Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome

Abstract

Objective To assess health-related quality of life (HRQOL) in a large multicenter cohort of children and young adults with Marfan syndrome (MFS) participating in the Pediatric Heart Network Marfan Trial. Study design The Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales were administered to 321 subjects with MFS (5–25 years). PedsQL scores were compared with healthy population norms. The impact of treatment arm (atenolol versus losartan), severity of clinical features, and number of patient-reported symptoms (PRS) on HRQOL was assessed by general linear models. Results Mean PedsQL scores in children (5–18 years) with MFS were lower than healthy population norms for physical (P ≤ .003) and psychosocial (P<0.001) domains; mean psychosocial scores for adults (19–25 years) were higher than healthy norms (P<0.001). HRQOL across multiple domains correlated inversely with frequency of PRS (r=0.30–0.38, P<0.0001). Those <18 years of age with neurodevelopmental disorders (ND, mainly learning disability, attention deficit disorder and/or hyperactivity) had lower mean PedsQL scores (5.5–7.4 lower, P<0.04). A multivariable model found age, sex, PRS, and ND to be independent predictors of HRQOL. There were no differences in HRQOL scores by treatment arm, aortic root z-score, number of skeletal features, or presence of ectopia lentis. Conclusions Children and adolescents with MFS were at high risk for impaired HRQOL. PRS and ND, but not treatment arm or severity of MFS-related physical findings, were associated with lower HRQOL.

Systematic review of quality of life in persons with hereditary thoracic aortic aneurysm and dissection diagnoses

“…None of the three studies found that medical severity of MFS were associated to decreased QoL. The largest study found that the patients‐reported symptoms and neurodevelopmental disorders were associated to lower QoL. This study claim that symptoms such as pain, fatigue, psychosocial distress and learning disability may have greater impact on QoL than the objective biomedical findings.…”

“…The diagnosis was either self‐reported or not described in the study. Five studies reported only on patients with MFS according to Ghent 1 nosology. Five studies included only patients assessed according to the revised Ghent nosology (Ghent 2).…”

“…Three studies recruited although both clinic and the Marfan Foundation, one study recruited by the GenTac register,one announced for volunteers on a web‐site and one study did not describe the recruiting process. Six studies had more than 200 participants but the respondents probably represent only a small percentage of the estimated national Marfan population. In most studies, the response rate was low.…”

“…Three studies used the Satisfaction with Life Scale (SWLS), one the Ferrans and Power Quality of life Index, cardiac version (QLI, cardiac III), and one used the Ferrans QLI . Two of the studies with children with MFS used the Pediatric Quality of Life Inventory (PedsQL) and one study used KINDL‐R Questionnaire . Four studies emphasize the importance of developing disease‐specific scales for measuring the specific influence of the disease on QoL in these conditions.…”

“…Most studies had thoroughly described factors (eg, confounders) that may negatively impact the credibility of their study, but in seven studies the limitations of the study were not mentioned. Omitting information about the study's potential limitations may decrease the credibility of the study.…”