title: Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder.
abstract: 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.
  
  
  CONCLUSIONS
  Children with developmental or speech delay, especially those with a characteristic somatic feature or behavioural abnormalities, should be screened for MPS III.
authors: Department of Paediatrics, Academic Medical Centre, Amsterdam, The Netherlands. f.a.wijburg@amc.uva.nl
authors: Frits A
authors: FA
authors: Wijburg
authors: Grzegorz
authors: G
authors: Węgrzyn
authors: Barbara K
authors: BK
authors: Burton
authors: Anna
authors: A
authors: Tylki-Szymańska
mesh_terms: D001289:Attention Deficit Disorder with Hyperactivity / Q000175:diagnosis*; D015415:Biomarkers; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000175:diagnosis*; D002658:Developmental Disabilities / Q000175:diagnosis*; D003951:Diagnostic Errors; D006801:Humans; D009084:Mucopolysaccharidosis III / Q000175:diagnosis* / Q000628:therapy
chemical_list: D015415:Biomarkers