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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

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.

Keywords

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.

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

Notes

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.

References

  1. 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 Google Scholar
  2. Achenbach TM, Bernstein A, Dumenci L (2005) DSM-oriented scales and statistically based syndromes for ages 18 to 59: Linking taxonomic paradigms to facilitate multitaxonomic approaches. J Pers Assess 84:49–63PubMedCrossRefGoogle Scholar
  3. Beck M (2006) The Mainz severity score index (MSSI): development and validation of a system for scoring the signs and symptoms of Fabry disease. Acta Paediatr Suppl 95:43–46PubMedCrossRefGoogle Scholar
  4. Berenbaum SA, Bryk KK, Duck SC, Resnick SM (2004) Psychological adjustment in children and adults with congenital adrenal hyperplasia. J Pediatr 144:741–746PubMedGoogle Scholar
  5. Brady R, Grabowski GA, Thadhani R (2001) Fabry disease: Review and new perspective. SynerMed Communications 1:1–8Google Scholar
  6. Buysse CM, Raat H, Hazelzet JA et al (2007) Long-term psychosocial outcomes in survivors of meningococcal septic shock in childhood, and in their parents. Qual Life Res 16:1567–1576PubMedCrossRefGoogle Scholar
  7. Carpenter RE, Loo SK, Yang M, Dang J, Smalley SL (2009) Social functioning difficulties in ADHD: association with PDD risk. Clin Child Psychol Psychiatry 14:329–344CrossRefGoogle Scholar
  8. Cleeland CS (2002) Pain assessment: the advantages of using pain scales in lysosomal storage diseases. Acta Paediatr Suppl 91:43–47PubMedCrossRefGoogle Scholar
  9. Cleeland CS, Ryan KM (1994) Pain assessment: global use of the brief pain inventory. Ann Acad Med Singapore 23:129–138PubMedGoogle Scholar
  10. Cole A, Lee PJ, Hughes DA, Deegan PB, Waldek S, Lachmann RH (2007) Depression in adults with Fabry disease: a common and under-diagnosed problem. J Inherit Metab Dis 30:943–951PubMedCrossRefGoogle Scholar
  11. Compas BE, Boyer MC, Stanger C et al (2006) Latent variable analysis of coping, anxiety/depression, and somatic symptoms in adolescents with chronic pain. J Consult Clin Psychol 74:1132–1142PubMedCrossRefGoogle Scholar
  12. Cubells JF (2007) Beyond irritability and aggressive behavior: does risperidone improve adaptive behavior in autistic spectrum disorders? Curr Psychiatry Rep 9:132–133PubMedGoogle Scholar
  13. Desnick R, Brady R, Barranger J et al (2003) Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138:338–346PubMedCrossRefGoogle Scholar
  14. Gold K, Pastores GM, Botteman MF et al (2002) Quality of life of patients with Fabry disease. Qual Life Res 11:317–327PubMedCrossRefGoogle Scholar
  15. Gothelf D, Feinstein C, Thompson T et al (2007) Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome. Am J Psychiatry 164:663–669PubMedCrossRefGoogle Scholar
  16. Gray D, Parker-Cohen NY, White T, Clark ST, Seiner SHAJ, McMahon WM (2001) A comparison of individual and family psychology of adolescents with chronic fatigue syndrome, rheumatoid arthritis, and mood disorders. J Dev Behav Pediatr 22:234–242PubMedCrossRefGoogle Scholar
  17. Grewal R (1993) Psychiatric disorders in patients with Fabry disease. Int J Psychiatry Med 23:308–312CrossRefGoogle Scholar
  18. Hack M, Youngstrom EA, Cartar L et al (2004) Behavioral outcomes and evidence of psychopathology among very low birth weight infants at age 20 years. Pediatrics 114:932–940PubMedCrossRefGoogle Scholar
  19. Hinton VJ, Nereo NE, Fee RJ, Cyrulnik SE (2006) Social behavior problems in boys with Duchenne muscular dystrophy. J Dev Behav Pediatr 27:470–476PubMedCrossRefGoogle Scholar
  20. Hoffman 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 42:247–252CrossRefGoogle Scholar
  21. Hoffman B, Beck M, Sunder Plassman G et al (2007) Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy—a retrospective analysis from the Fabry outcome survey. Clin J Pain 23:535–542CrossRefGoogle Scholar
  22. Howe GW, Feinstein C, Reiss D, Molock S, Berger K (1993) Adolescent adjustment to chronic physical disorders: I. Comparing neurological and non-neurological conditions. J Child Psychol Psychiatry 34:1153–1171PubMedCrossRefGoogle Scholar
  23. Kampmann C, Wiethoff CM, Perrot A, Beck M, Dietz R, Osterziel KJ (2002) The heart in Anderson Fabry disease. Z Kardiol 91:786–795PubMedCrossRefGoogle Scholar
  24. 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 50:570–579Google Scholar
  25. Khawaja IS, Westermeyer JJ, Gajwani P, Feinstein RE (2009) Depression and coronary artery disease: the association, mechanisms, and therapeutic implications. Psychiatry (Edgmont) 6:38–51Google Scholar
  26. Klonsky ED (2002) Valid inferences from invalid tests? Am Psychol 57:990PubMedCrossRefGoogle Scholar
  27. MacDermot K, Holmes A, Miners AH (2001) Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 38:769–775PubMedCrossRefGoogle Scholar
  28. Miners A, Holmes A, Sherr L et al (2002) Assessment of health-related quality-of-life in males with Anderson Fabry disease before therapeutic intervention. Qual Life Res 11:127–133PubMedCrossRefGoogle Scholar
  29. Muller M, Muller KM, Dascalescu A et al (2005) Psychiatric and neuropsychological signs and symptoms in patients with Fabry disease: literature review. Fortschr Neurol Psychiatr 73:687–693PubMedCrossRefGoogle Scholar
  30. Mureau MAM, Slijper FME, Slob AK, Verhulst FC (1997) Psychosocial functioning of children, adolescents, and adults following hypospadias surgery: a comparative study. J Pediatr Psychol 22:371–387PubMedCrossRefGoogle Scholar
  31. RADAR (2009) The Fabry Registry Aggregate Data Annual Report (RADAR). Fabry registry. Genzyme Corporation, Boston, MAGoogle Scholar
  32. Roza SJ, Hofstra MB, van der Ende J, Verhulst FC (2003) Stable prediction of mood and anxiety disorders based on behavioral and emotional problems in childhood: a 14-year follow-up during childhood, adolescence, and young adulthood. Am J Psychiatry 160:2116–2121PubMedCrossRefGoogle Scholar
  33. Sadek J, Shellhaas R, Camfield CS, Camfield PR, Burley J (2004) Psychiatric findings in four female carriers of Fabry disease. Psychiatr Genet 14:199–201PubMedCrossRefGoogle Scholar
  34. Sbarra DA, Rimm-Kaufman SE, Pianta RC (2002) The behavioral and emotional correlates of epilepsy in adolescence: a 7-year follow-up. Epilepsy Behav 3:358–367PubMedCrossRefGoogle Scholar
  35. Schiffmann R, Scott LJ (2002) Pathophysiology and assessment of neuropathic pain in Fabry disease. Acta Paediatr Suppl 91:48–52PubMedCrossRefGoogle Scholar
  36. Stavro GM, Ettenhofer ML, Nigg JT (2007) Executive functions and adaptive functioning in young adult attention-deficit/hyperactivity disorder. J Int Neuropsychol Soc 13:324–334PubMedCrossRefGoogle Scholar
  37. Street N, Yi MS, Bailey LA, Hopkin RJ (2006) Comparison of health related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease. Genet Med 8:346–353PubMedCrossRefGoogle Scholar
  38. Todd RD, Huang H, Todorov AA, Neuman RJ, Reiersen AM, Henderson CA, Reich WC (2008) Predictors of stability of attention-deficit/hyperactivity disorder subtypes from childhood to young adulthood. J Am Acad Child Adolesc Psychiatry 47:76–85PubMedCrossRefGoogle Scholar
  39. van Grootheest DS, Cath DC, Beekman AT, Boomsma DI (2007) Genetic and environmental influences on obsessive-compulsive symptoms in adults: a population-based twin-family study. Psychol Med 37:1635–1644PubMedGoogle Scholar
  40. van Pareren YK, Duivenvoorden HJ, Slijper FME et al (2005) Psychosocial functioning after discontinuation of long-term growth hormone treatment in girls with Turner syndrome. Horm Res 63:238–244Google Scholar
  41. van Rijen EHM, Utens EMWJ, Roos-Hesselink JW et al (2004) Medical predictors for psychopathology in adults with operated congenital heart disease. Eur Heart J 25:1605–1613PubMedCrossRefGoogle Scholar
  42. Väistö T, Aronen ET, Simola P, Ashorn M, Kolho KL (2009) Psychosocial symptoms and competence among adolescents with inflammatory bowel disease and their peers. Inflamm Bowel Dis 16:27–35Google Scholar
  43. 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 9:34–45Google Scholar
  44. West M, LeMoine K (2007) Withdrawal of enzyme replacement therapy in Fabry disease: indirect evidence of treatment benefit? Mol Genet Metab 92:32CrossRefGoogle Scholar
  45. Whybra C, Kampmann C, Krummenauer F et al (2004) The Mainz severity score index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet 65:299–307PubMedCrossRefGoogle Scholar
  46. 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 93:112–128PubMedCrossRefGoogle Scholar

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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