A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F16%3A10327668" target="_blank" >RIV/00064165:_____/16:10327668 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/16:10327668
Result on the web
<a href="http://dx.doi.org/10.1186/s12887-016-0641-7" target="_blank" >http://dx.doi.org/10.1186/s12887-016-0641-7</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1186/s12887-016-0641-7" target="_blank" >10.1186/s12887-016-0641-7</a>

Result language
angličtina
Original language name
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
Original language description
Background: Niemann-Pick disease Type C (NP-C) is difficult to diagnose due to heterogeneous and nonspecific clinical presentation. The NP-C Suspicion Index (SI) was developed to identify patients with a high likelihood of NP-C; however, it was less reliable in patients aged < 4 years. Methods: An early-onset NP-C SI was constructed following retrospective chart review of symptom presentation in 200 patients from nine centres comprised of 106 NP-C cases, 31 non-cases and 63 controls. Statistical analyses defined strength of association between symptoms and a diagnosis of NP-C and assigned risk prediction scores to each symptom. Results: Visceral symptoms were amongst the strongest predictors. Except for gelastic cataplexy and vertical supranuclear gaze palsy, central nervous system symptoms were not discriminatory in this population. Performance of the early-onset NP-C SI was superior versus the original NP-C SI in patients aged <= 4 years. Conclusions: The early-onset NP-C SI can help physicians, especially those with limited knowledge of NP-C, to identify patients aged <= 4 years who warrant further investigation for NP-C.
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FH - Neurology, neuro-surgery, nuero-sciences
OECD FORD branch
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Project
<a href="/en/project/NT12239" target="_blank" >NT12239: Niemann-Pick disease type C : clinical, molecular genetic, biochemical and morphological study. Development of new diagnostic and predictive algorithms</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2016
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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