Literature DB >> 30270167

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

Jill C Handisides1, Danielle Hollenbeck-Pringle2, Karen Uzark3, Felicia L Trachtenberg2, Victoria L Pemberton4, Teresa W Atz5, Timothy J Bradley6, Elizabeth Cappella7, Sylvia De Nobele8, Georgeann Keh-Teng Groh9, Michelle S Hamstra10, Rosalind Korsin11, Jami C Levine1, Bergen Lindauer12, Aimee Liou13, Meghan K Mac Neal14, Larry W Markham15, Tonia Morrison16, Kathleen A Mussatto17, Aaron K Olson18, Mary Ella M Pierpont19, Reed E Pyeritz20, Elizabeth A Radojewski6, Mary J Roman21, Mingfen Xu22, Ronald V Lacro23.   

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.
Copyright © 2018 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  neurodevelopmental disorders; patient-reported symptoms

Mesh:

Substances:

Year:  2018        PMID: 30270167      PMCID: PMC6800200          DOI: 10.1016/j.jpeds.2018.08.061

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  40 in total

1.  Living with Marfan syndrome: coping with stigma.

Authors:  Kf Peters; Ka Apse; A Blackford; B McHugh; D Michalic; Bb Biesecker
Journal:  Clin Genet       Date:  2005-07       Impact factor: 4.438

2.  Revised diagnostic criteria for the Marfan syndrome.

Authors:  A De Paepe; R B Devereux; H C Dietz; R C Hennekam; R E Pyeritz
Journal:  Am J Med Genet       Date:  1996-04-24

3.  PedsQL 4.0: reliability and validity of the Pediatric Quality of Life Inventory version 4.0 generic core scales in healthy and patient populations.

Authors:  J W Varni; M Seid; P S Kurtin
Journal:  Med Care       Date:  2001-08       Impact factor: 2.983

4.  Satisfaction with life in adults with Marfan syndrome (MFS): associations with health-related consequences of MFS, pain, fatigue, and demographic factors.

Authors:  Gry Velvin; Trine Bathen; Svend Rand-Hendriksen; Amy Østertun Geirdal
Journal:  Qual Life Res       Date:  2016-01-04       Impact factor: 4.147

5.  Work participation in adults with Marfan syndrome: Demographic characteristics, MFS related health symptoms, chronic pain, and fatigue.

Authors:  Gry Velvin; Trine Bathen; Svend Rand-Hendriksen; Amy Østertun Geirdal
Journal:  Am J Med Genet A       Date:  2015-09-30       Impact factor: 2.802

6.  Fatigue in adults with Marfan syndrome, occurrence and associations to pain and other factors.

Authors:  Trine Bathen; Gry Velvin; Svend Rand-Hendriksen; Hilde Stendal Robinson
Journal:  Am J Med Genet A       Date:  2014-04-09       Impact factor: 2.802

7.  Quality of life and cognitive function in Fontan patients, a population-based study.

Authors:  Lars Idorn; Annette S Jensen; Klaus Juul; Dorthe Overgaard; Niels P Nielsen; Keld Sørensen; Jesper I Reimers; Lars Søndergaard
Journal:  Int J Cardiol       Date:  2013-04-28       Impact factor: 4.164

8.  The PedsQL as a pediatric patient-reported outcome: reliability and validity of the PedsQL Measurement Model in 25,000 children.

Authors:  James W Varni; Tasha M Burwinkle; Michael Seid
Journal:  Expert Rev Pharmacoecon Outcomes Res       Date:  2005-12       Impact factor: 2.217

9.  Health-related quality of life in Marfan syndrome: a cross-sectional study of Short Form 36 in 84 adults with a verified diagnosis.

Authors:  Svend Rand-Hendriksen; Heidi Johansen; Svein Ove Semb; Odd Geiran; Johan K Stanghelle; Arnstein Finset
Journal:  Genet Med       Date:  2010-08       Impact factor: 8.822

10.  Mental quality of life is related to a cytokine genetic pathway.

Authors:  Dounya Schoormans; Teodora Radonic; Piet de Witte; Maarten Groenink; Donija Azim; Rene Lutter; Barbara J M Mulder; Mirjam A G Sprangers; Aeilko H Zwinderman
Journal:  PLoS One       Date:  2012-09-25       Impact factor: 3.240

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  11 in total

Review 1.  A Review of Psychosocial Factors of Marfan Syndrome: Adolescents, Adults, Families, and Providers.

Authors:  Cory Nielsen; Ileana Ratiu; Mitra Esfandiarei; Angela Chen; Elif Seda Selamet Tierney
Journal:  J Pediatr Genet       Date:  2019-07-25

2.  Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism.

Authors:  Mousumi Bose; Jean-Baptiste Roullet; K Michael Gibson; William B Rizzo; Hana M Mansur; Alice McConnell; Carolyn A Hoffman; Melissa L DiBacco; Phillip L Pearl
Journal:  J Child Neurol       Date:  2021-08-31       Impact factor: 1.987

3.  Quality of life in patients with Marfan syndrome: a cross-sectional study of 102 adult patients.

Authors:  Caroline Andonian; Sebastian Freilinger; Stefan Achenbach; Peter Ewert; Ulrike Gundlach; Harald Kaemmerer; Nicole Nagdyman; Rhoia Clara Neidenbach; Lars Pieper; Jörg Schelling; Michael Weyand; Jürgen Beckmann
Journal:  Cardiovasc Diagn Ther       Date:  2021-04

Review 4.  Marfan syndrome.

Authors:  Dianna M Milewicz; Alan C Braverman; Julie De Backer; Shaine A Morris; Catherine Boileau; Irene H Maumenee; Guillaume Jondeau; Arturo Evangelista; Reed E Pyeritz
Journal:  Nat Rev Dis Primers       Date:  2021-09-02       Impact factor: 65.038

5.  A Baseline Measurement of Quality of Life in 322 Adults With Osteogenesis Imperfecta.

Authors:  Koert Gooijer; Arjan G J Harsevoort; Fleur S van Dijk; Hendrikje Rik Withaar; Guus J M Janus; Anton A M Franken
Journal:  JBMR Plus       Date:  2020-11-07

6.  Health-related quality of life in Marfan syndrome: a 10-year follow-up.

Authors:  Thy Thy Vanem; Svend Rand-Hendriksen; Cathrine Brunborg; Odd Ragnar Geiran; Cecilie Røe
Journal:  Health Qual Life Outcomes       Date:  2020-12-01       Impact factor: 3.186

Review 7.  A scoping review presenting a wide variety of research on paediatric and adolescent patients with Marfan syndrome.

Authors:  Ingeborg Beate Lidal; Trine Bathen; Heidi Johansen; Gry Velvin
Journal:  Acta Paediatr       Date:  2020-02-17       Impact factor: 2.299

8.  Marfan syndrome in adolescence: adolescents' perspectives on (physical) functioning, disability, contextual factors and support needs.

Authors:  Jessica Warnink-Kavelaars; Anita Beelen; Tine M H J Goedhart; Lisanne E de Koning; Frans Nollet; Mattijs W Alsem; Leonie A Menke; Raoul H H Engelbert
Journal:  Eur J Pediatr       Date:  2019-10-16       Impact factor: 3.183

9.  Male-female differences in quality of life and coping style in patients with Marfan syndrome and hereditary thoracic aortic diseases.

Authors:  Carlijn G E Thijssen; Daphne E Doze; Arjen L Gökalp; Janneke Timmermans; Jeannette B Peters; Laura H C Elbers-van de Ven; Niels van Royen; Johanna J M Takkenberg; Jolien W Roos-Hesselink; Roland R J van Kimmenade
Journal:  J Genet Couns       Date:  2020-06-10       Impact factor: 2.537

10.  How to Distinguish Marfan Syndrome from Marfanoid Habitus in a Physical Examination-Comparison of External Features in Patients with Marfan Syndrome and Marfanoid Habitus.

Authors:  Lidia Wozniak-Mielczarek; Michalina Osowicka; Alicja Radtke-Lysek; Magda Drezek-Nojowicz; Natasza Gilis-Malinowska; Anna Sabiniewicz; Maksymilian Mielczarek; Robert Sabiniewicz
Journal:  Int J Environ Res Public Health       Date:  2022-01-11       Impact factor: 3.390

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