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

Journal: The Journal Of Pediatrics

Objective: To assess health-related quality of life (HRQOL) in a large multicenter cohort of children and young adults with Marfan syndrome 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 Marfan syndrome (5-25 years). PedsQL scores were compared with healthy population norms. The impact of treatment arm (atenolol vs losartan), severity of clinical features, and number of patient-reported symptoms on HRQOL was assessed by general linear models.

Results: Mean PedsQL scores in children (5-18 years) with Marfan syndrome were lower than healthy population norms for physical (P ≤ .003) and psychosocial (P < .001) domains; mean psychosocial scores for adults (19-25 years) were greater than healthy norms (P < .001). HRQOL across multiple domains correlated inversely with frequency of patient-reported symptoms (r = 0.30-0.38, P < .0001). Those <18 years of age with neurodevelopmental disorders (mainly learning disability, attention-deficit/hyperactivity disorder) had lower mean PedsQL scores (5.5-7.4 lower, P < .04). A multivariable model found age, sex, patient-reported symptoms, and neurodevelopmental disorder 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 Marfan syndrome were at high risk for impaired HRQOL. Patient-reported symptoms and neurodevelopmental disorder, but not treatment arm or severity of Marfan syndrome-related physical findings, were associated with lower HRQOL.

Jill Handisides, Danielle Hollenbeck Pringle, Karen Uzark, Felicia Trachtenberg, Victoria Pemberton, Teresa Atz, Timothy Bradley, Elizabeth Cappella, Sylvia De Nobele, Georgeann Groh, Michelle Hamstra, Rosalind Korsin, Jami Levine, Bergen Lindauer, Aimee Liou, Meghan K Neal, Larry Markham, Tonia Morrison, Kathleen Mussatto, Aaron Olson, Mary Ella Pierpont, Reed Pyeritz, Elizabeth Radojewski, Mary Roman, Mingfen Xu, Ronald Lacro
Relevant Conditions

Marfan Syndrome