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Health-Related Quality of Life in Individuals with Down Syndrome: Results from a Non-Interventional Longitudinal Multi-National Study

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Abstract

Introduction

To date, there is little research on health-related quality of life (HRQoL) in Down syndrome (DS), and existing research is variable with regard to reported HRQoL in DS. There are also no HRQoL measures developed specifically to be used with individuals with Down syndrome.

Methods

A multi-national, longitudinal, 24-week non-interventional study was conducted in adolescents and adults with DS. HRQoL was assessed (n = 90) using the parent-report KIDSCREEN-27 questionnaire.

Results

HRQoL domain scores were found to be similar to those in the KIDSCREEN-27 European normative group data set on the Physical Well-being, Psychological Well-being, Autonomy and Parent Relations domains. Compared with the normative data set, the adolescent participants with DS in the current study were found to have lower scores on the Social Support and Peers domain and higher scores than the normative group on the School Environment domain. The test-retest reliability of the KIDSCREEN-27 was also examined using the intraclass correlation coefficient (ICC) in a subgroup of stable participants. The KIDSCREEN-27 demonstrated poor-to-moderate test-retest reliability; however, test-retest reliability was assessed using a long time interval between assessment time points.

Conclusion

The findings of this study underline that further research is needed to better understand the nature of HRQoL in DS. Further research using a shorter time interval between assessment time points to examine test-retest reliability is also required.

Funding

F. Hoffmann-La Roche Ltd.

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Acknowledgements

Sponsorship for this study and article-processing charges was funded by F. Hoffmann-La Roche Ltd. All named authors meet the International Committee of Medical Journal Editors (ICMJE) criteria for authorship for this manuscript, take responsibility for the integrity of this work as a whole and have given final approval to the version to be published. Hannah Staunton (an employee of Roche Products, Ltd.) provided editorial assistance during the writing of this manuscript.

Disclosures

Diana Rofail is an employee of Roche Products, Ltd., and holds stock in the company. At the time of the research, Daniel Froggatt was an employee of Roche Products, Ltd. Daniel Froggatt’s current affiliation is Aon Hewitt, Sydney. Lisa Squassante is an employee of F. Hoffmann-La Roche, Ltd. Xavier Liogier D’Ardhuy is an employee of F. Hoffmann-La Roche, Ltd. Omar Khwaja is an employee of F. Hoffmann-La Roche, Ltd., and holds stock in the company. Priya Kishnani was an investigator for Roche-sponsored Down syndrome clinical trials and has received honoraria from Roche Pharmaceuticals. Renaud Touraine received fees and travel support from Roche Products, Ltd., for this study. Jamie Edgin, Rafael De La Torre and Sarah Whitwham declare that they have no conflicts of interest.

Compliance with Ethics Guidelines

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1964, as revised in 2013. Ethical approval was obtained from the relevant IRBs in each country. Written consent was obtained from participants, and for those who were incapable of giving consent, written consent was obtained from their legally acceptable representative (typically their caregiver).

Data Availability

The data sets generated during and/or analyzed during the current study are not publicly available as this research was conducted as part of a larger clinical trial and these data have not been publicly shared, but are available from the corresponding author on reasonable request.

Author information

Authors and Affiliations

  1. Roche Products Limited, Welwyn Garden City, UK

    Diana Rofail & Daniel Froggatt

  2. Hospital del Mar Medical Research Institute (IMIM), 08003, Barcelona, Spain

    Rafael de la Torre

  3. University of Arizona, Tuscon, AZ, USA

    Jamie Edgin

  4. Duke University, Durham, NC, USA

    Priya Kishnani

  5. CHU-Hopital Nord, Saint Etienne, France

    Renaud Touraine

  6. Cornwall Partnership NHS Foundation Trust, Trengweath, Redruth, Cornwall, UK

    Sarah Whitwham

  7. Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Basel, Switzerland

    Lisa Squassante, Omar Khwaja & Xavier Liogier D’Ardhuy

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  1. Diana Rofail
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  2. Daniel Froggatt
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  3. Rafael de la Torre
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Corresponding author

Correspondence to Diana Rofail.

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Rofail, D., Froggatt, D., de la Torre, R. et al. Health-Related Quality of Life in Individuals with Down Syndrome: Results from a Non-Interventional Longitudinal Multi-National Study. Adv Ther 34, 2058–2069 (2017). https://doi.org/10.1007/s12325-017-0591-y

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