Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Free Sialic Acid Storage Disorders

System/ConcernEvaluationComment
Neurologic Neurologic eval
  • To incl brain MRI
  • Consider EEG if seizures are a concern.
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills;
  • Mobility, activities of daily living, & need for adaptive devices;
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills).
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team eval
  • To incl eval of aspiration risk & nutritional status
  • Consider eval for gastrostomy tube placement in those w/dysphagia &/or aspiration risk.
Miscellaneous/
Other 		Biochemical genetics or neurogenetics consultationTo incl genetic counseling
Family support & resourcesAssess need for:

OT = occupational therapy; PT = physical therapy

From: Free Sialic Acid Storage Disorders

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