Down Syndrome

Down syndrome is a genetic disorder which leads to cognitive impairment. People with Down syndrome have learning difficulties, low muscle tone, and distinctive facial features. It was not until 1959 that the cause of Down syndrome was actually found. Down syndrome is fairly common, occurring in 1 in 800 babies.

Causes and Concerns

Down syndrome is a disorder that occurs from an extra chromosome (chromosome 21). The extra chromosome can come from either parent, but it is typically inherited from the mother. It is unknown what actually causes an extra chromosome, but scientists do know that the mother’s age is a big factor. The only risk factor that is known for Down syndrome is the age of the mother at the time of conception. When a mother is older, the risk of Down syndrome increases exponentially.

Symptoms and Signs

When babies are born with Down syndrome they usually do not develop as fast as other children, and they typically do not reach the average height of other children their age. There are some common distinguishing features of those with Down syndrome. Some of these features include:

  • Small mouth
  • Small ears
  • Upward slanting eyes
  • Protruding tongue
  • Flattened nose

There are a number of medical conditions that can occur in people with Down syndrome. Around 50% of children with Down syndrome have heart defects. Children born with Down syndrome are at a higher risk for developing certain types of leukemia and testicular cancers. Common illness include: frequent ear infections, hearing loss, constipation, obesity, dementia, and seizures. Ear, nose, mouth, and throat symptoms for children with Down syndrome include:

  • Difficulty breathing
  • Coughing
  • Wheezing
  • Nasal drainage and congestion
  • Earache

Solutions and Options

Unfortunately, there is no treatment for Down syndrome at this time, even though there is an understanding of the genetic cause. Research is ongoing, as scientists are constantly investigating the disorder. If your child has breathing problems, ear infections, or throat conditions related to Down syndrome, consider an evaluation with one of our pediatric Down syndrome specialists.

When babies are born with heart defects and also gastrointestinal problems, they may have to undergo surgery at some point to try and correct the problem. Also, regular checkups and screenings with a Down syndrome pediatric healthcare provider helps cut down on complications. Additionally, physical therapy and other interventions improve the outcome for children with this condition.

Summary

There is a positive outlook for people with Down syndrome, as medical treatment has improved over the years. The life expectancy for someone with Down syndrome is shorter than that of a person without the disease, however. This genetic disorder affects many children in the United States, as it is one of the most common genetic defects. Intervention methods will help improve the overall well-being of your child. Call today for an appointment with one of our specially trained pediatric Down syndrome specialists. The doctor will work with you to find a solution to your child’s symptoms.

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