Abnormal cranium development in children and adolescents affected by syndromes or diseases associated with neurodysfunction

Abstract Microcephaly and macrocephaly can be considered both cranial growth defects and clinical symptoms. There are two assessment criteria: one applied in dysmorphology and another conventionally used in clinical practice. The determination of which definition or under which paradigm the terminol...

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Autores principales:	Agnieszka Guzik, Lidia Perenc, Mariusz Drużbicki, Justyna Podgórska-Bednarz
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/7e92c025b41943e796d280090d52d7d0
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spelling	oai:doaj.org-article:7e92c025b41943e796d280090d52d7d02021-12-02T14:06:48ZAbnormal cranium development in children and adolescents affected by syndromes or diseases associated with neurodysfunction10.1038/s41598-021-82511-x2045-2322https://doaj.org/article/7e92c025b41943e796d280090d52d7d02021-02-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-82511-xhttps://doaj.org/toc/2045-2322Abstract Microcephaly and macrocephaly can be considered both cranial growth defects and clinical symptoms. There are two assessment criteria: one applied in dysmorphology and another conventionally used in clinical practice. The determination of which definition or under which paradigm the terminology should be applied can vary on a daily basis and from case to case as necessity dictates, as can defining the relationship between microcephaly or macrocephaly and syndromes or diseases associated with neurodysfunction. Thus, there is a need for standardization of the definition of microcephaly and macrocephaly. This study was designed to investigate associations between abnormal cranial development (head size) and diseases or syndromes linked to neurodysfunction based on essential data collected upon admission of patients to the Neurological Rehabilitation Ward for Children and Adolescents in Poland. The retrospective analysis involved 327 children and adolescents with medical conditions associated with neurodysfunction. Two assessment criteria were applied to identify subgroups of patients with microcephaly, normal head size, and macrocephaly: one system commonly used in clinical practice and another applied in dysmorphology. Based on the results, children and adolescents with syndromes or diseases associated with neurodysfunction present abnormal cranial development (head size), and microcephaly rarely co-occurs with neuromuscular disease. Macrocephaly frequently co-occurs with neural tube defects or neuromuscular diseases and rarely with cerebral palsy (p < 0.05); microcephaly frequently co-occurs with epilepsy and hypothyroidism (p < 0.001). Traditional classification facilitates the identification of a greater number of relationships and is therefore recommended for use in daily practice. There is a need to standardize the definition of microcephaly and macrocephaly and to include them in ‘Human Phenotype Ontology’ terms.Agnieszka GuzikLidia PerencMariusz DrużbickiJustyna Podgórska-BednarzNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Agnieszka Guzik Lidia Perenc Mariusz Drużbicki Justyna Podgórska-Bednarz Abnormal cranium development in children and adolescents affected by syndromes or diseases associated with neurodysfunction
description	Abstract Microcephaly and macrocephaly can be considered both cranial growth defects and clinical symptoms. There are two assessment criteria: one applied in dysmorphology and another conventionally used in clinical practice. The determination of which definition or under which paradigm the terminology should be applied can vary on a daily basis and from case to case as necessity dictates, as can defining the relationship between microcephaly or macrocephaly and syndromes or diseases associated with neurodysfunction. Thus, there is a need for standardization of the definition of microcephaly and macrocephaly. This study was designed to investigate associations between abnormal cranial development (head size) and diseases or syndromes linked to neurodysfunction based on essential data collected upon admission of patients to the Neurological Rehabilitation Ward for Children and Adolescents in Poland. The retrospective analysis involved 327 children and adolescents with medical conditions associated with neurodysfunction. Two assessment criteria were applied to identify subgroups of patients with microcephaly, normal head size, and macrocephaly: one system commonly used in clinical practice and another applied in dysmorphology. Based on the results, children and adolescents with syndromes or diseases associated with neurodysfunction present abnormal cranial development (head size), and microcephaly rarely co-occurs with neuromuscular disease. Macrocephaly frequently co-occurs with neural tube defects or neuromuscular diseases and rarely with cerebral palsy (p < 0.05); microcephaly frequently co-occurs with epilepsy and hypothyroidism (p < 0.001). Traditional classification facilitates the identification of a greater number of relationships and is therefore recommended for use in daily practice. There is a need to standardize the definition of microcephaly and macrocephaly and to include them in ‘Human Phenotype Ontology’ terms.
format	article
author	Agnieszka Guzik Lidia Perenc Mariusz Drużbicki Justyna Podgórska-Bednarz
author_facet	Agnieszka Guzik Lidia Perenc Mariusz Drużbicki Justyna Podgórska-Bednarz
author_sort	Agnieszka Guzik
title	Abnormal cranium development in children and adolescents affected by syndromes or diseases associated with neurodysfunction
title_short	Abnormal cranium development in children and adolescents affected by syndromes or diseases associated with neurodysfunction
title_full	Abnormal cranium development in children and adolescents affected by syndromes or diseases associated with neurodysfunction
title_fullStr	Abnormal cranium development in children and adolescents affected by syndromes or diseases associated with neurodysfunction
title_full_unstemmed	Abnormal cranium development in children and adolescents affected by syndromes or diseases associated with neurodysfunction
title_sort	abnormal cranium development in children and adolescents affected by syndromes or diseases associated with neurodysfunction
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/7e92c025b41943e796d280090d52d7d0
work_keys_str_mv	AT agnieszkaguzik abnormalcraniumdevelopmentinchildrenandadolescentsaffectedbysyndromesordiseasesassociatedwithneurodysfunction AT lidiaperenc abnormalcraniumdevelopmentinchildrenandadolescentsaffectedbysyndromesordiseasesassociatedwithneurodysfunction AT mariuszdruzbicki abnormalcraniumdevelopmentinchildrenandadolescentsaffectedbysyndromesordiseasesassociatedwithneurodysfunction AT justynapodgorskabednarz abnormalcraniumdevelopmentinchildrenandadolescentsaffectedbysyndromesordiseasesassociatedwithneurodysfunction
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Abnormal cranium development in children and adolescents affected by syndromes or diseases associated with neurodysfunction

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