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Open Access 01-07-2013 | Original Article

Development of a mnemonic screening tool for identifying subjects with Hunter syndrome

Authors: Gabriel M. Cohn, Isabelle Morin, David A. H. Whiteman, on behalf of the Hunter Outcome Survey Investigators

Published in: European Journal of Pediatrics | Issue 7/2013

Abstract

The Hunter Outcome Survey (HOS), an international, long-term observational registry of patients with Hunter syndrome, was used to develop a simple mnemonic screening tool (HUNTER) to aid in the diagnosis of Hunter syndrome. Data regarding the prediagnosis prevalence of ten specific signs and symptoms present in individual patients enrolled in the HOS were used to develop the HUNTER mnemonic screening tool. A total score of 6 or greater using a weighting scheme in which certain manifestations were assigned a weight of 2 (facial dysmorphism, nasal obstruction or rhinorrhea, enlarged tongue, enlarged liver, enlarged spleen, joint stiffness) and others assigned a weight of 1 (hernia, hearing impairment, enlarged tonsils, airway obstruction or sleep apnea) correctly identified 95 % of patients who had no family history of Hunter syndrome or who were not diagnosed prenatally. No association between age at diagnosis and HUNTER score was found. Conclusion: The HUNTER mnemonic appears to be a useful screening tool. Further validation in the clinical setting will be necessary to confirm its utility.

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Title: Development of a mnemonic screening tool for identifying subjects with Hunter syndrome
Authors: Gabriel M. Cohn
Isabelle Morin
David A. H. Whiteman
on behalf of the Hunter Outcome Survey Investigators
Publication date: 01-07-2013
Publisher: Springer Berlin Heidelberg
Published in: European Journal of Pediatrics / Issue 7/2013
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-013-1967-x

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Development of a mnemonic screening tool for identifying subjects with Hunter syndrome

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