Dil Konuşma ve Yutma Araştırmaları Dergisi
Yazarlar: Merve Nur SARIYER
Konular:-
Anahtar Kelimeler:Cri du chat,Crying of cat,Language disorder,The syndrome of 5P deletion
Özet: Purpose: Cri du chat syndrome (CDCS) is a rare genetic disorder that affects approximately 1 in 50.000 live births and results from a deletion of chromatin from the short arm of chromosome 5 (5p). Recent molecular studies have indicated that the main clinical characteristics of the syndrome (learning disability, speech delay, slow growth, microcephaly, and high-pitched monochromatic ‘cat-like cry’ from which the syndrome derives its name) correlate with the loss of a small region in 5p15.2, with the exception of the cat-like cry which has been localized to 5p15.3. The aim of this study was to investigate language characteristics of a rare syndrome Cri du Chat. Method: The subject for this study was a 72 -months- old male. Language data were gathered with using a standardized language tests for Turkish, TEDİL. In addition, for assesing subject’s receptive vocabulary and expressive vocabulary, TIFALDI was used. Spontaneous language sample was obtained by researcher at the clinic. The samples were analyzed at Speech Analysis of Language Transcripts (SALT). Results:The results indicate that Cri du Chat Syndrome could be accompanied by language disorder. The TEDİL results showed that the subject was delayed in both receptive and expressive language. The expressive language is more delayed than the receptive language . The TİFALDİ results showed that the expressive vocabulary was better than receptive vocabulary. According to spontaneous language sample, the subject’s language consisted of single words, limited morphemes. The results of the study share similarities with other studies on language characteristics of Cri du Chat Syndrome. Conclusion: Investigation of language characteristics of individuals with CDCS by using different methods and studies with more participants will be important for therapies to be carried out with these cases