Diagnostic Strategies

Initial Evaluations

Patients should be monitored during clinic visits at least every 6 months. Initial evaluations should include assessment of the affected individual’s ability to walk and transfer and to communicate, including assessments of language, speech and hearing.

General evaluations, with special attention to pulmonary function, swallowing, bowel habit and mood (for occult depression) should be performed in juvenile and adult patients. Electroencephalograms may be indicated if the patient history suggests seizures. Sleep disturbances are common in NPC, and patient sleep hygiene should be ascertained at each clinic visit. Patients presenting with hepatosplenomegaly should have a complete blood count and tests of hepatic function to identify any risk of organ failure.

© 2007 Blackwell Publishing Limited. Reproduced by permission.

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