The Canadian Pediatric Society provides recommendations relating to post diagnostic management and medical work up.
Typically, a post diagnosis medical work up could include:
- History related to possible etiology
- History related to possible medical comorbidities
- Physical examination including: head circumference, growth parameters, distinctive features, neurocutaneous lesions and focal neurologic signs
- Genetic (e.g., Fragile X and Microarray analysis) and metabolic testing
- MRI if indicated
- Sleep Deprived EEG (if seizures are suspected)
- Other bloodwork relating to nutrition, lead, thyroid function, if relevant
- Audiology and vision assessments
- Dental assessment
Click here for additional details regarding the post diagnostic medical work-Up.
