Saliha ŞENEL, Tülay TOS, Serkan Bilge KOCA, Mehtap ACAR, Pelin ZORLU

Down Sendromlu Hastaların Demografi̇k ve Kli̇ni̇k Özelli̇kleri̇ni̇n Değerlendi̇ri̇lmesi̇: Tek Merkez Deneyimi

Amaç: Down Sendromu; dismorfik bulgular ve mental retardasyona ek olarak pek çok malformasyon ve hastalığın eşlikedebildiği en sık görülen kromozom anomalisidir. Bu çalışmada, Down Sendromlu hastaların sosyodemografik, kliniközelliklerinin saptanması ve bulguların literatür eşliğinde tartışılması amaçlanmıştır. Gereç ve Yöntemler: 2011-2013 Ocak tarihleri arasında Pediatri ve Genetik bölümlerinde takip edilen, Down send- romlu 100 hastanın değerlendirildiği tanımlayıcı bir çalışmadır.Bulgular: Bu çalışmaya 100 hasta dahil edildi (Yaş ortalaması 33.4±5.06 ay). Annelerin yaş ortalaması etkilenen çocukdoğduğunda 29.9±6.7 yıldı. Annelerin çoğunluğu (%74) çocuk doğduğunda 35 yaş altındaydı. Hastaların 85inde (%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 send- romlu çocuğu doğduğunda 35 yaş altındaydı. Bu, Down sendromu için genetik veya çevresel başka risk faktörlerininde 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 art- masında oldukça önemlidir.

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

Aim: Down Syndrome is the most common chromosomal abnormality and is accompanied by many malformationsand disorders in addition to the dysmorphic features and mental retardation. The aim of this study was to determinethe sociodemographic and clinical characteristics of patients with Down syndrome and to discuss the findings with theliterature. Material and Methods: This is a descriptive study of 100 patients with Down syndrome followed by Pediatrics andGenetics 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 atbirth of the affected child was 29.9±6.7 years (range: 13.1 - 46.9 years). The majority of the mothers (74%) were under35 years old at the birth of the affected child. Concomitant diseases were present in 85% of the patients and includedcongenital 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 thechild 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 forpediatricians to be aware of and to monitor these problems that may accompany Down syndrome to improve the qualityof life of the patients.

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