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

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Development of a mnemonic screening tool for identifying subjects with Hunter syndrome. / Cohn, Gabriel M; Morin, Isabelle; Whiteman, David A H; Hunter Outcome Survey Investigators.

in: EUR J PEDIATR, Jahrgang 172, Nr. 7, 01.07.2013, S. 965-70.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Cohn, GM, Morin, I, Whiteman, DAH & Hunter Outcome Survey Investigators 2013, 'Development of a mnemonic screening tool for identifying subjects with Hunter syndrome', EUR J PEDIATR, Jg. 172, Nr. 7, S. 965-70. https://doi.org/10.1007/s00431-013-1967-x

APA

Cohn, G. M., Morin, I., Whiteman, D. A. H., & Hunter Outcome Survey Investigators (2013). Development of a mnemonic screening tool for identifying subjects with Hunter syndrome. EUR J PEDIATR, 172(7), 965-70. https://doi.org/10.1007/s00431-013-1967-x

Vancouver

Cohn GM, Morin I, Whiteman DAH, Hunter Outcome Survey Investigators. Development of a mnemonic screening tool for identifying subjects with Hunter syndrome. EUR J PEDIATR. 2013 Jul 1;172(7):965-70. https://doi.org/10.1007/s00431-013-1967-x

Bibtex

@article{aef408d2109e44d38b7b4087af2eff39,
title = "Development of a mnemonic screening tool for identifying subjects with Hunter syndrome",
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.",
keywords = "Diagnosis, Differential, Female, Humans, Male, Mucopolysaccharidosis II, Registries, Symptom Assessment",
author = "Cohn, {Gabriel M} and Isabelle Morin and Whiteman, {David A H} and {Hunter Outcome Survey Investigators} and Muschol, {Nicole Maria}",
year = "2013",
month = jul,
day = "1",
doi = "10.1007/s00431-013-1967-x",
language = "English",
volume = "172",
pages = "965--70",
journal = "EUR J PEDIATR",
issn = "0340-6199",
publisher = "Springer",
number = "7",

}

RIS

TY - JOUR

T1 - Development of a mnemonic screening tool for identifying subjects with Hunter syndrome

AU - Cohn, Gabriel M

AU - Morin, Isabelle

AU - Whiteman, David A H

AU - Hunter Outcome Survey Investigators

AU - Muschol, Nicole Maria

PY - 2013/7/1

Y1 - 2013/7/1

N2 - 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.

AB - 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.

KW - Diagnosis, Differential

KW - Female

KW - Humans

KW - Male

KW - Mucopolysaccharidosis II

KW - Registries

KW - Symptom Assessment

U2 - 10.1007/s00431-013-1967-x

DO - 10.1007/s00431-013-1967-x

M3 - SCORING: Journal article

C2 - 23468122

VL - 172

SP - 965

EP - 970

JO - EUR J PEDIATR

JF - EUR J PEDIATR

SN - 0340-6199

IS - 7

ER -