mosquera, Annelies E. van der Hulst, Marion A. J. van Rossum, and Femke Stoelinga as well as the Dutch Network Marfan and related disorders, the European Reference Network Skin—Mendelian Connective Tissue Disorders and both the Marfan and Ehlers–Danlos patient associations for the productive discussions. , We thank the parents, children, and adolescents who participated in this study. We are grateful to SIA RAAK-PRO, part of the Dutch Organization for Scientific Research, for funding this project (NWO; SVB.RAAK>PRO02.007), which is part of a 5-year research grant of the project “Follow You—a follow-up program on physical, psychosocial functioning and participation in children and adolescents with (Heritable) Connective Tissue Disorders.” We thank the Clinical Research Unit Amsterdam UMC and Dr. H. Maurice-Stam for their statistical advise. We also acknowledge the members of the Pediatric Heritable Connective Tissue Disorders study group: Marieke J. H. Baars, Rosa de Boer, Eelco Dulfer, Yvonne Hilhorst-Hofstee, Marlies J. E. Kempers, Ingrid P. C. Krapels, Bart L. Loeys, R. van der Looven, Fransiska Malfait, Laura Muino Mosquera, Annelies E. van der Hulst, Marion A. J. van Rossum, and Femke Stoelinga as well as the Dutch Network Marfan and related disorders, the European Reference Network Skin—Mendelian Connective Tissue Disorders and both the Marfan and Ehlers–Danlos patient associations for the productive discussions.

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