Özgül öğrenme bozukluğu tanısı almış hastalarda foxp2 geninin yeni nesil dizi analizi yöntemiyle incelenmesi
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Dosyalar
Tarih
2020
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Düzce Üniversitesi
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Amaç: Özgül Öğrenme Bozukluğu (ÖÖB), okul çağındaki çocukların akademik ve sosyal alanda yaşadıkları güçlüklerin önemli bir sebebidir. ÖÖG etyolojisi henüz net olarak bilinmemekte ancak nörobiyolojik temelde gelişen genetik ve çevresel faktörlerin ve bunların birbirleri ile etkileşiminin etkili olduğu düşünülmektedir. Bu çalışmada, FOXP2 geninin ÖÖB etyolojisindeki rolünü araştırmak amaçlanmıştır. Gereç ve Yöntem: Çalışmamız kesitsel bir çalışma olarak gerçekleştirilmiştir. Araştırmada hasta grubu 52, kontrol grubu 46 çocuktan oluşmaktadır. DSM-5 kriterlerine göre yapılan görüşmelere ek olarak tüm çalışma grubuna Özgül Öğrenme Bozukluğu Test Bataryası ve Okul Çağı Çocukları İçin Duygulanım Bozuklukları ve Şizofreni Görüşme Çizelgesi - Şimdi ve Yaşam Boyu Versiyonu (ÇDŞG-ŞY) ile yarı yapılandırmış tanısal görüşme çizelgesi uygulanmıştır. Ayrıca tüm gruba Sosyodemografik Bilgi Formu, Anksiyete ve İlgili Bozukluklar İçin Tarama-Çocuklar İçin ve "Çocuk Depresyon Ölçeği" doldurtulmuştur. Hasta ve kontrol grubunda FOXP2 gen varyasyonu yeni nesil dizi analizi yöntemi ile araştırılmıştır. Bulgular: Hasta ve kontrol gruplarında FOXP2 geninde toplam 17 çeşit varyasyon saptanmıştır. Hasta grubunda 42 çocukta (%80,8) bulunan farklı 13 varyasyon bulunmuşken, kontrol grubunda 27 çocukta (%52,17) toplamda 4 farklı varyasyon bulunmuştur. FOXP2 geni ile ilişkili varyasyonların hasta grubunda anlamlı olarak daha yüksek olduğu görülmüştür. Sonuç: Çalışmamızda ÖÖB tanılı çocuklarda FOXP2 varyasyonunun daha sık görüldüğü saptanmıştır. Ancak ÖÖB'de bu konuda yeterli sayıda çalışma bulunmadığı için, hasta grubunda saptanan varyasyonların etyopatogenezdeki rolünün ne olduğunu kesin bir dille söylemek mümkün değildir. FOXP2 geniyle ilişkili varyasyonların ÖÖB'nin etyolojisindeki rolünün ve klinik parametrelerle ilişkisinin belirlenebilmesi için gelecekte daha fazla çalışmaya ihtiyaç duyulmaktadır.
Aim: Spesific Learning Disorder (SLD) is an important reason for the difficulties faced by school children in academic and social fields. The etiology of SLD is not yet known. However, genetic and environmental factors developing on a neurobiological basis, and their interaction with each other, are thought to be effective in etiology. In this study, it was aimed to investigate the role of FOXP2 gene in SLD etiology. Material and Method: Our study was carried out as a cross-sectional study. The patient group consisted of 52 children and control group included 46 children. In addition to the interviews conducted according to the DSM-5 criteria; Spesific Learning Disorder Test Battery and The Schedule for Affective Disorders and Schizophrenia (SADS) for School-Age Children – Present and Lifetime Version (SADS-PL) with semi-structured diagnostic interview schedule were applied to all study groups. In addition, Sociodemographic Information Form, Anxiety and Related Disorders Screening-For Children and "Child Depression Scale" were filled in for the whole group. The FOXP2 gene variation in the patient and control groups was investigated by the next generation sequence analysis method. Results: Seventeen (17) variations in the FOXP2 gene were detected in the patient and control groups. There were 13 different variations in 42 patients (80.8%) in the patient group, and 4 different variations were found in 27 children (52.17%) in the control group. The variations associated with the FOXP2 gene were found as significantly higher in the patient group. Conclusion: In our study, FOXP2 variation was more common in children with SLD. However, it is not possible to say with certainty what the role of variations detected in the patient group is in the etiopathogenesis, because there is not enough data in this context in patients with SLD. Further studies are needed to determine the role of FOXP2 gene-related variations and its relationship with clinical parameters in the etiology of SLD.
Aim: Spesific Learning Disorder (SLD) is an important reason for the difficulties faced by school children in academic and social fields. The etiology of SLD is not yet known. However, genetic and environmental factors developing on a neurobiological basis, and their interaction with each other, are thought to be effective in etiology. In this study, it was aimed to investigate the role of FOXP2 gene in SLD etiology. Material and Method: Our study was carried out as a cross-sectional study. The patient group consisted of 52 children and control group included 46 children. In addition to the interviews conducted according to the DSM-5 criteria; Spesific Learning Disorder Test Battery and The Schedule for Affective Disorders and Schizophrenia (SADS) for School-Age Children – Present and Lifetime Version (SADS-PL) with semi-structured diagnostic interview schedule were applied to all study groups. In addition, Sociodemographic Information Form, Anxiety and Related Disorders Screening-For Children and "Child Depression Scale" were filled in for the whole group. The FOXP2 gene variation in the patient and control groups was investigated by the next generation sequence analysis method. Results: Seventeen (17) variations in the FOXP2 gene were detected in the patient and control groups. There were 13 different variations in 42 patients (80.8%) in the patient group, and 4 different variations were found in 27 children (52.17%) in the control group. The variations associated with the FOXP2 gene were found as significantly higher in the patient group. Conclusion: In our study, FOXP2 variation was more common in children with SLD. However, it is not possible to say with certainty what the role of variations detected in the patient group is in the etiopathogenesis, because there is not enough data in this context in patients with SLD. Further studies are needed to determine the role of FOXP2 gene-related variations and its relationship with clinical parameters in the etiology of SLD.
Açıklama
YÖK Tez No: 634605
Anahtar Kelimeler
Psikiyatri, Psychiatry
