Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy
- Autores
- Mirchi, Amytice; Pelletier, Félixe; Tran, Luan T.; Keller, Stephanie; Braverman, Nancy; Tonduti, Davide; Vanderver, Adeline; Pizzino, Amy; Dilenge, Marie Emmanuelle; Poulin, Chantal; Shevell, Michael; Majnemer, Annette; Sébire, Guillaume; Srour, Myriam; Osterman, Bradley; Boucher, Renée Myriam; Vanasse, Michel; Rossignol, Elsa; Mitchell, John; Venkateswaran, Sunita; Pohl, Daniela; Kauffman, Marcelo Andres; Schiffmann, Raphael; Goizet, Cyril; Moutton, Sebastien; Roncarolo, Federico; Bernard, Geneviève
- Año de publicación
- 2018
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- 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.
Fil: Mirchi, Amytice. McGill University; Canadá
Fil: Pelletier, Félixe. McGill University; Canadá
Fil: Tran, Luan T.. McGill University; Canadá
Fil: Keller, Stephanie. McGill University; Canadá
Fil: Braverman, Nancy. McGill University; Canadá
Fil: Tonduti, Davide. Buzzi Children's Hospital; Italia
Fil: Vanderver, Adeline. McGill University; Canadá
Fil: Pizzino, Amy. Children's Hospital of Philadelphia; Estados Unidos
Fil: Dilenge, Marie Emmanuelle. McGill University; Canadá
Fil: Poulin, Chantal. McGill University; Canadá
Fil: Shevell, Michael. McGill University; Canadá
Fil: Majnemer, Annette. McGill University; Canadá
Fil: Sébire, Guillaume. McGill University; Canadá
Fil: Srour, Myriam. McGill University; Canadá
Fil: Osterman, Bradley. Hospitalier de l'Université Laval; Canadá
Fil: Boucher, Renée Myriam. Hospitalier de l'Université Laval; Canadá
Fil: Vanasse, Michel. Centre Hospitalier Universitaire Sainte-Justine; Canadá
Fil: Rossignol, Elsa. Centre Hospitalier Universitaire Sainte-Justine; Canadá
Fil: Mitchell, John. McGill University; Canadá
Fil: Venkateswaran, Sunita. University of Ottawa; Canadá
Fil: Pohl, Daniela. University of Ottawa; Canadá
Fil: Kauffman, Marcelo Andres. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Universidad Austral. Facultad de Ciencias Biomédicas. Instituto de Investigaciones en Medicina Traslacional. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones en Medicina Traslacional; Argentina
Fil: Schiffmann, Raphael. Baylor University Medical Center at Dallas; Estados Unidos
Fil: Goizet, Cyril. Inserm; Francia
Fil: Moutton, Sebastien. Inserm; Francia
Fil: Roncarolo, Federico. Université du Québec a Montreal; Canadá
Fil: Bernard, Geneviève. McGill University; Canadá - Materia
-
GENETIC LEUKOENCEPHALOPATHIES
GENETICALLY DETERMINED LEUKOENCEPHALOPATHIES
HEALTH-RELATED QUALITY OF LIFE
LEUKODYSTROPHIES
PEDIATRIC QUALITY OF LIFE INVENTORY - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
.jpg)
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/201451
Ver los metadatos del registro completo
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Health-Related Quality of Life for Patients With Genetically Determined LeukoencephalopathyMirchi, AmyticePelletier, FélixeTran, Luan T.Keller, StephanieBraverman, NancyTonduti, DavideVanderver, AdelinePizzino, AmyDilenge, Marie EmmanuellePoulin, ChantalShevell, MichaelMajnemer, AnnetteSébire, GuillaumeSrour, MyriamOsterman, BradleyBoucher, Renée MyriamVanasse, MichelRossignol, ElsaMitchell, JohnVenkateswaran, SunitaPohl, DanielaKauffman, Marcelo AndresSchiffmann, RaphaelGoizet, CyrilMoutton, SebastienRoncarolo, FedericoBernard, GenevièveGENETIC LEUKOENCEPHALOPATHIESGENETICALLY DETERMINED LEUKOENCEPHALOPATHIESHEALTH-RELATED QUALITY OF LIFELEUKODYSTROPHIESPEDIATRIC QUALITY OF LIFE INVENTORYhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Background: 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.Fil: Mirchi, Amytice. McGill University; CanadáFil: Pelletier, Félixe. McGill University; CanadáFil: Tran, Luan T.. McGill University; CanadáFil: Keller, Stephanie. McGill University; CanadáFil: Braverman, Nancy. McGill University; CanadáFil: Tonduti, Davide. Buzzi Children's Hospital; ItaliaFil: Vanderver, Adeline. McGill University; CanadáFil: Pizzino, Amy. Children's Hospital of Philadelphia; Estados UnidosFil: Dilenge, Marie Emmanuelle. McGill University; CanadáFil: Poulin, Chantal. McGill University; CanadáFil: Shevell, Michael. McGill University; CanadáFil: Majnemer, Annette. McGill University; CanadáFil: Sébire, Guillaume. McGill University; CanadáFil: Srour, Myriam. McGill University; CanadáFil: Osterman, Bradley. Hospitalier de l'Université Laval; CanadáFil: Boucher, Renée Myriam. Hospitalier de l'Université Laval; CanadáFil: Vanasse, Michel. Centre Hospitalier Universitaire Sainte-Justine; CanadáFil: Rossignol, Elsa. Centre Hospitalier Universitaire Sainte-Justine; CanadáFil: Mitchell, John. McGill University; CanadáFil: Venkateswaran, Sunita. University of Ottawa; CanadáFil: Pohl, Daniela. University of Ottawa; CanadáFil: Kauffman, Marcelo Andres. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Universidad Austral. Facultad de Ciencias Biomédicas. Instituto de Investigaciones en Medicina Traslacional. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones en Medicina Traslacional; ArgentinaFil: Schiffmann, Raphael. Baylor University Medical Center at Dallas; Estados UnidosFil: Goizet, Cyril. Inserm; FranciaFil: Moutton, Sebastien. Inserm; FranciaFil: Roncarolo, Federico. Université du Québec a Montreal; CanadáFil: Bernard, Geneviève. McGill University; CanadáElsevier Science Inc.2018-07info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/201451Mirchi, Amytice; Pelletier, Félixe; Tran, Luan T.; Keller, Stephanie; Braverman, Nancy; et al.; Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy; Elsevier Science Inc.; Pediatric Neurology; 84; 7-2018; 21-260887-8994CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1016/j.pediatrneurol.2018.03.015info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S0887899417310159info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:41:27Zoai:ri.conicet.gov.ar:11336/201451instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 09:41:28.055CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
| dc.title.none.fl_str_mv |
Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy |
| title |
Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy |
| spellingShingle |
Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy Mirchi, Amytice GENETIC LEUKOENCEPHALOPATHIES GENETICALLY DETERMINED LEUKOENCEPHALOPATHIES HEALTH-RELATED QUALITY OF LIFE LEUKODYSTROPHIES PEDIATRIC QUALITY OF LIFE INVENTORY |
| title_short |
Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy |
| title_full |
Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy |
| title_fullStr |
Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy |
| title_full_unstemmed |
Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy |
| title_sort |
Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy |
| dc.creator.none.fl_str_mv |
Mirchi, Amytice Pelletier, Félixe Tran, Luan T. Keller, Stephanie Braverman, Nancy Tonduti, Davide Vanderver, Adeline Pizzino, Amy Dilenge, Marie Emmanuelle Poulin, Chantal Shevell, Michael Majnemer, Annette Sébire, Guillaume Srour, Myriam Osterman, Bradley Boucher, Renée Myriam Vanasse, Michel Rossignol, Elsa Mitchell, John Venkateswaran, Sunita Pohl, Daniela Kauffman, Marcelo Andres Schiffmann, Raphael Goizet, Cyril Moutton, Sebastien Roncarolo, Federico Bernard, Geneviève |
| author |
Mirchi, Amytice |
| author_facet |
Mirchi, Amytice Pelletier, Félixe Tran, Luan T. Keller, Stephanie Braverman, Nancy Tonduti, Davide Vanderver, Adeline Pizzino, Amy Dilenge, Marie Emmanuelle Poulin, Chantal Shevell, Michael Majnemer, Annette Sébire, Guillaume Srour, Myriam Osterman, Bradley Boucher, Renée Myriam Vanasse, Michel Rossignol, Elsa Mitchell, John Venkateswaran, Sunita Pohl, Daniela Kauffman, Marcelo Andres Schiffmann, Raphael Goizet, Cyril Moutton, Sebastien Roncarolo, Federico Bernard, Geneviève |
| author_role |
author |
| author2 |
Pelletier, Félixe Tran, Luan T. Keller, Stephanie Braverman, Nancy Tonduti, Davide Vanderver, Adeline Pizzino, Amy Dilenge, Marie Emmanuelle Poulin, Chantal Shevell, Michael Majnemer, Annette Sébire, Guillaume Srour, Myriam Osterman, Bradley Boucher, Renée Myriam Vanasse, Michel Rossignol, Elsa Mitchell, John Venkateswaran, Sunita Pohl, Daniela Kauffman, Marcelo Andres Schiffmann, Raphael Goizet, Cyril Moutton, Sebastien Roncarolo, Federico Bernard, Geneviève |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.subject.none.fl_str_mv |
GENETIC LEUKOENCEPHALOPATHIES GENETICALLY DETERMINED LEUKOENCEPHALOPATHIES HEALTH-RELATED QUALITY OF LIFE LEUKODYSTROPHIES PEDIATRIC QUALITY OF LIFE INVENTORY |
| topic |
GENETIC LEUKOENCEPHALOPATHIES GENETICALLY DETERMINED LEUKOENCEPHALOPATHIES HEALTH-RELATED QUALITY OF LIFE LEUKODYSTROPHIES PEDIATRIC QUALITY OF LIFE INVENTORY |
| purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.2 https://purl.org/becyt/ford/3 |
| dc.description.none.fl_txt_mv |
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. Fil: Mirchi, Amytice. McGill University; Canadá Fil: Pelletier, Félixe. McGill University; Canadá Fil: Tran, Luan T.. McGill University; Canadá Fil: Keller, Stephanie. McGill University; Canadá Fil: Braverman, Nancy. McGill University; Canadá Fil: Tonduti, Davide. Buzzi Children's Hospital; Italia Fil: Vanderver, Adeline. McGill University; Canadá Fil: Pizzino, Amy. Children's Hospital of Philadelphia; Estados Unidos Fil: Dilenge, Marie Emmanuelle. McGill University; Canadá Fil: Poulin, Chantal. McGill University; Canadá Fil: Shevell, Michael. McGill University; Canadá Fil: Majnemer, Annette. McGill University; Canadá Fil: Sébire, Guillaume. McGill University; Canadá Fil: Srour, Myriam. McGill University; Canadá Fil: Osterman, Bradley. Hospitalier de l'Université Laval; Canadá Fil: Boucher, Renée Myriam. Hospitalier de l'Université Laval; Canadá Fil: Vanasse, Michel. Centre Hospitalier Universitaire Sainte-Justine; Canadá Fil: Rossignol, Elsa. Centre Hospitalier Universitaire Sainte-Justine; Canadá Fil: Mitchell, John. McGill University; Canadá Fil: Venkateswaran, Sunita. University of Ottawa; Canadá Fil: Pohl, Daniela. University of Ottawa; Canadá Fil: Kauffman, Marcelo Andres. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Universidad Austral. Facultad de Ciencias Biomédicas. Instituto de Investigaciones en Medicina Traslacional. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones en Medicina Traslacional; Argentina Fil: Schiffmann, Raphael. Baylor University Medical Center at Dallas; Estados Unidos Fil: Goizet, Cyril. Inserm; Francia Fil: Moutton, Sebastien. Inserm; Francia Fil: Roncarolo, Federico. Université du Québec a Montreal; Canadá Fil: Bernard, Geneviève. McGill University; Canadá |
| description |
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. |
| publishDate |
2018 |
| dc.date.none.fl_str_mv |
2018-07 |
| dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
| format |
article |
| status_str |
publishedVersion |
| dc.identifier.none.fl_str_mv |
http://hdl.handle.net/11336/201451 Mirchi, Amytice; Pelletier, Félixe; Tran, Luan T.; Keller, Stephanie; Braverman, Nancy; et al.; Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy; Elsevier Science Inc.; Pediatric Neurology; 84; 7-2018; 21-26 0887-8994 CONICET Digital CONICET |
| url |
http://hdl.handle.net/11336/201451 |
| identifier_str_mv |
Mirchi, Amytice; Pelletier, Félixe; Tran, Luan T.; Keller, Stephanie; Braverman, Nancy; et al.; Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy; Elsevier Science Inc.; Pediatric Neurology; 84; 7-2018; 21-26 0887-8994 CONICET Digital CONICET |
| dc.language.none.fl_str_mv |
eng |
| language |
eng |
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info:eu-repo/semantics/altIdentifier/doi/10.1016/j.pediatrneurol.2018.03.015 info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S0887899417310159 |
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info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
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openAccess |
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application/pdf application/pdf |
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Elsevier Science Inc. |
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Elsevier Science Inc. |
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dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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