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% |