Cognitive Outcome in Treated Patients with Chronic Neuronopathic Gaucher Disease

Goker-Alpan, Ozlem; Wiggs, Edythe A.; Eblan, Michael J.; Benko, William; Ziegler, Shira G.; Sidransky, Ellen; Schiffmann, Raphael

doi:10.1016/j.jpeds.2007.12.023

« Previous Next »The Journal of Pediatrics
Volume 153, Issue 1 , Pages 89-94.e4, July 2008

Cognitive Outcome in Treated Patients with Chronic Neuronopathic Gaucher Disease

Ozlem Goker-Alpan, MD
- Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD
Edythe A. Wiggs, PhD
- Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD.
Michael J. Eblan, BA
- Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD
William Benko, MD
- Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD.
Shira G. Ziegler
- Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD
Ellen Sidransky, MD
- Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD
- Reprint requests: Ellen Sidransky, MD, Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, Building 35, Room 1A213, 35 Convent Dr, MSC 3708, Bethesda, MD 20892-3708.
Raphael Schiffmann, MD
- Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD.

Received 30 March 2007; received in revised form 23 October 2007; accepted 10 December 2007. published online 15 February 2008.

Objective

To investigate the spectrum and prevalence of cognitive deficits among children with type 3 (chronic neuronopathic) Gaucher disease (GD).

Study design

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.