TY - JOUR

T1 - Fragile X syndrome

T2 - economic burden and health-related quality of life of patients and caregivers in France

AU - BURQOL-RD Research Network

AU - Chevreul, K.

AU - Berg Brigham, K.

AU - Brunn, M.

AU - des Portes, V.

AU - Serrano-Aguilar, Pedro

AU - Linertová, Renata

AU - López-Bastida, Julio

AU - Oliva-Moreno, Juan

AU - de la Paz, Manuel Posada

AU - Pérez, Manuel Hens

AU - Abaitua, Ignacio

AU - Taruscio, Domenica

AU - Kodra, Yllka

AU - Schieppati, Arrigo

AU - Stefanov, Rumen

AU - Iskrov, Georgi

AU - Gulácsi, László

AU - Péntek, Márta

AU - de Vega García, Rosa Sánchez

AU - Delgado, Claudia

AU - Kanavos, Panos

AU - Angelis, Aris

AU - Nicod, Elena

AU - von der Schulenburg, Johann Matthias Graf

AU - Kuhlmann, Alexander

AU - Persson, Ulf

AU - Ghatnekar, Ola

AU - Brigham, Karen

AU - Fattore, Giovanni

AU - Cavazza, Marianna

N1 - Funding Information: We are grateful for the strong support of C?line Pinto from Le Go?land X-Fragile and Mich?le Juniere from Mosa?ques in organising patient recruitment. We also thank Alexia Poupard of the Alliance Maladies Rares, our collaborating partner in BURQOL-RD, for her very important role in coordinating this survey. We further gratefully acknowledge Julien Thillard for his statistical support, as well as Maya Dorsey and Coralie Gandr? for their careful review of the manuscript. This study is supported by the Social Economic Burden and Health -Related Quality of Life in Patients with Rare Diseases in Europe Project, which has received funding from the European Union in the framework of the Health Programme (grant A101205). The Executive Agency of the European Union is not responsible for any use that may be made of the information contained here.

PY - 2015/12

Y1 - 2015/12

N2 - Background: Fragile X syndrome (FXS) is the main hereditary cause of intellectual disability. Although the associated burden appears to be considerable, to date no study has comprehensively assessed the cost incurred because of FXS, including its specific impact on health-related quality of life and the burden on caregivers using standardised quantitative tools. The aim of this article is to provide data in order to increase awareness of the repercussions of FXS on patients and caregivers as well as on the health and social care systems in France. Methods: A retrospective cross-sectional study was carried out on 145 patients recruited through Le Goëland X-Fragile and Mosaïques, the French FXS patient associations. Data on their demographic characteristics and resource use were obtained from an online questionnaire, and costs were estimated by a bottom-up approach. The EQ-5D health questionnaire was used to measure patients' and caregivers' health-related quality of life. Perceived burden of care was measured using the Zarit Caregiver Burden Interview. The Barthel index, a non-utility-based assessment, was used to measure patients' level of dependence. Results: The annual total direct cost of FXS was estimated at €25800 per patient. The main contributors were informal care provided by the main caregiver (€10500) and social services (€8400). Healthcare costs, estimated at €2700, represented only a minor share. Mean EQ-5D utility scores were 0.49 for patients and 0.75 for caregivers. The mean burden for caregivers as measured by the Zarit Caregiver Burden Interview was 39.9. Conclusions: Fragile X syndrome requires significant resources that are mainly of a non-medical nature and are higher for children than for adults. Compared with related diseases, it constitutes a particularly high burden for caregivers. Using a bottom-up approach and a wide range of standardised measures, this study underscores the need for greater awareness of the burden of FXS as well as an assessment of new and existing interventions to address it.

AB - Background: Fragile X syndrome (FXS) is the main hereditary cause of intellectual disability. Although the associated burden appears to be considerable, to date no study has comprehensively assessed the cost incurred because of FXS, including its specific impact on health-related quality of life and the burden on caregivers using standardised quantitative tools. The aim of this article is to provide data in order to increase awareness of the repercussions of FXS on patients and caregivers as well as on the health and social care systems in France. Methods: A retrospective cross-sectional study was carried out on 145 patients recruited through Le Goëland X-Fragile and Mosaïques, the French FXS patient associations. Data on their demographic characteristics and resource use were obtained from an online questionnaire, and costs were estimated by a bottom-up approach. The EQ-5D health questionnaire was used to measure patients' and caregivers' health-related quality of life. Perceived burden of care was measured using the Zarit Caregiver Burden Interview. The Barthel index, a non-utility-based assessment, was used to measure patients' level of dependence. Results: The annual total direct cost of FXS was estimated at €25800 per patient. The main contributors were informal care provided by the main caregiver (€10500) and social services (€8400). Healthcare costs, estimated at €2700, represented only a minor share. Mean EQ-5D utility scores were 0.49 for patients and 0.75 for caregivers. The mean burden for caregivers as measured by the Zarit Caregiver Burden Interview was 39.9. Conclusions: Fragile X syndrome requires significant resources that are mainly of a non-medical nature and are higher for children than for adults. Compared with related diseases, it constitutes a particularly high burden for caregivers. Using a bottom-up approach and a wide range of standardised measures, this study underscores the need for greater awareness of the burden of FXS as well as an assessment of new and existing interventions to address it.

KW - Costs

KW - Economic burden

KW - Fragile X syndrome

KW - Quality of life

UR - http://www.scopus.com/inward/record.url?scp=84983094654&partnerID=8YFLogxK

U2 - 10.1111/jir.12215

DO - 10.1111/jir.12215

M3 - Article

C2 - 26369667

AN - SCOPUS:84983094654

VL - 59

SP - 1108

EP - 1120

JO - Journal of Intellectual Disability Research

JF - Journal of Intellectual Disability Research

SN - 0964-2633

IS - 12

ER -