View clinical trials related to Pierre Robin Sequence.
Filter by:Congenital retrognathia, with or without Pierre Robin Sequence (PRS), is a rare anomaly which can be associated with chromosomal abnormalities. Respiratory and feeding consequences can be present at birth. After birth, the diagnosis of retrognathia is based on the clinical examination. Cephalometry can be used to complete the diagnosis. Several authors have proposed the use of objective quantitative ultrasound parameters for the antenatal screening of PRS. In our study, the investigators evaluated fetal cephalometry. The aim First, the investigators studied the inter- and intra-observer reproducibility of cephalometry. Second, the investigators established reference values for antenatal cephalometry in normal fetuses. Third, the investigators compared the diagnostic performance of cephalometry and the other angles described in the literature for the diagnosis of retrognathia.
Introduction Pierre Robin Sequence, PRS, incidence is about one hundred births per year in France. The main neonatal clinical manifestations are secondary to airway obstruction and food difficulties related to swallowing disorders. Despite recent progress, the pathogenesis of PRS is not fully understood. The hypothesis is that brainstem dysfunction, BSD, plays a central role in the pathogenesis of PRS. The purpose of the study is to achieve a complete evaluation of BSD to specify its role in the pathogenesis of PRS. The primary objective is to compare central apnea index (CAI) of infants with PRS with those of infants with isolated airway obstruction (AWO) and those of healthy infants in order to clarify the direct role of BSD. Material and Methods This prospective interventional study will be carried out in Lyon at the Hôpital Femme-Mère-Enfant and in Paris at the Hôpital Necker-Enfants Malades for 2 years. 3 groups of patients will be studied: PRS, 50 patients, AWO, 50 patients and healthy, 30 patients, included before 2 months of life. Infants will be followed for a maximum of 10 months. The evaluations will be carried out for 48 hours between birth and 2 months of life and then for 24 hours between 6 and 10 months of life for PRS and AWO group. Concerning the healthy group, the evaluation will be carried out during 48h during a single hospitalization before 2 months. Polysomnography, holter-ECG, 24h gas exchange, impedance-pH monitoring and mental region EEG will be performed. The central apnea index (mean number per hour), obstructive apnea index, non-nutritive swallowing index (NNS), gastroesophageal reflux and NNS-respiration coordination will be assessed for each stage of sleep and compared between the three groups of patients.