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, Vol. 172, No. 7, 01.07.2013, p. 965-70.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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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 -