Literature DB >> 27617155

The Psychosocial Impact of Fabry Disease on Pediatric Patients.

Nicolle Bugescu1, Paige E Naylor1, Kyr Hudson1, Christa D Aoki1, Matthew J Cordova1, Wendy Packman1.   

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.

Entities:  

Keywords:  Fabry disease; inborn error of metabolism; pediatric; psychosocial functioning

Year:  2016        PMID: 27617155      PMCID: PMC4999331          DOI: 10.1055/s-0036-1584357

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN: 2146-460X


  26 in total

1.  Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary study.

Authors:  Perri Segal; Yoav Kohn; Yehuda Pollak; Gheona Altarescu; Esti Galili-Weisstub; Annick Raas-Rothschild
Journal:  J Inherit Metab Dis       Date:  2010-06-15       Impact factor: 4.982

2.  The PedsQL in pediatric rheumatology: reliability, validity, and responsiveness of the Pediatric Quality of Life Inventory Generic Core Scales and Rheumatology Module.

Authors:  James W Varni; Michael Seid; Tara Smith Knight; Tasha Burwinkle; Joy Brown; Ilona S Szer
Journal:  Arthritis Rheum       Date:  2002-03

3.  Depression in adults with Fabry disease: a common and under-diagnosed problem.

Authors:  A L Cole; P J Lee; D A Hughes; P B Deegan; S Waldek; R H Lachmann
Journal:  J Inherit Metab Dis       Date:  2007-11-12       Impact factor: 4.982

Review 4.  Depression in pediatric chronic illness. A diathesis-stress model.

Authors:  P Burke; M Elliott
Journal:  Psychosomatics       Date:  1999 Jan-Feb       Impact factor: 2.386

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

Authors:  Dawn Alyssia Laney; Daniel J Gruskin; Paul M Fernhoff; Joseph F Cubells; Opal Y Ousley; Heather Hipp; Ami J Mehta
Journal:  J Inherit Metab Dis       Date:  2010-01-20       Impact factor: 4.982

Review 6.  A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance.

Authors:  L van der Tol; B E Smid; B J H M Poorthuis; M Biegstraaten; R H Lekanne Deprez; G E Linthorst; C E M Hollak
Journal:  J Med Genet       Date:  2013-08-06       Impact factor: 6.318

7.  Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey.

Authors:  A Mehta; R Ricci; U Widmer; F Dehout; A Garcia de Lorenzo; C Kampmann; A Linhart; G Sunder-Plassmann; M Ries; M Beck
Journal:  Eur J Clin Invest       Date:  2004-03       Impact factor: 4.686

Review 8.  Cognitive dysfunction and depression in Fabry disease: a systematic review.

Authors:  Fay E Bolsover; Elaine Murphy; Lisa Cipolotti; David J Werring; Robin H Lachmann
Journal:  J Inherit Metab Dis       Date:  2013-08-16       Impact factor: 4.982

Review 9.  Fabry disease.

Authors:  Dominique P Germain
Journal:  Orphanet J Rare Dis       Date:  2010-11-22       Impact factor: 4.123

10.  Late onset variants in Fabry disease: Results in high risk population screenings in Argentina.

Authors:  G Serebrinsky; M Calvo; S Fernandez; S Saito; K Ohno; E Wallace; D Warnock; H Sakuraba; J Politei
Journal:  Mol Genet Metab Rep       Date:  2015-06-07
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  7 in total

Review 1.  Left to themselves: Time to target chronic pain in childhood rare diseases.

Authors:  Christine B Sieberg; Alyssa Lebel; Erin Silliman; Scott Holmes; David Borsook; Igor Elman
Journal:  Neurosci Biobehav Rev       Date:  2021-03-24       Impact factor: 8.989

2.  Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients.

Authors:  Dominique P Germain; Alain Fouilhoux; Stéphane Decramer; Marine Tardieu; Pascal Pillet; Marc Fila; Serge Rivera; Georges Deschênes; Didier Lacombe
Journal:  Clin Genet       Date:  2019-06-06       Impact factor: 4.438

3.  Neuropsychiatric Symptoms and Their Association With Sex, Age, and Enzyme Replacement Therapy in Fabry Disease: A Systematic Review.

Authors:  Magdalena Mroczek; Ignazio Maniscalco; Manon Sendel; Ralf Baron; Erich Seifritz; Albina Nowak
Journal:  Front Psychiatry       Date:  2022-03-16       Impact factor: 4.157

Review 4.  Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review.

Authors:  Carlota Pascoal; Sandra Brasil; Rita Francisco; Dorinda Marques-da-Silva; Agnes Rafalko; Jaak Jaeken; Paula A Videira; Luísa Barros; Vanessa Dos Reis Ferreira
Journal:  Orphanet J Rare Dis       Date:  2018-11-28       Impact factor: 4.123

5.  Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients.

Authors:  Amy Kritzer; Aishwarya Siddharth; Kate Leestma; Olaf Bodamer
Journal:  Mol Genet Metab Rep       Date:  2019-10-19

6.  Cognitive functioning and depressive symptoms in Fabry disease: A follow-up study.

Authors:  Simon Körver; Gert J Geurtsen; Carla E M Hollak; Ivo N van Schaik; Maria G F Longo; Marjana R Lima; Marcel G W Dijkgraaf; Mirjam Langeveld
Journal:  J Inherit Metab Dis       Date:  2020-06-25       Impact factor: 4.982

7.  Health-related quality of life in children and adolescents living with Gaucher disease and their parents.

Authors:  Eduardo Remor; Antonio Baldellou
Journal:  Health Psychol Behav Med       Date:  2018-04-12
  7 in total

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