Anadolu Psikiyatri Dergisi-Anatolian Journal of Psychiatry最新文献

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Genetic testing in children with autism spectrum disorders. 自闭症谱系障碍儿童的基因检测。

IF 0.6

Anadolu Psikiyatri Dergisi-Anatolian Journal of Psychiatry Pub Date : 2015-01-01 DOI: 10.5455/apd.1414607917

Esra Çöp, Pinar Yurtbaşi, Özgür Öner, Kerim M Münir

{"title":"Genetic testing in children with autism spectrum disorders.","authors":"Esra Çöp, Pinar Yurtbaşi, Özgür Öner, Kerim M Münir","doi":"10.5455/apd.1414607917","DOIUrl":"https://doi.org/10.5455/apd.1414607917","url":null,"abstract":"Objective: The aim of this study was to investigate karyotype abnormalities, MECP2 mutations, and Fragile X in a clinical population of children with Autism Spectrum Disorders (ASD) using The Clinical Report published by the American Academy of Pediatrics.Methods: Ninety-six children with ASD were evaluated for genetic testing and factors associated with this testing.Results: Abnormalities were found on karyotype in 9.7% and in DNA for fragile X in 1.4%. Karyotype abnormalities include inv(9)(p12q13); inv(9)(p11q13); inv(Y)(p11q11); Robertsonian translocation (13;14)(8q10q10) and (13,14)(q10q10); 9qh+; Yqh+; 15ps+; deletion 13(p11.2).Conclusion: Genetic testing should be offered to all families of a child with an ASD, even not all of them would follow this recommendation. Although karyotype and FRAXA assessment will yield almost 10% positive results, a detailed history and physical examination are still the most important aspect of the etiological evaluation for children with ASD. Also, it is important to have geneticists to help in interpreting the information obtained from genetic testing.","PeriodicalId":50797,"journal":{"name":"Anadolu Psikiyatri Dergisi-Anatolian Journal of Psychiatry","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.5455/apd.1414607917","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33982992","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 9

Repetitive transcranial magnetic stimulation 重复经颅磁刺激

IF 0.6

Anadolu Psikiyatri Dergisi-Anatolian Journal of Psychiatry Pub Date : 2014-01-01 DOI: 10.1007/978-3-642-28753-4_201911

O. Durmaz

引用次数: 0