Brainstem Dysfunction Involvement in the Pathogenesis of Pierre Robin Sequence
Trial Snapshot
- Phase
- Not Applicable
- Status
- Completed
- Sponsor
- Hospices Civils de Lyon
- Enrollment
- 113
- Locations
- 2
- Primary Endpoint
- Central apnea index (CAI) (mean number per hour)
Study Overview
Brief 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.
Study Design
- Study Type
- Interventional
- Allocation
- Non Randomized
- Intervention Model
- Parallel
- Primary Purpose
- Other
- Masking
- None
Eligibility Criteria
- Ages
- 1 Day to 2 Months (Child)
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •for the group 1
- •infants with PRS
- •Inclusion Criteria for the group 2 - infant with isolated airway obstruction
- •Inclusion Criteria for the group 3
- •healthy infant : siblings of sudden unexpected death of the infant or with any known pathology
- •Inclusion Criteria for the 3 groups
- •During one hospitalization or program for one hospitalization
- •Parental consent
- •Social safety affiliation
Exclusion Criteria
- •Birth before 37 SA
- •Neonatal complication
- •Group 2 only: AWO with neurological disease including brainstem dysfunction
- •Group 3 only : AWO, ENT disease or syndromic disease, neurological disease including brainstem dysfunction, Intra uterine growth retardation
Arms & Interventions
Pierre Robin sequence
Infants with PRS : retrognathism, glossoptosis, cleft palate
Group 1a : isolated PRS Group 1b : PRS with bone disease or collagen disease (Stickler) Group 1c : syndromic PRS or associated PRS without bone disease or collagen disease
Intervention: Recording of data (Other)
Superior airway obstruction, AWO
Infants with AWO : laryngomalacia, tracheal stenosis, laryngeal stenosis, others etiology
Intervention: Recording of data (Other)
Healthy infants
Healthy infants : siblings of sudden unexpected death of the infant
Intervention: Recording of data (Other)
Outcomes
Primary Outcomes
Central apnea index (CAI) (mean number per hour)
Time Frame: 2 months of life during one nocturne polysomnography
To compare central apnea index (CAI) (mean number per hour), according to the ASSM guidelines 2007, recording by one nocturne polysomnography, between 3 groups of infants by sleep step, between birth and 2 months of life, in order to clarify the direct role of BSD. According to the ASSM guidelines 2007, the central apnea index is measured : mean number of central apnea per hour.
Secondary Outcomes
- Non-nutritive swallowing index (NNS) and apnea secondary to non-nutritive swallowing(up to 10 months of life)
- Micro arousals index (mean number per hour)(up to 10 months of life)
- Obstructive apnea hypopnea index (OAHI)(mean number per hour)(2 months)
- Positive and negative pressures, their temporal organizations evaluated using succimetry procedure between the 3 groups of patients at 0 and 2 months of life(up to 2 months of life)
- Comparison of OAHI(mean number per hour) and CAI(between 6 and 10 months of life)
- Micro arousals index (mean number per hour)(up to 2 months of life)
- Non-nutritive swallowing index (NNS) and apnea secondary to non-nutritive swallowing(up to 2 months of life)