Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder.
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ABSTRACT:
SUBMITTER: Wijburg FA
PROVIDER: S-EPMC3654162 | biostudies-literature | 2013 May
REPOSITORIES: biostudies-literature
Publications
Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder.
Wijburg Frits A FA Węgrzyn Grzegorz G Burton Barbara K BK Tylki-Szymańska Anna A
Acta paediatrica (Oslo, Norway : 1992) 20130206 5
<h4>Unlabelled</h4>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.<h4>Conclusion</h4>Children with developmental or speech delay, ...[more]
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