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Social-adaptive and psychological functioning of patients affected by Fabry disease

  • Research Report
  • Published:
Journal of Inherited Metabolic Disease

Summary

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the deficiency of alpha-galactosidase A. In addition to the debilitating physical symptoms of FD, there are also under-recognized and poorly characterized psychiatric features. As a first step toward characterizing psychiatric features of FD, we administered the Achenbach adult self report questionnaire to 30 FD patients and the Achenbach adult behavior checklist questionnaire to 28 partners/parents/friends of FD patients. Data from at least one of the questionnaires were available on 33 subjects. Analysis focused on social-adaptive functioning in various aspects of daily life and on criteria related to the Diagnostic and statistical manual of mental disorders IV (DSM-IV). Adaptive functioning scale values, which primarily measure social and relationship functioning and occupational success, showed that eight FD patients (six female and two male) had mean adaptive functioning deficits as compared to population norms. Greater rates of depression (P < 0.01), anxiety (P = 0.05), depression and anxiety (P = 0.03), antisocial personality (P < 0.001), attention-deficit/hyperactivity (AD/H; P < 0.01), hyperactivity–impulsivity (P < 0.01), and aggressive behavior (P = 0.03) were associated with poorer adaptive functioning. Decreased social-adaptive functioning in this study was not statistically significantly associated to disease severity, pain, or level of vitality. This study shows for the first time that FD patients, particularly women, are affected by decreased social-adaptive functioning. Comprehensive treatment plans for FD should consider assessments and interventions to evaluate and improve social, occupational, and psychological functioning. Attention to the behavioral aspects of FD could lead to improved treatment outcome and improved quality of life. Individuals affected by Fabry disease exhibited social-adaptive functioning deficits that were significantly correlated with anxiety, depression, antisocial behavior, and AD/H problems in a sampling of our male and female patients aged between 18 years and 59 years.

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Abbreviations

ABCL:

adult behavior checklist

AD/H:

attention-deficit/hyperactivity

ASEBA:

Achenbach system of empirically based assessment

ASR:

adult self report

BPI:

brief pain inventory

DSM-IV:

Diagnostic and statistical manual of mental disorders IV

ERT:

Enzyme Replacement Therapy

FD:

Fabry disease

α-gal A:

α-galactosidase A

GL3:

globotriaosylceramide

MSS:

Mainz severity score

SAFD:

social-adaptive functioning deficiency

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Acknowledgements

The authors thank Andrea Knezevic in the Emory University Department of Biostatistics in the Rollins School of Public Health for her assistance with statistical analysis. They also thank all the individuals who participated in this study for their candor on a difficult and personal subject.

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Authors and Affiliations

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

    Dawn Alyssia Laney, Paul M. Fernhoff, Joseph F. Cubells, Heather Hipp & Ami J. Mehta

  2. Genzyme Corporation, 500 Kendall Street, Cambridge, MA, 02421, USA

    Daniel J. Gruskin

  3. Department of Psychology, Emory University, 2165 North Decatur Road, Decatur, GA, 30033, USA

    Opal Y. Ousley

Authors
  1. Dawn Alyssia Laney
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  2. Daniel J. Gruskin
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  3. Paul M. Fernhoff
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  4. Joseph F. Cubells
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  5. Opal Y. Ousley
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  6. Heather Hipp
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  7. Ami J. Mehta
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Corresponding author

Correspondence to Dawn Alyssia Laney.

Additional information

Communicated by: Alberto B. Burlina

References to electronic databases: OMIM: Fabry disease: OMIM 301500, α-galactosidase A, EC 3.2.1.22

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Laney, D.A., Gruskin, D.J., Fernhoff, P.M. et al. Social-adaptive and psychological functioning of patients affected by Fabry disease. J Inherit Metab Dis 33 (Suppl 3), 73–81 (2010). https://doi.org/10.1007/s10545-009-9025-6

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  • DOI: https://doi.org/10.1007/s10545-009-9025-6

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