What Is Down Syndrome?
- Down syndrome is the most common genetic disorder in America.
- Individuals with Down syndrome have mild to moderate specials needs.
- There are numerous helpful programs for individuals with Down syndrome and their households, assisting individuals with Down syndrome to live healthy and satisfying lives.
Down syndrome (sometimes called Down’s syndrome) is a condition where a child is born with an additional copy of their 21st chromosome (hence its other name, Trisomy 21). This causes physical and psychological developmental delays and impairments.
Much of the specials needs are long-lasting and they can also reduce life span. However, individuals with Down syndrome can live healthy and satisfying lives. Current medical advances along with cultural and institutional support for people with Down syndrome and their households supply many chances to help get rid of challenges.
Better understanding of Down syndrome and early interventions can significantly increase the quality of life for children and grownups with this condition and assist them live satisfying lives.
What Causes Down Syndrome?
According to the National Down Syndrome Society (NDSS), about 1 in 700 babies in the United States is born with Down syndrome. It’s the most typical genetic disorder in the United States.
A fast description of fundamental genes can assist you understand how it happens. In all cases of reproduction, both parents pass their genes on to their children. These genes are carried in chromosomes. When the baby’s cells develop, each cell is expected to receive 23 sets of chromosomes (46 chromosomes total). Half of the chromosomes are from the mom and half are from the daddy.
In children with Down syndrome, one of the chromosomes does not different appropriately. The baby winds up with 3 copies, or an additional partial copy, of chromosome 21, instead of two. This extra chromosome causes problems as the brain and physical functions develop.
Types of Down Syndrome
There are three types of Down syndrome:
Trisomy 21 implies there is an extra copy of chromosome 21 in every cell. This is the most common kind of Down syndrome.
Mosaicism occurs when a child is born with an extra chromosome in some however not all of their cells. People with mosaic Down syndrome have the tendency to have less symptoms than those with trisomy 21.
In this type of Down syndrome, children have just an extra part of chromosome 21. There are 46 total chromosomes. However, one of them has an extra piece of chromosome 21 attached.
Will My Child Be at Risk for Down Syndrome?
Particular parents have a higher risk of bring to life a child with Down syndrome. Moms age 35 and older are more likely to have a baby with Down syndrome than younger moms. The risk increases the older the mom is. Research shows that paternal age also has an effect– one 2003 research study discovered that daddies over 40 had two times the risk of having a child with Down syndrome.
Other parents who are at higher risk of having a child with Down syndrome consist of:
- individuals with a family history of Down syndrome
- people who carry the genetic translocation
It is necessary to bear in mind that no one of these aspects mean that you will certainly have a baby with Down syndrome, but statistically and over a large population, they can put you at greater risk.
What Are the Symptoms of Down Syndrome?
Though the probability of carrying a baby with Down syndrome can be approximated by evaluating during pregnancy, you will not experience any symptoms of bring a Down syndrome child.
At birth, babies with Down syndrome typically have certain characteristic signs, consisting of:
- flat facial features
- little head and ears
- brief neck
- bulging tongue
- eyes that slant up
- oddly formed ears
- bad muscle tone
A baby with Down syndrome can be born at normal size but will develop more gradually than a child without the condition.
People with Down syndrome normally have some degree of psychological disability, however it’s typically moderate to moderate. Psychological and social advancement hold-ups may imply that the child could have:
- impulsive habits
- bad judgment
- short attention span
- sluggish learning capabilities
Medical complications frequently accompany Down syndrome. These may include:
- genetic heart defects
- hearing loss
- poor vision
- cataracts ( eyes)
- hip problems, such as dislocations
- chronic constipation
- sleep apnea (disrupted breathing during sleep)
- dementia (idea and memory problems)
- hypothyroidism (low thyroid function)
- weight problems
- late tooth growth, triggering issues with chewing
- Alzheimer’s, in later life
People with Down syndrome are likewise more susceptible to infection. They might fight with respiratory infections, urinary tract infections, and skin infections.
Screening for Down Syndrome During Pregnancy
Screening for Down syndrome is provided as a routine part of prenatal care in the United States. If you are a female over 35, your baby’s father is over 40, or there’s a household history of Down syndrome, you might want to get an evaluation.
An ultrasound evaluation and blood tests can search for Down syndrome in your fetus. These tests have a higher false-positive rate than tests done at later pregnancy stages. If outcomes aren’t typical, your doctor might follow up with an amniocentesis after your 15th week of pregnancy.
An ultrasound and quadruple marker screen (QMS) test can help identify Down syndrome and other flaws in the brain and spine. This test is done in between 15 and 20 weeks.
If any of these tests aren’t regular, you will be thought about at high risk for abnormality.
Extra Prenatal Tests
Your doctor might buy additional tests to detect Down syndrome in your baby:
- Amniocentesis: Your doctor takes a sample of amniotic fluid to take a look at the number of chromosomes the baby has. The test is normally done after 15 weeks.
- Chorionic villus sampling (CVS): Your doctor will take cells from your placenta to analyze fetal chromosomes. This test is done during the ninth and 14th week of pregnancy. It can increase your risk of a miscarriage, however just by less than 1 percent.
- Percutaneous umbilical blood sampling (CLUBS, or cordocentesis): Your doctor will take blood from the umbilical cord and examine it for chromosomal problems. It’s done after the 18th week of pregnancy. It has a greater risk of miscarriage, so it’s performed only if all other tests are uncertain.
Some women select not to go through these tests since of the risk of miscarriage. They would rather risk having a child with Down syndrome than losing the pregnancy.
Tests at Birth
At birth, your doctor will:
- carry out a health examination of your baby
- order a blood test called a karyotype to confirm Down syndrome
Treating Down Syndrome
There is no treatment for Down syndrome, however there is also a wide range of assistance and curricula that can assist both individuals with the condition and their households. The NDSS is simply one place to try to find programs nationwide.
Available programs begin with interventions in infancy. Federal law requires that states offer therapy programs for certifying families. In these programs, special education instructors and therapists will assist your child discover:
- sensory abilities
- social skills
- motor skills
- language and cognitive abilities
Children with Down syndrome often meet age-related milestones. However, they might discover more gradually than other children.
School is a vital part of the life of a child with Down syndrome, despite intellectual capability. Public and independent schools support people with Down syndrome and their families with incorporated classrooms and special education chances. Schooling allows valuable socialization and helps trainees with Down syndrome construct essential life skills.
Dealing with Down Syndrome
Life expectancy for people with Down syndrome has actually enhanced significantly in current years. In 1960, a baby born with Down syndrome typically didn’t see their 10th birthday. Today, life span for individuals with Down syndrome has reached an average of 60.
If you are raising a child with Down syndrome, you will require a close relationship with medical professionals who understand the condition’s special difficulties. In addition to larger concerns, like heart flaws and leukemia, people with Down syndrome might have to be protected from common infections such as colds.
Individuals with Down syndrome are living longer and richer lives than ever. Though they can typically face a distinct set of challenges, they can also get rid of those challenges in ways that influence the rest people. Building a strong support network of knowledgeable professionals and comprehending family and friends is essential for the success of individuals with Down syndrome and their families. Have a look at the National Down Syndrome Society and the National Association for Down Syndrome for assistance and hope.
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