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

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 symptom...

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Published inEuropean journal of pediatrics Vol. 172; no. 7; pp. 965 - 970
Main Authors Cohn, Gabriel M., Morin, Isabelle, Whiteman, David A. H.
Format Journal Article
LanguageEnglish
Published Berlin/Heidelberg Springer Berlin Heidelberg 01.07.2013
Springer Nature B.V
Subjects
Airway management
Annan hälsovetenskap
Cognitive ability
Diagnosis, Differential
Enzymes
Family medical history
Female
Heparan sulfate
Hernias
Humans
Hälsovetenskap
Klinisk medicin
Male
Medicin och hälsovetenskap
Medicine
Medicine & Public Health
Mucopolysaccharidosis II - diagnosis
Mucopolysaccharidosis II - physiopathology
Neurologi
Original
Original Article
Patients
Pediatrics
Physicians
Primary care
Registries
Spleen
Symptom Assessment - methods
Mucopolysaccharidosis type II
Hunter syndrome
Diagnosis
Lysosomal storage disease
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Summary: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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ISSN:0340-6199
1432-1076
1432-1076
DOI:10.1007/s00431-013-1967-x