Table 6.

Recommended Surveillance at Each Visit for Individuals with GAN-Related Neurodegeneration

System/ConcernEvaluation
Development /
Cognitive decline 		Monitor developmental progress & educational needs. 1
Neurologic
  • Monitor those w/seizures as clinically indicated.
  • Assess progression of peripheral neuropathy, ataxia, spasticity, & cranial nerve dysfunction.
Motor disability & ADL Physical medicine, OT/PT assessment of mobility, self-help skills
Wheelchair-bound
or bedridden persons 		Examine for bedsores & decubitus ulcers.
Dysarthria /
Language delay 		Speech-language pathology assessment
Feeding
  • Measurement of growth parameters
  • Eval of nutritional status & safety of oral intake
Optic atrophy
  • Eye exam (visual acuity, color vision testing, slit lamp exam for cataracts, fundoscopy, visual fields)
  • Evaluate effectiveness of low-vision aids.

OT = occupational therapist; PT = physical therapist

1.

Frequent reassessment is needed because of the progressive nature of the disorder. Special education often becomes necessary between ages five and 12 years.

From: GAN-Related Neurodegeneration

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