mental health perspectives of hunter syndrome: case reports of two biological siblings

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ID: 172012
2016
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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.
Reference Key
garg2016medicalmental Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Kabir Garg;Sujita Kumar Kar
Journal european journal of language policy
Year 2016
DOI
10.4103/0975-2870.186068
URL
http://www.mjdrdypu.org/article.asp?issn=0975-2870;year=2016;volume=9;issue=4;spage=534;epage=536;aulast=Garg
Keywords
cognitive decline hunter syndrome medicine

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