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About Down syndrome

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Author: Jane Brooks

Individuals with Down syndrome have an increased risk of developing several medical conditions. These include gastroesophageal reflux, which is a backflow of acidic stomach contents into the esophagus, and celiac disease, which is an intolerance of a wheat protein called gluten. Individuals with Down syndrome generally have outstanding social skills and in a supportive setting can be fairly high-functioning. Due to improving medical care, the life expectancy for someone born with Down syndrome has increased from twenty-five in the early 1980s to more than fifty today. Individuals with Down syndrome also are at a higher risk of developing Alzheimer's disease, autism, and many neurological and psychiatric disorders, including obsessive-compulsive disorder and depression. Individuals with this chromosomal arrangement are phenotypically normal. During meiosis , the chromosomal arrangement interferes with normal separation of chromosomes. Individuals with DS have a high rate of congenital heart defects (35 to 50%) and should have an echocardiogram within the first two months of life. National organizations provide medical checklists for individuals with DS that you may wish to pass on to your child's physician. Babies with Down Syndrome have distinctive physical features, including a slightly flattened face, eyes slanting upwards, and slightly smaller ears, hands and feet. They usually have some degree of intellectual impairment, and may be developmentally delayed. Babies born with spina bifida are also more likely to have a collection of fluid on the brain, called hydrocephalus, which can be treated surgically but may lead to mental handicap. Babies with Down syndrome can be breast-fed, and breast-feeding mothers may find it helpful to talk with their doctor or nurse to prepare for the process. Babies and children with Down syndrome also have an increased risk of developing hypothyroidism (low thyroid hormone), leukemia, and seizure disorders. Babies with Down's syndrome are usually diagnosed in the first few days after birth. Doctors and midwifes are trained to identify the physical characteristics associated with the condition. Diagnosing Down syndrome requires a blood test so that the characteristic chromosomal abnormality (Trisomy 21) can be identified. The necessary procedure is known as a chromosomal karyotype. Diagnosing Down syndrome can also be done shortly after birth. In this case, the doctor may suspect that a baby has the condition based on the presence of possible characteristics of the disorder.
   
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