What is the recommended management for Gastroesophageal Reflux Disease (GERD) in patients with CHARGE (Coloboma, Heart defect, Atresia choanae, Restricted growth and development, Genital abnormality, Ear abnormality) syndrome?

Management of GERD in CHARGE Syndrome

Patients with CHARGE syndrome should be treated with proton pump inhibitors (PPIs) as first-line therapy for GERD, with careful consideration for feeding difficulties and potential need for assisted feeding interventions. 1

Understanding GERD in CHARGE Syndrome

GERD is highly prevalent in CHARGE syndrome, affecting over 90% of individuals 2, 3. The underlying causes include:

• Cranial nerve dysfunction affecting swallowing and gut motility
• Craniofacial abnormalities
• Oral-motor function abnormalities
• Associated conditions like weak sucking/chewing and aspiration

Diagnostic Approach

For patients with CHARGE syndrome presenting with suspected GERD:

1. Evaluate for warning signs - particularly weight loss, which is a crucial warning sign that should alter clinical management 4
2. Consider specialized testing as recommended by gastroenterology:
   • Swallowing studies
   • pH studies
   • Upper gastrointestinal series
   • Endoscopy 4

Treatment Algorithm

Step 1: Initial Management

• Begin with PPI therapy - Start with a single daily dose taken 30-60 minutes before a meal
  • Options include omeprazole 20mg daily or lansoprazole 15-30mg daily 1
  • Initial trial for 2 weeks to assess response 4

Step 2: Based on Response

• If symptoms improve:
  • Continue PPI for 8-12 weeks
  • Then attempt to taper to lowest effective dose 1
• If no improvement:
  • Discontinue PPI
  • Consider consultation with pediatric gastroenterologist 4

Step 3: Concurrent Interventions

• Implement lifestyle modifications:
  • Elevate head of bed 6-8 inches
  • Avoid meals 2-3 hours before lying down
  • Smaller, more frequent meals 1

Step 4: For Persistent Symptoms

• Consider feeding therapy for feeding difficulties 4
• Evaluate for assisted feeding (nasogastric or gastrostomy tube) for failure to thrive, which is necessary in 40-50% of cases 4
• For breakthrough symptoms:
  • Consider H2-receptor antagonists at bedtime for nocturnal symptoms
  • Consider baclofen (5-20mg TID) for regurgitation-predominant symptoms 1

Special Considerations for CHARGE Syndrome

• Monitor for aspiration risk - CHARGE patients have higher risk due to cranial nerve dysfunction 3
• Coordinate with multidisciplinary team - Involve feeding specialists, gastroenterologists, and otolaryngologists 5
• Regular follow-up to monitor growth and nutrition 4
• Continue feeding therapy if persistent feeding difficulties are present 4

Common Pitfalls to Avoid

1. Overtreatment of "happy spitters" - Distinguish between physiologic GER (effortless, painless, not affecting growth) and pathologic GERD requiring intervention 4

2. Underrecognition of feeding difficulties - In CHARGE syndrome, feeding problems often coexist with GERD and require specific interventions 2

3. Failure to recognize warning signs - Weight loss or failure to thrive should prompt more aggressive management and consideration of assisted feeding 4

4. Inadequate follow-up - Regular monitoring is essential to ensure treatment efficacy and adjust interventions as needed 4

5. Missing associated conditions - GERD in CHARGE syndrome often occurs alongside other GI issues that may require additional management 3