TY - JOUR
T1 - Heritable connective tissue disorders in childhood: Decreased health-related quality of life and mental health
T2 - Decreased health-related quality of life and mental health
AU - Warnink-Kavelaars, Jessica
AU - de Koning, Lisanne E.
AU - Rombaut, Lies
AU - Menke, Leonie A.
AU - Alsem, Mattijs W.
AU - van Oers, Hedy A.
AU - Buizer, Annemieke I.
AU - Engelbert, Raoul H. H.
AU - Pediatric Heritable Connective Tissue Disorder study group
AU - Oosterlaan, Jaap
N1 - Funding Information:
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. ,
Funding Information:
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.
Publisher Copyright:
© 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
PY - 2022/7/1
Y1 - 2022/7/1
N2 - 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.
AB - 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.
KW - Ehlers–Danlos syndromes
KW - Health-Related Quality of Life
KW - Loeys–Dietz syndrome
KW - Marfan syndrome
KW - childhood
KW - heritable connective tissue disorder
UR - https://www.scopus.com/pages/publications/85130769079
U2 - 10.1002/ajmg.a.62750
DO - 10.1002/ajmg.a.62750
M3 - Article
C2 - 35393672
SN - 1552-4825
VL - 188
SP - 2096
EP - 2109
JO - American journal of medical genetics. Part A
JF - American journal of medical genetics. Part A
IS - 7
ER -