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

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.

Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study

“…Patients with an impaired exercise capacity reached the VAT earlier, suggesting a higher degree of muscular deconditioning. Children and adolescents with MFS report increased pain and fatigue, and limited participation in activities and daily life, compared with their healthy peers (22,(30)(31)(32)(33). The same complaints are reported in adults with MFS, resulting in impaired HRQoL (11,17).…”

“…Only a few studies have evaluated HRQoL in the pediatric MFS population (19)(20)(21)(22). The results of these studies are sometimes divergent and di cult to compare notably because of differing scales used to measure HRQoL.…”

“…In these adult studies, psychological and social factors were more strongly correlated with HRQoL than factors related to the severity of the disease. Conversely, the few studies that have evaluated HRQoL in children and adolescents with MFS (19)(20)(21)(22) show divergent results, with normal or impaired HRQoL in children with MFS, and were di cult to compare, notably because of different scales used to measure HRQoL. In these pediatric studies, as in most adult studies, the lack of systematic molecular diagnosis of MFS makes any genotype-phenotype correlation analysis impossible.…”

Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study

“…In these adult studies, psychological and social factors were more strongly correlated with HRQoL than factors related to the severity of the disease. Conversely, the few studies that have evaluated HRQoL in children and adolescents with MFS [ 19 – 22 ] show divergent results, with normal or impaired HRQoL in children with MFS, and were difficult to compare, notably because of different scales used to measure HRQoL. In these pediatric studies, as in most adult studies, the lack of systematic molecular diagnosis of MFS makes any genotype–phenotype correlation analysis impossible.…”

Сomprehensive restorative treatment of posture disorders in children with connective tissue dysplasia

“…Гипермобильность суставов, неправильная осанка в раннем детском возрасте являются базисными симптомами ДСТ [1,19]. У детей более распространены недифференцированные формы ДСТ, которые диагностируются с помощью фенотипических признаков, не укладывающихся ни в одну из типичных форм патологии (синдром Элерса-Данлоса, синдром Марфана, несовершенный остеогенез) [20,21]. Патологические изменения со стороны позвоночника (плоская спина, круглая спина, идиопатический сколиоз) чаще выявляются у детей.…”