Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study and Review of the Literature

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Impaired lipolysis in propionic acidemia: A new metabolic myopathy?

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Genotype and phenotype classification of 29 patients affected by Krabbe disease

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiency

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Association of maternal thyroid function with birthweight: a systematic review and individual-participant data meta-analysis

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Cardiomyopathy and kidney function in agalsidase beta-treated female Fabry patients: a pre-treatment vs. post-treatment analysis

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Semen quality in hypogonadal acromegalic patients

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

Fabry disease is a rare progressive X-linked lysosomal storage disorder which leads to neuropathic pain, organ dysfunction and cerebral pathology. Few studies have investigated cognitive impairment in Fabry disease and these previous studies are difficult to compare due to heterogeneous methodological designs and small cohorts. The objective was to investigate the frequency of cognitive impairment in the Danish nationwide cohort of Fabry patients. Further, we examined if subjective cognitive complaints were associated with objective cognitive performances in this patient group. Neuropsychological tests (17 measures) and evaluation of subjective complaints with the Perceived Deficits Questionnaire (PDQ) were applied in 41 of 63 patients. According to an a priori definition, 12 patients (29.3%) were cognitively impaired. Tests tapping psychomotor speed, attention and executive functions had the highest frequency of impairment. In general, disease related variables as Mainz Severity Score Index, enzyme activity and years since onset and depression did not have a significant impact on the categorisation of patients as being cognitively impaired or non-impaired. Thus, cognitive impairment in Fabry disease does not seem to occur solely by having symptoms for many years or by having high disease burden. However, impaired neuropsychological test results were significantly more common in patients with cerebrovascular disease. Only three patients had scores in the abnormal range of the PDQ scale and subjective perceptions of cognition were not associated with cognitive performances. The levels of subjective cognitive complaints were generally very low in the studied patients demonstrating that the absence of subjective cognitive complaints does not exclude the presence of objective cognitive problems.

OriginalsprogEngelsk
TidsskriftJIMD Reports
Vol/bind41
Sider (fra-til)73-80
ISSN2192-8304
DOI
StatusUdgivet - 2018

ID: 53788797