Early presentation in the mucopolysaccharide disorders

The findings of an international questionnaire study of 258 children, affected by the four main subtypes of mucopolysaccharidosis, are presented. Questionnaires were completed by a parent or main carer and all subjects were alive at the time of contact and suffering from Hurler, Hunter, Sanfilippo or Morquio syndrome. A significant proportion of parents of Hurler children (24%) were unaware that anything was wrong with their baby before diagnosis but a larger number (45%) had felt concerned about their child's appearance. Similarly, in the case of the Morquio children, in 75% of cases, parents had been worried about some aspect of their child's physical appearance. In contrast, it was frequently delayed or regressing language which alerted parents of Sanfilippo (56%) and Hunter (32%) children, and this was associated with behaviour problems in 43% of Sanfilippo cases. There were many cases of delayed diagnosis, often occurring more than 2 years after concerns were first raised.