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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