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• W1566169 abstract "Summary: Medical problems in children with Down svnc/rome in the Erznnim area of Turkey: Down syndrome (DS) is diagnosed in - 1 Per 800 live births and is the most common known genetie cause of medical problems. To determine the prevalence of common medical problems in children with DS, a study was conducted between December 2003 and March 2010 in the Erzurum Nenehatun Obstetrics and Gynecology Hospital. 107 children with DS were entered into a retrospective observational study. Case notes were reviewed to obtain details regarding complications of children with DS. Medical problems such as cardiac, gastrointestinal, respiratory, sensory, orthopaedic anomalies, endocrine disorders, and obesity occur more frequently in children with DS. Clinicians should be aware of the risk of problems in children with DS. Key-words: Down syndrome - Medical problems - Health care - Genetics. INTRODUCTION Down syndrome (DS) is the most common genetic disorder affecting 1/800 live births irrespective of gender, ethnic or racial group (20). At about age 30 years the risk begins to rise sharply, reaching 1 in 25 births in the oldest maternal age group (45 and over years). Even though younger mothers have a much lower risk, their birth rate is so much higher that more than half of the mothers of all DS babies are younger than 35 years. The risk of DS due to translocation or partial trisomy is unrelated to maternal age. The paternal age appears to have no influence on the risk (34). Trisomy 21 , mosaic trisomy 21 or a Robertsonian translocation is implicated to cause DS (16). The diagnosis of DS at birth is based on the presence of a constellation of physical features and is confirmed by genetic karyotyping. All infants with this chromosome disorder do not have every feature of the Downsyndrome In fact, the physical expression of the syndrome is widely variable. Thus, the diagnosis may be missed if too much reliance is placed on finding the typical facies. Although the chromosomal basis of DS is clear, the pathogenesis for the chromosome abnormality is still poorly understood. With regard to the high percentage of all cases of trisomy 21 in which the abnormal gamete originates during maternal meiosis I is related to increased maternal age, is the underlying cause. One obvious possibility is the egg model: it has been suggested that the older the oocyte, the greater the change that the chromosomes will fail to disjoin correctly (28,34). The major cause for concern in DS is mental retardation. Even though in early infancy the child may not seem delayed in development, the delay is usually obvious by the end of the first year. The intelligence quotient (IQ) is usually 30 to 60 when the child is old enough to be tested. Nevertheless, many children with DS develop into happy, responsive, and even self-reliant persons in spite of these limitations (34). Further, DS is associated with a high prevalence of cardiac, gastrointestinal, skin, endocrine, genitalia, immunological, respiratory, sensory, and orthopaedic anomalies (11, 26, 39, 50). There is, also, recent evidence to indicate greater susceptibility to fatal sepsis (19). Some medical conditions are over-represented in people with DS, although accurate prevalence data are not widely published (3). Most of these conditions are treatable disorders which, if undiagnosed, impose an additional but preventable burden of secondary disability. Average life expectancy of persons with DS has increased into the middle 50s (52). The aims of this study were to determine the prevalence of common medical problems in children with DS in a defined geographical area (Erzurum area in Turkey). METHOD A retrospective observational study was conducted at the Department of Medical Genetics of Erzurum Nenehatun Obstetrics and Gynecology Hospital. After authorisation was obtained, anonymised information of medical problems was recorded from patients' notes. …" @default.
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• W1566169 title "Medical problems in children with Down syndrome in the Erzurum area of Turkey." @default.
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