title: Impact of growing up with Fabry disease on achievement of psychosocial milestones and quality of life.
abstract: Little is known on the impact of growing up with Fabry disease (FD) on psychosocial development. Children with FD may suffer from severe recurrent pains in hands and feet, gastro-intestinal symptoms and heat intolerance. These symptoms may influence quality of life and may interfere with a normal psychosocial development. It is important to evaluate psychosocial outcomes of patients with FD into adulthood to be able to optimize support of children with FD. The current cross-sectional questionnaire study investigated psychosocial development and quality of life of 28 young adults with FD, aged 18-35 years (9 males, 19 females), using the Course of Life questionnaire and the Short Form-36 questionnaire for quality of life. The results were compared with an age-matched normative population. We found significant differences in the achievement of milestones in social development of male Fabry patients. The milestones that were affected were 'going out to bars' and 'participation in sports activities'. Other than that FD patients appear to be able to achieve a rather normal psychosocial development until adulthood. Quality of life was decreased in Fabry males in the domains of physical functioning and bodily pain and of general health perception in females.
authors.affiliation: Department of Pediatrics, Academic Medical Center and Amsterdam Lysosome Center, Sphinx, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. m.g.bouwman@amc.uva.nl
authors.forename: Machtelt G
authors.initials: MG
authors.lastname: Bouwman
authors.forename: Heleen
authors.initials: H
authors.lastname: Maurice-Stam
authors.forename: Gabor E
authors.initials: GE
authors.lastname: Linthorst
authors.forename: Carla E M
authors.initials: CE
authors.lastname: Hollak
authors.forename: Frits A
authors.initials: FA
authors.lastname: Wijburg
authors.forename: Martha A
authors.initials: MA
authors.lastname: Grootenhuis
mesh_terms: D000293:Adolescent; D000328:Adult; D000419:Albuminuria / Q000473:pathology; D000704:Analysis of Variance; D000794:Angiokeratoma / Q000473:pathology; D001921:Brain / Q000473:pathology; D002648:Child; D002657:Child Development; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000097:blood / Q000150:complications / Q000188:drug therapy / Q000503:physiopathology* / Q000523:psychology*; D005260:Female; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000209:etiology / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009426:Netherlands; D010292:Paresthesia / Q000473:pathology; D011788:Quality of Life; D012709:Serum Albumin; D012919:Social Behavior; D018709:Statistics, Nonparametric; D011795:Surveys and Questionnaires
chemical_list: D012709:Serum Albumin