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Mucopolysaccharidosis type III ( S anfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder
Author(s) -
Wijburg Frits A,
Węgrzyn Grzegorz,
Burton Barbara K,
TylkiSzymańska Anna
Publication year - 2013
Publication title -
acta paediatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/apa.12169
Subject(s) - autism spectrum disorder , medicine , autism , attention deficit hyperactivity disorder , attention deficit , mucopolysaccharidosis , attention deficit disorder , pediatrics , disease , cognition , developmental disorder , neurodevelopmental disorder , infantile autism , psychiatry
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 .