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

Overview

Journal J Genet Couns

Publisher Wiley

Specialty Genetics

Date 2015 Dec 16

PMID 26667650

Citations 19

Authors

Kimberly Splinter

Anna-Kaisa Niemi

Rachel Cox

Julia Platt

Monisha Shah

Gregory M Enns

Mureo Kasahara

Jonathan A Bernstein

Affiliations

Soon will be listed here.

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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