title: Cognitive testing in Fabry disease: pilot using a brief computerized assessment tool.
abstract: BACKGROUND
  Recently, cognitive assessments of patients with Fabry disease highlighted neurocognitive impairment using test batteries that are time and labor intensive.
  
  
  OBJECTIVE
  To introduce a user-friendly self-administered tool for cognitive testing in patients with Fabry disease.
  
  
  METHODS
  We used a computerized system requiring about 1 hour for patient follow-up. All patients with enzymatic and/ or molecular diagnosis of Fabry disease seen in our clinic underwent assessment with the Fabry-specific Mainz Severity Score Index (MSSI) with subscores (neurological, renal, cardiac, and general) and a Mindstreams neurocognitive battery for mild impairment, evaluating memory, executive function, attention, information processing, visual spatial processing, verbal function, and motor skills. A Global Cognitive Score (GCS) was also computed.
  
  
  RESULTS
  Ten patients (3 males, 7 females) were tested (mean age 41.5, range 25-56 years). Males were younger, had moderate nephropathy and no cerebrovascular accident (CVA); their Mindstreams GCS was 85.6-107 points. Three females had mild-moderate (8,10,15 points) neurological MSSI subscores (two CVA); all females had Mindstreams GCS of 59-107.7 points. Below-average performance was prevalent, particularly in information processing and motor skills consistent with mild impairment. Average GCS in females (90.3 points) was lowerthan in males (98.2 points). For individual patients, performance was poorest in information processing (n = 4), attention (n = 2), motor skills (n = 2), verbal function (n = 1), and visual spatial processing (n = 1).
  
  
  CONCLUSIONS
  MindStreams may simplify cognitive assessment monitoring in Fabry disease.
authors.affiliation: Gaucher Clinic, Shaare Zedek Medical Center, P.O. Box 3235, Jerusalem, 91031, Israel.
authors.forename: Deborah
authors.initials: D
authors.lastname: Elstein
authors.forename: Glen M
authors.initials: GM
authors.lastname: Doniger
authors.forename: Gheona
authors.initials: G
authors.lastname: Altarescu
mesh_terms: D000328:Adult; D003071:Cognition; D003072:Cognition Disorders / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology; D001330:Electronic Data Processing / Q000379:methods*; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D010865:Pilot Projects