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, …

Objectives: To conduct a scoping review to 1) describe findings and determinants of physical functioning in children during and/or after PICU stay, 2) identify which domains of physical functioning are measured, 3) and synthesize the clinical and research knowledge gaps. Data Sources: A systematic search …

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. …

Marfan syndrome (MFS) is a multisystemic, autosomal dominant connective tissue disorder that occurs de novo in 25%. In many families, parent and child(ren) are affected, which may increase distress in parents. To assess distress, 42 mothers (29% MFS) and 25 fathers (60% MFS) of 43 affected children, …

Although essential for providing optimal adolescent patient support, knowledge of the impact of Marfan syndrome in adolescence is limited. To explore adolescents’ perceived impact of Marfan syndrome on (physical) functioning (activities, participation), disability (limitations, restrictions), contextual …