Cognitive and behaviour profiles of children with mucopolysaccharidosis Type II
Louise Crowe, Joy Yaplito-Lee, Vicki Anderson, Heidi Peters
COGNITIVE NEUROPSYCHOLOGY | ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD | Published : 2017
Mucopolysaccharidosis Type II (MPS II) or Hunter Syndrome is a rare X-linked condition, due to a defect in a lysosomal enzyme involved in the breakdown of glycosaminoglycans. It is a progressive condition with worsening over time; however, symptom severity and progression rates vary. Normal intellectual function has been reported in males with mild MPS II but few studies are available that provide comprehensive cognitive profiles. Enzyme replacement therapy (ERT) can stabilize physical symptoms and has become standard treatment. Whether ERT can influence cognition is currently unknown. Considering this, we conducted cognitive, fine motor, and behavioural assessments with three males (7;6-12;..View full abstract
Awarded by Australian National Health and Medical Research Council (NHMRC)
Louise Crowe is funded through the Australian National Health and Medical Research Council (NHMRC) [grant number 1071544] Early Career Fellowship; and Vicki Anderson is funded by an NHMRC Senior Practitioner Fellowship. This study was funded by Murdoch Childrens Research Institute; and the Victorian Government Operational Infrastructure.