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Table 1 Methods used in the diagnosis of CCHS (n = 123)

From: Neurodevelopmental outcome and respiratory management of congenital central hypoventilation syndrome: a retrospective study

  Number Percent
Clinical manifestations 102 82.9
SpO2 monitoring 82 66.7
PHOX2B gene mutation test 74 60.2
Blood gas analysis 62 50.4
Ventilatory response to CO2 24 19.5
End-tidal CO2 16 13.0
Tidal volume monitoring 9 7.3
Percutaneous CO2 monitoring 2 1.6
Clinical manifestations + SpO2 monitoring 71 57.7
Clinical manifestations + Blood gas analysis 59 48.0
Clinical manifestations + Ventilatory response to CO2 20 16.2