Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome

Background: Feeding impairment frequently complicates the course of childre n with neurologic disorders and places them at risk for malnutrition and gr owth failure. Although feeding abnormalities have been reported in female p atients with Rett syndrome, the mechanisms that account for these findings have not been elucidated fully. This study was designed to characterize the clinical features of oropharyngeal and gastroesophageal dysfunction and th eir impact on the dietary intake and nutritional status of female subjects with Rett syndrome. Methods: The clinical features of oropharyngeal and gastroesophageal dysfun ction in 13 female patients with Rett syndrome, (age range, 3.7 to 25.7 yea rs) were characterized by an oral feeding assessment, swallowing function s tudy, and upper gastrointestinal series. Growth, nutritional status, and bo dy composition were determined by stadiometry and anthropometry. Dietary in takes were determined from 3-day food records. Results: Oropharyngeal dysfu nction and gastroesophageal dysmotility were present in 100% and 69%, respe ctively, of the study patients with Rett syndrome. The scope and severity o f these abnormalities were apparent only by videofluoroscopy. Abnormalities of oropharyngeal function included poor tongue mobility, reduced oropharyn geal clearance, and laryngeal penetration of liquids and solid food during swallowing. Esophageal dysmotility included absent primary or secondary wav es, delayed emptying, atony, the presence of tertiary waves, spasm, and gas troesophageal reflux. Gastric dysmotility included diminished peristalsis o r atony. Lower dietary energy intakes were associated with persistence of r esidue in the valleculae and pyriform sinuses and less body fat. Conclusion: The prevalence of oropharyngeal dysfunction and gastroesophagea l dysmotility warrants early diagnostic evaluation and intervention strateg ies to improve the nutritional status of girls and women with RS.