Number of patients
|
46
|
16
|
29
|
Age at diagnosis (months)
|
Median
|
62
|
54
|
71
|
Range
|
20 – 522
|
34 – 79
|
20 – 522
|
Delay general practitioner – diagnosis (months)
|
Median
|
39
|
39
|
42
|
Range
|
2 – 438
|
6 – 76
|
3 – 438
|
Delay medical specialist – diagnosis (months)
|
Median
|
33
|
33
|
41
|
Range
|
1 – 365
|
2 – 66
|
5 – 365
|
Diagnosing specialist
|
Nr.
|
%
|
Nr.
|
%
|
Nr.
|
%
|
Clinical geneticist
|
16
|
35%
|
5
|
31%
|
11
|
38%
|
General pediatrician
|
13
|
28%
|
5
|
31%
|
8
|
28%
|
Pediatrician specialized in IEM
|
12
|
26%
|
5
|
31%
|
6
|
21%
|
Pediatric neurologist
|
4
|
9%
|
1
|
6%
|
3
|
10%
|
Specialist for the mentally disabled
|
1
|
2%
|
0
|
0%
|
1
|
3%
|