Fiberoptic Endoscopic Evaluation of Swallowing Findings in Children With Rett Syndrome

Feeding abnormalities, swallowing dysfunction, and gastrointestinal issues cause poor weight gain, oral motor dysfunction, and air swallowing in children with Rett syndrome (RTT). Pneumonia is the leading cause of death. Our study describes fiberoptic endoscopic swallowing findings in 11 female RTT children. Each patient was evaluated using the 8-point Penetration/Aspiration Scale (PAS). The average age was 7 years. All patients had tongue dyskinesis and prolonged oral stage. Eight girls exhibited liquid entering the airway without coughing, whereas 6 did well with pureed meal. Three girls had pneumonia. Age was not correlated with pneumonia episodes (P = .18). Pureed material was related with pneumonia (P = .006), whereas liquids were not. Pureed PAS was positively correlated with Liquid PAS (P = .008) and age (P = .004). All aspiration/penetration incidents occurred before the pharyngeal phase. No patient under 7 years experienced pneumonia episodes. Silent aspiration can occur early in infancy, although pneumonia episodes can occur later.

Automated summary

Feeding difficulties, swallowing dysfunction, and gastrointestinal problems result in poor weight gain, oral motor dysfunction, and air swallowing in children with Rett syndrome. Pneumonia is the main cause of death. In our study, we examined the fiberoptic endoscopic swallowing findings in 11 female RTT children. All patients had tongue dyskinesis and prolonged oral stage. Liquid penetration without coughing was observed in 8 girls, while 6 girls tolerated pureed meals well. The incidence of pneumonia was not correlated with age. Pureed food was associated with pneumonia, while liquids were not. The Penetration/Aspiration Scale was positively correlated with age and liquid penetration.