Work

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

Year: 2013

Type: review

Abstract: UNLABELLED: 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.

Source: Acta Paediatrica

DOI: 10.1111/apa.12169

Authors: Frits A Wijburg, Grzegorz Węgrzyn, Barbara K Burton, Anna Tylki‐Szymańska

Institutions: Amsterdam UMC Location University of Amsterdam, University of Gdańsk, Lurie Children's Hospital, Children's Memorial Health Institute

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Genetics (clinical)

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funders: BioMarin Pharmaceutical, Actelion Pharmaceuticals