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Psychological Health in Adults with Morquio Syndrome

  • Nadia Ali
  • S. Cagle
Research Report
Part of the JIMD Reports book series (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.

Keywords

Morquio Mucopolysaccharidosis Psychological health Quality of life 

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

Notes

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.

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  1. 1.Department of Human GeneticsEmory UniversityAtlantaUSA

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