Original ArticleHealth-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy
Section snippets
Participants
Fifty-nine participants aged from one to 32 years old were recruited between 2014 and 2016 at the leukodystrophy clinic of the Montreal Children's Hospital of the McGill University Health Center in Quebec, Canada, at the Myelin Disorders Clinic at the Children's National Medical Center in Washington DC, and at the Foundation of the Carlo Besta Neurological Institute, Milan, Italy. Eligible participants included those diagnosed with a genetically determined leukoencephalopathy, with or without a
Results
Fifty-nine patients were enrolled. As shown in Table 1, the PedsQL 4.0 Generic Core Scales Proxy-reports were completed for 51 participants by one of their parents and the self-reports were completed by 16 participants. The PedsQL Multidimensional Fatigue Scale Proxy-reports were completed for 39 participants by one of their parents and the self-reports were completed by 15 participants. Clinical characteristics and molecular diagnoses for our study population are presented in Table 2. Table 3
Discussion
Overall, patients with genetically determined leukoencephalopathy seem to have a poorer HRQOL as it relates to the severity of their clinical features. Indeed, our results show a statistically significant reduction in HRQOL for patients with gastrostomy, dystonia, and sialorrhea, and in patients needing a wheelchair. The poorer HRQOL could be a consequence of the physical limitations, stress, and emotional impact of such clinical features. These impacts could be addressed with priority when
Conclusions
Patients with genetically determined leukoencephalopathies are at risk for poor HRQOL. Our results show that HRQOL is influenced by the severity of clinical features presented by patients. By assessing HRQOL, we have identified areas of concern that can be targeted and prioritized when developing care strategies. Interventions should address these specific concernsand aim to improve physical and social functioning. We have shown that using a wheelchair and having a gastrostomy, dystonia, and
Acknowledgements
The authors thank all patients and families for their participation, time, and patience to complete the HRQOL assessments. G.B. has received a Research Scholar Junior 1 award from the Fonds de Recherche du Québec en Santé (FRQS) 2012-2016 and a Canadian Institute of Health Research New Investigator salary award (2017-2022) (201512MSH-360766-171036). This work was supported by operating grants from Réseau de Médecine Génétique Appliquée of the FRQS, Fondation les Amis d'Éliott, Fondation Lueur
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