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01-10-2016 | Original Research

Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia

Authors: Kimberly Splinter, Anna-Kaisa Niemi, Rachel Cox, Julia Platt, Monisha Shah, Gregory M. Enns, Mureo Kasahara, Jonathan A. Bernstein

Published in: Journal of Genetic Counseling | Issue 5/2016

Abstract

An understanding of health related quality of life (HRQoL) in children and families affected by methylmalonic acidemia (MMA) is important in planning counseling and therapeutic intervention. Liver transplantation (LT) is used as a treatment for MMA; however, its risks and benefits continue to be investigated. The purpose of this study was twofold: (1) to measure HRQoL in children and families affected by MMA using the Pediatric Quality of Life Inventory (PedsQL™) parent version, and (2) to assess the impact of LT on HRQoL by comparing LT and non-LT patient scores and free responses. Parents/caregivers reported lower scores on the majority of the PedsQL™ scales as compared to samples of healthy children, children with solid organ transplants for indications other than MMA, and families affected by chronic conditions. Scores for children with MMA were lowest in school and social functioning and scores for families were lowest in worry and activity impairment. There were no significant differences in LT and non-LT patient scores on the PedsQL™ scales. Our results document the negative impact of MMA on HRQoL.

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Title: Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia
Authors: Kimberly Splinter
Anna-Kaisa Niemi
Rachel Cox
Julia Platt
Monisha Shah
Gregory M. Enns
Mureo Kasahara
Jonathan A. Bernstein
Publication date: 01-10-2016
Publisher: Springer US
Published in: Journal of Genetic Counseling / Issue 5/2016
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-015-9921-x

At a glance: The STEP trials

Springer Medicine

Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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