Genetic testing in children with autism spectrum disorders
Amaç: Bu çalışmanın amacı Amerikan Pediatri Akademisinin yayınladığı klinik rapora göre, kliniğe başvuran ve otizm spektrum bozukluğu (OSB) olan çocuklarda karyotip anormalllikleri, MECP2 mutasyonları ve Frajil X araştırılması amaçlanmıştır. Yöntem: OSB olan 96 çocukta genetik testler ve ilişkili etkenlere bakılmıştır. Sonuçlar: OSBlilerin %9.7sinde karyotip anormallikleri, %1.4ünde Frajil X sendromu saptanmıştır. Karyotip anormallikleri inv(9) (p12q13), inv(9)(p11q13), inv(Y)(p11q11); Robertsonian translokasyonu (13;14)(8q10q10) ve (13,14)(q10q10); 9qh+; Yqh+; 15ps+; 13(p11.2) delesyonudur. Tartışma: OSB olan çocukları olan ailelerin tümüne, bir kısmı bunu uygulamayacak olsa bile genetik inceleme önerilmelidir. Karyotip ve FRAXA incelemesi yaklaşık %10 pozitif sonuç verse bile ayrıntılı bir öykü ve fizik muayene OSB olan çocuklarda etiyolojik araştırmanın halen en önemli bileşenidir. Ayrıca genetik inceleme sonucu elde edilen bilginin yorumlanmasında genetik uzmanlarından yardım almak önemlidir
Otizm spektrum bozukluğu olan çocuklarda genetik inceleme
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. (Anatolian Journal of Psychiatry 2015; 16(6):426-432)
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