Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.
Pediatric Neurology. 2018-07-01; 84: 21-26
DOI: 10.1016/j.pediatrneurol.2018.03.015
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1. Pediatr Neurol. 2018 Jul;84:21-26. doi: 10.1016/j.pediatrneurol.2018.03.015. Epub
2018 Apr 9.
Health-Related Quality of Life for Patients With Genetically Determined
Leukoencephalopathy.
Mirchi A(1), Pelletier F(1), Tran LT(1), Keller S(2), Braverman N(3), Tonduti
D(4), Vanderver A(5), Pizzino A(6), Dilenge ME(7), Poulin C(7), Shevell M(8),
Majnemer A(8), Sébire G(8), Srour M(8), Osterman B(9), Boucher RM(9), Vanasse
M(10), Rossignol E(10), Mitchell J(11), Venkateswaran S(12), Pohl D(12), Kauffman
M(13), Schiffmann R(14), Goizet C(15), Moutton S(15), Roncarolo F(16), Bernard
G(17).
Author information:
(1)Department of Medical Genetics, Montreal Children’s Hospital, McGill
University Health Centre, Montreal, Quebec, Canada; Department of Neurology and
Neurosurgery, McGill University, Montreal, Quebec, Canada; Department of
Pediatrics, McGill University, Montreal, Quebec, Canada; Child Health and Human
Development Program, Research Institute of the McGill University Health Centre,
Montreal, Quebec, Canada.
(2)Department of Pediatrics, Division of Pediatric Neurology, Emory University,
Atlanta, Georgia.
(3)Department of Medical Genetics, Montreal Children’s Hospital, McGill
University Health Centre, Montreal, Quebec, Canada; Department of Pediatrics,
McGill University, Montreal, Quebec, Canada.
(4)Child Neurology Unit, V. Buzzi Children’s Hospital, Milan, Italy; Child
Neurology Department, Carlo Besta Neurological Institute, Milan, Italy.
(5)Department of Neurology, Perelman School of Medicine, University of
Pennsylvania, Philadelphia, Pennsylvania; Division of Neurology, Children’s
Hospital of Philadelphia, Philadelphia, Pennsylvania.
(6)Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania; MetroHealth
Hospital, Cleveland, Ohio.
(7)Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec,
Canada; Department of Pediatrics, McGill University, Montreal, Quebec, Canada;
Department of Pediatrics, Division of Pediatric Neurology, Montreal Children’s
Hospital and the McGill University Health Centre, Montreal, Quebec, Canada.
(8)Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec,
Canada; Department of Pediatrics, McGill University, Montreal, Quebec, Canada;
Child Health and Human Development Program, Research Institute of the McGill
University Health Centre, Montreal, Quebec, Canada; Department of Pediatrics,
Division of Pediatric Neurology, Montreal Children’s Hospital and the McGill
University Health Centre, Montreal, Quebec, Canada.
(9)Department of Pediatrics, Division of Pediatric Neurology, Centre Hospitalier
de l’Université Laval, Québec, Québec, Canada.
(10)Department of Neurosciences and Pediatrics, Division of Pediatric Neurology,
Centre Hospitalier Universitaire Sainte-Justine, Montreal, Quebec, Canada.
(11)Department of Medical Genetics, Montreal Children’s Hospital, McGill
University Health Centre, Montreal, Quebec, Canada; Department of Pediatrics,
McGill University, Montreal, Quebec, Canada; Child Health and Human Development
Program, Research Institute of the McGill University Health Centre, Montreal,
Quebec, Canada; Department of Pediatrics, Division of Pediatric Endocrinology,
McGill University Health Center, Montreal, Quebec, Canada.
(12)Division of Neurology, Department of Pediatrics, Children’s Hospital of
Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.
(13)Neurogenetics Unit, Department of Neurology, Hospital JM Ramos Mejia and
CONICET, Buenos Aires, Argentina.
(14)Institute of Metabolic Disease, Baylor University Medical Center at Dallas,
Dallas, Texas.
(15)Univ. Bordeaux, Laboratoire MRGM, INSERM U1211 and CHU Bordeaux, Service de
Génétique Médicale, Bordeaux, France.
(16)Institut de recherche en santé publique de l’Université de Montréal,
Montreal, Quebec, Canada.
(17)Department of Medical Genetics, Montreal Children’s Hospital, McGill
University Health Centre, Montreal, Quebec, Canada; Department of Neurology and
Neurosurgery, McGill University, Montreal, Quebec, Canada; Department of
Pediatrics, McGill University, Montreal, Quebec, Canada; Child Health and Human
Development Program, Research Institute of the McGill University Health Centre,
Montreal, Quebec, Canada. Electronic address: .
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.
Copyright © 2018 Elsevier Inc. All rights reserved.
DOI: 10.1016/j.pediatrneurol.2018.03.015
PMID: 29859719 [Indexed for MEDLINE]