Noonan Sendromu Dil Özellikleri: Olgu Sunumu Dilek Eroğlu Uzun

Giriş: Noonan sendromu (NS) multipl konjenital anomali sendromudur. NS, Ras/mitojenle-etkileşen protein kinaz genlerinden birindeki yanlış anlam mutasyonu sonucu oluşan bir tek gen hastalığıdır. PTPN11 geni, SOS1 geni, RAF1 geni, BRAF geni mutasyonları NS fenotipine yol açabilir. Bu çalışmanın amacı çok az rastlanan bir sendrom olan ve Türkçe konuşan NS’li bir vakada daha önce dil özellikleri araştırılmamış olan RAF1 mutasyonunda ortaya çıkan dil özelliklerini belirlemektir. Yöntem: Çalışmada 38 aylık vakanın dil örneği, dil değerlendirme ve genel gelişim test sonuçları incelenmiştir. Sonuç ve tartışma: Sonuçlar RAF1 geni mutasyonu sonrası oluşan NS’de dil bozukluğunun eşlik ettiğini göstermektedir. Çalışmanın sonuçları diğer dillerde yapılan NS vakalarının dil özellikleriyle benzerlik göstermektedir.

Introduction: Noonan Syndrome (NS) is a multiple congenital anomaly syndrome. NS is a single-gene disorder, it results from a missense mutation in of one of several different Ras/mitogen-activated protein kinase pathway genes. Mutations in PTPN11 gene, SOS1 gene, RAF1 gene, BRAF gene can cause NS phenotype. The aim of this study was to investigate language characteristics of a very rare syndrome and especially RAF1 gene mutation and its relation to language in NS. Method: The subject for this study was a 38-month-old male. Language data was gathered using spontaneous language sample obtained by the researcher at the clinic and by parents at home, and a standardized language tests for Turkish, TEDİL (Topbaş and Güven, 2007). In addition, the subject’s general development was assessed by administering The Bayley Test of Development (1935) at the age of 20 months (Table 1) and AGTE (Ankara Developmental Screening Inventory) (Erol, Sezgin and Savaşır, 1993) at the age of 38 months. The AGTE showed that he had a development level of 20 months, and delay in all areas of development. Results and discussion: The results indicate that RAF1 gene mutation in NS can be accompanied by a language disorder. The TEDIL results showed that the subject was delayed in both receptive and expressive language, the latter being more delayed than the former (Table 2). According to the spontaneous language sample, the subject’s language consisted of single words, mostly names, used inconsistently. The subject had not developed any suffixes. The transcripts were further analyzed using TR-LARSP (Topbaş, Cangökçe-Yaşar, and Ball, 2012) which showed that the subject was at level 1 (0;9-1,6 months). The results of the study share similarities with other studies on language characteristics of NS