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- W2033592133 abstract "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. 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). 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%). 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." @default.
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- W2033592133 date "2015-03-22" @default.
- W2033592133 modified "2023-10-10" @default.
- W2033592133 title "Abnormal auditory pathways in PHOX2B mutation positive congenital central hypoventilation syndrome" @default.
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- W2033592133 doi "https://doi.org/10.1186/s12883-015-0299-z" @default.
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