Clinical assessment

The first step in diagnosis involves a thorough medical evaluation. This usually includes collecting a detailed summary of the child's development and performing a physical examination. In most cases, this will be done by a pediatrician or family care provider. Since neurological functions are so important, the clinical assessment may also include a referral to a pediatric neurologist.

There are three important things to address in the medical evaluation:

1. Evidence that suggests developmental delay
2. Any occurrence of self-biting or other types of self-injurious behavior
3. Clues that suggest too much uric acid is being made