Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2013 Jul;172(7):965-70.
doi: 10.1007/s00431-013-1967-x. Epub 2013 Mar 7.

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

Gabriel M Cohn  1 , Isabelle Morin, David A H Whiteman; Hunter Outcome Survey Investigators
Collaborators, Affiliations

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

Gabriel M Cohn et al. Eur J Pediatr. 2013 Jul.

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.

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
Preliminary testing of weighting schemes for the HUNTER score. The black bars represent weighting 1, and the gray bars represent weighting 2. The maximum score for weighting 1 is 10, and the maximum score for weighting 2 is 16. N = 25 randomly selected patients from HOS. Based on two random samples of patients from the January 10, 2008 data extract. HOS Hunter Outcome Survey
Fig. 2
Fig. 2
HUNTER evaluation with patients in HOS with complete information. N = 237 patients enrolled in HOS with complete information. Based on the April 16, 2009 data extract and excluding patients with missing information, prenatal diagnosis, or family history of Hunter. HOS Hunter Outcome Survey
Fig. 3
Fig. 3
The association between HUNTER score and age at diagnosis. N = 237 patients in HOS with complete information. Based on the April 16, 2009 data extract and excluding patients with missing information or with prenatal diagnosis or family history of Hunter. HOS Hunter Outcome Survey
See this image and copyright information in PMC

References

    1. Bach G, Eisenberg F, Jr, Cantz M, Neufeld EF. The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase. Proc Natl Acad Sci USA. 1973;70:2134–2138. doi: 10.1073/pnas.70.7.2134. - DOI - PMC - PubMed
    1. Baugher KM, Mattu A. Ten rules to assess and manage the acutely deteriorating patient: a practical mnemonic. Patient Saf Surg. 2011;5:29. doi: 10.1186/1754-9493-5-29. - DOI - PMC - PubMed
    1. Burton BK, Giugliani R. Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Pediatr. 2012;171:631–639. doi: 10.1007/s00431-012-1703-y. - DOI - PMC - PubMed
    1. Fernandes CJ, Speer ME. Using mnemonics and visual imagery to teach the new neonatal resuscitation program. J Perinatol. 2002;22:411–413. doi: 10.1038/sj.jp.7210739. - DOI - PubMed
    1. Guffon N, Bertrand Y, Forest I, Fouilhoux A, Froissart R. Bone marrow transplantation in children with Hunter syndrome: outcome after 7 to 17 years. J Pediatr. 2009;154:733–737. doi: 10.1016/j.jpeds.2008.11.041. - DOI - PubMed

LinkOut - more resources