Esophageal motility dysfunction in children with Rett Syndrome, gastroesophageal reflux, and dysphagia

John E. Fortunato, Anil Darbari, Carmen Cuffari, Genila Bibat, Kenneth Koch, John Desbiens, Hong Brereton, Sakkubai Naidu

Research output: Contribution to journalArticle


Background: Rett syndrome is a neurodevelopmental disorder associated with gastroesophageal reflux disease (GERD) and dysphagia. Objective: Correlate esophageal motility disturbances with symptoms of GERD and dysphagia and with MECP2 gene mutations in children with Rett syndrome. Study Design: Thirty-two consecutive Rett patients with a mean (range) age of 6.2 (2.3-14) years with prior history of feeding problems underwent esophageal manometry. Lower esophageal sphincter (LES) pressure and percent relaxation, mean peak esophageal body contractions, and percent of swallows with abnormal peristalsis were quantified. Results: Patients with GERD (n = 13) or dysphagia (n = 11) had 37% and 34% of swallows followed by abnormal esophageal peristalsis, respectively, compared to 8% in patients without symptoms (P < 0.01). Patients with fundoplication (n = 4) had 45% of swallows followed by abnormal esophageal peristalsis versus 17% in those without fundoplication (P < 0.05). Fundoplication patients showed higher LES resting pressures (35 mmHg vs 23.5 mmHg, P < 0.01) compared with patients without previous anti-reflux surgery. There was no association between esophageal motor disturbances and MECP2 mutations. Conclusions: Decreased esophageal peristalsis is a common finding in Rett patients with symptoms of GERD and dysphagia with or without fundoplication. Prospective studies are needed to determine if esophageal manometry should be used to screen Rett patients for esophageal motility dysfunction before anti-reflux procedures.

Original languageEnglish (US)
Pages (from-to)84-94
Number of pages11
JournalJournal of Applied Research
Issue number2
StatePublished - Aug 15 2008



  • Dysphagia
  • Gastroesophageal reflux disease (GERD)
  • Manometry
  • Rett syndrome

ASJC Scopus subject areas

  • Pharmacology
  • Pharmacology (medical)

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