Table 4.
Characteristics of the entire group of MPS I patients at the first visit to a medical specialist for an MPS I-related symptom as specified for the MPS I Hurler and non-Hurler patients
| First visit to a medical specialist | ||||||
|---|---|---|---|---|---|---|
| All MPS I | Hurler | Non-Hurler | ||||
| Number of patients | 29 | 20 | 9 | |||
| Age at first visit (months) | ||||||
| Median | 4 | 3 | 12 | |||
| Range | 0 – 54 | 0 – 20 | 0 – 54 | |||
| Specialism of 1st referral | Nr. | % | Nr. | % | Nr. | % |
| Ear, nose, and throat specialist | 3 | 10% | 2 | 10% | 1 | 11% |
| General pediatrician | 20 | 69% | 14 | 70% | 6 | 67% |
| Orthopedic surgeon | 2 | 7% | 1 | 5% | 1 | 11% |
| Pediatric surgeon | 3 | 10% | 2 | 10% | 1 | 11% |
| Pediatric cardiologist | 1 | 3% | 1 | 5% | 0 | 0% |
| Symptom leading to 1st referral | Nr. | % | Nr. | % | Nr. | % |
| Recurrent airway infections | 7 | 24% | 5 | 25% | 2 | 22% |
| Upper airway obstruction | 3 | 10% | 2 | 10% | 1 | 11% |
| Inguinal/umbilical hernia | 4 | 14% | 3 | 15% | 1 | 11% |
| Hydrocephalus | 2 | 7% | 1 | 5% | 1 | 11% |
| Hepatosplenomegaly | 1 | 3% | 1 | 5% | 0 | 0% |
| Kyphosis/hip dysplasia | 3 | 10% | 2 | 10% | 1 | 11% |
| Joint stiffness | 1 | 3% | 0 | 0% | 1 | 11% |
| Facial features | 4 | 14% | 4 | 20% | 0 | 0% |
| Hearing problems | 1 | 3% | 1 | 5% | 0 | 0% |
| Growth delay | 2 | 7% | 1 | 5% | 1 | 11% |
| Developmental delay | 1 | 3% | 0 | 0% | 1 | 11% |
| Other MPS I-related symptoms at 1st referral |
Nr. | % | Nr. | % | Nr. | % |
| Recurrent airway infections | 7 | 24% | 4 | 20% | 3 | 33% |
| Upper airway obstruction | 10 | 34% | 9 | 45% | 1 | 5% |
| Inguinal/umbilical hernia | 8 | 28% | 6 | 30% | 2 | 10% |
| Hydrocephalus | 2 | 7% | 2 | 10% | 0 | 0% |
| Hepatosplenomegaly | 2 | 7% | 1 | 5% | 1 | 5% |
| Joint stiffness | 3 | 10% | 2 | 10% | 1 | 11% |
| Facial features | 4 | 14% | 2 | 10% | 2 | 10% |
| Hearing problems | 6 | 21% | 4 | 20% | 2 | 10% |
| Vision problems | 1 | 3% | 0 | 0% | 1 | 5% |
| Developmental delay | 5 | 5% | 2 | 10% | 3 | 15% |
| Growth delay | 1 | 3% | 0 | 0% | 1 | 5% |
The sums of the percentages of each item may not equal 100% because the percentages represent rounded values