Genetic testing in children with autism spectrum disorders

Anadolu psikiyatri dergisi
Esra ÇöpKerim M Münir

Abstract

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. Ninety-six children with ASD were evaluated for genetic testing and factors associated with this testing. 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). 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.

Citations

Sep 29, 2018·Clinical Pediatrics·John W HarringtonSamantha Schrier Vergano
Aug 7, 2019·Sudanese Journal of Paediatrics·Hüseyin ÇaksenMevlit İkbal
Jan 2, 2021·Journal of Personalized Medicine·Rena J VanzoRichard G Boles
Oct 29, 2020·Revista paulista de pediatria : orgão oficial da Sociedade de Pediatria de São Paulo·Alan Tibério Dalpiaz IrigonhêMara Lúcia Schmitz Ferreira Santos

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