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

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

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%

The sums of the percentages of each item may not equal 100% because the percentages represent rounded values. IEM: inborn errors of metabolism