Advertisement

Treatment of Depression in Adults with Fabry Disease

Research Report
Part of the JIMD Reports book series (JIMD, volume 38)

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.

Keywords

Adaptive functioning Depression Fabry Quality of life Telecounseling 

Notes

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.

Supplementary material

464154_1_En_21_MOESM1_ESM.docx (416 kb)
Supplementary Table 1 Partial Pearson correlations, adjusted for treatment arm, across all study measures (DOCX 17 kb)
464154_1_En_21_MOESM2_ESM.docx (416 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)
464154_1_En_21_MOESM3_ESM.docx (416 kb)
Supplementary Figure 1 Measure spaghetti plots by participants and treatment arm (DOCX 412 kb)

References

  1. Achenbach TM, Rescorla LA (2003) Manual for the ASEBA adult forms and profiles. University of Vermont, Research Center for Children, Youth, and Families, Burlington. www.aseba.org Google Scholar
  2. Ali N, Cagle S (2015) Psychological health in adults with Morquio syndrome. JIMD Rep 20:87–93CrossRefPubMedCentralPubMedGoogle Scholar
  3. Arends M, Hollak CEM, Biegstraaten M (2015) Quality of life in patients with Fabry disease: a systemic review of the literature. Orphanet J Rare Dis 10:77CrossRefPubMedCentralPubMedGoogle Scholar
  4. Badger T, Segrin C, Meek P, Lopez AM, Bonham E, Sieger A (2005) Telephone interpersonal counseling with women with breast cancer – symptom management and quality of life. Oncol Nurs Forum 32(2):273–279CrossRefPubMedGoogle Scholar
  5. Bolsover FE, Murphy E, Cipolotti L, Werring DJ, Lachmann RH (2014) Cognitive dysfunction and depression in Fabry disease: a systemic review. J Inherit Metab Dis 37(2):177–187CrossRefPubMedGoogle Scholar
  6. Campbell LC, Clauw DJ, Keefe FJ (2003) Persistent pain and depression: a biopsychosocial perspective. Biol Psychiatry 54(3):399–409CrossRefPubMedGoogle Scholar
  7. Choi NG, Hegel MT, Marti CN, Narinucci ML, Sirrianni L, Bruce ML (2014a) Telehealth problem-solving therapy for depressed low-income homebound older adults – acceptance and preliminary efficacy. Am J Geriatr Psychiatr 22(3):263–271CrossRefGoogle Scholar
  8. Choi NG, Wilson NL, Sirrianni L, Marinucci ML, Hegel MT (2014b) Acceptance of home-based telehealth problem-solving therapy for depressed, low-income homebound older adults: qualitative interviews with the participants and aging-service case managers. Gerontologist 54(4):704–713CrossRefPubMedGoogle Scholar
  9. Cleeland CS (2009) The brief pain inventory user guide. MD Anderson Cancer Center, HoustonGoogle Scholar
  10. Cole AL, Lee PJ, Hughes DA, Deegan PB, Waldeck S, Lachmann RH (2007) Depression in adults with Fabry disease: a common and underdiagnosed problem. J Inherit Metab Dis 30:943–951CrossRefPubMedGoogle Scholar
  11. Crosbie TW, Packman W, Packman S (2009) Psychological aspects of patients with Fabry disease. J Inherit Metab Dis 32:745–753CrossRefPubMedGoogle Scholar
  12. Deen T, Fortney J, Schroeder G (2013) Patient acceptance, initiation, and engagement in telepsychotherapy in primary care. Psychiatr Serv 64(4):380–384CrossRefPubMedCentralPubMedGoogle Scholar
  13. Dersh J, Polatin PB, Gatchel RJ (2002) Chronic pain and psychopathology: research findings and theoretical considerations. Psychosom Med 64:773–786PubMedGoogle Scholar
  14. Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP et al (2003) Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138:338–346CrossRefPubMedGoogle Scholar
  15. Donnelly JM, Kornblith AB, Fleishman S, Zuckerman E, Raptis G et al (2000) A pilot study of interpersonal psychotherapy by telephone with cancer patients and their partners. Psycho-Oncol 9:44–56CrossRefGoogle Scholar
  16. Eisenberger NI (2012) The pain of social disconnection: examining the shared neural underpinnings of physical and social pain. Nat Rev Neurosci 13(6):421–434CrossRefPubMedGoogle Scholar
  17. Germain V, Marchand A, Bouchard S, Guay S, Drouin M (2010) Assessment of the therapeutic alliance in face-to-face or videoconference treatment for posttraumatic stress disorder. Cyberpsychol Behav Soc Netw 13(1):29–35CrossRefPubMedGoogle Scholar
  18. Gold KF, Pastores GM, Botteman MF et al (2002) Quality of life of patients with Fabry disease. Qual Life Res 11:317–327CrossRefPubMedGoogle Scholar
  19. Grosse SD, Schechter MS, Kulkarni R et al (2009) Models of comprehensive multidisciplinary care for individuals in the United States with genetic disorders. Pediatrics 123:407–412CrossRefPubMedGoogle Scholar
  20. Hilty DM, Ferrer DC, Parish MB, Johnston B, Callahan EJ, Yellowlees PM (2013) The effectiveness of telemental health: a 2013 review. Telemed J E Health 19(6):444–454CrossRefPubMedCentralPubMedGoogle Scholar
  21. Himelhoch S, Medoff D, Maxfield J et al (2013) Telephone based cognitive behavioral therapy targeting major depression among urban dwelling, low income people living with HIV/AIDS: results of a randomized controlled trial. AIDS Behav 17:2756–2764CrossRefPubMedGoogle Scholar
  22. Hoffmann B, Garcia de Lorenzo A, Mehta A et al (2005) Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey). J Med Genet 42:247–252CrossRefPubMedCentralPubMedGoogle Scholar
  23. Hollon S, Munoz RF, Barlow DH, Beardslee WR, Bell CC, Bernal G et al (2002) Psychosocial intervention development for the prevention and treatment of depression: promoting innovation and increasing access. Biol Psychiatry 52:610–630CrossRefPubMedGoogle Scholar
  24. Hopkins PV, Campbell C, Klug T et al (2015) Lysosomal storage disorder screening implementation: finding from the first six months of full population pilot testing in Missouri. J Pediatr 166(1):172–177CrossRefPubMedGoogle Scholar
  25. Hughes DA, Evans S, Milligan A et al (2006) A multidisciplinary approach to the care of patients with Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G (eds) Fabry disease: perspectives from 5 years of FOS. Oxford PharmaGenesis, OxfordGoogle Scholar
  26. Jenkins-Guarnieri MA, Pruitt LD, Luxton DD, Johnson K (2015) Patient perceptions of telemental health: systematic review of direct comparisons to in-person psychotherapeutic treatments. Telemed J E Health 21(8):1–9CrossRefGoogle Scholar
  27. Katon WJ (2003) Clinical and health services relationships between major depression, depressive symptoms, and general medical illness. Biol Psychiatry 54:216–226CrossRefPubMedGoogle Scholar
  28. Katon W, Ciechanowski P (2002) Impact of major depression on chronic medical illness. J Psychosom Res 53:859–863CrossRefPubMedGoogle Scholar
  29. Laney DA, Gruskin DJ, Fernhoff PM et al (2010) Social-adaptive and psychological functioning of patients affected by Fabry disease. J Inherit Metab Dis 33(Suppl 3):S73–S81CrossRefPubMedGoogle Scholar
  30. Laney DA, Bennett RL, Clarke V, Fox A, Hopkin RJ, Johnson J et al (2013) Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns 22:555–564CrossRefPubMedGoogle Scholar
  31. Laney DA, Peck DS, Atherton AM et al (2015) Fabry disease in infancy and early childhood: a systematic literature review. Genet Med 17(5):323–330CrossRefPubMedGoogle Scholar
  32. L­hle M, Hughes D, Milligan A et al (2015) Clinical prodromes of neurodegeneration in Anderson-Fabry disease. Neurology 84:1454–1464CrossRefGoogle Scholar
  33. MacDermot KD, Holmes A, Miners AH (2001) Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 38:769–775CrossRefPubMedCentralPubMedGoogle Scholar
  34. Maruish ME, DeRosa MA (2009) A guide to the integration of certified Short Form survey scoring and data quality evaluation capabilities. QualityMetric Incorporated, LincolnGoogle Scholar
  35. Maruish ME, Kosinski M (2009) A guide to the development of certified short form interpretation and reporting capabilities. QualityMetric Incorporated, LincolnGoogle Scholar
  36. Mohr DC, Hart SL, Julian L, Catledge C et al (2005) Telephone-administered psychotherapy for depression. Arch Gen Psychiatry 62:1007–1014CrossRefPubMedGoogle Scholar
  37. Mohr DC, Hart SL, Vella L (2007) Reduction in disability in a randomized controlled trial of telephone-administered cognitive-behavioral therapy. Health Psychol 26(5):554–563CrossRefPubMedGoogle Scholar
  38. Mohr DC, Ho JH, Duffecy J, Reifler D et al (2012) Effect of telephone-administered vs in-person cognitive behavioral therapy on adherence to therapy and depression outcomes among primary care patients. JAMA 307(21):2278–2285CrossRefPubMedCentralPubMedGoogle Scholar
  39. Schermuly I, Muller MJ, Muller KM, Albrecht J, Keller I et al (2011) Neuropsychiatric symptoms and brain structural alterations in Fabry disease. Eur J Neurol 18:357–353CrossRefGoogle Scholar
  40. Sigmundsdottier L, Tchan MC, Knopman AA, Menzies GC et al (2014) Cognitive and psychological functioning in Fabry disease. Arch Clin Neuropsychol 29:642–650CrossRefGoogle Scholar
  41. Staretz-Chacham O, Choi JH, Wakabayashi K et al (2010) Psychiatric and behavioral manifestations of lysosomal storage disorders. Am J Med Genet B Neuropsychiatr Genet 153B:1253–1265CrossRefPubMedGoogle Scholar
  42. Stiles-Shields C, Kwasny MJ, Cai X, Mohr DC (2014) Therapeutic alliance in face-to-face and telephone-administered cognitive behavioral therapy. J Consult Clin Psychol 82:349–354CrossRefPubMedCentralPubMedGoogle Scholar
  43. Wang RY, Lelis A, Mirocha J, Wilcox WR (2007) Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med 9(1):34–45CrossRefPubMedGoogle Scholar
  44. Watt T, Burlina AP, Cazzorla C et al (2010) Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry Registry. Genet Med 12:703–712CrossRefPubMedGoogle Scholar
  45. Weber SL, Segal S, Packman W (2012) Inborn errors of metabolism: psychosocial challenges and proposed family systems model of intervention. Mol Genet Metab 105:537–541CrossRefPubMedGoogle Scholar
  46. Weinreb N, Barranger J, Packman S et al (2007) Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease. Clin Genet 71(6):576–588CrossRefPubMedGoogle Scholar
  47. West M, LeMoine K (2007) Withdrawal of enzyme replacement therapy in Fabry disease: indirect evidence of treatment benefit? Mol Genet Metab 92(4):32CrossRefGoogle Scholar
  48. Wilcox WR, Oliveira JP, Hopkin RJ et al (2008) Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 93:112–128CrossRefPubMedGoogle Scholar

Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2017

Authors and Affiliations

  1. 1.Department of Human GeneticsEmory University School of MedicineAtlantaUSA
  2. 2.Department of PediatricsEmory University School of MedicineAtlantaUSA

Personalised recommendations