title: Evoked potentials and neurocognitive functions in pediatric Egyptian Gaucher patients on enzyme replacement therapy: a single center experience.
abstract: BACKGROUND
  Effectiveness of enzyme replacement therapy (ERT) in reverting hematologic, skeletal, and visceral symptoms in Gaucher disease (GD) has been demonstrated, although, its efficacy in neurologic involvement is still debated.
  
  
  OBJECTIVE
  We evaluated the extent of neuro-cognitive dysfunction using brain stem evoked potential in GD3 patients, age-matched controls, and GD1 patients without neurological manifestations served as disease control group.
  
  
  METHODS
  Study included 56 GD (36 had type 1, 20 had type 3) under ERT. Investigations included complete blood count, beta glucosidase assay in peripheral leucocytes, plasma chitotriosidase and bone marrow examination, electroencephalography, brain stem auditory (AEP), somatosensory (SSEP) and visual evoked potentials (VEP) as well as IQ testing.
  
  
  RESULTS
  Both types of GD showed significantly higher mean latency at 75 on left eye, lower PP amplitude ratio, higher latency at 75, 100, 145, lower amplitude, and higher Lat Diff LT-RT ms and Lt-Rt % compared to controls (p < 0.05) with no difference between both groups in other values of VEP. Both groups showed significantly prolonged latency of N 13-19 compared to controls (p < 0.05) with positive correlation between age and duration of therapy with parameters of SSEP (p < 0.01). Both groups of GD had significantly prolonged latency of the mean waves of AEP compared to controls (p < 0.05) with no significant difference between both groups. There was a negative correlation between age and waves II, III, I-III, I-V and threshold values of AEP. IQ level was positively correlated with AEP values. Severity scoring tool was positively correlated with AEP and SSEP values.
  
  
  CONCLUSIONS
  Electrophysiological abnormalities were present in both types of GD and have been correlated to cognitive function and disease characteristics.
authors.affiliation: Pediatrics Department, Faculty of Medicine, Ain Shams University Children's Hospital, Abbassya, Cairo, Egypt, aagtfz@gmail.com.
authors.forename: Azza Abdel Gawad
authors.initials: AA
authors.lastname: Tantawy
authors.forename: Eman Mounir
authors.initials: EM
authors.lastname: Sherif
authors.forename: Amira Abdel Moneam
authors.initials: AA
authors.lastname: Adly
authors.forename: Sahar
authors.initials: S
authors.lastname: Hassanine
authors.forename: Amina Hafez
authors.initials: AH
authors.lastname: Awad
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003071:Cognition / Q000187:drug effects* / Q000502:physiology; D003430:Cross-Sectional Studies; D003943:Diagnostic Techniques, Neurological; D004534:Egypt; D056947:Enzyme Replacement Therapy; D005073:Evoked Potentials, Somatosensory / Q000187:drug effects*; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis / Q000188:drug therapy* / Q000503:physiopathology*; D005962:Glucosylceramidase / Q000494:pharmacology / Q000627:therapeutic use*; D006801:Humans; D008297:Male
chemical_list: D005962:Glucosylceramidase