author = {Garg, Kabir. and Kar, Sujita.}, title = {{Mental health perspectives of Hunter syndrome: Case reports of two biological siblings}}, journal ={Medical Journal of Dr. D.Y. Patil University}, volume ={9}, number ={4}, pages = {534-536}, doi = {10.4103/0975-2870.186068}, year = {2016}, abstract ={ Hunter syndrome is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase, leading to progressive accumulation of a substance called glycosaminoglycans in nearly all cell types, tissues, and organs. Hunter syndrome presents with facial dysmorphism, airway diseases, skeletal defects, cardiomyopathies, and neuropsychiatric manifestations. Mental subnormality is a cardinal feature in Hunter syndrome. This is a progressive cognitive decline that is not amenable to enzyme replacement therapy. Due to progressive cognitive decline, training the children to improve the adaptive functioning is a challenge that creates immense stress for the caregivers. Patients with Hunter syndrome should undergo serial assessment of intellectual ability and may be trained accordingly.}, URL ={https://journals.lww.com/mjdy/pages/default.aspx/article.asp?issn=0975-2870;year=2016;volume=9;issue=4;spage=534;epage=536;aulast=Garg;t=6}, eprint ={https://journals.lww.com/mjdy/pages/default.aspx/article.asp?issn=0975-2870;year=2016;volume=9;issue=4;spage=534;epage=536;aulast=Garg;t=6} }