Cri du Chat Sendromu Dil Özellikleri: Olgu Sunumu

Year 2018, Volume: 1 Issue: 3, 246 - 257, 01.12.2018

Merve Nur Sarıyer

Abstract

Amaç: Cri du Chat Sendromu (CDCS), 5 no’lu kromozomun silinmesi ile oluşan konjenital bir sendromdur. Klinik özellikler bireyden bireye farklılık gösterse de, sendromun en belirgin özelliği doğuştan yüksek perdeli ağlamadır. Fiziksel olarak, maloklüzyon, mikrosefali,motor gelişim geriliği mevcuttur. Farklı derecede zihinsel yetersizlik gözlenmektedir. Dil gelişimlerinde, tipik gelişim gösteren akranları ile karşılaştırıldıklarında alıcı ve ifade edici dil becerilerinde gecikme mevcuttur. Sentaktik becerilerine yönelik sınırlı sayıda çalışma mevcuttur. Tek olgu üzerinde Cri du Chat sendromunun dil özelliklerinin incelenmesi çalışmanın amacını oluşturmaktadır. Yöntem: Çalışmada 72 aylık olgunun dil becerileri dil örneği ve standart dil değerlendirme testleri kullanılarak betimlenmiştir. Bulgular: Sonuçlar, Cri du Chat sendromunda alıcı dil becerisi ve ifade edici dil becerisi arasında fark olduğunu göstermektedir. Sözcük dağarcığında ise, ifade edici dil sözcük dağarcığı, alıcı dil sözcük dağarcığına göre daha iyidir. Çalışmanın sonuçları farklı dillerde yapılan Cri du Chat sendromu olgularının dil özellikleri ile benzerlik göstermektedir. Sonuç: CDCS olan bireylerin dil özelliklerinin farklı yöntemler kullanılarak desenlenecek araştırmalarla ve daha fazla katılımcıyla yapılacak çalışmalarla incelenmesinin bu olgularla yürütülecek terapiler açısından önemli olduğu düşünülmektedir.

Keywords

cri du chat, dil, dil bozukluğu, kedi miyavlaması, 5P delesyon sendromu

Language Characteristics of a Child With Cri du Chat Syndrome

Abstract

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

References

• Abbeduto, L., Brady, N., Kover, S. T. (2007). Language development and fragile X syndrome: Profiles, syndrome- specificity, and within-syndrome differences. Mental Retardation and Developmental Disabilities Research Reviews 13, 36–46.
• Acarlar, F., Miller, J. F., Johnston J.R. (2006). Systematic Analysis of Language Transcripts (SALT). Turkish (Version 9) (Computer Software), Language Analysis Lab, University of Wisconsin-Madison. (Distrubuted by the Turkish Psychological Association).
• Berument Kazak, S., Güven, A.G. (2013). Türkçe İfade Edici ve Alıcı Dil (TİFALDİ) Testi: I. Alıcı Dil Kelime Alt Testi Standardizasyonu ve Güvenirlik-Geçerlik Çalışması. Türk Psikiyatri Dergisi, 24, 1-11.
• Brock, J. (2007). Language abilities in Williams syndrome: A critical review. Development and Psychopathology, 19, 97–127.
• Carlin, M. E. (1990). The İmproved Prognosis İn Cri-Du-Chat (5p–) Syndrome. W. I. Fraser (Ed.), Key İssues İn Mental Retardation Research. London: Routledge, 64–73.
• Collins, M. S. R., & Cornish, K. (2002). A survey of the prevalence of sterotypy, selfinjury and aggression in children and young adults with Cri du Chat syndrome. Journal of İntellectual Disability Research, 46, 133– 140.
• Cornish, K., Munir, F. (1998). Receptive and expressive language skills in children with cri du chat syndrome. Journal of Communication Disorders, 31, 73–81.
• Cornish, K., Bramble, D., Munir, F., Pigram, J. (1999). Cognitive functioning in children with typical cri du chat (5p–) syndrome. Developmental Medicine and Child Neurology, 41, 263–266.
• Güven, S., Topbaş, S. (2009). Erken Dil Gelişimi Testi- Üçüncü Edisyon’un [Test Of Early Language Development-Third Edition (TELD-3)] Türkçeye Uyarlama, Geçerlik ve Güvenirlik Ön Çalışması. Yüksek Lisans Tezi. Eskişehir: Anadolu Üniversitesi Sağlık Bilimleri Enstitüsü Dil ve Konuşma Terapistliği Anabilim Dalı.
• Higurashi, M., Oda, M., Iijima, K., Iijima, S., Takeshita, T, Watanabe, N., Woneyama, K. (1990). Livebirth prevalence and follow-up of malformation syndromes in 27.472 newborns. Brain Development, 12, 770– 773.
• Hresko, W. P., Reid, D. K.,Hammill, D. D., (1999). Test of early language development (3rd ed.). Austin, TX: Pro-Ed.
• Kızılay, A., Tan, M. (2009). Yapısal Kaynaklı Ses Bozuklukları. Mehmet Akif Kılıç ve Haldun Oğuz (Ed), Klinik Ses Bozuklukları içinde (s. 24-26). Adana: Nobel Kitabevi.
• Kristoffersen, K. E. (2004). Consonant productions in three children with cri du chat syndrome. B.E. Murdoch, J. Goozee, B.-M. Wehlan, & K. Docking (Ed.), 2004 IALP Congress – Proceedings. Speech Pathology Australia.
• Kristoffersen, K. E. (2005). Vowel productions in the speech of three children with cri du chat syndrome. Journal of Multilingual Communication Disorders, 3, 128–135.
• Kristoffersen, K.E. (2007b). Consonants in Cri du chat syndrome: A case study. Journal of Communication Disorders (2007), doi:10.1016/j.jcomdis.2007.08.002.
• Kristoffersen, E. M. (2008). Speech and language development in cri du chat syndrome: A critical review. Clinical Linguistics & Phonetics. Doi: https://doi.org/10.1080/02699200801892108.
• Medina, M., Mariescu, R. C., Overhauser, J., & Kosik, K. S. (2000). Hemizygosity of (-catenin (CTNND2) is associated with severe mental retardation in Cri-du-chatsyndrome. Genomics, 63, 157–164.
• Nardi,, S. (2013). The Cri Du Chat Syndrome.Technical Aspects and Educational Guidelines.
• https://www.criduchat.it/documents/ABC-Criduchat-Technical-aspects-Educational-Guidelines-EN-web.pdf adresinden alınmıştır (Erişim tarihi: 02.11.2018)
• Roberts, J. E., Price, J., Malkin, C. (2007). Language and communication development in down syndrome. Mental Retardation and Developmental Disabilities Research Reviews 13, 26–35.
• Schlegel, R. J., Neu, R.L., Carneiro Leão, J, Reiss, J. A., Nolan, T. B., & Gardner, L. I. (1967). Cri-du-chat syndrome in a 10 year old girl with deletion of the short arms of chromosome number 5. Helvetica Paediatrica Acta, 22, 2–12.
• Sohner, L., Mitchell, P. (1991). Phonatory and phonetic characteristics of prelinguistic vocal development in cri du chat syndrome. Journal of Communication Disorders, 24, 13–20.
• Sparks, S., Hutchinson, B. (1980). Cri du chat: Report of a case. Journal of Communication Disorders, 13, 9-13.
• Topbaş, S., Güven, S. (2013). Türkçe Erken Dil Gelişim Testi. Ankara, Detay Yayıncılık.
• Wilkins, L. E., Brown, J. A., Wolf, B. (1980). Psychomotor development in 65 homereared children with cri-du- chat syndrome. The Journal Of Pediatrics, 97, 401–405.