Version May 2024
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| Neurologic examination, preferably by a neurologist with experience in neuronopathic GD. |
| Eye movement examination, preferably by a neuroophthalmologist or a neurologist. At the minimum, elicitation of repeated maximal amplitude horizontal saccades should be performed at the bedside and compared with a healthy subject. It is desirable to add an objective measurement (eg, DC-coupled electrooculography) as clinical examination alone often misses slowed saccades or gaze palsy.[1] |
| Additional neuroophthalmological investigation, including direct ophthalmoscopy. |
| Measurement of peripheral hearing (electroacoustical emission in small children, pure tone audiometry in older patients). |
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| Preferably by MRI or, if MRI is unavailable, by CT. In very sick children, the risks of anesthesia should be considered and the scan deferred until the child is clinically stable.* |
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| EEG. |
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| Age-appropriate testing should be assessed by an appropriately qualified psychologist. It may be advisable to defer testing, especially in young children, until the patient's overall health is sufficiently improved to permit meaningful measurement. Widely available protocols, such as the Wechsler Intelligence Scale for Children - Fourth UK Edition (WISC-IVUK), should be used unless not valid for language or cultural reasons. Specific testing (eg, of speech and language, memory, visuospatial skills, etc) may be required. Such testing should be tailored to the needs of the individual child. |
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| Swallow study in infants with suspected GD2. |
| Add an objective measurement of eye movement (eg, DC-coupled electrooculography) as clinical examination alone often misses slowed saccades or gaze palsy. |
| Measurement of peripheral hearing (electroacoustic emission in small children, pure tone audiometry in older patients). |
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