Splinter Kimberly, Niemi Anna-Kaisa, Cox Rachel, Platt Julia, Shah Monisha, Enns Gregory M, Kasahara Mureo, Bernstein Jonathan A
Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
J Genet Couns. 2016 Oct;25(5):936-44. doi: 10.1007/s10897-015-9921-x. Epub 2015 Dec 14.
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.
了解受甲基丙二酸血症（MMA）影响的儿童及其家庭的健康相关生活质量（HRQoL）对于规划咨询和治疗干预非常重要。肝移植（LT）被用作MMA的一种治疗方法；然而，其风险和益处仍在研究中。本研究的目的有两个：（1）使用儿童生活质量量表（PedsQL™）家长版测量受MMA影响的儿童及其家庭的HRQoL，（2）通过比较肝移植和非肝移植患者的得分及自由回答来评估肝移植对HRQoL的影响。与健康儿童样本、因非MMA适应症进行实体器官移植的儿童样本以及受慢性疾病影响的家庭相比，家长/照顾者报告在大多数PedsQL™量表上得分较低。MMA患儿在学校和社交功能方面的得分最低，家庭在担忧和活动障碍方面的得分最低。肝移植和非肝移植患者在PedsQL™量表上的得分没有显著差异。我们的结果证明了MMA对HRQoL的负面影响。
