{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T13:15:21Z","timestamp":1762175721140},"reference-count":45,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,9,7]],"date-time":"2004-09-07T00:00:00Z","timestamp":1094515200000},"content-version":"vor","delay-in-days":129,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ment. Retard. Dev. Disabil. Res. Rev."],"published-print":{"date-parts":[[2004,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rett syndrome (RTT) is a neurodevelopmental disorder occurring almost exclusively in females. Regression is a defining feature of RTT. During the regression stage, RTT girls display many autistic features, such as loss of communication and social skills, poor eye contact, and lack of interest, and initially may be given the diagnosis of autism. The discovery of the genetic cause of RTT, mutations in the MECP2 gene, a transcriptional repressor, has promoted the early diagnosis of RTT and development of mouse models. The phenotype of one mouse model includes features such as regression and abnormal behavioral and social interactions. The timing of the period of regression in RTT\u2014during ages 1 to 2 years\u2014parallels the period of intense synaptic development. The effects of the MECP2 mutation also increases concomitantly with peak synaptogenesis. Neuropathological findings in Rett include the selective reduction of dendritric spines in the pyramidal cells of RTT brains; this feature has also been reported in autism. Studies have observed that MECP influences the expression of brain\u2010derived neurotrophic factor and thus may influence synaptic plasticity. Abnormalities in synapse maintenance and modulation may contribute to regression in RTT and autism. Studies of the clinical aspects of the regression period and of the mouse model may be useful in understanding the pathophysiology of RTT and other neurodevelopmental disorders such as autism. A recent study observed abnormal expression of MeCP2 in RTT and other neurodevelopmental disorders such as autism. Although the genetic background and certain clinical features differ in RTT and autism, a similar mechanism involving MeCP2 regulation and expression may contribute to regression. MRDD Research Reviews 2004;10:154\u2013158. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/mrdd.20030","type":"journal-article","created":{"date-parts":[[2004,9,14]],"date-time":"2004-09-14T08:22:45Z","timestamp":1095150165000},"page":"154-158","source":"Crossref","is-referenced-by-count":38,"title":["Rett syndrome: Of girls and mice\u2014Lessons for regression in autism"],"prefix":"10.1002","volume":"10","author":[{"given":"Daniel G.","family":"Glaze","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,9,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1006\/nbdi.2001.0420"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/13810"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199503000-00006"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199708000-00001"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004010050582"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.45.8.1581"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0786-3"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(02)00624-0"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(02)00058-X"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1086446"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1044-7431(03)00026-5"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1987.00520220051016"},{"key":"e_1_2_1_14_1","first-page":"3","article-title":"Rett syndrome: Meeting the challenge of this gender\u2010specific neurodevelopmental disorder","volume":"2","author":"Glaze DG","year":"1997","journal-title":"Medscape Womens Health"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0013-4694(97)00084-9"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/mrdd.10024"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410140412"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(85)80028-0"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250506"},{"key":"e_1_2_1_20_1","first-page":"0611.1","article-title":"An update on clinically applicable diagnostic criteria in Rett syndrome. 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