Proceedings of the fourth international conference on central hypoventilation.
Central hypoventilation syndromes (CHS) are rare diseases of central autonomic respiratory control associated with autonomous nervous dysfunction. Severe central hypoventilation is the hallmark and the most life-threatening feature. CHS is a group of not-fully defined disorders. Congenital CHS (CCHS) (ORPHA661) is clinically and genetically well-characterized, with the disease-causing gene identified in 2003. CCHS presents at birth in most cases, and associated with Hirschsprung's disease (ORPHA99803) and neural crest tumours in 20% and 5% of cases, respectively. The incidence of CCHS is estimated to be 1 of 200,000 live births in France, yet remains unknown for the rest of the world. In contrast, late-onset CHS includes a group of not yet fully delineated diseases. Overlap with CCHS is likely, as a subset of patients harbours PHOX2B mutations. Another subset of patients present with associated hypothalamic dysfunction. The number of these patients is unknown (less than 60 cases reported worldwide). Treatment of CHS is palliative using advanced techniques of ventilation support during lifetime. Research is ongoing to better understand physiopathological mechanisms and identify potential treatment pathways.The Fourth International Conference on Central Hypoventilation was organised in Warsaw, Poland, April 13-15, 2012, under the patronage of the European Agency for Health and Consumers and Public Health European Agency of European Community. The conference provided a state-of-the-art update of knowledge on all the genetic, molecular, cellular, and clinical aspects of these rare diseases.
French Centre of Reference for Central Hypoventilation, Robert Debré University Hospital, EA 7334 REMES Paris-Diderot University, 48 boulevard Serurier, 75019, Paris, France. ha.trang@rdb.aphp.fr.
Ha
H
Trang
IBENS, CNRS 8197, INSERM 1024, École normale supérieure, Paris, France. jfbrunet@biologie.ens.fr.
Jean-François
JF
Brunet
Research Group Developmental Neurobiology, Department of Neurochemistry, Max Planck Institute for Brain Research, Frankfurt am Main, Germany. hermann.rohrer@brain.mpg.de.
Hermann
H
Rohrer
Inserm U676, Robert Debré University Hospital, Paris, France. jorge.gallego@inserm.fr.
Jorge
J
Gallego
French Centre of Reference for Central Hypoventilation, Necker-Enfants Malades University Hospital, Paris, France. jeanne.amiel@inserm.fr.
Jeanne
J
Amiel
Istituto Giannina Gaslini, Genova, Italy. tiziana.bachetti@tin.it.
Tiziana
T
Bachetti
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Missouri, USA. fischbeck@ninds.nih.gov.
Kenneth H
KH
Fischbeck
French Centre of Reference for Central Hypoventilation, La Pitié Salpêtrière University Hospital, Pierre et Maris Curie University, Paris, France. thomas.similowski@psl.aphp.fr.
Thomas
T
Similowski
French Centre of Reference for Central Hypoventilation, La Pitié Salpêtrière University Hospital, Pierre et Maris Curie University, Paris, France. christian.straus@psl.aphp.fr.
Christian
C
Straus
Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genova, Italy. isa.c@unige.it.
Isabella
I
Ceccherini
Autonomic Medicine in Paediatrics (CAMP), Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA. DWeese-Mayer@luriechildrens.org.
Debra E
DE
Weese-Mayer
Klinikum Dritter Orden, Munich, Germany. matthias.frerick@dritter-orden.de.
Matthias
M
Frerick
Children's Memorial Health Institute in Warsaw, Warsaw, Poland. kbieganowska@wp.pl.
Katarzyna
K
Bieganowska
Parent and UK CCHS Support Network, Oxford, UK. cchssupp@hotmail.com.
Linda
L
Middleton
Ospedale Sacra Famiglia, Erba, Italy. morandi.francesco@teletu.it.
Francesco
F
Morandi
Via Gerolamo Gaslini, Genova, Italy. giancarloottonello@gmail.com.
Giancarlo
G
Ottonello
D003226:Congresses as Topic / Q000639:trends; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000175:diagnosis / Q000453:epidemiology / Q000628:therapy; D059725:Interactive Ventilatory Support / Q000379:methods / Q000639:trends; D038622:Internationality; D011044:Poland; D020182:Sleep Apnea, Central / Q000175:diagnosis* / Q000453:epidemiology* / Q000628:therapy