P.23Quality of life outcomes in patients with congenital and childhood-onset myotonic dystrophy

Abstract

No viable treatment currently exists for pediatric patients with Myotonic dystrophy type 1 (DM1), and the management of disease includes surveillance and treatment of symptoms. Therefore, assessing the quality of life is important in effectively managing their disease and reducing their burden. However, there is little existing research about the quality of life in these patients. This study investigated the health related quality of life outcomes (HRQOL) and the relationship between HRQOL and physical functioning in patients with congenital and Childhood-Onset DM1 to better assess disease burden. We hypothesize that HRQOL will correlate with motor function in patients with congenital and childhood-onset DM1, with a higher quality of life associated with more physical functionality. A retrospective analysis of electronic health records of thirty-two patients diagnosed with congenital or childhood-onset DM1 was performed. Patients enrolled in this study ranged from ages two to thirty years old, with 18 (56%) diagnosed with congenital DM1 and 14 (44%) diagnosed with childhood-onset DM1. The primary outcome of interest, HRQOL, was assessed using patient-reported outcomes included PedsQL™ 4.0 generic core scale and PedsQL™ 3.0 neuromuscular module surveys collected over six years. Analysis of variance with repeated measures was performed between primary and secondary outcome measures which focused primarily on physical functionality. Total child-reported quality of life, as well as child-and parent-reported physical functioning, were low in both congenital and childhood-onset groups, and were significantly lower in the congenital cohort than in the childhood-onset cohort. Aside from onset of disease, motor function progress at visit had the most significant impact on HRQOL, with the declining group scoring lower than the improving or stable groups in all parent-reported subdomains except for emotional functioning.