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

From: Neurocognition in Congenital Central Hypoventilation Syndrome: influence of genotype and ventilation method

Panel A
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
 Panel B n of patients tested Mean ± SD 95% confidence interval
Full-scale IQ 34 82 ± 20 73–91
Verbal comprehension index 33 88 ± 21 79–98
Visual-spatial index 34 88 ± 19 79–96
Fluid reasoning index 33 90 ± 19 82–99
Working memory index 31 81 ± 13 75–87
Processing speed index 31 77 ± 19 70–89
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172