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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How to cite

1.
Acar M, Zorlu P, Tos T, Koca SB, Şenel S. Evaluation of Demographic and Clinical Features of Patients with Down Syndrome: Single Center Experience. Turk J Pediatr Dis [Internet]. 2014 Aug. 1 [cited 2025 May 25];8(2):71-4. Available from: https://turkjpediatrdis.org/article/view/268