Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – a EUROCAT study
Autor(a) principal: | |
---|---|
Data de Publicação: | 2018 |
Outros Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.18/6111 |
Resumo: | Septo-optic nerve dysplasia is a rare congenital anomaly with optic nerve hypoplasia, pituitary hormone deficiencies and midline developmental defects of the brain. The clinical findings are visual impairment, hypopituitarism and developmental delays. The aim of this study was to report prevalence, associated anomalies, maternal age and other epidemiological factors from a large European population based network of congenital anomaly registries (EUROCAT). Data from 29 full member registries for the years 2005-2014 were included, covering 6.4 million births. There were 99 cases with a diagnosis of septo-optic dysplasia. The prevalence of septo-optic dysplasia in Europe was calculated to lie between 1.9 and 2.5 per 100,000 births after adjusting for potential under-reporting in some registries. The prevalence was highest in babies of mothers aged 20-24 years of age and was significantly higher in UK registries compared with other EUROCAT registries (P = 0.021 in the multilevel model) and the additional risk for younger mothers was significantly greater in the UK compared to the rest of Europe (P = 0.027). The majority of septo-optic dysplasia cases were classified as an isolated cerebral anomaly (N = 76, 77%). Forty percent of diagnoses occurred in fetuses with a prenatal diagnosis. The anomaly may not be visible at birth, which is reflected in that 57% of the postnatal diagnoses occurred over 1 month after birth. This is the first population based study to describe the prevalence of septo-optic dysplasia in Europe. Septo-optic dysplasia shares epidemiological patterns with gastroschisis and this strengthens the hypothesis of vascular disruption being an aetiological factor for septo-optic dysplasia. |
id |
RCAP_5815a1c7bdb8254398ccaa2373406bf9 |
---|---|
oai_identifier_str |
oai:repositorio.insa.pt:10400.18/6111 |
network_acronym_str |
RCAP |
network_name_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository_id_str |
7160 |
spelling |
Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – a EUROCAT studyAssociated AnomaliesEUROCATMaternal AgePopulation BasedPrevalenceSepto-optic DysplasiaEstados de Saúde e de DoençaSepto-optic nerve dysplasia is a rare congenital anomaly with optic nerve hypoplasia, pituitary hormone deficiencies and midline developmental defects of the brain. The clinical findings are visual impairment, hypopituitarism and developmental delays. The aim of this study was to report prevalence, associated anomalies, maternal age and other epidemiological factors from a large European population based network of congenital anomaly registries (EUROCAT). Data from 29 full member registries for the years 2005-2014 were included, covering 6.4 million births. There were 99 cases with a diagnosis of septo-optic dysplasia. The prevalence of septo-optic dysplasia in Europe was calculated to lie between 1.9 and 2.5 per 100,000 births after adjusting for potential under-reporting in some registries. The prevalence was highest in babies of mothers aged 20-24 years of age and was significantly higher in UK registries compared with other EUROCAT registries (P = 0.021 in the multilevel model) and the additional risk for younger mothers was significantly greater in the UK compared to the rest of Europe (P = 0.027). The majority of septo-optic dysplasia cases were classified as an isolated cerebral anomaly (N = 76, 77%). Forty percent of diagnoses occurred in fetuses with a prenatal diagnosis. The anomaly may not be visible at birth, which is reflected in that 57% of the postnatal diagnoses occurred over 1 month after birth. This is the first population based study to describe the prevalence of septo-optic dysplasia in Europe. Septo-optic dysplasia shares epidemiological patterns with gastroschisis and this strengthens the hypothesis of vascular disruption being an aetiological factor for septo-optic dysplasia.ElsevierRepositório Científico do Instituto Nacional de SaúdeGarne, EsterRissmann, AnkeAddor, Marie-ClaudeBarisic, IngeborgBergman, JoriekeBraz, PaulaCavero-Carbonell, ClaraDraper, ElisabethGatt, MiriamHaeusler, MartinKlungsoyr, KariKurinczuk, JenniferLelong, NathalieLuyt, KarenLynch, BabakO’Mahony, MaryMokoroaq, OlatzNelenr, VeraNevilles, Amanda J.Pierinit, AnnaRandrianaivou, HanitraRankinv, JudithRougetw, FlorenceSchaubx, BrunoTuckery, DavidVerellen-Dumoulinz, ChristineWellesleyaa, DianaWieselab, AwiZymak-Zakutniaac, NataliiaLanzoniad, Monica,Morrisae, Joan K.2019-03-08T16:50:37Z2018-092018-09-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/6111engEur J Med Genet. 2018 Sep;61(9):483-488. doi: 10.1016/j.ejmg.2018.05.010. Epub 2018 May 101769-721210.1016/j.ejmg.2018.05.010.info:eu-repo/semantics/embargoedAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:41:12Zoai:repositorio.insa.pt:10400.18/6111Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:40:45.015529Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – a EUROCAT study |
title |
Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – a EUROCAT study |
spellingShingle |
Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – a EUROCAT study Garne, Ester Associated Anomalies EUROCAT Maternal Age Population Based Prevalence Septo-optic Dysplasia Estados de Saúde e de Doença |
title_short |
Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – a EUROCAT study |
title_full |
Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – a EUROCAT study |
title_fullStr |
Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – a EUROCAT study |
title_full_unstemmed |
Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – a EUROCAT study |
title_sort |
Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – a EUROCAT study |
author |
Garne, Ester |
author_facet |
Garne, Ester Rissmann, Anke Addor, Marie-Claude Barisic, Ingeborg Bergman, Jorieke Braz, Paula Cavero-Carbonell, Clara Draper, Elisabeth Gatt, Miriam Haeusler, Martin Klungsoyr, Kari Kurinczuk, Jennifer Lelong, Nathalie Luyt, Karen Lynch, Babak O’Mahony, Mary Mokoroaq, Olatz Nelenr, Vera Nevilles, Amanda J. Pierinit, Anna Randrianaivou, Hanitra Rankinv, Judith Rougetw, Florence Schaubx, Bruno Tuckery, David Verellen-Dumoulinz, Christine Wellesleyaa, Diana Wieselab, Awi Zymak-Zakutniaac, Nataliia Lanzoniad, Monica, Morrisae, Joan K. |
author_role |
author |
author2 |
Rissmann, Anke Addor, Marie-Claude Barisic, Ingeborg Bergman, Jorieke Braz, Paula Cavero-Carbonell, Clara Draper, Elisabeth Gatt, Miriam Haeusler, Martin Klungsoyr, Kari Kurinczuk, Jennifer Lelong, Nathalie Luyt, Karen Lynch, Babak O’Mahony, Mary Mokoroaq, Olatz Nelenr, Vera Nevilles, Amanda J. Pierinit, Anna Randrianaivou, Hanitra Rankinv, Judith Rougetw, Florence Schaubx, Bruno Tuckery, David Verellen-Dumoulinz, Christine Wellesleyaa, Diana Wieselab, Awi Zymak-Zakutniaac, Nataliia Lanzoniad, Monica, Morrisae, Joan K. |
author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Instituto Nacional de Saúde |
dc.contributor.author.fl_str_mv |
Garne, Ester Rissmann, Anke Addor, Marie-Claude Barisic, Ingeborg Bergman, Jorieke Braz, Paula Cavero-Carbonell, Clara Draper, Elisabeth Gatt, Miriam Haeusler, Martin Klungsoyr, Kari Kurinczuk, Jennifer Lelong, Nathalie Luyt, Karen Lynch, Babak O’Mahony, Mary Mokoroaq, Olatz Nelenr, Vera Nevilles, Amanda J. Pierinit, Anna Randrianaivou, Hanitra Rankinv, Judith Rougetw, Florence Schaubx, Bruno Tuckery, David Verellen-Dumoulinz, Christine Wellesleyaa, Diana Wieselab, Awi Zymak-Zakutniaac, Nataliia Lanzoniad, Monica, Morrisae, Joan K. |
dc.subject.por.fl_str_mv |
Associated Anomalies EUROCAT Maternal Age Population Based Prevalence Septo-optic Dysplasia Estados de Saúde e de Doença |
topic |
Associated Anomalies EUROCAT Maternal Age Population Based Prevalence Septo-optic Dysplasia Estados de Saúde e de Doença |
description |
Septo-optic nerve dysplasia is a rare congenital anomaly with optic nerve hypoplasia, pituitary hormone deficiencies and midline developmental defects of the brain. The clinical findings are visual impairment, hypopituitarism and developmental delays. The aim of this study was to report prevalence, associated anomalies, maternal age and other epidemiological factors from a large European population based network of congenital anomaly registries (EUROCAT). Data from 29 full member registries for the years 2005-2014 were included, covering 6.4 million births. There were 99 cases with a diagnosis of septo-optic dysplasia. The prevalence of septo-optic dysplasia in Europe was calculated to lie between 1.9 and 2.5 per 100,000 births after adjusting for potential under-reporting in some registries. The prevalence was highest in babies of mothers aged 20-24 years of age and was significantly higher in UK registries compared with other EUROCAT registries (P = 0.021 in the multilevel model) and the additional risk for younger mothers was significantly greater in the UK compared to the rest of Europe (P = 0.027). The majority of septo-optic dysplasia cases were classified as an isolated cerebral anomaly (N = 76, 77%). Forty percent of diagnoses occurred in fetuses with a prenatal diagnosis. The anomaly may not be visible at birth, which is reflected in that 57% of the postnatal diagnoses occurred over 1 month after birth. This is the first population based study to describe the prevalence of septo-optic dysplasia in Europe. Septo-optic dysplasia shares epidemiological patterns with gastroschisis and this strengthens the hypothesis of vascular disruption being an aetiological factor for septo-optic dysplasia. |
publishDate |
2018 |
dc.date.none.fl_str_mv |
2018-09 2018-09-01T00:00:00Z 2019-03-08T16:50:37Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.18/6111 |
url |
http://hdl.handle.net/10400.18/6111 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Eur J Med Genet. 2018 Sep;61(9):483-488. doi: 10.1016/j.ejmg.2018.05.010. Epub 2018 May 10 1769-7212 10.1016/j.ejmg.2018.05.010. |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/embargoedAccess |
eu_rights_str_mv |
embargoedAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Elsevier |
publisher.none.fl_str_mv |
Elsevier |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
|
_version_ |
1799132149539930112 |