Journal
ACTA PAEDIATRICA
Volume 102, Issue 5, Pages 462-470Publisher
WILEY
DOI: 10.1111/apa.12169
Keywords
Attention deficit/hyperactivity disorder; Autism spectrum disorder; Developmental disabilities; Mucopolysaccharidosis type III; Speech/language disorders
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Funding
- Shire Human Genetic Therapies, Inc.
- Shire Human Genetic Therapies
- Genzyme
- BioMarin Pharmaceutical Inc.
- Actelion Pharmaceuticals
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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.
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