Table 5 Characteristics of the entire group of MPS I patients, MPS I Hurler patients and non-Hurler patients at the time of diagnosis
Final diagnosis of MPS I | ||||||
|---|---|---|---|---|---|---|
All MPS I | Hurler | Non-Hurler | ||||
Number of patients | 29 | 20 | 9 | |||
Age at diagnosis (months) | ||||||
Median | 12 | 11 | 57 | |||
Range | 5 – 151 | 5 – 31 | 5 – 151 | |||
Delay medical specialist - diagnosis (months) | ||||||
Median | 9 | 8 | 28 | |||
Range | 1 – 147 | 1 – 24 | 2 – 147 | |||
Diagnosing specialist | Nr. | % | Nr. | % | Nr. | % |
General pediatrician | 13 | 45% | 10 | 50% | 3 | 33% |
Clinical geneticist | 4 | 14% | 3 | 15% | 1 | 11% |
Pediatrician specialized in IEM | 9 | 31% | 5 | 25% | 4 | 44% |
Ophthalmologist | 2 | 7% | 2 | 10% | 0 | 0% |
Rheumatologist | 1 | 3% | 0 | 0% | 1 | 11% |