TY - JOUR
T1 - Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder
AU - Wijburg, Frits A.
AU - Wȩgrzyn, Grzegorz
AU - Burton, Barbara K.
AU - Tylki-Szymańska, Anna
PY - 2013/5
Y1 - 2013/5
N2 - 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.
AB - 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.
KW - Attention deficit/hyperactivity disorder
KW - Autism spectrum disorder
KW - Developmental disabilities
KW - Mucopolysaccharidosis type III
KW - Speech/language disorders
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U2 - 10.1111/apa.12169
DO - 10.1111/apa.12169
M3 - Review article
C2 - 23336697
AN - SCOPUS:84876147561
VL - 102
SP - 462
EP - 470
JO - Acta Paediatrica, International Journal of Paediatrics
JF - Acta Paediatrica, International Journal of Paediatrics
SN - 0803-5253
IS - 5
ER -