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Impaired Health‐Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia
Author(s) -
Splinter Kimberly,
Niemi AnnaKaisa,
Cox Rachel,
Platt Julia,
Shah Monisha,
Enns Gregory M.,
Kasahara Mureo,
Bernstein Jonathan A.
Publication year - 2016
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1007/s10897-015-9921-x
Subject(s) - methylmalonic acidemia , medicine , quality of life (healthcare) , worry , methylmalonic acid , intervention (counseling) , public health , pediatrics , clinical psychology , vitamin b12 , psychiatry , anxiety , nursing
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.