TY - JOUR A1 - Garg, Kabir A1 - Kar, Sujita T1 - Mental health perspectives of Hunter syndrome: Case reports of two biological siblings Y1 - 2016/7/1 JF - Medical Journal of Dr. D.Y. Patil University JO - Med J DY Patil Univ SP - 534 EP - 536 VL - 9 IS - 4 UR - 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 DO - 10.4103/0975-2870.186068 N2 - 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. ER -