{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T09:59:10Z","timestamp":1777802350297,"version":"3.51.4"},"reference-count":16,"publisher":"SAGE Publications","issue":"9","license":[{"start":{"date-parts":[[2005,9,1]],"date-time":"2005-09-01T00:00:00Z","timestamp":1125532800000},"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":[[2005,9]]},"abstract":"<jats:p>Rett syndrome is a neurodevelopmental disorder that primarily affects girls, most of whom have mutations in the transcription regulatory gene MECP2. However, mutations in MECP2 also have been identified in normal carrier female individuals, female individuals with mild learning disabilities and features of Angelman syndrome, and male individuals with Klinefelter syndrome or Rett syndrome\u2014like features, fatal neonatal encephalopathy, and familial X-linked mental retardation with or without motor abnormalities. Therefore, molecular testing should be considered for a wide spectrum of individuals. As such, Rett syndrome remains a clinical diagnosis. In this article, we also discuss three recent developments: (1) the recognition of significant gallbladder dysfunction, especially in those 20 years of age or younger; (2) a clinical trial of folate and betaine, which produced no objective improvement but did yield a subjective increase in attention and interaction; and (3) measurement of cerebrospinal fluid folate levels in a large cohort, which yielded normal values, indicating no need for supplementation. ( J Child Neurol 2005;20:718\u2014721).<\/jats:p>","DOI":"10.1177\/08830738050200090301","type":"journal-article","created":{"date-parts":[[2007,6,21]],"date-time":"2007-06-21T22:00:05Z","timestamp":1182463205000},"page":"718-721","source":"Crossref","is-referenced-by-count":53,"title":["Rett Syndrome: Model of Neurodevelopmental Disorders"],"prefix":"10.1177","volume":"20","author":[{"given":"Alan K.","family":"Percy","sequence":"first","affiliation":[{"name":"Civitan International Research Center, University of Alabama at Birmingham, Birmingham, AL, ."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jane B.","family":"Lane","sequence":"additional","affiliation":[{"name":"Civitan International Research Center, University of Alabama at Birmingham, Birmingham, AL"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2005,9,1]]},"reference":[{"key":"atypb1","first-page":"723","volume":"116","author":"Rett A.","year":"1966","journal-title":"Wien Med Wochenschr"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410140412"},{"key":"atypb3","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1016\/S0387-7604(85)80032-2","volume":"7","author":"Percy AK","year":"1985","journal-title":"Brain Dev"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1016\/S0013-4694(97)00084-9"},{"key":"atypb5","first-page":"207","volume":"4","author":"Percy AK","year":"1998","journal-title":"Riv Med"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1038\/13810"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(85)80048-6"},{"key":"atypb8","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410230432"},{"key":"atypb9","volume-title":"Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting","author":"Hagberg B."},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(94)90082-5"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1016\/B0-12-226870-9\/00116-7"},{"key":"atypb12","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199708000-00001"},{"key":"atypb13","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10242"},{"key":"atypb14","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20004"},{"key":"atypb15","doi-asserted-by":"publisher","DOI":"10.1038\/ng1327"},{"key":"atypb16","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000078939.64774.1B"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738050200090301","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738050200090301","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:32:33Z","timestamp":1777494753000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738050200090301"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,9]]},"references-count":16,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2005,9]]}},"alternative-id":["10.1177\/08830738050200090301"],"URL":"https:\/\/doi.org\/10.1177\/08830738050200090301","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,9]]}}}