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.
Colville
G A
GA
Department of Psychological Medicine, Hospital for Sick Children, London, UK.
Bax
M A
MA
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics / Q000517:prevention & control; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008403:Mass Screening; D009083:Mucopolysaccharidoses / Q000175:diagnosis / Q000235:genetics / Q000517:prevention & control*; D010641:Phenotype