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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

From: Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications

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%
  1. The sums of the percentages of each item may not equal 100% because the percentages represent rounded values