Gastrointestinal Issues in Rett Syndrome: Key Findings

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FD Ihekweazu, KJ Motil. J Pediatr Gastroenterol Nutr. 2025;80:46–56. Gastrointestinal manifestations of Rett syndrome: An updated analysis using the Gastrointestinal Health Questionnaire

Methods: Parents of 118 females with Rett syndrome (RTT) and 27 unaffected females completed the GHQ.

Key findings:

  • GI symptoms were common in females with RTT, including constipation (81%), gas and bloating (70%), issues with eating, chewing and swallowing (73%), and irritability because of stomach or intestinal problems (53%).
  • Females with RTT commonly used proton pump inhibitors (52%) and laxatives (64%). 
All with p values of <0.001 with the exception of has >3 BM/day which had p value of 0.004

My take: “GI problems are common in RTT and pose a significant medical burden to caregivers.” As such, it is a good idea to screen for treatable disorders including swallow dysfunction, constipation, and reflux.

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