From: Sanfilippo syndrome: consensus guidelines for clinical care
Area of assessment | Evaluations |
---|---|
Neurodevelopment/ neurological | High-resolution MRI: assessing for causes of headaches, signs of raised intracranial pressure and/or other intermittent or acute abnormalities that could be a cause of pain, distress, or behavioral changes |
ENT | ENT examination: assess for potential causes of unexplained pain, including infection |
Ophthalmology | Full ophthalmologic evaluation: assess for potential causes of unexplained pain, distress, agitation, or falls |
Dental | Dental exam: assess for potential causes of unexplained pain, distress, or agitation |
Nutrition and gastroenterology | Assess for gastroesophageal reflux as potential cause of behavioral distress and/or sleep disturbance Abdominal imaging: assess for potential causes of unexplained pain, distress, or agitation |
Orthopedic | Physical exam and X-rays: assess for potential causes of unexplained signs of discomfort or pain, particularly hip disease |
Pain | Standardized pain assessments Caregiver proxy assessments |
Laboratory investigations | Complete blood count, electrolytes, serum chemistries, and urine analysis |
Detailed physical exam and history | Exam and history to include areas described above, as well as skin and genitourinary evaluation (including assessment for urinary retention)* |