Stage M2 Necker : Pressions masque de ventilation et déformation visage enfants

DESCRIPTION OF THE PROJECT:
In children, craniofacial malformations such as syndromic craniosynostoses due to FGFR mutations are often associated with a syndrome of obstructive sleep apnea (OSA). This is because these patients often present a retrusion of the face that decreases the aerial volume of the superior respiratory tract. Since FGFR anomalies are evolutive diseases, the maxillofacial retrusion usually gets worse with age. At the approximate age of 2 years, and after a posterior expansion of the skull vault that releases brain growth, these patients undergo a frontofacial advancement to correct the typical retromaxilly. While awaiting their surgery, young patients often need a non-invasive ventilation (NIV) assistance to prevent from sleep apnea / hypopnea events that may lead to developmental and neurological impairments. The objective of the present project is to evaluate the phenotypic impact of wearing NIV device (nasal mask with pressurized air supply), and to assess whether a prolonged use of this device at young ages may lead to exacerbation of the maxillary retrusion. Then, alternative protocols should be proposed and tested to attenuate the phenotypic consequences of wearing such masks.

MISSIONS:
A direct correlation between duration, age and worsening of the facial phenotype was demonstrated in the context of this project. In practice, the student will now have to carry out pressure measurement experiments to quantify the forces applied on the face by the mask. To do so, the student will use an innovative experimental setup developed in the laboratory, that enables to record forces at different locations of the face on a 3D-printed realistic head model, which facial phenotype can be switched to test patient-specific 3D data. Therefore, the student will search for a direct correlation between patterns of pressure distribution and the degree of aggravation observed in the previous study. This will enable him / her to conclude on the causal relationship between the forces applied, the duration of the NIV treatment, and the risk of undesirable phenotypic evolution.

EXPECTED OUTCOMES:
The outcomes of the present project are two-fold. The results of the experiments will help us concluding on the causal effect of positive pressure air supply and the stress associated with mask wearing in the aggravation of the facial phenotype in FGFR patients. Additionally, on the longer term patient-specific masks may be designed and mechanically tested to help lowering the peak stress on the face. The present project will have a direct impact on the management of these patients, by proposing a novel protocol to reduce phenotypic impairments in young patients in need for respiratory assistance. Upon satisfying completion of this work, we will offer the student the opportunity to write and publish a peer-reviewed scientific article.

IN PRACTICE:
Internship duration is 5 to 6 months, and may start from January 2025 to beginning of March 2025. Please send a full CV and a proper cover letter in pdf, at latest on the 31st of January.