Table 6.
Characteristics of the entire group of MPS III patients, RP MPS III patients and SP MPS III patients at the first visit to the GP for an MPS III-related symptom
| First visit to general practitioner | ||||||
|---|---|---|---|---|---|---|
| All MPS III | RP MPS III | SP MPS III | ||||
| Number of patients | 45 | 16 | 28 | |||
| Age at 1st visit (months) | ||||||
| Median | 22 | 16 | 24 | |||
| Range | 1 – 84 | 1 – 33 | 1 – 84 | |||
| Symptom leading to 1st visit | Nr. | % | Nr. | % | Nr. | % |
| Developmental delay | 9 | 20% | 2 | 13% | 6 | 21% |
| Upper airway problems | 30 | 67% | 12 | 75% | 18 | 64% |
| Diarrhea | 1 | 2% | 0 | 0% | 1 | 4% |
| Liver problems | 1 | 2% | 0 | 0% | 1 | 4% |
| Seizures | 1 | 2% | 0 | 0% | 1 | 4% |
| Inguinal/umbilical hernia | 3 | 7% | 2 | 13% | 1 | 4% |
| Other MPS III-related symptoms at 1st presentation | Nr. | % | Nr. | % | Nr. | % |
| Developmental delay | 15 | 33% | 3 | 19% | 12 | 43% |
| Behavioral problems | 29 | 64% | 10 | 63% | 18 | 64% |
| Dysmorphic features | 27 | 60% | 11 | 69% | 15 | 54% |
| Upper airway problems | 10 | 22% | 2 | 13% | 7 | 25% |
| Diarrhea | 23 | 51% | 11 | 69% | 11 | 39% |
| Sleeping disturbances | 21 | 47% | 9 | 56% | 11 | 39% |
| Inguinal/umbilical hernia | 11 | 24% | 8 | 50% | 3 | 11% |
One of the SP MPS III patients did not visit the GP before receiving a referral to a medical specialist. One of the patients was considered too young to determine the phenotypic severity at the time of this study. The sums of the percentages of each item may not equal 100% because the percentages represent rounded values