{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T10:34:41Z","timestamp":1778582081825,"version":"3.51.4"},"reference-count":44,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,1,25]],"date-time":"2019-01-25T00:00:00Z","timestamp":1548374400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"NIH","award":["R01HD078561"],"award-info":[{"award-number":["R01HD078561"]}]},{"name":"NIH","award":["R21MH118739"],"award-info":[{"award-number":["R21MH118739"]}]},{"name":"NIH","award":["R03NS101372"],"award-info":[{"award-number":["R03NS101372"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2019,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rett syndrome (RTT) is a rare congenital disorder which in most cases (95%) is caused by methyl\u2010CpG binding protein 2 (<jats:italic>MECP2<\/jats:italic>) mutations. RTT is characterized by regression in global development, epilepsy, autistic features, acquired microcephaly, habitual hand clapping, loss of purposeful hand skills, and autonomic dysfunctions. Although the literature has demonstrated decreased volumes of the cerebrum, cerebellum, and the caudate nucleus in RTT patients, surface\u2010based brain morphology including cortical thickness and cortical gyrification analyses are lacking in RTT. We present quantitative surface\u2010 and voxel\u2010based morphological measurements in young children with RTT and Rett\u2010like syndrome (RTT\u2010l) with <jats:italic>MECP2<\/jats:italic> mutations. The 8 structural T1\u2010weighted MR images were obtained from 7 female patients with <jats:italic>MECP2<\/jats:italic> mutations (3 classic RTT, 2 variant RTT, and 2 RTT\u2010l) (mean age 5.2 [standard deviation 3.3] years old). Our analyses demonstrated decreased total volumes of the cerebellum in RTT\/RTT\u2010l compared to gender\u2010 and age\u2010matched controls (t (22)=\u20102.93, <jats:italic>p<\/jats:italic>\u2009=\u2009.008, Cohen's <jats:italic>d<\/jats:italic>\u2009=\u20091.27). In contrast, global cerebral cortical surface areas, global\/regional cortical thicknesses, the degree of global gyrification, and global\/regional gray and white matter volumes were not statistically significantly different between the two groups. Our findings, as well as literature findings, suggest that early brain abnormalities associated with RTT\/RTT\u2010l (with <jats:italic>MECP2<\/jats:italic> mutations) can be detected as regionally decreased cerebellar volumes. Decreased cerebellar volume may be helpful for understanding the etiology of RTT\/RTT\u2010l.<\/jats:p>","DOI":"10.1016\/j.ijdevneu.2019.01.005","type":"journal-article","created":{"date-parts":[[2019,1,27]],"date-time":"2019-01-27T05:54:41Z","timestamp":1548568481000},"page":"83-88","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Surface\u2010 and voxel\u2010based brain morphologic study in Rett and Rett\u2010like syndrome with <i>MECP2<\/i> mutation"],"prefix":"10.1002","volume":"73","author":[{"given":"Tadashi","family":"Shiohama","sequence":"first","affiliation":[{"name":"Division of Newborn Medicine, Department of Medicine Boston Children's Hospital, Harvard Medical School 300 Longwood Avenue Boston MA 02115 USA"},{"name":"Department of Pediatrics Chiba University Hospital Inohana 1\u20108\u20101, Chiba\u2010shi Chiba 2608670 Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacob","family":"Levman","sequence":"additional","affiliation":[{"name":"Division of Newborn Medicine, Department of Medicine Boston Children's Hospital, Harvard Medical School 300 Longwood Avenue Boston MA 02115 USA"},{"name":"Department of Mathematics, Statistics and Computer Science St. Francis Xavier University 2323 Notre Dame Ave Antigonish Nova Scotia B2G 2W5 Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emi","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Division of Newborn Medicine, Department of Medicine Boston Children's Hospital, Harvard Medical School 300 Longwood Avenue Boston MA 02115 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,1,25]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1186\/s13229-017-0138-8","article-title":"Neuroanatomy in mouse models of Rett syndrome is related to the severity of Mecp2 mutation and behavioral phenotypes","volume":"8","author":"Allemang\u2010Grand R.","year":"2017","journal-title":"Mol. 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