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

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

ISSN: 1750-1172