Stickler Sendromuna Genel Bakış: Bir Derleme Çalışması

Yıl 2021, Cilt: 4 Sayı: 2, 243 - 260, 30.08.2021

Ayşe Işıldar

Öz

Amaç: Stickler Sendromu (STL) konjenital olarak ortaya çıkan ve çocuğun farklı gelişim alanlarını etkileyen bir bağ dokusu bozukluğudur. Bu çalışmanın amacı, STL’ye ilişkin alanyazındaki çalışmaların taranarak sendromun genel özellikleri, klinik özellikleri, dil ve konuşma özellikleri, tanılama süreçleri ve tedavisine dair bilgilerin derlenmesidir. Yöntem: Çalışmada derleme methodu kullanılarak 1990 yılı ile 2021 yılı arasında yayınlanan makaleler incelenmiştir. Makaleler “Stickler Sendromu”, “Stickler Syndrome”, “Stickler Syndrome speech and language”, “Stickler Syndrome clinical features”, “Stickler Syndrome genetic”, “Stickler Syndrome treatment”, “Stickler Syndrome diagnosis”, “Pierre Robin Sequence Stickler Syndrome” anahtar sözcükleri kullanılarak Türkçe ve İngilizce olarak aratılmıştır. Hakemli dergilerde yayınlanan ve STL’nin klinik özelliklerine dair bilgi içeren çalışmalar incelemeye dahil edilmiştir. Bulgular: İncelenen çalışmalar STL’nin klinik özellikleri, tanılama süreçleri ve tedavisi olmak üzere üç ana başlığa ayrılarak derlenmiştir. Klinik özellikler başlığı ise kraniyofasiyal anomaliler, işitme kaybı, dil ve konuşma özellikleri, oküler anomaliler, iskeletsel anomaliler olmak üzere beş alt başlıkta ele alınmıştır. Her bir başlıkta STL ile ilgili konulara ilişkin yapılan araştırma bulgularına yer verilmiştir. STL’nin klinik özelliklerine bakıldığında sıklıkla işitsel, oküler ve kraniyofasiyal sistemlerin etkilendiği görülmektedir. Mikrognati, damak yarığı, bifid uvula ve işitme kaybı en sık görülen farklılıklardan bazılarıdır. Özellikle kraniyofasiyal sistemlerindeki bu farklılıklar, STL’li çocukların dil ve konuşma gelişimlerini etkilemektedir. Sonuç: DKT’lerin ve diğer multidisipliner ekip uzmanlarının STL’nin karakteristik özelliklerini bilmeleri oldukça önemlidir. Yarık damak ya da Pierre Robin Sekansı ile kliniğe başvuran çocuklar mutlaka STL şüphesi ile de değerlendirilmelidir. STL’li bireylerin tedavisi multidisipliner yaklaşım ile tüm gelişimsel yetersizlikleri dikkate alınarak bireyin ihtiyaçlarına özgü planlanmalıdır. Özellikle kraniyofasiyal anomalilerin doğru zamanlama ile yönetimi STL’li çocukların dil ve konuşma gelişimleri bakımından önem arz etmektedir.

Anahtar Kelimeler

dil, konuşma, dil ve konuşma terapisti, kraniyofasiyal, Stickler Sendromu

Stickler Syndrome Speech and Language Characteristics

Öz

Purpose: Stickler Syndrome (STL) is a connective tissue disorder which occurs congenitally and affects several areas of development in childhood. This study aims to review the studies in the literature on STL and compile information about the general characteristics, clinical features, language and speech characteristics, diagnostic processes, and treatment of the syndrome. Method: The articles published between 1990 and 2021 were examined using the review method. “Stickler Sendromu”, “Stickler Syndrome”, “Stickler Syndrome speech and language”, “Stickler Syndrome clinical features”, “Stickler Syndrome genetic”, “Stickler Syndrome treatment”, “Stickler Syndrome diagnosis”, “Pierre Robin Sequence Stickler Syndrome” keywords were used to find related articles. Studies published in peer-reviewed journals and containing information about the clinical features of STL were included in the review. Results: The reviewed articles were compiled under three main headings: clinical features, diagnosing processes, and treatment of STL. The clinical features are covered under five sub-headings: craniofacial abnormalities, hearing loss, speech and language features, ocular abnormalities, and skeletal abnormalities. There are some research results related to STL under every heading. The genes affected seem to differ by the type of SLT observed. STL’s characteristic visual features include a flat nose with a raised tip, visable nostrils and micrognatia (Baker et al. 2011; Robin et al., 2017; Snead and Yates, 1999). The flat facial features are highly detectable in early childhood but become less so as the child grows. Micrognatia is considered as a part of PRS (Pierre Robin Sequence). In addition to micrognatia, PRS is characterised by cleft palate (60-90%) and glossoptosis (Robin et al., 2017). When the clinical characteristics of Stickler Syndrome are considered, it is observed that the condition frequently affects auditory, ocular, and craniofacial systems. Along with micrognathia, cleft palate, bifid uvula, and hearing loss are some of the other most frequent differences. In particular, the differences in craniofacial systems affect the language and speech development of children with STL. Conclusion: It is significant for speech and language therapists to recognize the distinguishing characteristic features of STL. Speech and language therapists should definitely evaluate the children who are seen at the clinic with cleft palate or PRS with the suspicion of STL. The treatment of the individuals with STL should be planned with the needs of the individual, thereby considering all developmental deficiencies, adopting a multidisciplinary approach. Intervention with the right timing is required particularly for craniofacial anomalies for the speech and language development of the children with STL.

Anahtar Kelimeler

craniofacial, language, speech, speech and language therapist, Stickler Syndrome

Kaynakça

• Acke, F. R. E., Dhooge, I. J. M., Malfait, F., ve De Leenheer, E. M. R. (2012). Hearing impairment in Stickler syndrome: a systematic review. Orphanet Journal of Rare Diseases, 7(1), 84.
• Akyol, N., Kazancıoglu, S. ve Kılıç, S. (1990). Stickler Sendromu. Turkiye Klinikleri Journal of Case Reports, 8(6), 559-562.
• Amlani, G. N. (2017). Art and Science of Cleft Lip and Cleft Palate Repair. JP Medical Ltd.
• Annunen, S., Körkkö, J., Czarny, M., Warman, M. L., Brunner, H. G., Kääriäinen, H., ... ve Cruysberg, J. R. (1999). Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. The American Journal of Human Genetics, 65(4), 974-983.
• Baker, S., Booth, C., Fillman, C., Shapiro, M., Blair, M. P., Hyland, J. C., ve Ala-Kokko, L. (2011). A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. American Journal of Medical Genetics Part A, 155(7), 1668–1672.
• Borazan, M., Akkoyun, İ., Karalezlı, A., ve Akova, Y. A. (2008). Stickler Sendromunda Mikrokornea. Retina-Vitreus/Journal of Retina-Vitreous, 16(4).
• Çaksen, H., Üzüm, K., Üstünbaş, H. B., Çetin, N., Çağıl, N. ve Tolu, İ. (1995). Bir Stickler Sendromu (Hereditary Artro-Ophthalmopathy) Vakası. Turkiye Klinikleri Journal of Pediatrics, 4(2), 70-72.
• Evans AK, Rahbar R, Rogers GF, Mulliken JB, Volk MS. (2006). Robin sequence: a retrospective review of 115 patients. Int J Pediatr Otorhinolaryngol; 70:973–80.
• Francomano, C. A., Liberfarb, R. M., Hirose, T., Maumenee, I. H., Streeten, E. A., Meyers, D. A., & Pyeritz, R. E. (1988). The Stickler Syndrome Is Closely Linked to COL2A1, the Structural Gene for Type II Collagen. Pathology and Immunopathology Research, 7(1-2), 104–106.
• Liberfarb, R. M., Levy, H. P., Rose, P. S., Wilkin, D. J., Davis, J., Balog, J. Z., ... ve Francomano, C. A. (2003). The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. Genetics in Medicine, 5(1), 21.
• Majava, M., Hoornaert, K. P., Bartholdi, D., Bouma, M. C., Bouman, K., Carrera, M., … Mortier, G. R. (2007). A report on 10 new patients with heterozygous mutations in theCOL11A1 gene and a review of genotype–phenotype correlations in type XI collagenopathies. American Journal of Medical Genetics Part A, 143A(3), 258–264.
• Nikopoulos, K., Schrauwen, I., Simon, M., Collin, R. W. J., Veckeneer, M., Keymolen, K., … van den Born, L. I. (2011). Autosomal Recessive Stickler Syndrome in Two Families Is Caused by Mutations in theCOL9A1Gene. Investigative Opthalmology ve Visual Science, 52(7), 4774.
• Nowak, C. B. (1998). Genetics and hearing loss: a review of Stickler syndrome. Journal of communication disorders, 31(5), 437-454.
• Peterson-Falzone, S. J., Trost-Cardamone, J., Karnell, M. P., ve Hardin-Jones, M. A. (2016). The Clinician's Guide to Treating Cleft Palate Speech-E-Book. Elsevier Health Sciences.
• Printzlau, A., & Andersen, M. (2004). Pierre Robin Sequence in Denmark: A Retrospective Population-Based Epidemiological Study. The Cleft Palate-Craniofacial Journal, 41(1), 47–52.
• Richards AJ, McNinch A, Martin H, Oakhill K, Rai H, Waller S, Treacy B, Whittaker J, Meredith S, Poulson A ve Snead MP. (2010). Stickler syndrome and the vitreous phenotype: Mutations in COL2A1 and COL11A1. Hum Mutat 31:E1461–E1471.
• Richards AJ, Yates JRW, Williams R, Payne SJ, Pope FM, Scott JD ve Snead MP. (1996). A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha-1(XI) collagen. Hum Mol Genet 5:1339–1343.
• Robin, N. H., Moran, R. T., ve Ala-Kokko, L. (2017). Stickler syndrome.
• Rose, P. S., Levy, H. P., Liberfarb, R. M., Davis, J., Szymko‐Bennett, Y., Rubin, B. I., ... ve Francomano, C. A. (2005). Stickler syndrome: clinical characteristics and diagnostic criteria. American Journal of Medical Genetics Part A, 138(3), 199-207.
• Shanske, A. L., Bogdanow, A., Shprintzen, R. J., ve Marion, R. W. (1997). The Marshall syndrome: report of a new family and review of the literature. American journal of medical genetics, 70(1), 52-57.
• Sirko-Osadsa DA, Murray MA, Scott JA, Lavery MA, Warman ML ve Robin NH. (1998). Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen. J Pediatr 132:368–371.
• Snead MP, Yates JR. Clinical and Molecular genetics of Stickler syndrome. (1999). J Med Genet. 36:353–9.
• Stickler, G. B., Hughes, W., ve Houchin, P. (2001). Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): a survey. Genetics in Medicine, 3(3), 192.
• Stratton, R. F., Lee, B., ve Ramirez, F. (1991). Marshall syndrome. American journal of medical genetics, 41(1), 35-38.
• Webb, A. C. ve Markus, A. F. (2002). The diagnosis and consequences of Stickler syndrome. British Journal of Oral and Maxillofacial Surgery, 40(1), 49-51.
• Van Camp G, Snoeckx RL, Hilgert N, van den Ende J, Fukuoka H, Wagatsuma M, Suzuki H, Smets RM, Vanhoenacker F, Declau F, Van de Heyning P, Usami S. 2006. A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. Am J Hum Genet 79:449–457.
• Van den Elzen, A. P. M., Semmekrot, B. A., Bongers, E. M. H. F., Huygen, P. L. M., ve Marres, H. A. M. (2001). Diagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literature. European Journal of Pediatrics, 160(1), 47–53.
• Vikkula, M., Madman, E. C., Lui, V. C., Zhidkova, N. I., Tiller, G. E., Goldring, M. B., ... ve Mayne, R. (1995). Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell, 80(3), 431-437.