{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T12:14:44Z","timestamp":1790424884049,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,1,2]],"date-time":"2002-01-02T00:00:00Z","timestamp":1009929600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,3,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>An adult female with congenital Rubinstein\u2010Taybi syndrome (RTS) and severe mental retardation is described, who presented with symptoms of severe over\u2010activity, short attention span, mood lability, and aggressive outbursts in a cyclical pattern, suggestive of recurrent manic\u2010like episodes. These symptoms improved significantly with divalproex (Depakote) monotherapy. Review of the existing studies showed that 10\u201376% of persons with RTS may be identified with similar behavioral symptoms. We postulate other persons with RTS may respond to divalproex, and there may be some relationship between the chromosome 16p13.3 deletion and <jats:italic>\u03b3<\/jats:italic>\u2010aminobutyric acid (GABA) receptor or neurotransmitter abnormalities. Recent molecular genetic studies suggest a linkage of this region to bipolar mood disorder and autism, both of which were diagnosed in this patient. Further prospective study is needed of RTS persons regarding behavioral problems, comorbid psychiatric diagnoses, and treatment responses, correlated with genetic abnormalities. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10156","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T04:51:41Z","timestamp":1030251101000},"page":"190-195","source":"Crossref","is-referenced-by-count":27,"title":["Psychopathology, GABA, and the Rubinstein\u2010Taybi syndrome: A review and case study"],"prefix":"10.1002","volume":"114","author":[{"given":"Jessica A.","family":"Hellings","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaheena","family":"Hossain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judy K.","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramil R.","family":"Baratang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,10,23]]},"reference":[{"key":"e_1_2_6_2_1","volume-title":"Diagnostic and Statistical Manual of Mental Disorders","author":"American Psychiatric Association","year":"1994"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000134062"},{"key":"e_1_2_6_4_1","first-page":"351","article-title":"Brachydactyly, peculiar facies and mental retardation","volume":"108","author":"Coffin GS","year":"1964","journal-title":"Am Dis Child"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.4.339"},{"key":"e_1_2_6_6_1","first-page":"413","article-title":"Behavioral characteristics of three children with the broad thumb\u2010hallux (Rubinstein\u2010Taybi) syndrome","volume":"12","author":"Gotts EE","year":"1977","journal-title":"Biol Psychiatry"},{"key":"e_1_2_6_7_1","volume-title":"Neurodevelopmental disorders: diagnosis and treatment","author":"Hagerman RJ","year":"1999"},{"key":"e_1_2_6_8_1","first-page":"141","volume-title":"Genetic issues in pediatric and obstetric practice","author":"Hall BD","year":"1981"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2779(1999)5:4<270::AID-MRDD4>3.0.CO;2-I"},{"key":"e_1_2_6_10_1","first-page":"333","article-title":"Sertraline response in adults with mental retardation and autistic disorder","volume":"57","author":"Hellings JA","year":"1996","journal-title":"J Clin Psychol"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370604"},{"key":"e_1_2_6_12_1","first-page":"645","article-title":"Psychological and speech studies in Rubinstein\u2010Taybi syndrome","volume":"96","author":"Hennekam RCM","year":"1992","journal-title":"Am J Ment Retard"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380430"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2788.1998.00136.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530409"},{"issue":"2","key":"e_1_2_6_16_1","first-page":"25","article-title":"The Broad Thumbs syndrome\u2014progress report 1968","volume":"5","author":"Rubinstein JH","year":"1969","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370603"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1963.02080040590010"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370605"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10156","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10156","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T15:35:20Z","timestamp":1696952120000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10156"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,3,8]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2002,3,8]]}},"alternative-id":["10.1002\/ajmg.10156"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10156","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,3,8]]}}}