By: Matthew Wallace
Developmental disabilities affect thousands of children each year. Down syndrome, one of the most common developmental disabilities associated with genetics, causes a range of physical and mental challenges. The Centers for Disease Control and Prevention estimates that roughly 6,000 children are born with Down syndrome in the United States each year. The condition begins in the womb. Mothers can take several precautions during pregnancy and receive prenatal testing, but parents cannot prevent the condition. Despite the challenges the condition presents, children and adults living with Down syndrome can live healthy, productive and positive lives.
Signs and Symptoms
Children living with Down syndrome share multiple physical characteristics. Some common physical characteristics include small hands and feet, little pinky fingers and a face that appears flat. In addition, the condition causes developmental delays that affect a child’s ability to communicate or walk; they generally develop more slowly than other children do. Adults living with the condition face an increased risk of medical challenges, including heart defects, eye problems, respiratory infections and digestive tract blockages.
Genetics plays a significant role in Down syndrome. Normal fetal development requires 46 chromosomes: 23 from the mother and 23 from the father. Children who develop Down syndrome receive an extra chromosome—called chromosome 21—from the sperm or egg. Consequently, the child starts life with 47 chromosomes and the extra one copies itself into each cell of the child’s body. Today, scientists are not sure what causes the child to receive an extra chromosome; although scientists understand that the mother’s age can contribute to an increased risk of the disability.
Management/Treatment of the Disability
Currently, no cure is available for the condition, but parents can take steps to manage the challenges that the condition causes. Children can lead healthy and productive lives when parents implement several medical and environmental techniques. Parents can work with doctors to identify common medical problems and choose to implement corrective surgery to prevent complications. In addition, developing an enriching environment that nurtures the child’s sense of self-esteem and social circles leads to a well-adjusted individual.
Prenatal testing offers benefits and raises ethical concerns. Parents who find out that their child has Down syndrome obtain additional time to prepare emotionally and financially for a child with special needs. In the past, doctors offered prenatal testing when women were 35 years of age or older. Today, many women elect testing to determine their risk of producing a child with Down syndrome during the 11th and 13th weeks of pregnancy.
Doctors use two combined methods to test for the condition: ultrasound and blood tests. The ultrasound allows the physician to view the back of the child’s neck. This area generally collects additional fluid if the child is experiencing abnormalities. Doctors call this portion of the testing nuchal translucency screening.
The second portion of the test involves the search for abnormal levels of proteins and hormones in the mother’s blood. Doctors search for appropriate or abnormal levels of pregnancy-associated plasma protein-A. In addition, blood screening for human chorionic gonadotropin levels can reveal concerns. These tests combined with the nuchal translucency screening deliver strong evidence of fetal problems and provide a basis for seeking additional testing.
In the event testing identifies that a woman has high-risk indicators, invasive testing is an option, which raises several ethical concerns. For example, amniocentesis—a test that draws an amniotic fluid sample from around the fetus to analyze chromosomes—carries the risk of miscarriage. Chorionic villus sampling also analyzes chromosomal structure, but carries a higher risk of miscarriage than amniocentesis. Scientists are currently searching for less invasive methods of detecting Down syndrome.
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