Skip to main content

Table 8 Characteristics of the entire group of MPS III patients, RP MPS III patients and SP MPS III patients at the time of diagnosis

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

Final diagnosis of MPS III
  All MPS III RP MPS III SP MPS III
Number of patients 46 16 29
Age at diagnosis (months)
 Median 62 54 71
 Range 20 – 522 34 – 79 20 – 522
Delay general practitioner – diagnosis (months)
 Median 39 39 42
 Range 2 – 438 6 – 76 3 – 438
Delay medical specialist – diagnosis (months)
 Median 33 33 41
 Range 1 – 365 2 – 66 5 – 365
Diagnosing specialist Nr. % Nr. % Nr. %
 Clinical geneticist 16 35% 5 31% 11 38%
 General pediatrician 13 28% 5 31% 8 28%
 Pediatrician specialized in IEM 12 26% 5 31% 6 21%
 Pediatric neurologist 4 9% 1 6% 3 10%
 Specialist for the mentally disabled 1 2% 0 0% 1 3%
  1. The sums of the percentages of each item may not equal 100% because the percentages represent rounded values. IEM: inborn errors of metabolism