Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia |
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| Authors: | Kimberly Splinter Anna-Kaisa Niemi Rachel Cox Julia Platt Monisha Shah Gregory M Enns Mureo Kasahara Jonathan A Bernstein |
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| Institution: | 1.Department of Genetics,Stanford University School of Medicine,Stanford,USA;2.Department of Biomedical Informatics,Harvard Medical School,Boston,USA;3.Department of Pediatrics, Division of Medical Genetics, Stanford Children’s Hospital,Stanford University,Stanford,USA;4.Department of Pediatrics, Division of Neonatal and Developmental Medicine,Stanford University,Stanford,USA;5.Transplantation Center,National Center for Child Health and Development,Tokyo,Japan |
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| 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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