Amaç: Dudak-damak yarığı (DDY) olan bireyler, doğumdan erişkinliğe kadar ki süreçte multidisipliner bir ekip tarafından uzun süreli takip ve tedaviye ihtiyaç duymaktadırlar. Kimi zaman DDY'li bireyler çeşitli sendromlarla ilişkilendirilmektedirler. Sendromik olan ve olmayan DDY'li olguların birbirlerinden ayırt edici özelliklerinin belirlenmesi, multidisipliner ekip elemanlarının bu olgular için doğru yönlendirme yapmalarına ve hem cerrahi hem de terapötik olarak doğru müdahalede bulunmalarına olanak sağlamaktadır. Bu çalışmanın amacı, DDY'li bireylerde sendromlarla ilişkilendirilen sağlık sorunları, periferal bulgular, genel gelişim ve dil sorunları açısından sendromu olan ve olmayan DDY'li 2 grubu karşılaştırmaktır. Gereç ve Yöntemler: Çalışmanın katılımcıları dudak-damak yarığı, submuköz damak yarığı ve velofaringeal yetmezlik sorunlarından en az birini yaşayan 0-12 yaş arasındaki bireylerden oluşmaktadır. Katılımcılar, kraniyofasiyal sendromu olan (n=19) ve herhangi bir kraniyofasiyal sendromu olmayan (n=48) olgular olarak 2 gruba ayrılmıştır. Değerlendirmeler için DudakDamak Yarığı Değerlendirme Formu, Ankara Gelişim Tarama Envanteri (AGTE) ve Türkçe Erken Dil Gelişimi Testi kullanılmıştır. Toplanan veriler IBM SPSS 25.0 yazılımı kullanılarak analiz edilmiştir. Bulgular: Her 2 grup arasında oral-periferal özellikler, sistemik tıbbi sorunlar, dil gelişimi ve genel gelişim açısından istatistiksel farklılıklar bulunmuştur. AGTE sonuçları, özellikle motor gelişim alanlarında, tavan etkisi nedeniyle klinik gözlemlerle örtüşmeyen sonuçlar vermiştir. Sonuç: Sendromik olgularda sendromik olmayanlara göre; gelişim gerilikleri, dil bozuklukları, sistemik sağlık sorunları ve periferal malformasyonlar çok daha fazla gözlenmektedir. Bu sonuçlara göre DDY ile birlikte gözlenen sistemik ve periferik sorunların varlığında dil ve konuşma terapistlerinin sendrom şüphesi ile genetik yönlendirme yapmaları önerilmektedir.
Anahtar Kelimeler: Dudak-damak yarığı; dil gelişimi; sendrom
Objective: Management of cleft lip and palate, especially when it is associated with craniofacial syndromes, requires long term treatments, several follow ups and multidisciplinary approach. It is necessary to differentiate between syndromic and non-syndromic cleft palate for accurate referrals, realistic goals and right surgical or educational treatments. The aim of this study is to compare individuals with syndromic and non-syndromic cleft palate in terms of systemic health problems, peripheral malformations, developmental disorders and language disorders. The purpose is to draw attention of the speech and language pathologists to the symptoms may differentiate syndromic individuals with cleft lip and palate from non-syndromic ones. Material and Methods: The participants of the study consisted of individuals aged 0-12 years who experienced at least one of the problems of cleft palate, submucous cleft and velopharyngeal insufficiency. Participants divided into two groups; with syndrome (n=19) and without syndrome (n=48). Cleft Lip and Palate Assessment Form, Ankara Development Screening Inventory, Test of Early Language Development were used for the assessments. Statistical analysis was done by SPSS and Chi Square Test was used to compare the groups. Results: We found statistical differences between two groups in terms of systemic health problems, peripheral malformations, developmental disorders and language disorders. Conclusion: The health problems which are not related with cleft lip and palate directly but accompanying it must be assessed in details and these individuals must be referral to the genetic department.
Keywords: Cleft lip and palate; language development; syndrome
- Mossey P, Castillia E. Global Registry and Database on Craniofacial Anomalies. Geneva: World HealthOrganization; 2003. [Link]
- Kummer AW. Speech evaluation for patients with cleft palate. Clin Plast Surg. 2014;41(2):241-51. [Crossref] [PubMed]
- Shprintzen RJ, Siegel-Sadewitz VL, Amato J, Goldberg RB. Anomalies associated with cleft lip, cleft palate, or both. Am J Med Genet. 1985;20(4):585-95. [Crossref] [PubMed]
- Spranger J, Benirschke K, Hall JG, Lenz W, Lowry RB, Opitz JM, et al. Errors of morphogenesis: concepts and terms. Recommendations of an international working group. J Pediatr. 1982;100(1):160-5. [Crossref] [PubMed]
- Shprintzen RJ, Goldberg R, Golding-Kushner KJ, Marion RW. Late-onset psychosis in the velo-cardio-facial syndrome. Am J Med Genet. 1992;42(1):141-2. [Crossref] [PubMed]
- Gorlin RJ, Cohen MM, Hennekam RCM. Syndromes of the Head and Neck. 4th ed. New York: Oxford University Press; 2001.
- Ünal-Logacev Ö, Kazanoğlu D, Balo E, Nemutlu A. Cleft lip and palate assessment form: Medical history, oral peripheral characteristics, speech problems. Turk J Plast Surg. 2018;26(4),156-68. [Link]
- Cohen MM Jr, Bankier A. Syndrome delineation involving orofacial clefting. Cleft Palate Craniofac J. 1991;28(1):119-20. [Crossref] [PubMed]
- Brito LA, Meira JG, Kobayashi GS, Passos-Bueno MR. Genetics and management of the patient with orofacial cleft. Plast Surg Int. 2012;2012:782821. [Crossref] [PubMed] [PMC]
- Shprintzen RJ. Velo-cardio-facial syndrome: 30 Years of study. Dev Disabil Res Rev. 2008;14(1):3-10. [Crossref] [PubMed] [PMC]
- Stoll C, Alembik Y, Dott B, Roth MP. Associated malformations in cases with oral clefts. Cleft Palate Craniofac J. 2000;37(1):41-7. [Crossref] [PubMed]
- Andersson EM, Sandvik L, Abyholm F, Semb G. Clefts of the secondary palate referred to the Oslo Cleft Team: epidemiology and cleft severity in 994 individuals. Cleft Palate Craniofac J. 2010;47(4):335-42. [Crossref] [PubMed]
- Milerad J, Larson O, Hagberg C, Ideberg M. Associated malformations in infants with cleft lip and palate: a prospective, population-based study. Pediatrics. 1997;100(2 Pt 1):180-6. [Crossref] [PubMed]
- Chetpakdeechit W, Mohlin B, Persson C, Hagberg C. Cleft extension and risks of other birth defects in children with isolated cleft palate. Acta Odontol Scand. 2010;68(2):86-90. [Crossref] [PubMed]
- Topbaş S, Güven S. Türkçe Erken Dil Gelişim Testi-TEDIL-3 - Ankara: Detay Yayıncılık; 2011.
- Savaşır I, Sezgin N, Erol N. Ankara Gelişim Tarama Envanteri El Kitabı. Ankara: Ankara Üniversitesi Tıp Fakültesi; 1995.
- Kummer AW. Cleft palate and craniofacial anomalies. Effects on Speech and Resonance. 3rd ed. Delmar Health Care. Clifton Park, NY; 2014. p.164-81.
- Beriaghi S, Myers SL, Jensen SA, Kaimal S, Chan CM, Schaefer GB, et al. Cleft lip and palate: association with other congenital malformations. J Clin Pediatr Dent. 2009;33(3):207-10. [Crossref] [PubMed]
- Bleile K.Evaluating articulation and phonological disorders when the clock is running. American Journal of Speech-Language Pathology. 2002;11(3):243-9. [Crossref]
- Cooper-Brown L, Copeland S, Dailey S, Downey D, Petersen MC, Stimson C, et al. Feeding and swallowing dysfunction in genetic syndromes. Dev Disabil Res Rev. 2008;14(2):147-57. [Crossref] [PubMed]
- Hagberg C, Larson O, Milerad J. Incidence of cleft lip and palate and risks of additional malformations. Cleft Palate Craniofac J. 1998;35(1):40-5. [Crossref] [PubMed]
- Shafi T, Khan MR, Atiq M. Congenital heart disease and associated malformations in children with cleft lip and palate in Pakistan. Br J Plast Surg. 2003;56(2):106-9. [Crossref] [PubMed]
- Calzolari E, Pierini A, Astolfi G, Bianchi F, Neville AJ, Rivieri F, et al. Associated anomalies in multi-malformed infants with cleft lip and palate: An epidemiologic study of nearly 6 million births in 23 EUROCAT registries. Am J Med Genet A. 2007;143A(6):528-37. [Crossref] [PubMed]
- Rustemeyer J, Günther L, Krause HR, Petersen S, Thieme V, Bremerich A, et al. Assoziierte Anomalien bei Lippen-Kiefer-Gaumen-Spalten [Associated anomalies in lip-maxillopalatal clefts]. Mund Kiefer Gesichtschir. 2000;4(5):274-7. [Crossref] [PubMed]
- Bermejo E, Martínez-Frías ML. Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain. Am J Med Genet. 1998;75(5):497-504. [Crossref] [PubMed]
- Kasten EF, Schmidt SP, Zickler CF, Berner E, Damian LA, Christian GM, et al. Team care of the patient with cleft lip and palate. Curr Probl Pediatr Adolesc Health Care. 2008;38(5):138-58. [Crossref] [PubMed]
- McWilliams BJ, Matthews HP. A comparison of intelligence and social maturity in children with unilateral complete clefts and those with isolated cleft palates. Cleft Palate J. 1979;16(4):363-72. [PubMed]
- Mossey PA, Little J, Munger RG, Dixon MJ, Shaw WC. Cleft lip and palate. Lancet. 2009;374(9703):1773-85. [Crossref] [PubMed]
- Collett BR, Leroux B, Speltz ML. Language and early reading among children with orofacial clefts. Cleft Palate Craniofac J. 2010;47(3):284-92. [Crossref] [PubMed] [PMC]
- Hardin-Jones M, Chapman KL. Cognitive and language issues associated with cleft lip and palate. Semin Speech Lang. 2011;32(2):127-40. [Crossref] [PubMed]
- Strauss RP, Broder H. Children with cleft lip/palate and mental retardation: a subpopulation of cleft-craniofacial team patients. Cleft Palate Craniofac J. 1993;30(6):548-56. [Crossref] [PubMed]
- Broen PA, Devers MC, Doyle SS, Prouty JM, Moller KT. Acquisition of linguistic and cognitive skills by children with cleft palate. J Speech Lang Hear Res. 1998;41(3):676-87. [Crossref] [PubMed]
- Lilius GP. Clefts with associated anomalies and syndromes in Finland. Scand J Plast Reconstr Surg Hand Surg. 1992;26(2):185-96. [Crossref] [PubMed]
- Sekhon PS, Ethunandan M, Markus AF, Krishnan G, Rao CB. Congenital anomalies associated with cleft lip and palate-an analysis of 1623 consecutive patients. Cleft Palate Craniofac J. 2011;48(4):371-8. [Crossref] [PubMed]
- Wyszynski DF, Sárközi A, Czeizel AE. Oral clefts with associated anomalies: methodological issues. Cleft Palate Craniofac J. 2006;43(1):1-6. [Crossref] [PubMed]
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