Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization

Abstract Nevoid basal cell carcinoma syndrome (NBCCS) is a tumor predisposition condition, the cardinal features of which emerge in adolescence or adulthood. Using statistical optimization, this study proposes NBCCS criteria with improved sensitivity in children less than 18 years of age. Earlier de...

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Autores principales:	Nina B. Gold, Ian M. Campbell, Sarah E. Sheppard, Wen-Hann Tan
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/3c1bab1bdf3f4c86913dc6b4c521573c
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spelling	oai:doaj.org-article:3c1bab1bdf3f4c86913dc6b4c521573c2021-12-02T19:16:10ZProposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization10.1038/s41598-021-98752-92045-2322https://doaj.org/article/3c1bab1bdf3f4c86913dc6b4c521573c2021-10-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-98752-9https://doaj.org/toc/2045-2322Abstract Nevoid basal cell carcinoma syndrome (NBCCS) is a tumor predisposition condition, the cardinal features of which emerge in adolescence or adulthood. Using statistical optimization, this study proposes NBCCS criteria with improved sensitivity in children less than 18 years of age. Earlier detection may lead to improved surveillance and prevention of sequelae. A survey eliciting medical history was completed by, or on behalf of, individuals with NBCCS. Based on these findings, criteria for suspicion of NBCCS in children were suggested using information from a Bernoulli naïve Bayes classifier relying on the human phenotype ontology. The sensitivity and specificity of the existing and proposed diagnostic criteria were also assessed. Participants (n = 48) reported their first signs of NBCCS appeared at a median age of 8 months, but by our retrospective analysis, they did not fulfill the current diagnostic criteria until a median age of 7 years. This study delineates the early-onset features of NBCCS and proposes criteria that should prompt consideration of NBCCS. Additionally, we demonstrate a method for quantitatively assessing the utility of diagnostic criteria for genetic disorders.Nina B. GoldIan M. CampbellSarah E. SheppardWen-Hann TanNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Nina B. Gold Ian M. Campbell Sarah E. Sheppard Wen-Hann Tan Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization
description	Abstract Nevoid basal cell carcinoma syndrome (NBCCS) is a tumor predisposition condition, the cardinal features of which emerge in adolescence or adulthood. Using statistical optimization, this study proposes NBCCS criteria with improved sensitivity in children less than 18 years of age. Earlier detection may lead to improved surveillance and prevention of sequelae. A survey eliciting medical history was completed by, or on behalf of, individuals with NBCCS. Based on these findings, criteria for suspicion of NBCCS in children were suggested using information from a Bernoulli naïve Bayes classifier relying on the human phenotype ontology. The sensitivity and specificity of the existing and proposed diagnostic criteria were also assessed. Participants (n = 48) reported their first signs of NBCCS appeared at a median age of 8 months, but by our retrospective analysis, they did not fulfill the current diagnostic criteria until a median age of 7 years. This study delineates the early-onset features of NBCCS and proposes criteria that should prompt consideration of NBCCS. Additionally, we demonstrate a method for quantitatively assessing the utility of diagnostic criteria for genetic disorders.
format	article
author	Nina B. Gold Ian M. Campbell Sarah E. Sheppard Wen-Hann Tan
author_facet	Nina B. Gold Ian M. Campbell Sarah E. Sheppard Wen-Hann Tan
author_sort	Nina B. Gold
title	Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization
title_short	Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization
title_full	Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization
title_fullStr	Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization
title_full_unstemmed	Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization
title_sort	proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/3c1bab1bdf3f4c86913dc6b4c521573c
work_keys_str_mv	AT ninabgold proposedcriteriafornevoidbasalcellcarcinomasyndromeinchildrenassessedusingstatisticaloptimization AT ianmcampbell proposedcriteriafornevoidbasalcellcarcinomasyndromeinchildrenassessedusingstatisticaloptimization AT sarahesheppard proposedcriteriafornevoidbasalcellcarcinomasyndromeinchildrenassessedusingstatisticaloptimization AT wenhanntan proposedcriteriafornevoidbasalcellcarcinomasyndromeinchildrenassessedusingstatisticaloptimization
_version_	1718376965450235904

Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization

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