1. Clinical examination |
Neurologic examination: Every 3 months during year 1, every 6 months thereafter. Neurologic examination to include scoring as defined in the Severity Scoring Tool for NGD[1] to monitor changes. In adolescent and adult patients who are stable, neurologic examination once a year may be sufficient. |
If eye movements were considered to be normal at the time of initial assessment or if the result was equivocal (often the case with very young or sick children), such testing should be repeated. |
Additional neuroophthalmological investigation: Only if clinically indicated (eg, development of sixth-nerve palsy). |
Peripheral hearing (audiometry or electroacoustical emissions depending on age, as stated above): Evaluating trends every 2 or 3 years. |
2. Brain imaging |
Only if clinically indicated. The risk of anesthesia should be considered. An exception to this may be made in patients who have the D409H allele. Such patients may be at risk of hydrocephalus[2,3] and may therefore need to be scanned on a regular basis. |
3. Neurophysiology |
EEG: Should be performed if clinically indicated (eg, presence of seizures, baseline study looking for background slowing in suspected GD3). If myoclonus is suspected, telemetry may be needed. |
Nerve conduction velocity: Only if clinically indicated with reported symptoms of tingling, numbness, or pins and needles. |
4. Neuropsychometry |
Annual assessments are probably not necessary as they are time consuming. We suggest the following: Assessment at school entry, then at transition from primary to secondary school, then when transitioning to college/adult education. Age-appropriate scales should be used. |
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