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

Authors

• Jill C. Handisides, Harvard Medical School
• Danielle Hollenbeck-Pringle, New England Research Institutes
• Karen Uzark, C.S. Mott Children's Hospital
• Felicia L. Trachtenberg, New England Research Institutes
• Victoria L. Pemberton, National Heart, Lung, and Blood Institute (NHLBI)
• Teresa W. Atz, Medical University of South Carolina
• Timothy J. Bradley, The Hospital for Sick Children
• Elizabeth Cappella, Children's Memorial Hospital
• Sylvia De Nobele, Universitair Ziekenhuis Gent
• Georgeann Keh Teng Groh, Washington University School of Medicine in St. Louis
• Michelle S. Hamstra, Cincinnati Children's Hospital Medical Center
• Rosalind Korsin, Children's Hospital of New York
• Jami C. Levine, Harvard Medical School
• Bergen Lindauer, The University of Utah
• Aimee Liou, Texas Children's Hospital
• Meghan K.Mac Neal, Icahn School of Medicine at Mount Sinai
• Larry W. Markham, Monroe Carell Jr. Children's Hospital at Vanderbilt
• Tonia Morrison, The Children's Hospital of Philadelphia
• Kathleen A. Mussatto, Children's Wisconsin
• Aaron K. Olson, Seattle Children's Hospital
• Mary Ella M. Pierpont, Children's Hospitals and Clinics of Minnesota
• Reed E. Pyeritz, University of Pennsylvania Perelman School of Medicine
• Elizabeth A. Radojewski, The Hospital for Sick Children
• Mary J. Roman, Weill Cornell Medical Center
• Mingfen Xu, Duke University School of Medicine
• Ronald V. Lacro, Harvard Medical School
• Gail Pearson, National Heart, Lung, and Blood Institute (NHLBI)
• Mario Stylianou, National Heart, Lung, and Blood Institute (NHLBI)

Abstract

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.

Publication Title

Journal of Pediatrics

Recommended Citation

Handisides, J., Hollenbeck-Pringle, D., Uzark, K., Trachtenberg, F., Pemberton, V., Atz, T., Bradley, T., Cappella, E., De Nobele, S., Groh, G., Hamstra, M., Korsin, R., Levine, J., Lindauer, B., Liou, A., Neal, M., Markham, L., Morrison, T., Mussatto, K., Olson, A., Pierpont, M., Pyeritz, R., Radojewski, E., Roman, M., Xu, M., Lacro, R., Pearson, G., & Stylianou, M. (2019). Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome. Journal of Pediatrics, 204, 250-255.e1. https://doi.org/10.1016/j.jpeds.2018.08.061