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Oroesophageal motor disorders in Pierre Robin syndrome
1Department of Pediatrics, H pital Necker-Enfants Malades, Paris, France.
Insights
Children with Pierre Robin syndrome (PRS) often experience feeding and esophageal motility disorders. These oroesophageal issues, including manometric abnormalities, tend to improve over time but may indicate brainstem swallowing control dysregulation.
Area of Science:
- Pediatric Gastroenterology
- Neurology
- Genetics
Background:
- Pierre Robin syndrome (PRS) is characterized by a posterior U-shaped cleft palate, retrognathia, and glossoptosis, frequently leading to feeding difficulties.
- Feeding disorders are a primary clinical manifestation in PRS patients.
Purpose of the Study:
- To assess the oral and esophageal motor function in children diagnosed with PRS.
- To evaluate children with PRS who do not present with additional neurological symptoms.
Main Methods:
- Included 35 children hospitalized with isolated PRS (n=27) or PRS associated with Stickler syndrome (n=8).
- Conducted clinical evaluations of oroesophageal disorders and systematic esophageal manometry.
Main Results:
- All PRS patients exhibited feeding disorders, varying in type.
- Esophageal disorders were common and often unresponsive to standard gastroesophageal reflux treatments.
- 50% of children showed esophageal manometric abnormalities, including lower esophageal sphincter hypertonia and dyskinesia; these improved spontaneously after 12 months.
Conclusions:
- Clinical and manometric oroesophageal motility anomalies are consistently present in PRS.
- An unusual manometric pattern suggests potential dysregulation of brainstem swallowing control centers, possibly linked to neurovegetative instability.
Background:
Feeding disorders are one of the main clinical features in PRS, which combines a posterior U-shaped cleft palate, retrognathia, and glossoptosis. The aim of this study was to evaluate the oral and esophageal motor function of children with PRS without additional neurologic symptoms.
Methods:
All children hospitalized with Pierre Robin syndrome either isolated (n = 27) or associated with Stickler syndrome (n = 8) were included. Clinical evaluation of their oroesophageal disorders and systematic esophageal manometry were performed.
Results:
Feeding disorders were always present, but type of disorder varied from one child to another. Esophageal disorders were frequent and seemed to be resistant to classic gastroesophageal reflux treatment. Eighty-six percent of the children required nasogastric tube feeding for a mean duration of 8.6 months. Esophageal manometric abnormalities were noted in 50% of the children: lower esophageal sphincter hypertonia, failure of lower esophageal sphincter relaxation at deglutition, and esophageal dyskinesia. These clinical and manometric disorders showed a trend to spontaneous regression after 12 months.
Conclusion:
In the current Pierre Robin syndrome series, clinical and manometric anomalies of oroesophageal motility were always present. The authors identified an unusual manometric pattern that has also been described in situations of neurovegetative instability. It could reflect dysregulation of the control of the central pattern generators of swallowing in the brain stem.