{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T11:08:23Z","timestamp":1792062503697,"version":"4.4.0"},"reference-count":9,"publisher":"BMJ","issue":"6495","license":[{"start":{"date-parts":[[1985,8,31]],"date-time":"1985-08-31T00:00:00Z","timestamp":494294400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.bmj.com\/company\/legal-information\/terms-conditions\/legal-information\/tdm-licencepolicy"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Br Med J (Clin Res Ed)"],"published-print":{"date-parts":[[1985,8,31]]},"abstract":"<jats:p>Nineteen girls with characteristic features of Rett's syndrome, including normal initial development, regression at about 12 months of age, repetitive hand movements, and severe mental handicap were studied. This represents an estimated incidence of one in 30 000 live births (one in 15 000 girls) in the west of Scotland. Although the children were often initially considered to be autistic, they did not conform to this diagnosis as they made good personal contact within the limits of their mental development. The developmental regression was sometimes falsely attributed to vaccination. Each child showed striking involuntary movements and abnormality of tone, varying from hypotonia, which was found only in the youngest, to rigidity, which was common in older girls; this permitted classification into three clinical subtypes. The abnormalities were highly suggestive of an extrapyramidal disorder, and this has implications for further research and possible treatment.<\/jats:p>","DOI":"10.1136\/bmj.291.6495.579","type":"journal-article","created":{"date-parts":[[2009,4,2]],"date-time":"2009-04-02T11:00:59Z","timestamp":1238670059000},"page":"579-582","source":"Crossref","is-referenced-by-count":108,"title":["Rett's syndrome in the west of Scotland."],"prefix":"10.1136","volume":"291","author":[{"given":"A M","family":"Kerr","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J B","family":"Stephenson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1985,8,31]]},"reference":[{"key":"ref_1","first-page":"723","article-title":"Uber ein eigenartiges Hirnatrophisches Syndrom bei Hyperammonamie im Kindersalter","volume":"116","author":"A, I.Rett","year":"1966","unstructured":"I Rett A. Uber ein eigenartiges Hirnatrophisches Syndrom bei Hyperammonamie im Kindersalter. WtI'en Med Wochenschr 1966;116:723-6.","journal-title":"WtI'en Med Wochenschr"},{"key":"ref_2","first-page":"\"305","article-title":"Cerebral atrophy associated with hyperammonaemta","volume":"3","author":"Rett, A.","year":"1977","unstructured":"Rett A. Cerebral atrophy associated with hyperammonaemta. Amsterdani: North-Holland, 1977: 305-29. (Handbook of clinical neurology No 29.) 3 Hagberg B, Aicardi J, Dias K, Ramos 0. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann Neurol 1983;14: 471-9.","journal-title":"Ann Neurol; Handbook of clinical neurology No"},{"key":"ref_3","first-page":"211","article-title":"Infantile behavioural regression and respiratory impairment","volume":"15","author":"Lugaresi, E.; Cirignotta, F.; Rossi, P.G.; Santucci, M.; Montagna, P.","year":"1984","unstructured":"Lugaresi E, Cirignotta F, Rossi PG, Santucci M, Montagna P. Infantile behavioural regression and respiratory impairment. Aeuropedtatrics 1984;15:211-4.","journal-title":"Aeuropedtatrics"},{"key":"ref_4","first-page":"475","article-title":"Rett syndrome-clinical studies and pathophysiological consideration","volume":"6","author":"Nomura, Y.; Segawa, M.; Hasegawa, M.","year":"1984","unstructured":"Nomura Y, Segawa M, Hasegawa M. Rett syndrome-clinical studies and pathophysiological consideration. 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New York, London: Hafter Publishing Co, 1969."}],"container-title":["BMJ"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/data.bmj.org\/tdm\/10.1136\/bmj.291.6495.579","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bmj.291.6495.579","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,11]],"date-time":"2025-12-11T18:21:13Z","timestamp":1765477273000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.bmj.com\/lookup\/doi\/10.1136\/bmj.291.6495.579"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,8,31]]},"references-count":9,"journal-issue":{"issue":"6495","published-online":{"date-parts":[[1985,8,31]]},"published-print":{"date-parts":[[1985,8,31]]}},"alternative-id":["10.1136\/bmj.291.6495.579"],"URL":"https:\/\/doi.org\/10.1136\/bmj.291.6495.579","relation":{},"ISSN":["0267-0623","1468-5833"],"issn-type":[{"value":"0267-0623","type":"print"},{"value":"1468-5833","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,8,31]]}}}