title: Cognitive and psychological functioning in Fabry disease.
abstract: Fabry disease is an X-linked lysosomal storage disorder which can result in renal, cardiac, and cerebrovascular disease. Patients are at increased risk of stroke and neuroimaging studies note cerebrovascular pathology. This study provides a cognitive profile of a cohort of individuals with Fabry disease and investigates the impact of pain, age, renal, cardiac, and cerebrovascular functioning on cognition and psychological functioning. Seventeen Fabry patients (12 males) with ages ranging 25 to 60 years (M = 46.6+11.8), and 15 age-matched healthy controls (M = 46.2+12.7) were administered a comprehensive neuropsychological battery. Fabry males demonstrated slower speed of information processing, reduced performance on measures of executive functions (verbal generation, reasoning, problem solving, perseveration), were more likely to show clinically significant reductions, and were more likely to report symptoms of anxiety and depression. Conversely, Fabry females performed at a similar level to controls. Correlational analyses indicated a link between cognitive and clinical measures of disease severity.
authors.affiliation: Department of Psychology, Macquarie University, Sydney, Australia lsigmundsdottir@med.usyd.edu.au.
authors.forename: Linda
authors.initials: L
authors.lastname: Sigmundsdottir
authors.affiliation: Department of Genetic Medicine, Westmead Hospital and Discipline of Genetic Medicine, Sydney Medical School, Sydney, Australia.
authors.forename: Michel C
authors.initials: MC
authors.lastname: Tchan
authors.affiliation: Department of Medical Psychology, Westmead Hospital, Sydney, Australia.
authors.forename: Alex A
authors.initials: AA
authors.lastname: Knopman
authors.affiliation: Department of Medical Psychology, Westmead Hospital, Sydney, Australia.
authors.forename: Graham C
authors.initials: GC
authors.lastname: Menzies
authors.affiliation: Department of Psychology, Macquarie University, Sydney, Australia.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Batchelor
authors.affiliation: Department of Genetic Medicine, Westmead Hospital and Discipline of Genetic Medicine, Sydney Medical School, Sydney, Australia.
authors.forename: David O
authors.initials: DO
authors.lastname: Sillence
mesh_terms: D000328:Adult; D001007:Anxiety / Q000523:psychology; D003072:Cognition Disorders / Q000175:diagnosis* / Q000209:etiology; D003863:Depression / Q000523:psychology; D056344:Executive Function / Q000502:physiology*; D000795:Fabry Disease / Q000150:complications* / Q000523:psychology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D011597:Psychomotor Performance / Q000502:physiology*; D012720:Severity of Illness Index; D012737:Sex Factors; D013315:Stress, Psychological / Q000523:psychology
keywords: Anxiety; Cognition; Depression; Fabry disease; Neuropsychology; Psychology