Table 1.

Clinical characteristics of patients

	N	%
Total	3479	100
Gender
Male	1971	56.7
Female	1508	43.3
Age
< 1 year	370	10.6
1–2 years	773	22.2
3–5 years	870	25.0
6–11 years	884	25.4
12–17 years	514	14.8
> 18 years	68	2.0
Devices
Yes	783	22.5
No	2696	77.5
Type of devices
Central venous catheters	147	14.1
Gastrostomy tubes (PEG or PEJ)	562	53.7
Home non invasive ventilation	75	7.2
Home oxigen therapy	49	4.7
Cough assist equipment	39	3.7
Tracheostomy	174	16.6
Etiological diagnosis
Defined diagnosis	2506	72.0
Syndromic disorders	1358	54.2
Metabolic diseases	304	12.1
Neuromuscular diseases	139	5.5
Congenital skeletal condition	49	2.0
True isolated microcephaly	25	1.0
Isolated CNS malformations	194	7.7
Epilepsy under AED	437	17.4
Presumptive diagnosis	973	28.0
Syndromic disorders	533	54.8
Metabolic diseases	91	9.4
Neuromuscular diseases	54	5.5
Congenital skeletal condition	7	0.7
Medical devices users	288	29.6

N Number, CSN Central nervous system, AED Anti-epileptic drug, PEG Percutaneous endoscopic gastrostomy, PEJ Percutaneous endoscopic jejunostomy