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Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – a EUROCAT study

2018-09Journal article Restricted access
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dc.contributor.authorGarne, Ester
dc.contributor.authorRissmann, Anke
dc.contributor.authorAddor, Marie-Claude
dc.contributor.authorBarisic, Ingeborg
dc.contributor.authorBergman, Jorieke
dc.contributor.authorBraz, Paula
dc.contributor.authorCavero-Carbonell, Clara
dc.contributor.authorDraper, Elisabeth
dc.contributor.authorGatt, Miriam
dc.contributor.authorHaeusler, Martin
dc.contributor.authorKlungsoyr, Kari
dc.contributor.authorKurinczuk, Jennifer
dc.contributor.authorLelong, Nathalie
dc.contributor.authorLuyt, Karen
dc.contributor.authorLynch, Babak
dc.contributor.authorO’Mahony, Mary
dc.contributor.authorMokoroaq, Olatz
dc.contributor.authorNelenr, Vera
dc.contributor.authorNevilles, Amanda J.
dc.contributor.authorPierinit, Anna
dc.contributor.authorRandrianaivou, Hanitra
dc.contributor.authorRankinv, Judith
dc.contributor.authorRougetw, Florence
dc.contributor.authorSchaubx, Bruno
dc.contributor.authorTuckery, David
dc.contributor.authorVerellen-Dumoulinz, Christine
dc.contributor.authorWellesleyaa, Diana
dc.contributor.authorWieselab, Awi
dc.contributor.authorZymak-Zakutniaac, Nataliia
dc.contributor.authorLanzoniad, Monica,
dc.contributor.authorMorrisae, Joan K.
dc.date.accessioned2019-03-08T16:50:37Z
dc.date.available2019-03-08T16:50:37Z
dc.date.issued2018-09
dc.description.abstractSepto-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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationEur J Med Genet. 2018 Sep;61(9):483-488. doi: 10.1016/j.ejmg.2018.05.010. Epub 2018 May 10pt_PT
dc.identifier.doi10.1016/j.ejmg.2018.05.010.pt_PT
dc.identifier.issn1769-7212
dc.identifier.urihttp://hdl.handle.net/10400.18/6111
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.relation.publisherversionhttps://www.sciencedirect.com/science/article/pii/S1769721218301496?via%3Dihubpt_PT
dc.subjectAssociated Anomaliespt_PT
dc.subjectEUROCATpt_PT
dc.subjectMaternal Agept_PT
dc.subjectPopulation Basedpt_PT
dc.subjectPrevalencept_PT
dc.subjectSepto-optic Dysplasiapt_PT
dc.subjectEstados de Saúde e de Doençapt_PT
dc.titleEpidemiology of septo-optic dysplasia with focus on prevalence and maternal age – a EUROCAT studypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage488pt_PT
oaire.citation.issue9pt_PT
oaire.citation.startPage483pt_PT
oaire.citation.titleEuropean Journal of Medical Geneticspt_PT
oaire.citation.volume61pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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