Table 7 Characteristics of the entire group of MPS III patients, RP MPS III patients and SP MPS III patients at the first visit to a medical specialist for an MPS III-related symptom
First visit to a medical specialist | ||||||
|---|---|---|---|---|---|---|
All MPS III | RP MPS III | SP MPS III | ||||
Number of patients | 46 | 16 | 29 | |||
Age at 1st visit (months) | ||||||
Median | 28 | 19 | 30 | |||
Range | 2 – 171 | 6 – 39 | 2 – 171 | |||
Specialism of 1st referral | Nr. | % | Nr. | % | Nr. | % |
Ear, nose, and throat specialist | 30 | 65% | 13 | 81% | 16 | 55% |
General pediatrician | 7 | 15% | 1 | 6% | 6 | 21% |
Pediatric neurologist | 2 | 4% | 0 | 0% | 2 | 7% |
Pediatric surgeon | 4 | 9% | 2 | 13% | 2 | 7% |
Pediatric cardiologist | 1 | 2% | 0 | 0% | 1 | 3% |
Pediatric psychiatrist | 2 | 4% | 0 | 0% | 2 | 7% |
Symptom leading to 1st referral | Nr. | % | Nr. | % | Nr. | % |
Developmental delay | 7 | 15% | 0 | 0% | 7 | 24% |
Upper airway problems | 2 | 4% | 1 | 6% | 1 | 3% |
Adenotonsillectomy/tympanostomy tubes | 29 | 63% | 13 | 81% | 15 | 52% |
Diarrhea | 1 | 2% | 0 | 0% | 1 | 3% |
Liver problems | 1 | 2% | 0 | 0% | 1 | 3% |
Seizures | 1 | 2% | 0 | 0% | 1 | 3% |
Correction Inguinal/umbilical hernia | 4 | 9% | 2 | 13% | 2 | 7% |
Cardiac murmur | 1 | 2% | 0 | 0% | 1 | 3% |
Other MPS III-related symptoms at 1st referral | Nr. | % | Nr. | % | Nr. | % |
Developmental delay | 21 | 46% | 10 | 63% | 10 | 34% |
Behavioral problems | 35 | 76% | 14 | 88% | 20 | 69% |
Dysmorphic features | 29 | 63% | 11 | 69% | 17 | 59% |
Upper airway problems | 10 | 22% | 1 | 6% | 9 | 31% |
Diarrhea | 23 | 50% | 11 | 69% | 11 | 38% |
Sleeping disturbances | 21 | 46% | 9 | 56% | 12 | 41% |
Inguinal/umbilical hernia | 11 | 24% | 9 | 56% | 2 | 7% |