TY - JOUR
T1 - Heritable connective tissue disorders in childhood: 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 - Oosterlaan, Jaap
AU - Pediatric Heritable Connective Tissue Disorder study group
N1 - A complete list of the Pediatric Heritable Connective Tissue Study Group members appears in the Acknowledgements.
Funding information: SIA RAAK-PRO, Dutch Organization for Scientific Research (NWO), Grant/Award Number: SVB.RAAK>PRO02.007.
PY - 2022/7
Y1 - 2022/7
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 - Adolescent
KW - Connective Tissue
KW - Connective Tissue Diseases/genetics
KW - Ehlers-Danlos Syndrome/genetics
KW - Female
KW - Humans
KW - Joint Instability
KW - Male
KW - Marfan Syndrome/genetics
KW - Mental Health
KW - Quality of Life
KW - Skin Abnormalities
UR - http://www.scopus.com/inward/record.url?scp=85130769079&partnerID=8YFLogxK
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 -