Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

Frits A. Wijburg*, Grzegorz Wȩgrzyn, Barbara K. Burton, Anna Tylki-Szymańska

*Corresponding author for this work

Research output: Contribution to journalReview article

56 Scopus citations


Mucopolysaccharidosis III is a rare genetic disease characterized by progressive cognitive decline and severe hyperactivity that does not respond to stimulants. Somatic features are relatively mild. Patients are often initially misdiagnosed as having idiopathic developmental delay, attention deficit/hyperactivity disorder and/or autism spectrum disorders, putting them at risk for unnecessary testing and treatments. Conclusion Children with developmental or speech delay, especially those with a characteristic somatic feature or behavioural abnormalities, should be screened for MPS III.

Original languageEnglish (US)
Pages (from-to)462-470
Number of pages9
JournalActa Paediatrica, International Journal of Paediatrics
Issue number5
StatePublished - May 1 2013



  • Attention deficit/hyperactivity disorder
  • Autism spectrum disorder
  • Developmental disabilities
  • Mucopolysaccharidosis type III
  • Speech/language disorders

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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