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.
Keywords
cri du chat, crying of cat, language disorder, the syndrome of 5P deletion
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