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

Year 2014, Volume: 8 Issue: 2, 71 - 74, 01.08.2014

Mehtap Acar Pelin Zorlu Tülay Tos Serkan Bilge Koca Saliha Şenel

Abstract

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.

Keywords

Çocuk, Demografik özellikler, Down sendromu

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

Abstract

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

Keywords

Child, demografic featuresDown syndrome

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