Down Sendromlu Hastaların Demografik ve Klinik Özelliklerinin Değerlendirilmesi: Tek Merkez Deneyimi

Öz

Amaç: Down Sendromu; dismorfik bulgular ve mental retardasyona ek olarak pek çok malformasyon ve hastalığın eşlik edebildiği en sık görülen kromozom anomalisidir. Bu çalışmada, Down Sendromlu hastaların sosyodemografik, klinik özelliklerinin saptanması ve bulguların literatür eşliğinde tartışılması amaçlanmıştır.Gereç ve Yöntemler: 2011-2013 Ocak tarihleri arasında Pediatri ve Genetik bölümlerinde takip edilen, Down sendromlu 100 hastanın değerlendirildiği tanımlayıcı bir çalışmadır.Bulgular: Bu çalışmaya 100 hasta dahil edildi (Yaş ortalaması 33.4±5.06 ay). Annelerin yaş ortalaması etkilenen çocuk doğduğunda 29.9±6.7 yıldı. Annelerin çoğunluğu (%74) çocuk doğduğunda 35 yaş altındaydı. Hastaların 85’inde (%85) eşlik eden hastalık saptandı. Bunlar; başlıca konjenital kalp hastalıkları (%47) olmak üzere hipotiroidi (%14), işitme kaybı (%8), myopi (%6), inmemiş testis (%3), hidronefroz (%2), epilepsi (%2), intestinal obstrüksiyon (%1), pes ekinovarus (%1), ve subependimal kist (%1)’di.Sonuç: Çalışmamızda %95 hastada serbest trizomi saptanmış olmasına rağmen annelerin çoğunluğunun Down sendromlu çocuğu doğduğunda 35 yaş altındaydı. Bu, Down sendromu için genetik veya çevresel başka risk faktörlerinin de olduğuna işaret edebilir. Down sendromu çok çeşitli konjenital malformasyonlar ve hastalıklarla birliktelik gösterebilir. Çocuk hekimlerinin Down Sendromuna eşlik edebilecek hastalıkları bilmesi ve izlemesi hastaların yaşam kalitesinin artmasında oldukça önemlidir.

Anahtar Kelimeler

• Çocuk, Demografik özellikler, Down sendromu

Evaluation of Demographic and Clinical Features of Patients with Down Syndrome: Single Center Experience

Öz

Aim: Down Syndrome is the most common chromosomal abnormality and is accompanied by many malformations and disorders in addition to the dysmorphic features and mental retardation. The aim of this study was to determine the sociodemographic and clinical characteristics of patients with Down syndrome and to discuss the findings with the literature.Material and Methods: This is a descriptive study of 100 patients with Down syndrome followed by Pediatrics and Genetics departments between January 2011 and 2013.Results: A total of 100 patients were included in this study (mean age, 33.4± 5.06 months). The mean maternal age at birth of the affected child was 29.9±6.7 years (range: 13.1 - 46.9 years). The majority of the mothers (74%) were under 35 years old at the birth of the affected child. Concomitant diseases were present in 85% of the patients and included congenital heart diseases (47%), hypothyroidism (14%), hearing loss (8v), myopia (6%), undescended testis (3%), hydronephrosis (x2%), epilepsy (2%), intestinal obstruction (1v), pes equinovarus (1%), and subependymal cysts (1v). Conclusion: Although 95% of our patients had free trisomy, the majority of the mothers were under the age of 35 when the child was born with Down syndrome. This may point to another genetic or environmental risk factors for Down syndrome. Down syndrome may be associated with a wide variety of congenital malformations and disorders. It is very important for pediatricians to be aware of and to monitor these problems that may accompany Down syndrome to improve the quality of life of the patients

Anahtar Kelimeler

• Child, demografic featuresDown syndrome

Kaynakça

1. Pavarino Bertelli EC, Biselli JM, Bonfim D, Goloni-Bertollo EM. Clinical profile of children with Down syndrome treated in a genetics outpatient service in the southeast of Brazil. Rev Assoc Med Bras 2009;55:547-52.
2. Ahmed I, Ghafoor T, Samore NA, Chattha MN. Down syndrome: Clinical and cytogenetic analysis. J Coll Physicians Surg Pak 2005;15:426-9.
3. Loane M, Morris JK, Addor MC, Arriola L, Budd J, Doray B, et al. Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: Impact of maternal age and prenatal screening. Eur J Hum Genet 2013;21:27-33.
4. Kolgeci S, Kolgeci J, Azemi M, Shala-Beqiraj R, Gashi Z, Sopjani M. Cytogenetic study in children with down syndrome among kosova Albanian population between 2000 and 2010. Mater Sociomed 2013;25:131-5.
5. Hunter JE, Allen EG, Shin M, Bean LJ, Correa A, Druschel C, et al. The association of low socioeconomic status and the risk of having a child with Down syndrome: A report from the National Down Syndrome Project. Genet Med 2013;15:698-705.
6. Mohanty PK, Kapoor S, Dubey AP, Pandey S, Shah R, Nayak HK, et al. Evaluation of C677T polymorphism of the methylenetetra hydrofolate reductase gene and its association with levels of serum homocysteine, folate, and vitamin B12 as maternal risk factors for Down syndrome. Indian J Hum Genet 2012;18:285-9.
7. Wang SS, Wang C, Qiao FY, Lv JJ, Feng L. Polymorphisms in genes RFC-1/CBS as maternal risk factors for Down syndrome in China. Arch Gynecol Obstet 2013;288:273-7.
8. Biselli JM, Goloni-Bertollo EM, Zampieri BL, Haddad R, Eberlin MN, Pavarino-Bertelli EC. Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: Maternal risk factors for Down syndrome in Brazil. Genet Mol Res 2008;7:33-42.

9. da Silva LR, Vergani N, Galdieri Lde C, Ribeiro Porto MP, Longhitano SB, Brunoni D, et al. Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil. Am J Med Genet A 2005;135:263-7.
10. Freeman SB, Bean LH, Allen EG, Tinker SW, Locke AE, Druschel C, et al. Ethnicity, sex and the incidence of congenital heart defects: A report from the National Down Syndrome Project. Genet Med 2008;10:173-80.
11. Kava MP, Tullu MS, Muranjan MN, Girisha KM. Down syndrome: Clinical profile from India. Arch Med Res 2004;35:31-5.
12. Baraona F, Gurvitz M, Landzberg MJ, Opotowsky AR. Hospitalizations and mortality in the United States for adults with Down syndrome and congenital heart disease. Am J Cardiol 2013;111:1046-51.
13. Elmagrpy Z, Rayani A, Shah A, Habas E, Aburawi EH. Down syndrome and congenital heart disease: Why the regional difference as observed in the Libyan experience? Cardiovasc J Afr 2011;22:306-9.
14. Cebeci AN, Güven A, Yıldız M. Profile of hypothyroidism in Down’s syndrome. J Clin Res Pediatr Endocrinol 2013;5:116-20.
15. Shaw CK, Thapalial A, Nanda S, Shaw P. Thyroid dysfunction in Down syndrome. Kathmandu Univ Med J (KUMJ) 2006;4:182-6.
16. Malik V, Verma RU, Joshi V, Sheehan PZ. An evidence-based approach to the 12-min consultation for a child with Down’s syndrome. Clin Otolaryngol 2012;37:291-6.
17. Adio AO, Wajuihian SO. Ophthalmic manifestations of children with Down syndrome in Port Harcourt, Nigeria. Clin Ophthalmol 2012;6:1859-64.
18. Egan JF, Smith K, Timms D, Bolnick JM, Camphell WA, Benn PA. Demographic differences in Down syndrome livebirths in the US from 1989 to 2006. Prenatal Diagnosis 2011;31:389-94.
19. Arya R, Kabra M, Gulati S. Epilepsy in children with Down syndrome. Epileptic Disord 2011;13:1-7.
20. Kondolot M, Demirçeken F, Ertan Ü. 52 vaka ile Türk çocuklarında Çölyak hastalığı /52 cases with celiac disease in Turkish children. Türkiye Çocuk Hast Derg 2009;3:10-7.
21. Esbensen AJ, Seltzer MM. Accounting for the Down syndrome advantage? Am J Intellect Dev Disabil 2011;116:3-15.