Background Fabry disease, an X-linked lysosomal storagedisorder, leads to multi-organ dysfunction, including cerebrovasculardisease and psychological disorders. However, theprevalence and pattern of associated cognitive dysfunction isnot well understood.Objectives To investigate whether there is reliable evidencefor neuropsychological impairment in patients with Fabrydisease and which cognitive domains are affected. To estimatethe prevalence of and factors associated with depression inpatients with Fabry disease.Method Qualitative systematic review of the literature ofstudies conducting neuropsychological assessment or measuringthe prevalence of depression in adults with Fabry diseaseusing the preferred reporting items for systematic reviews andmeta-analysis (PRISMA) guidelines where appropriate.Results There is some evidence for neuropsychological impairmentin Fabry disease in executive functioning, informationprocessing speed and attention, with preservation of:general intellectual functioning, memory, naming, perceptualfunctioning and global cognitive functioning. Prevalence ratesof depression in Fabry disease ranged from 15%to 62%,withthe largest study to date reporting a prevalence rate of 46 %.The most common factor associated with depression wasneuropathic pain, both directly and indirectly by affectingsocial and adaptive functioning.Conclusion Our review suggests that Fabry disease may beassociated with a characteristic pattern of cognitive deficits anda high prevalence of psychological disorders such as depressionbut highlights the limited available data. Exploring the nature ofcognitive impairment in Fabry disease using standardised neuropsychologicalassessment, brain imaging and measures ofdepression is an important task for future research.
|Numero di pagine||11|
|Rivista||Journal of Inherited Metabolic Disease|
|Stato di pubblicazione||Published - 2014|
All Science Journal Classification (ASJC) codes