title: Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia.
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.
authors.affiliation: Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA. kimberly_splinter@hms.harvard.edu.|Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. kimberly_splinter@hms.harvard.edu.
authors.forename: Kimberly
authors.initials: K
authors.lastname: Splinter
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, Stanford Children's Hospital, Stanford University, Stanford, CA, USA.|Department of Pediatrics, Division of Neonatal and Developmental Medicine, Stanford University, Stanford, CA, USA.
authors.forename: Anna-Kaisa
authors.initials: AK
authors.lastname: Niemi
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, Stanford Children's Hospital, Stanford University, Stanford, CA, USA.
authors.forename: Rachel
authors.initials: R
authors.lastname: Cox
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, Stanford Children's Hospital, Stanford University, Stanford, CA, USA.
authors.forename: Julia
authors.initials: J
authors.lastname: Platt
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, Stanford Children's Hospital, Stanford University, Stanford, CA, USA.
authors.forename: Monisha
authors.initials: M
authors.lastname: Shah
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, Stanford Children's Hospital, Stanford University, Stanford, CA, USA.
authors.forename: Gregory M
authors.initials: GM
authors.lastname: Enns
authors.affiliation: Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Mureo
authors.initials: M
authors.lastname: Kasahara
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, Stanford Children's Hospital, Stanford University, Stanford, CA, USA.
authors.forename: Jonathan A
authors.initials: JA
authors.lastname: Bernstein
mesh_terms: D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000523:psychology*; D017028:Caregivers / Q000523:psychology; D002648:Child; D002675:Child, Preschool; D002908:Chronic Disease / Q000523:psychology; D005260:Female; D006801:Humans; D008297:Male; D009679:Nuclear Family / Q000523:psychology*; D011788:Quality of Life; D011795:Surveys and Questionnaires
keywords: Health-related quality of life; Inborn error of metabolism; Liver transplantation; Methylmalonic acidemia