{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T19:47:55Z","timestamp":1780602475963,"version":"3.54.1"},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,9,23]],"date-time":"2021-09-23T00:00:00Z","timestamp":1632355200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Paediatrics Child Health"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>To describe clinical characteristics, outcomes and causes of microcephaly in children whose condition was identified within the first year of life.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Retrospective review of medical records of microcephalic children born between 2008 and 2018 and admitted for any reason during the same period to a tertiary paediatric hospital. Microcephaly was defined as occipitofrontal circumference (OFC) more than two standard deviations below the mean (&gt;\u22122\u2009SD).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Between January 2008 and September 2018, 1083 medical records were retrieved. Of the children, 886 were ineligible and 197 were confirmed cases of microcephaly. Of cases, 73 (37%) had primary microcephaly (at birth) and 72 (37%) had severe microcephaly (OFC\u2009&gt;\u2009\u22123\u2009SD). Of microcephalic children, 192 (98%) had congenital anomalies, of whom 93% had major anomalies, mostly cardiovascular or musculoskeletal. Neurological signs or symptoms were reported in 148 (75%), seizures being the most common. Of the 139 children with abnormal central nervous system (CNS) imaging, one or more structural brain abnormalities were identified in 124 (89%). Failure to reach developmental milestones was observed in 69%, visual impairment in 41% and cerebral palsy in 13%. Microcephaly was idiopathic in 51% and 24% had diagnosed genetic disorders. There was no association between developmental outcomes or structural brain anomalies and severity of microcephaly or timing of diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our results suggest the need for a systematic investigative approach to diagnosis, including a careful history, examination, genetic testing and neuroimaging, to determine the underlying cause of microcephaly, identify co\u2010morbidities, predict prognosis and guide genetic counselling and therapy.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jpc.15739","type":"journal-article","created":{"date-parts":[[2021,9,23]],"date-time":"2021-09-23T11:23:56Z","timestamp":1632396236000},"page":"448-458","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Microcephaly in Australian infants: A retrospective audit"],"prefix":"10.1111","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5417-9582","authenticated-orcid":false,"given":"Carlos","family":"Nunez","sequence":"first","affiliation":[{"name":"Faculty of Medicine and Health, Discipline of Child and Adolescent Health The University of Sydney  Sydney New South Wales Australia"},{"name":"The Australian Paediatric Surveillance Unit  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0419-0529","authenticated-orcid":false,"given":"Anne","family":"Morris","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health, Discipline of Child and Adolescent Health The University of Sydney  Sydney New South Wales Australia"},{"name":"The Australian Paediatric Surveillance Unit  Sydney New South Wales Australia"},{"name":"The Kid's Institute Sydney Children's Hospitals Network  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6817-2031","authenticated-orcid":false,"given":"Michele","family":"Hansen","sequence":"additional","affiliation":[{"name":"Telethon Kids Institute The University of Western Australia  Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth J","family":"Elliott","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health, Discipline of Child and Adolescent Health The University of Sydney  Sydney New South Wales Australia"},{"name":"The Australian Paediatric Surveillance Unit  Sydney New South Wales Australia"},{"name":"The Kid's Institute Sydney Children's Hospitals Network  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,9,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181b783f7"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1128\/CMR.00014-16"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.5694\/mja16.00966"},{"key":"e_1_2_7_5_1","unstructured":"Centers for Disease Control and Prevention.Birth Defects. 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