Table 1 Data of the whole group of 34 CCHS patients, including genetic and clinical data (panel A) and intellectual indices (panel B)

Socio-demographic data

34 patients

Age, mean ± SD, range, year:month

7.8 ± 3.8, 4:0–16:6

Younger than 6 years versus older than 6 years, n

16 versus 18

Male versus female, n

15 versus 19

Genetic data

Patients with PARMs, n, genotype

27 [n = 8 (20/25), n = 11 (20/26), n = 7 (20/27) and n = 1 (20/33)]

Patients with NPARMs, n

7

Clinical data

Neonatal versus late-onset CCHS, n

32 versus 2 (diagnosed at 18 months and 9 years)

Isolated CCHS versus CCHS and HD, n

27 versus 7

Night ventilation versus No ventilation, n

33 versus 1

Mask versus Tracheostomy ventilation, n

16 (14 never tracheotomised) versus 17

Phrenic nerve or cardiac pacemaker, n

0

Neonatal convulsions, n

3

Special education program, n

4

Full-scale IQ

34

73–91

Verbal comprehension index

33

79–98

Visual-spatial index

34

79–96

Fluid reasoning index

33

82–99

Working memory index

31

75–87

Processing speed index

31

70–89