Health-Related Quality of Life for Genetically Determined Leukoencephalopathy Patients

Publication date: Available online 9 April 2018
Source:Pediatric Neurology
Author(s): Amytice Mirchi, Félixe Pelletier, Luan T. Tran, Stephanie Keller, Nancy Braverman, Davide Tonduti, Adeline Vanderver, Federico Roncarolo, Amy Pizzino, Marie-Emmanuelle Dilenge, Chantal Poulin, Michael Shevell, Annette Majnemer, Guillaume Sébire, Myriam Srour, Bradley Osterman, Renée-Myriam Boucher, Michel Vanasse, Elsa Rossignol, John Mitchell, Sunita Venkateswaran, Daniela Pohl, Marcelo Kauffman, Raphael Schiffmann, Cyril Goizet, Sebastien Moutton, Geneviève Bernard
AIMSTo characterize health-related quality of life (HRQOL) in patients with genetically determined leukoencephalopathies as it relates to the severity of clinical features and the presence/absence of a precise molecular diagnosis.METHODHRQOL was assessed using the Pediatric Quality of Life Inventory (PedsQL) model (Pediatric Quality of Life Inventory 4.0 Self and Proxy-reports) on 59 patients diagnosed with genetically determined leukoencephalopathies. In total, 38 male and 21 female patients aged from 1 to 32 years (mean 9 years), as well as their parents, completed the PedsQL HRQOL measures. In addition, participants underwent/filled detailed standardized clinical assessments/questionnaires. The correlation between HRQOL results and the severity of the clinical features as well as the presence/absence of a molecular diagnosis was analyzed.RESULTSPatients with more severe clinical features showed statistically significant lower total PedsQL scores. More specifically, lower HRQOL was noted in children with sialorrhea, wheelchair use, gastrostomy and dystonia.INTERPRETATIONIn this study, we have shown that patients with more severe clinical features experience a lower quality of life. Our study further highlights the importance of addressing both physical and psychosocial issues and discussing perception of quality of life with both parents and children. A future larger multicenter prospective study will be important to further define the burden of these diseases and identify modifiable factors.



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