{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T22:55:55Z","timestamp":1789512955904,"version":"build-2803163510"},"reference-count":35,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2007,2,1]],"date-time":"2007-02-01T00:00:00Z","timestamp":1170288000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2007,2]]},"abstract":"<jats:p>Aicardi syndrome is a rare neurodevelopmental disorder characterized by agenesis of the corpus callosum, other developmental brain abnormalities, chorioretinal lacunae, and severe seizures. Current clinical knowledge is derived from small series that focus on these major defects. The authors performed a health survey on a large number of affected children to expand this knowledge and to uncover previously unrecognized features of Aicardi syndrome. Responses received from caregivers of 69 children with Aicardi syndrome met inclusion criteria for data analysis. Ages ranged from 5 months to 32 years (mean, 88 months). All subjects were girls, except for 1 boy with a 47,XXY karyotype. The authors found that the growth rate in Aicardi syndrome slows at age 10 years to below the 5th percentile and that weight gain slows at age 7 years to below the 25th percentile. The median age of survival was estimated at 18.5 (\u00b14) years, more favorable than previously reported. The most common complication aside from seizures was gastrointestinal dysfunction, present in &gt;90%. The results from this survey contribute new information on Aicardi syndrome that will benefit clinical management, and collected data will benefit phenotype-driven research toward its underlying cause.<\/jats:p>","DOI":"10.1177\/0883073807300298","type":"journal-article","created":{"date-parts":[[2007,5,7]],"date-time":"2007-05-07T12:29:28Z","timestamp":1178540968000},"page":"176-184","source":"Crossref","is-referenced-by-count":41,"title":["Phenotype and Management of Aicardi Syndrome: New Findings from a Survey of 69 Children"],"prefix":"10.1177","volume":"22","author":[{"given":"Margaret A. K.","family":"Glasmacher","sequence":"first","affiliation":[{"name":"Aicardi Syndrome Newsletter, Louisville, Kentucky"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V. Reid","family":"Sutton","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, Department of Pediatrics, Baylor College of Medicine, Houston, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bobbi","family":"Hopkins","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Baylor College of Medicine, Houston, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Eble","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A.","family":"Lewis","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, Department of Ophthalmology, Baylor College of Medicine, Houston, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise","family":"Park Parsons","sequence":"additional","affiliation":[{"name":"Aicardi Syndrome Newsletter, Louisville, Kentucky"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignatia B.","family":"Van den Veyver","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, , Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2007,2,1]]},"reference":[{"key":"atypb1","first-page":"609","volume":"19","author":"Aicardi J.","year":"1965","journal-title":"Electroencephalogr Clin Neurophysiol."},{"key":"atypb2","first-page":"1103","volume":"26","author":"Aicardi J.","year":"1969","journal-title":"Arch Fr Pediatr."},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320405"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1159\/000055956"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1977.00500210065012"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1993.tb00439.x"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(94)90008-6"},{"key":"atypb8","first-page":"5","volume":"14","author":"Aicardi J.","year":"1999","journal-title":"Int Pediatr"},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30963"},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.78.6.494"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200410000-00012"},{"key":"atypb12","first-page":"457","volume":"82","author":"King AM","year":"1998","journal-title":"Br J Ophthalmol."},{"key":"atypb13","doi-asserted-by":"publisher","DOI":"10.1159\/000071606"},{"key":"atypb14","first-page":"278","volume":"15","author":"Hopkins IJ","year":"1979","journal-title":"Aust Paediatr J."},{"key":"atypb15","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80830-4"},{"key":"atypb16","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80460-4"},{"key":"atypb17","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80461-6"},{"key":"atypb18","first-page":"542","volume":"37","author":"Aggarwal KC","year":"2000","journal-title":"Indian Pediatr."},{"key":"atypb19","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(89)80085-X"},{"key":"atypb20","first-page":"1","volume":"52","author":"Martin JA","year":"2003","journal-title":"Natl Vital Stat Rep."},{"key":"atypb21","unstructured":"Simpson JL, Elias S, eds. Genetics of pregnancy loss. In: Genetics in Obstetrics and Gynecology. 3rd ed. Philadelphia, Pa: Saunders; 2003:101-132."},{"key":"atypb22","unstructured":"Chevrie JJ, Aicardi J. The Aicardi syndrome. In: Pedley TA , Meldrum BS, eds. Recent Advances in Epilepsy. Edinburgh, UK: Churchill Livingstone ; 1986:189-210."},{"key":"atypb23","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050534"},{"key":"atypb24","doi-asserted-by":"publisher","DOI":"10.1038\/13810"},{"key":"atypb25","first-page":"278","volume":"50","author":"Ellison KA","year":"1992","journal-title":"Am J Hum Genet."},{"key":"atypb26","doi-asserted-by":"publisher","DOI":"10.1086\/301932"},{"key":"atypb27","doi-asserted-by":"publisher","DOI":"10.1086\/302105"},{"key":"atypb28","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2003.11.011"},{"key":"atypb29","doi-asserted-by":"publisher","DOI":"10.1177\/1073858403260995"},{"key":"atypb30","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10310"},{"key":"atypb31","doi-asserted-by":"publisher","DOI":"10.1136\/adc.87.2.97"},{"key":"atypb32","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10312"},{"key":"atypb33","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000911)94:2<153::AID-AJMG8>3.0.CO;2-#"},{"key":"atypb34","doi-asserted-by":"publisher","DOI":"10.1111\/jon199664214"},{"key":"atypb35","doi-asserted-by":"crossref","first-page":"10","DOI":"10.3928\/0191-3913-19790101-04","volume":"16","author":"Denslow GT","year":"1979","journal-title":"J Pediatr Ophthalmol Strabismus"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073807300298","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073807300298","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:33:37Z","timestamp":1777494817000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073807300298"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,2]]},"references-count":35,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2007,2]]}},"alternative-id":["10.1177\/0883073807300298"],"URL":"https:\/\/doi.org\/10.1177\/0883073807300298","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,2]]}}}