{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T09:52:31Z","timestamp":1777801951381,"version":"3.51.4"},"reference-count":6,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[1986,4,1]],"date-time":"1986-04-01T00:00:00Z","timestamp":512697600000},"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":[[1986,4]]},"abstract":"<jats:p>The results of studies of seven girls with Rett's syndrome and two additional cases suggestive of Rett's syndrome are presented. After normal neurological development up to the age of 7 to 20 months, there was a rapid regression of higher cortical function. Rett's syndrome was initially manifested by a delay of further motor development and the appearance of autistic traits. As the disease progressed, there was loss of ability to crawl, loss of purposeful hand movements, abnormal respirations, truncal ataxia, seizures, and spastic increase in muscle tone. Blood chemistries, including ammonia levels, were normal. Metabolic interference, a recently hypothesized form of inheritance, may occur in this syndrome. (J Child Neurol 1986;1:137-141)<\/jats:p>","DOI":"10.1177\/088307388600100208","type":"journal-article","created":{"date-parts":[[2008,6,3]],"date-time":"2008-06-03T05:13:24Z","timestamp":1212470004000},"page":"137-141","source":"Crossref","is-referenced-by-count":12,"title":["Rett's Syndrome: Progression of Symptoms From Infancy to Childhood"],"prefix":"10.1177","volume":"1","author":[{"given":"Hisaharu","family":"Suzuki","sequence":"first","affiliation":[{"name":"Department of Child Neurology, National Musashi Research Institute for Mental and Nervous Disorders, Kodaira City, Tokyo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuo","family":"Matsuzaka","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, National Musashi Research Institute for Mental and Nervous Disorders, Kodaira City, Tokyo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshito","family":"Hirayama","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, National Musashi Research Institute for Mental and Nervous Disorders, Kodaira City, Tokyo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norio","family":"Sakuragawa","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, National Musashi Research Institute for Mental and Nervous Disorders, Kodaira City, Tokyo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masataka","family":"Arima","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, National Musashi Research Institute for Mental and Nervous Disorders, Kodaira City, Tokyo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akihiko","family":"Tateno","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Ohashi Hospital, Toho University School of Medicine, Tokyo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Megumu","family":"T\u014dj\u014d","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Niigata University School of Medicine, Niigata, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasuyuki","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tokyo Rehabilitation Hospital, Musashi-Murayama, Tokyo"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[1986,4,1]]},"reference":[{"key":"atypb1","volume-title":"\u00dcber ein Zerebral-atrophisches Syndrom bei Hyperammon\u00e4mie","author":"Rett A.","year":"1966"},{"key":"atypb2","unstructured":"Rett A.: Cerebral atrophy associated with hyperammonaemia, in Vinken PJ, Bruyn GW, Klawans HL (eds): Metabolic and Deficiency Diseases of the Nervous System, Part III. Handbook of Clinical Neurology. Amsterdam, North-Holland Publishing Co, 1977, vol 29, pp 305-329."},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410140412"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(84)80030-3"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1985.tb10993.x"},{"key":"atypb6","first-page":"374","volume":"32","author":"Johnson WG","year":"1980","journal-title":"Am J Hum Genet"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/088307388600100208","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/088307388600100208","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:31:34Z","timestamp":1777494694000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/088307388600100208"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,4]]},"references-count":6,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1986,4]]}},"alternative-id":["10.1177\/088307388600100208"],"URL":"https:\/\/doi.org\/10.1177\/088307388600100208","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,4]]}}}