Fragile X syndrome

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

authored by

BURQOL-RD Research Network , K. Chevreul, K. Berg Brigham, M. Brunn, V. des Portes, Pedro Serrano-Aguilar, Renata Linertová, Julio López-Bastida, Juan Oliva-Moreno, Manuel Posada de la Paz, Manuel Hens Pérez, Ignacio Abaitua, Domenica Taruscio, Yllka Kodra, Arrigo Schieppati, Rumen Stefanov, Georgi Iskrov, László Gulácsi, Márta Péntek, Rosa Sánchez de Vega García, Claudia Delgado, Panos Kanavos, Aris Angelis, Elena Nicod, Johann Matthias Graf von der Schulenburg, Alexander Kuhlmann, Ulf Persson, Ola Ghatnekar, Karen Brigham, Giovanni Fattore, Marianna Cavazza

Abstract

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.

Organisation(s)

Center for Health Economics Research Hannover (CHERH)

External Organisation(s)

AP-HP Assistance Publique - Hopitaux de Paris
Institut national de la santé et de la recherche médicale (INSERM)
Université Paris-Est Créteil Val-de-Marne (UPEC)
Universite Paris XII
Université Claude Bernard Lyon 1
Canary Islands Foundation for Health Research (FUNCANIS)
Universidad de Castilla-La Mancha
Institute of Health Carlos III (ISCIII)
Istituto Superiore di Sanita
Institute of Pharmacological Research Mario Negri IRCCS
Bulgarian Association for Promotion of Education and Science
Health Economics and Health Technology Assessment Research Centre (HunHTA)
Federación Española de Enfermedades Raras (FEDER)
London School of Economics and Political Science
The Swedish Institute for Health Economics
Università Commerciale Luigi Bocconi

Type

Article

Journal

Journal of Intellectual Disability Research

Volume

59

Pages

1108-1120

No. of pages

13

ISSN

0964-2633

Publication date

12.2015

Publication status

Published

Peer reviewed

Yes

ASJC Scopus subject areas

Rehabilitation, Arts and Humanities (miscellaneous), Neurology, Clinical Neurology, Psychiatry and Mental health

Sustainable Development Goals

SDG 3 - Good Health and Well-being

Electronic version(s)

https://doi.org/10.1111/jir.12215 (Access: Closed)