Breaking news for Central Congenital Hypoventilation Syndrome

In collaboration with Dr. Muriel Thoby-Brisson (Université de Bordeaux, Institut de Neurosciences Cognitives et Intégratives d’Aquitaine, CNRS), and thanks to Fondation Air Liquide, Association Française du syndrome d’Ondine and start-up company ATMOSR, team NeoPhen published in the prestigious “Blue Journal” (American Journal of Respiratory and Critical Care Medicine) a study^[1] showing that, in newborn mice, Phox2b27Ala/+ mutation predisposed pups not only to hypoventilation and central apneas, but also to obstructive and mixed apneas, likely because of hypoglossal dysgenesis. These results thus demand attention toward obstructive events in infants with CCHS. A study highlighted in Inserm magazine n°56 March 2023.

1: Madani A, Pitollat G, Sizun E, Cardoit L, Ringot M, Bourgeois T, Ramanantsoa N, Delclaux C, Dauger S, d’Ortho MP, Thoby-Brisson M, Gallego J, Matrot B. Obstructive Apneas in a Mouse Model of Congenital Central Hypoventilation Syndrome. Am J Respir Crit Care Med. 2021 Nov 15;204(10):1200-1210. doi: 10.1164/rccm.202104-0887OC. PMID: 34478357.

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Putative pathophysiology of obstructive apneas in Ondine syndrome

Monosynaptic or polysynaptic projections of Phox2b neurons from the NTS or RTN to the 12N may be required for upper airway permeabilitý during sleep. 7N = facial nucleus; 12N = hypoglossal nucleus; AP = area postrema; NTS = nucleus of the tractus solitarius: RTN = retro-trapezoid nucleus. Adapted from Amorim et al. AJRCCM 2021.