title: Abnormal auditory pathways in PHOX2B mutation positive congenital central hypoventilation syndrome.
abstract: BACKGROUND
  Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by severe central hypoventilation due to abnormal autonomic control of breathing. The PHOX2B gene, mutations of which define the disease, is expressed in a group of nuclei located in brainstem areas. Pathways controlling breathing and auditory pathways traverse very similar anatomic structures. In the present study, we measure brainstem auditory evoked potentials (BAEP) to assess auditory pathways in CCHS and investigate to which extent brainstem auditory pathways are also affected.
  
  
  METHODS
  BAEPs were measured in 15 patients with PHOX2B mutations positive CCHS (8 boys and 7 girls. mean age 6.3 yrs ± 5) as part of their regular follow-up in the Centre of reference for central hypoventilation (Robert Debré University Hospital. Paris. France).
  
  
  RESULTS
  BAEP responses were found normal in nine patients (60% of the study group) and abnormal in the other six (40%). Abnormal BAEPs which resulted from brainstem dysfunction were found in three patients (20%).
  
  
  CONCLUSIONS
  Dysfunction of brainstem auditory pathways can be observed in CCHS. However, auditory evoked responses can be normal in the disease, therefore suggesting much more complex yet-to-be determined interactions between pathways and functions of central control of breathing and of control of hearing.
authors.affiliation: French Center 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.
authors.forename: Ha
authors.initials: H
authors.lastname: Trang
authors.affiliation: Department of Physiology, Robert Debré University Hospital, Paris, France. tmasrizada@noos.fr.
authors.forename: Tarif
authors.initials: T
authors.lastname: Masri Zada
authors.affiliation: French Center of Reference for Central Hypoventilation, Robert Debré University Hospital, Paris, France. fazia.heraut@gmail.com.
authors.forename: Fawzia
authors.initials: F
authors.lastname: Heraut
mesh_terms: D001306:Auditory Pathways / Q000503:physiopathology*; D001341:Autonomic Nervous System; D002648:Child; D002675:Child, Preschool; D005072:Evoked Potentials, Auditory / Q000502:physiology; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology*; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000235:genetics; D007223:Infant; D008297:Male; D009154:Mutation; D020182:Sleep Apnea, Central / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors