Journal of Inherited Metabolic Disease

, Volume 33, Supplement 3, pp 73–81 | Cite as

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

  • Dawn Alyssia Laney
  • Daniel J. Gruskin
  • Paul M. Fernhoff
  • Joseph F. Cubells
  • Opal Y. Ousley
  • Heather Hipp
  • Ami J. Mehta
Research Report


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.


Chronic Fatigue Syndrome Enzyme Replacement Therapy Fabry Disease Adaptive Functioning Brief Pain Inventory 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



adult behavior checklist




Achenbach system of empirically based assessment


adult self report


brief pain inventory


Diagnostic and statistical manual of mental disorders IV


Enzyme Replacement Therapy


Fabry disease

α-gal A

α-galactosidase A




Mainz severity score


social-adaptive functioning deficiency



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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Copyright information

© SSIEM and Springer-Verlag 2010

Authors and Affiliations

  • Dawn Alyssia Laney
    • 1
  • Daniel J. Gruskin
    • 2
  • Paul M. Fernhoff
    • 1
  • Joseph F. Cubells
    • 1
  • Opal Y. Ousley
    • 3
  • Heather Hipp
    • 1
  • Ami J. Mehta
    • 1
  1. 1.Department of Human GeneticsEmory UniversityDecaturUSA
  2. 2.Genzyme CorporationCambridgeUSA
  3. 3.Department of PsychologyEmory UniversityDecaturUSA

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