Parsiyel Trizomi 8q ve Monozomi 21p olan Dudak-Damak Yarıklı Bir Olguya Dil ve Konuşma Girişimi: Nadir Görülen Bir Olgu Sunumu

Yıl 2018, Cilt: 1 Sayı: 1, 19 - 30, 01.04.2018

Emrah Cangi

Öz

Giriş: Parsiyel trizomi 8q ve 21p birlikteliği oldukça nadir yapısal kromozal bozukluklardandır. Parsiyel 8q duplikasyonlarında genellikle mental retardasyon, hipertelorizm, basık burun kökü, damak yarığı gibi bulgular görülmektedir. Bu çalışmada, daha önce rapor edilmiş maternal geçişli trizomi 8q ve monozomi 21p birlikteliği olan 5 yaş 7 aylık bir erkek olgunun dil ve konuşma terapisti perspektifiyle değerlendirilmesine ilişkin bulgular sunulmuştur. Bu kapsamda çift taraflı komplet dudak ve damak yarığı olan olgunun mental, gelişim, dil, konuşma, davranış ve psikolojik özellikleri sunulmuş ve dil ve konuşma girişimine ilişkin stratejiler açıklanmıştır. Yöntem: Olgunun değerlendirilmesinde, Ankara Gelişim Tarama Envanteri (AGTE), Denver II Gelişimsel Tarama Testi, Türkçe Sesletim ve Sesbilgisi Testi (SST), Kay PENTAX Nasometer II, Türkçe Erken Dil Gelişimi Testi (TEDİL), SALT Windows Türkçe Clinical V9 Programı ve odyolojik değerlendirme gibi standart teknikler kullanılmıştır. İnformal olarak ise oral-motor değerlendirme ve dil örneği analizi yapılmıştır. Sonuç ve tartışma: Yapılan tüm standart ve informal değerlendirmeler sonucu olgunun, gelişimin tüm alanlarında, oral yapı ve fonksiyonlarında, dilin tüm bileşenlerinde, konuşma becerilerinde ve davranışlarında önemli eksikliklerin mevcut olduğu saptanmıştır. İncelenen olgu bağlamında kranofasiyal anomalilerde dil ve konuşma bozuklukları girişimine ilişkin önemli bulunan konular literatür ışığında tartışılmıştır.

Anahtar Kelimeler

trizomi 8q, monozomi 21p, dudak damak yarıkları, dil, konuşma

Language and Speech Intervention for a Case of Cleft Lip-Palate With Partial Trisomy 8q: Report of a Rare Case

Öz

Introduction: Partial trisomy 8q and 21p cooccurrences are quite rare structural chromosomal disorders. Partial 8q duplications usually include mental retardation, hypertelorism, a flattened nasal root and cleft palate. This study, aimed presents findings on the speech and language evaluation of a 5 year 7 months-old male with a previously reported maternal transitional trisomy 8q and monosomy 21p. The article presents the child’s mental, developmental, language, speech, behavioral and psychological features and explains possible strategies of speech and language intervention. Method: In the evaluation of the subject, Ankara Developmental Screening Inventory (AGTE), Developmental Screening Test (Denver II), Turkish Articulation and Phonology Test (SST), Kay PENTAX Nasometer II, Turkish version of Test of Early Language Development (TELD-3) (TEDIL), SALT Windows Clinical V9 (Turkish) and audiological evaluation standard techniques were used. In addition, oral-motor evaluation and language sample analysis were informally performed. Results and discussion: All of the standardized and informal assessment tools used revealed that the subject had significant impairments in all areas of development, in oral structure and function and in all components of language and speech and behavior. Oral evaluation showed that the child had repaired bilateral complete cleft, 2-5 mm fistula at the incisive foramen and a bifid uvula, limited movement of the velum which explained the nasality (Table 1). The child could chew, swallow and had no drooling. According to Denver II Developmental Screening Test-Turkish (Yalaz, Anlar ve Bayoğlu, 2010), the subject showed delay in all areas of development except for fine motor skills. Ankara Developmental Inventory (Savaşır, Sezgin ve Erol, 1998), however, revealed delay in all areas of development, ranging from 22-23 months in gross motor skills to 3 years 3-5 months in social skills and language. Based on the spontaneous conversation sample taken, the subject was found to have, in his phonetic inventory, /b, d, h, m, ʋ, j/ sounds in initial position, /b, m, n, ʋ, j/ in medial position and /l, s, t, j/ in final position. On the picture-naming subtest of The Articulation and Phonology Test (SST) (Topbaş, 2005), the subject had an age equivalent of <2.0 and on the auditory discrimination subtest, an age equivalent of >3, which indicated that sound discrimination was not the reason for his articulatory and/or phonological problems. The subject was found to use a number of phonological processes which included metathesis in word-final position which included /s, z, ʤ, ʧ, ʒ/ sounds, syllable deletion, de-nasalization, fronting, devoicing and gliding. The subject was observed to be over-active, had trouble establishing joint attention, had low intelligibility, and trouble starting and maintaining conversation. Based on TEDİL, the Turkish Early Language Development Test (Topbaş and Güven, 2011), his receptive language age was 3 years 3 months and expressive age, 4.0 years. His MLU was found to be 1.02, which, according to Turkish norms (Ege, Acarlar and Güleryüz, 1998), has an ageequivalent of 18.59 months. He was occasionally observed to use only the past tense suffixes -dı (definite) and mIs (story), the present continuous -Iyor and the dative -e and the accusative -I as well as the possessive -m. Therapy with this case took place one a week for 8 weeks and was based on evidence based naturalistic techniques. The aims included awareness of articulation positions, producing bilabial /p, b/ and alveolar /t, d/ sounds, teaching the negative suffix and others. The family was also advised about how to increase his vocabulary. In this case-study, the subject with the partial trisomy 8q and 21p co-occurrence was found to have not only a developmental delay but also varying degrees of delays in all components of language. Particularly, his intelligibility was found to be more related to his phonological problems than his cleft palate. Also, most important issues of speech and language disorders related to craniofacial anomalies and the subsequent therapies are here discussed in light of the relevant literature

Anahtar Kelimeler

trisomy 8q, monosomy 21p, cleft lip and palate, language, speech

Kaynakça

• Acarlar, F. (2006). Systematic Analysis of Language Transcripts (SALT), Turkish (Version 9) [Computer Software]. Language Analysis Lab, University of Wisconsin-Madison.
• Aksu, İ. (2010). 8-11 yaş grubundaki okul çağı çocuklarının nazometrik norm değerlerinin belirlenmesi (Yayımlanmamış Yüksek Lisans Tezi). Anadolu Üniversitesi, Eskişehir.
• Balasar, M., Oltulu, P. (2017). Trisomy 8 mosaicism syndrome with pigmentation anomalies: A case report. Pigmentary Disorders, 4:1.
• Chen, C., Lee, C., Pan, C., Kır, T., Chen, A. B. (1998). Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus, diaphragmatic hernia, urinary tract anomalies, congenital heart defect and kyphoscoliosis. Prenatal Diagnosis, 18, 1289–1293. PMID: 9885021
• Ege, P., Acarlar, F., Güleryüz, F. (1998). Türkçe kazanımında yaş ve ortalama sözce uzunluğunun ilişkisi, Türk Psikoloji Dergisi, 13 (41), 19-31.
• Feragen, K. B., Stock, N. M. Rumsey, N. (2014). Toward a reconsideration of inclusion and exclusion criteria in cleft lip and palate: Implications for psychological research. The Cleft Palate-Craniofacial Journal, 51(5):569-78.
• Hardin-Jones, M. A., Chapman, K. L., Scherer, N. J. (2006). Early intervention in children with cleft palate. The ASHA Leader, pp. 8–9, 32.
• Henningsson, G., Kuehn, D. P., Sell, D., Sweeney, T., Trost-Cardamone, J. E., Whitehill, T. L. (2008). Speech parameters group. Universal parameters for reporting speech outcomes in individual with cleft palate. The Cleft Palate-Craniofaial Journal, 45: 1–17.
• Johnson, C. J. (2006). Getting started in evidence-based practice for childhood speech-language disorders. American Journal of Speech Language Pathology, 15, 20–35.
• Kummer, A. (2007). Cleft palate and craniofacial anomalies: Effects on speech and resonance (2nd ed.). Clifton Park, NY: Delmar.
• Kummer, A.W. (2011). Disorders of resonance and airflow secondary to cleft palate and/or velopharyngeal dysfunction. Seminars in Speech and Language, 32 (2), 141-149.
• Leiter, R. G. (2005). Uluslararası Leiter Performans Testi’nin yönerge ve değerlendirmesi kılavuzu (Çev. F. Önen). Ankara: Milli Eğitim Bakanlığı Devlet Kitapları Müdürlüğü Basımevi.
• Otto, P. G., Toledo, S., Richieri-Costa, A., Otto, P. A., Vianna-Morgante, A. M., Kasahara, S. (1978). Partial monosomy 13 and 21 due to a familial 13/21 translocation. Human Genetics, 32, 1, 105-107. PMID: 649151
• Özdemir, M., Yüksel, Z., Karaer, K., Tekin, N., Küçük, H., Erzurumluoğlu, E., Çilingir, O. (2012). Partial trisomies of 8q and 15q due to maternal balanced translocations. Genetic Counseling, 23, 3, 375-382. PMID: 23072185
• Richman, L. C., McCoy, T. E., Conrad, A. L., Nopoulo, P. C. (2012). Neuropsychological, behavioral, and academic sequelae of cleft: early developmental, school age, and adolescent/ young adult outcomes.The Cleft Palate-Craniofacial Journal, 49(4):387–396.
• Sarah, H., Anette, L. (2011).Cleft palate speech assessment and intervention. Lohmander: John Wiley ve Sons,
• Savaşır, I., Sezgin, N., Erol, N. (1998). Ankara Gelişim Envanteri El Kitabı. Türk Psikologlar Derneği, 2. Ankara: Basım.
• Schinzel, A. (2001). Catalogue of Unbalanced Chromosome Aberrations in Man. Berlin: Walter de Gruyter.
• Topbaş, S. (2006). Türkçe sesletim-sesbilgisi testi: Geçerlik-güvenirlik ve standardizasyon çalışması. Türk Psikoloji Dergisi, 21(58), 39-56.
• Topbaş, S., Güven, S. (2011).Türkçe Erken Dil Gelişim Testi-TEDİL. Ankara: Detay Yay.
• Trauner, D. T. ve Nass, R. N. (2017). Developmental language disorders. Swaiman K. F. ve Stephen, S. (eds.), Swaiman's pediatric neurology e-book: Principles and practice (1062-1063). Edinburg: Elsevier.
• Yalaz, K., Anlar, B., Bayoğlu, B. U., (2010). Denver II gelişimsel tarama testi. Ankara: Gelişimsel Çocuk Nörolojisi Derneği.