title: Social-adaptive and psychological functioning of patients affected by Fabry disease.
abstract: 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.
authors.affiliation: Department of Human Genetics, Emory University, 2165 North Decatur Road, Decatur, GA 30033, USA. dawn.laney@emory.edu
authors.forename: Dawn Alyssia
authors.initials: DA
authors.lastname: Laney
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Gruskin
authors.forename: Paul M
authors.initials: PM
authors.lastname: Fernhoff
authors.forename: Joseph F
authors.initials: JF
authors.lastname: Cubells
authors.forename: Opal Y
authors.initials: OY
authors.lastname: Ousley
authors.forename: Heather
authors.initials: H
authors.lastname: Hipp
authors.forename: Ami J
authors.initials: AJ
authors.lastname: Mehta
mesh_terms: D000203:Activities of Daily Living; D000223:Adaptation, Psychological; D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000374:Aggression; D000987:Antisocial Personality Disorder / Q000453:epidemiology / Q000523:psychology; D001007:Anxiety / Q000453:epidemiology / Q000523:psychology; D001289:Attention Deficit Disorder with Hyperactivity / Q000453:epidemiology / Q000523:psychology; D057189:Checklist; D003863:Depression / Q000453:epidemiology / Q000523:psychology; D000795:Fabry Disease / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000523:psychology*; D005260:Female; D033062:Friends / Q000523:psychology; D005845:Georgia / Q000453:epidemiology; D006801:Humans; D007175:Impulsive Behavior / Q000453:epidemiology / Q000523:psychology; D007398:Interpersonal Relations; D008297:Male; D008603:Mental Health; D008875:Middle Aged; D011237:Predictive Value of Tests; D015995:Prevalence; D011569:Psychiatric Status Rating Scales; D012307:Risk Factors; D057566:Self Report; D012737:Sex Factors; D012917:Social Adjustment; D018454:Spouses / Q000523:psychology; D055815:Young Adult