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Psychological Health in Adults with Morquio Syndrome

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Book cover JIMD Reports, Volume 20

Part of the book series: JIMD Reports ((JIMD,volume 20))

Abstract

Mucopolysaccharidosis type IV (MPSIV), also known as Morquio syndrome, is a progressive genetic condition which predominantly affects skeletal development. Research thus far has focused on physical manifestations, with little attention to psychological characteristics. As a first step in determining the natural occurrence of psychological symptoms in this population, we administered Achenbach measures of psychological functioning (ASEBA ASR and OASR), quality of life (SF-36), and pain severity (BPI) questionnaires to 20 adults with Morquio syndrome. 11/20 subjects (55%) scored within the symptomatic range on at least one or more ASEBA problem scales. These subjects also had higher pain severity scores (p = 0.051) and pain interference scores (p = 0.03) on the BPI. However, subjects with psychological symptoms did not differ significantly on QOL measures from those without psychological symptoms. Overall, subjects scored below the US mean only in physical health QOL (p < 0.001) on the SF-36, not mental health QOL. Implications of this study include the need for greater attention to psychological health in persons with Morquio syndrome, including regular assessment for psychological symptoms in addition to the quality of life measures typically used, as the latter may miss important information. Greater attention to psychological symptoms may help maximize overall health in adults with Morquio syndrome. Comparison with psychological studies on other lysosomal storage diseases suggests these results may be disease specific, rather than the result of living with chronic pain or having an LSD in general.

Competing interests: None declared

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Abbreviations

ASEBA:

Achenbach system of empirically based assessment

ASR:

Adult self-report

BPI:

Brief pain inventory

LSD:

Lysosomal storage disease

MPS:

Mucopolysaccharidosis

OASR:

Older adult self-report

PI:

Pain interference

PS:

Pain severity

QOL:

Quality of life

SAF:

Social-adaptive functioning

References

  • Achenbach TM, Rescorla LA (2003) Manual for the ASEBA adult forms and profiles. University of Vermont, Research Center for Children, Youth, and Families, Burlington, VT, www.aseba.org

  • Bax MC, Colville GA (1995) Behaviour in mucopolysaccharide disorders. Arch Dis Child 73:77–81

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • 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):177–187

    Article  PubMed  Google Scholar 

  • Cleeland CS (2009) The brief pain inventory user guide. MD Anderson Cancer Center, Houster, TX

    Google Scholar 

  • Cleeland CS, Ryan KM (1994) Pain assessment: global use of the brief pain inventory. Ann Acad Med Singapore 23:129–138

    CAS  PubMed  Google Scholar 

  • 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 30:943–951

    Article  CAS  PubMed  Google Scholar 

  • Crosbie TW, Packman W, Packman S (2009) Psychological aspects of patients with Fabry disease. J Inherit Metab Dis 32:745–753

    Article  PubMed  Google Scholar 

  • Davison JE, Kearney S, Horton J et al (2012) Intellectual and neurological functioning in Morquio syndrome (MPS IVA). J Inhert Metab Dis 36(2):323–328

    Article  Google Scholar 

  • Gold KF, Pastores GM, Botteman MF et al (2002) Quality of life of patients with Fabry disease. Qual Life Res 11:317–327

    Article  CAS  PubMed  Google Scholar 

  • Grewal RP (1993) Psychiatric disorders in patients with Fabry’s disease. Int J Psychiatry Med 23:307–312

    Article  CAS  PubMed  Google Scholar 

  • Hendriksz C, Lavery C, Coker M et al (2014) Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey. Orphanet J Rare Dis 9:32

    Article  PubMed Central  PubMed  Google Scholar 

  • 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 42:247–252

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Katon W, Russo J, Lin EH et al (2009) Diabetes and poor disease control: is comorbid depression associated with poor medication adherence or lack of treatment intensification? Psychosom Med 71(9):965–972

    Article  PubMed Central  PubMed  Google Scholar 

  • Khawaja IS, Westermeyer JJ, Gajwani P, Feinstein RE (2009) Depression and coronary artery disease: the association, mechanisms, and therapeutic implications. Psychiatry (Edgmont) 6:38–51

    Google Scholar 

  • Kuratsubo I, Suzuki Y, Orii KO et al (2009) Psychological status of patients with Mucopolysaccharidosis type II and their parents. Pediatr Int 51:41–47

    Article  PubMed  Google Scholar 

  • 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–S81

    Article  PubMed  Google Scholar 

  • Maruish ME, DeRosa MA (2009) A guide to the integration of certified Short Form survey scoring and data quality evaluation capabilities. QualityMetric Incorporated, Lincoln, RI

    Google Scholar 

  • Maruish ME, Kosinski M (2009) A guide to the development of certified Short Form interpretation and reporting capabilities. QualityMetric Incorporated, Lincoln, RI

    Google Scholar 

  • Masek BJ, Sims KB, Bove CM, Korson MS, Short P, Norman DK (1999) Quality of life assessment in adults with type 1 Gaucher disease. Qual Life Res 8:263–268

    Article  CAS  PubMed  Google Scholar 

  • Northover H, Cowie RA, Wraith JE (1996) Mucopolysaccharidosis type IVA (Morquio syndrome): a clinical review. J Inherit Metab Dis 19(3):357–365

    Article  CAS  PubMed  Google Scholar 

  • Packman W, Crosbie TW, Riesner A, Fairley C, Packman S (2006) Psychological complications of patients with Gaucher disease. J Inherit Metab Dis 29:99–105

    Article  CAS  PubMed  Google Scholar 

  • Tomatsu S, Montano AM, Oikawa H et al (2011) Mucopolysaccaridosis type IVA (Morquio A disease): clinical review and current treatment: a special review. Curr Pharm Biotechnol 12(6):931–945

    Article  CAS  PubMed  Google Scholar 

  • 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):34–45

    Article  CAS  PubMed  Google Scholar 

  • 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 12:703–712

    Article  CAS  PubMed  Google Scholar 

  • 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):576–588

    Article  CAS  PubMed  Google Scholar 

  • 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 93:112–128

    Article  CAS  PubMed  Google Scholar 

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Acknowledgments

The authors thank John Hanfelt in the Emory University Department of Biostatistics and Bioinformatics in the Rollins school of Public Health for his assistance with statistical analysis. They also thank all the individuals who participated in this study for being willing to share their lives and experiences for the sake of increasing knowledge about Morquio syndrome.

Supported 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.

Author information

Authors and Affiliations

  1. Department of Human Genetics, Emory University, 2165 North Decatur Rd, Atlanta, GA, 30033, USA

    Nadia Ali & S. Cagle

Authors
  1. Nadia Ali
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  2. S. Cagle
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Corresponding author

Correspondence to Nadia Ali .

Editor information

Editors and Affiliations

  1. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  2. Division for Metabolic Diseases, University Children´s Hospital, Zürich, Switzerland

    Matthias Baumgartner

  3. Tulane University Medical School, New Orleans, Louisiana, USA

    Eva Morava

  4. Division of Child and Adolescent Neurolo, Mayo Clinic, Rochester, USA

    Marc Patterson

  5. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, United Kingdom

    Shamima Rahman

  6. Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany

    Verena Peters

Additional information

Communicated by: Daniela Karall

Appendices

1-Sentence Take Home Message

Many adults with Morquio syndrome exhibit psychological symptoms which may currently be overlooked during treatment of physical disease manifestations.

Compliance with Ethical Guidelines

Contributions of Individual Authors

Nadia Ali, Ph.D., is responsible for the conception and design of the research, data collection, data preparation and interpretation, and writing the original and finals drafts of the manuscript to be submitted for publication. She is the guarantor.

Stephanie Cagle, MS, assisted with some of the data collection and reviewed the article before submission for publication.

Conflict of Interest

Nadia Ali, Ph.D., has received research grants and a speaker honorarium from BioMarin Pharmaceuticals.

Stephanie Cagle, MS, declares that she has no conflict of interest.

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.

Funding Source

BioMarin

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© 2014 SSIEM and Springer-Verlag Berlin Heidelberg

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Ali, N., Cagle, S. (2014). Psychological Health in Adults with Morquio Syndrome. In: Zschocke, J., Baumgartner, M., Morava, E., Patterson, M., Rahman, S., Peters, V. (eds) JIMD Reports, Volume 20. JIMD Reports, vol 20. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2014_396

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  • DOI: https://doi.org/10.1007/8904_2014_396

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-46699-5

  • Online ISBN: 978-3-662-46700-8

  • eBook Packages: MedicineMedicine (R0)

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