Table 4b.

Type 2 and Type 3 Gaucher Disease: Recommended Evaluations Following Initial Diagnosis in Neonates and Children

System/ConcernEvaluationComment
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team eval
  • To incl eval of aspiration risk & nutritional status
  • Consider eval for gastrostomy tube placement in persons w/dysphagia &/or aspiration risk.
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Neurologic
  • Assess for seizures.
  • Consider EEG if seizures are a concern.
  • Assess for bulbar involvement & abnormal ocular movements.
Brain stem auditory evoked potential testing; abnormal findings confirm presence of neuronopathic form of GD.
Musculoskeletal Radiograph & MRI of symptomatic areas as indicated to assess for bone disease progressionIn persons w/type 3 GD only
Family support
& resources 		By clinicians, wider care team, & family support organizationsAssessment of family & social structure to determine need for:

GD = Gaucher disease

From: Gaucher Disease

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