SEARCH

SEARCH BY CITATION

Keywords:

  • Attention deficit/hyperactivity disorder;
  • Autism spectrum disorder;
  • Developmental disabilities;
  • Mucopolysaccharidosis type III;
  • Speech/language disorders

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.

Conclusion

Children with developmental or speech delay, especially those with a characteristic somatic feature or behavioural abnormalities, should be screened for MPS III.