Brainstem Dysfunction Involvement in the Pathogenesis of Pierre Robin Sequence
Condition: Pierre Robin Sequence; Brainstem Dysfunction
MeSH terms: Pierre Robin Syndrome
Study type: Interventional

Summary: 
      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.
    


Intervention name(s): Recording of data; Recording of data
Intervention type(s): Other; Other
Intervention description(s): Recording during one hospitalization of 48 hours between birth and 2 months of life and one hospitalization of 24 hours between 6 and 10 months of life
General data: age, term of birth, birth weight, gender, diseases, weight and size at recording, cranial perimeter, food, drugs : first and second visit
Respiratory rate, respiratory signs, stridor : first and second visit
24h holter-ECG : first and second visit
24h impedance pH-metry : first visit
Nocturne polysomnography : 50% prone position, 50% supine : sleep analyze, obstructive apnea hypopnea index (OAHI), central apnea index (CAI), periodical breathing, micro arousals index, non-nutritive swallowing analyze,(mental region electromyogram) : first and second visit
24 h gaz exchanges : mean, maximal PtcCO2 and % of time spent above 50 mmHg , SpO2 under 90%, 85% et 80% and desaturations index : first and second visit
succimetry procedure : at first visit only between birth and 2 months; Recording during one hospitalization of 48 hours between birth and 2 months of life
General data: age, term of birth, birth weight, gender, diseases, weight and size at recording, cranial perimeter, food, drugs
Respiratory rate, respiratory signs, stridor
24h holter-ECG
24h impedance pH-metry
Nocturne polysomnography : 100% supine position : sleep analyze, obstructive apnea hypopnea index (OAHI), central apnea index (CAI), periodical breathing, micro arousals index, non-nutritive swallowing analyze,(mental region electromyogram)
24 h gas exchanges : mean, maximal PtcCO2 and % of time spent above 50 mmHg , SpO2 under 90%, 85% et 80% and desaturations index
Succimetry procedure : at first visit only between birth and 2 months
Allocation: Non-Randomized
Intervention model: Parallel Assignment
Masking: None (Open Label)
Primary purpose: Other
Keywords: Pierre Robin sequence; Brainstem; pathogenesis; swallowing; apnea