The aim of this project was to understand how and when MPS II is diagnosed and treated in the United Kingdom and to determine the prevalence of CNS involvement and concomitant diagnosis.
Seventy-one individuals with MPS II resident in the UK were identified by the MPS Society and invited to take part in a telephone survey. These interviews took place in December 2015 and January 2016. Forty-one individuals agreed to take part ranging in age from 1 to 36 years. Findings showed that the age of diagnosis stretched from 6 days to 7 years with earlier diagnosis in younger individuals (under 8 years). Sixty-five percent of individuals had seen other physicians or specialist prior to their MPS II diagnosis. In regards to treatment, ninety percent of individuals were being or had been treated with ERT with a mean start age of 5.9 years. One individual had not received any form of treatment.
