Abstract
Fabry disease (FD) is a genetic X-linked, multisystemic, progressive lysosomal storage disorder (LSD). Depression has emerged as a disease complication, with prevalence estimates ranging from 15 to 62%. This is a pilot study examining the effects of psychological counseling for depression in FD on depression, adaptive functioning (AF), quality of life (QOL), and subjective pain experience. Telecounseling was also piloted, as it has beneficial effects in other chronic diseases which make in-person counseling problematic. Subjects completed 6 months of in-person or telecounseling with the same health psychologist, followed by 6 months without counseling. Self-report measures of depression, AF, QOL, and subjective pain were completed every 3 months. All subjects experienced improvements in depression, which were sustained during the follow-up period. Improvements in depression were correlated with improvements in mental health QOL and subjective pain severity, while improvements in mental health QOL were correlated with improvements in AF. While statistical comparison between counseling modes was not possible with the given sample size, relevant observations were noted. Recommendations for future research include replication of results with a larger sample size and a longer counseling period. The use of video counseling may be beneficial. In conclusion, the present pilot study supports the efficacy of psychological treatment for depression in people with FD, highlighting the importance of having health psychologists housed in LSD treatment centers, rather than specialty psychology/psychiatry settings, to increase participation and decrease potential obstacles to access due to perceived stigma.
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Acknowledgments
The authors thank all the individuals with Fabry disease who participated in this study.
This study was supported by Shire Pharmaceuticals and by the National Center for Advancing Translational Sciences of the National Institutes of Health under Award Number UL1TR000454. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.
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Communicated by: Avihu Boneh, MD, PhD, FRACP
One Sentence Take-Home Message
This study supports the efficacy of psychological counseling for depression in people with FD in improving mental health QOL.
Contributions of Individual Authors
Nadia Ali Ph.D. is responsible for conception and design of the research, data collection, data preparation and interpretation, and writing of the manuscript to be submitted for publication. She is the guarantor.
Dawn Laney M.S. is responsible for conception and design of research, securing grant funding, subject recruitment, and reviewing the article before submission for publication.
Scott Gillespie M.S. is responsible for portions of the statistical analysis, assistance writing the data analysis section of the manuscript, and construction of figures and tables.
Conflicts of Interest
Nadia Ali Ph.D. has received research support from Genzyme, Shire, BioMarin, and Pfizer, as well as lecturers’ honoraria from Genzyme, BioMarin, and Amicus. These activities are monitored and are in compliance with the conflict of interest policies at Emory University.
Dawn Laney M.S. consults for Genzyme and Shire and is a study coordinator in clinical trials sponsored by Genzyme, Amicus, and Protalix. She has also received research funding from Alexion, Amicus, Genzyme, Pfizer, Retrophin, Shire, and Synageva. These activities are monitored and are in compliance with the conflict of interest policies at Emory University.
Scott Gillespie M.S. has no conflicts of interest to declare.
Funding Source
Shire Pharmaceuticals.
The author(s) confirm independence from the sponsors; the content of the article has not been influenced by the sponsors.
Informed Consent
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 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study. Emory University IRB reviewed and approved the conduct of this study.
Electronic Supplementary Material
Supplementary Table 1
Partial Pearson correlations, adjusted for treatment arm, across all study measures (DOCX 17 kb)
Supplementary Table 2
Exact, Wilcoxon signed-rank tests comparing depression response scores at 6, 9, and 12 months versus baseline and 6 months (DOCX 16 kb)
Supplementary Figure 1
Measure spaghetti plots by participants and treatment arm (DOCX 412 kb)
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Ali, N., Gillespie, S., Laney, D. (2017). Treatment of Depression in Adults with Fabry Disease. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 38. JIMD Reports, vol 38. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2017_21
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DOI: https://doi.org/10.1007/8904_2017_21
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