Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease.
OBJECTIVE
To investigate the spectrum and prevalence of cognitive deficits among children with type 3 (chronic neuronopathic) Gaucher disease (GD).


METHODS
A case review study identified 32 children (male/female; 17:15) with type 3 GD who had received enzyme replacement therapy (ERT) or a bone marrow transplant. The diagnosis of GD was established by enzymatic assay and DNA testing. Subjects were assessed with standard neuropsychological testing, and data from the most recent evaluation were included.


RESULTS
Neuropsychometric assessments demonstrated a wide spectrum of full-scale IQ scores ranging from 39 to 124 (mean 75). About 60% of subjects had intellectual skills below average. There were significant discrepancies between verbal and performance IQ, with a range between -6 and 38 points (P = .02). This gap was more prominent in older subjects, with better performance in the verbal areas. No correlation was observed between intelligence measures and genotype or the extent of systemic involvement. The dosage, age at initiation, and the length of ERT had no significant effect on IQ scores.


CONCLUSIONS
In type 3 GD, cognitive deficits, characterized by visual-spatial dysfunction, are common but underappreciated and appear resistant to ERT.
Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.
Ozlem
O
Goker-Alpan
Edythe A
EA
Wiggs
Michael J
MJ
Eblan
William
W
Benko
Shira G
SG
Ziegler
Ellen
E
Sidransky
Raphael
R
Schiffmann
D000293:Adolescent; D000328:Adult; D016026:Bone Marrow Transplantation; D002648:Child; D002675:Child, Preschool; D002908:Chronic Disease; D003071:Cognition; D005260:Female; D005776:Gaucher Disease / Q000188:drug therapy* / Q000473:pathology*; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D007223:Infant; D008297:Male; D009483:Neuropsychological Tests; D016896:Treatment Outcome
D005962:Glucosylceramidase