Genetic testing in children with autism spectrum disorders.

IF 0.6 Q3 Nursing

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

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引用次数: 9

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.

查看原文本刊更多论文

自闭症谱系障碍儿童的基因检测。

目的:本研究的目的是利用美国儿科学会发表的临床报告，探讨自闭症谱系障碍(ASD)儿童临床人群中的核型异常、MECP2突变和脆性X染色体。方法:对96例ASD患儿进行基因检测及相关因素评估。结果:染色体核型异常9.7%，脆性X染色体DNA异常1.4%。核型异常包括inv(9)(p12q13);发票(9)(p11q13);发票(Y) (p11q11);罗伯逊易位(13;14)(8q10q10)和(13,14)(q10q10);qh + 9;Yqh +;15 ps +;删除13 (p11.2)。结论:基因检测应该提供给所有有自闭症儿童的家庭，即使不是所有的家庭都会遵循这个建议。尽管核型和FRAXA评估将产生近10%的阳性结果，但详细的病史和体格检查仍然是ASD儿童病因学评估的最重要方面。此外，让遗传学家帮助解释从基因检测中获得的信息也很重要。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Anadolu Psikiyatri Dergisi-Anatolian Journal of Psychiatry PSYCHIATRY-

CiteScore

1.70

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： The aim of Anatolian Journal of Psychiatry (Anadolu Psikiyatri Dergisi) is to present on a scientific level and share the theoretical information and clinical experience in the field of behavioral sciences, primarily psychiatry, and create a forum. Anatolian Journal of Psychiatry aims to reach a national and international audience and will accept submissions from authors worldwide. It gives high priority to original studies of interest to clinicians and scientists in social psychiatry and related disciplines. Anatolian Journal of Psychiatry publishes high quality research targeted to specialists, residents and scientists in psychiatry, psychology, neurology, pharmacology, applied and basic neurosciences, genetics, physiology, psychiatric nursing, and related sciences.