The Psychosocial Impact of Fabry Disease on Pediatric Patients

 

 Buy Article Permissions and Reprints

Abstract

Fabry disease (FD) is a multisystemic disease that has previously been reported to result in poorer quality of life and psychosocial functioning in impacted adults. However, prior to the current study, limited data were available on the impact of FD in children and adolescents. Therefore, the present study examined the differences of quality of life, psychosocial functioning, and depression in children with FD as compared with a healthy sample. Results indicated that children with FD were experiencing poorer quality of life than their healthy counterparts. Notably, results consistently identified adolescents with FD as more heavily impacted than younger children, although not to the same degree as adults with FD as reported in previous studies. Therefore, adolescence may be a critical point in the development of individuals with FD during which effective multidisciplinary interventions could be utilized to prevent poor quality of life and psychosocial functioning in adulthood.

• References

• 1 Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M ; European FOS Investigators. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet 2006; 43 (4) 347-352
  PubMedGoogle Scholar
• 2 Laney DA, Peck DS, Atherton AM , et al. Fabry disease in infancy and early childhood: a systematic literature review. Genet Med 2015; 17 (5) 323-330
  CrossrefPubMedGoogle Scholar
• 3 van der Tol L, Smid BE, Poorthuis BJHM , et al. A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance. J Med Genet 2014; 51 (1) 1-9
  CrossrefPubMedGoogle Scholar
• 4 Clarke JTR, Iwanochko RM. Enzyme replacement therapy of Fabry disease. Mol Neurobiol 2005; 32 (1) 43-50
  CrossrefPubMedGoogle Scholar
• 5 Mehta A, Ricci R, Widmer U , et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004; 34 (3) 236-242
  CrossrefPubMedGoogle Scholar
• 6 Segal P, Kohn Y, Pollak Y, Altarescu G, Galili-Weisstub E, Raas-Rothschild A. Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary study. J Inherit Metab Dis 2010; 33 (4) 429-436
  PubMedGoogle Scholar
• 7 Burlina AP, Sims KB, Politei JM , et al. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel. BMC Neurol 2011; 11 (1) 61
  CrossrefPubMedGoogle Scholar
• 8 Desnick RJ, Brady R, Barranger J , et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003; 138 (4) 338-346
  CrossrefPubMedGoogle Scholar
• 9 Hopkin RJ, Jefferies JL, Laney DA , et al. The management and treatment of children with Fabry disease: a United States-based perspective. Molec Genet Metab 2015; ; online
  PubMedGoogle Scholar
• 10 Serebrinsky G, Calvo M, Fernandez S , et al. Late onset variants in Fabry disease: Results in high risk population screenings in Argentina. Mol Genet Metab Rep 2015; 4: 19-24
  PubMedGoogle Scholar
• 11 Linthorst GE, Bouwman MG, Wijburg FA, Aerts JM, Poorthuis BJ, Hollak CE. Screening for Fabry disease in high-risk populations: a systematic review. J Med Genet 2010; 47 (4) 217-222
  CrossrefPubMedGoogle Scholar
• 12 Germain DP. Fabry disease. Orphanet J Rare Dis 2010; 5 (30) 30
  CrossrefPubMedGoogle Scholar
• 13 Bolsover FE, Murphy E, Cipolotti L, Werring DJ, Lachmann RH. Cognitive dysfunction and depression in Fabry disease: a systematic review. J Inherit Metab Dis 2014; 37 (2) 177-187
  CrossrefPubMedGoogle Scholar
• 14 Banikazemi M. Fabry disease in pediatric patients. In: Elstein D, Altarescu G, Beck M, eds. Fabry Disease. Dordrecht: The Netherlands Springer; 2010: 353-364
  CrossrefGoogle Scholar
• 15 MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001; 38 (11) 750-760
  CrossrefPubMedGoogle Scholar
• 16 Burke P, Elliott M. Depression in pediatric chronic illness. A diathesis-stress model. Psychosomatics 1999; 40 (1) 5-17
  CrossrefPubMedGoogle Scholar
• 17 Varni JW, Seid M, Rode CA. The PedsQL: measurement model for the pediatric quality of life inventory. Med Care 1999; 37 (2) 126-139
  CrossrefPubMedGoogle Scholar
• 18 Varni JW, Seid M, Kurtin PS. PedsQL 4.0: reliability and validity of the Pediatric Quality of Life Inventory version 4.0 generic core scales in healthy and patient populations. Med Care 2001; 39 (8) 800-812
  CrossrefPubMedGoogle Scholar
• 19 Reynolds CR, Kamphaus RW. Behavior Assessment System for Children. 2nd ed. Circle Pines, MN: American Guidance Service; 2004
  Google Scholar
• 20 Tan CS. Test Review Behavior assessment system for children (2nd ed). Assessment for Effective Intervention 2007; 32 (2) 121-124
  CrossrefPubMedGoogle Scholar
• 21 Kovacs M. Rating scales to assess depression in school-aged children. Acta Paedopsychiatr 1981; 46 (5–6): 305-315
  PubMedGoogle Scholar
• 22 Varni JW, Burwinkle TM, Katz ER, Meeske K, Dickinson P. The PedsQL™ in pediatric cancer. Cancer 2002; 94 (7) 2090-2106
  CrossrefPubMedGoogle Scholar
• 23 Varni JW, Seid M, Smith Knight T, Burwinkle T, Brown J, Szer IS. The PedsQL™ in pediatric rheumatology: reliability, validity, and responsiveness of the Pediatric Quality of Life Inventory generic core scales and rheumatology module. Arthritis Rheum 2002; 46 (3) 714-725
  CrossrefPubMedGoogle Scholar
• 24 Müller M. Neuropsychiatric and psychosocial aspects of Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G, , eds. FD: Perspectives from 5 Years of FOS. Oxford, UK: Oxford PharmaGenesis; 2006
  Google Scholar
• 25 Ramaswami U, Whybra C, Parini R , et al; FOS European Investigators. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr 2006; 95 (1) 86-92
  PubMedGoogle Scholar
• 26 Cole AL, Lee PJ, Hughes DA, Deegan PB, Waldek S, Lachmann RH. Depression in adults with Fabry disease: a common and under-diagnosed problem. J Inherit Metab Dis 2007; 30 (6) 943-951
  CrossrefPubMedGoogle Scholar
• 27 Bennett DS. Depression among children with chronic medical problems: a meta-analysis. J Pediatr Psychol 1994; 19 (2) 149-169
  CrossrefPubMedGoogle Scholar
• 28 Laney DA, Gruskin DJ, Fernhoff PM , et al. Social-adaptive and psychological functioning of patients affected by Fabry disease. J Inherit Metab Dis 2010; 33 (3, Suppl 3): S73-S81
  CrossrefPubMedGoogle Scholar
• 29 Sirrs S. The Fabrazyme shortage—a call to action for metabolic physicians. Mol Genet Metab 2011; 102 (1) 4-5
  CrossrefPubMedGoogle Scholar
• 30 Hoffmann B, Garcia de Lorenzo A, Mehta A, Beck M, Widmer U, Ricci R ; FOS European Investigators. 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 2005; 42 (3) 247-252
  CrossrefPubMedGoogle Scholar