ALPHA PSYCHIATRY
Original Articles

Genetic testing in children with autism spectrum disorders

1.

Department of Child and Adolescent Psychiatry, Yenimahalle Training and Research Hospital, Ankara, Turkey

2.

Department of Child and Adolescent Psychiatry, Turgut Ozal University Faculty of Medicine, Ankara, Turkey,

3.

Department of Child and Adolescent Psychiatry, Ankara University Faculty of Medicine, Ankara, Turkey

4.

Children’s Hospital, Boston

Alpha Psychiatry 2015; 16: 426-432
DOI: 10.5455/apd.1414607917
Keywords : autism, genetics, child
Read: 1150 Downloads: 426 Published: 01 December 2015

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 translo-cation (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. [Anadolu Psikiyatri Derg 2015; 16(6.000): 426-432]

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