Elsevier

Pediatric Neurology

Volume 84, July 2018, Pages 21-26
Pediatric Neurology

Original Article
Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy

https://doi.org/10.1016/j.pediatrneurol.2018.03.015Get rights and content

Abstract

Background

We attempted to characterize the health-related quality of life in patients with genetically determined leukoencephalopathies as it relates to the severity of clinical features and the presence or absence of a precise molecular diagnosis.

Methods

Health-related quality of life was assessed using the Pediatric Quality of Life Inventory 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 ranging from one to 32 years of age (mean nine years), as well as their parents, completed the Pediatric Quality of Life Inventory health-related quality of life measures. In addition, participants completed detailed standardized clinical assessments or questionnaires. The correlation between health-related quality of life results and the severity of the clinical features, as well as the presence or absence of a molecular diagnosis, were analyzed.

Results

Patients with more severe clinical features showed statistically significant lower total Pediatric Quality of Life Inventory scores. More specifically, lower health-related quality of life was noted in children with sialorrhea, gastrostomy, and dystonia and in children who use a wheelchair.

Conclusions

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 larger multicenter prospective study will be needed to further define the burden of these diseases and to identify modifiable factors.

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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